| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
| 8 | g.86668102_86668106delinsAGCCT | CA1799826291 | CNGB3 | c.556_560delinsAGGCT (p.Arg186=) c.142_146delinsAGGCT (p.Arg48=) | |
| 8 | g.86668103G>A | CA461831129 | CNGB3 | c.559C>T (p.Leu187=) c.145C>T (p.Leu49=) | |
| 8 | g.86668103G>C | CA371449872 | CNGB3 | c.559C>G (p.Leu187Val) c.145C>G (p.Leu49Val) | |
| 8 | g.86668103G>T | CA371449873 | CNGB3 | c.559C>A (p.Leu187Met) c.145C>A (p.Leu49Met) | |
| 8 | g.86668104_86668107del | CA16041196 | CNGB3 | c.556_559del (p.Arg186CysfsTer11) c.142_145del (p.Arg48CysfsTer11) | ClinVar dbSNP |
| 8 | g.86668104C>A | CA371449874 | CNGB3 | c.558G>T (p.Arg186Ser) c.144G>T (p.Arg48Ser) | |
| 8 | g.86668104C>G | CA371449875 | CNGB3 | c.558G>C (p.Arg186Ser) c.144G>C (p.Arg48Ser) | gnomAD v4 |
| 8 | g.86668104C>T | CA461831130 | CNGB3 | c.558G>A (p.Arg186=) c.144G>A (p.Arg48=) | gnomAD v4 |
| 8 | g.86668105C>A | CA371449878 | CNGB3 | c.557G>T (p.Arg186Met) c.143G>T (p.Arg48Met) | |
| 8 | g.86668105C>G | CA371449877 | CNGB3 | c.557G>C (p.Arg186Thr) c.143G>C (p.Arg48Thr) | |
| 8 | g.86668105C>T | CA371449876 | CNGB3 | c.557G>A (p.Arg186Lys) c.143G>A (p.Arg48Lys) | |
| 8 | g.86668106T>A | CA371449879 | CNGB3 | c.556A>T (p.Arg186Trp) c.142A>T (p.Arg48Trp) | gnomAD v4 |
| 8 | g.86668106T>C | CA371449880 | CNGB3 | c.556A>G (p.Arg186Gly) c.142A>G (p.Arg48Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668106T>G | CA461831131 | CNGB3 | c.556A>C (p.Arg186=) c.142A>C (p.Arg48=) | |
| 8 | g.86668106T= | CA1799826297 | CNGB3 | c.556A= (p.Arg186=) c.142A= (p.Arg48=) | |
| 8 | g.86668107G>A | CA461831132 | CNGB3 | c.555C>T (p.Tyr185=) c.141C>T (p.Tyr47=) | gnomAD v4 |
| 8 | g.86668107G>C | CA371449881 | CNGB3 | c.555C>G (p.Tyr185Ter) c.141C>G (p.Tyr47Ter) | |
| 8 | g.86668107G>T | CA371449882 | CNGB3 | c.555C>A (p.Tyr185Ter) c.141C>A (p.Tyr47Ter) | |
| 8 | g.86668108T>A | CA371449883 | CNGB3 | c.554A>T (p.Tyr185Phe) c.140A>T (p.Tyr47Phe) | |
| 8 | g.86668108T>C | CA371449884 | CNGB3 | c.554A>G (p.Tyr185Cys) c.140A>G (p.Tyr47Cys) | |
| 8 | g.86668108T>G | CA371449885 | CNGB3 | c.554A>C (p.Tyr185Ser) c.140A>C (p.Tyr47Ser) | |
| 8 | g.86668109A= | CA1799826301 | CNGB3 | c.553T= (p.Tyr185=) c.139T= (p.Tyr47=) | |
| 8 | g.86668109A>C | CA371449886 | CNGB3 | c.553T>G (p.Tyr185Asp) c.139T>G (p.Tyr47Asp) | |
| 8 | g.86668109A>G | CA371449887 | CNGB3 | c.553T>C (p.Tyr185His) c.139T>C (p.Tyr47His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86668109A>T | CA371449888 | CNGB3 | c.553T>A (p.Tyr185Asn) c.139T>A (p.Tyr47Asn) | |
| 8 | g.86668110G>A | CA461831133 | CNGB3 | c.552C>T (p.Tyr184=) c.138C>T (p.Tyr46=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86668110G>C | CA371449889 | CNGB3 | c.552C>G (p.Tyr184Ter) c.138C>G (p.Tyr46Ter) | |
| 8 | g.86668110G= | CA1799826303 | CNGB3 | c.552C= (p.Tyr184=) c.138C= (p.Tyr46=) | |
| 8 | g.86668110G>T | CA371449890 | CNGB3 | c.552C>A (p.Tyr184Ter) c.138C>A (p.Tyr46Ter) | ClinVar |
| 8 | g.86668111T>A | CA371449891 | CNGB3 | c.551A>T (p.Tyr184Phe) c.137A>T (p.Tyr46Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668111T>C | CA371449893 | CNGB3 | c.551A>G (p.Tyr184Cys) c.137A>G (p.Tyr46Cys) | dbSNP gnomAD v4 |
| 8 | g.86668111T>G | CA371449892 | CNGB3 | c.551A>C (p.Tyr184Ser) c.137A>C (p.Tyr46Ser) | |
| 8 | g.86668111T= | CA1799826306 | CNGB3 | c.551A= (p.Tyr184=) c.137A= (p.Tyr46=) | |
| 8 | g.86668112A>C | CA371449894 | CNGB3 | c.550T>G (p.Tyr184Asp) c.136T>G (p.Tyr46Asp) | |
| 8 | g.86668112A>G | CA371449896 | CNGB3 | c.550T>C (p.Tyr184His) c.136T>C (p.Tyr46His) | |
| 8 | g.86668112A>T | CA371449895 | CNGB3 | c.550T>A (p.Tyr184Asn) c.136T>A (p.Tyr46Asn) | |
| 8 | g.86668113A>C | CA371449897 | CNGB3 | c.549T>G (p.His183Gln) c.135T>G (p.His45Gln) | |
| 8 | g.86668113A>G | CA461831134 | CNGB3 | c.549T>C (p.His183=) c.135T>C (p.His45=) | ClinVar dbSNP |
| 8 | g.86668113A>T | CA371449898 | CNGB3 | c.549T>A (p.His183Gln) c.135T>A (p.His45Gln) | |
| 8 | g.86668114T>A | CA371449899 | CNGB3 | c.548A>T (p.His183Leu) c.134A>T (p.His45Leu) | gnomAD v4 |
| 8 | g.86668114T>C | CA371449900 | CNGB3 | c.548A>G (p.His183Arg) c.134A>G (p.His45Arg) | |
| 8 | g.86668114T>G | CA371449901 | CNGB3 | c.548A>C (p.His183Pro) c.134A>C (p.His45Pro) | |
| 8 | g.86668115G>A | CA371449902 | CNGB3 | c.547C>T (p.His183Tyr) c.133C>T (p.His45Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668115G>C | CA371449903 | CNGB3 | c.547C>G (p.His183Asp) c.133C>G (p.His45Asp) | ClinVar dbSNP |
| 8 | g.86668115G= | CA1799826309 | CNGB3 | c.547C= (p.His183=) c.133C= (p.His45=) | |
| 8 | g.86668115G>T | CA371449904 | CNGB3 | c.547C>A (p.His183Asn) c.133C>A (p.His45Asn) | |
| 8 | g.86668116T>A | CA371449905 | CNGB3 | c.546A>T (p.Glu182Asp) c.132A>T (p.Glu44Asp) | |
| 8 | g.86668116T>C | CA461831135 | CNGB3 | c.546A>G (p.Glu182=) c.132A>G (p.Glu44=) | COSMIC |
| 8 | g.86668116T>G | CA371449906 | CNGB3 | c.546A>C (p.Glu182Asp) c.132A>C (p.Glu44Asp) |