CHAMP Mutation List Database Excel file

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					                                             CHAMP Mutation List
                                               Table of Contents
           Tab                                                      Information

CHAMP Mutation List   List of mutations of the factor VIII gene (F8 ) reported to cause hemophilia A

Field Definitions     Definitions of fields used in the CHAMP Mutation List

References            References for reported mutations including author and year of first publication

Figures               Figures obtained by analyzing the CHAMP Mutation List
                      Figure 1. Graph of novel mutations by year of publication
                      Figure 2. Chart of frequency of mutation types in the CHAMP database
                      Figure 3. Graph of F8 missense, frameshift, and nonsense mutations by codon
                      Figure 4. Graph of F8 mutations by domain
                      Figure 5. Graph of reported large deletions in F8
                      Figure 6. Graph of severity of hemophilia A by F8 codon
                      Figure 7. Graph of F8 mutations reported with inhibitors

Tables                Tables obtained by analyzing the CHAMP Mutation List
                      Table 1. Frequency of mutation types in the CHAMP Mutation List
                      Table 2. Frequency of inhibitors associated with mutation types in the CHAMP Mutation List


Instructions          Instructions for searching the database

Submissions           Form for submission of novel mutations or corrections of current listings
                                        1728f16d-7517-4aa6-a144-5045b0364f54.xlsx




HGVS cDNA            HGVS Protein                          Mature Protein           Mutation Type
c.1024delT           p.Tyr342Metfs*4                       Tyr323Metfs*4            Frameshift
c.1074dupT           p.Asn359*                             Asn340*                  Frameshift
c.1077_1080del       p.Asn359Lysfs*58                      Asn340Lysfs*58           Frameshift
c.1078_1079del       p.Glu360Argfs*6                       Glu341Argfs*6            Frameshift
c.1165delC           p.Gln389Lysfs*29                      Gln370Lysfs*29           Frameshift
c.1189dupC           p.His397Profs*3                       His378Profs*3            Frameshift
c.1200_1201del       p.Trp401Glyfs*7                       Trp382Glyfs*7            Frameshift
c.1220delC           p.Ala407Valfs*11                      Ala388Valfs*11           Frameshift
c.1251_1252insC      p.Val418Argfs*6                       Val399Argfs*6            Frameshift
c.1258_1262del       p.Ala420Argfs*2                       Ala401Argfs*2            Frameshift
c.1263dupC           p.Asp422Argfs*2                       Asp403Argfs*2            Frameshift
c.1266_1270del       p.Asp422Glufs*4                       Asp403Glufs*4            Frameshift
c.1293delG           p.Asn432Thrfs*50                      Asn413Thrfs*50           Frameshift
c.1311delG           p.Ile438Leufs*44                      Ile419Leufs*44           Frameshift
c.1325delA           p.Tyr442Serfs*40                      Tyr423Serfs*40           Frameshift
c.1326delC           p.Tyr442*                             Tyr423*                  Frameshift
c.1331_1332del       p.Lys444Serfs*9                       Lys425Serfs*9            Frameshift
c.1331_1332delinsT   p.Lys444Metfs*38                      Lys425Metfs*38           Frameshift
c.1332delA           p.Val445Serfs*37                      Val426Serfs*37           Frameshift
c.1336dupC           p.Arg446Profs*8                       Arg427Profs*8            Frameshift
c.1338delA           p.Phe447Leufs*35                      Phe428Leufs*35           Frameshift
c.1342dupA           p.Met448Asnfs*6                       Met429Asnfs*6            Frameshift
c.1409delC           p.Pro470Leufs*12                      Pro451Leufs*12           Frameshift
c.1410_1413del       p.Leu471Phefs*10                      Leu452Phefs*10           Frameshift
c.1414_1418del       p.Leu472Trpfs*12                      Leu453Trpfs*12           Frameshift
c.1414dupC           p.Leu472Thrfs*14                      Leu453Thrfs*14           Frameshift
c.1438_1439del       p.Leu480Valfs*5                       Leu461Valfs*5            Frameshift
c.1441_1442insA      p.Leu481Tyrfs*5                       Leu462Tyrfs*5            Frameshift
c.1442_1443dup       p.Ile482*                             Ile463*                  Frameshift
c.1478delA           p.Asn493Thrfs*22                      Asn474Thrfs*22           Frameshift


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c.1487delC           p.Pro496Leufs*19                      Pro477Leufs*19           Frameshift
c.1498delA           p.Thr500Leufs*15                      Thr481Leufs*15           Frameshift
c.1506_1516del       p.Arg503Phefs*25                      Arg484Phefs*25           Frameshift
c.1522delA           p.Arg508Glyfs*7                       Arg489Glyfs*7            Frameshift
c.1560delT           p.Pro521Glnfs*14                      Pro502Glnfs*14           Frameshift
c.1579_1601del       p.Ile527Aspfs*8                       Ile508Aspfs*8            Frameshift
c.1582_1588del       p.Phe528Ilefs*5                       Phe509Ilefs*5            Frameshift
c.1596dupG           p.Thr533Aspfs*10                      Thr514Aspfs*10           Frameshift
c.1619delC           p.Pro540Glnfs*9                       Pro521Glnfs*9            Frameshift
c.1631_1632del       p.Asp544Alafs*10                      Asp525Alafs*10           Frameshift
c.1680delA           p.Asp561Ilefs*2                       Asp542Ilefs*2            Frameshift
c.1682delA           p.Asp561Valfs*2                       Asp542Valfs*2            Frameshift
c.170_179dup         p.Thr61Serfs*25                       Thr42Serfs*25            Frameshift
c.1748delA           p.Asn583Thrfs*3                       Asn564Thrfs*3            Frameshift
c.1750delC           p.Gln584Argfs*2                       Gln565Argfs*2            Frameshift
c.1783_1790del       p.Phe595Ilefs*2                       Phe576Ilefs*2            Frameshift
c.1820_1821del       p.Thr607Argfs*16                      Thr588Argfs*16           Frameshift
c.1823_1835del       p.Glu608Alafs*48                      Glu589Alafs*48           Frameshift
c.1845delC           p.Asn616Ilefs*44                      Asn597Ilefs*44           Frameshift
c.1861delC           p.Gln621Serfs*39                      Gln602Serfs*39           Frameshift
c.1874_1875del       p.Pro625Argfs*17                      Pro606Argfs*17           Frameshift
c.1916_1917del       p.Tyr639Cysfs*3                       Tyr620Cysfs*3            Frameshift
c.1923_1924delinsA   p.Phe641Leufs*19                      Phe622Leufs*19           Frameshift
c.1924_1948del       p.Asp642Cysfs*10                      Asp623Cysfs*10           Frameshift
c.1941_1944del       p.Leu650Metfs*9                       Leu631Metfs*9            Frameshift
c.1947_1950del       p.Leu650Metfs*9                       Leu631Metfs*9            Frameshift
c.199_200del         p.Lys67Argfs*15                       Lys48Argfs*15            Frameshift
c.199_221del         p.Lys67Glyfs*8                        Lys48Glyfs*8             Frameshift
c.1990_1991del       p.Gln664Aspfs*2                       Gln645Aspfs*2            Frameshift
c.1996_1999del       p.Asp666Serfs*55                      Asp647Serfs*55           Frameshift
c.2000delT           p.Phe667Serfs*55                      Phe648Serfs*55           Frameshift
c.2004_2007del       p.Val670Serfs*51                      Val651Serfs*51           Frameshift


                                                         Page 3
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c.2005delT               p.Ser669Leufs*53                      Ser650Leufs*53           Frameshift
c.200dupA                p.Thr68Aspfs*15                       Thr49Aspfs*15            Frameshift
c.2014_2017del           p.Phe672Leufs*49                      Phe653Leufs*49           Frameshift
c.203_204insGA           p.Leu69Ilefs*4                        Leu50Ilefs*4             Frameshift
c.2033_2036dup           p.His679Glnfs*7                       His660Glnfs*7            Frameshift
c.2040_2043del           p.Met681Serfs*40                      Met662Serfs*40           Frameshift
c.205_206del             p.Leu69Valfs*13                       Leu50Valfs*13            Frameshift
c.2058_2059del           p.Leu687Hisfs*42                      Leu668Hisfs*42           Frameshift
c.206_212del             p.Leu69Glnfs*21                       Leu50Glnfs*21            Frameshift
c.2062dupA               p.Thr688Asnfs*42                      Thr669Asnfs*42           Frameshift
c.2067_2088del           p.Phe690Serfs*25                      Phe671Serfs*25           Frameshift
c.207_208del             p.Phe70Cysfs*12                       Phe51Cysfs*12            Frameshift
c.2089_2090del           p.Val697Leufs*32                      Val678Leufs*32           Frameshift
c.209_212del             p.Phe70*                              Phe51*                   Frameshift
c.2102_2106del           p.Met701Lysfs*27                      Met682Lysfs*27           Frameshift
c.2118dupA               p.Trp707Metfs*23                      Trp688Metfs*23           Frameshift
c.2164dupA               p.Thr722Asnfs*8                       Thr703Asnfs*8            Frameshift
c.2177_2178insAATGA      p.Val727Metfs*26                      Val708Metfs*26           Frameshift
c.2182delT               p.Ser728Leufs*23                      Ser709Leufs*23           Frameshift
c.2186delG               p.Ser729Ilefs*22                      Ser710Ilefs*22           Frameshift
c.2202delT               p.Gly735Valfs*16                      Gly716Valfs*16           Frameshift
c.2203_2204insAGAA       p.Gly735Glufs*3                       Gly716Glufs*3            Frameshift
c.2208_2214delinsCTCTT   p.Tyr737Serfs*2                       Tyr718Serfs*2            Frameshift
c.2216delA               p.Glu739Glyfs*12                      Glu720Glyfs*12           Frameshift
c.2235_2242del           p.Ser746Leufs*4                       Ser727Leufs*4            Frameshift
c.224delA                p.Asp75Valfs*17                       Asp56Valfs*17            Frameshift
c.2298delA               p.Arg766Serfs*20                      Arg747Serfs*20           Frameshift
c.2317_2318del           p.Lys773Alafs*3                       Lys754Alafs*3            Frameshift
c.233delT                p.Phe78Serfs*14                       Phe59Serfs*14            Frameshift
c.2354_2355del           p.Ile785Argfs*4                       Ile766Argfs*4            Frameshift
c.2358_2359del           p.Lys787Aspfs*2                       Lys768Aspfs*2            Frameshift
c.2360delA               p.Lys787Argfs*24                      Lys768Argfs*24           Frameshift


                                                             Page 4
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c.2369delC                       p.Pro790Leufs*21                      Pro771Leufs*21           Frameshift
c.2373dupG                       p.Phe792Valfs*9                       Phe773Valfs*9            Frameshift
c.2376delT                       p.Phe792Leufs*19                      Phe773Leufs*19           Frameshift
c.2384_2388del                   p.Arg795Thrfs*4                       Arg776Thrfs*4            Frameshift
c.2397delT                       p.Ile801Tyrfs*10                      Ile782Tyrfs*10           Frameshift
c.2409delT                       p.Asn803Lysfs*8                       Asn784Lysfs*8            Frameshift
c.2412_2421del                   p.Ser805Ilefs*3                       Ser786Ilefs*3            Frameshift
c.2417delC                       p.Ser806Leufs*5                       Ser787Leufs*5            Frameshift
c.2419dupA                       p.Ser807Lysfs*2                       Ser788Lysfs*2            Frameshift
c.2485delG                       p.Glu829Lysfs*16                      Glu810Lysfs*16           Frameshift
c.2485dupG                       p.Glu829Glyfs*5                       Glu810Glyfs*5            Frameshift
c.2490delC                       p.Lys831Asnfs*14                      Lys812Asnfs*14           Frameshift
c.2521_2530del                   p.Pro841*                             Pro822*                  Frameshift
c.2526_2527del                   p.Ala843Asnfs*4                       Ala824Asnfs*4            Frameshift
c.2534_2537del                   p.Asp845Valfs*8                       Asp826Valfs*8            Frameshift
c.2553_2554ins13                 p.Glu852*                             Glu833*                  Frameshift
c.2554_2555delinsT               p.Glu852*                             Glu833*                  Frameshift
c.2554_2566dup                   p.Phe856*                             Phe837*                  Frameshift
c.2593delG                       p.Asp865Thrfs*12                      Asp846Thrfs*12           Frameshift
c.2597_2652dup                   p.Thr885Trpfs*11                      Thr866Trpfs*11           Frameshift
c.2597dupT                       p.Met866Ilefs*6                       Met847Ilefs*6            Frameshift
c.2600_2601insG                  p.Phe868Ilefs*4                       Phe849Ilefs*4            Frameshift
c.2609_2610del                   p.Pro870Argfs*10                      Pro851Argfs*10           Frameshift
c.2609dupC                       p.Glu871*                             Glu852*                  Frameshift
c.2610delT                       p.Glu871Serfs*6                       Glu852Serfs*6            Frameshift
c.2611_2614dup                   p.Ser872*                             Ser853*                  Frameshift
c.2647_2655delinsCTGCAGTT        p.Gly883Leufs*8                       Gly864Leufs*8            Frameshift

c.2649_2651delinsCAATTAAATGAGA   p.Thr884Asnfs*2                       Thr865Asnfs*2            Frameshift
c.2649delG                       p.Thr884Glnfs*7                       Thr865Glnfs*7            Frameshift
c.2660dupC                       p.Thr888Asnfs*7                       Thr869Asnfs*7            Frameshift
c.270delG                        p.Leu91*                              Leu72*                   Frameshift


                                                                     Page 5
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c.2729dupC                      p.Asp911Argfs*8                        Asp892Argfs*8            Frameshift
c.2738dupT                      p.Leu913Phefs*6                        Leu894Phefs*6            Frameshift
c.2765_2766delinsAA             p.Ser922*                              Ser903*                  Frameshift
c.2766delC                      p.Leu923*                              Leu904*                  Frameshift
c.2771_2777del                  p.Gly924Glufs*11                       Gly905Glufs*11           Frameshift
c.2777dupC                      p.Ser927Lysfs*7                        Ser908Lysfs*7            Frameshift
c.2810delA                      p.Asp937Valfs*19                       Asp918Valfs*19           Frameshift
c.2830_2831del                  p.Lys944Valfs*6                        Lys925Valfs*6            Frameshift
c.2842delC                      p.Thr949Leufs*7                        Thr930Leufs*7            Frameshift
c.2901dupA                      p.Glu968Argfs*7                        Glu949Argfs*7            Frameshift
c.2909delG                      p.Gly970Valfs*2                        Gly951Valfs*2            Frameshift
c.2918delA                      p.Asn973Ilefs*31                       Asn954Ilefs*31           Frameshift
c.2935delT                      p.Trp979Glyfs*25                       Trp960Glyfs*25           Frameshift
c.2939delG                      p.Gly980Glufs*24                       Gly961Glufs*24           Frameshift
c.2939dupG                      p.Asn982Lysfs*9                        Asn963Lysfs*9            Frameshift
c.2945delA                      p.Asn982Metfs*22                       Asn963Metfs*22           Frameshift
c.2945dupA                      p.Asn982Lysfs*9                        Asn963Lysfs*9            Frameshift
c.2958delA                      p.Glu987Argfs*17                       Glu968Argfs*17           Frameshift
c.2962_2963del                  p.Ser988Trpfs*2                        Ser969Trpfs*2            Frameshift
c.3006delG                      p.Leu1002Phefs*2                       Leu983Phefs*2            Frameshift
c.3047delT                      p.Leu1016Cysfs*2                       Leu997Cysfs*2            Frameshift
c.305_306insTGAGATTTATGTTCTTA   p.Val103Glufs*64                       Val84Glufs*64            Frameshift
c.3053delA                      p.Lys1018Argfs*23                      Lys999Argfs*23           Frameshift
c.3060_3063del                  p.Asn1020Lysfs*20                      Asn1001Lysfs*20          Frameshift
c.3060delC                      p.Asn1020Lysfs*21                      Asn1001Lysfs*21          Frameshift
c.3061_3065del                  p.Lys1021Phefs*3                       Lys1002Phefs*3           Frameshift
c.3091_3094del                  p.Lys1031Leufs*9                       Lys1012Leufs*9           Frameshift
c.3150_3151insTC                p.Ile1051Serfs*3                       Ile1032Serfs*3           Frameshift
c.3152delT                      p.Ile1051Asnfs*2                       Ile1032Asnfs*2           Frameshift
c.3203_3204del                  p.Arg1068Asnfs*18                      Arg1049Asnfs*18          Frameshift
c.3220_3221ins14                p.Asn1074Metfs*10                      Asn1055Metfs*10          Frameshift
c.3224delC                      p.Ala1075Valfs*4                       Ala1056Valfs*4           Frameshift


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c.3255_3259del       p.Lys1086Tyrfs*30                       Lys1067Tyrfs*30          Frameshift
c.3275dupA           p.Asn1092Lysfs*26                       Asn1073Lysfs*26          Frameshift
c.3298_3305dup       p.Pro1103Lysfs*38                       Pro1084Lysfs*38          Frameshift
c.3299_3300del       p. Lys1100Argfs*17                      Lys1082Argfs*17          Frameshift
c.3300delA           p.Glu1101Argfs*37                       Glu1082Argfs*37          Frameshift
c.3300dupA           p.Glu1101Argfs*17                       Glu1082Argfs*17          Frameshift
c.3302_3303del       p.Glu1101Glyfs*16                       Glu1082Glyfs*16          Frameshift
c.3304_3319dup       p.Asp1107Glyfs*16                       Asp1088Glyfs*16          Frameshift
c.3344delT           p.Phe1115Serfs*23                       Phe1096Serfs*23          Frameshift
c.3353dupT           p.Met1118Ilefs*48                       Met1099Ilefs*48          Frameshift
c.3356dupT           p.Phe1120Ilefs*46                       Phe1101Ilefs*46          Frameshift
c.3370_3371delinsA   p.Ser1124Lysfs*14                       Ser1105Lysfs*14          Frameshift
c.338_341dup         p.Val115Serfs*16                        Val96Serfs*16            Frameshift
c.3388delA           p.Arg1130Glyfs*8                        Arg1111Glyfs*8           Frameshift
c.3402_3409del       p.Lys1134Asnfs*29                       Lys1115Asnfs*29          Frameshift
c.3409_3410del       p.Leu1137Glufs*28                       Leu1118Glufs*28          Frameshift
c.3410_3411del       p.Leu1137Glnfs*28                       Leu1118Glnfs*28          Frameshift
c.3416_3417del       p.Ser1139Trpfs*26                       Ser1120Trpfs*26          Frameshift
c.3417dupT           p.Gly1140Trpfs*26                       Gly1121Trpfs*26          Frameshift
c.3430delA           p.Ser1144Valfs*5                        Ser1125Valfs*5           Frameshift
c.347_353del         p.Ser116Metfs*43                        Ser97Metfs*43            Frameshift
c.349_350insGT       p.Leu117Argfs*45                        Leu98Argfs*45            Frameshift
c.3490delT           p.Ser1164Leufs*7                        Ser1145Leufs*7           Frameshift
c.3500dupA           p.Asn1167Lysfs*9                        Asn1148Lysfs*9           Frameshift
c.3508delG           p.Val1170*                              Val1151*                 Frameshift
c.3525delA           p.Glu1175Aspfs*6                        Glu1156Aspfs*6           Frameshift
c.3530delC           p.Thr1177Lysfs*4                        Thr1158Lysfs*4           Frameshift
c.3548_3549del       p.Lys1183Argfs*14                       Lys1164Argfs*14          Frameshift
c.654delT            p.Phe218Leufs*18                        Phe199Leufs*18           Frameshift
c.3565dupA           p.Ser1189Lysfs*9                        Ser1170Lysfs*9           Frameshift
c.3590delA           p.Asn1197Thrfs*21                       Asn1178Thrfs*21          Frameshift
c.360delT            p.Gly121Valfs*40                        Gly102Valfs*40           Frameshift


                                                           Page 7
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c.3619_3622del                    p.His1207Ilefs*10                      His1188Ilefs*10          Frameshift
c.3619_3622dup                    p.Asn1208Thrfs*34                      Asn1189Thrfs*34          Frameshift
c.3621_3622del                    p.His1207Glnfs*33                      His1188Glnfs*33          Frameshift
c.3624delT                        p.Gln1209Lysfs*9                       Gln1190Lysfs*9           Frameshift
c.3625dupC                        p.Gln1209Profs*32                      Gln1190Profs*32          Frameshift
c.3636_3637del                    p.Lys1212Asnfs*28                      Lys1193Asnfs*28          Frameshift
c.3637delA                        p.Ile1213Phefs*5                       Ile1194Phefs*5           Frameshift
c.3637dupA                        p.Ile1213Asnfs*28                      Ile1194Asnfs*28          Frameshift
c.364_365del                      p.Val122Ilefs*7                        Val103Ilefs*7            Frameshift
c.364delinsTT                     p.Val122Phefs*8                        Val103Phefs*8            Frameshift
c.3652delG                        p.Glu1218Lysfs*6                       Glu1199Lysfs*6           Frameshift
c.3692delC                        p.Pro1231Leufs*6                       Pro1212Leufs*6           Frameshift
c.3700_3703del                    p.His1234Glnfs*2                       His1215Glnfs*2           Frameshift
c.3702_3705del                    p.His1234Glnfs*2                       His1215Glnfs*2           Frameshift
c.3703delA                        p.Thr1235Glnfs*2                       Thr1216Glnfs*2           Frameshift
c.3710delC                        p.Thr1237Metfs*7                       Thr1218Metfs*7           Frameshift
c.3735_3744delinsATTTCTTTTTCTTT   p.Asn1245Lysfs*9                       Asn1226Lysfs*9           Frameshift
c.3736delC                        p.Leu1246Phefs*4                       Leu1227Phefs*4           Frameshift
c.3756delG                        p.Arg1252Serfs*4                       Arg1233Serfs*4           Frameshift
c.3772delT                        p.Ser1258Hisfs*16                      Ser1239Hisfs*16          Frameshift
c.379delG                         p.Ala127Leufs*34                       Ala108Leufs*34           Frameshift
c.3815delC                        p.Ser1272Tyrfs*2                       Ser1253Tyrfs*2           Frameshift
c.3830delC                        p.Thr1277Lysfs*31                      Thr1258Lysfs*31          Frameshift
c.3833delA                        p.Asn1278Ilefs*30                      Asn1259Ilefs*30          Frameshift
c.3835delA                        p.Arg1279Glufs*29                      Arg1260Glufs*29          Frameshift
c.3851_3852del                    p.Thr1284Serfs*35                      Thr1265Serfs*35          Frameshift
c.3860delT                        p.Phe1287Serfs*21                      Phe1268Serfs*21          Frameshift
c.3863dupC                        p.Gly1291Argfs*29                      Gly1272Argfs*29          Frameshift
c.3870dupA                        p.Gly1291Argfs*29                      Gly1272Argfs*29          Frameshift
c.3902delA                        p.Asn1301Ilefs*7                       Asn1282Ilefs*7           Frameshift
c.3907_3908del                    p.Thr1303Glnfs*16                      Thr1284Glnfs*16          Frameshift
c.3907_3911del                    p.Thr1303Alafs*15                      Thr1284Alafs*15          Frameshift


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c.3911dupA       p.Gln1305Alafs*15                      Gln1286Alafs*15          Frameshift
c.3951_3952del   p.Pro1318*                             Pro1299*                 Frameshift
c.3975delT       p.Phe1325Leufs*10                      Phe1306Leufs*10          Frameshift
c.3984dupA       p.Arg1329Thrfs*2                       Arg1310Thrfs*2           Frameshift
c.3991_3992del   p.Lys1331Glufs*16                      Lys1312Glufs*16          Frameshift
c.3994_3997del   p.Arg1332Leufs*2                       Arg1313Leufs*2           Frameshift
c.4029_4030dup   p.Thr1344Lysfs*8                       Thr1325Lysfs*8           Frameshift
c.4035delA       p.Glu1345Aspfs*6                       Glu1326Aspfs*6           Frameshift
c.4094_4100del   p.His1365Profs*8                       His1346Profs*8           Frameshift
c.4097delT       p.Leu1366*                             Leu1347*                 Frameshift
c.4103delC       p.Pro1368Argfs*7                       Pro1349Argfs*7           Frameshift
c.4121_4124del   p.Ile1374Thrfs*49                      Ile1355Thrfs*49          Frameshift
c.4157_4197dup   p.Pro1400Serfs*38                      Pro1381Serfs*38          Frameshift
c.4199delC       p.Pro1400Leufs*24                      Pro1381Leufs*24          Frameshift
c.3561delT       p.Pro1188Glnfs*30                      Pro1169Glnfs*30          Frameshift
c.4227delT       p.Ile1409Metfs*15                      Ile1390Metfs*15          Frameshift
c.4232delA       p.Lys1411Argfs*13                      Lys1392Argfs*13          Frameshift
c.4242dupA       p.Phe1415Ilefs*5                       Phe1396Ilefs*5           Frameshift
c.4265_4266del   p.Tyr1422Serfs*19                      Tyr1403Serfs*19          Frameshift
c.427_428del     p.Glu143Argfs*2                        Glu124Argfs*2            Frameshift
c.4272delC       p.Arg1425Glyfs*40                      Arg1406Glyfs*40          Frameshift
c.4280_4290del   p.Leu1427Glnfs*11                      Leu1408Glnfs*11          Frameshift
c.4280delT       p.Leu1427Hisfs*38                      Leu1408Hisfs*38          Frameshift
c.4288_4292del   p.Asp1430Leufs*10                      Asp1411Leufs*10          Frameshift
c.4296_4300del   p.His1434Serfs*6                       His1415Serfs*6           Frameshift
c.4318delT       p.Tyr1440Ilefs*25                      Tyr1421Ilefs*25          Frameshift
c.4328_4331del   p.Lys1443Ilefs*21                      Lys1424Ilefs*21          Frameshift
c.4329dupA       p.Asp1444Argfs*18                      Asp1425Argfs*18          Frameshift
c.4339delG       p.Val1447Serfs*18                      Val1428Serfs*18          Frameshift
c.4339dupG       p.Val1447Glyfs*15                      Val1428Glyfs*15          Frameshift
c.4379delA       p.Asn1460Ilefs*5                       Asn1441Ilefs*5           Frameshift
c.4379dupA       p.Asn1460Lysfs*2                       Asn1441Lysfs*2           Frameshift


                                                      Page 9
                                                      1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.4380delT                        p.Asn1460Lysfs*5                       Asn1441Lysfs*5           Frameshift
c.4382_4383del                    p.Asn1461Thrfs*13                      Asn1442Thrfs*13          Frameshift
c.4382delA                        p.Asn1461Thrfs*4                       Asn1442Thrfs*4           Frameshift
c.4383_4384del                    p.Leu1462Phefs*12                      Leu1443Phefs*12          Frameshift
c.4388_4391del                    p.Ser1463*                             Ser1444*                 Frameshift
c.4402delA                        p.Thr1468Profs*4                       Thr1449Profs*4           Frameshift
c.4409_4418del                    p.Glu1470Valfs*94                      Glu1451Valfs*94          Frameshift
c.4425_4426del                    p.Glu1477Glyfs*18                      Glu1458Glyfs*18          Frameshift
c.4430_4431del                    p.Glu1477Glyfs*18                      Glu1458Glyfs*18          Frameshift
c.4446delG                        p.Thr1483Glnfs*84                      Thr1464Glnfs*84          Frameshift
c.4447delA                        p.Thr1483Glnfs*84                      Thr1464Glnfs*84          Frameshift
c.4447dupA                        p.Thr1483Asnfs*13                      Thr1464Asnfs*13          Frameshift
c.4451delG                        p.Ser1484Metfs*83                      Ser1465Metfs*83          Frameshift
c.4460delA                        p.Asn1487Ilefs*80                      Asn1468Ilefs*80          Frameshift
c.446delC                         p.Pro149Leufs*12                       Pro130Leufs*12           Frameshift
c.4477_4480del                    p.Lys1493Leufs*73                      Lys1474Leufs*73          Frameshift
c.4483delG                        p.Glu1495Argfs*72                      Glu1476Argfs*72          Frameshift
c.4492_4493del                    p.Val1498Serfs*14                      Val1479Serfs*14          Frameshift
c.4492_4496del                    p.Val1498Profs*13                      Val1479Profs*13          Frameshift
c.4492delG                        p.Val1498Phefs*69                      Val1479Phefs*69          Frameshift
c.450dupT                         p.Gly151Trpfs*19                       Gly132Trpfs*19           Frameshift
c.4511_4512del                    p.Leu1504Serfs*8                       Leu1485Serfs*8           Frameshift
c.4512delG                        p.Leu1504Phefs*63                      Leu1485Phefs*63          Frameshift
c.4513_4515delinsGCAAAGTTGGTTTG   p.Pro1505Alafs*64                      Pro1486Alafs*64          Frameshift
CCAAAACCATGTTGCCG
c.4519delA                        p.Thr1507Hisfs*60                      Thr1488Hisfs*60          Frameshift
c.4542_4543insA                   p.Pro1515Thrfs*16                      Pro1496Thrfs*16          Frameshift
c.4542delT                        p.Pro1515Glnfs*52                      Pro1496Glnfs*52          Frameshift
c.4548delA                        p.Val1517Phefs*50                      Val1498Phefs*50          Frameshift
c.4619delT                        p.Val1540Glyfs*27                      Val1521Glyfs*27          Frameshift
c.4627delA                        p.Ser1543Alafs*24                      Ser1524Alafs*24          Frameshift
c.4630dupC                        p.Leu1544Profs*10                      Leu1525Profs*10          Frameshift


                                                                      Page 10
                                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.4658delA            p.Lys1553Serfs*14                      Lys1534Serfs*14          Frameshift
c.4662_4663del        p.Trp1554*                             Trp1535*                 Frameshift
c.4665delinsAAG       p.Asn1555Lysfs*13                      Asn1536Lysfs*13          Frameshift
c.4672_4675del        p.Asn1558Aspfs*8                       Asn1539Aspfs*8           Frameshift
c.4686delA            p.Val1563Phefs*4                       Val1544Phefs*4           Frameshift
c.4687delG            p.Val1563Phefs*4                       Val1544Phefs*4           Frameshift
c.4703_4704insGAGAT   p.Ala1569Argfs*2                       Ala1550Argfs*2           Frameshift
c.4712_4715del        p.Glu1571Alafs*49                      Glu1552Alafs*49          Frameshift
c.4719_4729del        p.Ala1574Leufs*11                      Ala1555Leufs*11          Frameshift
c.4720delG            p.Ala1574Glnfs*47                      Ala1555Glnfs*47          Frameshift
c.4774dupA            p.Thr1592Asnfs*21                      Thr1573Asnfs*21          Frameshift
c.4781_4787del        p.Ile1594Lysfs*25                      Ile1575Lysfs*25          Frameshift
c.4788dupA            p.Glu1597Argfs*16                      Glu1578Argfs*16          Frameshift
c.4805_4806del        p.Gln1602Argfs*10                      Gln1583Argfs*10          Frameshift
c.4806delA            p.Glu1603Argfs*18                      Glu1584Argfs*18          Frameshift
c.4825delA            p.Thr1609Glnfs*12                      Thr1590Glnfs*12          Frameshift
c.4825dupA            p.Thr1609Asnfs*4                       Thr1590Asnfs*4           Frameshift
c.4841delA            p.Lys1614Argfs*7                       Lys1595Argfs*7           Frameshift
c.4848delC            p.Ile1617Phefs*4                       Ile1598Phefs*4           Frameshift
c.4858delC            p.Leu1620*                             Leu1601*                 Frameshift
c.486_487del          p.Asn163Trpfs*6                        Asn144Trpfs*65           Frameshift
c.4895delT            p.Ile1632Lysfs*10                      Ile1613Lysfs*10          Frameshift
c.4895dupT            p.Asn1633Lysfs*2                       Asn1614Lysfs*2           Frameshift
c.4899delT            p.Asn1633Lysfs*9                       Asn1614Lysfs*9           Frameshift
c.4901delA            p.Glu1634Glyfs*8                       Glu1615Glyfs*8           Frameshift
c.4911dupT            p.Lys1638*                             Lys1619*                 Frameshift
c.4922dupT            p.Glu1642Argfs*9                       Glu1623Argfs*9           Frameshift
c.4926delA            p.Val1643Serfs*20                      Val1624Serfs*20          Frameshift
c.4991_4992insA       p.His1665Profs*18                      His1646Profs*18          Frameshift
c.4999delC            p.Arg1667Glyfs*3                       Arg1648Glyfs*3           Frameshift
c.5010delT            p.Arg1671Valfs*21                      Arg1652Valfs*21          Frameshift
c.5012G>A             p.Arg1671His                           Arg1652His               Missense


                                                          Page 11
                                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5038G>T              p.Glu1680*                             Glu1661*                 Nonsense
c.5059_5070delinsTG    p.Ile1687*                             Ile1668*                 Frameshift
c.5063C>T              p.Ser1688Leu                           Ser1669Leu               Missense
c.5063C>G              p.Ser1688*                             Ser1669*                 Nonsense
c.5125delA             p.Ser1709Alafs*22                      Ser1690Alafs*22          Frameshift
c.514_515insTCAAGATA   p.Cys172Phefs*16                       Cys153Phefs*16           Frameshift
c.5140delA             p.Thr1714Hisfs*17                      Thr1695Hisfs*17          Frameshift
c.5187delG             p.Met1730*                             Met1711*                 Frameshift
c.519_523del           p.Thr174Leufs*24                       Thr155leufs*24           Frameshift
c.5213_5216del         p.Arg1738Thrfs*33                      Arg1719Thrfs*33          Frameshift
c.5227_5228del         p.Ser1743Trpfs*16                      Ser1724Trpfs*16          Frameshift
c.5238_5245del         p.Pro1747Glnfs*10                      Pro1728Glnfs*10          Frameshift
c.5243delA             p.Gln1748Argfs*24                      Gln1729Argfs*24          Frameshift
c.5271delT             p.Phe1757Leufs*15                      Phe1738Leufs*15          Frameshift
c.5337delG             p.Pro1780Hisfs*3                       Pro1761Hisfs*3           Frameshift
c.5348_5357del         p.Arg1783Metfs*7                       Arg1764Metfs*7           Frameshift
c.5397_5398del         p.Arg1800Serfs*7                       Arg1781Serfs*7           Frameshift
c.5422delC             p.Ile1809Phefs*62                      Ile1790Phefs*62          Frameshift
c.5428delT             p.Ser1810Leufs*61                      Ser1791Leufs*61          Frameshift
c.545delinsCT          p.Asp182Alafs*18                       Asp163Alafs*18           Frameshift
c.5460delA             p.Glu1820Aspfs*51                      Glu1801Aspfs*51          Frameshift
c.5464delA             p.Arg1822Glufs*49                      Arg1803Glufs*49          Frameshift
c.5471delA             p,Asn1824Thrfs*47                      Asn1805Thrfs*47          Frameshift
c.5471dupA             p.Asn1824Lysfs*6                       Asn1805Lysfs*6           Frameshift
c.5474_5475del         p.Phe1825Cysfs*4                       Phe1806Cysfs*4           Frameshift
c.5486delA             p.Asn1829Metfs*42                      Asn1810Metfs*42          Frameshift
c.5501dupA             p.Tyr1834*                             Tyr1815*                 Frameshift
c.5508_5521del         p.Trp1836*                             Trp1817*                 Frameshift
c.5542delG             p.Glu1848Serfs*23                      Glu1829Serfs*23          Frameshift
c.5563delG             p.Ala1855Leufs*16                      Ala1836Leufs*16          Frameshift
c.5564_5567del         p.Ala1855Valfs*15                      Ala1836Valfs*15          Frameshift
c.5573_5574del         p.Ser1858*                             Ser1839*                 Frameshift


                                                           Page 12
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5574delT       p.Asp1859Metfs*12                      Asp1840Metfs*12          Frameshift
c.5575delG       p.Asp1859Metfs*12                      Asp1840Metfs*12          Frameshift
c.5592delA       p.Asp1865Metfs*6                       Asp1846Metfs*6           Frameshift
c.5592dupA       p.Asp1865Argfs*16                      Asp1846Argfs*16          Frameshift
c.5622dupT       p.Leu1875Serfs*6                       Leu1856Serfs*6           Frameshift
c.5639delA       p.Asn1880Thrfs*3                       Asn1861Thrfs*3           Frameshift
c.5641delA       p.Thr1881Hisfs*2                       Thr1862Hisfs*2           Frameshift
c.5645_5648dup   p.Pro1884Glufs*21                      Pro1865Glufs*21          Frameshift
c.5675dupT       p.Gln1893Thrfs*11                      Gln1874Thrfs*11          Frameshift
c.5685delT       p.Phe1895Leufs*50                      Phe1876Leufs*50          Frameshift
c.5689_5690del   p.Leu1897Valfs*6                       Leu1878Valfs*6           Frameshift
c.5696dupT       p.Thr1900Hisfs*4                       Thr1881Hisfs*4           Frameshift
c.5697delC       p.Phe1899Leufs*46                      Phe1880Leufs*46          Frameshift
c.5719dupA       p.Ser1907Lysfs*6                       Ser1888Lysfs*6           Frameshift
c.5752delT       p.Cys1918Alafs*27                      Cys1899Alafs*27          Frameshift
c.5770delA       p.Ile1924Serfs*21                      Ile1905Serfs*21          Frameshift
c.5914_5915del   p.Ile1972Profs*19                      Ile1953Profs*19          Frameshift
c.5923dupA       p.Ile1975Asnfs*17                      Ile1956Asnfs*17          Frameshift
c.5953delC       p.Arg1985Glufs*45                      Arg1966Glufs*45          Frameshift
c.5954_5985del   p.Arg1985Glnfs*8                       Arg1966Glnfs*8           Frameshift
c.5960_5961del   p.Lys1987Argfs*4                       Lys1968Argfs*4           Frameshift
c.5961delA       p.Glu1988Argfs*42                      Glu1969Argfs*42          Frameshift
c.5961dupA       p.Glu1988Argfs*4                       Glu1969Argfs*4           Frameshift
c.5964_5967dup   p.Tyr1990Glyfs*3                       Tyr1971Glyfs*3           Frameshift
c.5973_5976del   p.Met1992Hisfs*37                      Met1973Hisfs*37          Frameshift
c.5976_5988del   p.Met1992Ilefs*34                      Met1973Ilefs*34          Frameshift
c.6007delinsTT   p.Glu2003Leufs*37                      Glu1984Leufs*37          Frameshift
c.6028dupT       p.Ser2010Phefs*30                      Ser1991Phefs*30          Frameshift
c.6049delG       p.Val2017Trpfs*13                      Val1998Trpfs*13          Frameshift
c.6070dupC       p.His2024Profs*16                      His2005Profs*16          Frameshift
c.6084delG       p.Met2029*                             Met2010*                 Frameshift
c.6089dupG       p.Ser2030Argfs*10                      Ser2011Argfs*10          Frameshift


                                                     Page 13
                                       1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6094delinsTT     p.Leu2032Phefs*8                       Leu2013Phefs*8           Frameshift
c.6099delT         p.Leu2034Trpfs*65                      Leu2015Trpfs*65          Frameshift
c.6116_6117del     p.Lys2039Metfs*13                      Lys2020Metfs*13          Frameshift
c.6120_6135del     p.Cys2040*                             Cys2021*                 Frameshift
c.6130delC         p.Leu2044Trpfs*55                      Leu2025Trpfs*55          Frameshift
c.6136dupA         p.Met2046Asnfs*7                       Met2027Asnfs*7           Frameshift
c.6165_6166dup     p.Ile2056Argfs*44                      Ile2037Argfs*44          Frameshift
c.6202_6257dup     p.Phe2087Serfs*31                      Phe2068Serfs*31          Frameshift
c.6218dupA         p.His2073Glnfs*53                      His2054Glnfs*53          Frameshift
c.6283_6284insA    p.Leu2095Tyrfs*31                      Leu2076Tyrfs*31          Frameshift
c.6296_6297del     p.Ile2099Asnfs*26                      Ile2080Asnfs*26          Frameshift
c.6312dupG         p.Thr2105Aspfs*21                      Thr2086Aspfs*21          Frameshift
c.6316delC         p.Gln2106Argfs*37                      Gln2087Argfs*37          Frameshift
c.6320_6321insAC   p.Ala2108Glyfs*36                      Ala2089Glyfs*36          Frameshift
c.6321delT         p.Ala2108Profs*35                      Ala2089Profs*35          Frameshift
c.6325_6326del     p.Arg2109Serfs*16                      Arg2090Serfs*16          Frameshift
c.6348_6349dup     p.Ile2117Thrfs*27                      Ile2098Thrfs*27          Frameshift
c.6361dupA         p.Ile2121Asnfs*5                       Ile2102Asnfs*5           Frameshift
c.636delC          p.His212Glnfs*24                       His193Glnfs*24           Frameshift
c.6370_6379del     p.Tyr2124Metfs*16                      Tyr2105Metfs*16          Frameshift
c.6412_6413del     p.Ser2138Hisfs*22                      Ser2119Hisfs*22          Frameshift
c.642dupT          p.Ile215Tyrfs*8                        Ile196Tyrfs*8            Frameshift
c.6464_6465del     p.Lys2155Thrfs*5                       Lys2136Thrfs*5           Frameshift
c.6467_6468del     p.His2156Glnfs*4                       His2137Glnfs*4           Frameshift
c.6469_6470del     p.Asn2157Tyrfs*3                       Asn2138Tyrfs*3           Frameshift
c.6477delT         p.Phe2159Leufs*27                      Phe2140Leufs*27          Frameshift
c.6489delT         p.Ile2164Leufs*22                      Ile2145Leufs*22          Frameshift
c.6494delC         p.Ala2165Valfs*21                      Ala2146Valfs*21          Frameshift
c.6497delG         p.Arg2166Hisfs*20                      Arg2147Hisfs*20          Frameshift
c.6501delC         p.Tyr2167*                             Tyr2148*                 Frameshift
c.6536delG         p.Ser2179Thrfs*7                       Ser2160Thrfs*7           Frameshift
c.2309C>G          p.Thr770Ser                            Thr751Ser                Missense


                                                       Page 14
                                      1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6595delA       p.Met2199Trpfs*44                       Met2180Trpfs*44          Frameshift
c.6602delG       p.Ser2201Ilefs*42                       Ser2182Ilefs*42          Frameshift
c.6610dupA       p.Ile2204Asnfs*33                       Ile2185Asnfs*33          Frameshift
c.6650delA       p.Asn2217Ilefs*26                       Asn2198Ilefs*26          Frameshift
c.6652_6653del   p.Met2218Valfs*18                       Met2199Valfs*18          Frameshift
c.6652dupA       p.Met2218Asnfs*19                       Met2199Asnfs*19          Frameshift
c.6699delG       p.Arg2234Glyfs*9                        Arg2215Glyfs*9           Frameshift
c.6738delA       p.Glu2247Serfs*11                       Glu2228Serfs*11          Frameshift
c.6740_6741del   p.Glu2247Valfs*137                      Glu2228Valfs*137         Frameshift
c.6760delC       p.Gln2254Argfs*4                        Gln2235Argfs*4           Frameshift
c.6787_6790dup   p.Thr2264Asnfs*122                      Thr2245Asnfs*122         Frameshift
c.6794_6795del   p.Gln2265Argfs*119                      Gln2246Argfs*119         Frameshift
c.6797delG       p.Gly2266Glufs*2                        Gly2247Glufs*2           Frameshift
c.6808_6809del   p.Leu2270Alafs*114                      Leu2251Alafs*114         Frameshift
c.6825delT       p.Tyr2275*                              Tyr2256*                 Frameshift
c.685_686del     p.Ser229Argfs*10                        Ser210Argfs*10           Frameshift
c.6856_6866del   p.Asp2286Valfs*95                       Asp2267Valfs*95          Frameshift
c.6875_6876del   p.Phe2294Serfs*90                       Phe2275Serfs*90          Frameshift
c.688_689del     p.Glu230Asnfs*9                         Glu211Asnfs*9            Frameshift
c.6881_6882del   p.Phe2294Serfs*90                       Phe2275Serfs*90          Frameshift
c.6882dupT       p.Gln2295Serfs*90                       Gln2276Serfs*90          Frameshift
c.6898_6899dup   Val2301Argfs*85                         Val2282Argfs*85          Frameshift
c.6907delC       p.Gln2303Argfs*11                       Gln2284Argfs*11          Frameshift
c.6912_6916del   p.Asn2305Argfs*78                       Asn2286Argfs*78          Frameshift
c.6915delT       p.Gln2306Lysfs*8                        Gln2287Lysfs*8           Frameshift
c.6916delC       p.Gln2306Lysfs*8                        Gln2287Lysfs*8           Frameshift
c.6919_6920del   p.Asp2307Leufs*77                       Asp2288Leufs*77          Frameshift
c.695_698del     p.Lys232Thrfs*3                         Lys213Thrfs*3            Frameshift
c.6953delC       p.Pro2318Hisfs*4                        Pro2299Hisfs*4           Frameshift
c.6963_6966dup   p.Arg2323Aspfs*63                       Arg2304Aspfs*63          Frameshift
c.6988_6989del   p.Gln2330Glufs*54                       Gln2311Glufs*54          Frameshift
c.6988delC       p.Gln2330Argfs*9                        Gln2311Argfs*9           Frameshift


                                                      Page 15
                                                       1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6997delG                          p.Val2333Cysfs*6                      Val2314Cysfs*6           Frameshift
c.7012delC                          p.Leu2338*                            Leu2319*                 Frameshift
c.7054delT                          p.*2352Gluext*42                      *2333Gluext*42           Frameshift
c.709_712dup                        p.Asp238Alafs*3                       Asp219Alafs*3            Frameshift
c.72_88del                          p.Tyr24*                              Tyr5*                    Frameshift
c.729delT                           p.Ala244Leufs*14                      Ala225Leufs*14           Frameshift
c.755_756del                        p.Thr252Serfs*32                      Thr233Serfs*32           Frameshift
c.763_785dup                        p.Gly263Valfs*3                       Gly244Valfs*3            Frameshift
c.770_771insCC                      p.Asn258Glnfs*8                       Asn239Glnfs*8            Frameshift
c.785delC                           p.Pro262Glnfs*3                       Pro243Glnfs*3            Frameshift
c.849delT                           p.Glu284Lysfs*14                      Glu265Lysfs*14           Frameshift
c.855dupG                           p.His286Alafs*52                      His267Alafs*52           Frameshift
c.858_859insA                       p.Ser287Ilefs*51                      Ser268Ilefs*51           Frameshift
c.889delG                           p.Val297*                             Val278*                  Frameshift
c.907delG                           p.Ala303Argfs*8                       Ala284Argfs*8            Frameshift
c.919delA                           p.Ile307Serfs*4                       Ile288Serfs*4            Frameshift
c.935delT                           p.Phe312Serfs*8                       Phe293Serfs*8            Frameshift
c.943delG                           p.Ala315Leufs*5                       Ala296Leufs*5            Frameshift
c.948_951del                        p.Gln316Hisfs*3                       Gln297Hisfs*3            Frameshift
c.95_99delinsATGCAAAGT              p.Ser32Tyrfs*4                        Ser13Tyrfs*4             Frameshift
c.953delT                           p.Leu318Profs*2                       Leu299Profs*2            Frameshift
c.954_955del                        p.Leu319Aspfs*18                      Leu300Aspfs*18           Frameshift
c.974_975del                        p.Phe325Serfs*12                      Phe306Serfs*12           Frameshift
c.985dupT                           p.Cys329Leufs*9                       Cys310Leufs*9            Frameshift
c.991_992del                        p.Ile331Leufs*6                       Ile312Leufs*6            Frameshift
c.[338+3485delins1687+2223_1687+2                                         del Exon 4-10            Large structural change (>50bp)
225;338+3551_1687+2291del]
c.1010-?_1443+?del                                                        del Exon 8-9             Large structural change (>50bp)
c.-1171-?_1271+?del                                                       del Promoter-Exon 8      Large structural change (>50bp)
c.-1171-?_143+?del                                                        del Promoter-Exon 1      Large structural change (>50bp)
c.-1171-?_670+?del                                                        del Promoter-Exon 5      Large structural change (>50bp)
c.-1171-?_787+?del                                                        del Promoter-Exon 6      Large structural change (>50bp)


                                                                       Page 16
                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1272-?_1752+?del                      del Exon 9-11            Large structural change (>50bp)
c.143+?_144-?inv                        inv 1                    Large structural change (>50bp)
c.143+1_601-?del                        del Intron 1-Exon 4      Large structural change (>50bp)
c.144-?_1271+?del                       del Exon 2-8             Large structural change (>50bp)
c.144-?_1443+?del                       del Exon 2-9             Large structural change (>50bp)
c.144-?_2113+?del                       del Exon 2-13            Large structural change (>50bp)
c.144-?_388+?del                        del Exon 2-3             Large structural change (>50bp)
c.144-?_5219+?dup                       dup Exon 2-14            Large structural change (>50bp)
c.144-?_601+?del                        del Exon 2-4             Large structural change (>50bp)
c.144-?_6429+?del                       del Exon 2-22            Large structural change (>50bp)
c.144-?_670+?del                        del Exon 2-5             Large structural change (>50bp)
c.144-?_6900+?del                       del Exon 2-25            Large structural change (>50bp)
c.144-?_6900+?dup                       dup Exon 2-25            Large structural change (>50bp)
c.144-?_787+?del                        del Exon 2-6             Large structural change (>50bp)
c.144-?_787+?dup                        dup Exon 2-6             Large structural change (>50bp)
c.1444-?_1537+?del                      del Exon 10              Large structural change (>50bp)
c.1444-?_1752+?del                      del Exon 10-11           Large structural change (>50bp)
c.1444-?_2113+?del                      del Exon 10-13           Large structural change (>50bp)
c.1444-?_5998+?del                      del Exon 10-18           Large structural change (>50bp)
c.1538-?_1752+?del                      del Exon 11              Large structural change (>50bp)
c.1538-?_6429+?del                      del Exon 11-22           Large structural change (>50bp)
c.1538-?_6900+?del                      del Exon 11-25           Large structural change (>50bp)
c.-171-?_1009+?del                      del Exon 1-7             Large structural change (>50bp)
c.-171-?_1271+?del                      del Exon 1-8             Large structural change (>50bp)
c.-171-?_143+?del                       del Exon 1               Large structural change (>50bp)
c.-171-?_5219+?del                      del Exon 1-14            Large structural change (>50bp)
c.-171-?_6429+?del                      del Exon 1-22            Large structural change (>50bp)
c.-171-?_670+?del                       del Exon 1-5             Large structural change (>50bp)
c.-171-?_670+?dup                       dup Exon 1-5             Large structural change (>50bp)
c.-171-?_7056+?del                      del Exon 1-26            Large structural change (>50bp)
c.-171-?_787+?del                       del Exon 1-6             Large structural change (>50bp)
c.1753-?_6900+?del                      del Exon 12-25           Large structural change (>50bp)


