| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756663G>A | CA406496882 | FKRP | c.1213G>A (p.Val405Met) n.247-5170G>A n.247+7998G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756663G>T | CA116712 | FKRP | c.1213G>T (p.Val405Leu) n.247-5170G>T n.247+7998G>T | ClinVar dbSNP |
| 19 | g.46756663G= | CA2339067747 | FKRP | c.1213G= (p.Val405=) n.247-5170G= n.247+7998G= | dbSNP |