Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756396C>ACA116706FKRPc.946C>A (p.Pro316Thr)
n.247-5437C>A
n.247+7731C>A
ClinVar dbSNP
19g.46756396C>TCA245434FKRPc.946C>T (p.Pro316Ser)
n.247-5437C>T
n.247+7731C>T
ClinVar dbSNP gnomAD

Number of alleles fetched