| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756187_46756199delinsG | CA658799255 | FKRP | c.737_749delinsG (p.Pro246_Thr250delinsArg) n.247-5646_247-5634delinsG n.247+7522_247+7534delinsG | ClinVar dbSNP |
| 19 | g.46756188_46756199del | CA10606831 | FKRP | c.738_749del (p.Pro247_Thr250del) n.247-5645_247-5634del n.247+7523_247+7534del | ClinVar dbSNP |