Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756276C>ACA116701FKRPc.826C>A (p.Leu276Ile)
n.247-5557C>A
n.247+7611C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46756276C>TCA507976222FKRPc.826C>T (p.Leu276=)
n.247-5557C>T
n.247+7611C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched