| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77162861del | CA16619410 | MYO7A | c.1563del (p.Asp521GlufsTer8) c.1530del (p.Asp510GlufsTer8) c.1332del (p.Asp444GlufsTer8) c.1305del (p.Asp435GlufsTer8) n.1883del n.1885del c.1653del (p.Asp551GlufsTer8) c.1422del (p.Asp474GlufsTer8) n.1668del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77162861C= | CA1984104186 | MYO7A | c.1563C= (p.Asp521=) c.1530C= (p.Asp510=) c.1332C= (p.Asp444=) c.1305C= (p.Asp435=) n.1883C= n.1885C= c.1653C= (p.Asp551=) c.1422C= (p.Asp474=) n.1668C= | dbSNP dbSNP |