Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113117504G>C | CA7060066 | F7 | c.647G>C (p.Cys216Ser) c.713G>C (p.Cys238Ser) c.461G>C (p.Cys154Ser) n.734G>C c.506G>C (p.Cys169Ser) c.755G>C (p.Cys252Ser) c.569G>C (p.Cys190Ser) c.407G>C (p.Cys136Ser) c.716G>C (p.Cys239Ser) c.551G>C (p.Cys184Ser) c.800G>C (p.Cys267Ser) c.614G>C (p.Cys205Ser) n.731G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113117504G>A | CA256460429 | F7 | c.647G>A (p.Cys216Tyr) c.713G>A (p.Cys238Tyr) c.461G>A (p.Cys154Tyr) n.734G>A c.506G>A (p.Cys169Tyr) c.755G>A (p.Cys252Tyr) c.569G>A (p.Cys190Tyr) c.407G>A (p.Cys136Tyr) c.716G>A (p.Cys239Tyr) c.551G>A (p.Cys184Tyr) c.800G>A (p.Cys267Tyr) c.614G>A (p.Cys205Tyr) n.731G>A | ClinVar dbSNP gnomAD v4 |