| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
| 8 | g.86667979_86668025del | CA2739268854 | CNGB3 | c.639_643+42del c.225_229+42del | ClinVar |
| 8 | g.86668003C= | CA1799826150 | CNGB3 | c.643+16G= (n.643+16G=) c.229+16G= (n.229+16G=) | |
| 8 | g.86668003C>G | CA1799826151 | CNGB3 | c.643+16G>C (n.643+16G>C) c.229+16G>C (n.229+16G>C) | dbSNP gnomAD v4 |
| 8 | g.86668003C>T | CA2687827182 | CNGB3 | c.643+16G>A (n.643+16G>A) c.229+16G>A (n.229+16G>A) | gnomAD v4 |
| 8 | g.86668005C= | CA1799826153 | CNGB3 | c.643+14G= (n.643+14G=) c.229+14G= (n.229+14G=) | |
| 8 | g.86668005C>G | CA2687827183 | CNGB3 | c.643+14G>C (n.643+14G>C) c.229+14G>C (n.229+14G>C) | ClinVar gnomAD v4 |
| 8 | g.86668005C>T | CA4800329 | CNGB3 | c.643+14G>A (n.643+14G>A) c.229+14G>A (n.229+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668006C>G | CA2687827184 | CNGB3 | c.643+13G>C (n.643+13G>C) c.229+13G>C (n.229+13G>C) | gnomAD v4 |
| 8 | g.86668007C>G | CA2687827185 | CNGB3 | c.643+12G>C (n.643+12G>C) c.229+12G>C (n.229+12G>C) | gnomAD v4 |
| 8 | g.86668007C>T | CA2687827186 | CNGB3 | c.643+12G>A (n.643+12G>A) c.229+12G>A (n.229+12G>A) | gnomAD v4 |
| 8 | g.86668010T>G | CA2687827187 | CNGB3 | c.643+9A>C (n.643+9A>C) c.229+9A>C (n.229+9A>C) | gnomAD v4 |
| 8 | g.86668011G>A | CA582920883 | CNGB3 | c.643+8C>T (n.643+8C>T) c.229+8C>T (n.229+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668011G>C | CA2573143407 | CNGB3 | c.643+8C>G (n.643+8C>G) c.229+8C>G (n.229+8C>G) | ClinVar dbSNP |
| 8 | g.86668011G= | CA1799826155 | CNGB3 | c.643+8C= (n.643+8C=) c.229+8C= (n.229+8C=) | |
| 8 | g.86668012A= | CA1799826156 | CNGB3 | c.643+7T= (n.643+7T=) c.229+7T= (n.229+7T=) | |
| 8 | g.86668012A>G | CA582920884 | CNGB3 | c.643+7T>C (n.643+7T>C) c.229+7T>C (n.229+7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668015A= | CA1799826158 | CNGB3 | c.643+4T= (n.643+4T=) c.229+4T= (n.229+4T=) | |
| 8 | g.86668015A>G | CA4800330 | CNGB3 | c.643+4T>C (n.643+4T>C) c.229+4T>C (n.229+4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668016T>A | CA2573143408 | CNGB3 | c.643+3A>T (n.643+3A>T) c.229+3A>T (n.229+3A>T) | ClinVar dbSNP |
| 8 | g.86668016T>C | CA2687827189 | CNGB3 | c.643+3A>G (n.643+3A>G) c.229+3A>G (n.229+3A>G) | gnomAD v4 |
| 8 | g.86668017A= | CA1799826163 | CNGB3 | c.643+2T= (n.643+2T=) c.229+2T= (n.229+2T=) | |
| 8 | g.86668017A>C | CA371449685 | CNGB3 | c.643+2T>G (n.643+2T>G) c.229+2T>G (n.229+2T>G) | |
| 8 | g.86668017A>G | CA371449686 | CNGB3 | c.643+2T>C (n.643+2T>C) c.229+2T>C (n.229+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668017A>T | CA371449687 | CNGB3 | c.643+2T>A (n.643+2T>A) c.229+2T>A (n.229+2T>A) | |
