| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154899G>T | CA7925348 | ABCC6 | n.878C>A c.*187C>A (n.*187C>A) c.4015C>A (p.Arg1339Ser) c.829C>A (p.Arg277Ser) c.3640C>A (n.3640C>A) c.*1224C>A (n.*1224C>A) c.3982C>A (p.Arg1328Ser) c.3673C>A (p.Arg1225Ser) n.539-4882G>T n.3677C>A c.3847C>A (p.Arg1283Ser) c.4051C>A (p.Arg1351Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154899G>A | CA281577 | ABCC6 | n.878C>T c.*187C>T (n.*187C>T) c.4015C>T (p.Arg1339Cys) c.829C>T (p.Arg277Cys) c.3640C>T (n.3640C>T) c.*1224C>T (n.*1224C>T) c.3982C>T (p.Arg1328Cys) c.3673C>T (p.Arg1225Cys) n.539-4882G>A n.3677C>T c.3847C>T (p.Arg1283Cys) c.4051C>T (p.Arg1351Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |