Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99318127T>G | CA101652540 | ADH1B | c.178A>C (p.Thr60Pro) n.232A>C c.58A>C (p.Thr20Pro) n.2273A>C n.741A>C | dbSNP |
4 | g.99318127T>A | CA3020057 | ADH1B | c.178A>T (p.Thr60Ser) n.232A>T c.58A>T (p.Thr20Ser) n.2273A>T n.741A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99318127T= | CA1479946697 | ADH1B | c.178A= (p.Thr60=) n.232A= c.58A= (p.Thr20=) n.2273A= n.741A= | dbSNP |