| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156018del | CA475792500 | MYO7A | c.397del (p.His133ThrfsTer13) c.364del (p.His122ThrfsTer13) c.139del (p.His47ThrfsTer13) n.717del n.719del c.487del (p.His163ThrfsTer13) n.502del | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.77156018dup | CA278662 | MYO7A | c.397dup (p.His133ProfsTer7) c.364dup (p.His122ProfsTer7) c.139dup (p.His47ProfsTer7) n.717dup n.719dup c.487dup (p.His163ProfsTer7) n.502dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |