| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95101785C>A | CA374104533 | AOPEP,FANCC | n.410+21005C>A n.2414G>T c.1599G>T (p.Trp533Cys) c.1744G>T (n.1744G>T) c.918G>T (p.Trp306Cys) c.1434G>T (p.Trp478Cys) c.1143G>T (p.Trp381Cys) c.2319+21005C>A (n.2319+21005C>A) c.978G>T (p.Trp326Cys) | dbSNP |
| 9 | g.95101785C>T | CA16041335 | AOPEP,FANCC | n.410+21005C>T n.2414G>A c.1599G>A (p.Trp533Ter) c.1744G>A (n.1744G>A) c.918G>A (p.Trp306Ter) c.1434G>A (p.Trp478Ter) c.1143G>A (p.Trp381Ter) c.2319+21005C>T (n.2319+21005C>T) c.978G>A (p.Trp326Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.95101785C= | CA1865459545 | AOPEP,FANCC | n.410+21005C= n.2414G= c.1599G= (p.Trp533=) c.1744G= (n.1744G=) c.918G= (p.Trp306=) c.1434G= (p.Trp478=) c.1143G= (p.Trp381=) c.2319+21005C= (n.2319+21005C=) c.978G= (p.Trp326=) | dbSNP |