                                     Page 17
                        1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1904-?_2113+?del                         del Exon 13              Large structural change (>50bp)
c.1904-?_2113+?dup                         dup Exon 13              Large structural change (>50bp)
c.1904-?_6429+?del                         del Exon 13-22           Large structural change (>50bp)
c.1904-?_6574+?del                         del Exon 13-23           Large structural change (>50bp)
c.1904-?_6900+?del                         del Exon 13-25           Large structural change (>50bp)
c.1904-?_7056+?del                         del Exon 13-26           Large structural change (>50bp)
c.2113+1_5219+?del                         del Intron 13-Exon 14    Large structural change (>50bp)
c.2114-?_5219+?del                         del Exon 14              Large structural change (>50bp)
c.2114-?_5219+?dup                         dup Exon 14              Large structural change (>50bp)
c.2114-?_5586+?del                         del Exon 14-16           Large structural change (>50bp)
c.2114-?_6273+?del                         del Exon 14-21           Large structural change (>50bp)
c.2114-?_6273+?dup                         dup Exon 14-21           Large structural change (>50bp)
c.2114-?_6429+?del                         del Exon 14-22           Large structural change (>50bp)
c.2114-?_7056+?del                         del Exon 14-26           Large structural change (>50bp)
c.266-?_2113+?del                          del Exon 3-13            Large structural change (>50bp)
c.266-?_388+?del                           del Exon 3               Large structural change (>50bp)
c.266-?_601+?del                           del Exon 3-4             Large structural change (>50bp)
c.266-?_670+?del                           del Exon 3-5             Large structural change (>50bp)
c.3054_3065dupins3800                      ins 3.8 kb               Large structural change (>50bp)
c.3653_3655dupins2300                      ins 3.8 kb               Large structural change (>50bp)
c.3726_3728delins341                       Alu insert               Large structural change (>50bp)
c.389-?_1009+?del                          del Exon 4-7             Large structural change (>50bp)
c.389-?_1537+?del                          del Exon 4-10            Large structural change (>50bp)
c.389-?_601+?del                           del Exon 4               Large structural change (>50bp)
c.389-?_6273+?del                          del Exon 4-21            Large structural change (>50bp)
c.389-?_670+?del                           del Exon 4-5             Large structural change (>50bp)
c.389-?_6900+?del                          del Exon 4-25            Large structural change (>50bp)
c.389-?_787+?del                           del Exon 4-6             Large structural change (>50bp)
c.5220-?_5373+?del                         del Exon 15              Large structural change (>50bp)
c.5220-?_5998+?del                         del Exon 15-18           Large structural change (>50bp)
c.5220-?_6187+?del                         del Exon 15-20           Large structural change (>50bp)
c.5220-?_6273+?del                         del Exon 15-21           Large structural change (>50bp)


                                        Page 18
                       1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5220-?_6429+?del                        del Exon 15-22           Large structural change (>50bp)
c.5373+1_5586+?del                        del Intron 15-Exon 16    Large structural change (>50bp)
c.5374-?_5586+?del                        del Exon 16              Large structural change (>50bp)
c.5374-?_7056+?del                        del Exon 16-26           Large structural change (>50bp)
c.5587-?_5815+?del                        del Exon 17              Large structural change (>50bp)
c.5587-?_5815+?dup                        dup Exon 17              Large structural change (>50bp)
c.5587-?_6115+?del                        del Exon 17-19           Large structural change (>50bp)
c.5587-?_6429+?del                        del Exon 17-22           Large structural change (>50bp)
c.5779_5780insYb8Alu                      Alu Insert               Large structural change (>50bp)
c.5816-?_6115+?del                        del Exon 18-19           Large structural change (>50bp)
c.5999-?_6115+?del                        del Exon 19              Large structural change (>50bp)
c.5999-?_6273+?del                        del Exon 19-21           Large structural change (>50bp)
c.5999-?_6429+?del                        del Exon 19-22           Large structural change (>50bp)
c.602-?_1009+?del                         del Exon 5-7             Large structural change (>50bp)
c.602-?_1443+?del                         del Exon 5-9             Large structural change (>50bp)
c.602-?_1537+?del                         del Exon 5-10            Large structural change (>50bp)
c.602-?_2113+?del                         del Exon 5-13            Large structural change (>50bp)
c.602-?_5219+?del                         del Exon 5-14            Large structural change (>50bp)
c.602-?_670+?del                          del Exon 5               Large structural change (>50bp)
c.602-?_6900+?dup                         dup Exon 5-25            Large structural change (>50bp)
c.602-?_787+?del                          del Exon 5-6             Large structural change (>50bp)
c.6188-?_6429+?del                        del Exon 21-22           Large structural change (>50bp)
c.6274-?_6429+?del                        del Exon 22              Large structural change (>50bp)
c.6429+?_6430-?inv                        inv 22                   Large structural change (>50bp)
c.6429+1?_7056+?del                       del Intron 22-Exon 26    Large structural change (>50bp)
c.6430-?_6723+?del                        del Exon 23-24           Large structural change (>50bp)
c.6430-?_6900+?del                        del Exon 23-25           Large structural change (>50bp)
c.6430-?_6900+?dup                        dup Exon 23-25           Large structural change (>50bp)
c.6430-?_7056+?del                        del Exon 23-26           Large structural change (>50bp)
c.6575-?_6723+?del                        del Exon 24              Large structural change (>50bp)
c.6575-?_6900+?del                        del Exon 24-25           Large structural change (>50bp)
c.671-?_5219+?del                         del Exon 6-14            Large structural change (>50bp)


                                       Page 19
                                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.671-?_787+?del                                       del Exon 6               Large structural change (>50bp)
c.6724-?_6900+?del                                     del Exon 25              Large structural change (>50bp)
c.6724-?_7056+?del                                     del Exon 25              Large structural change (>50bp)
c.6901-?_*1802+?del                                    del Exon 26-3'UTR        Large structural change (>50bp)
c.6901-?_7056+?del                                     del Exon 26              Large structural change (>50bp)
c.788-?_1009+?del                                      del Exon 7               Large structural change (>50bp)
c.788-?_1443+?del                                      del Exon 7-9             Large structural change (>50bp)
c.788-?_1537+?del                                      del Exon 7-10            Large structural change (>50bp)
c.788-?_1752+?dup                                      dup Exon 7-11            Large structural change (>50bp)
c.788-?_2113+?del                                      del exon 7-13            Large structural change (>50bp)
c.788-?_5219+?del                                      del Exon 7-14            Large structural change (>50bp)
c.788-?_6187+?del                                      del Exon 7-20            Large structural change (>50bp)
c.788-?_6429+?del                                      del Exon 7-22            Large structural change (>50bp)
c.788-?_7056+?del                                      delExon 7-26             Large structural change (>50bp)
c.1009G>T             p.Asp337Tyr                      Asp318Tyr                Missense
c.1015A>G             p.Met339Val                      Met320Val                Missense
c.1016T>C             p.Met339Thr                      Met320Thr                Missense
c.1017G>A             p.Met339Ile                      Met320Ile                Missense
c.1018G>A             p.Glu340Lys                      Glu321Lys                Missense
c.1020A>C             p.Glu340Asp                      Glu321Asp                Missense
c.1025A>G             p.Tyr342Cys                      Tyr323Cys                Missense
c.102C>G              p.Asp34Glu                       Asp15Glu                 Missense
c.1033G>C             p.Val345Leu                      Val326Leu                Missense
c.1033G>T             p.Val345Leu                      Val326Leu                Missense
c.1034T>C             p.Val345Ala                      Val326Ala                Missense
c.103T>C              p.Tyr35His                       Tyr16His                 Missense
c.1042T>C             p.Cys348Arg                      Cys329Arg                Missense
c.1043G>A             p.Cys348Tyr                      Cys329Tyr                Missense
c.1043G>C             p.Cys348Ser                      Cys329Ser                Missense
c.104A>G              p.Tyr35Cys                       Tyr16Cys                 Missense
c.1094A>G             p.Tyr365Cys                      Tyr346Cys                Missense
c.1127T>G             p.Val376Gly                      Val357Gly                Missense


                                                    Page 20
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1169T>C   p.Ile390Thr                      Ile371Thr                Missense
c.1171C>G   p.Arg391Gly                      Arg372Gly                Missense
c.1171C>T   p.Arg391Cys                      Arg372Cys                Missense
c.1172G>A   p.Arg391His                      Arg372His                Missense
c.1172G>C   p.Arg391Pro                      Arg372Pro                Missense
c.1174T>C   p.Ser392Pro                      Ser373Pro                Missense
c.1175C>T   p.Ser392Leu                      Ser373Leu                Missense
c.1180G>T   p.Ala394Ser                      Ala375Ser                Missense
c.1184A>G   p.Lys395Arg                      Lys376Arg                Missense
c.1185G>C   p.Lys395Asn                      Lys376Asn                Missense
c.1195A>G   p.Lys399Glu                      Lys380Glu                Missense
c.1201T>G   p.Trp401Gly                      Trp382Gly                Missense
c.1207C>G   p.His403Asp                      His384Asp                Missense
c.1213A>T   p.Ile405Phe                      Ile386Phe                Missense
c.1214T>C   p.Ile405Thr                      Ile386Thr                Missense
c.1214T>G   p.Ile405Ser                      Ile386Ser                Missense
c.121G>T    p.Gly41Cys                       Gly22Cys                 Missense
c.1226A>G   p.Glu409Gly                      Glu390Gly                Missense
c.1232A>G   p.Asp411Gly                      Asp392Gly                Missense
c.1234T>C   p.Trp412Arg                      Trp393Arg                Missense
c.1234T>G   p.Trp412Gly                      Trp393Gly                Missense
c.1237G>C   p.Asp413His                      Asp394His                Missense
c.1237G>T   p.Asp413Tyr                      Asp394Tyr                Missense
c.1241A>G   p.Tyr414Cys                      Tyr395Cys                Missense
c.1244C>A   p.Ala415Asp                      Ala396Asp                Missense
c.1244C>T   p.Ala415Val                      Ala396Val                Missense
c.1247C>T   p.Pro416Leu                      Pro397Leu                Missense
c.1264G>C   p.Asp422His                      Asp403His                Missense
c.1292T>C   p.Leu431Ser                      Leu412Ser                Missense
c.1293G>T   p.Leu431Phe                      Leu412Phe                Missense
c.1301G>A   p.Gly434Asp                      Gly415Asp                Missense
c.1310G>C   p.Arg437Pro                      Arg418Pro                Missense


                                          Page 21
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1312A>T   p.Ile438Phe                      Ile419Phe                Missense
c.1313T>C   p.Ile438Thr                      Ile419Thr                Missense
c.1315G>A   p.Gly439Ser                      Gly420Ser                Missense
c.1315G>T   p.Gly439Cys                      Gly420Cys                Missense
c.1316G>A   p.Gly439Asp                      Gly420Asp                Missense
c.1316G>C   p.Gly439Ala                      Gly420Ala                Missense
c.1316G>T   p.Gly439Val                      Gly420Val                Missense
c.1324T>C   p.Tyr442His                      Tyr423His                Missense
c.1325A>G   p.Tyr442Cys                      Tyr423Cys                Missense
c.1331A>C   p.Lys444Thr                      Lys425Thr                Missense
c.1331A>G   p.Lys444Arg                      Lys425Arg                Missense
c.1332A>C   p.Lys444Asn                      Lys425Asn                Missense
c.1332A>T   p.Lys444Asn                      Lys425Asn                Missense
c.1333G>T   p.Val445Phe                      Val426Phe                Missense
c.1336C>G   p.Arg446Gly                      Arg427Gly                Missense
c.1337G>A   p.Arg446Gln                      Arg427Gln                Missense
c.1337G>C   p.Arg446Pro                      Arg427Pro                Missense
c.1348T>A   p.Tyr450Asn                      Tyr431Asn                Missense
c.1348T>G   p.Tyr450Asp                      Tyr431Asp                Missense
c.1349A>G   p.Tyr450Cys                      Tyr431Cys                Missense
c.1361C>T   p.Thr454Ile                      Thr435Ile                Missense
c.1364T>C   p.Phe455Ser                      Phe436Ser                Missense
c.1364T>G   p.Phe455Cys                      Phe436Cys                Missense
c.1396G>A   p.Gly466Arg                      Gly447Arg                Missense
c.1397G>A   p.Gly466Glu                      Gly447Glu                Missense
c.1400T>G   p.Ile467Ser                      Ile448Ser                Missense
c.1406G>A   p.Gly469Glu                      Gly450Glu                Missense
c.1406G>C   p.Gly469Ala                      Gly450Ala                Missense
c.1408C>A   p.Pro470Thr                      Pro451Thr                Missense
c.1409C>G   p.Pro470Arg                      Pro451Arg                Missense
c.1409C>T   p.Pro470Leu                      Pro451Leu                Missense
c.1415T>A   p.Leu472His                      Leu453His                Missense


                                          Page 22
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1420G>A   p.Gly474Arg                      Gly455Arg                Missense
c.1420G>T   p.Gly474Trp                      Gly455Trp                Missense
c.1421G>A   p.Gly474Glu                      Gly455Glu                Missense
c.1421G>T   p.Gly474Val                      Gly455Val                Missense
c.1423G>A   p.Glu475Lys                      Glu456Lys                Missense
c.1430G>T   p.Gly477Val                      Gly458Val                Missense
c.1432G>A   p.Asp478Asn                      Asp459Asn                Missense
c.1433A>G   p.Asp478Gly                      Asp459Gly                Missense
c.1434C>A   p.Asp478Glu                      Asp459Glu                Missense
c.1439T>C   p.Leu480Pro                      Leu461Pro                Missense
c.143G>A    p.Arg48Lys                       Arg29Lys                 Missense
c.1444A>T   p.Ile482Phe                      Ile463Phe                Missense
c.1445T>G   p.Ile482Ser                      Ile463Ser                Missense
c.1450T>G   p.Phe484Val                      Phe465Val                Missense
c.1451T>G   p.Phe484Cys                      Phe465Cys                Missense
c.1454A>C   p.Lys485Thr                      Lys466Thr                Missense
c.1457A>G   p.Asn486Ser                      Asn467Ser                Missense
c.1463C>A   p.Ala488Glu                      Ala469Glu                Missense
c.1463C>T   p.Ala488Val                      Ala469Val                Missense
c.1468A>G   p.Arg490Gly                      Arg471Gly                Missense
c.1474T>C   p.Tyr492His                      Tyr473His                Missense
c.1481T>C   p.Ile494Thr                      Ile475Thr                Missense
c.1487C>G   p.Pro496Arg                      Pro477Arg                Missense
c.1492G>A   p.Gly498Arg                      Gly479Arg                Missense
c.1505T>A   p.Val502Asp                      Val483Asp                Missense
c.1505T>G   p.Val502Gly                      Val483Gly                Missense
c.1537G>A   p.Gly513Ser                      Gly494Ser                Missense
c.1538G>T   p.Gly513Val                      Gly494Val                Missense
c.1573G>A   p.Gly525Arg                      Gly506Arg                Missense
c.1585A>G   p.Lys529Glu                      Lys510Glu                Missense
c.1587A>C   p.Lys529Asn                      Lys510Asn                Missense
c.1588T>C   p.Tyr530His                      Tyr511His                Missense


                                          Page 23
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1589A>G   p.Tyr530Cys                      Tyr511Cys                Missense
c.1594T>G   p.Trp532Gly                      Trp513Gly                Missense
c.1601T>G   p.Val534Gly                      Val515Gly                Missense
c.1615G>A   p.Gly539Arg                      Gly520Arg                Missense
c.1616G>A   p.Gly539Glu                      Gly520Glu                Missense
c.1618C>A   p.Pro540Thr                      Pro521Thr                Missense
c.1619C>G   p.Pro540Arg                      Pro521Arg                Missense
c.1621A>T   p.Thr541Ser                      Thr522Ser                Missense
c.1630G>A   p.Asp544Asn                      Asp525Asn                Missense
c.1632T>A   p.Asp544Glu                      Asp525Glu                Missense
c.1634C>A   p.Pro545His                      Pro526His                Missense
c.1636C>T   p.Arg546Trp                      Arg527Trp                Missense
c.1640G>A   p.Cys547Tyr                      Cys528Tyr                Missense
c.1641C>G   p.Cys547Trp                      Cys528Trp                Missense
c.1648C>G   p.Arg550Gly                      Arg531Gly                Missense
c.1648C>T   p.Arg550Cys                      Arg531Cys                Missense
c.1649G>A   p.Arg550His                      Arg531His                Missense
c.1654T>C   p.Tyr552His                      Tyr533His                Missense
c.1657T>C   p.Ser553Pro                      Ser534Pro                Missense
c.1658C>G   p.Ser553Cys                      Ser534Cys                Missense
c.1660A>G   p.Ser554Gly                      Ser535Gly                Missense
c.1667T>A   p.Val556Asp                      Val537Asp                Missense
c.1678A>G   p.Arg560Gly                      Arg541Gly                Missense
c.1679G>C   p.Arg560Thr                      Arg541Thr                Missense
c.1681G>A   p.Asp561Asn                      Asp542Asn                Missense
c.1681G>C   p.Asp561His                      Asp542His                Missense
c.1681G>T   p.Asp561Tyr                      Asp542Tyr                Missense
c.1682A>C   p.Asp561Ala                      Asp542Ala                Missense
c.1682A>G   p.Asp561Gly                      Asp542Gly                Missense
c.1685T>C   p.Leu562Pro                      Leu543Pro                Missense
c.1688C>G   p.Ala563Gly                      Ala544Gly                Missense
c.1693G>A   p.Gly565Arg                      Gly546Arg                Missense


                                          Page 24
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1696C>T   p.Leu566Phe                      Leu547Phe                Missense
c.1699A>T   p.Ile567Phe                      Ile548Phe                Missense
c.1700T>C   p.Ile567Thr                      Ile548Thr                Missense
c.1702G>A   p.Gly568Ser                      Gly549Ser                Missense
c.1703G>T   p.Gly568Val                      Gly549Val                Missense
c.1706C>G   p.Pro569Arg                      Pro550Arg                Missense
c.1714A>T   p.Ile572Phe                      Ile553Phe                Missense
c.1718G>A   p.Cys573Tyr                      Cys554Tyr                Missense
c.1726G>A   p.Glu576Lys                      Glu557Lys                Missense
c.1730C>A   p.Ser577Tyr                      Ser558Tyr                Missense
c.1730C>T   p.Ser577Phe                      Ser558Phe                Missense
c.1733T>C   p.Val578Ala                      Val559Ala                Missense
c.1735G>A   p.Asp579Asn                      Asp560Asn                Missense
c.1735G>C   p.Asp579His                      Asp560His                Missense
c.1736A>C   p.Asp579Ala                      Asp560Ala                Missense
c.1745G>A   p.Gly582Glu                      Gly563Glu                Missense
c.1745G>C   p.Gly582Ala                      Gly563Ala                Missense
c.1748A>G   p.Asn583Ser                      Asn564Ser                Missense
c.1750C>A   p.Gln584Lys                      Gln565Lys                Missense
c.1751A>G   p.Gln584Arg                      Gln565Arg                Missense
c.1752G>T   p.Gln584His                      Gln565His                Missense
c.1754T>C   p.Ile585Thr                      Ile566Thr                Missense
c.1754T>G   p.Ile585Arg                      Ile566Arg                Missense
c.1756A>G   p.Met586Val                      Met567Val                Missense
c.1762G>T   p.Asp588Tyr                      Asp569Tyr                Missense
c.1763A>G   p.Asp588Gly                      Asp569Gly                Missense
c.1781T>A   p.Leu594Gln                      Leu575Gln                Missense
c.1786T>C   p.Ser596Pro                      Ser577Pro                Missense
c.1795G>C   p.Asp599His                      Asp580His                Missense
c.1798G>C   p.Glu600Gln                      Glu581Gln                Missense
c.1800G>T   p.Glu600Asp                      Glu581Asp                Missense
c.1801A>G   p.Asn601Asp                      Asn582Asp                Missense


                                          Page 25
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1803C>G   p.Asn601Lys                      Asn582Lys                Missense
c.1804C>G   p.Arg602Gly                      Arg583Gly                Missense
c.1807A>G   p.Ser603Gly                      Ser584Gly                Missense
c.1807A>T   p.Ser603Cys                      Ser584Cys                Missense
c.1808G>C   p.Ser603Thr                      Ser584Thr                Missense
c.1808G>T   p.Ser603Ile                      Ser584Ile                Missense
c.1809C>G   p.Ser603Arg                      Ser584Arg                Missense
c.1810T>C   p.Trp604Arg                      Trp585Arg                Missense
c.1812G>C   p.Trp604Cys                      Trp585Cys                Missense
c.1813T>C   p.Tyr605His                      Tyr586His                Missense
c.1814A>C   p.Tyr605Ser                      Tyr586Ser                Missense
c.1826A>T   p.Asn609Ile                      Asn590Ile                Missense
c.1834C>T   p.Arg612Cys                      Arg593Cys                Missense
c.1835G>C   p.Arg612Pro                      Arg593Pro                Missense
c.1871A>T   p.Asp624Val                      Asp605Val                Missense
c.1891A>G   p.Asn631Asp                      Asn612Asp                Missense
c.1892A>G   p.Asn631Ser                      Asn612Ser                Missense
c.1892A>T   p.Asn631Ile                      Asn612Ile                Missense
c.1893C>A   p.Asn631Lys                      Asn612Lys                Missense
c.1897A>G   p.Met633Val                      Met614Val                Missense
c.1898T>G   p.Met633Arg                      Met614Arg                Missense
c.1899G>T   p.Met633Ile                      Met614Ile                Missense
c.1904G>A   p.Ser635Asn                      Ser616Asn                Missense
c.1907T>G   p.Ile636Ser                      Ile617Ser                Missense
c.1909A>G   p.Asn637Asp                      Asn618Asp                Missense
c.190G>A    p.Val64Met                       Val45Met                 Missense
c.1910A>G   p.Asn637Ser                      Asn618Ser                Missense
c.1910A>T   p.Asn637Ile                      Asn618Ile                Missense
c.1912G>A   p.Gly638Ser                      Gly619Ser                Missense
c.1913G>A   p.Gly638Asp                      Gly619Asp                Missense
c.1916A>G   p.Tyr639Cys                      Tyr620Cys                Missense
c.1918G>T   p.Val640Phe                      Val621Phe                Missense


                                          Page 26
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1922T>C   p.Phe641Ser                      Phe622Ser                Missense
c.1930T>G   p.Leu644Val                      Leu625Val                Missense
c.1931T>C   p.Leu644Ser                      Leu625Ser                Missense
c.1934A>C   p.Gln645Pro                      Gln626Pro                Missense
c.1945T>C   p.Cys649Arg                      Cys630Arg                Missense
c.1945T>G   p.Cys649Gly                      Cys630Gly                Missense
c.1946G>C   p.Cys649Ser                      Cys630Ser                Missense
c.1950G>C   p.Leu650Phe                      Leu631Phe                Missense
c.1957G>A   p.Val653Met                      Val634Met                Missense
c.1958T>C   p.Val653Ala                      Val634Ala                Missense
c.1963T>C   p.Tyr655His                      Tyr636His                Missense
c.1964A>G   p.Tyr655Cys                      Tyr636Cys                Missense
c.1966T>C   p.Trp656Arg                      Trp637Arg                Missense
c.1966T>G   p.Trp656Gly                      Trp637Gly                Missense
c.1976T>C   p.Leu659Pro                      Leu640Pro                Missense
c.1985G>C   p.Gly662Ala                      Gly643Ala                Missense
c.1988C>T   p.Ala663Val                      Ala644Val                Missense
c.1991A>C   p.Gln664Pro                      Gln645Pro                Missense
c.1991A>G   p.Gln664Arg                      Gln645Arg                Missense
c.1992G>C   p.Gln664His                      Gln645His                Missense
c.199A>G    p.Lys67Glu                       Lys48Glu                 Missense
c.1A>G      p.Met1Val                        Met-19Val                Missense
c.2008G>C   p.Val670Leu                      Val651Leu                Missense
c.2013C>G   p.Phe671Leu                      Phe652Leu                Missense
c.201G>C    p.Lys67Asn                       Lys48Asn                 Missense
c.201G>T    p.Lys67Asn                       Lys48Asn                 Missense
c.2021G>A   p.Gly674Glu                      Gly655Glu                Missense
c.2026A>T   p.Thr676Ser                      Thr657Ser                Missense
c.2029T>C   p.Phe677Leu                      Phe658Leu                Missense
c.2029T>G   p.Phe677Val                      Phe658Val                Missense
c.202A>C    p.Thr68Pro                       Thr49Pro                 Missense
c.202A>G    p.Thr68Ala                       Thr49Ala                 Missense


                                          Page 27
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.2037C>A   p.His679Gln                      His660Gln                Missense
c.203C>A    p.Thr68Asn                       Thr49Asn                 Missense
c.2043G>A   p.Met681Ile                      Met662Ile                Missense
c.2043G>C   p.Met681Ile                      Met662Ile                Missense
c.2043G>T   p.Met681Ile                      Met662Ile                Missense
c.2044G>T   p.Val682Phe                      Val663Phe                Missense
c.2047T>A   p.Tyr683Asn                      Tyr664Asn                Missense
c.2048A>G   p.Tyr683Cys                      Tyr664Cys                Missense
c.2057C>G   p.Thr686Arg                      Thr667Arg                Missense
c.2059C>T   p.Leu687Phe                      Leu668Phe                Missense
c.205C>G    p.Leu69Val                       Leu50Val                 Missense
c.2060T>C   p.Leu687Pro                      Leu668Pro                Missense
c.2063C>G   p.Thr688Ser                      Thr669Ser                Missense
c.2066T>G   p.Leu689Arg                      Leu670Arg                Missense
c.206T>C    p.Leu69Pro                       Leu50Pro                 Missense
c.2071C>T   p.Pro691Ser                      Pro672Ser                Missense
c.2077T>C   p.Ser693Pro                      Ser674Pro                Missense
c.2078C>T   p.Ser693Leu                      Ser674Leu                Missense
c.2081G>A   p.Gly694Glu                      Gly675Glu                Missense
c.2084A>G   p.Glu695Gly                      Glu676Gly                Missense
c.2087C>A   p.Thr696Asn                      Thr677Asn                Missense
c.2090T>A   p.Val697Asp                      Val678Asp                Missense
c.2090T>C   p.Val697Ala                      Val678Ala                Missense
c.2092T>C   p.Phe698Leu                      Phe679Leu                Missense
c.2095A>G   p.Met699Val                      Met680Val                Missense
c.2095A>T   p.Met699Leu                      Met680Leu                Missense
c.2096T>A   p.Met699Lys                      Met680Lys                Missense
c.2096T>C   p.Met699Thr                      Met680Thr                Missense
c.2097G>A   p.Met699Ile                      Met680Ile                Missense
c.209T>C    p.Phe70Ser                       Phe51Ser                 Missense
c.2102T>C   p.Met701Thr                      Met682Thr                Missense
c.2103G>A   p.Met701Ile                      Met682Ile                Missense


                                          Page 28
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.2107A>G   p.Asn703Asp                      Asn684Asp                Missense
c.2108A>G   p.Asn703Ser                      Asn684Ser                Missense
c.2113G>A   p.Gly705Ser                      Gly686Ser                Missense
c.2113G>C   p.Gly705Arg                      Gly686Arg                Missense
c.2114G>T   p.Gly705Val                      Gly686Val                Missense
c.2119T>C   p.Trp707Arg                      Trp688Arg                Missense
c.2128G>T   p.Gly710Trp                      Gly691Trp                Missense
c.2129G>T   p.Gly710Val                      Gly691Val                Missense
c.2131T>C   p.Cys711Arg                      Cys692Arg                Missense
c.2132G>A   p.Cys711Tyr                      Cys692Tyr                Missense
c.2132G>T   p.Cys711Phe                      Cys692Phe                Missense
c.2138A>T   p.Asn713Ile                      Asn694Ile                Missense
c.2141C>T   p.Ser714Leu                      Ser695Leu                Missense
c.2149C>T   p.Arg717Trp                      Arg698Trp                Missense
c.214G>A    p.Glu72Lys                       Glu53Lys                 Missense
c.214G>C    p.Glu72Gln                       Glu53Gln                 Missense
c.2150G>A   p.Arg717Gln                      Arg698Gln                Missense
c.2150G>T   p.Arg717Leu                      Arg698Leu                Missense
c.2156G>C   p.Arg719Thr                      Arg700Thr                Missense
c.2158G>A   p.Gly720Ser                      Gly701Ser                Missense
c.2158G>C   p.Gly720Arg                      Gly701Arg                Missense
c.2159G>A   p.Gly720Asp                      Gly701Asp                Missense
c.2159G>C   p.Gly720Ala                      Gly701Ala                Missense
c.2161A>C   p.Met721Leu                      Met702Leu                Missense
c.2161A>G   p.Met721Val                      Met702Val                Missense
c.2161A>T   p.Met721Leu                      Met702Leu                Missense
c.2163G>A   p.Met721Ile                      Met702Ile                Missense
c.2163G>C   p.Met721Ile                      Met702Ile                Missense
c.2167G>A   p.Ala723Thr                      Ala704Thr                Missense
c.2167G>T   p.Ala723Ser                      Ala704Ser                Missense
c.2168C>A   p.Ala723Asp                      Ala704Asp                Missense
c.216A>C    p.Glu72Asp                       Glu53Asp                 Missense


                                          Page 29
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.2172A>T   p.Leu724Phe                      Leu705Phe                Missense
c.2174T>A   p.Leu725Gln                      Leu706Gln                Missense
c.2179G>T   p.Val727Phe                      Val708Phe                Missense
c.217T>C    p.Phe73Leu                       Phe54Leu                 Missense
c.2188T>G   p.Cys730Gly                      Cys711Gly                Missense
c.2213A>G   p.Tyr738Cys                      Tyr719Cys                Missense
c.2215G>A   p.Glu739Lys                      Glu720Lys                Missense
c.2225A>G   p.Tyr742Cys                      Tyr723Cys                Missense
c.223G>T    p.Asp75Tyr                       Asp56Tyr                 Missense
c.2248C>G   p.Leu750Val                      Leu731Val                Missense
c.225T>A    p.Asp75Glu                       Asp56Glu                 Missense
c.2535C>A   p.Asp845Glu                      Asp826Glu                Missense
c.230T>C    p.Leu77Pro                       Leu58Pro                 Missense
c.242C>A    p.Ala81Asp                       Ala62Asp                 Missense
c.248C>G    p.Pro83Arg                       Pro64Arg                 Missense
c.250A>G    p.Arg84Gly                       Arg65Gly                 Missense
c.2734A>G   p.Asn912Asp                      Asn893Asp                Missense
c.265G>A    p.Gly89Ser                       Gly70Ser                 Missense
c.266G>A    p.Gly89Asp                       Gly70Asp                 Missense
c.266G>C    p.Gly89Ala                       Gly70Ala                 Missense
c.269T>C    p.Leu90Pro                       Leu71Pro                 Missense
c.2803C>G   p.Gln935Glu                      Gln916Glu                Missense
c.274G>A    p.Gly92Ser                       Gly73Ser                 Missense
c.275G>A    p.Gly92Asp                       Gly73Asp                 Missense
c.275G>T    p.Gly92Val                       Gly73Val                 Missense
c.277C>T    p.Pro93Ser                       Pro74Ser                 Missense
c.278C>T    p.Pro93Leu                       Pro74Leu                 Missense
c.2887G>A   p.Asp963Asn                      Asp944Asn                Missense
c.280A>T    p.Thr94Ser                       Thr75Ser                 Missense
c.283A>G    p.Ile95Val                       Ile76Val                 Missense
c.284T>A    p.Ile95Asn                       Ile76Asn                 Missense
c.284T>G    p.Ile95Ser                       Ile76Ser                 Missense


                                          Page 30
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.2994T>G   p.His998Gln                       His979Gln                Missense
c.289G>C    p.Ala97Pro                        Ala78Pro                 Missense
c.292G>A    p.Glu98Lys                        Glu79Lys                 Missense
c.293A>G    p.Glu98Gly                        Glu79Gly                 Missense
c.293A>T    p.Glu98Val                        Glu79Val                 Missense
c.296T>A    p.Val99Asp                        Val80Asp                 Missense
c.296T>C    p.Val99Ala                        Val80Ala                 Missense
c.3034G>C   p.Val1012Leu                      Val993Leu                Missense
c.2T>C      p.Met1Thr                         Met-19Thr                Missense
c.2T>G      p.Met1Arg                         Met-19Arg                Missense
c.301G>C    p.Asp101His                       Asp82His                 Missense
c.302A>G    p.Asp101Gly                       Asp82Gly                 Missense
c.302A>T    p.Asp101Val                       Asp82Val                 Missense
c.3196C>T   p.His1066Tyr                      His1047Tyr               Missense
c.308T>A    p.Val103Glu                       Val84Glu                 Missense
c.308T>C    p.Val103Ala                       Val84Ala                 Missense
c.311T>A    p.Val104Asp                       Val85Asp                 Missense
c.311T>C    p.Val104Ala                       Val85Ala                 Missense
c.3263C>T   p.Thr1088Ile                      Thr1069Ile               Missense
c.319C>T    p.Leu107Phe                       Leu88Phe                 Missense
c.323A>C    p.Lys108Thr                       Lys89Thr                 Missense
c.325A>C    p.Asn109His                       Asn90His                 Missense
c.3328A>T   p.Asn1110Tyr                      Asn1091Tyr               Missense
c.328A>G    p.Met110Val                       Met91Val                 Missense
c.3701A>T   p.His1234Leu                      His1215Leu               Missense
c.331G>A    p.Ala111Thr                       Ala92Thr                 Missense
c.3836G>A   p.Arg1279Lys                      Arg1260Lys               Missense
c.332C>T    p.Ala111Val                       Ala92Val                 Missense
c.337C>T    p.His113Tyr                       His94Tyr                 Missense
c.338A>G    p.His113Arg                       His94Arg                 Missense
c.339T>A    p.His113Gln                       His94Gln                 Missense
c.341C>T    p.Pro114Leu                       Pro95Leu                 Missense


                                           Page 31
                              1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.343G>T    p.Val115Phe                          Val96Phe                 Missense
c.344T>C    p.Val115Ala                          Val96Ala                 Missense
c.344T>G    p.Val115Gly                          Val96Gly                 Missense
c.348T>G    p.Ser116Arg                          Ser97Arg                 Missense
c.349C>T    p.Leu117Phe                          Leu98Phe                 Missense
c.350T>C    p.Leu117Pro                          Leu98Pro                 Missense
c.350T>G    p.Leu117Arg                          Leu98Arg                 Missense
c.353A>G    p.His118Arg                          His99Arg                 Missense
c.359T>A    p.Val120Asp                          Val101Asp                Missense
c.359T>C    p.Val120Ala                          Val101Ala                Missense
c.361G>A    p.Gly121Ser                          Gly102Ser                Missense
c.361G>C    p.Gly121Arg                          Gly102Arg                Missense
c.361G>T    p.Gly121Cys                          Gly102Cys                Missense
c.362G>C    p.Gly121Ala                          Gly102Ala                Missense
c.362G>T    p.Gly121Val                          Gly102Val                Missense
c.367T>C    p.Ser123Pro                          Ser104Pro                Missense
c.368C>G    p.Ser123Cys                          Ser104Cys                Missense
c.3986G>A   p.Arg1329His                         Arg1310His               Missense
c.377A>C    p.Lys126Thr                          Lys107Thr                Missense
c.4114A>G   p.Thr1372Ala                         Thr1353Ala               Missense
c.385G>A    p.Glu129Lys                          Glu110Lys                Missense
c.386A>T    p.Glu129Val                          Glu110Val                Missense
c.387G>T    p.Glu129Asp                          Glu110Asp                Missense
c.388G>C    p.Gly130Arg                          Gly111Arg                Missense
c.4333T>C   p.Ser1445Pro                         Ser1426Pro               Missense
c.395A>C    p.Glu132Ala                          Glu113Ala                Missense
c.396A>C    p.Glu132Asp                          Glu113Asp                Missense
c.4380T>A   p.Asn1460Lys                         Asn1441Lys               Missense
c.398A>C    p.Tyr133Ser                          Tyr114Ser                Missense
c.398A>G    p.Tyr133Cys                          Tyr114Cys                Missense
c.41delT    p.Leu14Cysfs*58                      Leu-6Cysfs*58            Frameshift
c.3G>C      p.Met1Ile                            Met-19Ile                Missense


                                              Page 32
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.403G>A    p.Asp135Asn                       Asp116Asn                Missense
c.403G>T    p.Asp135Tyr                       Asp116Tyr                Missense
c.404A>G    p.Asp135Gly                       Asp116Gly                Missense
c.405T>A    p.Asp135Glu                       Asp116Glu                Missense
c.407A>C    p.Gln136Pro                       Gln117Pro                Missense
c.409A>C    p.Thr137Pro                       Thr118Pro                Missense
c.409A>G    p.Thr137Ala                       Thr118Ala                Missense
c.410C>T    p.Thr137Ile                       Thr118Ile                Missense
c.4442T>C   p.Leu1481Pro                      Leu1462Pro               Missense
c.414T>G    p.Ser138Arg                       Ser119Arg                Missense
c.421G>A    p.Glu141Lys                       Glu122Lys                Missense
c.430G>A    p.Asp144Asn                       Asp125Asn                Missense
c.430G>T    p.Asp144Tyr                       Asp125Tyr                Missense
c.431A>C    p.Asp144Ala                       Asp125Ala                Missense
c.32T>C     p.Leu11Pro                        Leu-8Pro                 Missense
c.433G>C    p.Asp145His                       Asp126His                Missense
c.433G>T    p.Asp145Tyr                       Asp126Tyr                Missense
c.436A>G    p.Lys146Glu                       Lys127Glu                Missense
c.4589G>C   p.Ser1530Thr                      Ser1511Thr               Missense
c.440T>A    p.Val147Asp                       Val128Asp                Missense
c.4794G>T   p.Glu1598Asp                      Glu1579Asp               Missense
c.446C>G    p.Pro149Arg                       Pro130Arg                Missense
c.446C>T    p.Pro149Leu                       Pro130Leu                Missense
c.4828G>T   p.Ala1610Ser                      Ala1591Ser               Missense
c.460A>C    p.Thr154Pro                       Thr135Pro                Missense
c.460A>G    p.Thr154Ala                       Thr135Ala                Missense
c.463T>C    p.Tyr155His                       Tyr136His                Missense
c.476T>C    p.Val159Ala                       Val140Ala                Missense
c.38T>G     p.Leu13Arg                        Leu-6Arg                 Missense
c.4864G>A   p.Ala1622Thr                      Ala1603Thr               Missense
c.484G>A    p.Glu162Lys                       Glu143Lys                Missense
c.4972A>C   p.Asn1658His                      Asn1639His               Missense


                                           Page 33
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.489T>A         p.Asn163Lys                            Asn144Lys                Missense
c.490G>A         p.Gly164Ser                            Gly145Ser                Missense
c.491G>A         p.Gly164Asp                            Gly145Asp                Missense
c.491G>T         p.Gly164Val                            Gly145Val                Missense
c.493C>T         p.Pro165Ser                            Pro146Ser                Missense
c.494C>T         p.Pro165Leu                            Pro146Leu                Missense
c.496A>G         p.Met166Val                            Met147Val                Missense
c.4979C>T        p.Pro1660Leu                           Pro1641Leu               Missense
c.3G>A           p.Met1Ile                              Met-19Ile                Missense
c.498G>A         p.Met166Ile                            Met147Ile                Missense
c.5071_5075del   p.Met1691Glufs*5                       Met1672Glufs*5           Frameshift
c.5087T>C        p.Phe1696Ser                           Phe1677Ser               Missense
c.5093T>C        p.Ile1698Thr                           Ile1679Thr               Missense
c.508C>T         p.Pro170Ser                            Pro151Ser                Missense
c.5096A>G        p.Tyr1699Cys                           Tyr1680Cys               Missense
c.5096A>T        p.Tyr1699Phe                           Tyr1680Phe               Missense
c.5101G>A        p.Glu1701Lys                           Glu1682Lys               Missense
c.5110_5111dup   p.Asn1704Lysfs*28                      Asn1685Lysfs*28          Frameshift
c.5112_5113dup   p.Gln1705Leufs*27                      Gln1686Leufs*27          Frameshift
c.5113C>T        p.Gln1705*                             Gln1686*                 Nonsense
c.5122delC       p.Arg1708Alafs*23                                               Frameshift
c.5127C>A        p.Ser1709Arg                           Ser1690Arg               Missense
c.5140A>T        p.Thr1714Ser                           Thr1695Ser               Missense
c.5141C>G        p.Thr1714Arg                           Thr1695Arg               Missense
c.5143C>G        p.Arg1715Gly                           Arg1696Gly               Missense
c.5144G>A        p.Arg1715Gln                           Arg1696Gln               Missense
c.5144G>C        p.Arg1715Pro                           Arg1696Pro               Missense
c.514T>C         p.Cys172Arg                            Cys153Arg                Missense
c.5150A>G        p.Tyr1717Cys                           Tyr1698Cys               Missense
c.5154T>A        p.Phe1718Leu                           Phe1699Leu               Missense
c.5158G>A        p.Ala1720Thr                           Ala1701Thr               Missense
c.5159C>A        p.Ala1720Asp                           Ala1701Asp               Missense


                                                     Page 34
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5159C>T   p.Ala1720Val                      Ala1701Val               Missense
c.515G>T    p.Cys172Phe                       Cys153Phe                Missense
c.5167G>A   p.Glu1723Lys                      Glu1704Lys               Missense
c.516C>G    p.Cys172Trp                       Cys153Trp                Missense
c.5176T>C   p.Trp1726Arg                      Trp1707Arg               Missense
c.517C>T    p.Leu173Phe                       Leu154Phe                Missense
c.5180A>T   p.Asp1727Val                      Asp1708Val               Missense
c.5182T>C   p.Tyr1728His                      Tyr1709His               Missense
c.5183A>G   p.Tyr1728Cys                      Tyr1709Cys               Missense
c.5186G>A   p.Gly1729Glu                      Gly1710Glu               Missense
c.5188A>G   p.Met1730Val                      Met1711Val               Missense
c.518T>G    p.Leu173Arg                       Leu154Arg                Missense
c.520A>G    p.Thr174Ala                       Thr155Ala                Missense
c.5218A>G   p.Arg1740Gly                      Arg1721Gly               Missense
c.5219G>T   p.Arg1740Met                      Arg1721Met               Missense
c.521C>A    p.Thr174Asn                       Thr155Asn                Missense
c.524A>G    p.Tyr175Cys                       Tyr156Cys                Missense
c.5251A>C   p.Lys1751Gln                      Lys1732Gln               Missense
c.5251A>G   p.Lys1751Glu                      Lys1732Glu               Missense
c.5252A>G   p.Lys1751Arg                      Lys1732Arg               Missense
c.5253A>T   p.Lys1751Asn                      Lys1732Asn               Missense
c.5254G>A   p.Val1752Ile                      Val1733Ile               Missense
c.5254G>C   p.Val1752Leu                      Val1733Leu               Missense
c.5260T>C   p.Phe1754Leu                      Phe1735Leu               Missense
c.5269T>C   p.Phe1757Leu                      Phe1738Leu               Missense
c.526T>C    p.Ser176Pro                       Ser157Pro                Missense
c.5270T>G   p.Phe1757Cys                      Phe1738Cys               Missense
c.5275G>C   p.Asp1759His                      Asp1740His               Missense
c.5281T>C   p.Ser1761Pro                      Ser1742Pro               Missense
c.5284T>C   p.Phe1762Leu                      Phe1743Leu               Missense
c.5286T>A   p.Phe1762Leu                      Phe1743Leu               Missense
c.5291A>G   p.Gln1764Arg                      Gln1745Arg               Missense


                                           Page 35
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5302C>T   p.Arg1768Cys                      Arg1749Cys               Missense
c.5303G>A   p.Arg1768His                      Arg1749His               Missense
c.5305G>A   p.Gly1769Arg                      Gly1750Arg               Missense
c.5308G>A   p.Glu1770Lys                      Glu1751Lys               Missense
c.530A>G    p.Tyr177Cys                       Tyr158Cys                Missense
c.5312T>C   p.Leu1771Pro                      Leu1752Pro               Missense
c.5316T>A   p.Asn1772Lys                      Asn1753Lys               Missense
c.5320C>T   p.His1774Tyr                      His1755Tyr               Missense
c.5321A>G   p.His1774Arg                      His1755Arg               Missense
c.5321A>T   p.His1774Leu                      His1755Leu               Missense
c.5323T>G   p.Leu1775Val                      Leu1756Val               Missense
c.5324T>C   p.Leu1775Ser                      Leu1756Ser               Missense
c.5325G>C   p.Leu1775Phe                      Leu1756Phe               Missense
c.5327G>T   p.Gly1776Val                      Gly1757Val               Missense
c.5329C>T   p.Leu1777Phe                      Leu1758Phe               Missense
c.532C>G    p.Leu178Val                       Leu159Val                Missense
c.5330T>C   p.Leu1777Pro                      Leu1758Pro               Missense
c.5335G>A   p.Gly1779Arg                      Gly1760Arg               Missense
c.5336G>A   p.Gly1779Glu                      Gly1760Glu               Missense
c.5338C>T   p.Pro1780Ser                      Pro1761Ser               Missense
c.5339C>T   p.Pro1780Leu                      Pro1761Leu               Missense
c.5345T>G   p.Ile1782Arg                      Ile1763Arg               Missense
c.5348G>C   p.Arg1783Thr                      Arg1764Thr               Missense
c.5353G>A   p.Glu1785Lys                      Glu1766Lys               Missense
c.5354A>C   p.Glu1785Ala                      Glu1766Ala               Missense
c.5357T>G   p.Val1786Gly                      Val1767Gly               Missense
c.535T>C    p.Ser179Pro                       Ser160Pro                Missense
c.5362G>C   p.Asp1788His                      Asp1769His               Missense
c.5362G>T   p.Asp1788Tyr                      Asp1769Tyr               Missense
c.5363A>G   p.Asp1788Gly                      Asp1769Gly               Missense
c.536C>T    p.Ser179Phe                       Ser160Phe                Missense
c.5372T>C   p.Met1791Thr                      Met1772Thr               Missense


                                           Page 36
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5373G>A   p.Met1791Ile                      Met1772Ile               Missense
c.5375T>C   p.Val1792Ala                      Val1773Ala               Missense
c.5380T>C   p.Phe1794Leu                      Phe1775Leu               Missense
c.5381T>C   p.Phe1794Ser                      Phe1775Ser               Missense
c.5387A>G   p.Asn1796Ser                      Asn1777Ser               Missense
c.538C>T    p.His180Tyr                       His161Tyr                Missense
c.5392G>A   p.Ala1798Thr                      Ala1779Thr               Missense
c.5392G>C   p.Ala1798Pro                      Ala1779Pro               Missense
c.5392G>T   p.Ala1798Ser                      Ala1779Ser               Missense
c.5393C>T   p.Ala1798Val                      Ala1779Val               Missense
c.5395T>C   p.Ser1799Pro                      Ser1780Pro               Missense
c.5398C>A   p.Arg1800Ser                      Arg1781Ser               Missense
c.5398C>G   p.Arg1800Gly                      Arg1781Gly               Missense
c.5398C>T   p.Arg1800Cys                      Arg1781Cys               Missense
c.5399G>A   p.Arg1800His                      Arg1781His               Missense
c.5401C>G   p.Pro1801Ala                      Pro1782Ala               Missense
c.5405A>C   p.Tyr1802Ser                      Tyr1783Ser               Missense
c.5405A>G   p.Tyr1802Cys                      Tyr1783Cys               Missense
c.5407T>C   p.Ser1803Pro                      Ser1784Pro               Missense
c.5408C>A   p.Ser1803Tyr                      Ser1784Tyr               Missense
c.5411T>C   p.Phe1804Ser                      Phe1785Ser               Missense
c.5413T>A   p.Tyr1805Asn                      Tyr1786Asn               Missense
c.5414A>C   p.Tyr1805Ser                      Tyr1786Ser               Missense
c.5414A>G   p.Tyr1805Cys                      Tyr1786Cys               Missense
c.5419A>G   p.Ser1807Gly                      Ser1788Gly               Missense
c.541G>A    p.Val181Met                       Val162Met                Missense
c.5420G>C   p.Ser1807Thr                      Ser1788Thr               Missense
c.5422C>T   p.Leu1808Phe                      Leu1789Phe               Missense
c.5428T>C   p.Ser1810Pro                      Ser1791Pro               Missense
c.542T>A    p.Val181Glu                       Val162Glu                Missense
c.545A>C    p.Asp182Ala                       Asp163Ala                Missense
c.545A>T    p.Asp182Val                       Asp163Val                Missense


                                           Page 37
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5471A>T   p.Asn1824Ile                      Asn1805Ile               Missense
c.5500T>G   p.Tyr1834Asp                      Tyr1815Asp               Missense
c.5501A>G   p.Tyr1834Cys                      Tyr1815Cys               Missense
c.5522A>T   p.His1841Leu                      His1822Leu               Missense
c.5526G>A   p.Met1842Ile                      Met1823Ile               Missense
c.5527G>A   p.Ala1843Thr                      Ala1824Thr               Missense
c.5528C>T   p.Ala1843Val                      Ala1824Val               Missense
c.5530C>T   p.Pro1844Ser                      Pro1825Ser               Missense
c.5531C>A   p.Pro1844His                      Pro1825His               Missense
c.5531C>T   p.Pro1844Leu                      Pro1825Leu               Missense
c.5533A>C   p.Thr1845Pro                      Thr1826Pro               Missense
c.553A>G    p.Lys185Glu                       Lys166Glu                Missense
c.5540A>G   p.Asp1847Gly                      Asp1828Gly               Missense
c.5542G>A   p.Glu1848Lys                      Glu1829Lys               Missense
c.5543A>C   p.Glu1848Ala                      Glu1829Ala               Missense
c.5543A>G   p.Glu1848Gly                      Glu1829Gly               Missense
c.5543A>T   p.Glu1848Val                      Glu1829Val               Missense
c.5544G>C   p.Glu1848Asp                      Glu1829Asp               Missense
c.5546T>G   p.Phe1849Cys                      Phe1830Cys               Missense
c.554A>C    p.Lys185Thr                       Lys166Thr                Missense
c.5551T>C   p.Cys1851Arg                      Cys1832Arg               Missense
c.5554A>G   p.Lys1852Glu                      Lys1833Glu               Missense
c.5557G>A   p.Ala1853Thr                      Ala1834Thr               Missense
c.5558C>T   p.Ala1853Val                      Ala1834Val               Missense
c.555A>T    p.Lys185Asn                       Lys166Asn                Missense
c.5560T>G   p.Trp1854Gly                      Trp1835Gly               Missense
c.5562G>T   p.Trp1854Cys                      Trp1835Cys               Missense
c.5564C>A   p.Ala1855Asp                      Ala1836Asp               Missense
c.5567A>C   p.Tyr1856Ser                      Tyr1837Ser               Missense
c.5567A>G   p.Tyr1856Cys                      Tyr1837Cys               Missense
c.556G>A    p.Asp186Asn                       Asp167Asn                Missense
c.556G>C    p.Asp186His                       Asp167His                Missense


                                           Page 38
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.556G>T    p.Asp186Tyr                       Asp167Tyr                Missense
c.5573C>G   p.Ser1858Cys                      Ser1839Cys               Missense
c.5573C>T   p.Ser1858Phe                      Ser1839Phe               Missense
c.5576A>G   p.Asp1859Gly                      Asp1840Gly               Missense
c.557A>G    p.Asp186Gly                       Asp167Gly                Missense
c.5587G>A   p.Glu1863Lys                      Glu1844Lys               Missense
c.558C>A    p.Asp186Glu                       Asp167Glu                Missense
c.5590A>G   p.Lys1864Glu                      Lys1845Glu               Missense
c.5593G>A   p.Asp1865Asn                      Asp1846Asn               Missense
c.5593G>T   p.Asp1865Tyr                      Asp1846Tyr               Missense
c.5594A>G   p.Asp1865Gly                      Asp1846Gly               Missense
c.5595T>A   p.Asp1865Glu                      Asp1846Glu               Missense
c.5600A>C   p.His1867Pro                      His1848Pro               Missense
c.5600A>G   p.His1867Arg                      His1848Arg               Missense
c.5602T>C   p.Ser1868Pro                      Ser1849Pro               Missense
c.5603C>T   p.Ser1868Leu                      Ser1849Leu               Missense
c.5606G>A   p.Gly1869Asp                      Gly1850Asp               Missense
c.5606G>T   p.Gly1869Val                      Gly1850Val               Missense
c.5614G>A   p.Gly1872Arg                      Gly1853Arg               Missense
c.5615G>A   p.Gly1872Glu                      Gly1853Glu               Missense
c.5618C>G   p.Pro1873Arg                      Pro1854Arg               Missense
c.5618C>T   p.Pro1873Leu                      Pro1854Leu               Missense
c.5624T>C   p.Leu1875Pro                      Leu1856Pro               Missense
c.5626G>C   p.Val1876Leu                      Val1857Leu               Missense
c.5626G>T   p.Val1876Phe                      Val1857Phe               Missense
c.5629T>C   p.Cys1877Arg                      Cys1858Arg               Missense
c.5630G>A   p.Cys1877Tyr                      Cys1858Tyr               Missense
c.5645T>C   p.Leu1882Pro                      Leu1863Pro               Missense
c.5663G>T   p.Arg1888Ile                      Arg1869Ile               Missense
c.5667A>T   p.Gln1889His                      Gln1870His               Missense
c.566C>T    p.Ser189Leu                       Ser170Leu                Missense
c.5675T>G   p.Val1892Gly                      Val1873Gly               Missense


