| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77203099dup | CA278680 | MYO7A | c.5208dup (p.Lys1737GlnfsTer28) c.3049dup c.5061dup (p.Lys1688GlnfsTer28) c.2634dup (p.Lys879GlnfsTer28) c.5094dup (p.Lys1699GlnfsTer28) n.2744dup c.5091dup (p.Lys1698GlnfsTer28) c.5199dup (p.Lys1734GlnfsTer28) c.5202dup (p.Lys1735GlnfsTer28) c.5175dup (p.Lys1726GlnfsTer28) c.5112dup (p.Lys1705GlnfsTer28) c.4983dup (p.Lys1662GlnfsTer28) c.4971dup (p.Lys1658GlnfsTer28) c.4944dup (p.Lys1649GlnfsTer28) n.5528dup n.5530dup c.5298dup (p.Lys1767GlnfsTer28) c.5292dup (p.Lys1765GlnfsTer28) c.5289dup (p.Lys1764GlnfsTer28) c.5184dup (p.Lys1729GlnfsTer28) c.5181dup (p.Lys1728GlnfsTer28) n.5313dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.77203099del | CA2739270708 | MYO7A | c.5208del (p.Lys1737ArgfsTer?) c.3049del c.5061del (p.Lys1688ArgfsTer?) c.2634del (p.Lys879ArgfsTer?) c.5094del (p.Lys1699ArgfsTer?) n.2744del c.5091del (p.Lys1698ArgfsTer?) c.5199del (p.Lys1734ArgfsTer?) c.5202del (p.Lys1735ArgfsTer?) c.5175del (p.Lys1726ArgfsTer?) c.5112del (p.Lys1705ArgfsTer?) c.4983del (p.Lys1662ArgfsTer?) c.4971del (p.Lys1658ArgfsTer?) c.4944del (p.Lys1649ArgfsTer?) n.5528del n.5530del c.5298del (p.Lys1767ArgfsTer?) c.5292del (p.Lys1765ArgfsTer?) c.5289del (p.Lys1764ArgfsTer?) c.5184del (p.Lys1729ArgfsTer?) c.5181del (p.Lys1728ArgfsTer?) n.5313del | ClinVar dbSNP |