| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4955105G>A | CA397289805 | ENO3 | c.475G>A (p.Ala159Thr) c.346G>A (p.Ala116Thr) c.*421G>A (n.*421G>A) c.502G>A (p.Ala168Thr) | gnomAD v4 |
| 17 | g.4955105G>C | CA397289804 | ENO3 | c.475G>C (p.Ala159Pro) c.346G>C (p.Ala116Pro) c.*421G>C (n.*421G>C) c.502G>C (p.Ala168Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955105G= | CA2244628109 | ENO3 | c.475G= (p.Ala159=) c.346G= (p.Ala116=) c.*421G= (n.*421G=) c.502G= (p.Ala168=) | |
| 17 | g.4955105G>T | CA397289803 | ENO3 | c.475G>T (p.Ala159Ser) c.346G>T (p.Ala116Ser) c.*421G>T (n.*421G>T) c.502G>T (p.Ala168Ser) | dbSNP gnomAD v4 |
| 17 | g.4955106C>A | CA397289806 | ENO3 | c.476C>A (p.Ala159Asp) c.347C>A (p.Ala116Asp) c.*422C>A (n.*422C>A) c.503C>A (p.Ala168Asp) | |
| 17 | g.4955106C>G | CA397289807 | ENO3 | c.476C>G (p.Ala159Gly) c.347C>G (p.Ala116Gly) c.*422C>G (n.*422C>G) c.503C>G (p.Ala168Gly) | |
| 17 | g.4955106C>T | CA397289808 | ENO3 | c.476C>T (p.Ala159Val) c.347C>T (p.Ala116Val) c.*422C>T (n.*422C>T) c.503C>T (p.Ala168Val) | |
| 17 | g.4955107T>A | CA497679297 | ENO3 | c.477T>A (p.Ala159=) c.348T>A (p.Ala116=) c.*423T>A (n.*423T>A) c.504T>A (p.Ala168=) | |
| 17 | g.4955107T>C | CA497679298 | ENO3 | c.477T>C (p.Ala159=) c.348T>C (p.Ala116=) c.*423T>C (n.*423T>C) c.504T>C (p.Ala168=) | dbSNP |
| 17 | g.4955107T>G | CA497679299 | ENO3 | c.477T>G (p.Ala159=) c.348T>G (p.Ala116=) c.*423T>G (n.*423T>G) c.504T>G (p.Ala168=) | |
| 17 | g.4955107T= | CA2244628111 | ENO3 | c.477T= (p.Ala159=) c.348T= (p.Ala116=) c.*423T= (n.*423T=) c.504T= (p.Ala168=) | |
| 17 | g.4955108G>A | CA397289809 | ENO3 | c.478G>A (p.Gly160Arg) c.349G>A (p.Gly117Arg) c.*424G>A (n.*424G>A) c.505G>A (p.Gly169Arg) | gnomAD v4 |
| 17 | g.4955108G>C | CA397289810 | ENO3 | c.478G>C (p.Gly160Arg) c.349G>C (p.Gly117Arg) c.*424G>C (n.*424G>C) c.505G>C (p.Gly169Arg) | |
| 17 | g.4955108G>T | CA397289811 | ENO3 | c.478G>T (p.Gly160Ter) c.349G>T (p.Gly117Ter) c.*424G>T (n.*424G>T) c.505G>T (p.Gly169Ter) | |
| 17 | g.4955109G>A | CA397289814 | ENO3 | c.479G>A (p.Gly160Glu) c.350G>A (p.Gly117Glu) c.*425G>A (n.*425G>A) c.506G>A (p.Gly169Glu) | gnomAD v4 |
| 17 | g.4955109G>C | CA397289813 | ENO3 | c.479G>C (p.Gly160Ala) c.350G>C (p.Gly117Ala) c.*425G>C (n.*425G>C) c.506G>C (p.Gly169Ala) | |
| 17 | g.4955109G>T | CA397289812 | ENO3 | c.479G>T (p.Gly160Val) c.350G>T (p.Gly117Val) c.*425G>T (n.*425G>T) c.506G>T (p.Gly169Val) | |