                                           Page 39
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5680G>A   p.Glu1894Lys                      Glu1875Lys               Missense
c.5681A>G   p.Glu1894Gly                      Glu1875Gly               Missense
c.5686G>C   p.Ala1896Pro                      Ala1877Pro               Missense
c.568G>T    p.Gly190Cys                       Gly171Cys                Missense
c.569G>A    p.Gly190Asp                       Gly171Asp                Missense
c.5701A>T   p.Ile1901Phe                      Ile1882Phe               Missense
c.5710G>A   p.Glu1904Lys                      Glu1885Lys               Missense
c.5711A>G   p.Glu1904Gly                      Glu1885Gly               Missense
c.5712G>C   p.Glu1904Asp                      Glu1885Asp               Missense
c.5719A>T   p.Ser1907Cys                      Ser1888Cys               Missense
c.5720G>T   p.Ser1907Ile                      Ser1888Ile               Missense
c.5721C>G   p.Ser1907Arg                      Ser1888Arg               Missense
c.5723G>T   p.Trp1908Leu                      Trp1889Leu               Missense
c.5726A>G   p.Tyr1909Cys                      Tyr1890Cys               Missense
c.5738A>G   p.Asn1913Ser                      Asn1894Ser               Missense
c.5739T>G   p.Asn1913Lys                      Asn1894Lys               Missense
c.575T>C    p.Ile192Thr                       Ile173Thr                Missense
c.577G>A    p.Gly193Arg                       Gly174Arg                Missense
c.578G>A    p.Gly193Glu                       Gly174Glu                Missense
c.57T>G     p.Ser19Arg                        Ser0Arg                  Missense
c.580G>A    p.Ala194Thr                       Ala175Thr                Missense
c.5810T>C   p.Phe1937Ser                      Phe1918Ser               Missense
c.5813A>G   p.His1938Arg                      His1919Arg               Missense
c.5813A>T   p.His1938Leu                      His1919Leu               Missense
c.5815G>A   p.Ala1939Thr                      Ala1920Thr               Missense
c.5816C>A   p.Ala1939Glu                      Ala1920Glu               Missense
c.5819T>A   p.Ile1940Asn                      Ile1921Asn               Missense
c.5821A>G   p.Asn1941Asp                      Asn1922Asp               Missense
c.5822A>G   p.Asn1941Ser                      Asn1922Ser               Missense
c.5822A>T   p.Asn1941Ile                      Asn1922Ile               Missense
c.5823T>A   p.Asn1941Lys                      Asn1922Lys               Missense
c.5824G>A   p.Gly1942Ser                      Gly1923Ser               Missense


                                           Page 40
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5825G>A   p.Gly1942Asp                      Gly1923Asp               Missense
c.5825G>C   p.Gly1942Ala                      Gly1923Ala               Missense
c.5825G>T   p.Gly1942Val                      Gly1923Val               Missense
c.5828A>G   p.Tyr1943Cys                      Tyr1924Cys               Missense
c.5833A>G   p.Met1945Val                      Met1926Val               Missense
c.5837A>T   p.Asp1946Val                      Asp1927Val               Missense
c.5843T>C   p.Leu1948Pro                      Leu1929Pro               Missense
c.5843T>G   p.Leu1948Arg                      Leu1929Arg               Missense
c.584T>C    p.Leu195Pro                       Leu176Pro                Missense
c.584T>G    p.Leu195Arg                       Leu176Arg                Missense
c.5853A>C   p.Leu1951Phe                      Leu1932Phe               Missense
c.5853A>T   p.Leu1951Phe                      Leu1932Phe               Missense
c.5879G>A   p.Arg1960Gln                      Arg1941Gln               Missense
c.5879G>T   p.Arg1960Leu                      Arg1941Leu               Missense
c.5881T>A   p.Trp1961Arg                      Trp1942Arg               Missense
c.5881T>C   p.Trp1961Arg                      Trp1942Arg               Missense
c.5884T>G   p.Tyr1962Asp                      Tyr1943Asp               Missense
c.5885A>G   p.Tyr1962Cys                      Tyr1943Cys               Missense
c.5888T>C   p.Leu1963Pro                      Leu1944Pro               Missense
c.5894G>T   p.Ser1965Ile                      Ser1946Ile               Missense
c.5896A>G   p.Met1966Val                      Met1947Val               Missense
c.5898G>A   p.Met1966Ile                      Met1947Ile               Missense
c.5899G>C   p.Gly1967Arg                      Gly1948Arg               Missense
c.589G>C    p.Val197Leu                       Val178Leu                Missense
c.5900G>A   p.Gly1967Asp                      Gly1948Asp               Missense
c.5904C>A   p.Ser1968Arg                      Ser1949Arg               Missense
c.590T>G    p.Val197Gly                       Val178Gly                Missense
c.5912A>C   p.Asn1971Thr                      Asn1952Thr               Missense
c.5918A>G   p.His1973Arg                      His1954Arg               Missense
c.5918A>T   p.His1973Leu                      His1954Leu               Missense
c.5924T>A   p.Ile1975Asn                      Ile1956Asn               Missense
c.5924T>C   p.Ile1975Thr                      Ile1956Thr               Missense


                                           Page 41
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5927A>G   p.His1976Arg                      His1957Arg               Missense
c.592T>C    p.Cys198Arg                       Cys179Arg                Missense
c.592T>G    p.Cys198Gly                       Cys179Gly                Missense
c.5932A>G   p.Ser1978Gly                      Ser1959Gly               Missense
c.5934T>G   p.Ser1978Arg                      Ser1959Arg               Missense
c.5936G>A   p.Gly1979Glu                      Gly1960Glu               Missense
c.5936G>T   p.Gly1979Val                      Gly1960Val               Missense
c.5938C>G   p.His1980Asp                      His1961Asp               Missense
c.5938C>T   p.His1980Tyr                      His1961Tyr               Missense
c.5939A>C   p.His1980Pro                      His1961Pro               Missense
c.5939A>G   p.His1980Arg                      His1961Arg               Missense
c.5941G>A   p.Val1981Met                      Val1962Met               Missense
c.5941G>C   p.Val1981Leu                      Val1962Leu               Missense
c.5944T>A   p.Phe1982Ile                      Phe1963Ile               Missense
c.5944T>C   p.Phe1982Leu                      Phe1963Leu               Missense
c.5954G>A   p.Arg1985Gln                      Arg1966Gln               Missense
c.5957A>T   p.Lys1986Ile                      Lys1967Ile               Missense
c.5976G>A   p.Met1992Ile                      Met1973Ile               Missense
c.5981T>C   p.Leu1994Pro                      Leu1975Pro               Missense
c.5989C>T   p.Leu1997Phe                      Leu1978Phe               Missense
c.5993A>C   p.Tyr1998Ser                      Tyr1979Ser               Missense
c.5993A>G   p.Tyr1998Cys                      Tyr1979Cys               Missense
c.5996C>T   p.Pro1999Leu                      Pro1980Leu               Missense
c.5998G>A   p.Gly2000Ser                      Gly1981Ser               Missense
c.5999G>A   p.Gly2000Asp                      Gly1981Asp               Missense
c.5999G>C   p.Gly2000Ala                      Gly1981Ala               Missense
c.5999G>T   p.Gly2000Val                      Gly1981Val               Missense
c.599A>G    p.Glu200Gly                       Glu181Gly                Missense
c.6011C>T   p.Thr2004Ile                      Thr1985Ile               Missense
c.6013G>A   p.Val2005Met                      Val1986Met               Missense
c.6016G>A   p.Glu2006Lys                      Glu1987Lys               Missense
c.601G>A    p.Gly201Arg                       Gly182Arg                Missense


                                           Page 42
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.601G>C    p.Gly201Arg                       Gly182Arg                Missense
c.6021G>A   p.Met2007Ile                      Met1988Ile               Missense
c.602G>A    p.Gly201Glu                       Gly182Glu                Missense
c.6037G>A   p.Gly2013Arg                      Gly1994Arg               Missense
c.6043T>C   p.Trp2015Arg                      Trp1996Arg               Missense
c.6045G>C   p.Trp2015Cys                      Trp1996Cys               Missense
c.6045G>T   p.Trp2015Cys                      Trp1996Cys               Missense
c.6046C>G   p.Arg2016Gly                      Arg1997Gly               Missense
c.6046C>T   p.Arg2016Trp                      Arg1997Trp               Missense
c.6047G>A   p.Arg2016Gln                      Arg1997Gln               Missense
c.6047G>C   p.Arg2016Pro                      Arg1997Pro               Missense
c.6049G>A   p.Val2017Met                      Val1998Met               Missense
c.6053A>G   p.Glu2018Gly                      Glu1999Gly               Missense
c.605G>A    p.Ser202Asn                       Ser183Asn                Missense
c.6065G>A   p.Gly2022Asp                      Gly2003Asp               Missense
c.6067G>A   p.Glu2023Lys                      Glu2004Lys               Missense
c.606T>G    p.Ser202Arg                       Ser183Arg                Missense
c.6082G>A   p.Gly2028Arg                      Gly2009Arg               Missense
c.6087G>A   p.Met2029Ile                      Met2010Ile               Missense
c.6087G>T   p.Met2029Ile                      Met2010Ile               Missense
c.6089G>A   p.Ser2030Asn                      Ser2011Asn               Missense
c.608T>G    p.Leu203Arg                       Leu184Arg                Missense
c.6092C>T   p.Thr2031Ile                      Thr2012Ile               Missense
c.6104T>C   p.Val2035Ala                      Val2016Ala               Missense
c.6104T>G   p.Val2035Gly                      Val2016Gly               Missense
c.6107A>G   p.Tyr2036Cys                      Tyr2017Cys               Missense
c.6113A>G   p.Asn2038Ser                      Asn2019Ser               Missense
c.6118T>G   p.Cys2040Gly                      Cys2021Gly               Missense
c.6119G>A   p.Cys2040Tyr                      Cys2021Tyr               Missense
c.6131T>C   p.Leu2044Pro                      Leu2025Pro               Missense
c.6133G>A   p.Gly2045Arg                      Gly2026Arg               Missense
c.6134G>A   p.Gly2045Glu                      Gly2026Glu               Missense


                                           Page 43
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6134G>T   p.Gly2045Val                      Gly2026Val               Missense
c.6140C>G   p.Ala2047Gly                      Ala2028Gly               Missense
c.6151A>G   p.Ile2051Val                      Ile2032Val               Missense
c.6151A>T   p.Ile2051Phe                      Ile2032Phe               Missense
c.6152T>G   p.Ile2051Ser                      Ile2032Ser               Missense
c.6167T>A   p.Ile2056Asn                      Ile2037Asn               Missense
c.6172G>C   p.Ala2058Pro                      Ala2039Pro               Missense
c.6179G>T   p.Gly2060Val                      Gly2041Val               Missense
c.6193T>C   p.Trp2065Arg                      Trp2046Arg               Missense
c.6197C>T   p.Ala2066Val                      Ala2047Val               Missense
c.6200C>T   p.Pro2067Leu                      Pro2048Leu               Missense
c.6208G>A   p.Ala2070Thr                      Ala2051Thr               Missense
c.6209C>T   p.Ala2070Val                      Ala2051Val               Missense
c.6213A>T   p.Arg2071Ser                      Arg2052Ser               Missense
c.6214C>T   p.Leu2072Phe                      Leu2053Phe               Missense
c.6238G>A   p.Ala2080Thr                      Ala2061Thr               Missense
c.6239C>A   p.Ala2080Asp                      Ala2061Asp               Missense
c.6239C>T   p.Ala2080Val                      Ala2061Val               Missense
c.6242G>C   p.Trp2081Ser                      Trp2062Ser               Missense
c.6243G>C   p.Trp2081Cys                      Trp2062Cys               Missense
c.6245G>A   p.Ser2082Asn                      Ser2063Asn               Missense
c.6263C>T   p.Ser2088Phe                      Ser2069Phe               Missense
c.6267G>C   p.Trp2089Cys                      Trp2070Cys               Missense
c.6267G>T   p.Trp2089Cys                      Trp2070Cys               Missense
c.6268A>C   p.Ile2090Leu                      Ile2071Leu               Missense
c.6269T>A   p.Ile2090Asn                      Ile2071Asn               Missense
c.6274G>A   p.Val2092Met                      Val2073Met               Missense
c.6277G>T   p.Asp2093Tyr                      Asp2074Tyr               Missense
c.6278A>G   p.Asp2093Gly                      Asp2074Gly               Missense
c.6301C>G   p.His2101Asp                      His2082Asp               Missense
c.6314C>A   p.Thr2105Asn                      Thr2086Asn               Missense
c.6314C>T   p.Thr2105Ile                      Thr2086Ile               Missense


                                           Page 44
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6316C>G   p.Gln2106Glu                      Gln2087Glu               Missense
c.6317A>C   p.Gln2106Pro                      Gln2087Pro               Missense
c.6317A>G   p.Gln2106Arg                      Gln2087Arg               Missense
c.6319G>A   p.Gly2107Ser                      Gly2088Ser               Missense
c.6320G>A   p.Gly2107Asp                      Gly2088Asp               Missense
c.6325C>T   p.Arg2109Cys                      Arg2090Cys               Missense
c.6344T>C   p.Leu2115Pro                      Leu2096Pro               Missense
c.6349A>T   p.Ile2117Phe                      Ile2098Phe               Missense
c.6350T>G   p.Ile2117Ser                      Ile2098Ser               Missense
c.6353C>T   p.Ser2118Phe                      Ser2099Phe               Missense
c.6355C>G   p.Gln2119Glu                      Gln2100Glu               Missense
c.6356A>G   p.Gln2119Arg                      Gln2100Arg               Missense
c.6359T>G   p.Phe2120Cys                      Phe2101Cys               Missense
c.6360T>G   p.Phe2120Leu                      Phe2101Leu               Missense
c.6371A>G   p.Tyr2124Cys                      Tyr2105Cys               Missense
c.6374G>C   p.Ser2125Thr                      Ser2106Thr               Missense
c.6403C>G   p.Arg2135Gly                      Arg2116Gly               Missense
c.6404G>C   p.Arg2135Pro                      Arg2116Pro               Missense
c.6406G>A   p.Gly2136Arg                      Gly2117Arg               Missense
c.6407G>A   p.Gly2136Glu                      Gly2117Glu               Missense
c.640T>G    p.Phe214Val                       Phe195Val                Missense
c.6413C>A   p.Ser2138Tyr                      Ser2119Tyr               Missense
c.6413C>T   p.Ser2138Phe                      Ser2119Phe               Missense
c.6419G>A   p.Gly2140Glu                      Gly2121Glu               Missense
c.641T>G    p.Phe214Cys                       Phe195Cys                Missense
c.6422C>A   p.Thr2141Asn                      Thr2122Asn               Missense
c.6427A>G   p.Met2143Val                      Met2124Val               Missense
c.6428T>C   p.Met2143Thr                      Met2124Thr               Missense
c.642T>G    p.Phe214Leu                       Phe195Leu                Missense
c.6434T>C   p.Phe2145Ser                      Phe2126Ser               Missense
c.6434T>G   p.Phe2145Cys                      Phe2126Cys               Missense
c.6437T>C   p.Phe2146Ser                      Phe2127Ser               Missense


                                           Page 45
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6439G>A   p.Gly2147Ser                      Gly2128Ser               Missense
c.6440G>A   p.Gly2147Asp                      Gly2128Asp               Missense
c.6442A>G   p.Asn2148Asp                      Asn2129Asp               Missense
c.6443A>G   p.Asn2148Ser                      Asn2129Ser               Missense
c.6449A>T   p.Asp2150Val                      Asp2131Val               Missense
c.6454T>C   p.Ser2152Pro                      Ser2133Pro               Missense
c.645A>G    p.Ile215Met                       Ile196Met                Missense
c.6463A>G   p.Lys2155Glu                      Lys2136Glu               Missense
c.6469A>G   p.Asn2157Asp                      Asn2138Asp               Missense
c.647T>A    p.Leu216Gln                       Leu197Gln                Missense
c.6481C>A   p.Pro2161Thr                      Pro2142Thr               Missense
c.6481C>T   p.Pro2161Ser                      Pro2142Ser               Missense
c.6485C>T   p.Pro2162Leu                      Pro2143Leu               Missense
c.6488T>G   p.Ile2164Ser                      Ile2145Ser               Missense
c.6494C>T   p.Ala2165Val                      Ala2146Val               Missense
c.6496C>G   p.Arg2166Gly                      Arg2147Gly               Missense
c.6497C>T   p.Arg2166Leu                      Arg2147Leu               Missense
c.64A>G     p.Arg22Gly                        Arg3Gly                  Missense
c.6505C>T   p.Arg2169Cys                      Arg2150Cys               Missense
c.6506G>A   p.Arg2169His                      Arg2150His               Missense
c.6506G>T   p.Arg2169Leu                      Arg2150Leu               Missense
c.650T>A    p.Leu217His                       Leu198His                Missense
c.650T>C    p.Leu217Pro                       Leu198Pro                Missense
c.650T>G    p.Leu217Arg                       Leu198Arg                Missense
c.6515C>A   p.Pro2172Gln                      Pro2153Gln               Missense
c.6515C>T   p.Pro2172Leu                      Pro2153Leu               Missense
c.6517A>G   p.Thr2173Ala                      Thr2154Ala               Missense
c.6518C>A   p.Thr2173Asn                      Thr2154Asn               Missense
c.6518C>T   p.Thr2173Ile                      Thr2154Ile               Missense
c.6520C>G   p.His2174Asp                      His2155Asp               Missense
c.6520C>T   p.His2174Tyr                      His2155Tyr               Missense
c.6528C>G   p.Ser2176Arg                      Ser2157Arg               Missense


                                           Page 46
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6532C>T   p.Arg2178Cys                      Arg2159Cys               Missense
c.6533G>A   p.Arg2178His                      Arg2159His               Missense
c.6533G>T   p.Arg2178Leu                      Arg2159Leu               Missense
c.6537C>G   p.Ser2179Arg                      Ser2160Arg               Missense
c.6542T>C   p.Leu2181Pro                      Leu2162Pro               Missense
c.6544C>G   p.Arg2182Gly                      Arg2163Gly               Missense
c.6544C>T   p.Arg2182Cys                      Arg2163Cys               Missense
c.6545G>A   p.Arg2182His                      Arg2163His               Missense
c.6545G>T   p.Arg2182Leu                      Arg2163Leu               Missense
c.6547A>G   p.Met2183Val                      Met2164Val               Missense
c.6548T>G   p.Met2183Arg                      Met2164Arg               Missense
c.6551A>C   p.Glu2184Ala                      Glu2165Ala               Missense
c.6551A>T   p.Glu2184Val                      Glu2165Val               Missense
c.6554T>C   p.Leu2185Ser                      Leu2166Ser               Missense
c.6554T>G   p.Leu2185Trp                      Leu2166Trp               Missense
c.6557T>A   p.Met2186Lys                      Met2167Lys               Missense
c.655G>A    p.Ala219Thr                       Ala200Thr                Missense
c.655G>C    p.Ala219Pro                       Ala200Pro                Missense
c.6563G>A   p.Cys2188Tyr                      Cys2169Tyr               Missense
c.656C>A    p.Ala219Asp                       Ala200Asp                Missense
c.6575G>T   p.Ser2192Ile                      Ser2173Ile               Missense
c.6577T>G   p.Cys2193Gly                      Cys2174Gly               Missense
c.6578G>A   p.Cys2193Tyr                      Cys2174Tyr               Missense
c.658G>C    p.Val220Leu                       Val201Leu                Missense
c.6592G>A   p.Gly2198Arg                      Gly2179Arg               Missense
c.6593G>A   p.Gly2198Glu                      Gly2179Glu               Missense
c.6593G>T   p.Gly2198Val                      Gly2179Val               Missense
c.659T>G    p.Val220Gly                       Val201Gly                Missense
c.65G>C     p.Arg22Thr                        Arg3Thr                  Missense
c.65G>T     p.Arg22Ile                        Arg3Ile                  Missense
c.6600G>T   p.Glu2200Asp                      Glu2181Asp               Missense
c.6602G>T   p.Ser2201Ile                      Ser2182Ile               Missense


                                           Page 47
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6611T>A   p.Ile2204Lys                      Ile2185Lys               Missense
c.6611T>C   p.Ile2204Thr                      Ile2185Thr               Missense
c.6622C>G   p.Gln2208Glu                      Gln2189Glu               Missense
c.6623A>C   p.Gln2208Pro                      Gln2189Pro               Missense
c.6623A>G   p.Gln2208Arg                      Gln2189Arg               Missense
c.6626T>A   p.Ile2209Asn                      Ile2190Asn               Missense
c.6631G>C   p.Ala2211Pro                      Ala2192Pro               Missense
c.6637T>C   p.Ser2213Pro                      Ser2194Pro               Missense
c.6638C>A   p.Ser2213Tyr                      Ser2194Tyr               Missense
c.6638C>G   p.Ser2213Cys                      Ser2194Cys               Missense
c.6638C>T   p.Ser2213Phe                      Ser2194Phe               Missense
c.6652A>G   p.Met2218Val                      Met2199Val               Missense
c.6658G>C   p.Ala2220Pro                      Ala2201Pro               Missense
c.665A>G    p.Asp222Gly                       Asp203Gly                Missense
c.665A>T    p.Asp222Val                       Asp203Val                Missense
c.6671C>T   p.Pro2224Leu                      Pro2205Leu               Missense
c.667G>A    p.Glu223Lys                       Glu204Lys                Missense
c.6680C>T   p.Ala2227Val                      Ala2208Val               Missense
c.6682C>G   p.Arg2228Gly                      Arg2209Gly               Missense
c.6683G>A   p.Arg2228Gln                      Arg2209Gln               Missense
c.6683G>C   p.Arg2228Pro                      Arg2209Pro               Missense
c.6683G>T   p.Arg2228Leu                      Arg2209Leu               Missense
c.6685C>T   p.Leu2229Phe                      Leu2210Phe               Missense
c.6686T>C   p.Leu2229Pro                      Leu2210Pro               Missense
c.669A>T    p.Glu223Asp                       Glu204Asp                Missense
c.6709G>A   p.Ala2237Thr                      Ala2218Thr               Missense
c.670G>T    p.Gly224Trp                       Gly205Trp                Missense
c.6714G>C   p.Trp2238Cys                      Trp2219Cys               Missense
c.6724G>A   p.Val2242Met                      Val2223Met               Missense
c.6739G>A   p.Glu2247Lys                      Glu2228Lys               Missense
c.6742T>C   p.Trp2248Arg                      Trp2229Arg               Missense
c.6743G>C   p.Trp2248Ser                      Trp2229Ser               Missense


                                           Page 48
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6744G>T   p.Trp2248Cys                      Trp2229Cys               Missense
c.6746T>C   p.Leu2249Pro                      Leu2230Pro               Missense
c.6746T>G   p.Leu2249Arg                      Leu2230Arg               Missense
c.6750A>C   p.Gln2250His                      Gln2231His               Missense
c.6752T>A   p.Val2251Glu                      Val2232Glu               Missense
c.6752T>C   p.Val2251Ala                      Val2232Ala               Missense
c.6752T>G   p.Val2251Gly                      Val2232Gly               Missense
c.6758T>C   p.Phe2253Ser                      Phe2234Ser               Missense
c.676A>T    p.Ser226Cys                       Ser207Cys                Missense
c.6772A>G   p.Lys2258Glu                      Lys2239Glu               Missense
c.6776T>C   p.Val2259Ala                      Val2240Ala               Missense
c.677G>T    p.Ser226Ile                       Ser207Ile                Missense
c.6785T>C   p.Val2262Ala                      Val2243Ala               Missense
c.6790A>G   p.Thr2264Ala                      Thr2245Ala               Missense
c.6793C>A   p.Gln2265Lys                      Gln2246Lys               Missense
c.6794A>G   p.Gln2265Arg                      Gln2246Arg               Missense
c.6796G>A   p.Gly2266Arg                      Gly2247Arg               Missense
c.6796G>C   p.Gly2266Arg                      Gly2247Arg               Missense
c.6797G>A   p.Gly2266Glu                      Gly2247Glu               Missense
c.679T>G    p.Trp227Gly                       Trp208Gly                Missense
c.67A>G     p.Arg23Gly                        Arg4Gly                  Missense
c.6814A>C   p.Thr2272Pro                      Thr2253Pro               Missense
c.6814A>T   p.Thr2272Ser                      Thr2253Ser               Missense
c.6821T>A   p.Met2274Lys                      Met2255Lys               Missense
c.6827T>C   p.Val2276Ala                      Val2257Ala               Missense
c.6835T>A   p.Phe2279Ile                      Phe2260Ile               Missense
c.6836T>C   p.Phe2279Ser                      Phe2260Ser               Missense
c.6836T>G   p.Phe2279Cys                      Phe2260Cys               Missense
c.6839T>C   p.Leu2280Pro                      Leu2261Pro               Missense
c.683A>G    p.His228Arg                       His209Arg                Missense
c.6842T>C   p.Ile2281Thr                      Ile2262Thr               Missense
c.6850A>C   p.Ser2284Arg                      Ser2265Arg               Missense


                                           Page 49
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6857A>G   p.Asp2286Gly                      Asp2267Gly               Missense
c.6869G>T   p.Trp2290Leu                      Trp2271Leu               Missense
c.6904T>G   p.Phe2302Val                      Phe2283Val               Missense
c.6910G>A   p.Gln2304Arg                      Gln2285Arg               Missense
c.6911G>A   p.Gly2304Glu                      Gly2285Glu               Missense
c.6911G>T   p.Gly2304Val                      Gly2285Val               Missense
c.6915T>G   p.Asn2305Lys                      Asn2286Lys               Missense
c.6920A>C   p.Asp2307Ala                      Asp2288Ala               Missense
c.6929C>T   p.Thr2310Ile                      Thr2291Ile               Missense
c.6932C>A   p.Pro2311His                      Pro2292His               Missense
c.6940A>T   p.Asn2314Tyr                      Asn2295Tyr               Missense
c.6947T>C   p.Leu2316Pro                      Leu2297Pro               Missense
c.6955C>T   p.Pro2319Ser                      Pro2300Ser               Missense
c.6956C>G   p.Pro2319Arg                      Pro2300Arg               Missense
c.6956C>T   p.Pro2319Leu                      Pro2300Leu               Missense
c.6959T>C   p.Leu2320Ser                      Leu2301Ser               Missense
c.6967C>G   p.Arg2323Gly                      Arg2304Gly               Missense
c.6967C>T   p.Arg2323Cys                      Arg2304Cys               Missense
c.6968G>A   p.Arg2323His                      Arg2304His               Missense
c.6968G>T   p.Arg2323Leu                      Arg2304Leu               Missense
c.6970T>A   p.Tyr2324Asn                      Tyr2305Asn               Missense
c.6976C>G   p.Arg2326Gly                      Arg2307Gly               Missense
c.6977G>A   p.Arg2326Gln                      Arg2307Gln               Missense
c.6977G>C   p.Arg2326Pro                      Arg2307Pro               Missense
c.6977G>T   p.Arg2326Leu                      Arg2307Leu               Missense
c.6982C>G   p.His2328Asp                      His2309Asp               Missense
c.6986C>T   p.Pro2329Leu                      Pro2310Leu               Missense
c.6989A>C   p.Gln2330Pro                      Gln2311Pro               Missense
c.6994T>C   p.Trp2332Arg                      Trp2313Arg               Missense
c.6994T>G   p.Trp2332Gly                      Trp2313Gly               Missense
c.6995G>C   p.Trp2332Ser                      Trp2313Ser               Missense
c.7006A>T   p.Ile2336Phe                      Ile2317Phe               Missense


                                           Page 50
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.7015A>T   p.Arg2339Trp                      Arg2320Trp               Missense
c.7016G>C   p.Arg2339Thr                      Arg2320Thr               Missense
c.7016G>T   p.Arg2339Met                      Arg2320Met               Missense
c.7021G>A   p.Glu2341Lys                      Glu2322Lys               Missense
c.7028T>C   p.Leu2343Pro                      Leu2324Pro               Missense
c.7030G>A   p.Gly2344Ser                      Gly2325Ser               Missense
c.7030G>C   p.Gly2344Arg                      Gly2325Arg               Missense
c.7030G>T   p.Gly2344Cys                      Gly2325Cys               Missense
c.7031G>A   p.Gly2344Asp                      Gly2325Asp               Missense
c.7031G>C   p.Gly2344Ala                      Gly2325Ala               Missense
c.7033T>C   p.Cys2345Arg                      Cys2326Arg               Missense
c.7034G>A   p.Cys2345Tyr                      Cys2326Tyr               Missense
c.7034G>C   p.Cys2345Ser                      Cys2326Ser               Missense
c.7035C>G   p.Cys2345Trp                      Cys2326Trp               Missense
c.70T>G     p.Tyr24Asp                        Tyr5Asp                  Missense
c.71A>G     p.Tyr24Cys                        Tyr5Cys                  Missense
c.728C>G    p.Ser243Cys                       Ser224Cys                Missense
c.755C>A    p.Thr252Lys                       Thr233Lys                Missense
c.755C>T    p.Thr252Ile                       Thr233Ile                Missense
c.757G>T    p.Val253Phe                       Val234Phe                Missense
c.758T>C    p.Val253Ala                       Val234Ala                Missense
c.758T>G    p.Val253Gly                       Val234Gly                Missense
c.760A>G    p.Asn254Asp                       Asn235Asp                Missense
c.760A>T    p.Asn254Tyr                       Asn235Tyr                Missense
c.761A>C    p.Asn254Thr                       Asn235Thr                Missense
c.761A>G    p.Asn254Ser                       Asn235Ser                Missense
c.761A>T    p.Asn254Ile                       Asn235Ile                Missense
c.763G>A    p.Gly255Ser                       Gly236Ser                Missense
c.763G>T    p.Gly255Cys                       Gly236Cys                Missense
c.764G>C    p.Gly255Ala                       Gly236Ala                Missense
c.764G>T    p.Gly255Val                       Gly236Val                Missense
c.766T>A    p.Tyr256Asn                       Tyr237Asn                Missense


                                           Page 51
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.775A>T   p.Arg259Trp                      Arg240Trp                Missense
c.776G>C   p.Arg259Thr                      Arg240Thr                Missense
c.777G>T   p.Arg259Ser                      Arg240Ser                Missense
c.779C>G   p.Ser260Cys                      Ser241Cys                Missense
c.77T>C    p.Leu26Pro                       Leu7Pro                  Missense
c.77T>G    p.Leu26Arg                       Leu7Arg                  Missense
c.782T>C   p.Leu261Pro                      Leu242Pro                Missense
c.785C>T   p.Pro262Leu                      Pro243Leu                Missense
c.787G>A   p.Gly263Ser                      Gly244Ser                Missense
c.787G>C   p.Gly263Arg                      Gly244Arg                Missense
c.788G>A   p.Gly263Asp                      Gly244Asp                Missense
c.791T>C   p.Leu264Pro                      Leu245Pro                Missense
c.797G>A   p.Gly266Glu                      Gly247Glu                Missense
c.800G>A   p.Cys267Tyr                      Cys248Tyr                Missense
c.822G>C   p.Trp274Cys                      Trp255Cys                Missense
c.822G>T   p.Trp274Cys                      Trp255Cys                Missense
c.824A>G   p.His275Arg                      His256Arg                Missense
c.824A>T   p.His275Leu                      His256Leu                Missense
c.826G>A   p.Val276Met                      Val257Met                Missense
c.829A>G   p.Ile277Val                      Ile258Val                Missense
c.832G>A   p.Gly278Arg                      Gly259Arg                Missense
c.836T>A   p.Met279Lys                      Met260Lys                Missense
c.838G>C   p.Gly280Arg                      Gly261Arg                Missense
c.839G>A   p.Gly280Asp                      Gly261Asp                Missense
c.841A>C   p.Thr281Pro                      Thr262Pro                Missense
c.842C>A   p.Thr281Asn                      Thr262Asn                Missense
c.842C>T   p.Thr281Ile                      Thr262Ile                Missense
c.850G>A   p.Glu284Lys                      Glu265Lys                Missense
c.854T>C   p.Val285Ala                      Val266Ala                Missense
c.854T>G   p.Val285Gly                      Val266Gly                Missense
c.857A>C   p.His286Pro                      His267Pro                Missense
c.857A>G   p.His286Arg                      His267Arg                Missense


                                         Page 52
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.86T>G    p.Val29Gly                       Val10Gly                 Missense
c.871G>A   p.Glu291Lys                      Glu272Lys                Missense
c.872A>G   p.Glu291Gly                      Glu272Gly                Missense
c.878A>T   p.His293Leu                      His274Leu                Missense
c.881C>T   p.Thr294Ile                      Thr275Ile                Missense
c.883T>A   p.Phe295Ile                      Phe276Ile                Missense
c.883T>C   p.Phe295Leu                      Phe276Leu                Missense
c.886C>T   p.Leu296Phe                      Leu277Phe                Missense
c.889G>A   p.Val297Met                      Val278Met                Missense
c.88G>A    p.Glu30Lys                       Glu11Lys                 Missense
c.890T>C   p.Val297Ala                      Val278Ala                Missense
c.890T>G   p.Val297Gly                      Val278Gly                Missense
c.896A>T   p.Asn299Ile                      Asn280Ile                Missense
c.898C>G   p.His300Asp                      His281Asp                Missense
c.899A>C   p.His300Pro                      His281Pro                Missense
c.899A>T   p.His300Leu                      His281Leu                Missense
c.89A>T    p.Glu30Val                       Glu11Val                 Missense
c.901C>A   p.Arg301Ser                      Arg282Ser                Missense
c.901C>T   p.Arg301Cys                      Arg282Cys                Missense
c.902G>A   p.Arg301His                      Arg282His                Missense
c.902G>C   p.Arg301Pro                      Arg282Pro                Missense
c.902G>T   p.Arg301Leu                      Arg282Leu                Missense
c.907G>C   p.Ala303Pro                      Ala284Pro                Missense
c.908C>A   p.Ala303Glu                      Ala284Glu                Missense
c.914T>C   p.Leu305Ser                      Leu286Ser                Missense
c.920T>G   p.Ile307Ser                      Ile288Ser                Missense
c.923C>T   p.Ser308Leu                      Ser289Leu                Missense
c.935T>C   p.Phe312Ser                      Phe293Ser                Missense
c.938T>G   p.Leu313Arg                      Leu294Arg                Missense
c.940A>G   p.Thr314Ala                      Thr295Ala                Missense
c.941C>A   p.Thr314Asn                      Thr295Asn                Missense
c.941C>T   p.Thr314Ile                      Thr295Ile                Missense


                                         Page 53
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.944C>T    p.Ala315Val                      Ala296Val                Missense
c.953T>C    p.Leu318Pro                      Leu299Pro                Missense
c.967G>A    p.Gly323Arg                      Gly304Arg                Missense
c.968G>A    p.Gly323Glu                      Gly304Glu                Missense
c.971A>C    p.Gln324Pro                      Gln305Pro                Missense
c.977T>C    p.Leu326Pro                      Leu307Pro                Missense
c.979C>G    p.Leu327Val                      Leu308Val                Missense
c.97T>G     p.Trp33Gly                       Trp14Gly                 Missense
c.980T>C    p.Leu327Pro                      Leu308Pro                Missense
c.980T>G    p.Leu327Arg                      Leu308Arg                Missense
c.984T>G    p.Phe328Leu                      Phe309Leu                Missense
c.985T>A    p.Cys329Ser                      Cys310Ser                Missense
c.986G>A    p.Cys329Tyr                      Cys310Tyr                Missense
c.986G>C    p.Cys329Ser                      Cys310Ser                Missense
c.986G>T    p.Cys329Phe                      Cys310Phe                Missense
c.989A>G    p.His330Arg                      His311Arg                Missense
c.992T>C    p.Ile331Thr                      Ile312Thr                Missense
c.1003C>T   p.Gln335*                        Gln316*                  Nonsense
c.1026T>A   p.Tyr342*                        Tyr323*                  Nonsense
c.1030A>T   p.Lys344*                        Lys325*                  Nonsense
c.1063C>T   p.Arg355*                        Arg336*                  Nonsense
c.1175C>A   p.Ser392*                        Ser373*                  Nonsense
c.1175C>G   p.Ser392*                        Ser373*                  Nonsense
c.1202G>A   p.Trp401*                        Trp382*                  Nonsense
c.1203G>A   p.Trp401*                        Trp382*                  Nonsense
c.1235G>A   p.Trp412*                        Trp393*                  Nonsense
c.1236G>A   p.Trp412*                        Trp393*                  Nonsense
c.1285C>T   p.Gln429*                        Gln410*                  Nonsense
c.1336C>T   p.Arg446*                        Arg427*                  Nonsense
c.1357G>T   p.Glu453*                        Glu434*                  Nonsense
c.1394C>G   p.Ser465*                        Ser446*                  Nonsense
c.1419T>G   p.Try473*                        Try454*                  Nonsense


                                          Page 54
                        1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1485C>G   p.Tyr495*                      Tyr476*                  Nonsense
c.1520C>G   p.Ser507*                      Ser488*                  Nonsense
c.1529T>A   p.Leu510*                      Leu491*                  Nonsense
c.1595G>A   p.Trp532*                      Trp513*                  Nonsense
c.1628C>G   p.Ser543*                      Ser524*                  Nonsense
c.1653T>G   p.Tyr551*                      Tyr532*                  Nonsense
c.1656C>A   p.Tyr552*                      Tyr533*                  Nonsense
c.1675G>T   p.Glu559*                      Glu540*                  Nonsense
c.1726G>T   p.Glu576*                      Glu557*                  Nonsense
c.1738C>T   p.Gln580*                      Gln561*                  Nonsense
c.1760C>A   p.Ser587*                      Ser568*                  Nonsense
c.1798G>T   p.Glu600*                      Glu581*                  Nonsense
c.1804C>T   p.Arg602*                      Arg583*                  Nonsense
c.1811G>A   p.Trp604*                      Trp585*                  Nonsense
c.1815C>A   p.Tyr605*                      Tyr586*                  Nonsense
c.1815C>G   p.Tyr605*                      Tyr586*                  Nonsense
c.1831C>T   p.Gln611*                      Gln592*                  Nonsense
c.185C>G    p.Ser62*                       Ser43*                   Nonsense
c.1861C>T   p.Gln621*                      Gln602*                  Nonsense
c.1917T>A   p.Tyr639*                      Tyr620*                  Nonsense
c.1933C>T   p.Gln645*                      Gln626*                  Nonsense
c.195C>A    p.Tyr65*                       Tyr46*                   Nonsense
c.1965C>G   p.Tyr655*                      Tyr636*                  Nonsense
c.199A>T    p.Lys67*                       Lys48*                   Nonsense
c.2020G>T   p.Gly674*                      Gly655*                  Nonsense
c.2032A>T   p.Lys678*                      Lys659*                  Nonsense
c.2078C>G   p.Ser693*                      Ser674*                  Nonsense
c.2099C>A   p.Ser700*                      Ser681*                  Nonsense
c.2120G>A   p.Trp707*                      Trp688*                  Nonsense
c.2121G>A   p.Trp707*                      Trp688*                  Nonsense
c.2214C>G   p.Tyr738*                      Tyr719*                  Nonsense
c.2215G>T   p.Glu739*                      Glu720*                  Nonsense


                                        Page 55
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.2244C>A   p.Tyr748*                       Tyr729*                  Nonsense
c.2246T>A   p.Leu749*                       Leu730*                  Nonsense
c.2314C>T   p.Gln772*                       Gln753*                  Nonsense
c.2320C>T   p.Gln774*                       Gln755*                  Nonsense
c.2372G>A   p.Trp791*                       Trp772*                  Nonsense
c.2373G>A   p.Trp791*                       Trp772*                  Nonsense
c.2440C>T   p.Arg814*                       Arg795*                  Nonsense
c.2443C>T   p.Gln815*                       Gln796*                  Nonsense
c.2482C>T   p.Gln828*                       Gln809*                  Nonsense
c.2485G>T   p.Glu829*                       Glu810*                  Nonsense
c.2496T>G   p.Tyr832*                       Tyr813*                  Nonsense
c.2615C>G   p.Ser872*                       Ser853*                  Nonsense
c.261G>A    p.Trp87*                        Trp68*                   Nonsense
c.2633T>G   p.Leu878*                       Leu859*                  Nonsense
c.2638G>T   p.Glu880*                       Glu861*                  Nonsense
c.2702C>A   p.Ser901*                       Ser882*                  Nonsense
c.2702C>G   p.Ser901*                       Ser882*                  Nonsense
c.2770G>T   p.Gly924*                       Gly905*                  Nonsense
c.2893A>T   p.Lys965*                       Lys946*                  Nonsense
c.2912T>G   p.Leu971*                       Leu952*                  Nonsense
c.2933C>A   p.Ser978*                       Ser959*                  Nonsense
c.2936G>A   p.Trp979*                       Trp960*                  Nonsense
c.2937G>A   p.Trp979*                       Trp960*                  Nonsense
c.2954C>A   p.Ser985*                       Ser966*                  Nonsense
c.2977A>T   p.Lys993*                       Lys974*                  Nonsense
c.300T>G    p.Tyr100*                       Tyr81*                   Nonsense
c.3031A>T   p.Lys1011*                      Lys992*                  Nonsense
c.3050T>A   p.Leu1017*                      Leu998*                  Nonsense
c.3113C>G   p.Ser1038*                      Ser1019*                 Nonsense
c.3143G>A   p.Trp1048*                      Trp1029*                 Nonsense
c.3144G>A   p.Trp1048*                      Trp1029*                 Nonsense
c.3175A>T   p.Lys1059*                      Lys1040*                 Nonsense


                                         Page 56
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.3251C>G   p.Ser1084*                      Ser1065*                 Nonsense
c.3289C>T   p.Gln1097*                      Gln1078*                 Nonsense
c.3292C>T   p.Gln1098*                      Gln1079*                 Nonsense
c.3298A>T   p.Lys1100*                      Lys1081*                 Nonsense
c.3301G>T   p.Glu1101*                      Glu1082*                 Nonsense
c.3325C>T   p.Gln1109*                      Gln1090*                 Nonsense
c.3371C>A   p.Ser1124*                      Ser1105*                 Nonsense
c.3381G>A   p.Trp1127*                      Trp1108*                 Nonsense
c.3421C>T   p.Gln1141*                      Gln1122*                 Nonsense
c.3478C>T   p.Gln1160*                      Gln1141*                 Nonsense
c.3493G>T   p.Glu1165*                      Glu1146*                 Nonsense
c.3496A>T   c.Lys1166*                      Lys1147*                 Nonsense
c.3607G>T   p.Glu1203*                      Glu1184*                 Nonsense
c.3631A>T   p.Lys1211*                      Lys1192*                 Nonsense
c.3646G>T   p.Glu1216*                      Glu1197*                 Nonsense
c.3668T>A   p.Leu1223*                      Leu1204*                 Nonsense
c.36C>A     p.Cys12*                        Cys-8*                   Nonsense
c.3766G>T   p.Glu1256*                      Glu1237*                 Nonsense
c.3802C>T   p.Gln1268*                      Gln1249*                 Nonsense
c.3827C>G   p.Ser1276*                      Ser1257*                 Nonsense
c.3844A>T   p.Lys1282*                      Lys1263*                 Nonsense
c.3865A>T   p.Lys1289*                      Lys1270*                 Nonsense
c.3868A>T   p.Lys1290*                      Lys1271*                 Nonsense
c.3904C>T   p.Gln1302*                      Gln1283*                 Nonsense
c.3913C>T   p.Gln1305*                      Gln1286*                 Nonsense
c.3922G>T   p.Glu1308*                      Glu1289*                 Nonsense
c.3964C>T   p.Gln1322*                      Gln1303*                 Nonsense
c.3967C>T   p.Gln1323*                      Gln1304*                 Nonsense
c.3982C>T   p.Gln1328*                      Gln1309*                 Nonsense
c.4006C>T   p.Gln1336*                      Gln1317*                 Nonsense
c.4039G>T   p.Glu1347*                      Glu1328*                 Nonsense
c.4067C>A   p.Ser1356*                      Ser1337*                 Nonsense


                                         Page 57
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.406C>T    p.Gln136*                       Gln117*                  Nonsense
c.4072C>T   p.Gln1358*                      Gln1339*                 Nonsense
c.4076G>A   p.Trp1359*                      Trp1340*                 Nonsense
c.4077G>A   p.Trp1359*                      Trp1340*                 Nonsense
c.4156C>T   p.Gln1386*                      Gln1367*                 Nonsense
c.415C>T    p.Gln139*                       Gln120*                  Nonsense
c.4201C>T   p.Gln1401*                      Gln1382*                 Nonsense
c.421G>T    p.Glu141*                       Glu122*                  Nonsense
c.4241C>A   p.Ser1414*                      Ser1395*                 Nonsense
c.4345G>T   p.Glu1449*                      Glu1430*                 Nonsense
c.4361T>A   p.Leu1454*                      Leu1435*                 Nonsense
c.436A>T    p.Lys146*                       Lys127*                  Nonsense
c.43C>T     p.Arg15*                        Arg-5*                   Nonsense
c.4408G>T   p.Glu1470*                      Glu1451*                 Nonsense
c.4423C>T   p.Gln1475*                      Gln1456*                 Nonsense
c.4473C>A   p.Tyr1491*                      Tyr1472*                 Nonsense
c.4473C>G   p.Tyr1491*                      Tyr1472*                 Nonsense
c.4474A>T   p.Lys1492*                      Lys1473*                 Nonsense
c.4483G>T   p.Glu1495*                      Glu1476*                 Nonsense
c.4534G>T   p.Glu1512*                      Glu1493*                 Nonsense
c.4561C>T   p.Gln1521*                      Gln1502*                 Nonsense
c.4564A>T   p.Lys1522*                      Lys1503*                 Nonsense
c.4662G>A   p.Trp1554*                      Trp1535*                 Nonsense
c.471G>A    p.Trp157*                       Trp138*                  Nonsense
c.472C>T    p.Gln158*                       Gln139*                  Nonsense
c.4757G>A   p.Trp1586*                      Trp1567*                 Nonsense
c.4758G>A   p.Trp1586*                      Trp1567*                 Nonsense
c.4770T>A   p.Tyr1590*                      Tyr1571*                 Nonsense
c.4789G>T   p.Glu1597*                      Glu1578*                 Nonsense
c.4796G>A   p.Trp1599*                      Trp1580*                 Nonsense
c.4797G>A   p.Trp1599*                      Trp1580*                 Nonsense
c.4798A>T   p.Lys1600*                      Lys1581*                 Nonsense


                                         Page 58
                           1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.4814C>A   p.Ser1605*                        Ser1586*                 Nonsense
c.4840A>T   p.Lys1614*                        Lys1595*                 Nonsense
c.4900G>T   p.Glu1634*                        Glu1615*                 Nonsense
c.4906C>T   p.Gln1636*                        Gln1617*                 Nonsense
c.4918G>T   p.Glu1640*                        Glu1621*                 Nonsense
c.4934G>A   p.Trp1645*                        Trp1626*                 Nonsense
c.4935G>A   p.Trp1645*                        Trp1626*                 Nonsense
c.4942C>T   p.Gln1648*                        Gln1629*                 Nonsense
c.4987A>T   p.Lys1663*                        Lys1644*                 Nonsense
c.5122C>T   p.Arg1708Cys                      Arg1689Cys               Missense
c.5123G>A   p.Arg1708His                      Arg1689His               Missense
c.5123G>T   p.Arg1708Leu                      Arg1689Leu               Missense
c.5143C>T   p.Arg1715*                        Arg1696*                 Nonsense
c.516C>A    p.Cys172*                         Cys153*                  Nonsense
c.5177G>A   p.Trp1726*                        Trp1707*                 Nonsense
c.5178G>A   p.Trp1726*                        Trp1707*                 Nonsense
c.5184T>A   p.Tyr1728*                        Tyr1709*                 Nonsense
c.5217C>T   p.=                               Gln1720*                 Nonsense
c.5251A>T   p.Lys1751*                        Lys1732*                 Nonsense
c.525C>A    p.Tyr175*                         Tyr156*                  Nonsense
c.5301C>A   p.Tyr1767*                        Tyr1748*                 Nonsense
c.5301C>G   p.Tyr1767*                        Tyr1748*                 Nonsense
c.5317G>T   p.Glu1773*                        Glu1754*                 Nonsense
c.5343T>A   p.Tyr1781*                        Tyr1762*                 Nonsense
c.5389C>T   p.Gln1797*                        Gln1778*                 Nonsense
c.5406T>G   p.Tyr1802*                        Tyr1783*                 Nonsense
c.5415T>A   p.Tyr1805*                        Tyr1786*                 Nonsense
c.5433T>A   p.Tyr1811*                        Tyr1792*                 Nonsense
c.5434G>T   p.Glu1812*                        Glu1793*                 Nonsense
c.5443C>T   p.Gln1815*                        Gln1796*                 Nonsense
c.5452G>T   p.Gly1818*                        Gly1799*                 Nonsense
c.5507G>A   p.Trp1836*                        Trp1817*                 Nonsense


                                           Page 59
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5508G>A   p.Trp1836*                      Trp1817*                 Nonsense
c.5515C>T   p.Gln1839*                      Gln1820*                 Nonsense
c.5536A>T   p.Lys1846*                      Lys1827*                 Nonsense
c.5553C>A   p.Cys1851*                      Cys1832*                 Nonsense
c.5561G>A   p.Trp1854*                      Trp1835*                 Nonsense
c.5568T>G   p.Tyr1856*                      Tyr1837*                 Nonsense
c.560T>A    p.Leu187*                       Leu168*                  Nonsense
c.5662A>T   p.Arg1888*                      Arg1869*                 Nonsense
c.5665C>T   p.Gln1889*                      Gln1870*                 Nonsense
c.5677C>T   p.Gln1893*                      Gln1874*                 Nonsense
c.5743G>T   p.Glu1915*                      Glu1896*                 Nonsense
c.5766C>A   p.Cys1922*                      Cys1903*                 Nonsense
c.5805T>A   p.Tyr1935*                      Tyr1916*                 Nonsense
c.5869C>T   p.Gln1957*                      Gln1938*                 Nonsense
c.5878C>T   p.Arg1960*                      Arg1941*                 Nonsense
c.5882G>A   p.Trp1961*                      Trp1942*                 Nonsense
c.5953C>T   p.Arg1985*                      Arg1966*                 Nonsense
c.595A>T    p.Arg199*                       Arg180*                  Nonsense
c.5985C>A   p.Tyr1995*                      Tyr1976*                 Nonsense
c.6016G>T   p.Glu2006*                      Glu1987*                 Nonsense
c.6120T>A   p.Cys2040*                      Cys2021*                 Nonsense
c.6133G>T   p.Gly2045*                      Gly2026*                 Nonsense
c.6163C>T   p.Gln2055*                      Gln2036*                 Nonsense
c.6194G>A   p.Trp2065*                      Trp2046*                 Nonsense
c.6226G>T   p.Gly2076*                      Gly2057*                 Nonsense
c.6230C>G   p.Ser2077*                      Ser2058*                 Nonsense
c.6242G>A   p.Trp2081*                      Trp2062*                 Nonsense
c.6250A>T   p.Lys2084*                      Lys2065*                 Nonsense
c.6253G>T   p.Glu2085*                      Glu2066*                 Nonsense
c.625C>T    p.Gln209*                       Gln190*                  Nonsense
c.6266G>A   p.Trp2089*                      Trp2070*                 Nonsense
c.6310A>T   p.Lys2104*                      Lys2085*                 Nonsense


                                         Page 60
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6316C>T   p.Gln2106*                      Gln2087*                 Nonsense
c.6385A>T   p.Lys2129*                      Lys2110*                 Nonsense
c.6393G>A   p.Trp2131*                      Trp2112*                 Nonsense
c.6394C>T   p.Gln2132*                      Gln2113*                 Nonsense
c.6403C>T   p.Arg2135*                      Arg2116*                 Nonsense
c.6418G>T   p.Gly2140*                      Gly2121*                 Nonsense
c.6425T>A   p.Leu2142*                      Leu2123*                 Nonsense
c.6496C>T   p.Arg2166*                      Arg2147*                 Nonsense
c.6550G>T   p.Glu2184*                      Glu2165*                 Nonsense
c.6590T>A   p.Leu2197*                      Leu2178*                 Nonsense
c.6665G>A   p.Trp2222*                      Trp2203*                 Nonsense
c.6666G>A   p.Trp2222*                      Trp2203*                 Nonsense
c.6674C>G   p.Ser2225*                      Ser2206*                 Nonsense
c.6682C>T   p.Arg2228*                      Arg2209*                 Nonsense
c.6694C>T   p.Gln2232*                      Gln2213*                 Nonsense
c.6713G>A   p.Trp2238*                      Trp2219*                 Nonsense
c.6721C>T   p.Gln2241*                      Gln2222*                 Nonsense
c.6736A>T   p.Lys2246*                      Lys2227*                 Nonsense
c.6739G>T   p.Glu2247*                      Glu2228*                 Nonsense
c.6743G>A   p.Trp2248*                      Trp2229*                 Nonsense
c.6748C>T   p.Gln2250*                      Gln2231*                 Nonsense
c.6760C>T   p.Gln2254*                      Gln2235*                 Nonsense
c.680G>A    p.Trp227*                       Trp208*                  Nonsense
c.6825T>A   p.Tyr2275*                      Tyr2256*                 Nonsense
c.6865C>T   p.Gln2289*                      Gln2270*                 Nonsense
c.686C>G    p.Ser229*                       Ser210*                  Nonsense
c.6870G>A   p.Trp2290*                      Trp2271*                 Nonsense
c.6907C>T   p.Gln2303*                      Gln2284*                 Nonsense
c.6976C>T   p.Arg2326*                      Arg2307*                 Nonsense
c.6995G>A   p.Trp2332*                      Trp2313*                 Nonsense
c.6996G>A   p.Trp2332*                      Trp2313*                 Nonsense
c.7003C>T   p.Gln2335*                      Gln2316*                 Nonsense


                                         Page 61
                                                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.7021G>T                     p.Glu2341*                              Glu2322*                    Nonsense
c.7035C>A                     p.Cys2345*                              Cys2326*                    Nonsense
c.709C>T                      p.Gln237*                               Gln218*                     Nonsense
c.741G>A                      p.Trp247*                               Trp228*                     Nonsense
c.75C>G                       p.Tyr25*                                Tyr6*                       Nonsense
c.796G>T                      p.Gly266*                               Gly247*                     Nonsense
c.821G>A                      p.Trp274*                               Trp255*                     Nonsense
c.822G>A                      p.Trp274*                               Trp255*                     Nonsense
c.850G>T                      p.Glu284*                               Glu265*                     Nonsense
c.871G>T                      p.Glu291*                               Glu272*                     Nonsense
c.904C>T                      p.Gln302*                               Gln283*                     Nonsense
c.98G>A                       p.Trp33*                                Trp14*                      Nonsense
c.-112G>A                     p.Trp-38*                                                           Promoter
c.-126C>T                     p.=                                                                 Promoter
c.-25A>G                      p.=                                                                 Promoter
c.-219C>T                                                                                         Promoter
c.-257T>G                                                                                         Promoter
c.1072_1083del                p.Asn358_Glu361del                      Asn339_Glu342del            Small structural change (in-frame, <50 bp)
c.1230_1232del                p.Glu410del                             Glu391del                   Small structural change (in-frame, <50 bp)
c.1392_1418del                p.Glu464_Tyr473delinsAsp                Glu445_Tyr454delinsAsp      Small structural change (in-frame, <50 bp)
c.1464_1465insCCAGAC          p.Ala488_Ser489insProAsp                Ala469_Ser470insProAsp      Small structural change (in-frame, <50 bp)
c.1473_1474insCCAGAC          p.Pro491_Tyr492insProAsp                Pro472_Tyr473insProAsp      Small structural change (in-frame, <50 bp)
c.1503_1504insATCATCGAT       p.Asp501_Val502delinsIleIleAsp          Asp482_Val483delinsIleIleAs Small structural change (in-frame, <50 bp)
                                                                      p
c.1564_1565delinsTA           p.Ile522Tyr                             Ile503Tyr                   Small structural change (in-frame, <50 bp)
c.1606_1609delinsCATGATGCTT   p.Val536_Tyr2351delinsHisAspAla         Val517_Tyr2332delinsHisAsp Small structural change (in-frame, <50 bp)
                                                                      Ala
c.1625_1645del                p.Lys542_Leu548del                      Lys523_Leu529del            Small structural change (in-frame, <50 bp)
c.1832_1834del                p.Gln611del                             Gln592del                   Small structural change (in-frame, <50 bp)
c.1894_1896dup                p.Ile632dup                             Ile613dup                   Small structural change (in-frame, <50 bp)
c.2014_2016del                p.Phe672del                             Phe653del                   Small structural change (in-frame, <50 bp)
c.2015_2017del                p.Phe672del                             Phe653del                   Small structural change (in-frame, <50 bp)


                                                                   Page 62
                                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.202_207del                      p.Thr68_Leu69del                         Thr49_Leu50del               Small structural change (in-frame, <50 bp)
c.2035_2040del                    p.His679_Lys680del                       His660_Lys661del             Small structural change (in-frame, <50 bp)
c.2077_2078delinsCT               p.Ser693Leu                              Ser674Leu                    Small structural change (in-frame, <50 bp)
c.250_255del                      p.Arg84_Pro85del                         Arg65_Pro66del               Small structural change (in-frame, <50 bp)
c.255_257del                      p.Pro86del                               Pro67del                     Small structural change (in-frame, <50 bp)
c.288_293del                      p.Ala97_Glu98del                         Ala78_Glu79del               Small structural change (in-frame, <50 bp)
c.4231_4311del                    p.Lys1411_Ala1437del                     Lys1392_Ala1418del           Small structural change (in-frame, <50 bp)
c.435_436insTTT                   p.Asp145_Lys146insPhe                    Asp126_Lys127insPhe          Small structural change (in-frame, <50 bp)
c.440_448dup                      p.Val147_Pro149dup                       Val128_Pro130dup             Small structural change (in-frame, <50 bp)
c.5144_5146del                    p.Arg1715del                             Arg1696del                   Small structural change (in-frame, <50 bp)
c.5293_5295del                    p.Pro1765del                             Pro1746del                   Small structural change (in-frame, <50 bp)
c.5370_5372del                    p.Ile1790del                             Ile1771del                   Small structural change (in-frame, <50 bp)
c.5473_5478del                    p.Phe1825_Val1826del                     Phe1806_Val1807del           Small structural change (in-frame, <50 bp)
c.557_559del                      p.Asp186_Leu187delinsVal                 Asp167_Leu168delinsVal       Small structural change (in-frame, <50 bp)
c.5641_5642delinsGA               p.Thr1881Glu                             Thr1862Glu                   Small structural change (in-frame, <50 bp)
c.569_570delinsTT                 p.Gly190Val                              Gly171Val                    Small structural change (in-frame, <50 bp)
c.5723delinsTCATCAAAGTACTTCAAAA   p.Trp1908delinsSerSerLysTyrPheLysLys     Trp1889delinsSerSerLysTyrP   Small structural change (in-frame, <50 bp)
A                                                                          heLysLys
c.5861_5866del                    p.Ala1954_Gln1955del                     Ala1935_Gln1936del           Small structural change (in-frame, <50 bp)
c.589_591del                      p.Val197del                              Val178del                    Small structural change (in-frame, <50 bp)
c.5965_5967del                    p.Glu1989del                             Glu1970del                   Small structural change (in-frame, <50 bp)
c.6021_6041del                    p.Met2007_Gly2013del                     Met1988_Gly1994del           Small structural change (in-frame, <50 bp)
c.6298_6300del                    p.Ile2100del                             Ile2081del                   Small structural change (in-frame, <50 bp)
c.6320_6322del                    p.Gly2107del                             Gly2088del                   Small structural change (in-frame, <50 bp)
c.6517_6519dup                    p.Thr2173dup                             Thr2154dup                   Small structural change (in-frame, <50 bp)
c.6658_6660del                    p.Ala2220del                             Ala2201del                   Small structural change (in-frame, <50 bp)
c.6669_6671del                    p.Pro2224del                             Pro2205del                   Small structural change (in-frame, <50 bp)
c.668_670del                      p.Glu223del                              Glu204del                    Small structural change (in-frame, <50 bp)
c.678_680del                      p.Ser226_Trp227delinsArg                 Ser207_Trp208delinsArg       Small structural change (in-frame, <50 bp)
c.6780_6788del                    p.Gly2261_Thr2263del                     Gly2242_Thr2244del           Small structural change (in-frame, <50 bp)
c.6786_6787insCAA                 p.Val2262_Thr2263insGln                  Val2243_Thr2244insGln        Small structural change (in-frame, <50 bp)
c.6894_6895insAAC                 p.Lys2298_Val2299insAsn                  Lys2279_Val2280insAsn        Small structural change (in-frame, <50 bp)


                                                                         Page 63
                                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6969_6977del   p.Tyr2324_Arg2326del                 Tyr2305_Arg2307del       Small structural change (in-frame, <50 bp)
c.958_960del     p.Met320del                          Met301del                Small structural change (in-frame, <50 bp)
c.1009+1G>A                                                                    Splice site change
c.1009+3A>C                                                                    Splice site change
c.1010-2A>C                                                                    Splice site change
c.1271+1G>A                                                                    Splice site change
c.143+1567A>G                                                                  Splice site change
c.143+1G>A                                                                     Splice site change
c.143+2T>C                                                                     Splice site change
c.144-11T>G                                                                    Splice site change
c.144-1G>A                                                                     Splice site change
c.144-1G>T                                                                     Splice site change
c.144-26A>G                                                                    Splice site change
c.144-2A>G                                                                     Splice site change
c.144-2A>T                                                                     Splice site change
c.1443+18T>G                                                                   Splice site change
c.1443+1G>A                                                                    Splice site change
c.1443+1G>C                                                                    Splice site change
c.1443+1G>T                                                                    Splice site change
c.1443+2T>C                                                                    Splice site change
c.1443+5G>C                                                                    Splice site change
c.144-3C>G                                                                     Splice site change
c.144-3C>T                                                                     Splice site change
c.1444-15C>A                                                                   Splice site change
c.1444-2A>G                                                                    Splice site change
c.1444-3C>G                                                                    Splice site change
c.1444-5T>C                                                                    Splice site change
c.144-5C>G                                                                     Splice site change
c.1537+1G>C                                                                    Splice site change
c.1538-18G>A                                                                   Splice site change
c.1538-1G>T                                                                    Splice site change
c.1752+5G>A                                                                    Splice site change


                                                   Page 64
                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.1752+5G>C                                                      Splice site change
c.1752+5G>T                                                      Splice site change
c.1753-1G>A                                                      Splice site change
c.1903+1_1903+2del                                               Splice site change
c.1903+1G>A                                                      Splice site change
c.1903+2T>G                                                      Splice site change
c.1903+3delG                                                     Splice site change
c.1903+5G>A                                                      Splice site change
c.1903+5G>T                                                      Splice site change
c.1904-1G>A                                                      Splice site change
c.1904-2A>G                                                      Splice site change
c.1904-37G>A                                                     Splice site change
c.2113+1G>A                                                      Splice site change
c.2113+2T>C                                                      Splice site change
c.2114-1G>A                                                      Splice site change
c.2114-2A>G                                                      Splice site change
c.265+1G>A                                                       Splice site change
c.265+1G>T                                                       Splice site change
c.265+333C>T                                                     Splice site change
c.265+3A>G                                                       Splice site change
c.266-1G>A                                                       Splice site change
c.388+5G>A                                                       Splice site change
c.388+5G>C                                                       Splice site change
c.388+5G>T                                                       Splice site change
c.389-16T>G                                                      Splice site change
c.389-2A>T                                                       Splice site change
c.5219+1G>A                                                      Splice site change
c.5219+2T>C                                                      Splice site change
c.5219+2T>G                                                      Splice site change
c.5219+3A>C                                                      Splice site change
c.5219+3A>G                                                      Splice site change
c.5220-1G>A                                                      Splice site change


                                     Page 65
                            1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.5220-2A>G                                                             Splice site change
c.5220-2A>T                                                             Splice site change
c.5373+13C>T                                                            Splice site change
c.5373+1G>A                                                             Splice site change
c.5373+1G>C                                                             Splice site change
c.5373+1G>T                                                             Splice site change
c.5373+2T>G                                                             Splice site change
c.5373+6T>G                                                             Splice site change
c.5374-1G>A                                                             Splice site change
c.5374-1G>C                                                             Splice site change
c.5374-2A>T                                                             Splice site change
c.5586+2T>G                                                             Splice site change
c.5586+5G>A                                                             Splice site change
c.5587-1G>A                                                             Splice site change
c.5587-2A>G                                                             Splice site change
c.5587-2A>T                                                             Splice site change
c.5815+2T>C                                                             Splice site change
c.5816-13_5816-14delinsTA                                               Splice site change
c.5998+1G>A                                                             Splice site change
c.5999-1G>T                                                             Splice site change
c.5999-2_1del                                                           Splice site change
c.601+1632G>A                                                           Splice site change
c.601+3A>C                                                              Splice site change
c.601+5delG                                                             Splice site change
c.601+5G>A                                                              Splice site change
c.601+5G>T                                                              Splice site change
c.602-10T>G                                                             Splice site change
c.602-13_615del                                                         Splice site change
c.602-1G>A                                                              Splice site change
c.602-2A>G                                                              Splice site change
c.602-3C>A                                                              Splice site change
c.602-3C>G                                                              Splice site change


                                            Page 66
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.6115_6115+12del                                                    Splice site change
c.6115+1_6115+3del                                                   Splice site change
c.6115+1G>A                                                          Splice site change
c.6115+2T>C                                                          Splice site change
c.6115+3_6115+6delGAGT                                               Splice site change
c.6115+3G>T                                                          Splice site change
c.6115+4A>G                                                          Splice site change
c.6115+6T>A                                                          Splice site change
c.6115+9C>G                                                          Splice site change
c.6116-2A>G                                                          Splice site change
c.6116-3C>A                                                          Splice site change
c.6187+1G>T                                                          Splice site change
c.6188-1G>C                                                          Splice site change
c.6273+1G>T                                                          Splice site change
c.6429+1G>A                                                          Splice site change
c.6429+2delT                                                         Splice site change
c.6429+2T>A                                                          Splice site change
c.6429+5G>T                                                          Splice site change
c.6430-14A>G                                                         Splice site change
c.6430-21_6439del                                                    Splice site change
c.6430-2A>G                                                          Splice site change
c.6430-3C>G                                                          Splice site change
c.6574+1G>A                                                          Splice site change
c.6574+1G>T                                                          Splice site change
c.6574+3_6574+6del                                                   Splice site change
c.6574+3A>C                                                          Splice site change
c.6574+5G>C                                                          Splice site change
c.6575-1G>A                                                          Splice site change
c.6575-1G>T                                                          Splice site change
c.6575-2A>C                                                          Splice site change
c.665_670+5del                                                       Splice site change
c.670+1G>T                                                           Splice site change


                                         Page 67
                       1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.670+2T>G                                                         Splice site change
c.670+5G>A                                                         Splice site change
c.670+6T>C                                                         Splice site change
c.671-11T>C                                                        Splice site change
c.671-2A>G                                                         Splice site change
c.671-3C>G                                                         Splice site change
c.6723+1G>A                                                        Splice site change
c.6723+1G>C                                                        Splice site change
c.6723+1G>T                                                        Splice site change
c.6723+2T>G                                                        Splice site change
c.6724-1G>A                                                        Splice site change
c.6724-4T>A                                                        Splice site change
c.6900+1G>A                                                        Splice site change
c.6900+1G>C                                                        Splice site change
c.6900+4104A>T                                                     Splice site change
c.6901-2A>G                                                        Splice site change
c.787+143T>C                                                       Splice site change
c.787+1G>A                                                         Splice site change
c.787+2T>C                                                         Splice site change
c.787+3A>G                                                         Splice site change
c.787+5G>A                                                         Splice site change
c.787+5G>T                                                         Splice site change
c.787+6T>C                                                         Splice site change
c.788-14T>G                                                        Splice site change
c.788-1G>A                                                         Splice site change
c.788-1G>C                                                         Splice site change
c.788-1G>T                                                         Splice site change
c.788-8C>G                                                         Splice site change
c.1443G>A        p.=                      Leu462Leu                Synonymous
c.1551G>A        p.=                      Leu498Leu                Synonymous
c.1569G>T        p.=                      Leu504Leu                Synonymous
c.205C>T         p.=                      Leu50Leu                 Synonymous


                                       Page 68
                  1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


c.336C>T    p.=                      Ser93Ser                 Synonymous
c.5586G>A   p.=                      Leu1843Leu               Synonymous
c.5703C>A   p.=                      Ile1882Ile               Synonymous
c.6696A>G   p.=                      Gln2213Gln               Synonymous
c.669A>G    p.=                      Glu204Glu                Synonymous
c.786A>C    p.=                      Pro243Pro                Synonymous




                                  Page 69
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


                                                                          Severe     Moderate       Mild
Mechanism            Exon   Codon         Domain            Subtype      (<1 U/dL)   (1-5 U/dL)   (>5 U/dL)
Deletion               8     323            A1             Heavy chain      X
Duplication            8     340            a1             Heavy chain      X
Deletion               8     340            a1             Heavy chain
Deletion               8     341            a1             Heavy chain
Deletion               8     370            a1             Heavy chain      X
Duplication            8     378            A2             Heavy chain      X
Deletion               8     382            A2             Heavy chain      X
Deletion               8     388            A2             Heavy chain                   X
Insertion              8     399            A2             Heavy chain
Deletion               8     401            A2             Heavy chain      X
Duplication            8     403            A2             Heavy chain      X
Deletion               8     403            A2             Heavy chain      X
Deletion               9     413            A2             Heavy chain      X
Deletion               9     419            A2             Heavy chain      X
Deletion               9     423            A2             Heavy chain      X
Deletion               9     423            A2             Heavy chain                   X
Deletion               9     425            A2             Heavy chain      X
Insertion/deletion     9     425            A2             Heavy chain
Deletion               9     426            A2               poly A         X
Duplication            9     427            A2             Heavy chain      X
Deletion               9     428            A2             Heavy chain      X
Duplication            9     429            A2             Heavy chain      X
Deletion               9     451            A2             Heavy chain      X
Deletion               9     452            A2             Heavy chain      X
Deletion               9     453            A2             Heavy chain      X
Duplication            9     453            A2             Heavy chain
Deletion               9     461            A2             Heavy chain      X
Insertion              9     462            A2             Heavy chain
Duplication            9     463            A2             Heavy chain
Deletion              10     474            A2             Heavy chain      X


                                             Page 70
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             10   477             A2            Heavy chain   X
Deletion             10   481             A2            Heavy chain   X
Deletion             10   484             A2            Heavy chain   X
Deletion             10   489             A2            Heavy chain   X
Deletion             11   502             A2            Heavy chain   X
Deletion             11   508             A2            Heavy chain   X
Deletion             11   509             A2            Heavy chain
Duplication          11   514             A2            Heavy chain
Deletion             11   521             A2            Heavy chain   X
Deletion             11   525             A2            Heavy chain   X
Deletion             11   542             A2            Heavy chain   X
Deletion             11   542             A2            Heavy chain
Duplication           2   42              A1            Heavy chain   X
Deletion             11   564             A2            Heavy chain
Deletion             11   565             A2            Heavy chain
Deletion             12   576             A2            Heavy chain   X
Deletion             12   588             A2            Heavy chain   X
Deletion             12   589             A2            Heavy chain   X
Deletion             12   597             A2            Heavy chain
Deletion             12   602             A2            Heavy chain   X
Deletion             12   606             A2            Heavy chain
Deletion             13   620             A2            Heavy chain   X
Insertion/deletion   13   622             A2            Heavy chain   X
Deletion             13   623             A2            Heavy chain   X
Deletion             13   631             A2            Heavy chain   X
Deletion             13   631             A2            Heavy chain   X
Deletion              2   48              A1            Heavy chain   X
Deletion              2   48              A1            Heavy chain
Deletion             13   645             A2            Heavy chain   X
Deletion             13   647             A2            Heavy chain   X
Deletion             13   648             A2            Heavy chain   X
Deletion             13   651             A2            Heavy chain   X


                                          Page 71
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             13   650             A2            Heavy chain           X
Duplication           2   49              A1              poly A      X
Deletion             13   653             A2            Heavy chain   X
Insertion             2   50              A1            Heavy chain   X
Duplication          13   660             A2            Heavy chain   X
Deletion             13   662             A2            Heavy chain
Deletion              2   50              A1            Heavy chain   X
Deletion             13   668             A2            Heavy chain
Deletion              2   50              A1            Heavy chain   X   X
Duplication          13   669             A2            Heavy chain   X
Deletion             13   671             A2            Heavy chain   X
Deletion              2   51              A1            Heavy chain   X
Deletion             13   678             A2            Heavy chain   X
Deletion              2   51              A1            Heavy chain   X
Deletion             13   682             A2            Heavy chain   X
Duplication          14   688             A2            Heavy chain   X
Duplication          14   703             A2            Heavy chain   X
Insertion            14   708             A2            Heavy chain   X
Deletion             14   709             A2            Heavy chain   X   X
Deletion             14   710             A2            Heavy chain       X
Deletion             14   716             a2            Heavy chain
Insertion            14   716             a2            Heavy chain   X
Insertion/deletion   14   718             a2            Heavy chain   X
Deletion             14   720             a2            Heavy chain
Deletion             14   727             a2            Heavy chain   X
Deletion              2   56              A1            Heavy chain   X
Deletion             14   747             B                               X
Deletion             14   754             B                           X
Deletion              2   59              A1            Heavy chain   X
Deletion             14   766             B                           X
Deletion             14   768             B                           X
Deletion             14   768             B                           X


                                          Page 72
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             14   771             B                           X
Duplication          14   773             B                           X
Deletion             14   773             B                           X
Deletion             14   776             B
Deletion             14   782             B                           X
Deletion             14   784             B
Deletion             14   786             B                               X
Deletion             14   787             B                           X
Duplication          14   788             B                           X
Deletion             14   810             B                           X
Duplication          14   810             B                           X
Deletion             14   812             B                           X
Deletion             14   822             B
Deletion             14   824             B                           X
Deletion             14   826             B
Insertion            14   833             B                           X
Insertion/deletion   14   833             B                               X
Duplication          14   837             B
Deletion             14   846             B                           X
Duplication          14   866             B                           X
Duplication          14   847             B                           X
Insertion            14   849             B
Deletion             14   851             B                           X
Duplication          14   852             B                           X
Deletion             14   852             B                           X
Duplication          14   853             B                           X
Insertion/deletion   14   864             B                           X

Insertion/deletion   14   865             B                           X
Deletion             14   865             B                           X
Duplication          14   869             B                           X
Deletion              3   72              A1            Heavy chain   X


                                          Page 73
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Duplication          14    892            B
Duplication          14    894            B                           X
Insertion/deletion   14    903            B                               X
Deletion             14    904            B
Deletion             14    905            B
Duplication          14    908            B
Deletion             14    918            B
Deletion             14    925            B               poly A
Deletion             14    930            B                           X
Duplication          14    949            B                           X
Deletion             14    951            B                           X
Deletion             14    954            B                           X
Deletion             14    960            B                           X
Deletion             14    961            B                           X
Duplication          14    963            B                           X
Deletion             14    963            B                           X
Duplication          14    963            B                           X   X
Deletion             14    968            B                           X
Deletion             14    969            B                           X
Deletion             14    983            B                           X
Deletion             14    997            B                           X
Insertion             3    84             A1            Heavy chain       X
Deletion             14    999            B                           X
Deletion             14   1001            B                           X
Deletion             14   1001            B                           X
Deletion             14   1002            B
Deletion             14   1012            B                           X
Insertion            14   1032            B                           X
Deletion             14   1032            B                           X
Deletion             14   1049            B                           X
Insertion            14   1055            B                           X
Deletion             14   1056            B


                                          Page 74
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             14   1067            B
Duplication          14   1073            B                           X
Duplication          14   1084            B                           X
Deletion             14   1082            B                           X
Deletion             14   1082            B                           X
Duplication          14   1082            B                           X   X
Deletion             14   1082            B                           X
Duplication          14   1088            B                           X
Deletion             14   1096            B
Duplication          14   1099            B                           X
Duplication          14   1101            B                           X
Insertion/deletion   14   1105            B                           X
Duplication           3    96             A1            Heavy chain       X
Deletion             14   1111            B                           X
Deletion             14   1115            B                               X
Deletion             14   1118            B                           X
Deletion             14   1118            B                           X
Deletion             14   1120            B                           X
Duplication          14   1121            B                           X
Deletion             14   1125            B
Deletion              3    97             A1            Heavy chain   X
Insertion             3    98             A1            Heavy chain   X
Deletion             14   1145            B                           X
Duplication          14   1148            B                           X
Deletion             14   1151            B                           X
Deletion             14   1156            B                           X
Deletion             14   1158            B                           X
Deletion             14   1164            B                           X
Deletion              5    199            A1            Heavy chain
Duplication          14   1170            B               poly A      X
Deletion             14   1178            B
Deletion              3    102            A1            Heavy chain   X


                                          Page 75
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             14   1188            B                           X
Duplication          14   1189            B
Deletion             14   1188            B
Deletion             14   1190            B                               X
Duplication          14   1190            B                           X
Deletion             14   1193            B                           X
Deletion             14   1194            B                           X   X
Duplication          14   1194            B               poly A      X   X
Deletion              3    103            A1            Heavy chain   X
Insertion/deletion    3    103            A1            Heavy chain   X
Deletion             14   1199            B
Deletion             14   1212            B                           X
Deletion             14   1215            B
Deletion             14   1215            B                           X   X
Deletion             14   1216            B                               X
Deletion             14   1218            B                           X
Insertion/deletion   14   1226            B                           X
Deletion             14   1227            B                           X
Deletion             14   1233            B                           X
Deletion             14   1239            B                           X
Deletion              3    108            A1            Heavy chain   X
Deletion             14   1253            B                           X
Deletion             14   1258            B                           X
Deletion             14   1259            B                           X
Deletion             14   1260            B
Deletion             14   1265            B                           X
Deletion             14   1268            B                           X
Duplication          14   1272            B                           X
Duplication          14   1272            B               poly A      X       X
Deletion             14   1282            B                           X
Deletion             14   1284            B                           X
Deletion             14   1284            B


                                          Page 76
                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Duplication   14   1286            B
Deletion      14   1299            B
Deletion      14   1306            B
Duplication   14   1310            B
Deletion      14   1312            B                           X
Deletion      14   1313            B                           X
Duplication   14   1325            B                           X
Deletion      14   1326            B                           X
Deletion      14   1346            B                           X
Deletion      14   1347            B
Deletion      14   1349            B                           X
Deletion      14   1355            B                           X
Duplication   14   1381            B
Deletion      14   1381            B                               X
Deletion      14   1169            B
Deletion      14   1390            B                           X
Deletion      14   1392            B                           X
Duplication   14   1396            B                           X
Deletion      14   1403            B
Deletion       4    124            A1            Heavy chain
Deletion      14   1406            B                           X
Deletion      14   1408            B                               X
Deletion      14   1408            B                           X
Deletion      14   1411            B                           X
Deletion      14   1415            B                           X   X
Deletion      14   1421            B                               X
Deletion      14   1424            B                           X
Duplication   14   1425            B                           X
Deletion      14   1428            B                           X
Duplication   14   1428            B                           X
Deletion      14   1441            B                           X
Duplication   14   1441            B                           X   X


                                   Page 77
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             14   1441            B                           X   X   X
Deletion             14   1442            B                               X
Deletion             14   1442            B                           X
Deletion             14   1443            B
Deletion             14   1444            B                           X
Deletion             14   1449            B
Deletion             14   1451            B                           X
Deletion             14   1458            B                           X
Deletion             14   1458            B                           X
Deletion             14   1464            B                           X
Deletion             14   1464            B                           X
Duplication          14   1464            B                           X
Deletion             14   1465            B                           X
Deletion             14   1468            B
Deletion              4    130            A1            Heavy chain   X
Deletion             14   1474            B
Deletion             14   1476            B
Deletion             14   1479            B                           X
Deletion             14   1479            B                           X
Deletion             14   1479            B                               X
Duplication           4    132            A1            Heavy chain
Deletion             14   1485            B                           X
Deletion             14   1485            B                           X
Insertion/deletion   14   1486            B
                                                                      X
Deletion             14   1488            B                           X
Insertion            14   1496            B                           X
Deletion             14   1496            B                           X
Deletion             14   1498            B                           X
Deletion             14   1521            B                           X
Deletion             14   1524            B                           X
Duplication          14   1525            B


                                          Page 78
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             14   1534            B                           X
Deletion             14   1535            B
Insertion/deletion   14   1536            B                           X
Deletion             14   1539            B                               X
Deletion             14   1544            B                           X
Deletion             14   1544            B
Insertion            14   1550            B                           X
Deletion             14   1552            B                           X
Deletion             14   1555            B                           X
Deletion             14   1555            B                           X
Duplication          14   1573            B
Deletion             14   1575            B                           X
Duplication          14   1578            B
Deletion             14   1583            B                           X
Deletion             14   1584            B                           X
Deletion             14   1590            B                           X
Duplication          14   1590            B                           X   X
Deletion             14   1595            B                           X
Deletion             14   1598            B
Deletion             14   1601            B                           X
Deletion              4    144            A1            Heavy chain
Deletion             14   1613            B                           X
Duplication          14   1614            B                           X
Deletion             14   1614            B                           X
Deletion             14   1615            B                           X
Duplication          14   1619            B                           X
Duplication          14   1623            B
Deletion             14   1624            B                           X
Insertion            14   1646            B                           X
Deletion             14   1648            a3            Light chain   X
Deletion             14   1652            a3            Light chain   X
Substitution         14   1652            a3            Light chain


                                          Page 79
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution         14   1661            a3            Light chain   X
Insertion/deletion   14   1668            a3            Light chain   X
Substitution         14   1669            a3            Light chain
Substitution         14   1669            a3            Light chain
Deletion             14   1690            a3            Light chain   X
Insertion             4    153            A1            Heavy chain   X
Deletion             14   1695            A3               poly A     X
Deletion             14   1711            A3            Light chain   X
Deletion              4    155            A1            Heavy chain   X
Deletion             14   1719            A3            Light chain   X
Deletion             15   1724            A3            Light chain   X
Deletion             15   1728            A3            Light chain
Deletion             15   1729            A3            Light chain   X
Deletion             15   1738            A3            Light chain
Deletion             15   1761            A3            Light chain   X
Deletion             15   1764            A3            Light chain   X
Deletion             16   1781            A3            Light chain   X
Deletion             16   1790            A3            Light chain   X
Deletion             16   1791            A3            Light chain       X
Insertion/deletion    4    163            A1            Heavy chain           X
Deletion             16   1801            A3            Light chain
Deletion             16   1803            A3            Light chain   X
Deletion             16   1805            A3            Light chain   X
Duplication          16   1805            A3            Light chain   X   X
Deletion             16   1806            A3            Light chain   X
Deletion             16   1810            A3            Light chain   X
Duplication          16   1815            A3            Light chain
Deletion             16   1817            A3            Light chain
Deletion             16   1829            A3            Light chain   X
Deletion             16   1836            A3            Light chain   X
Deletion             16   1836            A3            Light chain   X
Deletion             16   1839            A3            Light chain   X


                                          Page 80
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             16   1840            A3            Light chain   X
Deletion             16   1840            A3            Light chain   X
Deletion             17   1846            A3            Light chain   X
Duplication          17   1846            A3            Light chain   X
Duplication          17   1856            A3            Light chain   X
Deletion             17   1861            A3            Light chain   X
Deletion             17   1862            A3            Light chain
Duplication          17   1865            A3            Light chain       X
Duplication          17   1874            A3            Light chain   X
Deletion             17   1876            A3            Light chain   X   X
Deletion             17   1878            A3            Light chain   X
Duplication          17   1881            A3            Light chain
Deletion             17   1880            A3            Light chain   X
Duplication          17   1888            A3               poly A
Deletion             17   1899            A3            Light chain   X
Deletion             17   1905            A3            Light chain   X
Deletion             18   1953            A3            Light chain   X
Duplication          18   1956            A3            Light chain   X
Deletion             18   1966            A3            Light chain   X
Deletion             18   1966            A3            Light chain   X
Deletion             18   1968            A3            Light chain   X
Deletion             18   1969            A3            Light chain   X
Duplication          18   1969            A3               poly A     X
Duplication          18   1971            A3            Light chain
Deletion             18   1973            A3            Light chain   X   X
Deletion             18   1973            A3            Light chain   X
Insertion/deletion   19   1984            A3            Light chain   X
Duplication          19   1991            A3            Light chain   X
Deletion             19   1998            A3            Light chain   X
Duplication          19   2005            A3            Light chain       X
Deletion             19   2010            A3            Light chain   X
Duplication          19   2011            A3            Light chain   X


                                          Page 81
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Insertion/deletion   19   2013            A3            Light chain   X
Deletion             19   2015            A3            Light chain   X
Deletion             20   2020            A3            Light chain   X
Deletion             20   2021            A3            Light chain   X
Deletion             20   2025            C1            Light chain   X
Duplication          20   2027            C1            Light chain       X
Duplication          20   2037            C1            Light chain   X
Duplication          21   2068            C1            Light chain   X
Duplication          21   2054            C1            Light chain   X
Insertion            22   2076            C1            Light chain   X
Deletion             22   2080            C1            Light chain   X
Duplication          22   2086            C1            Light chain
Deletion             22   2087            C1            Light chain       X
Insertion            22   2089            C1            Light chain   X
Deletion             22   2089            C1            Light chain   X
Deletion             22   2090            C1            Light chain   X
Duplication          22   2098            C1            Light chain   X
Duplication          22   2102            C1            Light chain   X
Deletion              5    193            A1            Heavy chain   X
Deletion             22   2105            C1            Light chain   X
Deletion             22   2119            C1            Light chain
Duplication           5    196            A1            Heavy chain
Deletion             23   2136            C1            Light chain
Deletion             23   2137            C1            Light chain   X
Deletion             23   2138            C1            Light chain   X
Deletion             23   2140            C1            Light chain   X
Deletion             23   2145            C1            Light chain   X
Deletion             23   2146            C1            Light chain   X
Deletion             23   2147            C1            Light chain   X
Deletion             23   2148            C1            Light chain   X
Deletion             23   2160            C1            Light chain   X
Substitution         14    751            B                                   X


                                          Page 82
                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion      24   2180            C2            Light chain   X
Deletion      24   2182            C2            Light chain       X
Duplication   24   2185            C2            Light chain   X
Deletion      24   2198            C2            Light chain   X
Deletion      24   2199            C2            Light chain   X
Duplication   24   2199            C2            Light chain   X
Deletion      24   2215            C2            Light chain   X
Deletion      25   2228            C2               poly A     X
Deletion      25   2228            C2            Light chain   X
Deletion      25   2235            C2            Light chain   X
Duplication   25   2245            C2            Light chain   X
Deletion      25   2246            C2            Light chain   X
Deletion      25   2247            C2            Light chain   X
Deletion      25   2251            C2            Light chain   X
Deletion      25   2256            C2            Light chain       X
Deletion       6    210            A1            Heavy chain       X
Deletion      25   2267            C2            Light chain
Deletion      25   2275            C2            Light chain   X   X
Deletion       6    211            A1            Heavy chain   X
Deletion      25   2275            C2            Light chain   X
Duplication   25   2276            C2            Light chain   X
Duplication   25   2282            C2            Light chain   X
Deletion      26   2284            C2            Light chain   X
Deletion      26   2286            C2            Light chain   X
Deletion      26   2287            C2            Light chain       X
Deletion      26   2287            C2            Light chain
Deletion      26   2288            C2            Light chain   X
Deletion       6    213            A1            Heavy chain   X
Deletion      26   2299            C2            Light chain   X
Duplication   26   2304            C2            Light chain
Deletion      26   2311            C2            Light chain       X
Deletion      26   2311            C2            Light chain   X


                                   Page 83
                                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion                    26           2314            C2           Light chain      X
Deletion                    26           2319            C2           Light chain
Deletion                    26           2333            C2           Light chain              X
Deletion                     6            219            A1           Heavy chain      X
Deletion                     1             5             A1           Heavy chain
Deletion                     6            225            A1           Heavy chain          X
Deletion                     6            233            A1           Heavy chain      X
Duplication                  6            244            A1           Heavy chain      X
Insertion                    6            239            A1           Heavy chain      X
Deletion                     6            243            A1           Heavy chain
Deletion                     7            265            A1           Heavy chain      X
Duplication                  7            267            A1           Heavy chain          X
Insertion                    7            268            A1           Heavy chain
Deletion                     7            278            A1           Heavy chain      X
Deletion                     7            284            A1           Heavy chain      X
Deletion                     7            288            A1           Heavy chain
Deletion                     7            293            A1           Heavy chain      X
Deletion                     7            296            A1           Heavy chain
Deletion                     7            297            A1           Heavy chain      X
Insertion/deletion           1            13             A1           Heavy chain      X
Deletion                     7            299            A1           Heavy chain
Deletion                     7            300            A1           Heavy chain      X   X
Deletion                     7            306            A1           Heavy chain      X
Duplication                  7            310            A1           Heavy chain      X
Deletion                     7            312            A1           Heavy chain      X   X
Deletion                   4-10                                     multiple domains
                                                                                       X
Deletion                   8-9                                       single domain     X
Deletion             Promoter - Exon 8                              multiple domains   X
Deletion             Promoter - Exon 1                               single domain     X
Deletion             Promoter - Exon 5                               single domain     X
Deletion             Promoter - Exon 6                               single domain


                                                         Page 84
                                  1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             9-11                                      single domain    X
Inversion          Intron 1                                                     X
Deletion      Intron 1 - Exon 4                              multiple domains   X
Deletion              2-8                                    multiple domains       X
Deletion              2-9                                    multiple domains   X
Deletion             2-13                                    multiple domains   X
Deletion              2-3                                     single domain     X
Duplication          2-14                                    multiple domains   X
Deletion              2-4                                     single domain     X
Deletion             2-22                                    multiple domains   X
Deletion              2-5                                     single domain     X
Deletion             2-25                                    multiple domains   X
Duplication          2-25                                    multiple domains   X
Deletion              2-6                                     single domain
Duplication           2-6                                     single domain     X
Deletion              10                                      single domain     X
Deletion            10-11                                     single domain
Deletion            10-13                                     single domain
Deletion            10-18                                    multiple domains
Deletion              11                                      single domain
Deletion            11-22                                    multiple domains
Deletion            11-25                                    multiple domains   X
Deletion              1-7                                    multiple domains   X
Deletion              1-8                                    multiple domains   X
Deletion               1                                      single domain     X
Deletion             1-14                                    multiple domains   X
Deletion             1-22                                    multiple domains
Deletion              1-5                                     single domain     X
Duplication           1-5                                     single domain     X
Deletion             1-26                                    multiple domains
Deletion              1-6                                     single domain     X
Deletion            12-25                                    multiple domains   X


                                                  Page 85
                                  1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion              13                                      single domain     X
Duplication           13                                      single domain             X
Deletion            13-22                                    multiple domains   X
Deletion            13-23                                    multiple domains       X
Deletion            13-25                                    multiple domains   X
Deletion            13-26                                    multiple domains   X
Deletion      Intron 13/Exon 14                               single domain     X
Deletion              14                                      single domain     X   X
Duplication           14                                      single domain     X
Deletion            14-16                                     single domain     X
Deletion            14-21                                     single domain     X
Duplication         14-21                                     single domain     X
Deletion            14-22                                    multiple domains
Deletion            14-26                                    multiple domains   X
Deletion             3-13                                    multiple domains   X
Deletion               3                                      single domain     X
Deletion              3-4                                     single domain     X
Deletion              3-5                                     single domain     X
Insertion             14          1003            B
Insertion             14          1200            B
Insertion             14          1224            B
Deletion              4-7                                    multiple domains   X
Deletion             4-10                                    multiple domains   X
Deletion               4                                      single domain     X
Deletion             4-21                                    multiple domains
Deletion              4-5                                     single domain         X
Deletion             4-25                                    multiple domains   X
Deletion              4-6                                     single domain         X
Deletion              15                                      single domain
Deletion            15-18                                     single domain
Deletion            15-20                                     single domain     X
Deletion            15-21                                     single domain     X


                                                  Page 86
                                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion             15-22                                     multiple domains   X
Deletion      Intron 15 - Exon 16                               single domain     X
Deletion               16                                       single domain         X
Deletion             16-26                                     multiple domains   X
Deletion               17                                       single domain
Duplication            17                                       single domain         X
Deletion             17-19                                      single domain
Deletion             17-22                                     multiple domains   X
Insertion              17           1908            A3            Light chain
Deletion             18-19                                      single domain
Deletion               19                                       single domain     X
Deletion             19-21                                      single domain     X
Deletion             19-22                                     multiple domains   X
Deletion              5-7                                      multiple domains
Deletion              5-9                                      multiple domains   X
Deletion              5-10                                     multiple domains   X
Deletion              5-13                                     multiple domains   X
Deletion              5-14                                     multiple domains   X
Deletion                5                                       single domain     X
Duplication           5-25                                     multiple domains   X
Deletion              5-6                                       single domain     X   X
Deletion             21-22                                     multiple domains   X
Deletion               22                                       single domain     X   X
Inversion          Intron 22                                    single domain     X   X
Deletion      Intron 22 - Exon 26                              multiple domains
Deletion             23-24                                      single domain
Deletion             23-25                                      single domain     X
Duplication          23-25                                      single domain     X
Deletion             23-26                                     multiple domains
Deletion               24                                       single domain     X
Deletion             24-25                                      single domain     X
Deletion              6-14                                     multiple domains   X


                                                    Page 87
                            1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion            6                                   single domain     X
Deletion           25                                   single domain     X
Deletion           25                                   single domain     X
Deletion       26 - 3'UTR                               single domain     X
Deletion           26                                   single domain     X
Deletion            7                                   single domain     X
Deletion           7-9                                  single domain     X
Deletion          7-10                                  single domain
Duplication       7-11                                  single domain     X
Deletion          7-13                                 multiple domains   X
Deletion          7-14                                 multiple domains   X
Deletion          7-20                                 multiple domains   X
Deletion          7-22                                 multiple domains
Deletion          7-26                                 multiple domains   X
Substitution        7       318             A1           Heavy chain              X
Substitution        8       320             A1           Heavy chain          X
Substitution        8       320             A1           Heavy chain      X
Substitution        8       320             A1           Heavy chain
Substitution        8       321             A1           Heavy chain              X
Substitution        8       321             A1           Heavy chain              X
Substitution        8       323             A1           Heavy chain          X
Substitution        1       15              A1           Heavy chain
Substitution        8       326             A1           Heavy chain
Substitution        8       326             A1           Heavy chain
Substitution        8       326             A1           Heavy chain          X
Substitution        1       16              A1           Heavy chain      X
Substitution        8       329             A1           Heavy chain      X
Substitution        8       329             A1           Heavy chain      X       X
Substitution        8       329             A1           Heavy chain          X
Substitution        1       16              A1           Heavy chain
Substitution        8       346             a1           Heavy chain              X
Substitution        8       357             a1           Heavy chain              X


                                            Page 88
                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   8   371             a1            Heavy chain           X
Substitution   8   372             a1            Heavy chain           X
Substitution   8   372             a1            Heavy chain   X   X   X
Substitution   8   372             a1            Heavy chain   X   X   X
Substitution   8   372             a1            Heavy chain       X
Substitution   8   373             a1            Heavy chain       X
Substitution   8   373             a1            Heavy chain           X
Substitution   8   375             A2            Heavy chain
Substitution   8   376             A2            Heavy chain           X
Substitution   8   376             A2            Heavy chain
Substitution   8   380             A2            Heavy chain           X
Substitution   8   382             A2            Heavy chain           X
Substitution   8   384             A2            Heavy chain   X
Substitution   8   386             A2            Heavy chain       X
Substitution   8   386             A2            Heavy chain       X
Substitution   8   386             A2            Heavy chain   X
Substitution   1   22              A1            Heavy chain   X       X
Substitution   8   390             A2            Heavy chain   X   X
Substitution   8   392             A2            Heavy chain           X
Substitution   8   393             A2            Heavy chain   X
Substitution   8   393             A2            Heavy chain   X
Substitution   8   394             A2            Heavy chain           X
Substitution   8   394             A2            Heavy chain       X
Substitution   8   395             A2            Heavy chain   X
Substitution   8   396             A2            Heavy chain           X
Substitution   8   396             A2            Heavy chain       X
Substitution   8   397             A2            Heavy chain       X
Substitution   8   403             A2            Heavy chain   X
Substitution   9   412             A2            Heavy chain           X
Substitution   9   412             A2            Heavy chain       X   X
Substitution   9   415             A2            Heavy chain   X
Substitution   9   418             A2            Heavy chain   X


                                   Page 89
                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   9   419             A2            Heavy chain       X
Substitution   9   419             A2            Heavy chain
Substitution   9   420             A2            Heavy chain       X
Substitution   9   420             A2            Heavy chain
Substitution   9   420             A2            Heavy chain   X
Substitution   9   420             A2            Heavy chain
Substitution   9   420             A2            Heavy chain   X   X
Substitution   9   423             A2            Heavy chain
Substitution   9   423             A2            Heavy chain   X
Substitution   9   425             A2            Heavy chain   X
Substitution   9   425             A2            Heavy chain   X
Substitution   9   425             A2            Heavy chain
Substitution   9   425             A2            Heavy chain   X
Substitution   9   426             A2            Heavy chain   X
Substitution   9   427             A2            Heavy chain           X
Substitution   9   427             A2            Heavy chain
Substitution   9   427             A2            Heavy chain   X
Substitution   9   431             A2            Heavy chain       X   X
Substitution   9   431             A2            Heavy chain
Substitution   9   431             A2            Heavy chain           X
Substitution   9   435             A2            Heavy chain           X
Substitution   9   436             A2            Heavy chain
Substitution   9   436             A2            Heavy chain       X
Substitution   9   447             A2            Heavy chain
Substitution   9   447             A2            Heavy chain   X
Substitution   9   448             A2            Heavy chain   X
Substitution   9   450             A2            Heavy chain   X
Substitution   9   450             A2            Heavy chain       X
Substitution   9   451             A2            Heavy chain       X   X
Substitution   9   451             A2            Heavy chain           X
Substitution   9   451             A2            Heavy chain   X       X
Substitution   9   453             A2            Heavy chain


                                   Page 90
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    9   455             A2            Heavy chain   X
Substitution    9   455             A2            Heavy chain   X
Substitution    9   455             A2            Heavy chain   X
Substitution    9   455             A2            Heavy chain
Substitution    9   456             A2            Heavy chain       X
Substitution    9   458             A2            Heavy chain       X
Substitution    9   459             A2            Heavy chain       X
Substitution    9   459             A2            Heavy chain           X
Substitution    9   459             A2            Heavy chain           X
Substitution    9   461             A2            Heavy chain       X
Substitution    1   29              A1            Heavy chain   X
Substitution   10   463             A2            Heavy chain   X
Substitution   10   463             A2            Heavy chain
Substitution   10   465             A2            Heavy chain           X
Substitution   10   465             A2            Heavy chain           X
Substitution   10   466             A2            Heavy chain           X
Substitution   10   467             A2            Heavy chain       X
Substitution   10   469             A2            Heavy chain
Substitution   10   469             A2            Heavy chain       X
Substitution   10   471             A2            Heavy chain           X
Substitution   10   473             A2            Heavy chain
Substitution   10   475             A2            Heavy chain           X
Substitution   10   477             A2            Heavy chain
Substitution   10   479             A2            Heavy chain   X   X   X
Substitution   10   483             A2            Heavy chain
Substitution   10   483             A2            Heavy chain
Substitution   10   494             A2            Heavy chain       X
Substitution   11   494             A2            Heavy chain
Substitution   11   506             A2            Heavy chain           X
Substitution   11   510             A2            Heavy chain       X
Substitution   11   510             A2            Heavy chain           X
Substitution   11   511             A2            Heavy chain


                                    Page 91
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   11   511             A2            Heavy chain           X
Substitution   11   513             A2            Heavy chain   X
Substitution   11   515             A2            Heavy chain
Substitution   11   520             A2            Heavy chain   X
Substitution   11   520             A2            Heavy chain           X
Substitution   11   521             A2            Heavy chain       X
Substitution   11   521             A2            Heavy chain
Substitution   11   522             A2            Heavy chain           X
Substitution   11   525             A2            Heavy chain           X
Substitution   11   525             A2            Heavy chain   X
Substitution   11   526             A2            Heavy chain           X
Substitution   11   527             A2            Heavy chain       X   X
Substitution   11   528             A2            Heavy chain   X
Substitution   11   528             A2            Heavy chain   X
Substitution   11   531             A2            Heavy chain           X
Substitution   11   531             A2            Heavy chain       X   X
Substitution   11   531             A2            Heavy chain           X
Substitution   11   533             A2            Heavy chain   X
Substitution   11   534             A2            Heavy chain   X
Substitution   11   534             A2            Heavy chain           X
Substitution   11   535             A2            Heavy chain       X   X
Substitution   11   537             A2            Heavy chain       X
Substitution   11   541             A2            Heavy chain           X
Substitution   11   541             A2            Heavy chain           X
Substitution   11   542             A2            Heavy chain   X
Substitution   11   542             A2            Heavy chain   X
Substitution   11   542             A2            Heavy chain   X
Substitution   11   542             A2            Heavy chain   X
Substitution   11   542             A2            Heavy chain   X
Substitution   11   543             A2            Heavy chain           X
Substitution   11   544             A2            Heavy chain       X
Substitution   11   546             A2            Heavy chain       X


                                    Page 92
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   11   547             A2            Heavy chain   X
Substitution   11   548             A2            Heavy chain           X
Substitution   11   548             A2            Heavy chain           X
Substitution   11   549             A2            Heavy chain   X   X
Substitution   11   549             A2            Heavy chain   X
Substitution   11   550             A2            Heavy chain
Substitution   11   553             A2            Heavy chain           X
Substitution   11   554             A2            Heavy chain       X
Substitution   11   557             A2            Heavy chain           X
Substitution   11   558             A2            Heavy chain       X
Substitution   11   558             A2            Heavy chain           X
Substitution   11   559             A2            Heavy chain           X
Substitution   11   560             A2            Heavy chain           X
Substitution   11   560             A2            Heavy chain
Substitution   11   560             A2            Heavy chain           X
Substitution   11   563             A2            Heavy chain   X
Substitution   11   563             A2            Heavy chain           X
Substitution   11   564             A2            Heavy chain           X
Substitution   11   565             A2            Heavy chain       X
Substitution   11   565             A2            Heavy chain   X       X
Substitution   11   565             A2            Heavy chain           X
Substitution   12   566             A2            Heavy chain   X   X
Substitution   12   566             A2            Heavy chain       X
Substitution   12   567             A2            Heavy chain           X
Substitution   12   569             A2            Heavy chain
Substitution   12   569             A2            Heavy chain   X
Substitution   12   575             A2            Heavy chain           X
Substitution   12   577             A2            Heavy chain
Substitution   12   580             A2            Heavy chain   X
Substitution   12   581             A2            Heavy chain   X
Substitution   12   581             A2            Heavy chain
Substitution   12   582             A2            Heavy chain   X


