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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM13411 | Fibroblast | | T>G | 8993 | L>R | 156 | L156R | LEU156ARG |
| GM13740 | B-Lymphocyte | | T>G | 8993 | L>R | 156 | L156R | LEU156ARG |
| GM13741 | B-Lymphocyte | | T>G | 8993 | L>R | 156 | L156R | LEU156ARG |
| GM28010 | Fibroblast | | del10insAT | 312_321 | TCCC{TCTGCCAGCC} {AT}GAgt | 105 | p.L105X | c.312_321del10insAT (p.Leu105*) |
| GM28010 | Fibroblast | | C>T | 574 | CGG>TGG | 192 | p.Arg192Trp | c.574C>T (p.Arg192Trp) |
| GM28011 | Fibroblast | | del10insAT | 312_321 | TCCC{TCTGCCAGCC} {AT}GAgt | 105 | p.L105X | c.312_321del10insAT (p.Leu105*) |
| GM28012 | Fibroblast | | insCTGC | 574_575 | | 192 | p.Arg192Profs*8 | c.574_575insCTGC (p.Arg192Profs*8) |
| GM28012 | Fibroblast | | del10insAT | 312_321 | TCCC{TCTGCCAGCC} {AT}GAgt | 105 | p.L105X | c.312_321del10insAT (p.Leu105*) |
| GM28013 | Fibroblast | | C>T | 751 | CAG>TAG | 251 | p.GLn251Ter | c.751C>T (p.Q251X) |
| GM28013 | Fibroblast | | dupA | 796 | AGTT[dupA]CTCT | 266 | p.Thr266AsnfsX26 | c.796dupA (p.Thr266AsnfsX26) |
| GM28014 | Fibroblast | | dupA | 796 | AGTT[dupA]CTCT | 266 | p.Thr266AsnfsX26 | c.796dupA (p.Thr266AsnfsX26) |
| GM28016 | Fibroblast | | G>A | 370 | | 124 | p.Gly124Arg | c.370G>A (p.Gly124Arg) |
| GM28016 | Fibroblast | | G>A | 751 | | | c.751+1G>A | c.751+1G>A |
| GM28017 | Fibroblast | | G>A | 751 | | | c.751+1G>A | c.751+1G>A |
| GM28019 | Fibroblast | | G>A | 4096 | GAA>AAA | 1366 | p.Glu1366Lys | c.4096G>A (p.E1366K) |
| GM28019 | Fibroblast | | del10insAT | 312_321 | TCCC{TCTGCCAGCC} {AT}GAgt | 105 | p.L105X | c.312_321del10insAT (p.Leu105*) |
| GM28019 | Fibroblast | | T>C | 269 | CTG>CCG | 90 | p.L90P | c.269T>C (p.L90P) |
| GM28020 | Fibroblast | | G>A | 4096 | GAA>AAA | 1366 | p.Glu1366Lys | c.4096G>A (p.E1366K) |
| GM28020 | Fibroblast | | del10insAT | 312_321 | TCCC{TCTGCCAGCC} {AT}GAgt | 105 | p.L105X | c.312_321del10insAT (p.Leu105*) |
| GM28020 | Fibroblast | | T>C | 269 | CTG>CCG | 90 | p.L90P | c.269T>C (p.L90P) |