| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98393909_98399093del | CA2499216316 | CNGA3 | c.785-1935_*1838del c.839-1935_*1838del | ClinVar |
| 2 | g.98396018G>A | CA254821 | CNGA3 | c.848G>A (p.Arg283Gln) c.860G>A (p.Arg287Gln) c.794G>A (p.Arg265Gln) c.959G>A (p.Arg320Gln) c.1013G>A (p.Arg338Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.98396018G>C | CA347832267 | CNGA3 | c.848G>C (p.Arg283Pro) c.860G>C (p.Arg287Pro) c.794G>C (p.Arg265Pro) c.959G>C (p.Arg320Pro) c.1013G>C (p.Arg338Pro) | ClinVar |
| 2 | g.98396018G= | CA1273419725 | CNGA3 | c.848G= (p.Arg283=) c.860G= (p.Arg287=) c.794G= (p.Arg265=) c.959G= (p.Arg320=) c.1013G= (p.Arg338=) | |
| 2 | g.98396018G>T | CA347832268 | CNGA3 | c.848G>T (p.Arg283Leu) c.860G>T (p.Arg287Leu) c.794G>T (p.Arg265Leu) c.959G>T (p.Arg320Leu) c.1013G>T (p.Arg338Leu) | COSMIC |
| 2 | g.98396019G>A | CA1793909 | CNGA3 | c.849G>A (p.Arg283=) c.861G>A (p.Arg287=) c.795G>A (p.Arg265=) c.960G>A (p.Arg320=) c.1014G>A (p.Arg338=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.98396019G>C | CA427568681 | CNGA3 | c.849G>C (p.Arg283=) c.861G>C (p.Arg287=) c.795G>C (p.Arg265=) c.960G>C (p.Arg320=) c.1014G>C (p.Arg338=) | |
| 2 | g.98396019G= | CA1273419726 | CNGA3 | c.849G= (p.Arg283=) c.861G= (p.Arg287=) c.795G= (p.Arg265=) c.960G= (p.Arg320=) c.1014G= (p.Arg338=) | |
| 2 | g.98396019G>T | CA427568683 | CNGA3 | c.849G>T (p.Arg283=) c.861G>T (p.Arg287=) c.795G>T (p.Arg265=) c.960G>T (p.Arg320=) c.1014G>T (p.Arg338=) | |
| 2 | g.98396020C>A | CA347832269 | CNGA3 | c.850C>A (p.Leu284Ile) c.862C>A (p.Leu288Ile) c.796C>A (p.Leu266Ile) c.961C>A (p.Leu321Ile) c.1015C>A (p.Leu339Ile) | gnomAD v4 |
| 2 | g.98396020C>G | CA347832270 | CNGA3 | c.850C>G (p.Leu284Val) c.862C>G (p.Leu288Val) c.796C>G (p.Leu266Val) c.961C>G (p.Leu321Val) c.1015C>G (p.Leu339Val) | COSMIC |
| 2 | g.98396020C>T | CA347832271 | CNGA3 | c.850C>T (p.Leu284Phe) c.862C>T (p.Leu288Phe) c.796C>T (p.Leu266Phe) c.961C>T (p.Leu321Phe) c.1015C>T (p.Leu339Phe) | gnomAD v4 |
| 2 | g.98396020_98396021delinsCT | CA1273419727 | CNGA3 | c.850_851delinsCT (p.Leu284=) c.862_863delinsCT (p.Leu288=) c.796_797delinsCT (p.Leu266=) c.961_962delinsCT (p.Leu321=) c.1015_1016delinsCT (p.Leu339=) | |
| 2 | g.98396021del | CA895882484 | CNGA3 | c.851del (p.Leu284ProfsTer?) c.863del (p.Leu288ProfsTer?) c.797del (p.Leu266ProfsTer?) c.962del (p.Leu321ProfsTer?) c.1016del (p.Leu339ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 2 | g.98396021T>A | CA347832272 | CNGA3 | c.851T>A (p.Leu284His) c.863T>A (p.Leu288His) c.797T>A (p.Leu266His) c.962T>A (p.Leu321His) c.1016T>A (p.Leu339His) | |
| 2 | g.98396021T>C | CA347832273 | CNGA3 | c.851T>C (p.Leu284Pro) c.863T>C (p.Leu288Pro) c.797T>C (p.Leu266Pro) c.962T>C (p.Leu321Pro) c.1016T>C (p.Leu339Pro) | |
| 2 | g.98396021T>G | CA347832274 | CNGA3 | c.851T>G (p.Leu284Arg) c.863T>G (p.Leu288Arg) c.797T>G (p.Leu266Arg) c.962T>G (p.Leu321Arg) c.1016T>G (p.Leu339Arg) | |
| 2 | g.98396022C>A | CA427568691 | CNGA3 | c.852C>A (p.Leu284=) c.864C>A (p.Leu288=) c.798C>A (p.Leu266=) c.963C>A (p.Leu321=) c.1017C>A (p.Leu339=) | |
| 2 | g.98396022C= | CA1273419728 | CNGA3 | c.852C= (p.Leu284=) c.864C= (p.Leu288=) c.798C= (p.Leu266=) c.963C= (p.Leu321=) c.1017C= (p.Leu339=) | |
| 2 | g.98396022C>G | CA427568692 | CNGA3 | c.852C>G (p.Leu284=) c.864C>G (p.Leu288=) c.798C>G (p.Leu266=) c.963C>G (p.Leu321=) c.1017C>G (p.Leu339=) | |
| 2 | g.98396022C>T | CA1793910 | CNGA3 | c.852C>T (p.Leu284=) c.864C>T (p.Leu288=) c.798C>T (p.Leu266=) c.963C>T (p.Leu321=) c.1017C>T (p.Leu339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.98396023T>A | CA347832275 | CNGA3 | c.853T>A (p.Phe285Ile) c.865T>A (p.Phe289Ile) c.799T>A (p.Phe267Ile) c.964T>A (p.Phe322Ile) c.1018T>A (p.Phe340Ile) | |
| 2 | g.98396023T>C | CA347832276 | CNGA3 | c.853T>C (p.Phe285Leu) c.865T>C (p.Phe289Leu) c.799T>C (p.Phe267Leu) c.964T>C (p.Phe322Leu) c.1018T>C (p.Phe340Leu) | |
| 2 | g.98396023T>G | CA347832277 | CNGA3 | c.853T>G (p.Phe285Val) c.865T>G (p.Phe289Val) c.799T>G (p.Phe267Val) c.964T>G (p.Phe322Val) c.1018T>G (p.Phe340Val) | |
| 2 | g.98396024T>A | CA347832278 | CNGA3 | c.854T>A (p.Phe285Tyr) c.866T>A (p.Phe289Tyr) c.800T>A (p.Phe267Tyr) c.965T>A (p.Phe322Tyr) c.1019T>A (p.Phe340Tyr) | |
| 2 | g.98396024T>C | CA347832279 | CNGA3 | c.854T>C (p.Phe285Ser) c.866T>C (p.Phe289Ser) c.800T>C (p.Phe267Ser) c.965T>C (p.Phe322Ser) c.1019T>C (p.Phe340Ser) | |
| 2 | g.98396024T>G | CA347832280 | CNGA3 | c.854T>G (p.Phe285Cys) c.866T>G (p.Phe289Cys) c.800T>G (p.Phe267Cys) c.965T>G (p.Phe322Cys) c.1019T>G (p.Phe340Cys) | |
| 2 | g.98396025T>A | CA347832281 | CNGA3 | c.855T>A (p.Phe285Leu) c.867T>A (p.Phe289Leu) c.801T>A (p.Phe267Leu) c.966T>A (p.Phe322Leu) c.1020T>A (p.Phe340Leu) | |
| 2 | g.98396025T>C | CA427568707 | CNGA3 | c.855T>C (p.Phe285=) c.867T>C (p.Phe289=) c.801T>C (p.Phe267=) c.966T>C (p.Phe322=) c.1020T>C (p.Phe340=) | gnomAD v4 |
| 2 | g.98396025T>G | CA347832282 | CNGA3 | c.855T>G (p.Phe285Leu) c.867T>G (p.Phe289Leu) c.801T>G (p.Phe267Leu) c.966T>G (p.Phe322Leu) c.1020T>G (p.Phe340Leu) | |
| 2 | g.98396026G>A | CA347832283 | CNGA3 | c.856G>A (p.Glu286Lys) c.868G>A (p.Glu290Lys) c.802G>A (p.Glu268Lys) c.967G>A (p.Glu323Lys) c.1021G>A (p.Glu341Lys) | COSMIC |
| 2 | g.98396026G>C | CA347832284 | CNGA3 | c.856G>C (p.Glu286Gln) c.868G>C (p.Glu290Gln) c.802G>C (p.Glu268Gln) c.967G>C (p.Glu323Gln) c.1021G>C (p.Glu341Gln) | |
| 2 | g.98396026G>T | CA347832285 | CNGA3 | c.856G>T (p.Glu286Ter) c.868G>T (p.Glu290Ter) c.802G>T (p.Glu268Ter) c.967G>T (p.Glu323Ter) c.1021G>T (p.Glu341Ter) | |
| 2 | g.98396027A>C | CA347832288 | CNGA3 | c.857A>C (p.Glu286Ala) c.869A>C (p.Glu290Ala) c.803A>C (p.Glu268Ala) c.968A>C (p.Glu323Ala) c.1022A>C (p.Glu341Ala) | |
| 2 | g.98396027A>G | CA347832287 | CNGA3 | c.857A>G (p.Glu286Gly) c.869A>G (p.Glu290Gly) c.803A>G (p.Glu268Gly) c.968A>G (p.Glu323Gly) c.1022A>G (p.Glu341Gly) | |
| 2 | g.98396027A>T | CA347832286 | CNGA3 | c.857A>T (p.Glu286Val) c.869A>T (p.Glu290Val) c.803A>T (p.Glu268Val) c.968A>T (p.Glu323Val) c.1022A>T (p.Glu341Val) | |
| 2 | g.98396028A>C | CA347832289 | CNGA3 | c.858A>C (p.Glu286Asp) c.870A>C (p.Glu290Asp) c.804A>C (p.Glu268Asp) c.969A>C (p.Glu323Asp) c.1023A>C (p.Glu341Asp) | |
| 2 | g.98396028A>G | CA427568723 | CNGA3 | c.858A>G (p.Glu286=) c.870A>G (p.Glu290=) c.804A>G (p.Glu268=) c.969A>G (p.Glu323=) c.1023A>G (p.Glu341=) | |
| 2 | g.98396028A>T | CA347832290 | CNGA3 | c.858A>T (p.Glu286Asp) c.870A>T (p.Glu290Asp) c.804A>T (p.Glu268Asp) c.969A>T (p.Glu323Asp) c.1023A>T (p.Glu341Asp) | |
| 2 | g.98396029T>A | CA347832291 | CNGA3 | c.859T>A (p.Phe287Ile) c.871T>A (p.Phe291Ile) c.805T>A (p.Phe269Ile) c.970T>A (p.Phe324Ile) c.1024T>A (p.Phe342Ile) | gnomAD v4 |
| 2 | g.98396029T>C | CA347832292 | CNGA3 | c.859T>C (p.Phe287Leu) c.871T>C (p.Phe291Leu) c.805T>C (p.Phe269Leu) c.970T>C (p.Phe324Leu) c.1024T>C (p.Phe342Leu) | |
| 2 | g.98396029T>G | CA347832293 | CNGA3 | c.859T>G (p.Phe287Val) c.871T>G (p.Phe291Val) c.805T>G (p.Phe269Val) c.970T>G (p.Phe324Val) c.1024T>G (p.Phe342Val) | |
| 2 | g.98396030T>A | CA1793911 | CNGA3 | c.860T>A (p.Phe287Tyr) c.872T>A (p.Phe291Tyr) c.806T>A (p.Phe269Tyr) c.971T>A (p.Phe324Tyr) c.1025T>A (p.Phe342Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.98396030T>C | CA347832295 | CNGA3 | c.860T>C (p.Phe287Ser) c.872T>C (p.Phe291Ser) c.806T>C (p.Phe269Ser) c.971T>C (p.Phe324Ser) c.1025T>C (p.Phe342Ser) | |
| 2 | g.98396030T>G | CA347832294 | CNGA3 | c.860T>G (p.Phe287Cys) c.872T>G (p.Phe291Cys) c.806T>G (p.Phe269Cys) c.971T>G (p.Phe324Cys) c.1025T>G (p.Phe342Cys) | gnomAD v4 |
| 2 | g.98396030T= | CA1273419729 | CNGA3 | c.860T= (p.Phe287=) c.872T= (p.Phe291=) c.806T= (p.Phe269=) c.971T= (p.Phe324=) c.1025T= (p.Phe342=) | |
| 2 | g.98396031C>A | CA347832296 | CNGA3 | c.861C>A (p.Phe287Leu) c.873C>A (p.Phe291Leu) c.807C>A (p.Phe269Leu) c.972C>A (p.Phe324Leu) c.1026C>A (p.Phe342Leu) | gnomAD v4 COSMIC |
| 2 | g.98396031C= | CA1273419730 | CNGA3 | c.861C= (p.Phe287=) c.873C= (p.Phe291=) c.807C= (p.Phe269=) c.972C= (p.Phe324=) c.1026C= (p.Phe342=) | |
| 2 | g.98396031C>G | CA347832297 | CNGA3 | c.861C>G (p.Phe287Leu) c.873C>G (p.Phe291Leu) c.807C>G (p.Phe269Leu) c.972C>G (p.Phe324Leu) c.1026C>G (p.Phe342Leu) | |
| 2 | g.98396031C>T | CA52635310 | CNGA3 | c.861C>T (p.Phe287=) c.873C>T (p.Phe291=) c.807C>T (p.Phe269=) c.972C>T (p.Phe324=) c.1026C>T (p.Phe342=) | dbSNP gnomAD v3 gnomAD v4 |