                                    Page 93
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   12   582             A2            Heavy chain   X
Substitution   12   583             A2            Heavy chain           X
Substitution   12   584             A2            Heavy chain           X
Substitution   12   584             A2            Heavy chain   X
Substitution   12   584             A2            Heavy chain   X
Substitution   12   584             A2            Heavy chain
Substitution   12   584             A2            Heavy chain   X   X
Substitution   12   585             A2            Heavy chain
Substitution   12   585             A2            Heavy chain   X
Substitution   12   586             A2            Heavy chain           X
Substitution   12   586             A2            Heavy chain   X
Substitution   12   590             A2            Heavy chain       X
Substitution   12   593             A2            Heavy chain       X   X
Substitution   12   593             A2            Heavy chain   X
Substitution   12   605             A2            Heavy chain
Substitution   12   612             A2            Heavy chain   X
Substitution   12   612             A2            Heavy chain
Substitution   12   612             A2            Heavy chain   X
Substitution   12   612             A2            Heavy chain   X
Substitution   12   614             A2            Heavy chain
Substitution   12   614             A2            Heavy chain           X
Substitution   12   614             A2            Heavy chain           X
Substitution   13   616             A2            Heavy chain           X
Substitution   13   617             A2            Heavy chain   X
Substitution   13   618             A2            Heavy chain
Substitution    2   45              A1            Heavy chain           X
Substitution   13   618             A2            Heavy chain   X       X
Substitution   13   618             A2            Heavy chain
Substitution   13   619             A2            Heavy chain   X
Substitution   13   619             A2            Heavy chain
Substitution   13   620             A2            Heavy chain       X
Substitution   13   621             A2            Heavy chain       X


                                    Page 94
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   13   622             A2            Heavy chain           X
Substitution   13   625             A2            Heavy chain           X
Substitution   13   625             A2            Heavy chain   X
Substitution   13   626             A2            Heavy chain       X
Substitution   13   630             A2            Heavy chain           X
Substitution   13   630             A2            Heavy chain       X
Substitution   13   630             A2            Heavy chain   X
Substitution   13   631             A2            Heavy chain           X
Substitution   13   634             A2            Heavy chain   X
Substitution   13   634             A2            Heavy chain       X
Substitution   13   636             A2            Heavy chain       X
Substitution   13   636             A2            Heavy chain           X
Substitution   13   637             A2            Heavy chain           X
Substitution   13   637             A2            Heavy chain
Substitution   13   640             A2            Heavy chain
Substitution   13   643             A2            Heavy chain   X
Substitution   13   644             A2            Heavy chain           X
Substitution   13   645             A2            Heavy chain   X
Substitution   13   645             A2            Heavy chain
Substitution   13   645             A2            Heavy chain
Substitution    2   48              A1            Heavy chain   X
Substitution    1   -19           Signal                        X
Substitution   13   651             A2            Heavy chain           X
Substitution   13   652             A2            Heavy chain           X
Substitution    2   48              A1            Heavy chain
Substitution    2   48              A1            Heavy chain       X
Substitution   13   655             A2            Heavy chain   X
Substitution   13   657             A2            Heavy chain           X
Substitution   13   658             A2            Heavy chain       X
Substitution   13   658             A2            Heavy chain
Substitution    2   49              A1            Heavy chain   X
Substitution    2   49              A1            Heavy chain   X


                                    Page 95
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   13   660             A2            Heavy chain           X
Substitution    2   49              A1            Heavy chain       X
Substitution   13   662             A2            Heavy chain
Substitution   13   662             A2            Heavy chain           X
Substitution   13   662             A2            Heavy chain
Substitution   13   663             A2            Heavy chain       X   X
Substitution   13   664             A2            Heavy chain           X
Substitution   13   664             A2            Heavy chain   X   X
Substitution   13   667             A2            Heavy chain       X
Substitution   13   668             A2            Heavy chain           X
Substitution    2   50              A1            Heavy chain   X
Substitution   13   668             A2            Heavy chain   X
Substitution   13   669             A2            Heavy chain
Substitution   13   670             A2            Heavy chain       X
Substitution    2   50              A1            Heavy chain       X
Substitution   13   672             A2            Heavy chain
Substitution   13   674             A2            Heavy chain   X
Substitution   13   674             A2            Heavy chain
Substitution   13   675             A2            Heavy chain
Substitution   13   676             A2            Heavy chain           X
Substitution   13   677             A2            Heavy chain           X
Substitution   13   678             A2            Heavy chain   X   X
Substitution   13   678             A2            Heavy chain           X
Substitution   13   679             A2            Heavy chain           X
Substitution   13   680             A2            Heavy chain   X
Substitution   13   680             A2            Heavy chain       X
Substitution   13   680             A2            Heavy chain       X
Substitution   13   680             A2            Heavy chain           X
Substitution   13   680             A2            Heavy chain       X
Substitution    2   51              A1            Heavy chain   X
Substitution   13   682             A2            Heavy chain
Substitution   13   682             A2            Heavy chain       X


                                    Page 96
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   13        684             A2            Heavy chain
Substitution   13        684             A2            Heavy chain           X
Substitution   13        686             A2            Heavy chain
Substitution   13        686             A2            Heavy chain
Substitution   14        686             A2            Heavy chain
Substitution   14        688             A2            Heavy chain           X
Substitution   14        691             A2            Heavy chain
Substitution   14        691             A2            Heavy chain   X
Substitution   14        692             A2            Heavy chain           X
Substitution   14        692             A2            Heavy chain   X
Substitution   14        692             A2            Heavy chain       X
Substitution   14        694             A2            Heavy chain           X
Substitution   14        695             A2            Heavy chain           X
Substitution   14        698             A2            Heavy chain       X   X
Substitution    2        53              A1            Heavy chain       X
Substitution    2        53              A1            Heavy chain
Substitution   14        698             A2            Heavy chain           X
Substitution   14        698             A2            Heavy chain           X
Substitution        14   700             A2            Heavy chain
Substitution   14        701             A2            Heavy chain   X
Substitution   14        701             A2            Heavy chain   X
Substitution   14        701             A2            Heavy chain   X   X
Substitution   14        701             A2            Heavy chain   X
Substitution   14        702             A2            Heavy chain       X
Substitution   14        702             A2            Heavy chain
Substitution   14        702             A2            Heavy chain           X
Substitution   14        702             A2            Heavy chain   X
Substitution   14        702             A2            Heavy chain   X
Substitution   14        704             A2            Heavy chain       X   X
Substitution   14        704             A2            Heavy chain           X
Substitution   14        704             A2            Heavy chain   X
Substitution    2        53              A1            Heavy chain           X


                                         Page 97
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   14   705             A2            Heavy chain           X
Substitution   14   706             A2            Heavy chain   X
Substitution   14   708             A2            Heavy chain   X
Substitution    2   54              A1            Heavy chain       X
Substitution   14   711             A2            Heavy chain   X
Substitution   14   719             a2            Heavy chain           X
Substitution   14   720             a2            Heavy chain           X
Substitution   14   723             a2            Heavy chain           X
Substitution    2   56              A1            Heavy chain   X
Substitution   14   731             a2            Heavy chain       X
Substitution    2   56              A1            Heavy chain       X
Substitution   14   826             B                           X
Substitution    2   58              A1            Heavy chain   X
Substitution    2   62              A1            Heavy chain           X
Substitution    2   64              A1            Heavy chain
Substitution    2   65              A1            Heavy chain       X
Substitution   14   893             B                           X
Substitution    2   70              A1            Heavy chain   X
Substitution    3   70              A1            Heavy chain   X   X
Substitution    3   70              A1            Heavy chain   X
Substitution    3   71              A1            Heavy chain   X
Substitution   14   916             B                           X
Substitution    3   73              A1            Heavy chain       X   X
Substitution    3   73              A1            Heavy chain
Substitution    3   73              A1            Heavy chain           X
Substitution    3   74              A1            Heavy chain
Substitution    3   74              A1            Heavy chain   X
Substitution   14   944             B
Substitution    3   75              A1            Heavy chain           X
Substitution    3   76              A1            Heavy chain           X
Substitution    3   76              A1            Heavy chain   X
Substitution    3   76              A1            Heavy chain           X


                                    Page 98
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   14    979             B                          X
Substitution    3    78             A1            Heavy chain   X
Substitution    3    79             A1            Heavy chain   X
Substitution    3    79             A1            Heavy chain
Substitution    3    79             A1            Heavy chain       X
Substitution    3    80             A1            Heavy chain   X   X
Substitution    3    80             A1            Heavy chain           X
Substitution   14    993             B
Substitution    1    -19          Signal
Substitution    1    -19          Signal                        X
Substitution    3    82             A1            Heavy chain   X
Substitution    3    82             A1            Heavy chain   X
Substitution    3    82             A1            Heavy chain
Substitution   14   1047             B                          X
Substitution    3    84             A1            Heavy chain
Substitution    3    84             A1            Heavy chain           X
Substitution    3    85             A1            Heavy chain       X   X
Substitution    3    85             A1            Heavy chain
Substitution   14   1069             B                          X
Substitution    3    88             A1            Heavy chain           X
Substitution    3    89             A1            Heavy chain
Substitution    3    90             A1            Heavy chain
Substitution   14   1091             B                                  X
Substitution    3    91             A1            Heavy chain           X
Substitution   14   1215             B                          X
Substitution    3    92             A1            Heavy chain
Substitution   14   1260             B
Substitution    3    92             A1            Heavy chain           X
Substitution    3    94             A1            Heavy chain           X
Substitution    3    94             A1            Heavy chain
Substitution    3    94             A1            Heavy chain
Substitution    3    95             A1            Heavy chain


                                    Page 99
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    3    96             A1            Heavy chain   X
Substitution    3    96             A1            Heavy chain       X
Substitution    3    96             A1            Heavy chain
Substitution    3    97             A1            Heavy chain
Substitution    3    98             A1            Heavy chain           X
Substitution    3    98             A1            Heavy chain
Substitution    3    98             A1            Heavy chain   X
Substitution    3    99             A1            Heavy chain   X   X
Substitution    3    101            A1            Heavy chain           X
Substitution    3    101            A1            Heavy chain
Substitution    3    102            A1            Heavy chain       X
Substitution    3    102            A1            Heavy chain   X
Substitution    3    102            A1            Heavy chain       X
Substitution    3    102            A1            Heavy chain   X
Substitution    3    102            A1            Heavy chain   X
Substitution    3    104            A1            Heavy chain       X
Substitution    3    104            A1            Heavy chain
Substitution   14   1310             B                                  X
Substitution    3    107            A1            Heavy chain   X
Substitution   14   1353             B
Substitution    3    110            A1            Heavy chain   X
Substitution    3    110            A1            Heavy chain   X
Substitution    3    110            A1            Heavy chain   X
Substitution    3    111            A1            Heavy chain   X   X
Substitution   14   1426             B                          X
Substitution    4    113            A1            Heavy chain       X
Substitution    4    113            A1            Heavy chain   X   X   X
Substitution   14   1441             B                                  X
Substitution    4    114            A1            Heavy chain           X
Substitution    4    114            A1            Heavy chain           X
Deletion        1     -6          Signal                        X
Substitution    1    -19          Signal


                                    Page 100
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    4    116            A1            Heavy chain   X
Substitution    4    116            A1            Heavy chain   X
Substitution    4    116            A1            Heavy chain   X
Substitution    4    116            A1            Heavy chain   X
Substitution    4    117            A1            Heavy chain   X
Substitution    4    118            A1            Heavy chain   X
Substitution    4    118            A1            Heavy chain   X
Substitution    4    118            A1            Heavy chain       X   X
Substitution   14   1462             B
Substitution    4    119            A1            Heavy chain
Substitution    4    122            A1            Heavy chain   X   X
Substitution    4    125            A1            Heavy chain       X
Substitution    4    125            A1            Heavy chain       X
Substitution    4    125            A1            Heavy chain           X
Substitution    1     -9          Signal                                X
Substitution    4    126            A1            Heavy chain       X
Substitution    4    126            A1            Heavy chain   X
Substitution    4    127            A1            Heavy chain           X
Substitution   14   1511             B                                  X
Substitution    4    128            A1            Heavy chain
Substitution   14   1579             B                          X
Substitution    4    130            A1            Heavy chain
Substitution    4    130            A1            Heavy chain
Substitution   14   1591             B                          X
Substitution    4    135            A1            Heavy chain           X
Substitution    4    135            A1            Heavy chain           X
Substitution    4    136            A1            Heavy chain       X
Substitution    4    140            A1            Heavy chain       X
Substitution    1     -7          Signal                            X
Substitution   14   1603             B                          X
Substitution    4    143            A1            Heavy chain           X
Substitution   14   1639             B                                  X


                                    Page 101
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    4    144            A1            Heavy chain       X
Substitution    4    145            A1            Heavy chain           X
Substitution    4    145            A1            Heavy chain   X   X
Substitution    4    145            A1            Heavy chain
Substitution    4    146            A1            Heavy chain   X
Substitution    4    146            A1            Heavy chain   X
Substitution    4    147            A1            Heavy chain           X
Substitution   14   1641             B                          X
Substitution    1    -19          Signal                        X
Substitution    4    147            A1            Heavy chain           X
Deletion       14   1672            a3            Light chain   X
Substitution   14   1677            a3            Light chain
Substitution   14   1679            a3            Light chain           X
Substitution    4    151            A1            Heavy chain           X
Substitution   14   1680            a3            Light chain
Substitution   14   1680            a3            Light chain       X   X
Substitution   14   1682            a3            Light chain           X
Duplication    14   1685            a3            Light chain   X
Duplication    14   1686            a3            Light chain       X
Substitution   14   1686            a3            Light chain   X   X
Deletion       14   1689            a3            Light chain
Substitution   14   1690            a3            Light chain           X
Substitution   14   1695            A3            Light chain       X
Substitution   14   1695            A3            Light chain           X
Substitution   14   1696            A3            Light chain       X   X
Substitution   14   1696            A3            Light chain
Substitution   14   1696            A3            Light chain       X
Substitution    4    153            A1            Heavy chain   X
Substitution   14   1698            A3            Light chain   X       X
Substitution   14   1699            A3            Light chain           X
Substitution   14   1701            A3            Light chain           X
Substitution   14   1701            A3            Light chain   X


                                    Page 102
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   14   1701            A3            Light chain
Substitution    4    153            A1            Heavy chain   X   X
Substitution   14   1704            A3            Light chain   X
Substitution    4    153            A1            Heavy chain   X
Substitution   14   1707            A3            Light chain
Substitution    4    154            A1            Heavy chain           X
Substitution   14   1708            A3            Light chain           X
Substitution   14   1709            A3            Light chain   X
Substitution   14   1709            A3            Light chain   X       X
Substitution   14   1710            A3            Light chain           X
Substitution   14   1711            A3            Light chain   X
Substitution    4    154            A1            Heavy chain
Substitution    4    155            A1            Heavy chain           X
Substitution   14   1721            A3            Light chain
Substitution   14   1721            A3            Light chain   X   X
Substitution    4    155            A1            Heavy chain   X
Substitution    4    156            A1            Heavy chain
Substitution   15   1732            A3            Light chain   X
Substitution   15   1732            A3            Light chain       X
Substitution   15   1732            A3            Light chain   X
Substitution   15   1732            A3            Light chain
Substitution   15   1733            A3            Light chain           X
Substitution   15   1733            A3            Light chain   X
Substitution   15   1735            A3            Light chain   X
Substitution   15   1738            A3            Light chain       X
Substitution    4    157            A1            Heavy chain           X
Substitution   15   1738            A3            Light chain           X
Substitution   15   1740            A3            Light chain           X
Substitution   15   1742            A3            Light chain   X
Substitution   15   1743            A3            Light chain           X
Substitution   15   1743            A3            Light chain
Substitution   15   1745            A3            Light chain   X


                                    Page 103
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   15   1749            A3            Light chain           X
Substitution   15   1749            A3            Light chain           X
Substitution   15   1750            A3            Light chain           X
Substitution   15   1751            A3            Light chain   X
Substitution    4    158            A1            Heavy chain   X
Substitution   15   1752            A3            Light chain           X
Substitution   15   1753            A3            Light chain
Substitution   15   1755            A3            Light chain           X
Substitution   15   1755            A3            Light chain   X
Substitution   15   1755            A3            Light chain   X
Substitution   15   1756            A3            Light chain       X
Substitution   15   1756            A3            Light chain           X
Substitution   15   1756            A3            Light chain           X
Substitution   15   1757            A3            Light chain
Substitution   15   1758            A3            Light chain           X
Substitution    4    159            A1            Heavy chain   X
Substitution   15   1758            A3            Light chain       X
Substitution   15   1760            A3            Light chain   X
Substitution   15   1760            A3            Light chain   X
Substitution   15   1761            A3            Light chain           X
Substitution   15   1761            A3            Light chain       X
Substitution   15   1763            A3            Light chain   X
Substitution   15   1764            A3            Light chain           X
Substitution   15   1766            A3            Light chain       X
Substitution   15   1766            A3            Light chain           X
Substitution   15   1767            A3            Light chain           X
Substitution    4    160            A1            Heavy chain
Substitution   15   1769            A3            Light chain           X
Substitution   15   1769            A3            Light chain       X
Substitution   15   1769            A3            Light chain       X
Substitution    4    160            A1            Heavy chain   X
Substitution   15   1772            A3            Light chain   X


                                    Page 104
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   15   1772            A3            Light chain       X
Substitution   16   1773            A3            Light chain           X
Substitution   16   1775            A3            Light chain           X
Substitution   16   1775            A3            Light chain   X
Substitution   16   1777            A3            Light chain
Substitution    4    161            A1            Heavy chain
Substitution   16   1779            A3            Light chain   X
Substitution   16   1779            A3            Light chain   X
Substitution   16   1779            A3            Light chain       X
Substitution   16   1779            A3            Light chain       X
Substitution   16   1780            A3            Light chain           X
Substitution   16   1781            A3            Light chain
Substitution   16   1781            A3            Light chain       X   X
Substitution   16   1781            A3            Light chain       X
Substitution   16   1781            A3            Light chain   X   X   X
Substitution   16   1782            A3            Light chain           X
Substitution   16   1783            A3            Light chain   X
Substitution   16   1783            A3            Light chain           X
Substitution   16   1784            A3            Light chain   X
Substitution   16   1784            A3            Light chain
Substitution   16   1785            A3            Light chain   X
Substitution   16   1786            A3            Light chain
Substitution   16   1786            A3            Light chain           X
Substitution   16   1786            A3            Light chain       X
Substitution   16   1788            A3            Light chain
Substitution    4    162            A1            Heavy chain       X   X
Substitution   16   1788            A3            Light chain
Substitution   16   1789            A3            Light chain           X
Substitution   16   1791            A3            Light chain       X   X
Substitution    4    162            A1            Heavy chain           X
Substitution    4    163            A1            Heavy chain           X
Substitution    4    163            A1            Heavy chain       X


                                    Page 105
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   16   1805            A3            Light chain       X
Substitution   16   1815            A3            Light chain       X
Substitution   16   1815            A3            Light chain           X
Substitution   16   1822            A3            Light chain
Substitution   16   1823            A3            Light chain       X   X
Substitution   16   1824            A3            Light chain           X
Substitution   16   1824            A3            Light chain           X
Substitution   16   1825            A3            Light chain           X
Substitution   16   1825            A3            Light chain           X
Substitution   16   1825            A3            Light chain
Substitution   16   1826            A3            Light chain
Substitution    4    166            A1            Heavy chain       X
Substitution   16   1828            A3            Light chain   X
Substitution   16   1829            A3            Light chain   X
Substitution   16   1829            A3            Light chain       X
Substitution   16   1829            A3            Light chain
Substitution   16   1829            A3            Light chain           X
Substitution   16   1829            A3            Light chain           X
Substitution   16   1830            A3            Light chain
Substitution    4    166            A1            Heavy chain           X
Substitution   16   1832            A3            Light chain   X
Substitution   16   1833            A3            Light chain   X
Substitution   16   1834            A3            Light chain       X   X
Substitution   16   1834            A3            Light chain           X
Substitution    4    166            A1            Heavy chain
Substitution   16   1835            A3            Light chain
Substitution   16   1835            A3            Light chain   X
Substitution   16   1836            A3            Light chain
Substitution   16   1837            A3            Light chain       X
Substitution   16   1837            A3            Light chain   X
Substitution    4    167            A1            Heavy chain
Substitution    4    167            A1            Heavy chain   X


                                    Page 106
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    4    167            A1            Heavy chain   X   X
Substitution   16   1839            A3            Light chain   X
Substitution   16   1839            A3            Light chain           X
Substitution   16   1840            A3            Light chain       X
Substitution    4    167            A1            Heavy chain
Substitution   17   1844            A3            Light chain           X
Substitution    4    167            A1            Heavy chain
Substitution   17   1845            A3            Light chain           X
Substitution   17   1846            A3            Light chain   X
Substitution   17   1846            A3            Light chain   X
Substitution   17   1846            A3            Light chain   X
Substitution   17   1846            A3            Light chain   X
Substitution   17   1848            A3            Light chain
Substitution   17   1848            A3            Light chain       X
Substitution   17   1849            A3            Light chain   X
Substitution   17   1849            A3            Light chain
Substitution   17   1850            A3            Light chain   X
Substitution   17   1850            A3            Light chain   X   X
Substitution   17   1853            A3            Light chain   X
Substitution   17   1853            A3            Light chain   X
Substitution   17   1854            A3            Light chain   X
Substitution   17   1854            A3            Light chain       X   X
Substitution   17   1856            A3            Light chain   X
Substitution   17   1857            A3            Light chain           X
Substitution   17   1857            A3            Light chain           X
Substitution   17   1858            A3            Light chain   X
Substitution   17   1858            A3            Light chain   X
Substitution   17   1863            A3            Light chain   X
Substitution   17   1869            A3            Light chain   X   X   X
Substitution   17   1870            A3            Light chain           X
Substitution    4    170            A1            Heavy chain       X
Substitution   17   1873            A3            Light chain           X


                                    Page 107
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   17   1875            A3            Light chain   X
Substitution   17   1875            A3            Light chain       X
Substitution   17   1877            A3            Light chain   X
Substitution    4    171            A1            Heavy chain   X
Substitution    4    171            A1            Heavy chain   X
Substitution   17   1882            A3            Light chain           X
Substitution   17   1885            A3            Light chain   X
Substitution   17   1885            A3            Light chain   X
Substitution   17   1885            A3            Light chain   X
Substitution   17   1888            A3            Light chain   X   X
Substitution   17   1888            A3            Light chain   X
Substitution   17   1888            A3            Light chain       X
Substitution   17   1889            A3            Light chain
Substitution   17   1890            A3            Light chain       X
Substitution   17   1894            A3            Light chain           X
Substitution   17   1894            A3            Light chain           X
Substitution    4    173            A1            Heavy chain           X
Substitution    4    174            A1            Heavy chain   X
Substitution    4    174            A1            Heavy chain
Substitution    1     -1          Signal                        X
Substitution    4    175            A1            Heavy chain           X
Substitution   17   1918            A3            Light chain
Substitution   17   1919            A3            Light chain           X
Substitution   17   1919            A3            Light chain           X
Substitution   18   1920            A3            Light chain   X
Substitution   18   1920            A3            Light chain   X
Substitution   18   1921            A3            Light chain           X
Substitution   18   1922            A3            Light chain   X
Substitution   18   1922            A3            Light chain
Substitution   18   1922            A3            Light chain       X
Substitution   18   1922            A3            Light chain   X
Substitution   18   1923            A3            Light chain


                                    Page 108
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   18   1923            A3            Light chain   X
Substitution   18   1923            A3            Light chain       X   X
Substitution   18   1923            A3            Light chain       X
Substitution   18   1924            A3            Light chain           X
Substitution   18   1926            A3            Light chain
Substitution   18   1927            A3            Light chain
Substitution   18   1929            A3            Light chain       X
Substitution   18   1929            A3            Light chain   X
Substitution    4    176            A1            Heavy chain
Substitution    4    176            A1            Heavy chain
Substitution   18   1932            A3            Light chain       X
Substitution   18   1932            A3            Light chain           X
Substitution   18   1941            A3            Light chain       X   X
Substitution   18   1941            A3            Light chain           X
Substitution   18   1942            A3            Light chain   X
Substitution   18   1942            A3            Light chain   X
Substitution   18   1943            A3            Light chain       X
Substitution   18   1943            A3            Light chain           X
Substitution   18   1944            A3            Light chain   X
Substitution   18   1946            A3            Light chain   X
Substitution   18   1947            A3            Light chain           X
Substitution   18   1947            A3            Light chain           X
Substitution   18   1948            A3            Light chain           X
Substitution    4    178            A1            Heavy chain           X
Substitution   18   1948            A3            Light chain           X
Substitution   18   1949            A3            Light chain           X
Substitution    4    178            A1            Heavy chain   X   X   X
Substitution   18   1952            A3            Light chain
Substitution   18   1954            A3            Light chain
Substitution   18   1954            A3            Light chain           X
Substitution   18   1956            A3            Light chain   X
Substitution   18   1956            A3            Light chain           X


                                    Page 109
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   18   1957            A3            Light chain
Substitution    4    179            A1            Heavy chain
Substitution    4    179            A1            Heavy chain   X
Substitution   18   1959            A3            Light chain           X
Substitution   18   1959            A3            Light chain   X
Substitution   18   1960            A3            Light chain           X
Substitution   18   1960            A3            Light chain           X
Substitution   18   1961            A3            Light chain
Substitution   18   1961            A3            Light chain           X
Substitution   18   1961            A3            Light chain       X
Substitution   18   1961            A3            Light chain           X
Substitution   18   1962            A3            Light chain
Substitution   18   1962            A3            Light chain       X
Substitution   18   1963            A3            Light chain           X
Substitution   18   1963            A3            Light chain           X
Substitution   18   1966            A3            Light chain       X   X
Substitution   18   1967            A3            Light chain           X
Substitution   18   1973            A3            Light chain           X
Substitution   18   1975            A3            Light chain       X
Substitution   18   1978            A3            Light chain       X
Substitution   18   1979            A3            Light chain           X
Substitution   18   1979            A3            Light chain
Substitution   18   1980            A3            Light chain           X
Substitution   18   1981            A3            Light chain
Substitution   19   1981            A3            Light chain   X
Substitution   19   1981            A3            Light chain   X
Substitution   19   1981            A3            Light chain   X
Substitution    4    181            A1            Heavy chain           X
Substitution   19   1985            A3            Light chain       X
Substitution   19   1986            A3            Light chain       X
Substitution   19   1987            A3            Light chain           X
Substitution    4    182            A1            Heavy chain           X


                                    Page 110
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    4    182            A1            Heavy chain       X
Substitution   19   1988            A3            Light chain           X
Substitution    5    182            A1            Heavy chain
Substitution   19   1994            A3            Light chain   X
Substitution   19   1996            A3            Light chain   X
Substitution   19   1996            A3            Light chain
Substitution   19   1996            A3            Light chain       X
Substitution   19   1997            A3            Light chain       X
Substitution   19   1997            A3            Light chain   X   X
Substitution   19   1997            A3            Light chain           X
Substitution   19   1997            A3            Light chain   X
Substitution   19   1998            A3            Light chain           X
Substitution   19   1999            A3            Light chain       X
Substitution    5    183            A1            Heavy chain
Substitution   19   2003            A3            Light chain   X
Substitution   19   2004            A3            Light chain           X
Substitution    5    183            A1            Heavy chain           X
Substitution   19   2009            A3            Light chain           X
Substitution   19   2010            A3            Light chain           X
Substitution   19   2010            A3            Light chain           X
Substitution   19   2011            A3            Light chain           X
Substitution    5    184            A1            Heavy chain       X
Substitution   19   2012            A3            Light chain
Substitution   19   2016            A3            Light chain           X
Substitution   19   2016            A3            Light chain
Substitution   19   2017            A3            Light chain       X
Substitution   19   2019            A3            Light chain       X   X
Substitution   20   2021            A3            Light chain           X
Substitution   20   2021            A3            Light chain       X   X
Substitution   20   2025            C1            Light chain
Substitution   20   2026            C1            Light chain   X   X
Substitution   20   2026            C1            Light chain           X


                                    Page 111
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   20   2026            C1            Light chain   X
Substitution   20   2028            C1            Light chain   X
Substitution   20   2032            C1            Light chain
Substitution   20   2032            C1            Light chain
Substitution   20   2032            C1            Light chain   X
Substitution   20   2037            C1            Light chain       X
Substitution   20   2039            C1            Light chain   X   X
Substitution   20   2041            C1            Light chain           X
Substitution   21   2046            C1            Light chain
Substitution   21   2047            C1            Light chain           X
Substitution   21   2048            C1            Light chain   X
Substitution   21   2051            C1            Light chain           X
Substitution   21   2051            C1            Light chain
Substitution   21   2052            C1            Light chain   X
Substitution   21   2053            C1            Light chain           X
Substitution   21   2061            C1            Light chain       X
Substitution   21   2061            C1            Light chain
Substitution   21   2061            C1            Light chain       X
Substitution   21   2062            C1            Light chain   X
Substitution   21   2062            C1            Light chain   X
Substitution   21   2063            C1            Light chain       X
Substitution   21   2069            C1            Light chain   X
Substitution   21   2070            C1            Light chain   X
Substitution   21   2070            C1            Light chain
Substitution   21   2071            C1            Light chain           X
Substitution   21   2071            C1            Light chain       X
Substitution   22   2073            C1            Light chain           X
Substitution   22   2074            C1            Light chain       X
Substitution   22   2074            C1            Light chain       X   X
Substitution   22   2082            C1            Light chain
Substitution   22   2086            C1            Light chain       X
Substitution   22   2086            C1            Light chain           X


                                    Page 112
                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   22        2087            C1            Light chain           X
Substitution   22        2087            C1            Light chain
Substitution   22        2087            C1            Light chain           X
Substitution   22        2088            C1            Light chain       X
Substitution   22        2088            C1            Light chain
Substitution   22        2090            C1            Light chain           X
Substitution   22        2096            C1            Light chain           X
Substitution   22        2098            C1            Light chain       X
Substitution   22        2098            C1            Light chain       X   X
Substitution   22        2099            C1            Light chain
Substitution   22        2100            C1            Light chain   X
Substitution   22        2100            C1            Light chain   X   X   X
Substitution   22        2101            C1            Light chain           X
Substitution   22        2101            C1            Light chain           X
Substitution   22        2105            C1            Light chain   X   X   X
Substitution   22        2106            C1            Light chain
Substitution   22        2116            C1            Light chain           X
Substitution   22        2116            C1            Light chain   X
Substitution   22        2117            C1            Light chain   X
Substitution   22        2117            C1            Light chain
Substitution    5         195            A1            Heavy chain           X
Substitution   22        2119            C1            Light chain       X   X
Substitution   22        2119            C1            Light chain           X
Substitution        22   2121            C1            Light chain
Substitution    5         195            A1            Heavy chain       X
Substitution   22        2122            C1            Light chain   X
Substitution   22        2124            C1            Light chain
Substitution   22        2124            C1            Light chain           X
Substitution    5         195            A1            Heavy chain
Substitution   23        2126            C1            Light chain           X
Substitution   23        2126            C1            Light chain       X
Substitution   23        2127            C1            Light chain           X


                                         Page 113
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   23   2128            C1            Light chain           X
Substitution   23   2128            C1            Light chain       X
Substitution   23   2129            C1            Light chain   X
Substitution   23   2129            C1            Light chain       X   X
Substitution   23   2131            C1            Light chain   X
Substitution   23   2133            C1            Light chain           X
Substitution    5    196            A1            Heavy chain
Substitution   23   2136            C1            Light chain           X
Substitution   23   2138            C1            Light chain
Substitution    5    197            A1            Heavy chain       X
Substitution   23   2142            C1            Light chain           X
Substitution   23   2142            C1            Light chain   X   X
Substitution   23   2143            C1            Light chain   X   X
Substitution   23   2145            C1            Light chain   X
Substitution   23   2146            C1            Light chain           X
Substitution   23   2147            C1            Light chain           X
Substitution   23   2147            C1            Light chain       X
Substitution    1     3             A1            Heavy chain   X
Substitution   23   2150            C1            Light chain           X
Substitution   23   2150            C1            Light chain   X   X   X
Substitution   23   2150            C1            Light chain           X
Substitution    5    198            A1            Heavy chain       X
Substitution    5    198            A1            Heavy chain
Substitution    5    198            A1            Heavy chain   X
Substitution   23   2153            C1            Light chain       X
Substitution   23   2153            C1            Light chain
Substitution   23   2154            C1            Light chain
Substitution   23   2154            C1            Light chain           X
Substitution   23   2154            C1            Light chain           X
Substitution   23   2155            C1            Light chain       X   X
Substitution   23   2155            C1            Light chain           X
Substitution   23   2157            C1            Light chain


                                    Page 114
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   23   2159            C1            Light chain       X   X
Substitution   23   2159            C1            Light chain           X
Substitution   23   2159            C1            Light chain           X
Substitution   23   2160            C1            Light chain       X
Substitution   23   2162            C1            Light chain   X
Substitution   23   2163            C1            Light chain   X
Substitution   23   2163            C1            Light chain   X   X
Substitution   23   2163            C1            Light chain   X   X   X
Substitution   23   2163            C1            Light chain   X
Substitution   23   2164            C1            Light chain           X
Substitution   23   2164            C1            Light chain       X
Substitution   23   2165            C1            Light chain       X
Substitution   23   2165            C1            Light chain
Substitution   23   2166            C1            Light chain   X
Substitution   23   2166            C1            Light chain           X
Substitution   23   2167            C1            Light chain           X
Substitution    5    200            A1            Heavy chain           X
Substitution    5    200            A1            Heavy chain   X
Substitution   23   2169            C1            Light chain   X
Substitution    5    200            A1            Heavy chain
Substitution   24   2173            C2            Light chain           X
Substitution   24   2174            C2            Light chain           X
Substitution   24   2174            C2            Light chain   X
Substitution    5    201            A1            Heavy chain           X
Substitution   24   2179            C2            Light chain
Substitution   24   2179            C2            Light chain
Substitution   24   2179            C2            Light chain   X   X
Substitution    5    201            A1            Heavy chain           X
Substitution    1     3             A1            Heavy chain       X
Substitution    1     3             A1            Heavy chain           X
Substitution   24   2181            C2            Light chain           X
Substitution   24   2182            C2            Light chain           X


                                    Page 115
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   24   2185            C2            Light chain   X
Substitution   24   2185            C2            Light chain           X
Substitution   24   2189            C2            Light chain           X
Substitution   24   2189            C2            Light chain       X
Substitution   24   2189            C2            Light chain           X
Substitution   24   2190            C2            Light chain       X
Substitution   24   2192            C2            Light chain       X
Substitution   24   2194            C2            Light chain
Substitution   24   2194            C2            Light chain   X
Substitution   24   2194            C2            Light chain   X
Substitution   24   2194            C2            Light chain   X
Substitution   24   2199            C2            Light chain
Substitution   24   2201            C2            Light chain           X
Substitution    5    203            A1            Heavy chain   X
Substitution    5    203            A1            Heavy chain       X
Substitution   24   2205            C2            Light chain   X
Substitution    5    204            A1            Heavy chain   X
Substitution   24   2208            C2            Light chain           X
Substitution   24   2209            C2            Light chain   X   X
Substitution   24   2209            C2            Light chain   X   X   X
Substitution   24   2209            C2            Light chain
Substitution   24   2209            C2            Light chain       X
Substitution   24   2210            C2            Light chain           X
Substitution   24   2210            C2            Light chain           X
Substitution    5    204            A1            Heavy chain
Substitution   24   2218            C2            Light chain           X
Substitution    5    205            A1            Heavy chain       X
Substitution   24   2219            C2            Light chain   X
Substitution   25   2223            C2            Light chain
Substitution   25   2228            C2            Light chain
Substitution   25   2229            C2            Light chain
Substitution   25   2229            C2            Light chain       X


                                    Page 116
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   25   2229            C2            Light chain       X   X
Substitution   25   2230            C2            Light chain
Substitution   25   2230            C2            Light chain   X
Substitution   25   2231            C2            Light chain           X
Substitution   25   2232            C2            Light chain   X
Substitution   25   2232            C2            Light chain           X
Substitution   25   2232            C2            Light chain           X
Substitution   25   2234            C2            Light chain       X
Substitution    6    207            A1            Heavy chain   X
Substitution   25   2239            C2            Light chain           X
Substitution   25   2240            C2            Light chain
Substitution    6    207            A1            Heavy chain   X       X
Substitution   25   2243            C2            Light chain
Substitution   25   2245            C2            Light chain           X
Substitution   25   2246            C2            Light chain           X
Substitution   25   2246            C2            Light chain       X
Substitution   25   2247            C2            Light chain   X
Substitution   25   2247            C2            Light chain   X
Substitution   25   2247            C2            Light chain   X
Substitution    6    208            A1            Heavy chain
Substitution    1     4             A1            Heavy chain       X   X
Substitution   25   2253            C2            Light chain
Substitution   25   2253            C2            Light chain       X
Substitution   25   2255            C2            Light chain
Substitution   25   2257            C2            Light chain   X
Substitution   25   2260            C2            Light chain       X
Substitution   25   2260            C2            Light chain   X
Substitution   25   2260            C2            Light chain
Substitution   25   2261            C2            Light chain   X
Substitution    6    209            A1            Heavy chain       X
Substitution   25   2262            C2            Light chain
Substitution   25   2265            C2            Light chain           X


                                    Page 117
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   25   2267            C2            Light chain
Substitution   25   2271            C2            Light chain       X
Substitution   26   2283            C2            Light chain       X
Substitution   26   2285            C2            Light chain       X
Substitution   26   2285            C2            Light chain       X
Substitution   26   2285            C2            Light chain           X
Substitution   26   2286            C2            Light chain       X   X
Substitution   26   2288            C2            Light chain       X   X
Substitution   26   2291            C2            Light chain           X
Substitution   26   2292            C2            Light chain           X
Substitution   26   2295            C2            Light chain           X
Substitution   26   2297            C2            Light chain   X
Substitution   26   2300            C2            Light chain           X
Substitution   26   2300            C2            Light chain
Substitution   26   2300            C2            Light chain       X   X
Substitution   26   2301            C2            Light chain   X
Substitution   26   2304            C2            Light chain   X       X
Substitution   26   2304            C2            Light chain   X   X
Substitution   26   2304            C2            Light chain           X
Substitution   26   2304            C2            Light chain       X
Substitution   26   2305            C2            Light chain           X
Substitution   26   2307            C2            Light chain       X
Substitution   26   2307            C2            Light chain   X   X   X
Substitution   26   2307            C2            Light chain   X
Substitution   26   2307            C2            Light chain   X   X
Substitution   26   2309            C2            Light chain
Substitution   26   2310            C2            Light chain   X
Substitution   26   2311            C2            Light chain   X
Substitution   26   2313            C2            Light chain   X   X
Substitution   26   2313            C2            Light chain
Substitution   26   2313            C2            Light chain
Substitution   26   2317            C2            Light chain


                                    Page 118
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   26   2320            C2            Light chain   X
Substitution   26   2320            C2            Light chain       X
Substitution   26   2320            C2            Light chain           X
Substitution   26   2322            C2            Light chain   X
Substitution   26   2324            C2            Light chain
Substitution   26   2325            C2            Light chain
Substitution   26   2325            C2            Light chain   X
Substitution   26   2325            C2            Light chain       X
Substitution   26   2325            C2            Light chain   X
Substitution   26   2325            C2            Light chain           X
Substitution   26   2326            C2            Light chain
Substitution   26   2326            C2            Light chain   X
Substitution   26   2326            C2            Light chain   X
Substitution   26   2326            C2            Light chain   X
Substitution    1     5             A1            Heavy chain   X
Substitution    1     5             A1            Heavy chain           X
Substitution    6    224            A1            Heavy chain           X
Substitution    6    233            A1            Heavy chain   X
Substitution    6    233            A1            Heavy chain       X   X
Substitution    6    234            A1            Heavy chain   X
Substitution    6    234            A1            Heavy chain       X
Substitution    6    234            A1            Heavy chain
Substitution    6    235            A1            Heavy chain   X
Substitution    6    235            A1            Heavy chain       X
Substitution    6    235            A1            Heavy chain   X
Substitution    6    235            A1            Heavy chain   X
Substitution    6    235            A1            Heavy chain   X
Substitution    6    236            A1            Heavy chain   X
Substitution    6    236            A1            Heavy chain
Substitution    6    236            A1            Heavy chain   X   X
Substitution    6    236            A1            Heavy chain   X
Substitution    6    237            A1            Heavy chain           X


                                    Page 119
                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   6   240             A1            Heavy chain   X
Substitution   6   240             A1            Heavy chain
Substitution   6   240             A1            Heavy chain           X
Substitution   6   241             A1            Heavy chain   X
Substitution   1    7              A1            Heavy chain
Substitution   1    7              A1            Heavy chain   X
Substitution   6   242             A1            Heavy chain
Substitution   6   243             A1            Heavy chain   X   X
Substitution   6   244             A1            Heavy chain
Substitution   6   244             A1            Heavy chain   X
Substitution   7   244             A1            Heavy chain           X
Substitution   7   245             A1            Heavy chain   X
Substitution   7   247             A1            Heavy chain
Substitution   7   248             A1            Heavy chain       X
Substitution   7   255             A1            Heavy chain   X   X
Substitution   7   255             A1            Heavy chain       X
Substitution   7   256             A1            Heavy chain   X
Substitution   7   256             A1            Heavy chain
Substitution   7   257             A1            Heavy chain
Substitution   7   258             A1            Heavy chain           X
Substitution   7   259             A1            Heavy chain   X
Substitution   7   260             A1            Heavy chain   X
Substitution   7   261             A1            Heavy chain           X
Substitution   7   261             A1            Heavy chain
Substitution   7   262             A1            Heavy chain           X
Substitution   7   262             A1            Heavy chain           X
Substitution   7   262             A1            Heavy chain           X
Substitution   7   265             A1            Heavy chain       X
Substitution   7   266             A1            Heavy chain
Substitution   7   266             A1            Heavy chain
Substitution   7   267             A1            Heavy chain
Substitution   7   267             A1            Heavy chain       X


                                   Page 120
                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   1   10              A1            Heavy chain   X
Substitution   7   272             A1            Heavy chain       X   X
Substitution   7   272             A1            Heavy chain       X
Substitution   7   274             A1            Heavy chain
Substitution   7   275             A1            Heavy chain       X
Substitution   7   276             A1            Heavy chain   X
Substitution   7   276             A1            Heavy chain   X
Substitution   7   277             A1            Heavy chain   X
Substitution   7   278             A1            Heavy chain
Substitution   1   11              A1            Heavy chain       X
Substitution   7   278             A1            Heavy chain           X
Substitution   7   278             A1            Heavy chain   X
Substitution   7   280             A1            Heavy chain           X
Substitution   7   281             A1            Heavy chain       X
Substitution   7   281             A1            Heavy chain       X
Substitution   7   281             A1            Heavy chain   X
Substitution   1   11              A1            Heavy chain
Substitution   7   282             A1            Heavy chain       X
Substitution   7   282             A1            Heavy chain   X   X
Substitution   7   282             A1            Heavy chain   X   X   X
Substitution   7   282             A1            Heavy chain       X
Substitution   7   282             A1            Heavy chain   X       X
Substitution   7   284             A1            Heavy chain           X
Substitution   7   284             A1            Heavy chain           X
Substitution   7   286             A1            Heavy chain   X
Substitution   7   288             A1            Heavy chain       X
Substitution   7   289             A1            Heavy chain   X       X
Substitution   7   293             A1            Heavy chain           X
Substitution   7   294             A1            Heavy chain   X
Substitution   7   295             A1            Heavy chain           X
Substitution   7   295             A1            Heavy chain           X
Substitution   7   295             A1            Heavy chain       X


                                   Page 121
                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   7   296             A1            Heavy chain           X
Substitution   7   299             A1            Heavy chain           X
Substitution   7   304             A1            Heavy chain   X
Substitution   7   304             A1            Heavy chain   X
Substitution   7   305             A1            Heavy chain           X
Substitution   7   307             A1            Heavy chain       X
Substitution   7   308             A1            Heavy chain           X
Substitution   1   14              A1            Heavy chain       X
Substitution   7   308             A1            Heavy chain   X
Substitution   7   308             A1            Heavy chain
Substitution   7   309             A1            Heavy chain           X
Substitution   7   310             A1            Heavy chain       X
Substitution   7   310             A1            Heavy chain   X
Substitution   7   310             A1            Heavy chain   X
Substitution   7   310             A1            Heavy chain   X
Substitution   7   311             A1            Heavy chain       X
Substitution   7   312             A1            Heavy chain           X
Substitution   7   316             A1            Heavy chain   X
Substitution   8   323             A1            Heavy chain   X
Substitution   8   325             A1            Heavy chain   X
Substitution   8   336             A1            Heavy chain   X   X
Substitution   8   373             a1            Heavy chain   X
Substitution   8   373             a1            Heavy chain   X
Substitution   8   382             A2            Heavy chain   X
Substitution   8   382             A2            Heavy chain   X
Substitution   8   393             A2            Heavy chain
Substitution   8   393             A2            Heavy chain       X
Substitution   9   410             A2            Heavy chain
Substitution   9   427             A2            Heavy chain   X
Substitution   9   434             A2            Heavy chain   X
Substitution   9   446             A2            Heavy chain   X
Substitution   9   454             A2            Heavy chain   X


                                   Page 122
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   10   476             A2            Heavy chain   X
Substitution   10   488             A2            Heavy chain   X
Substitution   10   491             A2            Heavy chain   X
Substitution   11   513             A2            Heavy chain   X
Substitution   11   524             A2            Heavy chain   X
Substitution   11   532             A2            Heavy chain   X
Substitution   11   533             A2            Heavy chain   X
Substitution   11   540             A2            Heavy chain   X
Substitution   11   557             A2            Heavy chain   X
Substitution   11   561             A2            Heavy chain
Substitution   12   568             A2            Heavy chain
Substitution   12   581             A2            Heavy chain   X
Substitution   12   583             A2            Heavy chain   X   X
Substitution   12   585             A2            Heavy chain
Substitution   12   586             A2            Heavy chain   X
Substitution   12   586             A2            Heavy chain   X
Substitution   12   592             A2            Heavy chain   X
Substitution    2   43              A1            Heavy chain   X
Substitution   12   602             A2            Heavy chain   X
Substitution   13   620             A2            Heavy chain   X
Substitution   13   626             A2            Heavy chain   X
Substitution    2   46              A1            Heavy chain   X
Substitution   13   636             A2            Heavy chain   X
Substitution    2   48              A1            Heavy chain   X
Substitution   13   655             A2            Heavy chain   X
Substitution   13   659             A2            Heavy chain   X
Substitution   13   674             A2            Heavy chain
Substitution   13   681             A2            Heavy chain   X
Substitution   14   688             A2            Heavy chain   X
Substitution   14   688             A2            Heavy chain   X
Substitution   14   719             a2            Heavy chain       X
Substitution   14   720             a2            Heavy chain   X


                                    Page 123
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   14    729            a2            Heavy chain   X
Substitution   14    730            a2            Heavy chain   X
Substitution   14    753            B                           X
Substitution   14    755            B                           X
Substitution   14    772            B
Substitution   14    772            B                           X   X
Substitution   14    795            B                           X   X
Substitution   14    796            B                           X
Substitution   14    809            B
Substitution   14    810            B
Substitution   14    813            B
Substitution   14    853            B
Substitution    2    68             A1            Heavy chain   X
Substitution   14    859            B                           X
Substitution   14    861            B                           X
Substitution   14    882            B                           X
Substitution   14    882            B                           X
Substitution   14    905            B                               X
Substitution   14    946            B
Substitution   14    952            B                           X
Substitution   14    959            B                           X
Substitution   14    960            B                           X
Substitution   14    960            B                           X
Substitution   14    966            B                           X
Substitution   14    974            B                           X
Substitution    3    81             A1            Heavy chain   X
Substitution   14    992            B                           X
Substitution   14    998            B                           X
Substitution   14   1019            B
Substitution   14   1029            B                           X   X
Substitution   14   1029            B                           X
Substitution   14   1040            B                           X


                                    Page 124
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   14   1065             B                          X
Substitution   14   1078             B                          X
Substitution   14   1079             B
Substitution   14   1081             B
Substitution   14   1082             B
Substitution   14   1090             B                          X
Substitution   14   1105             B                          X
Substitution   14   1108             B                          X
Substitution   14   1122             B                          X
Substitution   14   1141             B                              X
Substitution   14   1146             B                          X
Substitution   14   1147             B                          X
Substitution   14   1184             B                          X
Substitution   14   1192             B
Substitution   14   1197             B                          X
Substitution   14   1204             B                          X
Substitution    1    -8           Signal                        X
Substitution   14   1237             B
Substitution   14   1249             B                          X
Substitution   14   1257             B
Substitution   14   1263             B                          X
Substitution   14   1270             B
Substitution   14   1271             B
Substitution   14   1283             B                          X
Substitution   14   1286             B                          X
Substitution   14   1289             B                          X
Substitution   14   1303             B                          X
Substitution   14   1304             B                          X
Substitution   14   1309             B                          X
Substitution   14   1317             B                          X
Substitution   14   1328             B                          X
Substitution   14   1337             B


                                    Page 125
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    4    117            A1            Heavy chain   X
Substitution   14   1339             B                          X
Substitution   14   1340             B                          X
Substitution   14   1340             B
Substitution   14   1367             B
Substitution    4    120            A1            Heavy chain   X
Substitution   14   1382             B                          X
Substitution    4    122            A1            Heavy chain   X
Substitution   14   1395             B                          X
Substitution   14   1430             B                          X
Substitution   14   1435             B                          X
Substitution    4    127            A1            Heavy chain
Substitution    1     -5          Signal                        X   X
Substitution   14   1451             B                          X
Substitution   14   1456             B                          X
Substitution   14   1472             B                          X
Substitution   14   1472             B                          X
Substitution   14   1473             B
Substitution   14   1476             B
Substitution   14   1493             B                              X
Substitution   14   1502             B                          X
Substitution   14   1503             B                          X
Substitution   14   1535             B                          X
Substitution    4    138            A1            Heavy chain   X
Substitution    4    139            A1            Heavy chain   X
Substitution   14   1567             B                          X
Substitution   14   1567             B                              X
Substitution   14   1571             B                          X
Substitution   14   1578             B                          X
Substitution   14   1580             B                          X   X
Substitution   14   1580             B                          X
Substitution   14   1581             B                          X


                                    Page 126
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   14   1586            B                               X
Substitution   14   1595            B                           X
Substitution   14   1615            B                           X
Substitution   14   1617            B                           X
Substitution   14   1621            B                           X
Substitution   14   1626            B                           X
Substitution   14   1626            B                           X
Substitution   14   1629            B                               X
Substitution   14   1644            B                           X
Substitution   14   1689            a3            Light chain   X   X   X
Substitution   14   1689            a3            Light chain           X
Substitution   14   1689            a3            Light chain       X
Substitution   14   1696            A3            Light chain   X
Substitution    4    153            A1            Heavy chain   X
Substitution   14   1707            A3            Light chain   X
Substitution   14   1707            A3            Light chain
Substitution   14   1709            A3            Light chain   X
Substitution   14   1720            A3            Light chain           X
Substitution   15   1732            A3            Light chain
Substitution    4    156            A1            Heavy chain   X
Substitution   15   1748            A3            Light chain   X
Substitution   15   1748            A3            Light chain   X
Substitution   15   1754            A3            Light chain   X
Substitution   15   1762            A3            Light chain   X
Substitution   16   1778            A3            Light chain   X
Substitution   16   1783            A3            Light chain
Substitution   16   1786            A3            Light chain   X
Substitution   16   1792            A3            Light chain   X
Substitution   16   1793            A3            Light chain   X
Substitution   16   1796            A3            Light chain   X
Substitution   16   1799            A3            Light chain   X
Substitution   16   1817            A3            Light chain   X


