| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46755995A>G | CA9532164 | FKRP | c.545A>G (p.Tyr182Cys) n.247-5838A>G n.247+7330A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755995A>T | CA406495537 | FKRP | c.545A>T (p.Tyr182Phe) n.247-5838A>T n.247+7330A>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46755995A>C | CA406495536 | FKRP | c.545A>C (p.Tyr182Ser) n.247-5838A>C n.247+7330A>C | ClinVar dbSNP |