| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756369T>A | CA116724 | FKRP | c.919T>A (p.Tyr307Asn) n.247-5464T>A n.247+7704T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756369T>C | CA406496281 | FKRP | c.919T>C (p.Tyr307His) n.247-5464T>C n.247+7704T>C | dbSNP gnomAD v4 |
| 19 | g.46756369T= | CA2339067499 | FKRP | c.919T= (p.Tyr307=) n.247-5464T= n.247+7704T= | dbSNP dbSNP |