| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77211311C>T | CA16609578 | MYO7A | c.6211C>T (p.Gln2071Ter) c.4012C>T c.6064C>T (p.Gln2022Ter) c.3637C>T (p.Gln1213Ter) c.6097C>T (p.Gln2033Ter) n.3747C>T n.25+400C>T n.1678C>T c.6094C>T (p.Gln2032Ter) c.6202C>T (p.Gln2068Ter) c.6205C>T (p.Gln2069Ter) c.6178C>T (p.Gln2060Ter) c.6115C>T (p.Gln2039Ter) c.5986C>T (p.Gln1996Ter) c.5974C>T (p.Gln1992Ter) c.5947C>T (p.Gln1983Ter) n.6531C>T n.6505C>T c.6301C>T (p.Gln2101Ter) c.6295C>T (p.Gln2099Ter) c.6292C>T (p.Gln2098Ter) c.6187C>T (p.Gln2063Ter) c.6184C>T (p.Gln2062Ter) n.6290C>T n.6276C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77211311C= | CA1984129907 | MYO7A | c.6211C= (p.Gln2071=) c.4012C= c.6064C= (p.Gln2022=) c.3637C= (p.Gln1213=) c.6097C= (p.Gln2033=) n.3747C= n.25+400C= n.1678C= c.6094C= (p.Gln2032=) c.6202C= (p.Gln2068=) c.6205C= (p.Gln2069=) c.6178C= (p.Gln2060=) c.6115C= (p.Gln2039=) c.5986C= (p.Gln1996=) c.5974C= (p.Gln1992=) c.5947C= (p.Gln1983=) n.6531C= n.6505C= c.6301C= (p.Gln2101=) c.6295C= (p.Gln2099=) c.6292C= (p.Gln2098=) c.6187C= (p.Gln2063=) c.6184C= (p.Gln2062=) n.6290C= n.6276C= | dbSNP |
| 11 | g.77211311C>G | CA381936239 | MYO7A | c.6211C>G (p.Gln2071Glu) c.4012C>G c.6064C>G (p.Gln2022Glu) c.3637C>G (p.Gln1213Glu) c.6097C>G (p.Gln2033Glu) n.3747C>G n.25+400C>G n.1678C>G c.6094C>G (p.Gln2032Glu) c.6202C>G (p.Gln2068Glu) c.6205C>G (p.Gln2069Glu) c.6178C>G (p.Gln2060Glu) c.6115C>G (p.Gln2039Glu) c.5986C>G (p.Gln1996Glu) c.5974C>G (p.Gln1992Glu) c.5947C>G (p.Gln1983Glu) n.6531C>G n.6505C>G c.6301C>G (p.Gln2101Glu) c.6295C>G (p.Gln2099Glu) c.6292C>G (p.Gln2098Glu) c.6187C>G (p.Gln2063Glu) c.6184C>G (p.Gln2062Glu) n.6290C>G n.6276C>G | dbSNP gnomAD v4 |