| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756936T>A | CA116704 | FKRP | c.1486T>A (p.Ter496Arg) n.247-4897T>A n.247+8271T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756936T>G | CA406497461 | FKRP | c.1486T>G (p.Ter496Gly) n.247-4897T>G n.247+8271T>G | dbSNP gnomAD v4 |
| 19 | g.46756936T= | CA2339067886 | FKRP | c.1486T= (p.Ter496=) n.247-4897T= n.247+8271T= | dbSNP |