Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.95171113_95171116del | CA299130 | FANCC | n.878_881del c.487_490del (p.Glu163IlefsTer30) n.545_548del c.632_635del (n.632_635del) n.202_205del c.487_490del (p.Glu163IlefsTer21) c.31_34del (p.Glu11IlefsTer30) c.31_34del (p.Glu11IlefsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95171115_95171116del | CA338142 | FANCC | n.880_881del c.489_490del (p.Asn164SerfsTer3) n.547_548del c.634_635del (n.634_635del) n.204_205del c.33_34del (p.Asn12SerfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |