| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16150765G>T | CA129122 | ABCC6 | c.*388C>A (n.*388C>A) c.4216C>A (p.Gln1406Lys) c.1030C>A (p.Gln344Lys) c.3841C>A (n.3841C>A) n.1079C>A c.*1425C>A (n.*1425C>A) c.4183C>A (p.Gln1395Lys) c.3874C>A (p.Gln1292Lys) n.538+6475G>T n.3878C>A c.4048C>A (p.Gln1350Lys) c.4252C>A (p.Gln1418Lys) | ClinVar dbSNP |
| 16 | g.16150765G>A | CA394884086 | ABCC6 | c.*388C>T (n.*388C>T) c.4216C>T (p.Gln1406Ter) c.1030C>T (p.Gln344Ter) c.3841C>T (n.3841C>T) n.1079C>T c.*1425C>T (n.*1425C>T) c.4183C>T (p.Gln1395Ter) c.3874C>T (p.Gln1292Ter) n.538+6475G>A n.3878C>T c.4048C>T (p.Gln1350Ter) c.4252C>T (p.Gln1418Ter) | dbSNP gnomAD v4 |
| 16 | g.16150765G= | CA2210135368 | ABCC6 | c.*388C= (n.*388C=) c.4216C= (p.Gln1406=) c.1030C= (p.Gln344=) c.3841C= (n.3841C=) n.1079C= c.*1425C= (n.*1425C=) c.4183C= (p.Gln1395=) c.3874C= (p.Gln1292=) n.538+6475G= n.3878C= c.4048C= (p.Gln1350=) c.4252C= (p.Gln1418=) | dbSNP |