| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756113C>A | CA116708 | FKRP | c.663C>A (p.Ser221Arg) n.247-5720C>A n.247+7448C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756113C>G | CA406495761 | FKRP | c.663C>G (p.Ser221Arg) n.247-5720C>G n.247+7448C>G | dbSNP gnomAD v4 |
| 19 | g.46756113C= | CA2339067590 | FKRP | c.663C= (p.Ser221=) n.247-5720C= n.247+7448C= | dbSNP |