Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.86628994A>T | CA4800035 | CNGB3 | c.1405T>A (p.Tyr469Asn) n.1225T>A c.991T>A (p.Tyr331Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86628994A>C | CA340372 | CNGB3 | c.1405T>G (p.Tyr469Asp) n.1225T>G c.991T>G (p.Tyr331Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |