| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77208697G>A | CA278700 | MYO7A | c.5945G>A (p.Gly1982Glu) c.3772-26G>A c.5798G>A (p.Gly1933Glu) c.3371G>A (p.Gly1124Glu) c.5831G>A (p.Gly1944Glu) n.3481G>A n.859G>A c.5828G>A (p.Gly1943Glu) c.5936G>A (p.Gly1979Glu) c.5939G>A (p.Gly1980Glu) c.5912G>A (p.Gly1971Glu) c.5849G>A (p.Gly1950Glu) c.5720G>A (p.Gly1907Glu) c.5708G>A (p.Gly1903Glu) c.5681G>A (p.Gly1894Glu) n.6265G>A n.6265-26G>A c.6035G>A (p.Gly2012Glu) c.6029G>A (p.Gly2010Glu) c.6026G>A (p.Gly2009Glu) c.5921G>A (p.Gly1974Glu) c.5918G>A (p.Gly1973Glu) n.6050-26G>A n.5965G>A n.6036-26G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77208697G= | CA1984128564 | MYO7A | c.5945G= (p.Gly1982=) c.3772-26G= c.5798G= (p.Gly1933=) c.3371G= (p.Gly1124=) c.5831G= (p.Gly1944=) n.3481G= n.859G= c.5828G= (p.Gly1943=) c.5936G= (p.Gly1979=) c.5939G= (p.Gly1980=) c.5912G= (p.Gly1971=) c.5849G= (p.Gly1950=) c.5720G= (p.Gly1907=) c.5708G= (p.Gly1903=) c.5681G= (p.Gly1894=) n.6265G= n.6265-26G= c.6035G= (p.Gly2012=) c.6029G= (p.Gly2010=) c.6026G= (p.Gly2009=) c.5921G= (p.Gly1974=) c.5918G= (p.Gly1973=) n.6050-26G= n.5965G= n.6036-26G= | dbSNP |
| 11 | g.77208697G>T | CA381933996 | MYO7A | c.5945G>T (p.Gly1982Val) c.3772-26G>T c.5798G>T (p.Gly1933Val) c.3371G>T (p.Gly1124Val) c.5831G>T (p.Gly1944Val) n.3481G>T n.859G>T c.5828G>T (p.Gly1943Val) c.5936G>T (p.Gly1979Val) c.5939G>T (p.Gly1980Val) c.5912G>T (p.Gly1971Val) c.5849G>T (p.Gly1950Val) c.5720G>T (p.Gly1907Val) c.5708G>T (p.Gly1903Val) c.5681G>T (p.Gly1894Val) n.6265G>T n.6265-26G>T c.6035G>T (p.Gly2012Val) c.6029G>T (p.Gly2010Val) c.6026G>T (p.Gly2009Val) c.5921G>T (p.Gly1974Val) c.5918G>T (p.Gly1973Val) n.6050-26G>T n.5965G>T n.6036-26G>T | dbSNP gnomAD v4 |