| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95111490dup | CA299134 | AOPEP,FANCC | n.410+30710dup n.2117dup c.1302dup (p.Gly435TrpfsTer?) c.1302dup (p.Gly435TrpfsTer21) c.1447dup (n.1447dup) n.629dup n.657dup n.487dup c.621dup (p.Gly208TrpfsTer?) c.1137dup (p.Gly380TrpfsTer?) c.846dup (p.Gly283TrpfsTer?) c.2319+30710dup (n.2319+30710dup) c.681dup (p.Gly228TrpfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95111490A= | CA3165530901 | AOPEP,FANCC | n.410+30710A= n.2117T= c.1302T= (p.Asp434=) c.1447T= (n.1447T=) n.629T= n.657T= n.487T= c.621T= (p.Asp207=) c.1137T= (p.Asp379=) c.846T= (p.Asp282=) c.2319+30710A= (n.2319+30710A=) c.681T= (p.Asp227=) | dbSNP dbSNP |