| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95101756G>T | CA16041334 | AOPEP,FANCC | n.410+20976G>T n.2443C>A c.1628C>A (p.Ser543Ter) c.1773C>A (n.1773C>A) c.947C>A (p.Ser316Ter) c.1463C>A (p.Ser488Ter) c.1172C>A (p.Ser391Ter) c.2319+20976G>T (n.2319+20976G>T) c.1007C>A (p.Ser336Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.95101756G= | CA1865459526 | AOPEP,FANCC | n.410+20976G= n.2443C= c.1628C= (p.Ser543=) c.1773C= (n.1773C=) c.947C= (p.Ser316=) c.1463C= (p.Ser488=) c.1172C= (p.Ser391=) c.2319+20976G= (n.2319+20976G=) c.1007C= (p.Ser336=) | dbSNP |
| 9 | g.95101756G>A | CA374104373 | AOPEP,FANCC | n.410+20976G>A n.2443C>T c.1628C>T (p.Ser543Leu) c.1773C>T (n.1773C>T) c.947C>T (p.Ser316Leu) c.1463C>T (p.Ser488Leu) c.1172C>T (p.Ser391Leu) c.2319+20976G>A (n.2319+20976G>A) c.1007C>T (p.Ser336Leu) | ClinVar dbSNP |