Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.43066264C>A | CA410601677 | CBS | c.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 |
21 | g.43066264C>T | CA113885 | CBS | c.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 |
21 | g.43066264C>G | CA321097472 | CBS | c.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 |