| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77206108G>A | CA278689 | MYO7A | c.5648G>A (p.Arg1883Gln) c.3475G>A c.5501G>A (p.Arg1834Gln) c.3074G>A (p.Arg1025Gln) c.5534G>A (p.Arg1845Gln) n.3184G>A n.269G>A c.5531G>A (p.Arg1844Gln) c.5639G>A (p.Arg1880Gln) c.5642G>A (p.Arg1881Gln) c.5615G>A (p.Arg1872Gln) c.5552G>A (p.Arg1851Gln) c.5423G>A (p.Arg1808Gln) c.5411G>A (p.Arg1804Gln) c.5384G>A (p.Arg1795Gln) c.*13G>A (n.*13G>A) n.5968G>A c.5738G>A (p.Arg1913Gln) c.5732G>A (p.Arg1911Gln) c.5729G>A (p.Arg1910Gln) c.5624G>A (p.Arg1875Gln) c.5621G>A (p.Arg1874Gln) n.5753G>A n.5668G>A n.5739G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77206108G= | CA1984127232 | MYO7A | c.5648G= (p.Arg1883=) c.3475G= c.5501G= (p.Arg1834=) c.3074G= (p.Arg1025=) c.5534G= (p.Arg1845=) n.3184G= n.269G= c.5531G= (p.Arg1844=) c.5639G= (p.Arg1880=) c.5642G= (p.Arg1881=) c.5615G= (p.Arg1872=) c.5552G= (p.Arg1851=) c.5423G= (p.Arg1808=) c.5411G= (p.Arg1804=) c.5384G= (p.Arg1795=) c.*13G= (n.*13G=) n.5968G= c.5738G= (p.Arg1913=) c.5732G= (p.Arg1911=) c.5729G= (p.Arg1910=) c.5624G= (p.Arg1875=) c.5621G= (p.Arg1874=) n.5753G= n.5668G= n.5739G= | dbSNP |