| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86647872T>A | CA371448288 | CNGB3 | c.919A>T (p.Ile307Leu) n.739A>T c.505A>T (p.Ile169Leu) | |
| 8 | g.86647872T>C | CA4800218 | CNGB3 | c.919A>G (p.Ile307Val) n.739A>G c.505A>G (p.Ile169Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86647872T>G | CA371448289 | CNGB3 | c.919A>C (p.Ile307Leu) n.739A>C c.505A>C (p.Ile169Leu) | |
| 8 | g.86647872T= | CA1799830166 | CNGB3 | c.919A= (p.Ile307=) n.739A= c.505A= (p.Ile169=) | |
| 8 | g.86647873T>A | CA461816342 | CNGB3 | c.918A>T (p.Ser306=) n.738A>T c.504A>T (p.Ser168=) | gnomAD v4 |
| 8 | g.86647873T>C | CA461816344 | CNGB3 | c.918A>G (p.Ser306=) n.738A>G c.504A>G (p.Ser168=) | ClinVar dbSNP |
| 8 | g.86647873T>G | CA461816346 | CNGB3 | c.918A>C (p.Ser306=) n.738A>C c.504A>C (p.Ser168=) | |
| 8 | g.86647873T= | CA1799830168 | CNGB3 | c.918A= (p.Ser306=) n.738A= c.504A= (p.Ser168=) | |
| 8 | g.86647874G>A | CA371448290 | CNGB3 | c.917C>T (p.Ser306Leu) n.737C>T c.503C>T (p.Ser168Leu) | |
| 8 | g.86647874G>C | CA371448291 | CNGB3 | c.917C>G (p.Ser306Ter) n.737C>G c.503C>G (p.Ser168Ter) | |
| 8 | g.86647874G>T | CA371448292 | CNGB3 | c.917C>A (p.Ser306Ter) n.737C>A c.503C>A (p.Ser168Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.86647875A>C | CA371448295 | CNGB3 | c.916T>G (p.Ser306Ala) n.736T>G c.502T>G (p.Ser168Ala) | |
| 8 | g.86647875A>G | CA371448294 | CNGB3 | c.916T>C (p.Ser306Pro) n.736T>C c.502T>C (p.Ser168Pro) | gnomAD v4 |
| 8 | g.86647875A>T | CA371448293 | CNGB3 | c.916T>A (p.Ser306Thr) n.736T>A c.502T>A (p.Ser168Thr) | |
| 8 | g.86647876T>A | CA461816357 | CNGB3 | c.915A>T (p.Ala305=) n.735A>T c.501A>T (p.Ala167=) | |
| 8 | g.86647876T>C | CA461816359 | CNGB3 | c.915A>G (p.Ala305=) n.735A>G c.501A>G (p.Ala167=) | gnomAD v4 |
| 8 | g.86647876T>G | CA461816355 | CNGB3 | c.915A>C (p.Ala305=) n.735A>C c.501A>C (p.Ala167=) | |
| 8 | g.86647877G>A | CA180351483 | CNGB3 | c.914C>T (p.Ala305Val) n.734C>T c.500C>T (p.Ala167Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86647877G>C | CA371448296 | CNGB3 | c.914C>G (p.Ala305Gly) n.734C>G c.500C>G (p.Ala167Gly) | |
| 8 | g.86647877G= | CA1799830171 | CNGB3 | c.914C= (p.Ala305=) n.734C= c.500C= (p.Ala167=) | |
| 8 | g.86647877G>T | CA371448297 | CNGB3 | c.914C>A (p.Ala305Glu) n.734C>A c.500C>A (p.Ala167Glu) | gnomAD v4 |
| 8 | g.86647878C>A | CA371448298 | CNGB3 | c.913G>T (p.Ala305Ser) n.733G>T c.499G>T (p.Ala167Ser) | gnomAD v4 |
| 8 | g.86647878C= | CA1799830199 | CNGB3 | c.913G= (p.Ala305=) n.733G= c.499G= (p.Ala167=) | |
| 8 | g.86647878C>G | CA371448299 | CNGB3 | c.913G>C (p.Ala305Pro) n.733G>C c.499G>C (p.Ala167Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86647878C>T | CA4800220 | CNGB3 | c.913G>A (p.Ala305Thr) n.733G>A c.499G>A (p.Ala167Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86647879_86647881dup | CA4800219 | CNGB3 | c.911_913dup (p.Val304_Ala305insVal) n.731_733dup c.497_499dup (p.Val166_Ala167insVal) | dbSNP ExAC gnomAD v2 |
