| 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 | |
| 8 | g.86667995T>C | CA582920882 | CNGB3 | c.643+24A>G (n.643+24A>G) c.229+24A>G (n.229+24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86667995T= | CA1799826145 | CNGB3 | c.643+24A= (n.643+24A=) c.229+24A= (n.229+24A=) | |
| 8 | g.86667996G>A | CA2687827179 | CNGB3 | c.643+23C>T (n.643+23C>T) c.229+23C>T (n.229+23C>T) | gnomAD v4 |
| 8 | g.86667997A>G | CA2687827180 | CNGB3 | c.643+22T>C (n.643+22T>C) c.229+22T>C (n.229+22T>C) | gnomAD v4 |
| 8 | g.86667998T>A | CA2579200147 | CNGB3 | c.643+21A>T (n.643+21A>T) c.229+21A>T (n.229+21A>T) | |
| 8 | g.86667999A>G | CA2687827181 | CNGB3 | c.643+20T>C (n.643+20T>C) c.229+20T>C (n.229+20T>C) | gnomAD v4 |
| 8 | g.86668000A>G | CA2697549988 | CNGB3 | c.643+19T>C (n.643+19T>C) c.229+19T>C (n.229+19T>C) | |
| 8 | g.86668001T>C | CA4800327 | CNGB3 | c.643+18A>G (n.643+18A>G) c.229+18A>G (n.229+18A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668001T= | CA1799826147 | CNGB3 | c.643+18A= (n.643+18A=) c.229+18A= (n.229+18A=) | |
| 8 | g.86668002T>A | CA4800328 | CNGB3 | c.643+17A>T (n.643+17A>T) c.229+17A>T (n.229+17A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668002T= | CA1799826149 | CNGB3 | c.643+17A= (n.643+17A=) c.229+17A= (n.229+17A=) | |
| 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) | 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) | 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) | 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=) |