| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.3229927T>A | CA16616860 | HTT | c.8150T>A (p.Phe2717Tyr) c.7892T>A (p.Phe2631Tyr) c.*1357T>A (n.*1357T>A) c.7982T>A (p.Phe2661Tyr) n.9278T>A n.204T>A c.8156T>A (p.Phe2719Tyr) | ClinVar dbSNP |
| 4 | g.3229927T= | CA1434117520 | HTT | c.8150T= (p.Phe2717=) c.7892T= (p.Phe2631=) c.*1357T= (n.*1357T=) c.7982T= (p.Phe2661=) n.9278T= n.204T= c.8156T= (p.Phe2719=) | dbSNP |