| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667131G>A | CA274029 | CNGB3 | c.646C>T (p.Arg216Ter) c.232C>T (p.Arg78Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86667131G= | CA1799825591 | CNGB3 | c.646C= (p.Arg216=) c.232C= (p.Arg78=) | dbSNP |
| 8 | g.86667131G>T | CA461831009 | CNGB3 | c.646C>A (p.Arg216=) c.232C>A (p.Arg78=) | dbSNP gnomAD v4 |