| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756533C>T | CA507975995 | FKRP | c.1083C>T (p.Tyr361=) n.247-5300C>T n.247+7868C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756533C>G | CA406496611 | FKRP | c.1083C>G (p.Tyr361Ter) n.247-5300C>G n.247+7868C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756533C>A | CA16616286 | FKRP | c.1083C>A (p.Tyr361Ter) n.247-5300C>A n.247+7868C>A | ClinVar dbSNP |