Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43066294C>GCA321097659CBSc.400G>C (p.Gly134Arg)
n.711G>C
n.843G>C
c.451G>C (p.Gly151Arg)
c.85G>C (p.Gly29Arg)
n.771G>C
n.550G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066294C>TCA320927CBSc.400G>A (p.Gly134Arg)
n.711G>A
n.843G>A
c.451G>A (p.Gly151Arg)
c.85G>A (p.Gly29Arg)
n.771G>A
n.550G>A
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched