Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46755970A>TCA200251FKRPc.520A>T (p.Ser174Cys)
c.91A>T (p.Ser31Cys)
n.247-5863A>T
n.247+7305A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755970A>GCA406495488FKRPc.520A>G (p.Ser174Gly)
c.91A>G (p.Ser31Gly)
n.247-5863A>G
n.247+7305A>G
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched