| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46755451A>C | CA406494470 | FKRP | c.1A>C (p.Met1Leu) c.-345-84A>C (n.-345-84A>C) n.311-84A>C n.247-6382A>C n.247+6786A>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46755451A>G | CA150773 | FKRP | c.1A>G (p.Met1Val) c.-345-84A>G (n.-345-84A>G) n.311-84A>G n.247-6382A>G n.247+6786A>G | ClinVar dbSNP |