| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.3131647C>T | CA2823749 | HTT | c.2108C>T (p.Pro703Leu) c.1850C>T (p.Pro617Leu) n.2205C>T n.2207C>T c.2114C>T (p.Pro705Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.3131647C= | CA1434071053 | HTT | c.2108C= (p.Pro703=) c.1850C= (p.Pro617=) n.2205C= n.2207C= c.2114C= (p.Pro705=) | dbSNP |