| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46755524C>T | CA9532104 | FKRP | c.74C>T (p.Ser25Leu) c.-345-11C>T (n.-345-11C>T) n.311-11C>T n.247-6309C>T n.247+6859C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46755524C>G | CA406494614 | FKRP | c.74C>G (p.Ser25Trp) c.-345-11C>G (n.-345-11C>G) n.311-11C>G n.247-6309C>G n.247+6859C>G | dbSNP |
| 19 | g.46755524C>A | CA309099176 | FKRP | c.74C>A (p.Ser25Ter) c.-345-11C>A (n.-345-11C>A) n.311-11C>A n.247-6309C>A n.247+6859C>A | dbSNP |