Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756403G>ACA116726FKRPc.953G>A (p.Cys318Tyr)
n.247-5430G>A
n.247+7738G>A
 ClinVar dbSNP gnomAD v4
19g.46756403G=CA2339067551FKRPc.953G= (p.Cys318=)
n.247-5430G=
n.247+7738G=
 dbSNP

Number of alleles fetched