| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156018C>A | CA177366 | MYO7A | c.397C>A (p.His133Asn) c.364C>A (p.His122Asn) c.139C>A (p.His47Asn) n.717C>A n.719C>A c.487C>A (p.His163Asn) n.502C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156018C>T | CA278660 | MYO7A | c.397C>T (p.His133Tyr) c.364C>T (p.His122Tyr) c.139C>T (p.His47Tyr) n.717C>T n.719C>T c.487C>T (p.His163Tyr) n.502C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77156018C>G | CA381931480 | MYO7A | c.397C>G (p.His133Asp) c.364C>G (p.His122Asp) c.139C>G (p.His47Asp) n.717C>G n.719C>G c.487C>G (p.His163Asp) n.502C>G | ClinVar dbSNP gnomAD v4 |