| 8 | g.86668018C>A | CA371449688 | CNGB3 | c.643+1G>T (n.643+1G>T) c.229+1G>T (n.229+1G>T) | |
| 8 | g.86668018C= | CA1799826167 | CNGB3 | c.643+1G= (n.643+1G=) c.229+1G= (n.229+1G=) | |
| 8 | g.86668018C>G | CA371449689 | CNGB3 | c.643+1G>C (n.643+1G>C) c.229+1G>C (n.229+1G>C) | |
| 8 | g.86668018C>T | CA371449690 | CNGB3 | c.643+1G>A (n.643+1G>A) c.229+1G>A (n.229+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86668019C>A | CA371449691 | CNGB3 | c.643G>T (p.Asp215Tyr) c.229G>T (p.Asp77Tyr) | |
| 8 | g.86668019C= | CA1799826171 | CNGB3 | c.643G= (p.Asp215=) c.229G= (p.Asp77=) | |
| 8 | g.86668019C>G | CA371449692 | CNGB3 | c.643G>C (p.Asp215His) c.229G>C (p.Asp77His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86668019C>T | CA371449693 | CNGB3 | c.643G>A (p.Asp215Asn) c.229G>A (p.Asp77Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668020T>A | CA461831082 | CNGB3 | c.642A>T (p.Thr214=) c.228A>T (p.Thr76=) | |
| 8 | g.86668020T>C | CA461831081 | CNGB3 | c.642A>G (p.Thr214=) c.228A>G (p.Thr76=) | gnomAD v4 |
| 8 | g.86668020T>G | CA461831080 | CNGB3 | c.642A>C (p.Thr214=) c.228A>C (p.Thr76=) | |
| 8 | g.86668021G>A | CA4800331 | CNGB3 | c.641C>T (p.Thr214Ile) c.227C>T (p.Thr76Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668021G>C | CA371449694 | CNGB3 | c.641C>G (p.Thr214Arg) c.227C>G (p.Thr76Arg) | gnomAD v4 |
| 8 | g.86668021G= | CA1799826173 | CNGB3 | c.641C= (p.Thr214=) c.227C= (p.Thr76=) | |
| 8 | g.86668021G>T | CA371449695 | CNGB3 | c.641C>A (p.Thr214Lys) c.227C>A (p.Thr76Lys) | |
| 8 | g.86668022T>A | CA371449698 | CNGB3 | c.640A>T (p.Thr214Ser) c.226A>T (p.Thr76Ser) | |
| 8 | g.86668022T>C | CA371449697 | CNGB3 | c.640A>G (p.Thr214Ala) c.226A>G (p.Thr76Ala) | gnomAD v4 |
| 8 | g.86668022T>G | CA371449696 | CNGB3 | c.640A>C (p.Thr214Pro) c.226A>C (p.Thr76Pro) | |
| 8 | g.86668023G>A | CA461831083 | CNGB3 | c.639C>T (p.Tyr213=) c.225C>T (p.Tyr75=) | |
| 8 | g.86668023G>C | CA371449699 | CNGB3 | c.639C>G (p.Tyr213Ter) c.225C>G (p.Tyr75Ter) | |
| 8 | g.86668023G>T | CA371449700 | CNGB3 | c.639C>A (p.Tyr213Ter) c.225C>A (p.Tyr75Ter) | |
| 8 | g.86668024T>A | CA371449701 | CNGB3 | c.638A>T (p.Tyr213Phe) c.224A>T (p.Tyr75Phe) | |
| 8 | g.86668024T>C | CA371449702 | CNGB3 | c.638A>G (p.Tyr213Cys) c.224A>G (p.Tyr75Cys) | gnomAD v4 |
| 8 | g.86668024T>G | CA371449703 | CNGB3 | c.638A>C (p.Tyr213Ser) c.224A>C (p.Tyr75Ser) | COSMIC |
| 8 | g.86668025A= | CA1799826175 | CNGB3 | c.637T= (p.Tyr213=) c.223T= (p.Tyr75=) |