Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756663G>ACA406496882FKRPc.1213G>A (p.Val405Met)
n.247-5170G>A
n.247+7998G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.46756663G>TCA116712FKRPc.1213G>T (p.Val405Leu)
n.247-5170G>T
n.247+7998G>T
ClinVar dbSNP

Number of alleles fetched