| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756397C>G | CA245436 | FKRP | c.947C>G (p.Pro316Arg) n.247-5436C>G n.247+7732C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756397C= | CA2339067542 | FKRP | c.947C= (p.Pro316=) n.247-5436C= n.247+7732C= | dbSNP |
| 19 | g.46756397C>A | CA406496338 | FKRP | c.947C>A (p.Pro316His) n.247-5436C>A n.247+7732C>A | dbSNP gnomAD v4 |