Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.50036982A>GCA300406936MYO5Bc.120T>C
n.694T>C
c.323T>C (p.Val108Ala)
c.320T>C (p.Val107Ala)
dbSNP gnomAD v3 gnomAD v4
18g.50036982A>CCA116742MYO5Bc.120T>G
n.694T>G
c.323T>G (p.Val108Gly)
c.320T>G (p.Val107Gly)
ClinVar dbSNP

Number of alleles fetched