| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667111_86675520del | CA658797120 | CNGB3 | c.339-4415_673del c.-76-4415_259del | ClinVar |
| 8 | g.86668094_86668095delinsAC | CA1799826270 | CNGB3 | c.567_568delinsGT (p.Trp189=) c.153_154delinsGT (p.Trp51=) | |
| 8 | g.86668095C>A | CA371449855 | CNGB3 | c.567G>T (p.Trp189Cys) c.153G>T (p.Trp51Cys) | |
| 8 | g.86668095C= | CA1799826277 | CNGB3 | c.567G= (p.Trp189=) c.153G= (p.Trp51=) | |
| 8 | g.86668095C>G | CA371449856 | CNGB3 | c.567G>C (p.Trp189Cys) c.153G>C (p.Trp51Cys) | gnomAD v4 |
| 8 | g.86668095C>T | CA371449857 | CNGB3 | c.567G>A (p.Trp189Ter) c.153G>A (p.Trp51Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.86668096del | CA16041195 | CNGB3 | c.567del (p.Trp189CysfsTer9) c.153del (p.Trp51CysfsTer9) | ClinVar dbSNP |
| 8 | g.86668096C>A | CA371449858 | CNGB3 | c.566G>T (p.Trp189Leu) c.152G>T (p.Trp51Leu) | |
| 8 | g.86668096C= | CA1799826281 | CNGB3 | c.566G= (p.Trp189=) c.152G= (p.Trp51=) | |
| 8 | g.86668096C>G | CA371449859 | CNGB3 | c.566G>C (p.Trp189Ser) c.152G>C (p.Trp51Ser) | |
| 8 | g.86668096C>T | CA371449860 | CNGB3 | c.566G>A (p.Trp189Ter) c.152G>A (p.Trp51Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86668097A>C | CA371449861 | CNGB3 | c.565T>G (p.Trp189Gly) c.151T>G (p.Trp51Gly) | |
| 8 | g.86668097A>G | CA371449862 | CNGB3 | c.565T>C (p.Trp189Arg) c.151T>C (p.Trp51Arg) | |
| 8 | g.86668097A>T | CA371449863 | CNGB3 | c.565T>A (p.Trp189Arg) c.151T>A (p.Trp51Arg) | |
| 8 | g.86668098C>A | CA371449865 | CNGB3 | c.564G>T (p.Leu188Phe) c.150G>T (p.Leu50Phe) | |
| 8 | g.86668098C>G | CA371449864 | CNGB3 | c.564G>C (p.Leu188Phe) c.150G>C (p.Leu50Phe) | |
| 8 | g.86668098C>T | CA461831125 | CNGB3 | c.564G>A (p.Leu188=) c.150G>A (p.Leu50=) | |
| 8 | g.86668099A= | CA1799826284 | CNGB3 | c.563T= (p.Leu188=) c.149T= (p.Leu50=) | |
| 8 | g.86668099A>C | CA180364069 | CNGB3 | c.563T>G (p.Leu188Trp) c.149T>G (p.Leu50Trp) | dbSNP |
| 8 | g.86668099A>G | CA371449867 | CNGB3 | c.563T>C (p.Leu188Ser) c.149T>C (p.Leu50Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86668099A>T | CA371449866 | CNGB3 | c.563T>A (p.Leu188Ter) c.149T>A (p.Leu50Ter) | |
| 8 | g.86668100A= | CA1799826287 | CNGB3 | c.562T= (p.Leu188=) c.148T= (p.Leu50=) | |
| 8 | g.86668100A>C | CA4800351 | CNGB3 | c.562T>G (p.Leu188Val) c.148T>G (p.Leu50Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86668100A>G | CA4800352 | CNGB3 | c.562T>C (p.Leu188=) c.148T>C (p.Leu50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668100A>T | CA371449868 | CNGB3 | c.562T>A (p.Leu188Met) c.148T>A (p.Leu50Met) | |
| 8 | g.86668101C>A | CA461831126 | CNGB3 | c.561G>T (p.Leu187=) c.147G>T (p.Leu49=) | |
| 8 | g.86668101C>G | CA461831127 | CNGB3 | c.561G>C (p.Leu187=) c.147G>C (p.Leu49=) | |
| 8 | g.86668101C>T | CA461831128 | CNGB3 | c.561G>A (p.Leu187=) c.147G>A (p.Leu49=) | |
| 8 | g.86668102A>C | CA371449869 | CNGB3 | c.560T>G (p.Leu187Arg) c.146T>G (p.Leu49Arg) | |
| 8 | g.86668102A>G | CA371449870 | CNGB3 | c.560T>C (p.Leu187Pro) c.146T>C (p.Leu49Pro) | |
| 8 | g.86668102A>T | CA371449871 | CNGB3 | c.560T>A (p.Leu187Gln) c.146T>A (p.Leu49Gln) | |
| 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) |