                                    Page 127
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   16   1817            A3            Light chain   X
Substitution   16   1820            A3            Light chain
Substitution   16   1827            A3            Light chain   X   X
Substitution   16   1832            A3            Light chain   X
Substitution   16   1835            A3            Light chain   X
Substitution   16   1837            A3            Light chain   X
Substitution    4    168            A1            Heavy chain   X
Substitution   17   1869            A3            Light chain
Substitution   17   1870            A3            Light chain   X
Substitution   17   1874            A3            Light chain   X
Substitution   17   1896            A3            Light chain   X
Substitution   17   1903            A3            Light chain   X
Substitution   17   1916            A3            Light chain
Substitution   18   1938            A3            Light chain   X
Substitution   18   1941            A3            Light chain   X   X
Substitution   18   1942            A3            Light chain   X
Substitution   18   1966            A3            Light chain   X   X
Substitution    4    180            A1            Heavy chain   X
Substitution   18   1976            A3            Light chain   X
Substitution   19   1987            A3            Light chain   X
Substitution   20   2021            A3            Light chain       X
Substitution   20   2026            C1            Light chain
Substitution   20   2036            C1            Light chain   X
Substitution   21   2046            C1            Light chain   X
Substitution   21   2057            C1            Light chain   X
Substitution   21   2058            C1            Light chain   X
Substitution   21   2062            C1            Light chain   X
Substitution   21   2065            C1            Light chain   X
Substitution   21   2066            C1            Light chain   X
Substitution    5    190            A1            Heavy chain   X
Substitution   21   2070            C1            Light chain   X
Substitution   22   2085            C1            Light chain


                                    Page 128
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   22   2087            C1            Light chain   X
Substitution   22   2110            C1            Light chain   X
Substitution   22   2112            C1            Light chain   X
Substitution   22   2113            C1            Light chain
Substitution   22   2116            C1            Light chain   X   X
Substitution   22   2121            C1            Light chain   X
Substitution   22   2123            C1            Light chain
Substitution   23   2147            C1            Light chain   X   X
Substitution   23   2165            C1            Light chain   X
Substitution   24   2178            C2            Light chain   X
Substitution   24   2203            C2            Light chain   X
Substitution   24   2203            C2            Light chain   X
Substitution   24   2206            C2            Light chain   X
Substitution   24   2209            C2            Light chain   X   X
Substitution   24   2213            C2            Light chain       X
Substitution   24   2219            C2            Light chain   X
Substitution   24   2222            C2            Light chain       X
Substitution   25   2227            C2            Light chain   X
Substitution   25   2228            C2            Light chain   X
Substitution   25   2229            C2            Light chain   X
Substitution   25   2231            C2            Light chain   X
Substitution   25   2235            C2            Light chain   X
Substitution    6    208            A1            Heavy chain       X
Substitution   25   2256            C2            Light chain   X
Substitution   25   2270            C2            Light chain   X
Substitution    6    210            A1            Heavy chain
Substitution   25   2271            C2            Light chain
Substitution   26   2284            C2            Light chain
Substitution   26   2307            C2            Light chain   X
Substitution   26   2313            C2            Light chain       X
Substitution   26   2313            C2            Light chain   X
Substitution   26   2316            C2            Light chain   X


                                    Page 129
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution            26      2322            C2            Light chain   X
Substitution            26      2326            C2            Light chain   X
Substitution             6       218            A1            Heavy chain
Substitution             6       228            A1            Heavy chain   X
Substitution             1        6             A1            Heavy chain   X
Substitution             7       247            A1            Heavy chain   X
Substitution             7       255            A1            Heavy chain
Substitution             7       255            A1            Heavy chain
Substitution             7       265            A1            Heavy chain   X
Substitution             7       272            A1            Heavy chain   X
Substitution             7       283            A1            Heavy chain   X
Substitution             1       14             A1            Heavy chain   X
Substitution             1       -57          Signal                                X
Substitution             1       -61          Signal
Substitution             1       -28          Signal
Substitution         Promoter                                                       X
Substitution         Promoter                                                       X
Deletion                 8      339             a1            Heavy chain
Deletion                 8      391             A2            Heavy chain   X
Insertion/deletion       9      445             A2            Heavy chain   X
Insertion               10      469             A2            Heavy chain
Insertion               10      472             A2            Heavy chain
Insertion               10      482             A2            Heavy chain
                                                                                    X
Insertion/deletion     11       503             A2            Heavy chain   X
Insertion/deletion     11       517             A2            Heavy chain
                                                                            X
Deletion               11       523             A2            Heavy chain
Deletion               12       592             A2            Heavy chain   X
Duplication            12       613             A2            Heavy chain   X
Deletion               13       653             A2            Heavy chain       X
Deletion               13       653             A2            Heavy chain   X   X


                                                Page 130
                          1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion              2    49             A1            Heavy chain   X
Deletion             13    660            A2            Heavy chain
Insertion/deletion   13    674            A2            Heavy chain
Deletion              2    65             A1            Heavy chain   X
Deletion              2    67             A1            Heavy chain       X
Deletion              3    78             A1            Heavy chain
Deletion             14   1392            B                           X
Insertion             4    126            A1            Heavy chain   X
Duplication           4    128            A1            Heavy chain       X
Deletion             14   1696            A3            Light chain       X
Deletion             15   1746            A3            Light chain           X
Deletion             15   1771            A3            Light chain           X
Deletion             16   1806            A3            Light chain
Insertion/deletion    4    167            A1            Heavy chain   X
Insertion/deletion   17   1862            A3            Light chain           X
Insertion/deletion    4    171            A1            Heavy chain       X
Insertion/deletion   17   1889            A3            Light chain
                                                                          X
Deletion             18   1935            A3            Light chain   X
Deletion              4    178            A1            Heavy chain   X
Deletion             18   1970            A3            Light chain           X
Deletion             19   1988            A3            Light chain   X
Deletion             22   2081            C1            Light chain   X
Deletion             22   2088            C1            Light chain   X
Duplication          23   2154            C1            Light chain   X
Deletion             24   2201            C2            Light chain           X
Deletion             24   2205            C2            Light chain   X
Deletion              5    204            A1            Heavy chain
Insertion/deletion    6    207            A1            Heavy chain
Deletion             25   2242            C2            Light chain   X
Insertion            25   2243            C2            Light chain       X
Insertion            25   2279            C2            Light chain


                                          Page 131
                               1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion           26           2305           C2            Light chain   X
Deletion            7            301           A1            Heavy chain   X
Substitution    Intron 7      IVS 7 +1                                     X
Substitution    Intron 7      IVS 7 +3                                             X
Substitution    Intron 7      IVS 7 -2                                     X
Substitution    Intron 8      IVS 8 +1                                     X
Substitution    Intron 1   IVS 1 + 1567                                    X   X
Substitution    Intron 1      IVS 1 +1                                     X
Substitution    Intron 1      IVS 1 +2                                             X
Substitution    Intron 1     IVS 1 -11                                         X
Substitution    Intron 1      IVS 1 -1                                         X
Substitution    Intron 1       IVS 1-1                                     X
Substitution    Intron 1     IVS 1 -26                                     X
Substitution    Intron 1      IVS 1 -2                                     X
Substitution    Intron 1        IVS 1
Substitution    Intron 9     IVS 9 +18                                         X
Substitution    Intron 9      IVS 9 +1                                         X
Substitution    Intron 9      IVS 9 +1                                     X
Substitution    Intron 9      IVS 9 +1
Substitution    Intron 9      IVS 9 +2                                     X
Substitution    Intron 9      IVS 9 +5                                         X
Substitution    Intron 1        IVS 1
Substitution    Intron 1        IVS 1                                              X
Substitution    Intron 9     IVS 9 -15                                             X
Substitution    Intron 9      IVS 9 -2
Substitution    Intron 9      IVS 9 -3
Substitution    Intron 9      IVS 9 -5                                         X
Substitution    Intron 1      IVS 1 -5                                         X
Substitution   Intron 10     IVS 10 +1                                     X
Substitution   Intron 10    IVS 10 -18                                             X
Substitution   Intron 10     IVS 10 -1                                     X
Substitution   Intron 11     IVS 11 +5                                             X


                                               Page 132
                              1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution   Intron 11    IVS 11+5                                      X
Substitution   Intron 11    IVS 11 +5
Substitution   Intron 11    IVS 11 -1                                     X
Deletion       Intron 12    IVS 12 +1                                     X
Substitution   Intron 12    IVS 12 +1
Substitution   Intron 12    IVS 12+2
Deletion       Intron 12    IVS 12 +3
Substitution   Intron 12    IVS 12 +5
Substitution   Intron 12    IVS 12 +5                                             X
Substitution   Intron 12    IVS 12 -1
Substitution   Intron 12    IVS 12 -2
Substitution   Intron 12   IVS 12 -37
Substitution   Intron 13    IVS 13 +1                                     X
Substitution   Intron 13    IVS 13 +2
Substitution   Intron 13    IVS 13 -1                                     X
Substitution   Intron 13    IVS 13 -2
Substitution    Intron 2     IVS 2 +1                                     X
Substitution    Intron 2     IVS 2 +1                                     X
Substitution    Intron 2   IVS 2 +333                                     X
Substitution    Intron 2     IVS 2 +3                                     X
Substitution    Intron 2     IVS 2 -1
Substitution    Intron 3     IVS 3 +5                                     X
Substitution    Intron 3     IVS 3 +5                                     X
Substitution    Intron 3     IVS 3 +5                                     X
Substitution    Intron 3    IVS 3 -16                                             X
Substitution    Intron 3     IVS 3 -2                                     X
Substitution   Intron 14    IVS 14 +1
Substitution   Intron 14    IVS 14 +2                                     X
Substitution   Intron 14    IVS 14 +2                                     X
Substitution   Intron 14    IVS 14 +3                                     X
Substitution   Intron 14    IVS14 +3                                      X   X   X
Substitution   Intron 14    IVS 14 -1                                     X


                                              Page 133
                                            1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution             Intron 14         IVS 14 -2                                    X
Substitution             Intron 14         IVS 14 -2
Substitution             Intron 15        IVS 15 +13
Substitution             Intron 15         IVS 15 +1                                    X
Substitution             Intron 15         IVS 15 +1                                    X
Substitution             Intron 15         IVS 15 +1                                    X
Substitution             Intron 15         IVS 15 +2                                        X
Substitution             Intron 15         IVS 15 +6                                    X
Substitution             Intron 15         IVS 15 -1                                            X
Substitution             Intron 15         IVS 15 -1
Substitution             Intron 15         IVS 15 -2                                    X
Substitution             Intron 16         IVS 16 +2                                        X
Substitution             Intron 16         IVS 16 +5                                            X
Substitution             Intron 16         IVS 16 -1                                    X
Substitution             Intron 16         IVS 16 -2
Substitution             Intron 16         IVS 16 -2                                    X
Substitution             Intron 17         IVS 17 +2                                    X
Insertion/deletion       Intron 17     IVS 17 -13_-14                                   X
Substitution             Intron 18         IVS 18 +1                                    X   X
Substitution             Intron 18         IVS 18 -1                                    X
Deletion                 Intron 18      IVS 18 -2_-1                                        X
Substitution              Intron 4       IVS 4 +1632                                        X   X
Substitution              Intron 4          IVS 4 +3
Deletion                  Intron 4          IVS 4 +5                                            X
Substitution              Intron 4          IVS 4 +5                                            X
Substitution              Intron 4          IVS 4 +5
Substitution              Intron 4         IVS 4 -10                                            X
Deletion             Intron 4/Exon 5          186           A1            Heavy chain
Substitution              Intron 4          IVS 4 -1                                    X
Substitution              Intron 4          IVS 4 -2                                        X
Substitution              Intron 4          IVS 4 -3
Substitution              Intron 4          IVS 4 -3                                    X


                                                            Page 134
                                       1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Deletion       Exon 20/Intron 20         2020          A3            Light chain   X
Deletion            Intron 19      IVS 19 +1_+3
Substitution        Intron 19         IVS 19 +1                                    X
Substitution        Intron 19         IVS 19 +2                                    X
Deletion            Intron 19      IVS19 +3_+6                                     X
Substitution        Intron 19         IVS 19 +3                                    X
Substitution        Intron 19         IVS 19 +4
Substitution        Intron 19         IVS 19 +6                                    X
Substitution        Intron 19         IVS 19 +9                                        X
Substitution        Intron 19         IVS 19 -2                                    X
Substitution        Intron 19          IVS19 -3                                        X
Substitution        Intron 20         IVS 20 +1
Substitution        Intron 20         IVS 20 -1                                    X
Substitution        Intron 21         IVS 21 +1                                    X   X
Substitution        Intron 22         IVS 22 +1                                    X
Deletion            Intron 22         IVS 22 +2                                    X
Substitution        Intron 22         IVS 22 +2
Substitution        Intron 22         IVS 22 +5
Substitution        Intron 22        IVS 22 -14                                    X
Deletion       Intron 22/Exon 23         2125          C1            Light chain
Substitution        Intron 22         IVS 22 -2                                    X
Substitution        Intron 22         IVS 22 -3                                    X
Substitution        Intron 23         IVS 23 +1                                    X
Substitution        Intron 23         IVS 23 +1                                    X
Deletion            Intron 23      IVS 23 +3_+6                                    X
Substitution        Intron 23         IVS 23 +3                                    X
Substitution        Intron 23         IVS 23 +5                                    X
Substitution        Intron 23         IVS 23 -1                                    X
Substitution        Intron 23         IVS 23 -1                                    X
Substitution        Intron 23          IVS23 -2                                    X
Deletion        Exon 5/Intron 5           203          A1            Heavy chain
Substitution         Intron 5          IVS 5 +1                                    X


                                                       Page 135
                               1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    Intron 5      IVS 5 +2
Substitution    Intron 5      IVS 5 +5                                     X   X
Substitution    Intron 5      IVS 5 +6                                         X   X
Substitution    Intron 5     IVS 5 -11                                             X
Substitution    Intron 5      IVS 5 -2                                     X
Substitution    Intron 5      IVS 5 -3                                     X
Substitution   Intron 24     IVS 24 +1                                     X
Substitution   Intron 24     IVS 24 +1                                             X
Substitution   Intron 24     IVS 24 +1                                     X
Substitution   Intron 24     IVS24 +2                                      X
Substitution   Intron 24     IVS 24 -1                                         X
Substitution   Intron 24     IVS 24 -4                                             X
Substitution   Intron 25     IVS 25 +1                                     X
Substitution   Intron 25     IVS 25 +1                                             X
Substitution   Intron 25   IVS 25 +4104                                        X
Substitution   Intron 26     IVS 26 -2                                         X
Substitution    Intron 6    IVS 6 +143
Substitution    Intron 6      IVS 6 +1                                     X
Substitution    Intron 6      IVS 6 +2                                     X
Substitution    Intron 6      IVS 6 +3                                     X   X
Substitution    Intron 6      IVS 6 +5
Substitution    Intron 6      IVS 6 +5                                     X
Substitution    Intron 6      IVS 6 +6                                             X
Substitution    Intron 6     IVS 6 -14                                             X
Substitution    Intron 6      IVS 6 -1                                     X
Substitution    Intron 6      IVS 6 -1
Substitution    Intron 6      IVS 6 -1                                     X
Substitution    Intron 6      IVS 6 -8
Substitution        9           462            A2            Heavy chain           X
Substitution       11           498            A2            Heavy chain           X
Substitution       11           504            A2            Heavy chain       X   X
Substitution        2            50            A1            Heavy chain       X


                                               Page 136
                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


Substitution    3    93             A1            Heavy chain       X
Substitution   16   1843            A3            Light chain       X
Substitution   17   1882            A3            Light chain       X
Substitution   24   2213            C2            Light chain
Substitution    5    204            A1            Heavy chain   X
Substitution    6    243            A1            Heavy chain       X




                                    Page 137
                                                    1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


 Unclassified            Reported      History of                                       Reported in                    Year
                                                                 Comments
(no FVIII level)         Severity      Inhibitor                                         HAMSTeRS     Reference ID   Reported
                   Not reported      Unknown                                           Yes                 76          1996
                   Severe            Yes                                               Yes               H, 171        2007
       X           Severe            No                                                Yes                 29          1990
       X           Severe            Unknown                                           Yes                 28          1990
                   Severe            No                                                No                 178          2008
                   Severe            No                                                No                 161          2006
                   Severe            No                                                Yes               57, 74        1994
                   Moderate          No                                                Yes                  H
       X           Severe            No                                                No                 185         2008
                   Severe            No                                                No                 210         2011
                   Severe            No                                                No                 174         2008
                   Severe            No                                                Yes                130         2002
                   Severe            No                                                Yes                 57         1993
                   Not reported      Yes                                               Yes                137         2003
                   Severe            Yes                                               No                 178         2008
                   Severe            No                                                Yes                  H
                   Severe            Unknown                                           Yes                 91         1998
       X           Not reported      Unknown                                           No                 157         2006
                   Severe            Yes            Poly A Deletion                    Yes                H, 87       1998
                   Severe            No                                                Yes                  H
                   Severe            Yes                                               Yes                  H
                   Severe            No                                                Yes                  H
                   Severe            Yes                                               No                 170         2007
                   Severe            No                                                Yes                105         2000
                   Moderate/Severe   No                                                No                 167         2007
       X           Severe            Unknown                                           Yes                127         2002
                   Severe            No                                                Yes                  H
       X           Severe            Unknown                                           Yes                118         2001
       X           Severe            Unknown                                           Yes                118         2001
                   Severe            No                                                Yes                152         2005


                                                                      Page 138
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         Yes                                          Yes      H, 153   2005
    Not reported   Unknown                                      Yes       126     2002
    Severe         No                                           Yes        57     1993
    Severe         No                                           Yes       122     2001
    Severe         Yes                                          Yes         H
    Severe         No                                           Yes       116     2001
X   Severe         Unknown                                      No        181     2008
X   Severe         Unknown                                      Yes        45     1992
    Severe         No                                           No        209     2011
    Severe         Yes                                          No        177     2008
    Severe         No                                           No        201     2010
X   Severe         No                                           No        185     2008
    Severe         Unknown                                      Yes        57     1993
X   Severe         Unknown                                      No        181     2008
X   Severe         Unknown                                      Yes       118     2001
    Severe         Unknown                                      No        179     2008
    Not reported   No                                           Yes         H
    Severe         No                                           No        209     2011
X   Severe         Unknown                                      No        181     2008
    Severe         No                                           Yes         H
X   Severe         Unknown                                      No        181     2008
    Severe         No                                           Yes       130     2002
    Severe         Unknown                                      Yes         H
    Severe         No                                           No        178     2008
    Severe         No                                           Yes        74     1996
    Severe         No                                           Yes       154     2005
    Severe         No                                           Yes        57     1993
X   Not reported   Unknown                                      No        165     2007
    Severe         Unknown                                      Yes       147     2005
    Severe         Unknown                                      Yes         H
    Severe         No                                           Yes         H
    Severe         No                                           No        210     2011


                                             Page 139
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild              No                                           No        201     2010
    Severe            Unknown   Poly A Duplication                 Yes         H
    Severe            No                                           No        161     2006
    Severe            Yes                                          Yes       137     2003
    Severe            No                                           No        159     2006
X   Severe            No                                           No        176     2008
    Severe            No                                           Yes      H, 152
X   Severe            Unknown                                      No        181     2008
    Severe            Yes                                          Yes      H, 74    1996
    Severe            No                                           Yes        67     1994
    Severe            No                                           No        161     2006
    Severe            No                                           No        176     2008
    Not reported      Unknown                                      Yes       126     2002
    Severe            Yes                                          No        161     2006
    Severe            No                                           No        158     2006
    Severe            No                                           No        209     2011
    Not reported      No                                           Yes       137     2003
    Not reported      No                                           Yes       137     2003
    Moderate/Severe   Yes                                          No        177     2008
    Moderate          No                                           No        200     2010
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           No        159     2006
    Severe            Yes                                          Yes       125     2002
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes       137     2003
    Severe            No                                           Yes         H
    Not reported      Unknown                                      Yes       126     2002
    Severe            No                                           No        169     2007
    Severe            Yes                                          No        210     2011
    Severe            No                                           No        178     2008
    Severe            No                                           No        210     2011
    Severe            No                                           Yes        90     1998


                                                 Page 140
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         No                                           No        159     2006
    Severe         No                                           Yes       116     2001
    Severe         Unknown                                      No        163     2007
X   Severe         Unknown                                      Yes        74     1996
    Severe         No                                           No        169     2007
X   Severe         Yes                                          Yes      H, 112   2000
    Severe         No                                           Yes         H
    Severe         No                                           No        178     2008
    Severe         Yes                                          No        178     2008
    Severe         No                                           Yes       119     2001
    Severe         No                                           No        203     2010
    Severe         Yes                                          No        170     2007
X   Severe         Unknown                                      No        181     2008
    Severe         No                                           Yes       153     2005
X   Severe         Unknown                                      No        181     2008
    Severe         No                                           No        210     2011
    Severe         No                                           Yes         H
X   Severe         Unknown                                      Yes        89     1998
    Severe         Yes                                          No        158     2006
    Severe         No                                           No        209     2011
    Severe         No                                           Yes         H
X   Severe                                                      No        196     2010
    Not reported   No                                           Yes       137     2003
    Severe         Unknown                                      No        179     2008
    Severe         Yes                                          Yes       125     2002
    Severe         No                                           No        158     2006
    Severe         Yes                                          Yes       119     2001

    Severe         No                                           Yes       155     2005
    Severe         No                                           Yes       119     2001
    Severe         No                                           No        210     2011
    Severe         No                                           Yes       105     2000


                                             Page 141
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes      H, 118   2001
    Severe            No                                           Yes         H
X   Moderate          No                                           No        185     2008
X   Severe            Unknown                                      Yes         H
X   Severe            Unknown                                      No        181     2008
X   Severe            Unknown                                      No        181     2008
X   Severe            No        Poly A Deletion                    No        176     2008
    Severe            No                                           Yes      H, 204
    Severe            No                                           Yes       155     2005
    Severe            No                                           No        174     2008
    Severe            No                                           Yes         H
    Severe            No                                           No        193     2009
    Severe            No                                           No        161     2006
    Severe            Unknown                                      No        179     2008
    Severe            No                                           No        204     2010
    Moderate/Severe   Yes                                          Yes      H, 60    1993
    Severe            Yes                                          Yes       119     2001
    Severe            No                                           Yes        57     1993
    Severe            Yes                                          No        208     2011
    Severe            No                                           Yes         H
    Severe            No                                           No        158     2006
    Severe            No                                           Yes         H
    Severe            No                                           Yes      H, 152   2005
    Severe            No                                           Yes       119     2001
X   Severe            Unknown                                      No        181     2008
    Severe            Yes                                          Yes      H, 152   2005
    Severe            Yes                                          Yes       119     2001
    Severe            No                                           Yes         H
    Severe            No                                           Yes        68     1995
    SEVERE            No                                           No        210     2011
X   Severe            Unknown                                      No        181     2008


                                                  Page 142
                                 1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Severe             Unknown                                      No         183      2008
    Severe             No                                           Yes      152, 154   2005
    Severe             No                                           Yes        153      2005
    Severe             No                                           No         210      2011
    Severe             No                                           No         161      2006
    Moderate/Severe    Yes                                          Yes         72      1995
    Severe, moderate   No                                           No         158      2006
    Severe             Unknown                                      Yes        147      2005
X   Severe             Unknown                                      Yes        127      2002
    Severe             No                                           No         178      2008
    Severe             Yes                                          Yes        127      2002
    Severe             Unknown                                      Yes          H
    Moderate           Unknown                                      No         179      2008
    Severe             Unknown                                      No         180      2008
    Not reported       Unknown                                      Yes        126      2002
    Severe             No                                           No         161      2006
    Severe             Yes                                          No         209      2011
    Severe             Unknown                                      Yes          H
    Severe             No                                           Yes        129      2002
X   Severe             Unknown                                      No         181      2008
    Severe             Yes                                          No         171      2007
    Severe                                                          No         178      2008
    Severe             Unknown                                      Yes        104      2000
    Severe             Yes                                          No         170      2007
    Severe             No                                           Yes          H
    Severe             No                                           No         210      2011
    Severe             No                                           Yes        152      2005
    Severe             No                                           Yes         57      1993
X   Severe             No        Poly T Deletion                    Yes        150      2005
    Severe             Yes       Poly A Duplication                 Yes        119      2001
X   Severe             Unknown                                      Yes       H, 127    2002
    Severe             No                                           Yes         90      1998


                                                  Page 143
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           Yes        74       1996
X   Severe            No                                           No         139      2003
X   Severe            Unknown                                      No         181      2008
    Moderate          No                                           No         174      2008
    Severe            Unknown                                      No         184      2008
    Severe            Yes                                          No         209      2011
    Moderate/Severe   Yes                                          Yes       H, 57     1993
    Moderate/Severe   No        Poly A Duplication                 Yes       H, 72     1995
    Severe            No                                           Yes        67
    Not reported      No                                           Yes        137      2003
X   Severe            Unknown                                      No         183      2008
    Severe            No                                           Yes       42, 60    1991
X   Severe            Unknown                                      No         157      2006
    Moderate/Severe   No                                           Yes        93       1998
    Moderate          No                                           No         159      2006
    Severe            Unknown                                      Yes         H
    Severe            No                                           No         190      2009
    Severe            No                                           Yes        155      2005
    Severe            Yes                                          No         170      2007
    Not reported      Unknown                                      Yes        126      2002
    Severe            No                                           No         198      2010
    Severe            No                                           No         209      2011
    Not reported      Unknown                                      Yes        126      2002
    Not reported      Unknown                                      Yes        126      2002
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           No       159, 161   2006
    Severe            No                                           No         161      2006
    Severe                                                         No         178      2008
    Severe            Yes       Poly A Duplication                 No         128      2002
    Severe            No                                           No         169      2007
    Severe            No                                           No         209      2011
X   Severe            Unknown                                      No         181      2008


                                                 Page 144
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Severe            Unknown                                      No        181     2008
X   Not reported      Unknown                                      No        174     2008
    Moderate          No                                           No        198     2010
X   Severe            Unknown                                      No        181     2008
    Severe            Unknown                                      Yes       147     2005
    Severe            Yes                                          Yes       124     2001
    Severe            Unknown                                      Yes        57     1993
    Severe            No                                           No        161     2006
    Severe            No                                           Yes         H
X   Severe            Unknown                                      No        181     2008
    Not reported      No                                           Yes       137     2003
    Severe            No                                           Yes        57     1993
X   Severe            Yes                                          No        185     2008
    Moderate          Unknown                                      No        179     2008
X   Severe            No        Poly T Deletion                    No        185     2008
    Severe            No                                           No        209     2011
    Severe            No                                           No        209     2011
    Severe            Unknown                                      Yes        37     1991
X   Severe            Unknown                                      Yes       118     2001
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes       124     2001
    Moderate          No                                           No        204     2010
    Severe            No                                           Yes        72     1995
    Severe            No                                           No        158     2006
    Moderate/Severe   No                                           Yes         H
    Severe            No                                           Yes       122     2001
    Severe            No                                           Yes       102     1999
    Severe            No                                           Yes      H, 204   2010
    Severe            No                                           No        161     2006
    Severe            No        Poly G Duplication                 Yes       124     2001
    Severe            Yes                                          Yes      42, 60   1993
    Moderate/Severe   Yes                                          Yes        37     1991


                                                  Page 145
                                  1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         No                                                Yes      H, 128   2002
    Moderate       Yes                                               No        200     2010
    Severe         No                                                No        209     2011
X   Not reported   Unknown                                           No        157     2006
    Severe         No                                                No        178     2008
X   Severe         Yes                                               No        198     2010
    Severe         Yes                                               Yes      H, 154   2005
    Not reported   Unknown                                           Yes       137     2003
    Severe         No                                                Yes       104     2000
    Severe         Yes                                               No        203     2010
    Severe         No                                                No        210     2011
    Severe         No                                                No        161     2006
    Severe         Yes                                               No        210     2011
X   Severe         No                                                No        176     2008
    Severe         No                                                No        193     2009
X   Severe         Unknown                                           No        181     2008
X   Severe         Unknown                                           No        181     2008
    Severe         No                                                Yes       153     2005
    Severe         No                                                No        178     2008
    Severe         No                                                No        158     2006
X   Severe         Unknown                                           No        181     2008
    Severe         No                                                Yes       155     2005
    Severe         No                                                No        169     2007
                   No                                                Yes       127     2002
    Severe
    Severe         No                                                Yes       125     2002
    Not reported   Unknown                                           Yes       126     2002
    Severe         Yes                                               No        174     2008
    Severe         No                                                Yes        H
    Severe         Unknown                                           No        179     2008
    Severe         No                                                No        210     2011
X   Not reported   Not reported                                      No        178     2008


                                                  Page 146
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Unknown                                      Yes      104     2000
X   Severe            Unknown                                      Yes       37     1991
    Severe            Yes                                          Yes      125     2002
    Moderate          No                                           Yes        H
    Severe            No                                           Yes        H
X   Severe            Unknown                                      No       181     2008
    Severe            No                                           No       161     2006
    Severe                                                         No       103     1999
    Severe            No                                           No       203     2010
    Severe            No                                           No       161     2006
X   Severe            Unknown                                      No       181     2008
    Severe            No                                           Yes      125     2002
X   Severe            Unknown                                      No       181     2008
    Severe            No                                           No       161     2006
    Severe            No                                           No       161     2006
    Severe            No                                           No       200     2010
    Moderate/Severe   Yes                                          Yes      H, 57   1993
    Severe            No                                           No       174     2008
X   Severe            Unknown                                      Yes        H
    Severe            No                                           Yes       57     1993
X   Severe            Unknown                                      No       181     2008
    Severe            No                                           No       174     2008
    Severe            No                                           Yes      140     2004
    Severe            Yes                                          No       161     2006
    Severe            Yes                                          No       210     2011
    Severe            No                                           No       209     2011
X   Moderate/Severe   Unknown                                      No       181     2008
    Severe            No                                           Yes      119     2001
    Not reported      Unknown                                      Yes      126     2002
    Not reported      No                                           Yes      137     2003
    Severe            No                                           Yes        H
X   Severe            No                                           No       176     2008


                                                Page 147
                                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Yes                                             No       159   2006
    Severe            No                                              Yes       H
X   Moderate          Unknown                                         No       181   2008
X   Severe            Unknown                                         Yes       H
    Severe            No                                              Yes      140   2004
    Severe            No                                              Yes      123   2001
    Severe            Unknown      Poly A Deletion                    Yes      147   2005
    Severe            No                                              No       209   2011
    Severe            Unknown                                         Yes      63    1994
    Severe            No                                              Yes      140   2004
    Severe            No                                              Yes       H
X   Not reported      Not reported                                    No       178   2008
    Severe            No                                              Yes      155   2005
X   Severe            Unknown                                         Yes      127   2002
    Severe            Yes                                             No       158   2006
    Severe            No                                              No       203   2010
    Severe            Yes                                             Yes      85    1997
    Severe            No                                              No       169   2007
    Severe            No                                              No       193   2009
    Mild              No                                              No       162   2007
X   Severe            No                                              Yes      72    1995
    Severe            No                                              No       210   2011
    Severe                                                            No       187   2009
    Moderate/Severe   No                                              No       179   2008
    Severe            No                                              No       210   2011
    Severe            No                                              Yes      152   2005
X   Severe            Unknown                                         No       183   2008
X   Severe            No                                              No       185   2008
    Severe            No                                              No       178   2008
    Severe            Unknown                                         Yes      134   2003
    Severe            No                                              Yes      130   2002
    Severe            Yes                                             No       159   2006


                                                     Page 148
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           No       H, 174   2008
    Severe            No                                           Yes       127     2002
    Severe            No                                           Yes       153     2005
    Severe            No                                           No        170     2007
    Severe            No                                           Yes        74     1994
    Severe            No                                           No        210     2011
X   Severe            Yes                                          Yes         H
    Severe            No                                           Yes         H
    Severe            Unknown                                      No        163     2007
    Severe            No                                           Yes         H
    Moderate/Severe   No                                           No        170     2007
X   Severe            Unknown                                      Yes       129     2002
    Severe            Yes                                          Yes        69     1995
X   Severe            Unknown   Poly A Duplication                 Yes        37     1991
    Not reported      Unknown                                      Yes        76     1996
    Severe            No                                           Yes       102     1999
    Severe            No                                           Yes       130     2002
    Severe            No                                           Yes        72     1995
    Severe                                                         No        187     2009
    Severe            Unknown                                      Yes       147     2005
    Severe            Yes                                          No        161     2006
    Severe            Yes                                          Yes        74     1994
    Severe            Yes       Poly A Duplication                 Yes        72     1995
X   Severe            Yes                                          Yes       129     2002
    Moderate/Severe   Yes                                          Yes       134     2002
    Severe            No                                           No        178     2008
    Severe            No                                           No        210     2011
    Severe            No                                           No        210     2011
    Severe            Yes                                          Yes        74     1994
    Moderate          Unknown                                      Yes       147     2005
    Severe            Yes                                          Yes       130     2002
    Severe            No                                           Yes         H


                                                 Page 149
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         Unknown                                      Yes       147     2005
    Severe         No                                           Yes         H
    Severe         Yes                                          Yes         H
    Not reported   No                                           Yes       137     2003
    Severe                                                      No        178     2008
    Severe         Unknown                                      Yes         H
    Severe         No                                           Yes      H, 204
    Severe         No                                           Yes       125     2002
    Severe         Yes                                          No        159     2006
    Severe                                                      No        187     2009
    Severe         Yes                                          Yes       130     2002
X   Severe         Unknown                                      No        181     2008
    Moderate       No                                           No        178     2008
    Severe         No                                           No        209     2011
    Severe         Yes                                          No        159     2006
    Severe         Yes                                          No        203     2010
    Severe         Yes                                          Yes         H
    Severe         No                                           Yes         H
    Severe         No                                           Yes       122     2001
    Severe         Yes                                          Yes       130     2002
X   Severe         Unknown                                      Yes        67     1994
X   Severe         Unknown                                      Yes         H
X   Severe         Unknown                                      Yes        36     1991
    Severe         Unknown                                      Yes         H
    Severe         No                                           Yes         H
    Severe         No                                           Yes       107     2000
    Severe         No                                           No        174     2008
    Severe         Yes                                          Yes       124     2001
    Severe         Yes                                          No        161     2006
    Severe         No                                           No        161     2006
    Severe         No                                           No        208     2011
    Mild           No                                           No        162     2007


                                             Page 150
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         No                                           Yes        116      2001
    Severe         Yes                                          No         177      2008
    Severe         No                                           Yes        107      2000
    Severe         Yes                                          No         171      2007
    Severe         No                                           No         158      2006
    Not reported   Unknown                                      Yes         76      1996
    Severe         No                                           Yes         74      1994
    Severe         Yes       Poly A Deletion                    Yes        154      2005
    Severe         Yes                                          Yes        130      2002
    Severe         Yes                                          No       159, 161   2006
    Severe         Yes                                          Yes         96      1999
    Severe         No                                           Yes         57      1993
    Severe         Unknown                                      Yes        147      2005
    Severe         No                                           No         207      2010
    Moderate                                                    No         178      2008
    Moderate       No                                           No         178      2008
X   Severe         No                                           No         176      2008
    Severe         No                                           Yes       H, 127    2002
    Severe         No                                           Yes         57      1993
    Severe         Unknown                                      Yes        134      2003
    Severe         No                                           No         201      2010
    Severe         No                                           No         210      2011
    Severe         No                                           No         210      2011
    Severe         No                                           Yes         74      1994
    Severe         No                                           Yes        123      2001
X   Severe         Unknown                                      Yes          H
    Severe         No                                           No         170      2007
    Severe         No                                           Yes        125
    Severe         No                                           Yes          H
X   Severe         Unknown                                      No         181      2008
    Severe         No                                           Yes        105      2000
    Severe         No                                           Yes          H


                                               Page 151
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           Yes       105     2000
X   Severe            Unknown                                      Yes       129     2002
    Mild              Unknown   Loss of termination signal         Yes         H
    Severe            No                                           No        209     2011
X   Moderate          Unknown                                      No        181     2008
    Severe            No                                           Yes       105     2000
    Severe            No                                           Yes       125     2002
    Severe            No                                           Yes       130     2002
    Severe            No                                           Yes       105     2000
X   Moderate          Unknown                                      No        181     2008
    Severe            No                                           Yes        67     1994
    Moderate          Unknown                                      No        179     2008
X   Not reported      No                                           Yes       137     2003
    Severe                                                         No        178     2008
    Severe            Unknown                                      Yes        74     1996
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes      H, 204   2010
X   Severe            Unknown                                      Yes         H
    Severe            No                                           No        200     2010
    Severe            No                                           No        159     2006
                                                                   No        189     2009
    Moderate/Severe   No                                           Yes         H
    Severe            Unknown                                      Yes       137     2003
    Severe            No                                           No        178     2008
    Severe            Unknown                                      Yes        81     1997
    Severe            Yes                                          Yes       146     2004

    Severe            No                                           Yes       164     2007
    Severe            Yes                                          No        174     2008
    Severe            Unknown                                      Yes      H, 172   2007
    Severe            No                                           Yes       155     2005
X   Severe            Unknown                                      Yes         H


                                                  Page 152
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Yes                                          Yes      130     2002
    Severe            Yes                                          Yes       75     1996
    Severe            No                                           No       210     2011
    Moderate          Yes                                          No       177     2008
    Severe            Yes                                          Yes      155     2005
    Severe            Yes                                          No       178     2008
    Severe            No                                           Yes        9     1988
    Severe            Yes                                          No       210     2011
    Severe            Yes                                          Yes      H, 57   1993
    Severe            Yes                                          No       174     2008
    Severe            No                                           Yes      155     2005
    Severe            Yes                                          Yes      132     2002
    Severe            No                                           No       182     2008
X   Severe            Unknown                                      No       181     2008
    Severe            No                                           No       210     2011
    Severe            Yes                                          Yes       49     1992
X   Severe            No                                           Yes      170     2006
X   Severe            Unknown                                      Yes       80     1997
X   Severe            Yes                                          Yes      142     2004
X   SEVERE            No                                           No       209     2011
X   Severe            Yes                                          Yes      H, 9    1988
    Severe            Yes                                          Yes        H
    Severe            No                                           Yes        H
    Severe            Yes                                          Yes        H
    Moderate/Severe   Yes                                          Yes       17     1988
    Not reported      Unknown                                      Yes      126     2002
X   Not reported      Unknown                                      Yes        H     1986
    Severe            No                                           Yes       22     1989
    Severe            No                                           No       182     2008
X   Severe            Yes                                          Yes       27     1990
    Severe            Yes                                          Yes       31     1990
    Severe            Yes                                          Yes      130     2002


                                                Page 153
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Unknown                                      Yes      H, 166
    Mild/Moderate     No                                           No       27, 32   1990
    Severe            Yes                                          No        161     2006
    Severe            Unknown                                      Yes       143     2004
    Severe            Yes                                          No        177     2008
    Severe            Yes                                          No        204     2010
    Severe            Yes                                          Yes        13     1988
    Moderate/Severe   Yes                                          Yes      H, 60    1987
    Severe            No                                           No        182     2008
    Severe            Yes                                          No        209     2011
    Severe            Yes                                          Yes        31     1990
    Severe            No                                           No        182     2008
X   Severe            Yes                                          Yes      H, 33    1990
    Severe            Yes                                          No         19     2007
    Severe            Yes                                          Yes         9     1988
    Severe            No                                           Yes        11     1988
    Not reported      Unknown                                      Yes       126     2002
    Severe            No                                           Yes        31     1990
    Severe            Unknown                                      Yes        12     1988
    Severe            Unknown                                      Yes        12     1988
    Severe                                                         Yes       121     2001
    Severe            Yes                                          Yes       110     2000
    Severe            Yes                                          Yes        57     1993
    Severe            No                                           Yes       152     2005
X   Severe            Yes                                          Yes         H
    Moderate                                                       No        178     2008
    Severe            No                                           Yes         9     1988
    Moderate          No                                           No        178     2008
X   Severe            Unknown                                      Yes        42     1991
X   Severe            Yes                                          Yes         7     1988
    Severe            Yes                                          Yes        79     1996
    Severe            Yes                                          Yes        37     1991


                                                Page 154
                                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Yes                                             Yes      H, 54    1992
    Severe            No                                              Yes        62     1993
    Severe            No                                              Yes      57, 69   1994
    Severe            Yes                                             Yes        46     1992
X   Severe            Unknown                                         Yes        68     1995
    Moderate          No                                              No        210     2011
X   Severe            No                                              Yes        25     1989
    Severe            Yes                                             No        210     2011
X   Not reported      Not reported                                    No        178     2008
X   Severe            Unknown                                         Yes         4     1987
    Severe            No           Del caused by Alu insertion        Yes        59     1993
    Severe            Yes                                             Yes        31     1990
    Severe            Yes                                             No        177     2008
X   Severe            Unknown                                         Yes         H
    Severe            Yes                                             No        178     2008
    Severe            Yes                                             No        171     2007
    Severe            Yes                                             Yes        31     1990
    Severe            No                                              Yes       152     2005
    Severe            No                                              Yes      H, 26    1990
    Severe            No                                              No        182     2008
    Moderate/Severe   Yes                                             Yes        21     1989
    Severe            Yes                                             Yes      H, 171
    Moderate/Severe   Yes                                             Yes         6     1987
    Severe            Yes                                             Yes      52, 56   1992
X   Severe            No                                              Yes        25     1989
X   Moderate          No                                              Yes        50     1992
    Severe            Yes                                             Yes         1     1998
    Severe            No                                              No        182     2008
X   Severe            Yes                                             Yes        50     1992
    Severe            Yes                                             Yes       145     2004
    Severe            No                                              Yes         6     1987
    Severe            Yes                                             No        161     2006


                                                     Page 155
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Yes                                               Yes      6     1987
    Severe            Yes                                               Yes    126     2002
    Severe            No                                                Yes    124     2001
    Severe            Yes                                               Yes    139     2003
    Severe            Yes                                               Yes    H, 1
    Not reported      Unknown                                           Yes    126     2002
    Severe            Yes                                               Yes   H , 22   1989
X   Severe            Unknown                                           Yes      H
    Severe            No                                                No     182     2008
    Severe            Yes                                               No     210     2011
    Severe            No                                                Yes     15     1988
    Severe            Yes                                               Yes      H
X   Severe            Yes                                               Yes     27     1990
    Severe            No                                                No     207     2010
    Mild              No                                                No     162     2007
    Moderate          No                                                No     206     2010
    Moderate/Severe   No                                                Yes    114     2001
X   Moderate                                                            No     196     2010
    Mild              No        "inverse" 1st/2st FVIII:C discrepancy   Yes    102     1999
    Mild              No                                                No     178     2008
    Moderate          No                                                Yes   H, 204   2010
X   Mild              Unknown                                           No     181     2008
X   Moderate/Severe   No                                                Yes   28, 29   1990
X   Moderate          Unknown                                           No     181     2008
    Moderate          No                                                Yes    126     2002
    Severe            No                                                Yes    111     2000
    Severe            No                                                Yes     29     1990
    Mild/Severe       No                                                Yes   57, 71   1994
    Moderate          No                                                Yes   57, 70   1994
X   Severe            No                                                No     176     2008
    Mild              No        "inverse" 1st/2st FVIII:C discrepancy   Yes   H, 115   2001
    Mild              No                                                No     162     2007


                                                  Page 156
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild                   No                                           No        159     2006
    Mild                   Unknown                                      Yes       149     2005
    Mild/Moderate/Severe   No        Thrombin activation site           Yes      H, 24    1990
    Mild/Moderate/Severe   No        Thrombin activation site           Yes        18     1989
    Severe                 No        Thrombin activation site           Yes        50     1992
    Mild                   No        Thrombin activation site           Yes      66, 67   1994
    Mild                   No        Thrombin activation site           Yes        55     1993
X   Mild                   No                                           No        185     2008
    Mild                   No                                           No        178     2008
X   Not reported           Unknown                                      No        165     2007
    Mild                   No                                           Yes      H, 153   2005
    Mild                   Unknown                                      Yes       137     2003
    Severe                 Yes                                          Yes         H
    Moderate               No                                           Yes       102     1999
    Moderate               No                                           No        210     2011
    Severe                 No                                           Yes        57     1993
    Mild/Severe            No                                           Yes        67     1994
    Moderate/Severe        No                                           Yes      57, 73   1994
    Not reported           No                                           Yes         H
    Severe                 Yes                                          Yes       130     2002
    Severe                 No                                           Yes       102     1999
    Mild                   No                                           No        159     2006
    Moderate                                                            No        206     2010
    Severe                 No                                           Yes       152     2005
    Mild                   No                                           No        159     2006
    Moderate               No                                           Yes      H, 174   2008
    Moderate               Unknown                                      No        179     2008
    Not reported           No                                           Yes         H
    Mild                   Unknown                                      Yes       127     2002
    Mild/Moderate          No                                           Yes        36     1991
    Severe                 Unknown                                      No        173     2008
    Severe                 No                                           Yes       127     2002


                                                      Page 157
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Moderate          No                                           Yes        130      2002
X   Mild              Unknown                                      No         181      2008
    Moderate          Unknown                                      Yes        134      2003
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           Yes        130      2002
X   Moderate          Unknown                                      No         181      2008
    Moderate/Severe   Yes                                          Yes       89, 90    1998
X   Severe            Unknown                                      No         181      2008
    Mild/Moderate     Unknown                                      Yes      125, 136   2002
    Severe            No                                           No         161      2006
    Severe            No                                           Yes        37       1991
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           Yes        147      2005
    Severe            No                                           No         210      2011
    Mild              No                                           No         159      2006
X   Not reported      Unknown                                      No         157      2006
    Severe            No                                           Yes        152      2005
    Mild/Moderate     No                                           Yes        61       1993
X   Severe            No                                           Yes        150      2005
    Mild              No                                           No         158      2006
    Mild              No                                           Yes        90       1998
X   Severe            Unknown                                      No         181      2008
    Mild/Moderate     No                                           Yes        114      2001
X   Moderate/Severe   Unknown                                      No         181      2008
    Severe            No                                           Yes        122      2001
    Severe            Unknown                                      No         179      2008
    Severe            No                                           No         209      2011
    Moderate          No                                           No         162      2007
    Mild/Moderate     No                                           Yes        102      1999
    Mild              Yes                                          Yes        130      2002
    Mild              No                                           Yes        90       1998
X   Moderate          Unknown                                      No         181      2008


                                                Page 158
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe                 No                                           Yes        87     1998
    Severe                 No                                           No        193     2009
    Severe                 No                                           Yes       102     1999
X   Mild                   No                                           No        185     2008
    Moderate               No                                           Yes       123     2001
    Moderate               No                                           Yes      H, 128   2002
    Severe                 No                                           Yes       102     1999
    Mild                   No                                           Yes         H
    Mild                   No                                           No        159     2006
    Moderate                                                            No        206     2010
    Severe                 No                                           Yes        74     1994
    Severe                                                              No        178     2008
X   Severe                 No                                           No        176     2008
    Mild                   No                                           No        203     2010
    Moderate               No                                           Yes       102     1999
    Not reported           Unknown                                      Yes        81     1997
    Moderate                                                            No        178     2008
X   Not reported           Unknown                                      No        165     2007
    Moderate               No                                           Yes         H
    Mild                   No                                           Yes       102     1999
X   Mild                   No                                           Yes        37     1991
    Mild                   No                                           Yes      57, 73   1994
X   Moderate/Severe        No                                           No        185     2008
    Mild/Moderate/Severe   Yes                                          Yes        59     1993
X   Mild                   No                                           Yes       153     2005
X   Not reported           Unknown                                      Yes         H
    Moderate               Yes                                          Yes       130     2002
X   Moderate               No                                           No        185     2008
    Mild                   No                                           No        203     2010
    Moderate               Unknown                                      Yes       134     2003
    Mild                   Yes                                          No        204     2010
X   Mild                   Unknown                                      No        151     2005


                                                     Page 159
                              1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild            No                                           No       158, 159   2006
    Not reported    Unknown                                      Yes        126      2002
X   Mild            No                                           Yes          H
    Severe          No                                           No         210      2011
    Mild            No                                           Yes       H, 169    2007
    Moderate        No                                           Yes        137      2003
X   Not reported    No                                           No         174      2008
    Mild            No                                           Yes         90      1998
    Moderate        No                                           Yes       57, 84    1994
    Severe          Unknown                                      No         163      2007
    Mild            No                                           No         162      2007
    Mild/Moderate   No        1-st/2-st FVIII:C discrepancy      Yes       36, 42    1991
    Severe          No                                           Yes        155      2005
    Severe          No                                           Yes       H, 152    2005
    Mild/Moderate   No                                           Yes         36      1991
    Mild            Yes       1-st/2-st FVIII:C discrepancy      Yes         36      1991
    Mild            No        1-st/2-st FVIII:C discrepancy      Yes       57, 73    1994
    Severe          Yes                                          No         176      2008
    Severe          No                                           Yes         90      1998
    Mild            No                                           No         178      2008
    Mild            Yes                                          Yes         42      1991
    Moderate        Unknown                                      Yes         93      1998
    Moderate        Unknown                                      No         179      2008
    Mild            No                                           Yes         90      1998
    Severe          No                                           No         197      2010
    Severe          No                                           Yes        102      1999
    Severe          No                                           Yes         96      1999
    Severe          No                                           Yes          H
    Severe          No                                           Yes         37      1991
    Mild            Unknown                                      No         186      2009
    Moderate        No                                           Yes          H
    Mild            Unknown                                      No         157      2006


                                                Page 160
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           Yes       152     2005
    Mild              No                                           No        162     2007
    Mild              No                                           Yes       134     2003
    Severe            Unknown                                      Yes       147     2005
    Severe            Unknown                                      Yes         H
X   Severe            No                                           No        185     2008
    Mild              No                                           No        178     2008
    Moderate          No                                           No        159     2006
    Mild              No                                           Yes         H
    Moderate          No                                           No        210     2011
    Not reported      Unknown                                      Yes        58     1993
    Mild              No                                           Yes        90     1998
    Mild              No                                           No        210     2011
X   Mild              Unknown                                      Yes       127     2002
    Mild              Unknown                                      Yes       123     2001
    Severe            No                                           No        159     2006
    Mild              No                                           No        162     2007
    Mild              No                                           Yes       130     2002
    Mild/Moderate     No                                           Yes      36, 42   1991
    Mild/Severe       No                                           Yes      H, 102   1999
    Mild              No                                           Yes       127     2002
    Moderate/Severe   No        New N-glycosylation site N564      Yes      42, 43   1991
    Severe            No                                           Yes       105     2000
    Mild              No                                           Yes       116     2001
X   Severe            Unknown                                      Yes       137     2003
    Severe            No                                           Yes       102     1999
    Mild              No                                           Yes       130     2002
X   Not reported      Unknown                                      Yes        42     1991
    Severe            No                                           Yes         H
    Severe            No                                           No        210     2011
X   Severe            Unknown                                      No        181     2008
    Severe            Unknown                                      Yes       102     1999


                                                 Page 161
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Unknown                                      Yes       102     1999
    Mild              No                                           Yes      H, 102   1999
    Mild              No                                           No        178     2008
    Severe            No                                           No        210     2011
    Severe            No                                           No        178     2008
X   Not reported      Unknown   Loss N-glycosylation site N582     Yes        42     1991
    Moderate/Severe   No        Loss N-glycosylation site N582     Yes        90     1998
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes        57     1993
    Moderate          No                                           Yes       102     1999
    Severe            No                                           Yes        57     1993
    Moderate/Severe   No                                           Yes      H, 130   2002
    Mild/Moderate     Yes                                          Yes      42, 44   1991
    Severe            No                                           No        190     2009
X   Mild              No                                           No        198     2010
    Severe            No                                           No        193     2009
X   Not reported      Unknown                                      Yes        42     1991
    Severe            Unknown                                      No        173     2008
    Severe            Unknown                                      Yes        91     1998
X   Mild              Unknown                                      No        181     2008
    Mild              No                                           No        210     2011
    Mild              No                                           Yes        90     1998
    Mild              No                                           Yes       130     2002
    Severe            No                                           No        210     2011
X   Moderate/Severe   Unknown                                      Yes        68     1995
    Mild              No                                           No        169     2007
    Mild/Severe       Yes                                          Yes      H, 108   2000
X   Moderate          No                                           No        185     2008
    Severe            No                                           Yes         H
X   Severe            Unknown                                      No        181     2008
    Moderate          No                                           Yes        85     1997
    Moderate          Unknown                                      Yes         H


                                                 Page 162
                              1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild            No                                           No       178     2008
    Mild            No                                           Yes      H, 87   1998
    Severe          No                                           No       159     2006
    Moderate        No                                           Yes        H
    Mild            No                                           No       162     2007
    Moderate                                                     No       206     2010
    Severe                                                       No       195     2007
    Mild            No                                           Yes      127     2002
    Severe          No                                           Yes       58     1993
    Mild            No                                           Yes       58     1993
    Moderate        Unknown                                      Yes      147     2005
    Mild            No                                           No       178     2008
    Mild            No                                           No       174     2008
X   Moderate        Unknown                                      No       181     2008
X   Severe          Unknown                                      Yes      H, 74   1996
    Severe          No                                           Yes        H
    Mild/Moderate   No                                           Yes       36     1991
    Severe          No                                           Yes      105     2000
X   Moderate        Unknown                                      No       181     2008
X   Mild            Unknown                                      No       151     2005
    Severe          No                                           Yes      130     2002
    Severe                                                       No       195     2010
    Mild            No                                           No       178     2008
    Mild            No                                           Yes        H
X   Not reported    Unknown                                      Yes      123     2001
    Moderate        No                                           No       178     2008
    Severe          No                                           No       159     2006
    Mild            No                                           No       162     2007
    Mild/Moderate   No                                           Yes       67     1994
X   Moderate        Unknown                                      No       181     2008
    Severe          No                                           Yes      152     2005
    Severe          No                                           Yes      152     2005


                                              Page 163
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild              No                                                No       178   2008
    Moderate          No                                                No       201   2010
X   Mild              No                                                Yes      153   2005
    Mild              No                                                Yes      127   2002
X   Moderate          Unknown                                           No       181   2008
    Mild/Moderate     Yes                                               Yes      88    1998
    Mild              No                                                Yes      90    1998
    Severe            No                                                Yes      123   2001
    Not reported      No                                                Yes      83    1997
    Mild              No                                                Yes       H
    Severe            No                                                No       206   2010
    Severe            No                                                No       203   2010
X   Not reported      Not reported                                      No       178   2008
    Severe            No                                                Yes       H
    Severe            Yes                                               Yes      105   2000
X   Severe            Unknown                                           No       181   2008
    Severe            No                                                No       210   2011
X   Moderate          No                                                No       198   2010
X   Moderate/Severe   Unknown                                           No       181   2008
    Mild              No                                                No       159   2006
    Mild              No                                                No       178   2008
    Moderate/Severe   No                                                No       169   2007
    Mild              No                                                Yes       H
    Mild              No                                                Yes      123   2001
    Severe            No                                                Yes      87    1998
    Moderate          No                                                Yes       H
    Moderate          No                                                No       178   2008
    Mild              No                                                Yes      130   2002
    Moderate          No                                                No       201   2010
    Severe            No                                                Yes      155   2005
X   Mild              Unknown                                           No       181   2008
    Mild              No                                                Yes      130   2002


                                                     Page 164
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Severe            Yes                                          No       127   2002
    Mild              Unknown                                      Yes       H
X   Severe            Unknown                                      Yes       H
X   Severe            Yes                                          No       148   2005
X   Moderate          No                                           Yes      72    1995
    Mild              Unknown                                      No       186   2009
X   Not reported      No                                           Yes      123   2001
    Severe                                                         No       178   2008
    Mild              No                                           No       162   2007
    Severe            Unknown                                      No       163   2007
    Not reported      No                                           Yes       H
    Mild              Unknown   1-st/2-st FVIII:C discrepancy      Yes      109   2000
    Mild              No                                           No       178   2008
    Mild/Moderate     No        1-st/2-st FVIII:C discrepancy      Yes      44    1992
    Moderate          Unknown                                      Yes      134   2003
X   Mild              Unknown                                      No       181   2008
    Mild              No                                           Yes       H
    Mild              No        1-st/2-st FVIII:C discrepancy      Yes      78    1996
X   Mild              No                                           No       194   2009
    Severe            No                                           Yes      137   2003
    Severe            No                                           No       210   2011
    Moderate/Severe   Yes                                          Yes      69    1995
    Severe            Yes                                          No       159   2006
    Mild              No                                           Yes      90    1998
X   Severe            Unknown                                      No       181   2008
    Mild              No                                           No       162   2007
    Severe            No                                           No       130   2002
    Severe            No                                           Yes      130   2002
    Mild/Moderate     No                                           Yes      37    1991
    Mild              No                                           No       210   2011
    Severe            No                                           Yes       H
    Mild              Unknown                                      No       186   2009


                                                  Page 165
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild              No                                           No        178     2008
    Severe            No                                           Yes       127     2002
    Severe            Yes                                          Yes       87      1998
    Severe            No                                           Yes        H
    Severe            No                                           No        210     2011
    Mild              No                                           Yes       153     2005
    Mild              No                                           Yes      57, 73   1994
    Mild              No                                           Yes       90      1998
    Severe            No                                           Yes       105     2000
    Moderate          Yes                                          No        178     2008
    Moderate          No                                           Yes       69      1995
    Severe                                                         No        103     1999
    Severe            No                                           Yes       152     2005
    Mild              No                                           No        169     2007
X   Mild              No                                           No        185     2008
    Moderate          No                                           No        178     2008
    Severe            No                                           No        203     2010
    Severe            No                                           Yes       80      1997
    Moderate/Severe   No                                           Yes      H, 74    1994
    Severe            Yes                                          No        205     2010
    Severe            No                                           Yes        H
    Severe            No                                           No        201     2010
    Moderate          No                                           No        195     2010
X   Severe            Unknown                                      No        181     2008
    Mild              Yes                                          Yes       44      1992
X   Moderate          No                                           No        176     2008
    Severe            Unknown                                      No        179     2008
X   Mild                                                           No        202     2010
    Mild              No                                           No        178     2008
    Mild              Unknown                                      No        174     2008
    Severe            No                                           Yes        H
    Mild              No                                           No        162     2007


                                                Page 166
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                                No        159     2006
    Severe            Yes                                               Yes       133     2002
    Severe            No                                                Yes        90     1998
    Moderate                                                            No        196     2010
    Moderate          No                                                Yes      H, 204
    Moderate/Severe   No                                                Yes        74     1994
    Mild              No                                                No        210     2011
X   Severe            Unknown                                           Yes        74     1996
X   Not reported      Not reported                                      No        178     2008
    Severe            Unknown                                           Yes       133     2002
    Severe            Unknown                                           Yes       118     2001
    Severe            No                                                Yes        90     1998
X   Severe            Unknown                                           Yes        74     1996
    Severe            Yes                                               Yes       137     2003
X   Severe            Unknown                                           No        181     2008
    Mild              No                                                No        178     2008
    Mild              No                                                Yes        44     1992
X   Mild              No                                                No        198     1992
    Severe            No                                                No        210     2011
    Mild              No                                                No        178     2008
X   Mild              Unknown                                           Yes        37     1991
X   Not reported      Unknown                                           Yes         H
    Mild                                                                No        178     2008
    Mild              No                                                Yes        37     1991
    Severe            No                                                No        209     2011
X   Severe            No                                                Yes       150     2005
X   Mild                                                                No        196     2010
    Moderate          No                                                Yes       127     2002
    Mild/Moderate     No                                                Yes       127     2002
X   Mild              Unknown                                           Yes        68     1995
X   Severe            Unknown                                           No        181     2008
X   Moderate          Unknown                                           No        181     2008


                                                     Page 167
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           No         161      2006
    Moderate          No                                           No         210      2011
X   Moderate          Unknown                                      No         181      2008
X   Severe            Unknown                                      No         183      2008
    Mild              No                                           Yes        123      2001
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           Yes        74       1994
    Moderate          No                                           No         169      2007
    Mild              No                                           No         162      2007
X   Not reported      No                                           Yes         H
    Moderate          No                                           Yes        102      1999
    Severe            No                                           Yes         H
    Moderate          Unknown                                      No         180      2008
    Severe            Yes                                          No         171      2007
    Severe            No                                           Yes        155      2005
    Moderate          No                                           Yes        155      2005
X   Severe            Unknown                                      No         181      2008
    Mild              No                                           No         159      2006
    Severe            No                                           Yes         H
X   Severe            Unknown                                      No         181      2008
                      No                                           No         203      2010
    Severe            Unknown                                      Yes        91       1998
    Severe            No                                           No         209      2011
    Moderate/Severe   No                                           Yes       H, 57     1993
    Not reported      No                                           No       194, 210
    Mild              No                                           No         169      2007
    Severe/Mild       Yes                                          Yes        67       1994
    Not reported      Unknown                                      Yes        58       1993
    Mild              No                                           No         90       1998
    Mild              No                                           Yes        93       1994
    Severe            No                                           Yes         H
X   Severe            Unknown                                      No         181      1994


                                                Page 168
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         Unknown                                      No        179     2008
    Severe         No                                           Yes       118     2001
    Severe         No                                           Yes        74     1994
    Severe         No                                           Yes       152     2005
    Severe         No                                           No        161     2006
    Severe         Unknown                                      No        173     2008
    Severe         No                                           Yes       123     2001
    Moderate       No                                           Yes      57, 73   1994
X   Not reported   Unknown                                      Yes        58     1993
X   Mild           Unknown                                      Yes       127     2002
    Severe         No                                           Yes      H, 122   2001
    Moderate       No                                           Yes      H, 204   2010
    Not reported   No                                           Yes         H
    Mild           Unknown                                      Yes       147     2005
    Mild           No                                           No        210     2011
    Moderate       No                                           Yes        90     1998
    Severe         No                                           No        159     2006
    Mild           No                                           Yes         H
    Mild           No                                           No        178     2008
X   Severe         No                                           Yes       129     2002
    Severe         No                                           Yes         H
X   Mild           No                                           No        151     2005
X   Severe         Unknown                                      No        181     2008
    Not reported   Unknown                                      Yes        76     1996
    Mild           Unknown                                      Yes         H
    Mild           No                                           No        169     2007
    Moderate       Unknown                                      Yes       134     2003
    Moderate       No                                           Yes        90     1998
    Moderate       No                                           No        181     2008
    Severe         Unknown                                      No        173     2008
    Mild           No                                           Yes       155     2005
    Mild           Unknown   1-st/2-st FVIII:C discrepancy      No        175     2008


                                               Page 169
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Moderate          No                                            Yes       90     1998
    Mild              No                                            No       180     2008
    Moderate/Severe   No                                            Yes       90     1998
X   Mild              Unknown                                       Yes       44     1992
    Severe            No                                            Yes       57     1993
    Severe            No                                            Yes        H
    Mild              No                                            No       203     2010
    Severe            No                                            Yes      152     2005
    Severe            No                                            Yes        H
    Mild                                                            No       178     2008
    Severe            No                                            Yes       87     1998
X   Mild              No                                            No       198     2010
    Mild              No                                            Yes     H, 90    1998
    Mild              No                                            No       178     2008
X   Moderate/Severe   No        Sulphated Tyr/vWF binding           Yes       35     1990
    Mild/Moderate     No        Sulphated Tyr/vWF binding           Yes       28     1990
    Mild              No                                            Yes     H, 120
    Severe            Yes                                           No       210     2011
    Sev/Mod           No                                            Yes        H
    Severe            No                                            Yes     H, 28    1990
X   Severe            No                                            Yes        H
    Mild              No                                            Yes        H
    Moderate          No                                            Yes      128     2002
    Mild              No                                            No       178     2008
    Mild              No                                            Yes       54     1992
X   Mild              No                                            Yes      153     2005
    Moderate          No                                            No       158     2006
    Severe            Unknown   Loss of conserved disulphide link   Yes      168     2007
    Severe            Yes                                           Yes     H, 210   2011
    Mild              Unknown                                       No       186     2009
    Mild              No                                            No       178     2008
    Severe            No                                            No       158     2006


                                                  Page 170
                                 1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Mild               No                                           No         185      2008
    Moderate/Severe    No                                           Yes        153      2005
    Severe             No                                           Yes        40       1991
    Severe             No                                           Yes        102      1999
X   Severe             Unknown                                      No         181      2008
    Mild               Yes                                          No         178      2008
    Mild               No                                           Yes        127      2002
    Severe             Yes                                          No         203      2010
    Moderate; Severe   No                                           Yes        35       1990
    Mild               Unknown                                      No         186      2009
    Severe             No                                           No         203      2010
X   Mild               Unknown                                      No         181      2008
    Mild               No                                           No         178      2008
X   Mild               Unknown                                      Yes        127      2002
    Severe             No                                           No       158, 161   2006
    Severe             No                                           No         209      2011
X   Moderate           Unknown                                      No         181      2008
    Severe             No                                           Yes        102      1999
    Severe             Yes                                          No         177      2008
    Severe             No                                           No       173, 176   2008
X   Severe             Unknown                                      No         181      2008
    Mild               No                                           No         178      2008
    Severe             No                                           No         209      2011
    Severe             No                                           Yes        153      2005
    Moderate           No        1-st/2-st FVIII:C discrepancy      Yes         H
    Mild               No                                           Yes        102      1999
    Mild               No                                           No         204      2010
    Mild               No                                           Yes         H
    Severe             No                                           No         159      2006
    Mild               Unknown                                      Yes        147      2005
X   Moderate           No                                           No         185      2008
    Severe             No                                           Yes        153      2005


                                                   Page 171
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild              Unknown                                      Yes         H
    Mild              No                                           Yes      H, 137    2003
    Mild              No                                           Yes      57, 153   1994
    Severe            No                                           Yes       155      2005
    Severe                                                         No        161      2006
    Mild              No                                           Yes       137      2003
X   Not reported      Unknown                                      No        165      2007
    Mild              Unknown                                      Yes       120      2001
    Severe            No                                           Yes      H, 158    2006
    Severe            No                                           No        163      2007
    Mild/Moderate     No                                           Yes        73      1995
    Mild              No                                           No        169      2007
    Mild              No                                           Yes        73      1995
X   Not reported      Unknown                                      No        165      2007
    Mild              No                                           No        203      2010
    Severe            Unknown                                      No        179      2008
    Moderate          No                                           Yes       128      2002
    Severe            No                                           Yes        90      1998
    Severe            Yes                                          Yes        57      1993
    Mild              No                                           No        159      2006
    Moderate          No                                           Yes       130      2002
    Severe            No                                           Yes       124      2001
    Mild              Unknown                                      Yes         H
    Moderate/Severe   No                                           No        179      2008
    Mild              No                                           No        178      2008
    Mild              Yes                                          No        210      2011
    Moderate          No                                           Yes        90      1998
    Mild              No                                           Yes       123      2001
    Not reported      No                                           Yes         H
    Moderate          No                                           No        158      2006
    Severe            No                                           No        159      2006
    Severe            No        New N-glycosylation site           Yes      42, 43    1991


                                                 Page 172
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Moderate               Unknown                                      No        180     2008
    Moderate; Mild         Yes                                          No        203     2010
    Mild                   Unknown                                      No        167     2007
    Severe                 No                                           Yes       155     2005
X   Severe                 Unknown                                      No        181     2008
X   Mild                   No                                           Yes      H, 153
    Severe                 No                                           No        210     2011
    Severe                 Yes                                          Yes       130     2002
    Moderate               No                                           No        162     2007
    Moderate               No                                           No        178     2008
    Mild                   Unknown                                      Yes         H
X   Severe                 Unknown                                      No        181     2008
    Mild/Moderate          No                                           Yes      H, 73    1995
    Mild/Moderate/Severe   No                                           Yes        47     1992
    Mild/Moderate/Severe   YES                                          Yes        36     1991
    Mild                   No                                           Yes        90     1998
    Severe                 No                                           Yes         H
    Mild/Moderate          No                                           Yes       102     1999
    Severe                 No                                           No        161     2006
X   Severe                 Unknown                                      Yes        37     1991
    Severe                 Unknown                                      Yes       134     2003
X   Severe                 Unknown                                      No        181     2008
    Mild                   Yes                                          No        169     2007
    Moderate               No                                           No        203     2010
X   Mild                   Unknown                                      No        181     2008
    Mild/Moderate          No                                           Yes        44     1992
X   Mild                   No                                           Yes       153     2005
    Mild                   No                                           Yes        44     1992
    Mild                   Unknown   1-st/2-st FVIII:C discrepancy      No        153     2005
    Mild                   No                                           Yes       134     2003
    Mild                   No                                           No        158     2006
    Moderate               Yes                                          No        174     2008


                                                       Page 173
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           No        193     2009
    Moderate                                                       No        178     2008
    Mild              No                                           No        162     2007
X   Moderate          Unknown                                      No        183     2008
    Mild/Moderate     No                                           Yes      H, 57    1993
    Mild              No                                           Yes      H, 153   2005
    Mild              No                                           No        159     2006
    Mild/Moderate     No                                           Yes        36     1991
    Mild              No                                           No        162     2007
X   Mild              No                                           Yes       153     2005
X   Mild              No                                           Yes        45     1992
    Moderate          No                                           No        158     2006
    Severe            Yes                                          No        178     2008
    Severe            No                                           No        178     2008
    Mild              Unknown                                      Yes         H
X   Mild              No                                           Yes       130     2002
    Mild              No                                           No        178     2008
    Mild              No                                           No        210     2011
X   Mild              Unknown                                      Yes       127     2002
    Mild              No                                           Yes        36     1991
    Severe            No                                           No        209     2011
    Severe            Unknown                                      Yes         H
    Moderate          No                                           Yes       102     1999
    Mild              No                                           Yes        57     1993
X   Mild              Unknown                                      Yes         H
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           No        163     2007
X   Moderate          No                                           Yes         H
    Moderate          No                                           No        200     2010
    Severe            No                                           No        193     2009
X   Moderate/Severe   Unknown                                      No        185     2008
    Severe            No                                           No        209     2011


                                                Page 174
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe, Moderate       No                                           Yes      H, 130   2002
    Severe                 No                                           Yes       127     2002
    Severe                 Unknown                                      No        167     2007
    Moderate               Unknown                                      No        179     2008
X   Moderate               Unknown                                      Yes       127     2002
    Mild                   No                                           No        178     2008
X   Mild                   No                                           No        151     2005
    Moderate               No                                           Yes       102     1999
    Severe                 No                                           Yes        74     1994
    Severe                 No                                           Yes        74     1994
    Severe                 No                                           Yes       174     2008
    Severe                 No                                           Yes         H
X   Mild                   Unknown                                      Yes        68     1995
    Mild/Moderate/Severe   No                                           Yes        36     1991
    Severe                 Unknown                                      No        167     2007
X   Severe                 No                                           No        148     2005
    Severe                 Yes                                          Yes       127     2002
    Severe                 No                                           Yes        93     1998
    Severe                                                              No        206     2010
    Severe                 No                                           Yes       124     2001
    Severe                 No                                           Yes        74     1994
    Mild/Moderate          No                                           Yes      H, 193
    Severe                 Unknown                                      Yes       126     2002
    Mild                   No                                           Yes       123     2001
    Mild                   No                                           No        119     2001
    Severe                 Unknown                                      Yes       126     2002
    Severe                 No                                           No        208     2011
    Severe                 No                                           Yes       102     1999
    Mild/Moderate/Severe   No                                           Yes      57, 69   1994
    Mild                   No                                           No        210     2011
    Moderate               No                                           Yes        20     1989
    Mild                   No                                           No        162     2007


                                                     Page 175
                                      1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe             No                                                Yes        152      2005
    Moderate           No                                                Yes         85      1997
    Severe             No                                                No         161      2006
    Severe             No                                                No         210      2011
    Severe             No                                                No         178      2008
    Mild               No                                                Yes         90      1998
    Severe             No                                                Yes         57      1993
    Severe             No                                                Yes          H
    Severe             Unknown                                           Yes        137      2003
    Severe, Moderate   No                                                Yes        130      2002
    Severe             No                                                No         188      2009
    Moderate/Severe    No                                                Yes        130      2002
X   Mild               No                                                Yes         85      1997
    Moderate           YES                                               Yes        111      2000
    Mild               No                                                Yes          H
    Mild               Unknown                                           No         186      2009
    Mild               No                                                No         162      2007
    Severe             No                                                Yes        124      2001
X   Severe             Unknown                                           No         181      2008
    Severe             No                                                Yes        101      1999
    Mild               No                                                No         159      2006
X   Not reported       Not reported                                      No         178      2008
    Mild               No                                                Yes       H, 204    2010
    Mild               No                                                No         178      2008
    Severe             No                                                Yes        130      2002
    Severe             No                                                No       159, 161   2006
    Mild               No                                                No         178      2008
    Moderate/Severe    Yes                                               Yes         35      1990
X   Moderate/Severe    Unknown                                           Yes         37      1991
    Moderate           No                                                No         178      2008
    Severe             No                                                No         210      2011
X   Severe             Unknown                                           No         181      2008


                                                      Page 176
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe                 Yes                                          No        178     2008
    Moderate               No                                           Yes      H, 116   2001
    Moderate               No                                           No        178     2008
    Mild                   No                                           No        203     2010
X   Moderate               Unknown                                      Yes       129     2002
X   Mild                   Unknown                                      No        181     2008
    Moderate               No                                           Yes       127     2002
    Severe                 No                                           No         54     1992
X   Severe                 No                                           No        185     2008
X   Severe                 Unknown                                      No        181     2008
    Moderate               Unknown                                      Yes         H
    Mild                   Unknown   1-st/2-st FVIII:C discrepancy      Yes        78     1996
    Mild/Moderate          No                                           Yes      H, 83    1991
    Moderate               No                                           Yes        51     1992
    Severe                 No                                           No        170     2007
    Severe                 Yes                                          Yes       153     2005
    Moderate               No                                           No        178     2008
    Mild                   No                                           No        178     2008
    Severe                 No                                           Yes       116     2001
    Severe                 Unknown                                      Yes       126     2002
    Mild                   No        1-st/2-st FVIII:C discrepancy      Yes       154     2005
    Mild                   No        1-st/2-st FVIII:C discrepancy      Yes        82     1997
    Mild                   No                                           Yes         H
    Mild                   No                                           No        203     2010
    Moderate               No                                           Yes        64     1994
    Mild                   No                                           Yes       127     2002
    Mild/Moderate/Severe   No                                           No        192
X   Severe                 Unknown                                      Yes        74     1996
X   Severe                 Unknown                                      No        181     2008
    Mild                   Unknown   1-st/2-st FVIII:C discrepancy      Yes      H, 99    1999
    Severe                 No                                           Yes       153     2005
    Mild                   No                                           Yes       127     2002


                                                       Page 177
                              1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Mild            No                                           Yes         H
X   Moderate        Unknown                                      No        181     2008
    Severe          No                                           Yes      H, 152   2005
    Mild            No                                           No        159     2006
    Severe          No                                           Yes       152     2005
    Mild            No                                           Yes         H
    Mild            No                                           Yes      57, 73   1994
X   Severe          Unknown                                      Yes        77     1996
    Mild            No                                           Yes      57, 73   1994
    Moderate        No                                           Yes       137     2003
    Mild            No                                           No        159     2006
X   Mild            Unknown                                      Yes       144     2004
    Moderate        No                                           Yes       127     2002
    Mild            No                                           Yes       130     2002
    Mild            No                                           Yes         H
    Mild/Severe     No                                           Yes        90     1998
    Mild            No                                           Yes      H, 204   2010
    Mild            No                                           Yes      H, 204   2010
    Mild/Moderate   No                                           Yes      H, 162   2007
    Mild            Unknown   1-st/2-st FVIII:C discrepancy      No        175     2008
    Mild            No                                           Yes       127     2002
X   Mild            No                                           Yes      H, 127   2002
    Mild            No                                           No        203     2010
X   Severe          Unknown                                      No        181     2008
    Severe          No                                           No        159     2006
    Severe          Yes                                          Yes       105     2000
    Severe          No                                           No        207     2010
    Mild            No                                           No        203     2010
    Moderate        No                                           No        159     2006
    Moderate        No                                           No        203     2010
    Mild            No                                           No        210     2011
    Mild            No                                           No        198     2008


                                                Page 178
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Moderate                                                            No        178      2008
    Mild                   No                                           Yes        90      1998
X   Severe                 No                                           No        176      2008
    Severe                 No                                           No        169      2007
    Severe                 No                                           No        181      2008
X   Not reported           Unknown                                      Yes         H
    Mild                   No                                           Yes       130      2002
    Moderate               Unknown                                      No        180      2008
    Mild/Moderate/Severe   No                                           Yes      57, 130   1994
    Mild                   No                                           Yes         H
    Severe                 Yes                                          Yes      H, 124    2001
    Mild                   No                                           No        210      2011
    Severe                 Yes                                          Yes      H, 154    2005
X   Mild                   Unknown                                      Yes        68      1995
    Severe                 No                                           Yes        90      1998
    Mild                   No                                           No        162      2007
    Mild                   Unknown                                      Yes       100      1999
    Mild/Moderate          Yes                                          Yes        88      1998
    Mild                   No                                           No        162      2007
    Mild                   No                                           No        159      2006
    Mild                   No                                           Yes       H, 90    1998
    Moderate               No                                           No        159      2006
X   Mild                   Unknown                                      Yes       144      2004
    Mild/Severe            Yes                                          Yes       102      1999
X   Severe                 Unknown                                      No        181      2008
    Moderate               No                                           Yes       116      2001
    Mild/Moderate          No                                           Yes      57, 73    1994
    Mild                   No                                           Yes         H
    Mild                   No                                           Yes      H, 102    1999
X   Severe                 Unknown                                      No        151      2005
    Moderate               No                                           No        210      2011
    Mild                   No                                           Yes       123      2001


                                                     Page 179
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           Yes       95      1998
    Severe            Yes                                          No        159     2006
X   Severe            Unknown                                      No        181     2008
X   Mild              Unknown                                      No        181     2008
    Severe            Unknown                                      Yes       134     2003
    Severe            No                                           Yes       127     2002
    Moderate/Severe   Yes                                          Yes       111     2000
    Mild              Unknown                                      Yes        H
X   Moderate          No                                           Yes       44      1992
    Mild              Unknown                                      Yes       127     2002
    Severe            No                                           Yes       118     2001
    Mild              No                                           No        159     2006
X   Mild              Unknown                                      Yes       127     2002
    Severe            No                                           Yes       152     2005
    Mild              No                                           No        159     2006
    Moderate          No                                           No        193     2009
X   Severe            No                                           No        210     2011
    Not reported      No                                           Yes        H
    Severe            No                                           No        161     2006
    Severe            Yes                                          No        158     2006
    Moderate          No                                           Yes       127     2002
    Severe            No                                           Yes       67      1994
    Severe            No                                           No        209     2011
X   Mild              Unknown                                      No        181     2008
    Mild              No                                           No        159     2006
    Moderate          Unknown                                      Yes       147     2005
    Mild              No        1-st/2-st FVIII:C discrepancy      Yes        H
    Severe            No                                           Yes       122     2001
    Mild              YES                                          Yes      57, 73   1994
X   Mild              No                                           No        185     2008
    Moderate          Yes                                          Yes       87      1998
    Mild              No                                           No        159     2006


                                                  Page 180
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild                   No        Impaired vWf binding in C1         Yes      H, 107   2000
X   Severe                 No                                           No        185     2008
    Mild                   No                                           Yes        85     1997
    Severe/Moderate        No                                           Yes        85     1997
X   Severe                 Unknown                                      No        181     2008
    Mild                   Unknown   Impaired vWf binding in C1         Yes       107     2000
    Mild                   Yes                                          No        203     2010
    Not reported           Unknown                                      Yes       126     2002
    Mild                   Unknown                                      Yes      H, 106   2000
X   Severe                 Unknown                                      Yes       127     2002
    Severe                 Yes                                          No        210     2011
    Moderate/Severe        No                                           Yes        72     1995
    Moderate               No                                           Yes       102     1999
    Mild/Moderate          No                                           Yes        36     1991
    Mild/Moderate/Severe   Yes                                          Yes      42, 59   1991
X   Severe                 Unknown                                      No        181     2008
    Mild                   No                                           No        210     2011
    Severe                 Unknown                                      Yes         5     1987
    Severe                                                              No        187     2009
X   Severe                 No                                           No        176     2008
    Mild                   No                                           Yes       102     1999
    Mild/Moderate          No                                           Yes        36     1991
    Mild                   No                                           No        178     2008
X   Severe                 No                                           No        194     2009
    Moderate               No                                           No        210     2011
    Severe                 Unknown                                      Yes       134     2003
X   Mild                   No                                           No        185     2008
    Mild                   No                                           Yes         H
X   Mild                   Unknown                                      No        181     2008
    Mild                   No                                           No        162     2007
    Mild/Moderate/Severe   No                                           Yes       102     1999
    Moderate/Severe        No                                           No        204     2010


                                                      Page 181
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild              No                                           No        203     2010
    Moderate          No                                           No        198     2010
    Severe            No                                           No        209     2011
    Mild/Moderate     Unknown   Impaired vWf binding in C1         Yes        93     1998
    Severe            Unknown                                      No        167     2007
    Mild              No                                           No        162     2007
X   Mild              Unknown                                      Yes         H
    Mild              No                                           Yes         H
X   Mild              Unknown                                      Yes       127     2002
    Moderate          No                                           No        206     2010
    Mild              No                                           No        178     2008
    Moderate          No                                           No        210     2011
    Moderate/Severe   No                                           Yes      H, 154   2005
    Severe            No                                           No        161     2006
    Mild              No                                           No        210     2011
    Mild              No                                           Yes       155     2005
    Severe            No                                           No        158     2006
    Severe            Unknown                                      No        184     2008
    Mild              No        Impaired vWf binding in C1         Yes       107     2000
    Mild/Moderate     Yes       Impaired vWf binding in C1         Yes      H, 37    1991
    Mild              No                                           No        162     2007
    Moderate          Yes                                          Yes        72     1995
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           No        178     2008
    Mild              Unknown   Impaired vWf binding in C1         Yes        73     1995
X   Severe            No                                           No        185     2008
X   Mild              Unknown                                      Yes       127     2002
    Mild              No                                           No        162     2007
    Mild              No                                           Yes        47     1992
    Mild/Moderate     No                                           Yes       137     2003
    Mild              No                                           No        169     2007
X   Mild              Unknown                                      No        151     2005


                                                 Page 182
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild/Moderate     No        Impaired vWf binding in C1         Yes        42     1991
    Mild              No                                           Yes      57, 73   1994
    Mild              No                                           Yes      57, 73   1994
    Moderate          Unknown                                      Yes       147     2005
    Severe            No                                           No        161     2006
    Severe            No                                           No        161     2006
    Moderate/Severe   No                                           Yes        53     1992
    Mild/Moderate     Yes                                          Yes      57, 94   1994
    Severe            No                                           No        209     2010
    Mild              No                                           Yes        93     1998
    Moderate          No                                           Yes       107     2000
    Moderate          No                                           No        210     2011
X   Moderate          No                                           Yes       153     2005
    Severe            No                                           Yes       107     2000
    Mild              Unknown                                      Yes       126     2002
    Mild              No                                           No        204     2010
    Mild              No                                           Yes       102     1999
    Severe            No                                           No        209     2011
    Severe            No                                           No        148     2005
X   Severe            Unknown                                      Yes        74     1996
    Mild              No                                           Yes       107     2000
    Mild/Moderate     Unknown                                      Yes       133     2002
    Severe            No                                           No        209     2011
    Mild              No                                           No        159     2006
X   Not reported      Unknown                                      Yes       127     2002
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes       102     1999
    Mild              No                                           Yes      H, 130   2002
    Severe            No                                           Yes       127     2002
    Mild              No                                           Yes         H
    Mild              Yes                                          Yes        88     1998
    Mild              No                                           No        159     2006


                                                 Page 183
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         No                                           No        210     2011
    Mild           No                                           Yes        85     1997
    Mild           No                                           Yes      H, 153   2005
    Moderate       No                                           No        174     2008
    Mild           No                                           Yes      H, 153   2005
    Moderate       Unknown                                      Yes        93     1998
    Moderate       No                                           Yes        57     1993
X   Severe         Unknown                                      No        181     2008
    Severe         No                                           No        178     2008
    Severe         No                                           No        178     2008
    Severe         No                                           No        159     2006
X   Severe         Unknown                                      No        181     2008
    Mild           No                                           Yes      H, 107   2000
    Moderate       No                                           Yes         H
    Moderate       No                                           Yes        67     1994
    Severe         No                                           Yes       126     2002
    Severe         Yes                                          Yes        95     1998
    Mild           No                                           No        178     2008
    Severe         No                                           Yes        65     1994
    Mild/Severe    Yes                                          Yes       8, 14   1988
X   Severe         No                                           Yes       105     2000
    Moderate       No                                           Yes        38     1991
    Mild           No                                           Yes       137     2003
    Mild           Unknown                                      Yes       127     2002
X   Mild           Unknown                                      Yes       114     2001
    Mild           Yes                                          No        169     2007
    Moderate       Unknown                                      Yes        36     1991
    Severe         No                                           No        210     2011
X   Not reported   Unknown                                      Yes        67     1994
X   Moderate       Unknown                                      No        181     2008
X   Mild           Unknown                                      No        181     2008
    Moderate       Unknown                                      Yes       139     2003


                                             Page 184
                              1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild/Moderate   Yes                                          Yes        39     1991
X   Severe          Unknown                                      No        181     2008
    Severe          Yes                                          No        161     2006
    Mild            No                                           Yes         H
    Not reported    Unknown                                      Yes       126     2002
    Mild            Yes       Impaired vWf binding in C2         Yes       107     2000
    Mild            No                                           No        204     2010
    Moderate        No                                           No        159     2006
    Severe          No                                           Yes       152     2005
    Mild            No                                           No        210     2011
X   Severe          Unknown                                      No        181     2008
    Mild/Severe     No                                           Yes      H, 169   2007
X   Moderate        Unknown                                      No        181     2008
    Mild            Unknown                                      Yes        83     1997
    Mild            No                                           No        158     2006
    Moderate        No                                           Yes      57, 73   1994
    Severe          No                                           No        161     2006
    SEVERE          No                                           No        210     2011
    Severe          No                                           No        178     2008
X   Severe          No                                           No        176     2008
    Mild            No                                           Yes         H
X   Mild            Unknown                                      No        155     2005
    Mild            No                                           Yes       155     2005
X   Mild            No                                           Yes       153     2005
    Severe          Yes                                          No        178     2008
    Mild/Moderate   Yes                                          Yes        88     1998
    Severe          No                                           Yes         H
X   Severe          Yes                                          Yes        95     1998
    Severe          No                                           Yes         H
    Mild/Moderate   No                                           Yes         H
X   Severe          Unknown                                      Yes        68     1995
    Mild            No                                           No        178     2008


                                               Page 185
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Mild                   No                                           No         185      2008
    Moderate               Unknown                                      Yes        126      2002
    Moderate               No                                           Yes          H
    Moderate               No                                           No         158      2006
    Moderate/Severe        No                                           No         158      2006
    Mild                   Unknown                                      Yes         83      1997
    Moderate               Yes       1-st/2-st FVIII:C discrepancy      Yes       H, 138
    Mild/Moderate          No                                           Yes      116, 123   2001
    Mild                   No                                           No         210      2011
    Mild                   No                                           Yes          H
    Mild                   No                                           No         178      2008
    Severe                 No                                           No         170      2007
    Mild/Severe            No                                           Yes         40      1991
X   Severe                 Unknown                                      No         181      2008
    Mild                   No                                           Yes         36      1991
    Severe                 No                                           No         170      2007
    Mild; severe           No                                           Yes        107      2000
    Mild/Moderate/Severe   No                                           Yes         37      1991
    Mild                   No                                           Yes       57, 73    1994
    Mild                   No                                           Yes        123      2001
    Mild                   No                                           No         159      2006
    Severe                 No                                           Yes        102      1999
    Mild/Moderate/Severe   No                                           Yes          2      1986
    Severe                 No                                           Yes      114, 118   2001
    Mild/Moderate/Severe   No                                           Yes         23      1989
X   Severe                 Unknown                                      No         181      2008
    Severe                 No                                           Yes        152      2005
    Severe                 No                                           Yes      127, 128   2002
    Moderate/Severe        No                                           Yes          H      2000
X   Mild                   No                                           No         198      2010
X   Moderate               Unknown                                      No         183      2008
X   Moderate               No                                           No         185      2008


                                                       Page 186
                                 1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe             No                                           No        178     2008
    Moderate           No                                           Yes       107     2000
    Moderate           No                                           Yes         H
    Severe             No                                           No        178     2008
X   Mild               No                                           Yes       153     2005
X   Severe             Unknown                                      Yes        74     1996
    Severe             No                                           No        210     2011
    Moderate           No                                           Yes        96     1999
    Severe             Unknown                                      Yes         H
    Mild               No                                           No        162     2007
X                                                                   No        195     2006
    Severe             Unknown                                      Yes       126     2002
    Severe             No                                           Yes       137     2003
    Severe             Yes                                          No        159     2006
    Severe             No                                           No        159     2006
    Mild/Moderate      No                                           Yes      H, 102   1999
    Mild               No                                           No        210     2011
    Severe             No                                           No        170     2007
    Mild/Moderate      Unknown                                      Yes      H, 139   2003
    Severe             No                                           Yes        87     1998
    Moderate           No                                           No        203     2010
X   Severe             Unknown                                      No        181     2008
    Severe             No                                           Yes      H, 102   1999
    Moderate                                                        No        178     2008
    Severe             No                                           No        209     2011
    Severe             No                                           No        185     2008
    Severe             Unknown                                      Yes       134     2003
    Severe             No                                           Yes         H
X   Severe             Unknown                                      No        181     2008
    Severe; Moderate   No                                           No        161     2007
    Severe             No                                           Yes       116     2001
    Mild               No                                           No        159     2006


                                                 Page 187
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           No        161     2006
X   Mild              Unknown                                      No        183     2008
    Mild              No                                           No        210     2011
    Severe            No                                           No        161     2006
X   Severe            Unknown                                      Yes       127     2002
    Severe            No                                           Yes       74      1994
X   Moderate          No                                           No        185     2008
    Moderate/Severe   No                                           Yes       130     2002
X   Not reported      Unknown                                      Yes       76      1996
    Severe            No                                           No        193     2009
    Mild              No                                           No        162     2007
    Severe            No                                           No        210     2011
X   Mild              No                                           Yes      57, 73   1994
    Moderate          No                                           Yes       123     2001
    Moderate/Severe   Unknown                                      Yes       147     2005
    Mild              No                                           Yes      H, 83    1997
    Severe            Unknown                                      Yes       147     2005
X   Mild              Unknown                                      Yes       68      1995
X   Mild              Unknown                                      Yes       127     2002
    Mild              Unknown                                      No        179     2008
    Severe            No                                           Yes       74      1994
    Severe            No                                           No        203     2010
    Mild              No                                           No        178     2008
X   Mild              No                                           No        185     2008
    Mild              No                                           No        162     2007
    Mild              Unknown                                      Yes        H
    Mild              Unknown                                      No        186     2009
    Moderate          No                                           Yes       127     2002
X   Mild              Unknown                                      Yes       153     2005
X   Mild              Unknown                                      Yes       37      1991
X   Severe            Unknown                                      Yes       77      1996
    Moderate          No                                           No        203     2010


                                                Page 188
                                     1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe                 No                                           Yes       152     2005
    Mild/Moderate/Severe   No                                           Yes      H, 48    1992
    Moderate               No                                           Yes        17     1988
X   Mild                   No                                           Yes       153     2005
    Moderate               No                                           Yes      57, 73   1994
    Severe                 No                                           No        159     2006
    Severe                 Yes                                          Yes       111     2000
    Severe                 Yes                                          No        171     2007
X   Mild                   No                                           No        151     2005
    Moderate                                                            No        195     2010
    Mild                   No                                           Yes        90     1998
    Severe                 No                                           No        159     2006
    Mild                   No                                           Yes        61     1993
    Moderate               No                                           No        210     2011
    Severe                 No                                           No        158     2006
    Severe                 No                                           Yes       152     2005
X   Mild                   No                                           Yes        44     1992
    Moderate                                                            No        206     2010
    Mild/Severe            No                                           Yes        68     1995
    Moderate/Severe        No                                           Yes        37     1991
    Moderate               Unknown                                      No        180     2008
    Mild/Severe            No                                           Yes      57, 73   1994
    Mild                   No        1-st/2-st FVIII:C discrepancy      Yes      H, 82    1997
    Mild                   No        1-st/2-st FVIII:C discrepancy      Yes      H, 78    1996
    Severe                 No                                           No        209     2011
    Moderate               No                                           Yes       111     2000
    Mild/Severe            Unknown   1-st/2-st FVIII:C discrepancy      Yes        58     1993
    Mild                   No                                           Yes        37     1991
    Severe                 No                                           Yes      H, 204   2010
    Mild/Moderate          No                                           Yes        36     1991
    Mild                   No                                           No        210     2011
    Moderate               No                                           Yes        87     1998


                                                       Page 189
                                   1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild              No                                              Yes       102     1999
    Mild              No                                              No        178     2008
    Severe            No                                              No        178     2008
    Severe            No                                              Yes      H, 116   2001
    Mild              No                                              No        159     2006
    Moderate          No                                              Yes       137     2003
    Mild              Unknown                                         Yes       127     2002
    Moderate/Severe   No                                              Yes        85     1997
    Severe            No                                              Yes        74     1994
X   Severe            Unknown                                         No        181     2008
    Mild              No                                              No        201     2010
    Moderate                                                          No        206     2010
    Severe            Yes                                             No        171     2007
    Severe            Unknown                                         No        166     2007
    Severe            Unknown                                         Yes       137     2003
    Moderate          No                                              No        201     2010
    Mild              No                                              No        162     2007
    Not reported      No                                              Yes       137     2003
    Severe            No                                              Yes        57     1993
    Severe            No                                              No        178     2008
    Severe            Yes          APC cleavage site                  Yes      H, 10    2001
    Severe            No                                              Yes        55     1993
    Severe            No                                              Yes         H
    Severe            Unknown                                         Yes      H,147    2005
    Severe            Unknown                                         Yes       147     2005
X   Not reported      Not reported                                    No        178     2008
    Moderate          No                                              No        178     2008
X   Not reported      Unknown                                         No        157     2006
    Severe            Yes                                             Yes        34     1990
    Severe            No                                              Yes       116     2001
    Severe            No                                              Yes      H, 118   2001
    Severe            No                                              No        203     2010


                                                       Page 190
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Unknown                                      Yes       134     2003
    Severe            No                                           Yes      H, 150   2005
    Severe            Unknown                                      Yes       147     2005
    Severe            No                                           No        178     2008
    Severe            No                                           No        208     2011
    Severe            No                                           Yes         H
    Severe            Yes                                          No        170     2007
    Severe            No                                           No        203     2010
    Moderate          No                                           Yes        44     1992
X   Severe            Unknown                                      No        183     2008
X   Severe            Unknown                                      Yes       118     2001
    Severe            No                                           Yes       102     1999
    Moderate/Severe   Yes                                          Yes        34     1990
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes         H
    Severe            Yes                                          No        210     2011
    Severe            Yes                                          Yes        77     2005
    Severe            Unknown                                      No        179     2008
    Severe            No                                           Yes        92     1998
    Severe            No                                           No        159     2006
    Severe            Yes                                          Yes      H, 126   2002
    Severe            No                                           Yes       102     1999
    Severe            Yes                                          Yes      57, 74   1994
    Severe            No                                           No        210     2011
    Severe            Unknown                                      No        173     2008
    Severe            No                                           No        161     2006
X   Severe            Unknown                                      No        181     2008
    Severe            Unknown                                      Yes       123     2001
    Severe            No                                           Yes         H
    Severe            No                                           No       H, 161   2006
    Not reported      Unknown                                      Yes        81     1997
    Not reported      No                                           Yes       137     2003


                                                Page 191
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Unknown                                      Yes         76      1996
    Severe            No                                           Yes        116      2001
    Severe            Unknown                                      No         179      2008
    Severe            No                                           Yes        130      2002
X   Severe            Unknown                                      No         181      2008
    Moderate/Severe   No                                           Yes       H, 204
    Severe            Yes                                          Yes         34      1990
    Severe            No                                           Yes        116      2001
X   Severe            No                                           Yes          H
X   Severe            No                                           Yes          H
X   Severe            No                                           No         129      2002
X   Severe            Unknown                                      Yes         74      1996
    Severe            No                                           No         210      2011
    Severe            No                                           Yes        140      2004
    Severe            Unknown                                      Yes        126      2002
    Severe            No                                           No       159, 161   2006
    Severe            Yes                                          No         169      2007
    Severe            Unknown                                      Yes        126      2002
X   Severe            Unknown                                      Yes        129      2002
    Severe            No                                           Yes        152      2005
    Severe            No                                           No         209      2011
    Severe            No                                           No         159      2006
    Severe            No                                           Yes        105      2000
    Severe            No                                           No         206      2010
    Severe                                                         No         178      2008
    Severe            Yes                                          No         205      2010
    Severe            No                                           No         158      2006
    Severe            Yes                                          No         210      2011
X   Severe            Unknown                                      No         183      2008
    Severe            No                                           Yes        118      2001
    Severe            No                                           No         154      2005
    Severe            Yes                                          Yes       H, 124    2001


                                                Page 192
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         No                                           No       203   2010
    Severe         Unknown                                      Yes       H
X   Severe         Yes                                          Yes      116   2001
X   Severe         Yes                                          Yes       H
X   Severe         No                                           No       176   2008
    Severe         No                                           No       163   2007
    Severe         Yes                                          No       161   2006
    Severe         Yes                                          Yes      118   2001
    Severe         No                                           Yes      127   2002
    Moderate       No                                           No       206   2010
    Severe         No                                           Yes      102   1999
    Severe         Yes                                          No       161   2006
    Severe         Unknown                                      Yes      126   2002
X   Severe         Unknown                                      Yes       H
    Severe         No                                           No       210   2011
    Severe         No                                           No       206   2010
    Severe         No                                           No       210   2011
X   Severe         Unknown                                      Yes      127   2002
    Severe         No                                           No       210   2011
X   Severe         Unknown                                      Yes      74    1996
    Severe         No                                           Yes      152   2005
X   Severe         Unknown                                      No       181   2008
X   Not reported   Unknown                                      Yes       H
    Severe         Yes                                          No       159   2006
    Severe         No                                           No       174   2008
    Severe         No                                           Yes       H
    Severe         No                                           No       193   2009
    Severe         No                                           Yes      152   2005
    Severe         No                                           No       178   2008
    Severe         No                                           Yes      152   2005
    Severe         No                                           No       206   2010
X   Severe         Unknown                                      No       181   2008


                                             Page 193
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            Yes                                          Yes         90      1998
    Severe            No                                           Yes        122      2001
    Severe            Unknown                                      No         198      2010
X   Severe            Unknown                                      No         181      2008
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           Yes          H
    Severe            No                                           No         161      2006
    Severe            No                                           Yes         90      1998
    Severe            No                                           Yes          H
    Severe            No                                           no         193      2009
    Severe            No                                           No         210      2011
X   Severe            Unknown                                      No         181      2008
    Moderate/Severe   Yes                                          Yes         34      1992
    Severe            No                                           No         203      2010
    Severe            Unknown                                      Yes        126      2002
    Severe            Yes                                          No         178      2008
    Severe            No                                           No         174      2008
X   Severe            Yes                                          Yes          H
X   Severe            Unknown                                      No         183      2008
    Moderate          No                                           No         206      2010
    Severe            No                                           Yes        155      2005
    Severe            No                                           No         159      2006
    Severe            Yes                                          Yes      147, 155   2005
    Severe            No                                           Yes          H
    Severe            No                                           Yes         74      1994
    Severe            Yes                                          Yes        124      2001
    Not reported      Yes                                          Yes          H
    Severe            No                                           Yes        155      2005
    Severe            No                                           No         209      2011
    Severe            Yes                                          Yes       H, 118    2001
    Severe            Yes                                          No         204      2010
    Severe            No                                           Yes        155      2005


                                                Page 194
                                         1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Moderate               Unknown                                              No               179   2008
    Severe                 No                                                   No               209   2011
    Severe                 No                                                   Yes              50    1992
    Severe                 No                                                   Yes               H
    Severe                 No                                                   Yes              87    1998
    Severe                 Yes                                                  No               161   2006
    Severe                 Yes                                                  Yes              102   1999
    Moderate               Unknown                                              No               179   2008
    Severe                 No                                                   No               161   2006
    Mild/Moderate/Severe   No           Thrombin activation site                Yes              10    2001
    Mild                   No                                                   No
                                        Thrombin activation site; FVIII:C 1st/Chro discrepancy   41    1991
    Moderate               No                                                   No               159   2006
    Severe                 Yes                                                  Yes              34    1990
    Severe                 No                                                   No               210   2011
    Severe                 Yes                                                  Yes               H
X   Severe                 Unknown                                              Yes               H
    Severe                 No                                                   Yes              140   2004
    Mild                   Unknown                                              Yes               H
X   Severe                 Unknown                                              Yes              74    1996
    Severe                 No                                                   Yes              74    1994
    Severe                 No                                                   Yes              152   2005
    Severe                 Yes                                                  Yes              153   2005
    Severe                 No                                                   No               209   2011
    Severe                 Unknown                                              No               179   2008
    Severe                 No                                                   Yes              100   1999
X   Not reported           Not reported                                         No               178   2008
    Severe                 No                                                   Yes              152   2005
    Severe                 Yes                                                  Yes              154   2005
    Severe                 No                                                   No               210   2011
    Severe                 Yes                                                  Yes              57    1993
    Severe                 No                                                   No               169   2007
    Moderate               No                                                   Yes               H


                                                          Page 195
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           Yes       153     2005
X   Severe            Unknown                                      No        181     2008
    Severe            Yes                                          Yes        57     1993
    Severe            Unknown                                      No        163     2007
    Severe            Yes                                          Yes      H, 155   2005
    Severe            Yes                                          Yes        95     1998
    Severe            No                                           Yes       152     2005
X   Severe            Unknown                                      No        183     2008
    Severe            Yes                                          Yes       130     2002
    Severe            Yes                                          Yes        59     1993
    Severe            Yes                                          No        208     2011
    Severe            No                                           Yes       130     2002
X   Severe            Unknown                                      No        185     2008
    Severe            Yes                                          Yes         H
    Moderate/Severe   YES                                          Yes         3     1986
    Severe            No                                           Yes        57     1993
    Severe            Yes                                          Yes      42, 44   1991
    Severe            No                                           Yes       130     2002
    Severe            Yes                                          Yes      H,147    2005
    Severe            No                                           Yes        60     1993
    Severe            No                                           Yes       123     2001
X   Severe            No                                           No        185     2008
    Severe            No                                           No        210     2011
    Not reported      Unknown                                      Yes        76     1996
    Severe            No                                           No        126     2002
    Severe            No                                           Yes         H
    Severe            Yes                                          No        148     2005
    Severe            No                                           Yes       153     2005
    Severe            Yes                                          Yes       130     2002
    Severe            No                                           Yes         H
    Severe            No                                           Yes      H, 153   2005
X   Severe            Unknown                                      No        181     2008


                                                Page 196
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         Yes                                          No       203   2010
    Severe         No                                           Yes      124   2001
    Severe         No                                           Yes      107   2000
X   Severe         No                                           Yes      123   2001
    Severe         Yes                                          Yes       3    1986
    Severe         No                                           No       203   2010
X   Severe         No                                           Yes       H
    Severe         Yes                                          Yes      14    1987
    Severe         No                                           No       203   2010
    Severe         No                                           Yes       H
    Severe         Yes                                          Yes      107   2000
    Severe         No                                           No       210   2011
    Severe         No                                           No       210   2011
    Severe         Yes                                          Yes       1    1985
    Moderate       Unknown                                      Yes      147   2005
    Not reported   Yes                                          Yes      137   2003
    Severe         No                                           Yes      102   1999
    Severe         Yes                                          No       209   2011
    Severe         Yes                                          No       171   2007
    Severe         No                                           No       210   2011
    Severe         No                                           Yes      153   2005
    Severe                                                      No       178   2008
    Not reported   No                                           Yes       H
    Severe         No                                           No       170   2007
    Severe         No                                           Yes      74    1994
X   Severe         Unknown                                      No       181   2008
X   Severe         Unknown                                      Yes      89    1998
X   Severe         Yes                                          No       176   2008
    Severe         Yes                                          Yes       1    1985
    Moderate       Unknown                                      Yes      155   2005
    Severe         No                                           No       178   2008
    Severe         No                                           No       209   2011


