| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71602794A>T | CA347226649 | DYSF | c.1318A>T (p.Ile440Phe) c.535A>T (p.Ile179Phe) c.3892A>T (p.Ile1298Phe) c.3946A>T (p.Ile1316Phe) c.3895A>T (p.Ile1299Phe) c.3943A>T (p.Ile1315Phe) c.3988A>T (p.Ile1330Phe) c.3853A>T (p.Ile1285Phe) c.3985A>T (p.Ile1329Phe) n.276A>T n.777A>T n.111A>T n.252A>T c.3850A>T (p.Ile1284Phe) n.4146A>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71602794A>G | CA179991 | DYSF | c.1318A>G (p.Ile440Val) c.535A>G (p.Ile179Val) c.3892A>G (p.Ile1298Val) c.3946A>G (p.Ile1316Val) c.3895A>G (p.Ile1299Val) c.3943A>G (p.Ile1315Val) c.3988A>G (p.Ile1330Val) c.3853A>G (p.Ile1285Val) c.3985A>G (p.Ile1329Val) n.276A>G n.777A>G n.111A>G n.252A>G c.3850A>G (p.Ile1284Val) n.4146A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |