Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15642040C>GCA351605800BTDc.382C>G (p.Arg128Gly)
n.1221C>G
c.148C>G (p.Arg50Gly)
c.442C>G (p.Arg148Gly)
c.448C>G (p.Arg150Gly)
c.160C>G (p.Arg54Gly)
n.517C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15642040C>TCA2277309BTDc.382C>T (p.Arg128Cys)
n.1221C>T
c.148C>T (p.Arg50Cys)
c.442C>T (p.Arg148Cys)
c.448C>T (p.Arg150Cys)
c.160C>T (p.Arg54Cys)
n.517C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched