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					                                    SUPPLEMENTARY TABLE 4. Splicing defects in COL1A2
     Nucleotide                                               Phenotype b                                        Unpublished
      Change a         IVS location     Transcript Change Lethal Non-Lethal       References              (personal communications)
     g.8927A>G         IVS5-2A>G             multiple             EDSVIIB (Byers, et al., 1997)
     g.8927A>G         IVS5-2A>G       Skips 1st 15bp exon 6      EDSVIIB                                 Marini, Cabral and Pals
     g.8928G>A          IVS5-1>A             multiple             EDSVIIB (Byers, et al., 1997)
     g.8928G>C          IVS5-1G>C       cryptic site +14 e6       EDSVIIB (Chiodo, et al., 1992)
     g.8982G>A           8982G>A           Skips exon 6           EDSVIIB (Weil, et al., 1989)
     g.8982G>A           8982G>A           Skips exon 6           EDSVIIB (Byers, et al., 1997)
     g.8983G>A         IVS6+1G>A           Skips exon 6           EDSVIIB (Weil, et al., 1990)
     g.8983G>A         IVS6+1G>A           Skips exon 6           EDSVIIB (Vasan, et al., 1991)
     g.8983G>A         IVS6+1G>A           Skips exon 6           EDSVIIB (Nicholls, et al., 1991)
     g.8983G>A         IVS6+1G>A           Skips exon 6           EDSVIIB (Watson, et al., 1992)
     g.8983G>A         IVS6+1G>A           Skips exon 6           EDSVIIB (Lehmann, et al., 1994)
     g.8983G>A         IVS6+1G>A           Skips exon 6           EDSVIIB (Giunta, et al., 1999)
     g.8983G>T         IVS6+1G>T           Skips exon 6           EDSVIIB (Byers, et al., 1997)
     g.8983G>T         IVS6+1G>T           Skips exon 6           EDSVIIB (Byers, et al., 1997)
     g.8983G>T         IVS6+1G>T           Skips exon 6           EDSVIIB (Nicholls, et al., 2000)
     g.8984T>C         IVS6+2T>C           Skips exon 6           EDSVIIB (Weil, et al., 1988)
     g.8984T>C         IVS6+2T>C           Skips exon 6           EDSVIIB (Ho, et al., 1994)
     g.8984T>C         IVS6+2T>C           Skips exon 6           EDSVIIB (Giunta, et al., 1999)
    g.12256G>T         IVS9+1G>T           Skips exon 9              IV                 Byers
 g.12258_12268del11   IVS9+3^13del11       Skips exon 9            OI/EDS    (Nicholls, et al., 1992)
g.12259_12262delAGTA IVS9+4^7delAGTA       Skips exon 9              IV                                   Byers
    g.12260G>A         IVS9+5G>A           Skips exon 9            OI/EDS    (Feshchenko, et al., 1998)
    g.12256G>A         IVS9+5G>A           Skips exon 9            OI/EDS                                 Byers
   g.12260G>A          IVS9+5G>A        more complex?          IV                                  Byers
    g.12561G>C          IVS9-1G>C                            OI/EDS                                Hyland and Prockop
g.13031_13050del20   13031_13050del20   Skips exon 11        OI/EDS   (Kuivaniemi, et al., 1988)
   g.13668T>G          IVS12+2T>G       Skips exon 12          IV     (Chipman, et al., 1992)
g.13667_13685del19   IVS12+1^19del19    Skips exon 12          IV                                  Byers
   g.15214T>A          IVS12-3T>A                              IV     (Ward, et al., 2001)
g.15265_15283del19   IVS13+4^22del19    Skips exon 13          I      (Zhuang, et al., 1993)
   g.15607G>A          IVS14+1G>A       Skips exon 14          I                                   Korkko and Prockop
   g.15608T>C          IVS14+2T>C       Skips exon 14          IV                                  Byers
   g.15608T>A          IVS14+2T>A       Skips exon 14          IV                                  Byers
   g.16138A>G          IVS15-2A>G       Skips exon 16          IV                                  Byers
   g.16194G>A          IVS16+1G>A       Skips exon 16          IV     (Filie, et al., 1993)
   g.16194G>T          IVS16+1G>T       Skips exon 16          IV     (Ward, et al., 2001)
   g.16195T>C          IVS16+2T>C       Skips exon 16        III/IV   (Zolezzi, et al., 1995)
   g.16195T>A          IVS16+2T>A       Skips exon 16          I                                   Korkko and Prockop
   g.17611G>C          IVS19-1G>C       Skips exon 20          I      (Mottes, et al., 1994)
                                                                      (Superti-Furga, et al.,
g.17900_17938del39   IVS21+2^40del39    Skips exon 21          I      1993)
   g.17903G>A          IVS21+5G>A       Skips exon 21          I      (Nicholls, et al., 1996)
   g.17903G>C          IVS21+5G>C       Skips exon 21          IV                                  Byers
   g.17903G>A          IVS21+5G>A       Skips exon 21          IV                                  Byers
       ND                  ND           Skips exon 26          IV     (Wenstrup, et al., 1990)
   g.20451G>C          IVS25-1G>C       Skips exon 26          III                                 Lund
   g.20508A>G          IVS26+3A>G       Skips exon 26          IV     (Zolezzi, et al., 1997)
                                                                      (Tromp and Prockop,
   g.21261A>G          IVS27-2A>G       Skips exon 28   II            1988)
       ND                  ND           Skips exon 30   II                                         Nuytinck and De Paepe
      g.22641G>A              IVS30+1G>A              Skips exon 30          II                                            Byers
                                                  del32, ins last 6nt IVS                       (Kuslich and Byers,
      g.25198G>A              IVS32+1G>A                    32                        III/IV    2000)
      g.25198G>A              IVS32+1G>A              Skips exon 32          II                                            Byers
      g.25924A>G              IVS33+4A>G          first 18 nt ins IVS33                IV       (Wenstrup, et al., 1993)
      g.25925G>A              IVS33+5G>A              Skips exon 33          II                 (Ganguly, et al., 1991)
          ND                      ND                  Skips exon 34          II                                            Cohn, King and Krakow
g.27647T>A;27649A>C IVS35+6T>A;+8A>C                Skips exon 35                    III                                 De Paepe
      g.27801T>C              IVS36+2T>C              Skips exon 36                    III                                 Korkko and Prockop
      g.28004G>T              IVS37+1G>T              Skips exon 37          II                                            Byers
      g.28363A>G              IVS37-2A>G          del38 + cryptic site?                IV                                  Byers
      g.30439G>A              IVS40+5G>A            del last 66nt e40        II                 (Ward, et al., 2001)
      g.32424T>G              IVS41-3T>G              Skips exon 42          II                                            Byers
      g.32974G>A              IVS43+1G>A            del43, ins IVS 43                  IV                                  Byers
      g.32974G>A              IVS43+1G>A              Skips exon 43                    IV                                  De Paepe
      g.32974G>A              IVS43+1G>A              Skips exon 43                    IV                                  Cohn, King and Krakow
      g.32974G>A              IVS43+1G>A                                               IV       (Hartikka, et al., 2004)
          ND                      ND                  Skips exon 47          II                                            Cohn, King and Krakow
      g.34370G>C              IVS47+5G>C              Skips exon 47          II                                            Korkko and Prockop
a
The Nucleotide changes: described at the genomic level. Numbered from the first base of the transcript.
b
Phenotype: is based on the callsification proposed by Sillence (Sillence, et al., 1979).
ND=mutation detected only at mRNA level.
References


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Description: Nucleotide collagen