| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.3146926T>G | CA2824092 | HTT | c.3273T>G (p.Ile1091Met) c.3015T>G (p.Ile1005Met) n.3370T>G n.3372T>G c.3279T>G (p.Ile1093Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.3146926T= | CA1434078229 | HTT | c.3273T= (p.Ile1091=) c.3015T= (p.Ile1005=) n.3370T= n.3372T= c.3279T= (p.Ile1093=) | dbSNP |