| 17 | g.4955110A= | CA2244628114 | ENO3 | c.480A= (p.Gly160=) c.351A= (p.Gly117=) c.*426A= (n.*426A=) c.507A= (p.Gly169=) | |
| 17 | g.4955110A>C | CA8316332 | ENO3 | c.480A>C (p.Gly160=) c.351A>C (p.Gly117=) c.*426A>C (n.*426A>C) c.507A>C (p.Gly169=) | dbSNP ExAC gnomAD v4 |
| 17 | g.4955110A>G | CA497679301 | ENO3 | c.480A>G (p.Gly160=) c.351A>G (p.Gly117=) c.*426A>G (n.*426A>G) c.507A>G (p.Gly169=) | |
| 17 | g.4955110A>T | CA497679302 | ENO3 | c.480A>T (p.Gly160=) c.351A>T (p.Gly117=) c.*426A>T (n.*426A>T) c.507A>T (p.Gly169=) | |
| 17 | g.4955111A>C | CA397289815 | ENO3 | c.481A>C (p.Asn161His) c.352A>C (p.Asn118His) c.*427A>C (n.*427A>C) c.508A>C (p.Asn170His) | |
| 17 | g.4955111A>G | CA397289816 | ENO3 | c.481A>G (p.Asn161Asp) c.352A>G (p.Asn118Asp) c.*427A>G (n.*427A>G) c.508A>G (p.Asn170Asp) | |
| 17 | g.4955111A>T | CA397289817 | ENO3 | c.481A>T (p.Asn161Tyr) c.352A>T (p.Asn118Tyr) c.*427A>T (n.*427A>T) c.508A>T (p.Asn170Tyr) | |
| 17 | g.4955112A>C | CA397289818 | ENO3 | c.482A>C (p.Asn161Thr) c.353A>C (p.Asn118Thr) c.*428A>C (n.*428A>C) c.509A>C (p.Asn170Thr) | |
| 17 | g.4955112A>G | CA397289819 | ENO3 | c.482A>G (p.Asn161Ser) c.353A>G (p.Asn118Ser) c.*428A>G (n.*428A>G) c.509A>G (p.Asn170Ser) | |
| 17 | g.4955112A>T | CA397289820 | ENO3 | c.482A>T (p.Asn161Ile) c.353A>T (p.Asn118Ile) c.*428A>T (n.*428A>T) c.509A>T (p.Asn170Ile) | |
| 17 | g.4955113C>A | CA397289821 | ENO3 | c.483C>A (p.Asn161Lys) c.354C>A (p.Asn118Lys) c.*429C>A (n.*429C>A) c.510C>A (p.Asn170Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955113C= | CA2244628118 | ENO3 | c.483C= (p.Asn161=) c.354C= (p.Asn118=) c.*429C= (n.*429C=) c.510C= (p.Asn170=) | |
| 17 | g.4955113C>G | CA397289822 | ENO3 | c.483C>G (p.Asn161Lys) c.354C>G (p.Asn118Lys) c.*429C>G (n.*429C>G) c.510C>G (p.Asn170Lys) | gnomAD v4 |
| 17 | g.4955113C>T | CA497679308 | ENO3 | c.483C>T (p.Asn161=) c.354C>T (p.Asn118=) c.*429C>T (n.*429C>T) c.510C>T (p.Asn170=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955114A= | CA2244628122 | ENO3 | c.484A= (p.Lys162=) c.355A= (p.Lys119=) c.*430A= (n.*430A=) c.511A= (p.Lys171=) | |
| 17 | g.4955114A>C | CA397289823 | ENO3 | c.484A>C (p.Lys162Gln) c.355A>C (p.Lys119Gln) c.*430A>C (n.*430A>C) c.511A>C (p.Lys171Gln) | dbSNP gnomAD v4 |
| 17 | g.4955114A>G | CA397289824 | ENO3 | c.484A>G (p.Lys162Glu) c.355A>G (p.Lys119Glu) c.*430A>G (n.*430A>G) c.511A>G (p.Lys171Glu) | |
