Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.86654019_86654029delinsA | CA10631620 | CNGB3 | c.886_896delinsT (p.Thr296TyrfsTer9) n.706_716delinsT c.472_482delinsT (p.Thr158TyrfsTer9) | ClinVar dbSNP |
8 | g.86654020_86654029del | CA856349209 | CNGB3 | c.887_896del (p.Thr296AsnfsTer9) n.707_716del c.473_482del (p.Thr158AsnfsTer9) | dbSNP |