| 8 | g.86647879G>A | CA4800221 | CNGB3 | c.912C>T (p.Val304=) n.732C>T c.498C>T (p.Val166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86647879G>C | CA461816372 | CNGB3 | c.912C>G (p.Val304=) n.732C>G c.498C>G (p.Val166=) | |
| 8 | g.86647879G= | CA1799830212 | CNGB3 | c.912C= (p.Val304=) n.732C= c.498C= (p.Val166=) | |
| 8 | g.86647879G>T | CA461816370 | CNGB3 | c.912C>A (p.Val304=) n.732C>A c.498C>A (p.Val166=) | gnomAD v4 |
| 8 | g.86647880A>C | CA371448300 | CNGB3 | c.911T>G (p.Val304Gly) n.731T>G c.497T>G (p.Val166Gly) | |
| 8 | g.86647880A>G | CA371448301 | CNGB3 | c.911T>C (p.Val304Ala) n.731T>C c.497T>C (p.Val166Ala) | gnomAD v4 |
| 8 | g.86647880A>T | CA371448302 | CNGB3 | c.911T>A (p.Val304Asp) n.731T>A c.497T>A (p.Val166Asp) | COSMIC |
| 8 | g.86647881C>A | CA371448303 | CNGB3 | c.910G>T (p.Val304Phe) n.730G>T c.496G>T (p.Val166Phe) | ClinVar dbSNP |
| 8 | g.86647881C= | CA1799830217 | CNGB3 | c.910G= (p.Val304=) n.730G= c.496G= (p.Val166=) | |
| 8 | g.86647881C>G | CA371448304 | CNGB3 | c.910G>C (p.Val304Leu) n.730G>C c.496G>C (p.Val166Leu) | |
| 8 | g.86647881C>T | CA371448305 | CNGB3 | c.910G>A (p.Val304Ile) n.730G>A c.496G>A (p.Val166Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86647882A= | CA1799830224 | CNGB3 | c.909T= (p.Asp303=) n.729T= c.495T= (p.Asp165=) | |
| 8 | g.86647882A>C | CA371448306 | CNGB3 | c.909T>G (p.Asp303Glu) n.729T>G c.495T>G (p.Asp165Glu) | ClinVar |
| 8 | g.86647882A>G | CA461816384 | CNGB3 | c.909T>C (p.Asp303=) n.729T>C c.495T>C (p.Asp165=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86647882A>T | CA371448307 | CNGB3 | c.909T>A (p.Asp303Glu) n.729T>A c.495T>A (p.Asp165Glu) | gnomAD v4 |
| 8 | g.86647883T>A | CA371448308 | CNGB3 | c.908A>T (p.Asp303Val) n.728A>T c.494A>T (p.Asp165Val) | |
| 8 | g.86647883T>C | CA371448309 | CNGB3 | c.908A>G (p.Asp303Gly) n.728A>G c.494A>G (p.Asp165Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86647883T>G | CA371448310 | CNGB3 | c.908A>C (p.Asp303Ala) n.728A>C c.494A>C (p.Asp165Ala) | |
| 8 | g.86647883T= | CA1799830235 | CNGB3 | c.908A= (p.Asp303=) n.728A= c.494A= (p.Asp165=) | |
| 8 | g.86647884C>A | CA371448311 | CNGB3 | c.907G>T (p.Asp303Tyr) n.727G>T c.493G>T (p.Asp165Tyr) | |
| 8 | g.86647884C>G | CA371448312 | CNGB3 | c.907G>C (p.Asp303His) n.727G>C c.493G>C (p.Asp165His) | |
| 8 | g.86647884C>T | CA371448313 | CNGB3 | c.907G>A (p.Asp303Asn) n.727G>A c.493G>A (p.Asp165Asn) | gnomAD v4 |
| 8 | g.86647885C>A | CA371448314 | CNGB3 | c.906G>T (p.Leu302Phe) n.726G>T c.492G>T (p.Leu164Phe) | |
| 8 | g.86647885C= | CA1799830242 | CNGB3 | c.906G= (p.Leu302=) n.726G= c.492G= (p.Leu164=) |