Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756349T>CCA116722FKRPc.899T>C (p.Val300Ala)
n.247-5484T>C
n.247+7684T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46756349T=CA2339067483FKRPc.899T= (p.Val300=)
n.247-5484T=
n.247+7684T=
 dbSNP

Number of alleles fetched