| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77211296C>T | CA16609577 | MYO7A | c.6196C>T (p.Gln2066Ter) c.3997C>T c.6049C>T (p.Gln2017Ter) c.3622C>T (p.Gln1208Ter) c.6082C>T (p.Gln2028Ter) n.3732C>T n.25+385C>T n.1663C>T c.6079C>T (p.Gln2027Ter) c.6187C>T (p.Gln2063Ter) c.6190C>T (p.Gln2064Ter) c.6163C>T (p.Gln2055Ter) c.6100C>T (p.Gln2034Ter) c.5971C>T (p.Gln1991Ter) c.5959C>T (p.Gln1987Ter) c.5932C>T (p.Gln1978Ter) n.6516C>T n.6490C>T c.6286C>T (p.Gln2096Ter) c.6280C>T (p.Gln2094Ter) c.6277C>T (p.Gln2093Ter) c.6172C>T (p.Gln2058Ter) c.6169C>T (p.Gln2057Ter) n.6275C>T n.6216C>T n.6261C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77211296C= | CA1984129898 | MYO7A | c.6196C= (p.Gln2066=) c.3997C= c.6049C= (p.Gln2017=) c.3622C= (p.Gln1208=) c.6082C= (p.Gln2028=) n.3732C= n.25+385C= n.1663C= c.6079C= (p.Gln2027=) c.6187C= (p.Gln2063=) c.6190C= (p.Gln2064=) c.6163C= (p.Gln2055=) c.6100C= (p.Gln2034=) c.5971C= (p.Gln1991=) c.5959C= (p.Gln1987=) c.5932C= (p.Gln1978=) n.6516C= n.6490C= c.6286C= (p.Gln2096=) c.6280C= (p.Gln2094=) c.6277C= (p.Gln2093=) c.6172C= (p.Gln2058=) c.6169C= (p.Gln2057=) n.6275C= n.6216C= n.6261C= | dbSNP |