Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756837A>GCA116728FKRPc.1387A>G (p.Asn463Asp)
n.247-4996A>G
n.247+8172A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46756837A=CA2339067830FKRPc.1387A= (p.Asn463=)
n.247-4996A=
n.247+8172A=
 dbSNP

Number of alleles fetched