| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75985795G>A | CA257672 | POR | c.1390G>A (p.Gly464Arg) c.1516G>A (p.Gly506Arg) c.1615G>A (p.Gly539Arg) c.*109-265G>A (n.*109-265G>A) c.829G>A (p.Gly277Arg) c.1766G>A c.*920G>A (n.*920G>A) n.226G>A c.1669G>A (p.Gly557Arg) c.1465G>A (p.Gly489Arg) c.1606G>A (p.Gly536Arg) c.1660G>A (p.Gly554Arg) c.1456G>A (p.Gly486Arg) | ClinVar ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985795G>C | CA4304207 | POR | c.1390G>C (p.Gly464Arg) c.1516G>C (p.Gly506Arg) c.1615G>C (p.Gly539Arg) c.*109-265G>C (n.*109-265G>C) c.829G>C (p.Gly277Arg) c.1766G>C c.*920G>C (n.*920G>C) n.226G>C c.1669G>C (p.Gly557Arg) c.1465G>C (p.Gly489Arg) c.1606G>C (p.Gly536Arg) c.1660G>C (p.Gly554Arg) c.1456G>C (p.Gly486Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.75985795G= | CA1718180342 | POR | c.1390G= (p.Gly464=) c.1516G= (p.Gly506=) c.1615G= (p.Gly539=) c.*109-265G= (n.*109-265G=) c.829G= (p.Gly277=) c.1766G= c.*920G= (n.*920G=) n.226G= c.1669G= (p.Gly557=) c.1465G= (p.Gly489=) c.1606G= (p.Gly536=) c.1660G= (p.Gly554=) c.1456G= (p.Gly486=) | dbSNP |