| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756604C>G | CA309099824 | FKRP | c.1154C>G (p.Ser385Trp) n.247-5229C>G n.247+7939C>G | dbSNP gnomAD v4 |
| 19 | g.46756604C>T | CA9532258 | FKRP | c.1154C>T (p.Ser385Leu) n.247-5229C>T n.247+7939C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756604C>A | CA116697 | FKRP | c.1154C>A (p.Ser385Ter) n.247-5229C>A n.247+7939C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |