| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667034T>A | CA371449478 | CNGB3 | c.743A>T (p.Asp248Val) c.329A>T (p.Asp110Val) | |
| 8 | g.86667034T>C | CA371449479 | CNGB3 | c.743A>G (p.Asp248Gly) c.329A>G (p.Asp110Gly) | |
| 8 | g.86667034T>G | CA371449480 | CNGB3 | c.743A>C (p.Asp248Ala) c.329A>C (p.Asp110Ala) | |
| 8 | g.86667035C>A | CA371449481 | CNGB3 | c.742G>T (p.Asp248Tyr) c.328G>T (p.Asp110Tyr) | |
| 8 | g.86667035C>G | CA371449482 | CNGB3 | c.742G>C (p.Asp248His) c.328G>C (p.Asp110His) | |
| 8 | g.86667035C>T | CA371449483 | CNGB3 | c.742G>A (p.Asp248Asn) c.328G>A (p.Asp110Asn) | |
| 8 | g.86667036T>A | CA461830945 | CNGB3 | c.741A>T (p.Ala247=) c.327A>T (p.Ala109=) | |
| 8 | g.86667036T>C | CA461830947 | CNGB3 | c.741A>G (p.Ala247=) c.327A>G (p.Ala109=) | |
| 8 | g.86667036T>G | CA461830946 | CNGB3 | c.741A>C (p.Ala247=) c.327A>C (p.Ala109=) | |
| 8 | g.86667037G>A | CA371449486 | CNGB3 | c.740C>T (p.Ala247Val) c.326C>T (p.Ala109Val) | |
| 8 | g.86667037G>C | CA371449484 | CNGB3 | c.740C>G (p.Ala247Gly) c.326C>G (p.Ala109Gly) | |
| 8 | g.86667037G>T | CA371449485 | CNGB3 | c.740C>A (p.Ala247Glu) c.326C>A (p.Ala109Glu) | |
| 8 | g.86667038C>A | CA371449487 | CNGB3 | c.739G>T (p.Ala247Ser) c.325G>T (p.Ala109Ser) | gnomAD v4 |
| 8 | g.86667038C= | CA1799825350 | CNGB3 | c.739G= (p.Ala247=) c.325G= (p.Ala109=) | |
| 8 | g.86667038C>G | CA371449488 | CNGB3 | c.739G>C (p.Ala247Pro) c.325G>C (p.Ala109Pro) | |
| 8 | g.86667038C>T | CA4800286 | CNGB3 | c.739G>A (p.Ala247Thr) c.325G>A (p.Ala109Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86667039G>A | CA4800287 | CNGB3 | c.738C>T (p.Thr246=) c.324C>T (p.Thr108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.86667039G>C | CA461830948 | CNGB3 | c.738C>G (p.Thr246=) c.324C>G (p.Thr108=) | COSMIC |
| 8 | g.86667039G= | CA1799825358 | CNGB3 | c.738C= (p.Thr246=) c.324C= (p.Thr108=) | |
| 8 | g.86667039G>T | CA461830949 | CNGB3 | c.738C>A (p.Thr246=) c.324C>A (p.Thr108=) | |
| 8 | g.86667040G>A | CA371449489 | CNGB3 | c.737C>T (p.Thr246Ile) c.323C>T (p.Thr108Ile) | |
| 8 | g.86667040G>C | CA371449490 | CNGB3 | c.737C>G (p.Thr246Ser) c.323C>G (p.Thr108Ser) | |
| 8 | g.86667040G>T | CA371449491 | CNGB3 | c.737C>A (p.Thr246Asn) c.323C>A (p.Thr108Asn) | |
| 8 | g.86667041T>A | CA371449492 | CNGB3 | c.736A>T (p.Thr246Ser) c.322A>T (p.Thr108Ser) | |
| 8 | g.86667041T>C | CA371449493 | CNGB3 | c.736A>G (p.Thr246Ala) c.322A>G (p.Thr108Ala) | gnomAD v4 |
