Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756214G>ACA116718FKRPc.764G>A (p.Trp255Ter)
n.247-5619G>A
n.247+7549G>A
ClinVar dbSNP gnomAD v4
19g.46756214G=CA2339067328FKRPc.764G= (p.Trp255=)
n.247-5619G=
n.247+7549G=
dbSNP

Number of alleles fetched