Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43066264C>ACA410601677CBSc.430G>T (p.Glu144Ter)
n.741G>T
n.873G>T
c.481G>T (p.Glu161Ter)
c.115G>T (p.Glu39Ter)
n.801G>T
n.580G>T
ClinVar dbSNP gnomAD v4
21g.43066264C>TCA113885CBSc.430G>A (p.Glu144Lys)
n.741G>A
n.873G>A
c.481G>A (p.Glu161Lys)
c.115G>A (p.Glu39Lys)
n.801G>A
n.580G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066264C>GCA321097472CBSc.430G>C (p.Glu144Gln)
n.741G>C
n.873G>C
c.481G>C (p.Glu161Gln)
c.115G>C (p.Glu39Gln)
n.801G>C
n.580G>C
ClinVar dbSNP

Number of alleles fetched