Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756793C>TCA116699FKRPc.1343C>T (p.Pro448Leu)
n.247-5040C>T
n.247+8128C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46756793C=CA2339067806FKRPc.1343C= (p.Pro448=)
n.247-5040C=
n.247+8128C=
 dbSNP

Number of alleles fetched