                                             Page 197
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         No                                           No        201     2010
    Severe         No                                           No        159     2006
X   Severe         Unknown                                      No        183     2008
    Severe         No                                           Yes      H, 153
    Severe         Yes                                          No        210     2011
    Severe         No                                           Yes         H
X   Severe         Unknown                                      No        181     2008
X   Severe         Unknown                                      Yes        67     1994
    Severe         No                                           Yes       114     2001
    Severe         No                                           Yes       116     2001
    Severe         No                                           No        210     2011
    Severe         Unknown                                      Yes       134     2003
    Mild           No                                           No        162     2007
X   Mild           Unknown                                      Yes       144     2004
X   Severe         Unknown                                      No        181     2008
    Mild           No                                           No        162     2007
    Mild           No                                           No        191     2009
X   Severe         Unknown                                      Yes        67     1994
    Not reported   Unknown                                      Yes        76     1996
    Severe         No                                           Yes       155     2005
X   Moderate       Unknown                                      No        181     2008
X   Moderate       Unknown                                      No        181     2008
                   No                                           No        178     2008
    Mild
    Not reported   No                                           Yes       137     2003
                   Yes                                          No        159     2006
    Severe
X   Not reported   Unknown                                      No        165     2007
    Mild           No                                           No        210     2011
    Severe         No                                           Yes        H
    Severe         No                                           Yes       58      1993
    Moderate       No                                           No        178     2008


                                             Page 198
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           Yes      116, 118   2001
X   Severe            Unknown                                      No         181      2008
X   Moderate          Unknown                                      Yes         H
    Severe            No                                           Yes        130      2002
    Moderate          No                                           Yes        130      2002
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           Yes        155      2005
    Severe            No                                           No         170      2007
    Moderate          No                                           Yes         H
    Severe            Yes                                          No         158      2006
    Mild              Unknown                                      Yes        147      2005
    Mild              No                                           Yes         H
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           Yes        153      2005
    Mild              No                                           No         178      2008
    Moderate          No                                           No         162      2007
                      No                                           Yes        130      2002
    Moderate
    Severe                                                         No         187      2009
    Severe            Yes                                          No         161      2006
    Mild              No                                           No         158      2006
    Severe            No                                           No         210      2011
    Severe                                                         No         178      2008
    Severe            No                                           Yes        137      2003
    Severe            Yes                                          No         174      2008
    Mild/moderate     No                                           Yes        117      2001
    Moderate/Severe   No                                           Yes        45       1993
X   Severe            Unknown                                      No         181      2008
X   Severe            Unknown                                      No         181      2008
    Severe            No                                           No         161      2006
    Moderate          Unknown                                      Yes        134      2003
X   Severe            Unknown                                      No         181      2008


                                                Page 199
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe            No                                           No        200    2010
    Severe            Unknown                                      Yes       134    2003
    Severe            Unknown                                      Yes      H,147   2005
    Mild              Unknown                                      Yes       147    2005
    Severe            No                                           Yes        H
    Severe            Yes       Potential splice error             Yes       127    2002
    Severe/Moderate   No                                           No        178    2008
    Severe            No                                           No        169    2007
    Mild              No                                           Yes        H     2004
    Not reported      No                                           Yes        H
    Severe            No        Potential splice error             Yes       123    2001
    Severe            No                                           No        209    2011
    Severe            No        Potential splice error             Yes       155    2005
    Severe            No        Potential splice error             Yes       130    2002
X   Severe            Unknown                                      No        181    2008
    Moderate          Unknown                                      Yes       147    2005
    Not reported      Unknown                                      Yes       76     1996
    Severe            Yes       Potential splice error             No        171    2007
X   Severe            Unknown                                      No        181    2008
    Severe            Yes                                          Yes        H
    Moderate          Unknown                                      Yes       147    2005
X   Severe            Unknown                                      No        181    2008
    Mild              No                                           No        159    2006
    Mild              No                                           No        178    2008
X   Severe            Unknown                                      No        183    2008
X   Severe            No        Potential splice error             No        176    2008
    Moderate          No                                           No        178    2008
    Moderate          No                                           No        178    2008
    Severe            Yes       Potential splice error             No        171    2007
    Moderate          Unknown                                      No        181    2008
    Not reported      No        Potential splice error             Yes       137    2003
    Not reported      Unknown                                      Yes       76     1996


                                                  Page 200
                                  1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe                                                           No        195     2010
X   Not reported   Unknown                                           No        165     2007
    Severe         No                                                Yes       152     2005
    Severe         No                                                No        207     2010
X   Severe         Unknown        Potential splice error             Yes         H
X   Severe         Unknown                                           No        181     2008
X   Severe         Unknown        Potential splice error             Yes         H
X   Mild           Unknown        Potential splice error             Yes        42     1991
    Mild           No                                                Yes        90     1998
X   Severe         Unknown                                           No        181     2008
X   Severe         Unknown                                           No        181     2008
X   Moderate       Unknown                                           Yes        44     1992
    Severe         No             Potential splice error             Yes         H
X   Not reported   Not reported                                      No        178     2008
    Severe         Yes                                               Yes        90     1998
X   Severe         Yes                                               No        185     2008
    Severe         No                                                Yes       105     2000
    Severe                                                           No        195     2010
    Severe         No                                                Yes         1     1985
    Severe         No                                                No        209     2011
X   Severe         No                                                No        198     2010
    Severe         No                                                Yes         H
    Severe         No                                                No        178     2008
    Severe         No                                                No        204     2010
    Mild           No                                                No        178     2008
    Severe         Yes            Potential splice error             Yes      H, 204   2010
X   Severe         Unknown                                           No        181     2008
    Severe         No                                                No        181     2008
    Severe         No                                                Yes         H
    Severe         No                                                No        161     2006
    Severe         No                                                Yes      H, 144   2004
    Severe         No                                                Yes       128     2002


                                                    Page 201
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Severe         No        Potential splice error             No        161     2006
X   Severe         Unknown                                      No        181     2008
X   Severe         Unknown                                      Yes        68     1995
    Not reported   Unknown                                      Yes       126     2002
    Not reported   Unknown                                      Yes       126     2002
    Severe         No                                           Yes        90     1998
    Moderate       No                                           No        178     2008
    Severe         No                                           Yes       155     2005
    Mild           No                                           No        162     2007
X   Severe         No                                           No        185     2008
    Severe         Yes       Potential splice error             No        171     2007
    Moderate       Yes       Potential splice error             No        171     2007
    Mild           No                                           No        178     2008
    Severe         No        Potential splice error             Yes       124     2001
X                            Potential splice error             No        199     2010
    Severe         Yes                                          No        177     2008
    Severe         No        Potential splice error             Yes      H, 130   2002
    Severe         No                                           No        174     2008
    Severe         No        Potential splice error             Yes      H, 87    1998
    Severe         Yes                                          No        198     2010
    Moderate       No                                           No        178     2008
    Mild           No        Potential splice error             Yes        16     1988
X   Not reported   No                                           No        178     2008
    Mild           No                                           No        178     2008
    Severe         No        Potential splice error             Yes       129     2002
X   Mild           Unknown                                      No        181     2008
    Mild           No                                           Yes         H
X   Severe         Unknown                                      No        181     2008
    Severe         No        Potential splice error             Yes       153     2005
    Severe         No        Potential splice error             Yes        64     1994
X   Severe         No        Potential splice error             No        176     2008
    Severe         No                                           No        159     2006


                                               Page 202
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    severe            No                                           No        161     2006
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes       116     2001
    Severe            Unknown   Potential splice error             Yes         H
    Severe            Yes                                          No        210     2011
    Severe            No                                           Yes        80     1997
X   Severe            No        Potential splice error             Yes       141     2004
    Severe            No                                           Yes         H
    Mild              No        Potential splice error             Yes         H
    Severe            Unknown                                      Yes        93     1998
    Mild              No                                           No        210     2011
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           No        209     2011
    Mild/Severe       Unknown                                      Yes       147     2005
    Severe            No                                           Yes         H
    Severe            Yes                                          No        204     2010
X   Severe            No        Potential splice error             Yes       129     2002
X   Moderate/Severe   Unknown   Potential splice error             Yes       129     2002
    Severe            Yes                                          No        159     2006
X   Severe            Unknown                                      No        181     2008
    Severe            Unknown                                      No        210     2011
    Not reported      Unknown                                      Yes       126     2002
    Severe            No        Potential splice error             Yes       101     1999
    Severe            No                                           No        174     2008
    Severe            No                                           No        178     2008
    Severe            Unknown                                      Yes       100     1999
    Severe            No                                           Yes       124     2001
    Not reported      Unknown                                      Yes       126     2002
    Severe            Yes                                          No        210     2011
    Severe            Yes                                          No        210     2011
X   Severe            Unknown                                      No        181     2008
    Severe            No                                           Yes      H, 204   2010


                                                  Page 203
                                1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


X   Severe            No                                           Yes         H
    Not reported      Unknown                                      Yes      H, 126    2002
    Not reported      Unknown                                      Yes        76      1996
    Mild              Yes                                          No         159     2006
    Severe            No        Potential splice error             Yes        39      1991
    Severe            Unknown   Potential splice error             Yes        93      1998
    Severe            Yes                                          No         174     2008
    Moderate          Unknown                                      No         167     2007
    Severe            No                                           No         178     2008
    severe            No                                           No         209     2011
    Moderate          No        Potential splice error             Yes        136     2003
    Mild              Unknown   Potential splice error             Yes        127     2002
    Severe                                                         No         178     2008
    Mild              No                                           Yes         H
    Moderate          No                                           No         178     2008
    Moderate          Unknown                                      No         167     2007
X   Moderate          Yes                                          No         194     2009
    Severe            No        Potential splice error             Yes        67      1994
    Severe            No                                           No         178     2008
    Moderate/Severe   No        Potential splice error             Yes      57, 122   1994
X   Severe            Unknown                                      No         181     2008
    Severe            No                                           No         204     2008
    Mild              No                                           No         159     2006
    Mild              Yes       Potential splice error             No         203     2010
    Severe            No        Potential splice error             No         203     2010
X   Severe            Unknown   Potential splice error             Yes        67      1994
    Severe            Unknown   Potential splice error             Yes        134     2003
X   Mild              Unknown   Potential splice error             Yes         H
    Mild              No        Potential splice error             Yes       H,147    2005
    Mild              No                                           No         163     2007
    Mild/Moderate     No        Potential splice error             Yes      44, 45    1992
    Severe            Yes                                          No         105     2000


                                                  Page 204
                             1728f16d-7517-4aa6-a144-5045b0364f54.xlsx


    Mild           No                                           No       159   2006
    Moderate       Unknown   Potential splice error             Yes      36    1991
    Mild           No        Potential splice error             Yes      155   2005
X   Not reported   Unknown   Potential splice error             Yes       H
    Severe         No                                           No       209   2011
    Mild           No        Potential splice error             Yes      90    1998




                                               Page 205
Field Definitions

HGVS cDNA




HGVS Protein




Mature Protein

Mutation Type

Mechanism

Exon

Codon


Domain


Subtypes


Severe (<1 U/dL)
Moderate (1-5 U/dL)
Mild (>5 U/dL)
Unclassified (no FVIII:C level)

Reported Severity


History of Inhibitor


Comment

Reported in HAMSTeRS
Reference ID

Year Reported
Based on cDNA reference sequence NM_000132.3, in accordance with recommendation
of the Human Genome Variation Society (HGVS) at http://www.hgvs.org/mutnomen/.

Based on protein reference sequence NP_000123.1, in accordance with
recommendations of the Human Genome Variation Society (HGVS) at
http://www.hgvs.org/mutnomen/.

Based on mature processed protein sequence, as used in HAMSTeRS at
http://hadb.org.uk/.
Type of protein change caused by reported mutation.

Type of DNA change caused by the reported mutation.

The exon of F8 where the mutation is located.


The codon of F8 where the mutation is located, based on the mature protein sequence.

Refers to domain where reported mutation is located. Based on domains as defined in
Graw et al. Nat Rev Genet 2005; 6:488-501

Provides more detailed information regarding changes to F8 caused by reported
mutation.

FVIII:C reported as <1 Unit/deciliter or % in one or more patients.
FVIII:C reported as 1-5 Units/deciliter or % in one or more patients.
FVIII:C reported as 5-50 Units/deciliter or % in one or more patients.
FVIII:C level not reported.

Severity reported in publication. May not be in accordance with FVIII:C level by ISTH
standards.

History of inhibitor in one or more patients as reported in HAMSTeRS listing or
referenced publication.

Additional information provided about mutation.

Listed in the Haemophilia A Mutation, Structure, Test and Resource Site at
http://hadb.org.uk/ , as of 3/1/2011.
Refers to the References tab for the first report of the mutation.

Year of first report of mutation.
                                                             References

REF ID   Year                                                      Authors                                                            Reference
                HAMSTeRS (TheHaemophilia A Mutation, Structure, Test and Resource Site, http://hadb.org.uk,             Unpublished
  H
                accessed 3/1/2011
  1      1985   Gitschier J, Wood WI, Tuddenham EGD, Shuman MA, Goralka TM, Chen EY, Lawn RM                            Nature 315, 427-430
  2      1986   Gitschier J, Wood WI, Shuman MA, Lawn RM                                                                Science 232, 1415-1416
  3      1986   Youssoufian H, Kazazian HH, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE                  Nature 324, 380-382
  4      1987   Grover H, Phillips MA, Lillicrap DP, Giles AR, Garvey MB, Teitel J, Rivard G, Blanchette V, White BN,   Clin Genet 32, 10-19
                Holden JJA
  5      1987   Levinson B, Janco R, Phillips J, Gitschier J                                                            Nucl Acids Res 15, 9797-9805
  6      1987   Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian HH                            Proc Natl Acad Sci USA 84, 3772-3776
  7      1988   Bardoni B, Sampietro M, Romano M, Crapanzano C, Mannucci PM, Camerino G                                 Hum Genet 79, 86-88
  8      1988   Bernardi F, Legnani C, Volinia S, Patracchini P, Rodorigo G, De Rosa V, Marchetti G                     Hum Genet 78, 359-362
  9      1988   Cutting GR, Antonarakis SE, Youssoufian H, Kazazian HH                                                  Mol Biol Med 5, 173-184
 10      1988   Gitschier J, Kogan S, Levinson B, Tuddenham EGD                                                         Blood 72, 1022-1028
 11      1988   Higuchi M, Kochhan L, Olek K                                                                            Mol Biol Med 5, 23-27
 12      1988   Kazazian HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE                               Nature 332, 164-166
 13      1988   Mikami S, Nishimura T, Naka H, Kuze K, Fukui H                                                          Jpn J Hum Genet 33, 401- 407
 14      1988   Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH                                          Amer J Hum Genet 42, 718-725+D33
 15      1988   Youssoufian H, Kasper CK, Phillips DG, Kazazian HH, Antonarakis SE                                      Hum Genet 80, 143-148
 16      1988   Youssoufian H, Kazazian HH, Patel A, Aronis S, Tsiftis G, Hoyer LW, Antonarakis SE                      Genomics 2, 32-36
 17      1988   Youssoufian H, Wong C, Aronis S, Platokoukis H, Kazazian HH, Antonarakis SE                             Amer J Hum Genet 42, 867-871
 18      1989   Arai M, Inaba H, Higuchi M, Antonarakis SE, Kazazian HH, Fujimaki M, Hoyer LW                           Proc Natl Acad Sci USA 86:4277-4281
 19      1989   Bernardi F, Volinia S, Patracchini P, Gemmati D, Boninsegna S, Schwienbacher D, Marchetti G             Brit J Haematol 71, 271-276
 20      1989   Chan V, Chan TK, Tong TMF, Todd D                                                                       Blood 74, 2688-2691
 21      1989   Gitschier J, Levinson B, Lehesjoki AE, de la Chapelle A                                                 Lancet i, 273-274
 22      1989   Higuchi M, Kochhan L, Schwaab R, Egli H, Brackmann HH, Horst J, Olek K                                  Blood 74, 1045-1051
 23      1989   Inaba H, Fujimaki M, Kazazian HH, Antonarakis SE                                                        Hum Genet 81, 335-338
 24      1989   Shima M, Ware J, Yoshioka A, Fukui H, Fulcher CA                                                        Blood 74, 1612-1617
 25      1989   Wehnert M, Herrmann FH, Wulff K                                                                         Disease Markers 7, 113-117
 26      1990   Broecker-Vriends AHJT, Briet E, Dreesen JCFM, Bakker G, Reitsma P, Pannakoek H, van de Kamp JJP,        Hum Genet 85, 288-292
                Pearson PL
 27      1990   Casula L, Murru S, Pecorara M, Ristaldi MS, Restagno G , Mancuso G, Morfini M, DeBiasi R, Baudo F,      Blood 75, 662- 670
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 28      1990   Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper CK, Kazazian HH, Antonarakis SE                  Genomics 6, 65-71

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29   1990   Kogan S, Gitschier J                                                                                       Proc Natl Acad Sci USA 87, 2092-2096
30   1990   Levinson B, Lehesjoki AE, de la Chapelle A, Gitschier J                                                    Am J Hum Genet 46, 53-62
31   1990   Millar DS, Steinbrecher RA, Wieland K, Grundy CB, Martinowitz U, Krawczak M, Zoll B, Whitmore D,           Hum Genet 86, 219-227
32   1990   Murru S, Casula L, Pecorara M, Mori P, Cao A, Pirastu M                                                    Genomics 7,115-118
33   1990   Nafa K, Meriane F, Reghis A, Benabadji M, Demenais F, Guilloud-Bataille M, Sultan Y, Kaplan JC, Delpech    Hum Genet 84, 401-405
            M
34   1990   Pattinson J, Millar DS, McVey J, Grundy CB, Wieland K, Mibashan RS, Marinowitz U, Tan-Un K, Goossens       Blood 76, 2242- 2248
            VM, Sampietro M, Mannucci PM, Krawczak M, Reiss J, Zoll B, Whitmore D, Bowcock S, Wensley R, Ajani
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35   1990   Traystman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian HH                                            Genomics 6, 293-301
36   1991   Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Petersen EE, Olek K, Inaba H, Kazazian HH                 Proc Natl Acad Sci USA 88, 8307-8311
37   1991   Higuchi M, Kazazian HH, Kasch L, Warren TC, McGinniss MJ, Phillips JA, Kasper C, Janco R, Antonarakis SE   Proc Natl Acad Sci USA 88, 7405-7409
38   1991   Millar DS, Zoll B, Martinowitz U, Kakkar VV, Cooper DN                                                     Hum Genet 87, 607-612
39   1991   Naylor JA, Green PM, Montandon JA, Rizza CR, Giannelli F                                                   Lancet 337, 635- 639
40   1991   Paynton C, Sarkar G, Sommer SS                                                                             Hum Genet 87, 397-400
41   1991   Schwaab R, Ludwig M, Kochhan L, Oldenburg J, McVey JH, Egli H, Brackmann HH, Olek K                        Thromb Res 61, 225-234
42   1991   Tuddenham EGD, Cooper DN, Gitschier J, Higuchi M, Hoyer LW, Yoshioka A, Peake IR, Schwaab R, Olek K,       Nucl Acids Res 19, 4821-4833
            Kazazian HH, Lavergne JM, Giannelli F, Antonarakis SE
43   1992   Aly AM, Higuchi M, KasperCK, Kazazian HH, Antonarakis SE, Hoyer LW                                         Proc Natl Acad Sci USA 89, 4933-4937
44   1992   Diamond C, Kogan S, Levinson B, Gitschier J                                                                Hum Mut 1, 248-257
45   1992   Economou EP, Kazazian HH, Antonarakis SE                                                                   Genomics 13, 909-911
46   1992   Figueiredo MS, Bernardi F, Zago MA                                                                         Eur J Haematol 48, 152-154
47   1992   Jonsdottir S, Diamond C, Levinson B, Magnusson S, Jensson O, Gitschier J                                   Hum Mut 1, 506-508
48   1992   Krepelov A, Vorlova Z, Acquila M, Mori P                                                                   Brit J Haematol 81, 458
49   1992   Krepelov A, Vorlova Z, Zavadil J, Bodika R                                                                 Brit J Haematol 81, 271-276
50   1992   Lavergne JM, Bahnak BR, Vadaud M, Laurian Y, Meyer D                                                       Nouv Rev Fr Hematol 34, 85-91
51   1992   Nafa K, Baudis M, Deburgrave N, Bardin JM, Sultan Y, Kaplan JC, Delpech M                                  Hum Mutation 1, 77-78
52   1992   Naylor JA, Green PM, Rizza CR, Giannelli F                                                                 Lancet 340, 1066-1067
53   1992   Reiner AP, Stray SM, Thompson AR                                                                           Thromb Res 66, 93-99
54   1992   Reiner AP, Thompson AR                                                                                     Hum Genet 89, 88-94
55   1993   Acquila M, Caprino D, Pecorara M, Baudo F, Morfini M, Mori PG                                              Thromb Haemost 69:392-393
56   1993   Lakich D, Kazazian HH, Antonarakis SE, Gitschier J                                                         Nature Genet 5, 236-241
57   1993   Lin SW, Lin SR, Shen MC                                                                                    Genomics 18, 496-504
58   1993   McGinniss MJ, Kazazian HH, Hoyer LW, Bi L, Inaba H, Antonarakis SE                                         Genomics 15, 392-398
59   1993   Naylor J, Brinke A, Hassock S, Green PM, Giannelli F                                                       Hum Molec Genet 2, 1773-1778
60   1993   Naylor JA, Green PM, Rizza CR, Giannelli F                                                                 Hum Molec Genet 2, 11-17
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61   1993   Pieneman WC, Reitsma PH, Briet E                                                                        Thromb Haemost 69, 473-475
62   1993   Schwaab R, Oldenburg J, Tuddenham EGD, Brackmann HH, Olek K                                             Brit J Haematol 83, 450-458
63   1994   Bidichandani SI, Schiach CR, Lanyon WG, Connor JM                                                       Hum Mol Genet 3, 651-653
64   1994   David D, Moreira I, Lalloz MRA, Rosa HAV, Schwaab R, Morais S, Diniz MJ, de Deus G, Campos M, Lavinha   Blood Coag Fibrin 5, 257-264
            J, Johnson D, Tuddenham EGD
65   1994   Figueiredo MS, Tavella MH, Simoes BP                                                                    Hum Genet 94, 473-478
66   1994   Johnson DJD, Pemberton S, Acquila M, Mori PG, Tuddenham EGD, O'Brien DP                                 Thromb Haemos 71, 428-33
67   1994   Tuddenham EGD, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM,     Nucl Acids Res 22, 4851-4868
            Hoyer LW, Yoshioka A, Peake IR, Olek K, Kazazian HH, Lavergne JM, Giannelli F, Antonarakis SE, Cooper
            DN
68   1995   Arruda VR, Pieneman WC, Reitsma PH, Deutz-Terlow PP, Annichino-Bizzacchi JM, Briet E, Costa FF          Blood 86:3015-3020

69   1995   Bidichandani SI, Lanyon WG, Schiach CR, Lowe GDO, Connor JM                                             Hum Genet 95, 531-538
70   1995   David D, Tavares A, Lavinha J                                                                           Hum Genet 95, 109-111
71   1995   Nafa K, Meriane F, Chellali T, Benabadji M, Reghis A, Viemont M, Kaplan JC, Delpech M                   Hum Mutation 5, 357-359
72   1995   Pieneman WC, Deutz-Terlouw PP, Reitsma PH, Briet E                                                      Brit J Haematol 90, 442-449
73   1995   Schwaab R, Oldenburg J, Schwaab U, Johnson DJD, Schmidt W, Olek K, Brackman HH, Tuddenham EGD           Brit J Haematol 91, 458-464

74   1996   Becker J, Schwaab R, Moller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K,               Am J Hum Genet 58, 657-670
            Oldenburg J
75   1996   Brinke A, Tagliavacca L, Naylor J, Green P, Giangrande P, Gianelli E.                                   Hum Mol Genet 5, 1945-1951
76   1996   Chan V, Pang A, Chan TPT, Chan VWY, Chan TK                                                             Brit J Haematol 93, 451-456
77   1996   Colvin BT, Tagliavacca L, Rowley G                                                                      Haemophilia 2, Suppl 1, 60 (Abstract
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78   1996   Rudzki Z, Duncan E, Casey GJ, Neumann M, Favoloro EJ, Lloyd JV                                          Brit J Haematol 94, 400-406
79   1996   Van de Water NS, Williams R, Browett PJ                                                                 Haemophilia 2, Suppl 1, 59 (Abstract
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80   1997   Lambert CT, Layton DM, Lalloz MRA                                                                       Brit J Haem 97 Suppl 1, 183
81   1997   Liu J, Zhang Y, Wang, Huang W, Cao W, Wang Z, QU B, Wang H, Shao H, Wang Z, Chen L, Huang W             Chin J Hematol 18, 464-467

82   1997   Mazurier C, Gaucher C, Jorieux S, Parquet-Gernez A                                                      Brit J Haematol 96, 426-427
83   1997   Morichika S, Shima M, Kamisue S, Tanaka I, Imanaka Y, Suzuki H, Shibata H, Pemberton S, Gale K, McVey   Brit J Haematol 98, 901-906
            J, Tuddenham EGD, Yoshioka A
84   1997   Schwaab R, Oldenburg J, Lalloz MRA, Schwaab U, Pemberton S, Hanfland P, Brackman HH, Tuddenham          Hum Genet 101, 323-332
            EGD, Michaelides K
85   1997   Tavassoli K, Eigel A, Dworniczak B, Valtseva E, Horst J                                                 Human Mutation 1-3
86   1997   Tavassoli K, Eigel A, Pollmann H, Horst J                                                               Human Genetics 100, 508-511
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87    1998   Freson K, Peerlinck K, AguirreT, Arnout J, Vermylen J, Cassiman JJ, Matthijs G                         Human Mutation 11, 470-479
88    1998   Hay CR, Ludlam C, Colvin BT, Hill FG, Preston FE, Wasseem N, Bagnall R, Peake IR, Berntorp E, Mauser   Thromb Haemost 79, 762-6
             Bunshoten EP, Fijvandraat K, Kasper CK, White G, Santagostino E
89    1998   Laprise SL, Mak EK, Killoran KA, Layman LC, Gray MR                                                    Human Mutation 12, 393-402
90    1998   Liu M, Murphy MEP, Thompson AR                                                                         Brit JHaemtol 103, 1051-1060
91    1998   Maugard C, Tuffery S, Aguilar-Martinez P, Schved JF, Gris JC, Demaille J, Claustres M                  Human Mutation 11, 18-22
92    1998   Strmecki L, Benedik-Dolnicar M, Komel R                                                                Hum Hered 48, 119-120
93    1998   Tavassoli K, Eigel A, Wilke K, Pollmann H, Horst J                                                     Human Mutation 12, 301-303
94    1998   Theophilus BDM, Enayat MS, Higuchi M, Kazazian HH, Antonarakis SE, Hill FGH                            Human Mutation 11, 334.
95    1998   Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright J, Peake IR, Goodeve AC             Thromb Haemost 79, 723-6
96    1999   Akkarapatumwong V, Oranwiroon S, Pung-amritt P, Treesucon A, Thanootarakul P, Veerakul G,              Human Mutation 15, 117-118
97    1999   Bagnall RD, Waseem NH, Green PM, Colvin B, Lee C, Gianelli F                                           Brit J Haematol 107, 766-771
 98   1999   Casey GJ, Rodgers SE, Hall JR, Rudzki Z, Lloyd JV                                                      Brit J Haematol 107, 560-562
 99   1999   Keeling DM, Sukhu K, Kemball-Cook G, Waseem N, Bagnall R, Lloyd JV                                     Brit J Haematol 105, 1123-1126
100   1999   Moller-Morlang K, Tavassoli K, Eigel A, Pollmann H, Horst J                                            Hum Mutat Mutation in Brief Online
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101   1999   Strmecki L, Benedik-Dolnicar M, Vouk V, Komel R                                                        Hum Mutat, Mutation in Brief Online
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102   1999   Waseem NH, Bagnall R, Green PM, Gianelli F                                                             Thromb Haemost 81, 900-905
103   1999   Zhang YZ, Liu JX, Shao HZ, Chi ZW, Wang HL, Chen SJ, Chen Z, Wang ZY, Huang W                          Genetic Analysis 15, 205-207
104   2000   Akkarapatumwong V, Intorasoot S, Oranwiroon S, Thanootarakul P, Pung-amritt P, Veerakul G,             Hum Mutat Mutation in Brief #381
             Mahasandana C, Panyim S, Yenchitsomanus P
105   2000   Goodeve AC, Williams I, Bray GL, Peake IR                                                              Thromb Haemost 83:844-8
106   2000   Jacquemin M, Lavend'homme R, Benhida A, Vanzieleghem B, d'Oiron R, Lavergne JM, Brackmann HH,          Blood 96, 958-965
             Schwaab R, VandenDriessche T, Chuah MKL, Hoylaerts M, Gilles JGG, Peerlinck K, Vermylen J, Saint-
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107   2000   Liu M, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR                     Blood 96, 979-987
108   2000   Roelse JC, de Laaf RTM, Timmermans SMH, Peters M, van Mourik JA, Voorberg J                            Brit J Haematol 108, 241-246
109   2000   Schwaab R, Oldenburg J, Kemball-Cook G, Albert T, Juhler C, Hanfland P, Ingerslev J                    Brit J Haematol 109, 523-8
110   2000   Shibata M, Shima M, Morichika S, McVey J, Tuddenham E, Tanaka I, Suzuki H, Nogami K, Minamoto Y,       Thromb Haemost 84, 442-8
             Hato T, Saenko E, Scandella D, Yoshioka A
111   2000   Tagariello G, Belvini D, Salviato R, Are A, de Biasi E, Goodeve A, Davoli P                            Haematologica 85, 525-529
112   2000   Vidal F, Farssac E, Altisent C, Puig L, Gallardo D                                                     Hum Hered 50, 266-267
113   2001   Bauduer F, Ducout L, Bendriss P, Falaises B, Lavergne JM                                               Haemophilia 7, 419-421
114   2001   Bogdanova N, Lemcke B, Markoff A, Pollmann H, Dworniczak B, Eigel A, Horst J                           Hum Mutat Mutation in Brief 461 Online


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115   2001   Goodeve AC, Hinks JL, Nesbitt IM, Sampson B, Burgess C, Khair K, Leisner R, Kitchen S, Peake IR, Makris   Thromb Haemost 86, Suppl 1, P1370
             M
116   2001   Ivaskevicius V, Jurgutis R, Rost S, Muller A, Schmitt C, Wulff K, Herrmann FH, Muller CR, Schwaab R,      Brit J Haematol 112, 1062-1070
             Oldenburg J
117   2001   Jacquemin M, Pratt K, Spiegel C, Stoddard B, Desqueper B, Lavend'homme R, Benhida A, Gilles JG,           Thromb Haemost 86, Suppl 1, OC194
             Peerlinck K, Vermylen J, d'Oiron R, Saint-Remy JM, Lavergne JM
118   2001   Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K       Am J Hum Genet 69, 75-87

119   2001   Nakaya S, Liu ML, Thompson AR                                                                             Brit J Haematol 115, 977-982
120   2001   Nesbitt IM, Hinks JL, Sampson B, Kitchen S, Peake IR, Makris AC, Goodeve AC                               Thromb Haemost 86, Suppl 1, OC195
121   2001   Sukarova E, Dimovski AJ, Tchakarova P, Petkov EH, Efremov GD                                              Acta Haematol 106, 126-9
122   2001   Theophilus BDM, Enayat MS, Williams MD, Hill FGH                                                          Haemophilia 7, 381-391
123   2001   Timur AA, Gurgey A, Aktuglu G, Kavalki K, Canatan D, Olek K, Caglayan SH                                  Haemophilia 7, 475-481
124   2001   Vidal F, Farssac E, Attisent C, Puig L, Gallardo D                                                        Thromb Haemost 85, 580-583
125   2002   Bogdanova N, Markoff A, Pollmann H, Nowak-Gottl U, Eisert R, Dworniczak B, Eigel A, Horst J               Hum Mutat Mutation in Brief 533 Online

126   2002   Citron M, Godmilow L, Ganguly T, Ganguly A                                                                Human Mutation 20, 267-274
127   2002   Cutler JA, Mitchell MJ, Smith MP, Savidge GF                                                              Human Mutation 19, 274-278
128   2002   Frusconi S, Passerini I, Girolami F, Masieri M, Linari S, Longo G, Morfini M, Torricelli, F               Human Mutation: Mutation in Brief #523
                                                                                                                       Online
129   2002   Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J                                                      Thromb Haemost 88, 357-60
130   2002   Liu ML, Nakaya S, Thompson AR                                                                             Thromb Haemost 87, 273-276
131   2002   Mumford AD, Laffan M, O'Donnell J, McVey JH, Johnson DJD, Manning R, Tuddenham EGD, Kemball-              Brit J Haematol 118, 589-594
             Cook G
132   2002   Salviato R, Belvini D, Are A, Radossi P, Tagariello G                                                     Haemophilia 8, 17-21
133   2002   Sukarova-Stefanovska E, Zisovski N, Muratovska O, Kostova S, Efremov GD                                   Haemophilia 8, 715-718
134   2003   Bicocchi MP, Pasino M, Lanza T, Bottini F, Boeri E, Mori PG, Molinari AC, Rosano C, Acquila M             Brit J Haematol 122, 810-817
135   2003   Ganguly A, Dunbar T, Chen P, Godmilow L, Ganguly T                                                        Hum Genet 113, 348-352
136   2003   Gau JP, Hsu HC, Chau WK, Ho HC                                                                            Ann Hematol 82, 175-177
137   2003   Habart D, Kalabova D, Novotny M, Vorlova Z                                                                J Thromb Haemost 1, 773-781
138   2003   Sharathkumar A, Lillicrap D, Blanchette VS, Kern M, Leggo J, Stain AM, Brooker L, Carcao MD               J Thromb Haemost 1:128-36
139   2003   Yenchitsomanus P, Akkarapatumwong V, Pung-Amritt P, Intorasoot S, Thanootarakul P, Oranwiroon S,          Haemophilia 9, 179-186
             Veerakul G, Mahasandana C
140   2004   Acquila M, Pasino M, Lanza T, Molinari AC, Caprino D, Bottini F, Bicocchi, MP                             Haemophilia 10:744-746
141   2004   Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Rosano C, Acquila M                               Thromb Haemost 93, 391-2 (letter)
142   2004   De Brasi C, Rossetti L, Goodeve A, Larripa I                                                              Haemophilia 10 (Suppl 3), 73-78 abstract
                                                                                                                       PO 13
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143   2004   Lombardi AM, Cabrio L, Zanon E, Sartori MT, Navaglia E, Plebani M, Girolami A                                Clin Appl Thromb Hemost 10, 61-4
144   2004   Lombardi AM, Zanon E, Sartori MT, Cabrio L, Vettore S, Girolami A                                            Haemophilia 10 (Suppl 3), 73-78 abstract
                                                                                                                          PO 21
145   2004   Nakaya S, Hsu TC, Geraghty SJ, Manco-Johnson MJ, Thompson AR                                                 J Thromb Haemost 2, 1941-45
146   2004   Rossetti LC, Goodeve A, Larripa IB, De Brasi, CD                                                             Hum Mutat Mutation in Brief Online
                                                                                                                          #759
147   2005   Ahmed R, Ivaskevicius V, Kannan M, Seifried E, Oldenburg, J, Saxena R                                        Haematologica 90, 283-284
148   2005   Astermark J, Oldenburg J, Escobar M, White GC, Berntorp E, MIBS Study Group                                  Haematologica 90, 924-30
149   2005   Bicocchi MP, Migeon BR, Pasino M, Lanza T, Bottini F, Boeri E, Molinari AC, Corsolini F, Moreiro C,          Eur J Hum Genet 13, 635-640
             Acquila M
150   2005   Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Caprino D, Rosano C, Acquila M                       Am J Hematol 78, 117-122
151   2005   Boekhorst J, Verbruggen B, Lavergne JM, et al                                                                Brit J Haematol 131, 109-17
152   2005   Bogdanova N, Markoff A, Pollmann H, Nowak-Gottl U, Eisert R, Wermes C, Todorova A, Eigel A,                  Hum Mutat 26, 249-254
             Dworniczak B, Horst J
153   2005   Fernandez-Lopez O, Garcia-Lozano JR, Nunez-Vazquez R, Perez-Garrido R, Nunez-Roldan A                        Haematologica 90, 707-710
154   2005   Hill M, Deam S, Gordon B, Dolan G                                                                            Haemophilia 11, 133-141
155   2005   Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A                                           Haemophilia 11, 481-491
156   2005   Schneppenheim R, Schroder J, Obser T, Oyen F, Oldenburg J                                                    J Thromb Haemost 3, Suppl 1
157   2006   Berber E, Fidanci IC, Un C, El-Maarri O, Aktuglu G, Gurgey A, Celkan T, Meral A, Oldenburg J, Graw J, Akar   Haemophilia 12, 398-400
             N, Caglayan H
158   2006   David D, Ventura C, Moreira I, Diniz MJ, Antunes M, Tavares A, Araujo F, Morais S, Campos M, Lavinha J,      Haematologica 91, 840-843
             Kemball-Cook G
159   2006   Guillet B, Lambert T, d’Oiron R, Prouelle V, Plantier JL, Rafowwicz A, Peynet J, Costa JM, Bendelac L,       Hum Mut 27, 676-85
             Laurian Y, Lavergne JM
160   2006   Rossetti L, Radic P, Larripa I, De Brasi C                                                                   Haemophilia 12 (Suppl 2), abstract
                                                                                                                          PO490
161   2006   Vinciguerra C, Zawadzki C, Darguard Y, Pernod G, Berger C, Nougier C, Negrier C                              Thromb Haemost 95, 593-9
162   2007   Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Gottl U,               Hum Mut 28, 54-60
163   2007   Castaman G, Giacomelli SH, Ghiotto R, Boseggia C, Pojani K, Bulo A, Madeo D, Rodeghiero F                    Haemophilia 13, 311-6
164   2007   Fernandez-Lopez O, Garcia-Lozano JR, Nunez-Vazquez R, Perez-Garrido R, Nunez-Roldan A                        Haemophilia 13, 682-684
165   2007   Garcia-Lozano JR                                                                                             Hum Genet 122, 413-20
166   2007   Han JY, Lee JN, Lee SY, Kim IJ, Kim CM                                                                       Haemophilia 13, 331-3
167   2007   Laurie AD, Smith MP, George PM                                                                               Clin Chem 53, 2211-4
168   2007   Onsori H, Hosseinpour MA, Montaser-Kouhsari S, Asgharzadeh M, Hosseinpour AA                                 Pak J Biol Sci 10:4299-302.
169   2007   Repesse Y, Slaoui M, Ferrandiz D, Gautier P, Costa C, Costa JM, Lavergne JM, Borel-Derlon A                  J Thromb Haemost 5, 1469-76



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170   2007   Rossetti LC, Radic CP, Candela M, Bianco RP, de Tezanos Pinto M, Goodeve A, Larripa IB, De Brasi C         Haematologica 92, 842-5

171   2007   Salviato R, Belvini D, Radossi P, Sartori R, Pierobon F, Zanotto D, Zanon E, Castaman G, Gandini G,        Haemophilia 13, 361-72
             Tagariello G
172   2007   Sheen CR, Jewell UR, Morris CM, Brennan SO, Ferec C, George PM, Smith MP, Chen JM                          Hum Mut 28, 1198-1206
173   2008   Abu-Amero KK, Hellani A, Al-Mahed M, Al-Sheikh I                                                           Haemophilia 14, 484-8
174   2008   Casana P, Cabrera N, Cid AR, Haya S, Beneyto M, Espinos C, Cortina V, Dasi MA, Aznar JA                    Haematologica 93, 1091-4
175   2008   Cid AR, Calabuig M, Cortina V, Casana P, Haya S, Moret A, Cabrera N, Aznar JA                              Haemophilia 14, 1049-54
176   2008   Djambas Khayat C, Salem N, Chouery E, Corbani S, Moix I, Nicolas E, Morris MA, de Moerloose,               Haemophilia 14, 709-16
             Megarbane A
177   2008   Fidanci ID, Kavakli K, Ucar C, Timur C, Meral A, Kilinc Y, Sayilan H, Kazanci E, Caglayan SH               Blood Coag Fibrin 19, 383-8
178   2008   Green PM, Bagnall RD, Waseem NH, Gianelli F                                                                Brit J Haematol 143, 115-28
179   2008   Lin SY, Su YN, Hung CC, Tsay W, Chiou SS. Chang CT, Ho HN, Lee CN                                          BMC Medical Genetics 9, 53
180   2008   Ma GC, Chang SP, Chen M, Kuo SJ, Chang CS, Shen MC                                                         Haemophilia 14, 787-95
181   2008   Margaglione M, Castaman G, Morfini M, Rocino A, Sanagostino E, Tagariello G, Tagliaferri AR, Zanon E,      Haematologica 93, 722-8
             Bicocchi MP, Castaldo G, Peyvandi F, Santacroce R, Torricelli F, Grandone E, Mannucci PM, and the AICE-
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182   2008   Rost S, Loffler S, Pavlova A, Muller CR, Oldenburg J                                                       J Thromb Haemost 6, 1996-9
183   2008   Sanna V, Zarrilli F, Nardiello P, D'Argenio V, Rocino A, Coppola A, DiMinno G, Castaldo G                  Haemophilia 14, 796-803
184   2008   Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli SH, Lombardi AM, Minuti B,         J Hum Genet 53, 275-84
185   2008   Riccardi F, Salviato R, Tagliabue L, Grandone Cornet M, Domenech M, Baiget M, Fuentes-Prior P, Tizzano
             Vencesla A, Corral-Rodriguez MA,Baema M, E, Margaglione M, The AICE-Genetics Study Group                   Blood 111, 3468-78
             EF
186   2009   Castaman G, Mancuso ME, Giacomelli SH, Tosetto A, Santagostino E, Mannucci PM, Rodeghiero F                J Thromb Haemost 7, 1824-31

187   2009   Hwang SH, Kim HJ, Lim JA, Kim HC, Kim HS                                                                   Haemophilia 15, 1311-7
188   2009   Niazi G, Altaf M, Hussain R, Iqbal S                                                                       Hum Genet 126, 334
189   2009   Niazi G, Shaukat Z, Masood K,, Hussain R                                                                   Hum Genet 126, 332
190   2009   Owaidah TM, Aba Alkhail H, Al Zahrani H, Al Musa A, Al Saleh M, Abu Riash M, Alodaib A, Abu Amero K        Blood Coag Fibrin 20, 415-8

191   2009   Riccardi F, Rivolta GF, Franchini M, Pattacini C, Neri TM, Tagliaferri A                                   J Thromb Haemost , 193-5
192   2009   Schneppenheim R, Schroder J, Obser T, Oyen F, Schneppenheim S, Oldenburg J                                 Hamostaseologie 29, 158-60
193   2009   Sirocova N, Tsourea V, Vicol M, Barbacar N, Nakaya SM, Thompson AR, Pratt KP                               Haemophilia 15, 942-51
194   2009   Viel KR, Ameri A, Abshire TC, Iyer RV, Watts RG, Lutcher C, Channell C, Cole SA, Fernstrom KM, Nakaya S,   New Eng J Med 360, 1618-1627
             Kasper CK, Thompson AR, Almasy L, Howard TE
195   2010   Abdul-Ghafar A, Bogdanova N, Lim LC, Zhao Y, Markoff A, Tien SL                                            Haemophilia 16, 551-3
196   2010   Awidi A, Ramahi M, Alhattab D, Mefleh R, Dweiri M, Bsoul N, Magablah A, Arafat E, Barqawi M, Bishtawi      Haemophilia 16, 136-42
             M, Haddadeen E, Falah M, Tarawneh B, Swaidan S, Fauori S
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197   2010   Borchiellini A, Bicocchi MP, Aguzzi C, Valpreda A, Valeri F, Beggiato E, Acquila M, Schinco PC              Haemophilia 16, 554-5
198   2010   Chen YC, Hu SH, Cheng SN, Chao TY                                                                           Haemophilia 16, 536-44
199   2010   Fabiano C, Niceta M, Sammarco P                                                                             Hum Genet 127, 113
200   2010   Hua B, Yan Z, Liang Y, Yan M, Fan L, Li K, Xiao B, Liu J, Zhao Y                                            Chin Med J 123, 305-10
201   2010   Nair PS, Shetty S, Kulkarni B, Ghosh K                                                                      Clin Chim Acta 411, 2004-8
202   2010   Niceta M, Fabiano C, Sammarco P                                                                             Hum Genet 127, 115
203   2010   Reitter S, Sturn R, Horvath B, Freitag R, Male C, Muntean W, Streif W, Pabinger I, Mannhalter C, the        Thromb Haemost 104, 78-85
             Austrian Molecular Haemophilia Study Group
204   2010   Riccardi F, Tagliaferri A, Martorana D, Rivolta GF, Valdre L, Rodoriga G, Biasoli C, D'Inca M, Serino ML,   Haemophilia 16, 791-800
             Macchi S, Vincenzi D, Arbasi M, Pedrazzi P, Volta M, Di Perna C, Ippolito L, Savi M, Neri TM,

205   2010   Wang XF, Zhao YQ, Yang RC, Wu JS, Sun J, Zhang XS, Ding QL, Ge HL, Wang HL                                  Haemophilia 16, 632-9
206   2010   Xue D, Zhang L, Sui T, Ge J, Gu D, Du W, Zhao H, Yang R                                                     Eur J Hum Haematol 85, 264-72
207   2010   You CW, Son HS, Kim HJ, Woo EJ, Kim SA, Baik HW                                                             Int J Hematol 91, 784-91
208   2011   Albanez S, Ruiz-Saez A, Boadas A, De Bosch N, Porco A                                                       Haemophilia 17, 1-6
209   2011   Gouw SC, van der Bom JG, van den Berg HM, Zewald RA, ploos van Amstel, Mauser-Bunschoten EP                 Haemophilia 17, 275-81
210   2011   Miller CH, Hooper WC, Abshire TC, Bockenstedt PL, Brettler DB, Di Paola JA, Massey G, Neff AT, Shapiro      Submitted
             AD, Tarantino M, Wicklund BM, Manco-Johnson MJ, Dunn AL, Knoll C, Barrett JC, Radhi M, Lentz SR,
             Kempton CL, Benson J, Ellingsen D, Driggers J, Payne A, Creary M, Kelly F, SoucieJM




                                                                          Page 217
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Figure 1. Novel F8 Mutations by Year of Publication

                                                      404
Figure 2. Frequency of F8 mutation types in the CHAMP Mutation List


                                                  Synonymous
                                      Small str      0.5%
                            Large str
                                       change              Promoter
                             change
                                        2.1%                 0.2%
                              5.4%
              Splice Site
                 7.2%


                     Nonsense
                      11.8%                                      Missense
                                                                  50.9%


                       Frameshift
                         21.9%
Figure 3. Missense, nonsense, and frameshift mutations in F8 by codon
Figure 4.
Figure 5. Reported large deletions in F8
Figure 6. Severity of F8 mutations by codon
Figure 7. F8 mutations reported with inhibitor
Table 1. Frequency of F8 Mutation Types in the CHAMP Mutation List

                                                 No. of
Mutation Type             Mechanism             Mutations   % of Mutations
Missense                  Substitution            1091           50.9%
Nonsense                  Substitution             252           11.8%
Frameshift                All                      469           21.9%
                          Deletion                 339           15.8%
                          Duplication              94             4.4%
                          Insertion                19             0.9%
                          Insertion/deletion       17             0.8%
Splice site change        All                      154            7.2%
                          Substitution             141            6.6%
                          Deletion                 12             0.6%
                          Insertion/deletion        1             0.1%
Large Structural Change
                          All                      116           5.4%
(>50 bp)
                          Deletion                  99           4.6%
                          Duplication               11           0.5%
                           Insertion                 4           0.2%
                          Inversion                  2           0.1%
Small Structural Change
                          All                       46           2.1%
(in-frame, <50 bp)
                          Deletion                  28           1.3%
                          Duplication                3           0.1%
                          Insertion                  6           0.3%
                          Insertion/deletion         9           0.4%
Synonymous                Substitution              11           0.5%
Promoter                  Substitution               4           0.2%
Total                                              2142
Table 2. F8 Mutation Types with Reported Inhibitors


                                                            No. of     No. (%) with
Effect                     Classification                 Mutations*    Inhibitors
Missense                   All                               811          74 (9.1)
                           C1 and C2                         161         21 (13.0)
                           Non-C1 and C2                     650          53 (8.2)
Nonsense                   All                               192         59 (30.7)
                           Heavy Chain                       123         30 (24.4)
                           Light Chain                       66          28 (42.2)
Frameshift                 All                               337         78 (23.1)
                           Poly A run                        10           5 (50.0)
                           Non-poly A run                    326         73 (22.3)
                           All
Large Structural Change (>50 bp)                             96          60 (62.5)
                           Large deletions                   83          57 (68.7)
                           Multiple domain                   42          35 (83.3)
                           Single domain                     41          22 (53.7)
Small Structural Change
(in-frame, <50 bp)         All                                 29        4 (13.8)
Splice site change         All                                 100      19 (19.0)
Promoter                   All                                  2            0
Synonymous                 All                                  9        2 (22.2)
Total                                                         1576      294 (18.7)

*Mutations with inhibitor status reported, 73.6% of total records
Instructions

To search the Excel file:

Microsoft Excel 2007
             o The filter application has been enabled in the CHAMP Mutation List tab. This enables the user to i
                    § Click the AutoFilter arrow in the upper right of the column of interest. This displays a list of
                    § De-Select the ‘Select All’ option.
                    § Scroll to item of interest to filter.
                    § Example – Isolating only frameshift mutations:
                         ·     Click the AutoFilter arrow in the Mutation Type field.
                         ·     De-Select the ‘Select All’ option.
                         ·     Scroll to and select ‘Frameshift’.
             o Sorting of fields enables the user to group similar entries.
                    § Select ‘Sort &Filter' on the Home menu.
                    § Select ‘Custom Sort.'
                    § Select 'Sort by' and chooe the field of interest from the drop-down box. (Note: you may ne
                    § To sort on additional fields select ‘Add Level.’
                    § Select the next field of interest from the drop-down box.
                    § Select ‘OK’
                    § Example – Sorting by codon number:
                         ·     Select 'Sort & Filter.'
                         ·     Select ‘Custom Sort.’
                         ·     Select ‘Codon’ from the drop-down box.
                         ·     Select ‘OK’

Microsoft 97-2003
             o The filter application has been enabled in the CHAMP Mutation List tab. This enables the user to i
                   § Click the AutoFilter arrow in the upper right of the column of interest. This displays a list of
                   § Scroll to item of interest to filter.
                   § Example – Isolating only frameshift mutations:
                         ·     Click the AutoFilter arrow in the Mutation Type field.
                         ·     Scroll to and select ‘Frameshift’.
             o Sorting of fields enables the user to group similar entries.
                   § Select ‘Sort &Filter' on the Home menu.
                   § Select ‘Custom Sort.'
                   § Select 'Sort by' and chooe the field of interest from the drop-down box. (Note: you may ne
b. This enables the user to isolate categories of interest.
erest. This displays a list of the items in the column.




wn box. (Note: you may need to select ‘My data has headers’)




b. This enables the user to isolate categories of interest.
erest. This displays a list of the items in the column.




wn box. (Note: you may need to select ‘My data has headers’)
                                Submission to CHAMP Mutation List

To submit a mutation for inclusion in the CHAMP Mutation List or to make a correction to a listed
mutation, please send the following information:

New Submission ______ Correction _______

HAMSTeRS codon and nucleotide change ______________________________________________________

HGVS cDNA and protein names _______________________________________________________________

Factor VIII level in U/deciliter or % ____________________

Clinical severity Severe _________ Moderate _________ Mild _________

History of Inhibitor Yes ______ No ________

Race/ethnicity ___________________________________________________

Country of origin _________________________________________________

Unique ID number (no names) _________________________________

Publication ______________________________________________________________________


Comments ______________________________________________________________________
        ______________________________________________________________________


Please send this form to Amanda Payne by fax at 01-404-639-1638 or by e-mail at bvx2@cdc.gov.

				
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