| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77206120C>T | CA278690 | MYO7A | c.5660C>T (p.Pro1887Leu) c.3487C>T c.5513C>T (p.Pro1838Leu) c.3086C>T (p.Pro1029Leu) c.5546C>T (p.Pro1849Leu) n.3196C>T n.281C>T c.5543C>T (p.Pro1848Leu) c.5651C>T (p.Pro1884Leu) c.5654C>T (p.Pro1885Leu) c.5627C>T (p.Pro1876Leu) c.5564C>T (p.Pro1855Leu) c.5435C>T (p.Pro1812Leu) c.5423C>T (p.Pro1808Leu) c.5396C>T (p.Pro1799Leu) c.*25C>T (n.*25C>T) n.5980C>T c.5750C>T (p.Pro1917Leu) c.5744C>T (p.Pro1915Leu) c.5741C>T (p.Pro1914Leu) c.5636C>T (p.Pro1879Leu) c.5633C>T (p.Pro1878Leu) n.5765C>T n.5680C>T n.5751C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77206120C>A | CA381953211 | MYO7A | c.5660C>A (p.Pro1887Gln) c.3487C>A c.5513C>A (p.Pro1838Gln) c.3086C>A (p.Pro1029Gln) c.5546C>A (p.Pro1849Gln) n.3196C>A n.281C>A c.5543C>A (p.Pro1848Gln) c.5651C>A (p.Pro1884Gln) c.5654C>A (p.Pro1885Gln) c.5627C>A (p.Pro1876Gln) c.5564C>A (p.Pro1855Gln) c.5435C>A (p.Pro1812Gln) c.5423C>A (p.Pro1808Gln) c.5396C>A (p.Pro1799Gln) c.*25C>A (n.*25C>A) n.5980C>A c.5750C>A (p.Pro1917Gln) c.5744C>A (p.Pro1915Gln) c.5741C>A (p.Pro1914Gln) c.5636C>A (p.Pro1879Gln) c.5633C>A (p.Pro1878Gln) n.5765C>A n.5680C>A n.5751C>A | dbSNP |