| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132264514T>C | CA148730 | SETX | c.7759A>G (p.Ile2587Val) c.2572A>G (p.Ile858Val) n.909A>G c.7846A>G (p.Ile2616Val) n.7675A>G c.2299A>G (p.Ile767Val) n.7314A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.132264514T>G | CA375323040 | SETX | c.7759A>C (p.Ile2587Leu) c.2572A>C (p.Ile858Leu) n.909A>C c.7846A>C (p.Ile2616Leu) n.7675A>C c.2299A>C (p.Ile767Leu) n.7314A>C | dbSNP |