| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.3160307C>T | CA2824227 | HTT | c.3779C>T (p.Thr1260Met) c.3521C>T (p.Thr1174Met) n.3876C>T n.3878C>T c.3785C>T (p.Thr1262Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.3160307C= | CA1434084635 | HTT | c.3779C= (p.Thr1260=) c.3521C= (p.Thr1174=) n.3876C= n.3878C= c.3785C= (p.Thr1262=) | dbSNP |