| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77207370G>A | CA132400 | MYO7A | c.5824G>A (p.Gly1942Arg) c.3651G>A c.5677G>A (p.Gly1893Arg) c.3250G>A (p.Gly1084Arg) c.5710G>A (p.Gly1904Arg) n.3360G>A n.738G>A c.5707G>A (p.Gly1903Arg) c.5815G>A (p.Gly1939Arg) c.5818G>A (p.Gly1940Arg) c.5791G>A (p.Gly1931Arg) c.5728G>A (p.Gly1910Arg) c.5599G>A (p.Gly1867Arg) c.5587G>A (p.Gly1863Arg) c.5560G>A (p.Gly1854Arg) n.6144G>A c.5914G>A (p.Gly1972Arg) c.5908G>A (p.Gly1970Arg) c.5905G>A (p.Gly1969Arg) c.5800G>A (p.Gly1934Arg) c.5797G>A (p.Gly1933Arg) n.5929G>A n.5844G>A n.5915G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.77207370G>T | CA278693 | MYO7A | c.5824G>T (p.Gly1942Ter) c.3651G>T c.5677G>T (p.Gly1893Ter) c.3250G>T (p.Gly1084Ter) c.5710G>T (p.Gly1904Ter) n.3360G>T n.738G>T c.5707G>T (p.Gly1903Ter) c.5815G>T (p.Gly1939Ter) c.5818G>T (p.Gly1940Ter) c.5791G>T (p.Gly1931Ter) c.5728G>T (p.Gly1910Ter) c.5599G>T (p.Gly1867Ter) c.5587G>T (p.Gly1863Ter) c.5560G>T (p.Gly1854Ter) n.6144G>T c.5914G>T (p.Gly1972Ter) c.5908G>T (p.Gly1970Ter) c.5905G>T (p.Gly1969Ter) c.5800G>T (p.Gly1934Ter) c.5797G>T (p.Gly1933Ter) n.5929G>T n.5844G>T n.5915G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77207370G= | CA1984127883 | MYO7A | c.5824G= (p.Gly1942=) c.3651G= c.5677G= (p.Gly1893=) c.3250G= (p.Gly1084=) c.5710G= (p.Gly1904=) n.3360G= n.738G= c.5707G= (p.Gly1903=) c.5815G= (p.Gly1939=) c.5818G= (p.Gly1940=) c.5791G= (p.Gly1931=) c.5728G= (p.Gly1910=) c.5599G= (p.Gly1867=) c.5587G= (p.Gly1863=) c.5560G= (p.Gly1854=) n.6144G= c.5914G= (p.Gly1972=) c.5908G= (p.Gly1970=) c.5905G= (p.Gly1969=) c.5800G= (p.Gly1934=) c.5797G= (p.Gly1933=) n.5929G= n.5844G= n.5915G= | dbSNP |