| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.63996406G>A | CA152021 | ATXN7 | c.2584G>A (p.Val862Met) n.3137G>A c.2149G>A (p.Val717Met) c.97G>A (p.Val33Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.63996406G>T | CA2478881 | ATXN7 | c.2584G>T (p.Val862Leu) n.3137G>T c.2149G>T (p.Val717Leu) c.97G>T (p.Val33Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |