| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.3233253G>T | CA2825673 | HTT | c.8356G>T (p.Val2786Phe) c.8098G>T (p.Val2700Phe) c.*1563G>T (n.*1563G>T) c.8188G>T (p.Val2730Phe) n.9484G>T n.320-2031G>T c.8362G>T (p.Val2788Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.3233253G>A | CA2825672 | HTT | c.8356G>A (p.Val2786Ile) c.8098G>A (p.Val2700Ile) c.*1563G>A (n.*1563G>A) c.8188G>A (p.Val2730Ile) n.9484G>A n.320-2031G>A c.8362G>A (p.Val2788Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |