| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77211170C>A | CA475791881 | MYO7A | c.6070C>A (p.Arg2024=) c.3871C>A c.5923C>A (p.Arg1975=) c.3496C>A (p.Arg1166=) c.5956C>A (p.Arg1986=) n.3606C>A n.25+259C>A n.1537C>A c.5953C>A (p.Arg1985=) c.6061C>A (p.Arg2021=) c.6064C>A (p.Arg2022=) c.6037C>A (p.Arg2013=) c.5974C>A (p.Arg1992=) c.5845C>A (p.Arg1949=) c.5833C>A (p.Arg1945=) c.5806C>A (p.Arg1936=) n.6390C>A n.6364C>A c.6160C>A (p.Arg2054=) c.6154C>A (p.Arg2052=) c.6151C>A (p.Arg2051=) c.6046C>A (p.Arg2016=) c.6043C>A (p.Arg2015=) n.6149C>A n.6090C>A n.6135C>A | dbSNP gnomAD v4 |
| 11 | g.77211170C>T | CA278705 | MYO7A | c.6070C>T (p.Arg2024Ter) c.3871C>T c.5923C>T (p.Arg1975Ter) c.3496C>T (p.Arg1166Ter) c.5956C>T (p.Arg1986Ter) n.3606C>T n.25+259C>T n.1537C>T c.5953C>T (p.Arg1985Ter) c.6061C>T (p.Arg2021Ter) c.6064C>T (p.Arg2022Ter) c.6037C>T (p.Arg2013Ter) c.5974C>T (p.Arg1992Ter) c.5845C>T (p.Arg1949Ter) c.5833C>T (p.Arg1945Ter) c.5806C>T (p.Arg1936Ter) n.6390C>T n.6364C>T c.6160C>T (p.Arg2054Ter) c.6154C>T (p.Arg2052Ter) c.6151C>T (p.Arg2051Ter) c.6046C>T (p.Arg2016Ter) c.6043C>T (p.Arg2015Ter) n.6149C>T n.6090C>T n.6135C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |