| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77201591A>T | CA132367 | MYO7A | c.4996A>T (p.Ser1666Cys) c.2837A>T c.4849A>T (p.Ser1617Cys) c.2422A>T (p.Ser808Cys) c.4882A>T (p.Ser1628Cys) n.2532A>T c.4879A>T (p.Ser1627Cys) c.4987A>T (p.Ser1663Cys) c.4990A>T (p.Ser1664Cys) c.4963A>T (p.Ser1655Cys) c.4900A>T (p.Ser1634Cys) c.4771A>T (p.Ser1591Cys) c.4759A>T (p.Ser1587Cys) c.4732A>T (p.Ser1578Cys) n.5316A>T n.5318A>T c.5086A>T (p.Ser1696Cys) c.5080A>T (p.Ser1694Cys) c.5077A>T (p.Ser1693Cys) c.4972A>T (p.Ser1658Cys) c.4969A>T (p.Ser1657Cys) n.5101A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77201591A>C | CA381951401 | MYO7A | c.4996A>C (p.Ser1666Arg) c.2837A>C c.4849A>C (p.Ser1617Arg) c.2422A>C (p.Ser808Arg) c.4882A>C (p.Ser1628Arg) n.2532A>C c.4879A>C (p.Ser1627Arg) c.4987A>C (p.Ser1663Arg) c.4990A>C (p.Ser1664Arg) c.4963A>C (p.Ser1655Arg) c.4900A>C (p.Ser1634Arg) c.4771A>C (p.Ser1591Arg) c.4759A>C (p.Ser1587Arg) c.4732A>C (p.Ser1578Arg) n.5316A>C n.5318A>C c.5086A>C (p.Ser1696Arg) c.5080A>C (p.Ser1694Arg) c.5077A>C (p.Ser1693Arg) c.4972A>C (p.Ser1658Arg) c.4969A>C (p.Ser1657Arg) n.5101A>C | dbSNP gnomAD v4 |
| 11 | g.77201591A= | CA1984124428 | MYO7A | c.4996A= (p.Ser1666=) c.2837A= c.4849A= (p.Ser1617=) c.2422A= (p.Ser808=) c.4882A= (p.Ser1628=) n.2532A= c.4879A= (p.Ser1627=) c.4987A= (p.Ser1663=) c.4990A= (p.Ser1664=) c.4963A= (p.Ser1655=) c.4900A= (p.Ser1634=) c.4771A= (p.Ser1591=) c.4759A= (p.Ser1587=) c.4732A= (p.Ser1578=) n.5316A= n.5318A= c.5086A= (p.Ser1696=) c.5080A= (p.Ser1694=) c.5077A= (p.Ser1693=) c.4972A= (p.Ser1658=) c.4969A= (p.Ser1657=) n.5101A= | dbSNP |