| 17 | g.4955114A>T | CA397289825 | ENO3 | c.484A>T (p.Lys162Ter) c.355A>T (p.Lys119Ter) c.*430A>T (n.*430A>T) c.511A>T (p.Lys171Ter) | |
| 17 | g.4955115A>C | CA397289826 | ENO3 | c.485A>C (p.Lys162Thr) c.356A>C (p.Lys119Thr) c.*431A>C (n.*431A>C) c.512A>C (p.Lys171Thr) | |
| 17 | g.4955115A>G | CA397289827 | ENO3 | c.485A>G (p.Lys162Arg) c.356A>G (p.Lys119Arg) c.*431A>G (n.*431A>G) c.512A>G (p.Lys171Arg) | |
| 17 | g.4955115A>T | CA397289828 | ENO3 | c.485A>T (p.Lys162Met) c.356A>T (p.Lys119Met) c.*431A>T (n.*431A>T) c.512A>T (p.Lys171Met) | |
| 17 | g.4955116G>A | CA497679309 | ENO3 | c.486G>A (p.Lys162=) c.357G>A (p.Lys119=) c.*432G>A (n.*432G>A) c.513G>A (p.Lys171=) | |
| 17 | g.4955116G>C | CA397289830 | ENO3 | c.486G>C (p.Lys162Asn) c.357G>C (p.Lys119Asn) c.*432G>C (n.*432G>C) c.513G>C (p.Lys171Asn) | gnomAD v4 |
| 17 | g.4955116G>T | CA397289829 | ENO3 | c.486G>T (p.Lys162Asn) c.357G>T (p.Lys119Asn) c.*432G>T (n.*432G>T) c.513G>T (p.Lys171Asn) | |
| 17 | g.4955117C>A | CA397289831 | ENO3 | c.487C>A (p.Leu163Met) c.358C>A (p.Leu120Met) c.*433C>A (n.*433C>A) c.514C>A (p.Leu172Met) | |
| 17 | g.4955117C= | CA2244628125 | ENO3 | c.487C= (p.Leu163=) c.358C= (p.Leu120=) c.*433C= (n.*433C=) c.514C= (p.Leu172=) | |
| 17 | g.4955117C>G | CA397289832 | ENO3 | c.487C>G (p.Leu163Val) c.358C>G (p.Leu120Val) c.*433C>G (n.*433C>G) c.514C>G (p.Leu172Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955117C>T | CA497679310 | ENO3 | c.487C>T (p.Leu163=) c.358C>T (p.Leu120=) c.*433C>T (n.*433C>T) c.514C>T (p.Leu172=) | |
| 17 | g.4955118T>A | CA397289833 | ENO3 | c.488T>A (p.Leu163Gln) c.359T>A (p.Leu120Gln) c.*434T>A (n.*434T>A) c.515T>A (p.Leu172Gln) | |
| 17 | g.4955118T>C | CA397289834 | ENO3 | c.488T>C (p.Leu163Pro) c.359T>C (p.Leu120Pro) c.*434T>C (n.*434T>C) c.515T>C (p.Leu172Pro) | |
| 17 | g.4955118T>G | CA397289835 | ENO3 | c.488T>G (p.Leu163Arg) c.359T>G (p.Leu120Arg) c.*434T>G (n.*434T>G) c.515T>G (p.Leu172Arg) | |
| 17 | g.4955119G>A | CA497679311 | ENO3 | c.489G>A (p.Leu163=) c.360G>A (p.Leu120=) c.*435G>A (n.*435G>A) c.516G>A (p.Leu172=) | |
| 17 | g.4955119G>C | CA497679313 | ENO3 | c.489G>C (p.Leu163=) c.360G>C (p.Leu120=) c.*435G>C (n.*435G>C) c.516G>C (p.Leu172=) | |
| 17 | g.4955119G= | CA2244628128 | ENO3 | c.489G= (p.Leu163=) c.360G= (p.Leu120=) c.*435G= (n.*435G=) c.516G= (p.Leu172=) | |
