| 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 |
| 16 | g.16154899G>C | CA394875497 | ABCC6 | n.878C>G c.*187C>G (n.*187C>G) c.4015C>G (p.Arg1339Gly) c.829C>G (p.Arg277Gly) c.3640C>G (n.3640C>G) c.*1224C>G (n.*1224C>G) c.3982C>G (p.Arg1328Gly) c.3673C>G (p.Arg1225Gly) n.539-4882G>C n.3677C>G c.3847C>G (p.Arg1283Gly) c.4051C>G (p.Arg1351Gly) | dbSNP gnomAD v4 |
| 16 | g.16154899G= | CA2210140867 | ABCC6 | n.878C= c.*187C= (n.*187C=) c.4015C= (p.Arg1339=) c.829C= (p.Arg277=) c.3640C= (n.3640C=) c.*1224C= (n.*1224C=) c.3982C= (p.Arg1328=) c.3673C= (p.Arg1225=) n.539-4882G= n.3677C= c.3847C= (p.Arg1283=) c.4051C= (p.Arg1351=) | dbSNP |