| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77208781A>G | CA278703 | MYO7A | c.6029A>G (p.Asp2010Gly) c.3830A>G c.5882A>G (p.Asp1961Gly) c.3455A>G (p.Asp1152Gly) c.5915A>G (p.Asp1972Gly) n.3565A>G n.943A>G c.5912A>G (p.Asp1971Gly) c.6020A>G (p.Asp2007Gly) c.6023A>G (p.Asp2008Gly) c.5996A>G (p.Asp1999Gly) c.5933A>G (p.Asp1978Gly) c.5804A>G (p.Asp1935Gly) c.5792A>G (p.Asp1931Gly) c.5765A>G (p.Asp1922Gly) n.6349A>G n.6323A>G c.6119A>G (p.Asp2040Gly) c.6113A>G (p.Asp2038Gly) c.6110A>G (p.Asp2037Gly) c.6005A>G (p.Asp2002Gly) c.6002A>G (p.Asp2001Gly) n.6108A>G n.6049A>G n.6094A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77208781A= | CA1984128611 | MYO7A | c.6029A= (p.Asp2010=) c.3830A= c.5882A= (p.Asp1961=) c.3455A= (p.Asp1152=) c.5915A= (p.Asp1972=) n.3565A= n.943A= c.5912A= (p.Asp1971=) c.6020A= (p.Asp2007=) c.6023A= (p.Asp2008=) c.5996A= (p.Asp1999=) c.5933A= (p.Asp1978=) c.5804A= (p.Asp1935=) c.5792A= (p.Asp1931=) c.5765A= (p.Asp1922=) n.6349A= n.6323A= c.6119A= (p.Asp2040=) c.6113A= (p.Asp2038=) c.6110A= (p.Asp2037=) c.6005A= (p.Asp2002=) c.6002A= (p.Asp2001=) n.6108A= n.6049A= n.6094A= | dbSNP |