| 17 | g.4955119G>T | CA497679312 | ENO3 | c.489G>T (p.Leu163=) c.360G>T (p.Leu120=) c.*435G>T (n.*435G>T) c.516G>T (p.Leu172=) | dbSNP |
| 17 | g.4955120G>A | CA397289838 | ENO3 | c.490G>A (p.Ala164Thr) c.361G>A (p.Ala121Thr) c.*436G>A (n.*436G>A) c.517G>A (p.Ala173Thr) | |
| 17 | g.4955120G>C | CA397289837 | ENO3 | c.490G>C (p.Ala164Pro) c.361G>C (p.Ala121Pro) c.*436G>C (n.*436G>C) c.517G>C (p.Ala173Pro) | |
| 17 | g.4955120G>T | CA397289836 | ENO3 | c.490G>T (p.Ala164Ser) c.361G>T (p.Ala121Ser) c.*436G>T (n.*436G>T) c.517G>T (p.Ala173Ser) | |
| 17 | g.4955121C>A | CA397289839 | ENO3 | c.491C>A (p.Ala164Asp) c.362C>A (p.Ala121Asp) c.*437C>A (n.*437C>A) c.518C>A (p.Ala173Asp) | |
| 17 | g.4955121C= | CA2244628131 | ENO3 | c.491C= (p.Ala164=) c.362C= (p.Ala121=) c.*437C= (n.*437C=) c.518C= (p.Ala173=) | |
| 17 | g.4955121C>G | CA397289840 | ENO3 | c.491C>G (p.Ala164Gly) c.362C>G (p.Ala121Gly) c.*437C>G (n.*437C>G) c.518C>G (p.Ala173Gly) | |
| 17 | g.4955121C>T | CA397289841 | ENO3 | c.491C>T (p.Ala164Val) c.362C>T (p.Ala121Val) c.*437C>T (n.*437C>T) c.518C>T (p.Ala173Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955122C>A | CA497679314 | ENO3 | c.492C>A (p.Ala164=) c.363C>A (p.Ala121=) c.*438C>A (n.*438C>A) c.519C>A (p.Ala173=) | |
| 17 | g.4955122C= | CA2244628133 | ENO3 | c.492C= (p.Ala164=) c.363C= (p.Ala121=) c.*438C= (n.*438C=) c.519C= (p.Ala173=) | |
| 17 | g.4955122C>G | CA497679315 | ENO3 | c.492C>G (p.Ala164=) c.363C>G (p.Ala121=) c.*438C>G (n.*438C>G) c.519C>G (p.Ala173=) | |
| 17 | g.4955122C>T | CA497679316 | ENO3 | c.492C>T (p.Ala164=) c.363C>T (p.Ala121=) c.*438C>T (n.*438C>T) c.519C>T (p.Ala173=) | dbSNP |
| 17 | g.4955123A= | CA2244628138 | ENO3 | c.493A= (p.Met165=) c.364A= (p.Met122=) c.*439A= (n.*439A=) c.520A= (p.Met174=) | |
| 17 | g.4955123A>C | CA397289842 | ENO3 | c.493A>C (p.Met165Leu) c.364A>C (p.Met122Leu) c.*439A>C (n.*439A>C) c.520A>C (p.Met174Leu) | |
| 17 | g.4955123A>G | CA8316333 | ENO3 | c.493A>G (p.Met165Val) c.364A>G (p.Met122Val) c.*439A>G (n.*439A>G) c.520A>G (p.Met174Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955123A>T | CA397289843 | ENO3 | c.493A>T (p.Met165Leu) c.364A>T (p.Met122Leu) c.*439A>T (n.*439A>T) c.520A>T (p.Met174Leu) | |
| 17 | g.4955124T>A | CA397289844 | ENO3 | c.494T>A (p.Met165Lys) c.365T>A (p.Met122Lys) c.*440T>A (n.*440T>A) c.521T>A (p.Met174Lys) | |
