Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46756773T>CCA507976018FKRPc.1323T>C (p.Phe441=)
n.247-5060T>C
n.247+8108T>C
dbSNP
19g.46756773T>GCA10606861FKRPc.1323T>G (p.Phe441Leu)
n.247-5060T>G
n.247+8108T>G
ClinVar dbSNP

Number of alleles fetched