| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18149265dup | CA261769 | MYO15A | c.7006dup (p.Gln2336ProfsTer11) n.518dup c.6681dup (p.Ser2228GlnfsTer?) c.7000dup (p.Gln2334ProfsTer11) n.7340dup n.435-1656dup n.254-1656dup c.6946dup (p.Gln2316ProfsTer11) c.7009dup (p.Gln2337ProfsTer11) n.378-1656dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.18149264_18149265del | CA2636437323 | MYO15A | c.7005_7006del (p.Gln2336AlafsTer10) n.517_518del c.6680_6681del (p.Pro2227GlnfsTer?) c.6999_7000del (p.Gln2334AlafsTer10) n.7339_7340del n.435-1657_435-1656del n.254-1657_254-1656del c.6945_6946del (p.Gln2316AlafsTer10) c.7008_7009del (p.Gln2337AlafsTer10) n.378-1657_378-1656del | dbSNP gnomAD v4 |