| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77202357C>T | CA278678 | MYO7A | c.5101C>T (p.Arg1701Ter) c.2942C>T c.4954C>T (p.Arg1652Ter) c.2527C>T (p.Arg843Ter) c.4987C>T (p.Arg1663Ter) n.2637C>T c.4984C>T (p.Arg1662Ter) c.5092C>T (p.Arg1698Ter) c.5095C>T (p.Arg1699Ter) c.5068C>T (p.Arg1690Ter) c.5005C>T (p.Arg1669Ter) c.4876C>T (p.Arg1626Ter) c.4864C>T (p.Arg1622Ter) c.4837C>T (p.Arg1613Ter) n.5421C>T n.5423C>T c.5191C>T (p.Arg1731Ter) c.5185C>T (p.Arg1729Ter) c.5182C>T (p.Arg1728Ter) c.5077C>T (p.Arg1693Ter) c.5074C>T (p.Arg1692Ter) n.5206C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77202357C>G | CA381951669 | MYO7A | c.5101C>G (p.Arg1701Gly) c.2942C>G c.4954C>G (p.Arg1652Gly) c.2527C>G (p.Arg843Gly) c.4987C>G (p.Arg1663Gly) n.2637C>G c.4984C>G (p.Arg1662Gly) c.5092C>G (p.Arg1698Gly) c.5095C>G (p.Arg1699Gly) c.5068C>G (p.Arg1690Gly) c.5005C>G (p.Arg1669Gly) c.4876C>G (p.Arg1626Gly) c.4864C>G (p.Arg1622Gly) c.4837C>G (p.Arg1613Gly) n.5421C>G n.5423C>G c.5191C>G (p.Arg1731Gly) c.5185C>G (p.Arg1729Gly) c.5182C>G (p.Arg1728Gly) c.5077C>G (p.Arg1693Gly) c.5074C>G (p.Arg1692Gly) n.5206C>G | dbSNP gnomAD v4 |
| 11 | g.77202357C= | CA1984125260 | MYO7A | c.5101C= (p.Arg1701=) c.2942C= c.4954C= (p.Arg1652=) c.2527C= (p.Arg843=) c.4987C= (p.Arg1663=) n.2637C= c.4984C= (p.Arg1662=) c.5092C= (p.Arg1698=) c.5095C= (p.Arg1699=) c.5068C= (p.Arg1690=) c.5005C= (p.Arg1669=) c.4876C= (p.Arg1626=) c.4864C= (p.Arg1622=) c.4837C= (p.Arg1613=) n.5421C= n.5423C= c.5191C= (p.Arg1731=) c.5185C= (p.Arg1729=) c.5182C= (p.Arg1728=) c.5077C= (p.Arg1693=) c.5074C= (p.Arg1692=) n.5206C= | dbSNP |