| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71612673dup | CA222163 | DYSF | c.1668dup (p.Ile557HisfsTer8) c.885dup (p.Ile296HisfsTer8) c.843dup (p.Ile282HisfsTer8) c.4200dup (p.Ile1401HisfsTer8) c.4254dup (p.Ile1419HisfsTer8) c.4203dup (p.Ile1402HisfsTer8) c.4251dup (p.Ile1418HisfsTer8) c.4296dup (p.Ile1433HisfsTer8) c.4161dup (p.Ile1388HisfsTer8) c.4293dup (p.Ile1432HisfsTer8) n.436dup n.584dup n.1085dup n.419dup n.498dup c.4158dup (p.Ile1387HisfsTer8) n.4454dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.71612673del | CA1706939 | DYSF | c.1668del (p.Ile557SerfsTer?) c.885del (p.Ile296SerfsTer?) c.843del (p.Ile282SerfsTer?) c.4200del (p.Ile1401SerfsTer?) c.4254del (p.Ile1419SerfsTer?) c.4203del (p.Ile1402SerfsTer?) c.4251del (p.Ile1418SerfsTer?) c.4296del (p.Ile1433SerfsTer?) c.4161del (p.Ile1388SerfsTer?) c.4293del (p.Ile1432SerfsTer?) n.436del n.584del n.1085del n.419del n.498del c.4158del (p.Ile1387SerfsTer?) n.4454del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |