| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45173065C>A | CA251893 | FANCM | c.383C>A (p.Ser128Ter) c.1964C>A (p.Ser655Ter) c.2012C>A (p.Ser671Ter) c.*982C>A (n.*982C>A) c.2171C>A (p.Ser724Ter) c.*196C>A (n.*196C>A) c.2161-2006C>A (n.2161-2006C>A) n.2119C>A n.2721C>A c.169C>A c.988C>A c.2093C>A (p.Ser698Ter) c.719C>A (p.Ser240Ter) c.185C>A (p.Ser62Ter) c.1208C>A (p.Ser403Ter) c.986C>A (p.Ser329Ter) n.2263C>A | ClinVar dbSNP |
| 14 | g.45173065C= | CA2133618822 | FANCM | c.383C= (p.Ser128=) c.1964C= (p.Ser655=) c.2012C= (p.Ser671=) c.*982C= (n.*982C=) c.2171C= (p.Ser724=) c.*196C= (n.*196C=) c.2161-2006C= (n.2161-2006C=) n.2119C= n.2721C= c.169C= c.988C= c.2093C= (p.Ser698=) c.719C= (p.Ser240=) c.185C= (p.Ser62=) c.1208C= (p.Ser403=) c.986C= (p.Ser329=) n.2263C= | dbSNP |