| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.65190194C>T | CA235987 | RGS9 | c.704C>T (p.Ala235Val) c.695C>T (p.Ala232Val) n.632C>T n.712C>T c.116C>T (p.Ala39Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.65190194C>G | CA400664270 | RGS9 | c.704C>G (p.Ala235Gly) c.695C>G (p.Ala232Gly) n.632C>G n.712C>G c.116C>G (p.Ala39Gly) | dbSNP |
| 17 | g.65190194C= | CA2270719914 | RGS9 | c.704C= (p.Ala235=) c.695C= (p.Ala232=) n.632C= n.712C= c.116C= (p.Ala39=) | dbSNP |