| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86654023T>C | CA371448409 | CNGB3 | c.892A>G (p.Thr298Ala) n.712A>G c.478A>G (p.Thr160Ala) | dbSNP |
| 8 | g.86654023T>G | CA149053 | CNGB3 | c.892A>C (p.Thr298Pro) n.712A>C c.478A>C (p.Thr160Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86654023T>A | CA4800240 | CNGB3 | c.892A>T (p.Thr298Ser) n.712A>T c.478A>T (p.Thr160Ser) | dbSNP ExAC gnomAD v4 |
| 8 | g.86654023T= | CA1630835186 | CNGB3 | c.892A= (p.Thr298=) n.712A= c.478A= (p.Thr160=) | dbSNP |