| 8 | g.86667041T>G | CA371449494 | CNGB3 | c.736A>C (p.Thr246Pro) c.322A>C (p.Thr108Pro) | |
| 8 | g.86667042T>A | CA371449495 | CNGB3 | c.735A>T (p.Gln245His) c.321A>T (p.Gln107His) | |
| 8 | g.86667042T>C | CA461830950 | CNGB3 | c.735A>G (p.Gln245=) c.321A>G (p.Gln107=) | |
| 8 | g.86667042T>G | CA371449496 | CNGB3 | c.735A>C (p.Gln245His) c.321A>C (p.Gln107His) | |
| 8 | g.86667043T>A | CA371449498 | CNGB3 | c.734A>T (p.Gln245Leu) c.320A>T (p.Gln107Leu) | |
| 8 | g.86667043T>C | CA371449499 | CNGB3 | c.734A>G (p.Gln245Arg) c.320A>G (p.Gln107Arg) | |
| 8 | g.86667043T>G | CA371449497 | CNGB3 | c.734A>C (p.Gln245Pro) c.320A>C (p.Gln107Pro) | |
| 8 | g.86667044G>A | CA4800288 | CNGB3 | c.733C>T (p.Gln245Ter) c.319C>T (p.Gln107Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.86667044G>C | CA371449500 | CNGB3 | c.733C>G (p.Gln245Glu) c.319C>G (p.Gln107Glu) | COSMIC |
| 8 | g.86667044G= | CA1799825364 | CNGB3 | c.733C= (p.Gln245=) c.319C= (p.Gln107=) | |
| 8 | g.86667044G>T | CA371449501 | CNGB3 | c.733C>A (p.Gln245Lys) c.319C>A (p.Gln107Lys) | |
| 8 | g.86667045del | CA2519994758 | CNGB3 | c.732del (p.Gln245LysfsTer?) c.318del (p.Gln107LysfsTer?) | |
| 8 | g.86667045A>C | CA371449502 | CNGB3 | c.732T>G (p.Tyr244Ter) c.318T>G (p.Tyr106Ter) | gnomAD v4 |
| 8 | g.86667045A>G | CA461830951 | CNGB3 | c.732T>C (p.Tyr244=) c.318T>C (p.Tyr106=) | |
| 8 | g.86667045A>T | CA371449503 | CNGB3 | c.732T>A (p.Tyr244Ter) c.318T>A (p.Tyr106Ter) | |
| 8 | g.86667046T>A | CA371449504 | CNGB3 | c.731A>T (p.Tyr244Phe) c.317A>T (p.Tyr106Phe) | |
| 8 | g.86667046T>C | CA180363243 | CNGB3 | c.731A>G (p.Tyr244Cys) c.317A>G (p.Tyr106Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.86667046T>G | CA371449505 | CNGB3 | c.731A>C (p.Tyr244Ser) c.317A>C (p.Tyr106Ser) | |
| 8 | g.86667046T= | CA1799825369 | CNGB3 | c.731A= (p.Tyr244=) c.317A= (p.Tyr106=) | |
| 8 | g.86667047A>C | CA371449506 | CNGB3 | c.730T>G (p.Tyr244Asp) c.316T>G (p.Tyr106Asp) | |
| 8 | g.86667047A>G | CA371449508 | CNGB3 | c.730T>C (p.Tyr244His) c.316T>C (p.Tyr106His) | |
| 8 | g.86667047A>T | CA371449507 | CNGB3 | c.730T>A (p.Tyr244Asn) c.316T>A (p.Tyr106Asn) | |
| 8 | g.86667048T>A | CA461830952 | CNGB3 | c.729A>T (p.Pro243=) c.315A>T (p.Pro105=) | |
| 8 | g.86667048T>C | CA4800289 | CNGB3 | c.729A>G (p.Pro243=) c.315A>G (p.Pro105=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.86667048T>G | CA461830953 | CNGB3 | c.729A>C (p.Pro243=) c.315A>C (p.Pro105=) |