| 17 | g.4955124T>C | CA397289846 | ENO3 | c.494T>C (p.Met165Thr) c.365T>C (p.Met122Thr) c.*440T>C (n.*440T>C) c.521T>C (p.Met174Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955124T>G | CA397289845 | ENO3 | c.494T>G (p.Met165Arg) c.365T>G (p.Met122Arg) c.*440T>G (n.*440T>G) c.521T>G (p.Met174Arg) | |
| 17 | g.4955124T= | CA2244628143 | ENO3 | c.494T= (p.Met165=) c.365T= (p.Met122=) c.*440T= (n.*440T=) c.521T= (p.Met174=) | |
| 17 | g.4955125G>A | CA397289847 | ENO3 | c.495G>A (p.Met165Ile) c.366G>A (p.Met122Ile) c.*441G>A (n.*441G>A) c.522G>A (p.Met174Ile) | |
| 17 | g.4955125G>C | CA397289848 | ENO3 | c.495G>C (p.Met165Ile) c.366G>C (p.Met122Ile) c.*441G>C (n.*441G>C) c.522G>C (p.Met174Ile) | |
| 17 | g.4955125G= | CA2244628148 | ENO3 | c.495G= (p.Met165=) c.366G= (p.Met122=) c.*441G= (n.*441G=) c.522G= (p.Met174=) | |
| 17 | g.4955125G>T | CA8316334 | ENO3 | c.495G>T (p.Met165Ile) c.366G>T (p.Met122Ile) c.*441G>T (n.*441G>T) c.522G>T (p.Met174Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955126C>A | CA397289849 | ENO3 | c.496C>A (p.Gln166Lys) c.367C>A (p.Gln123Lys) c.*442C>A (n.*442C>A) c.523C>A (p.Gln175Lys) | |
| 17 | g.4955126C= | CA2244628155 | ENO3 | c.496C= (p.Gln166=) c.367C= (p.Gln123=) c.*442C= (n.*442C=) c.523C= (p.Gln175=) | |
| 17 | g.4955126C>G | CA397289850 | ENO3 | c.496C>G (p.Gln166Glu) c.367C>G (p.Gln123Glu) c.*442C>G (n.*442C>G) c.523C>G (p.Gln175Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955126C>T | CA397289851 | ENO3 | c.496C>T (p.Gln166Ter) c.367C>T (p.Gln123Ter) c.*442C>T (n.*442C>T) c.523C>T (p.Gln175Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955126_4955129delinsCAGG | CA2244628154 | ENO3 | c.496_499delinsCAGG (p.Gln166=) c.367_370delinsCAGG (p.Gln123=) c.*442_*445delinsCAGG (n.*442_*445delinsCAGG) c.523_526delinsCAGG (p.Gln175=) | |
| 17 | g.4955127A= | CA2244628160 | ENO3 | c.497A= (p.Gln166=) c.368A= (p.Gln123=) c.*443A= (n.*443A=) c.524A= (p.Gln175=) | |
| 17 | g.4955127A>C | CA397289854 | ENO3 | c.497A>C (p.Gln166Pro) c.368A>C (p.Gln123Pro) c.*443A>C (n.*443A>C) c.524A>C (p.Gln175Pro) | |
| 17 | g.4955127A>G | CA397289852 | ENO3 | c.497A>G (p.Gln166Arg) c.368A>G (p.Gln123Arg) c.*443A>G (n.*443A>G) c.524A>G (p.Gln175Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955127A>T | CA397289853 | ENO3 | c.497A>T (p.Gln166Leu) c.368A>T (p.Gln123Leu) c.*443A>T (n.*443A>T) c.524A>T (p.Gln175Leu) | |
| 17 | g.4955129_4955131del | CA772695228 | ENO3 | c.499_501del (p.Glu167del) c.370_372del (p.Glu124del) c.*445_*447del (n.*445_*447del) c.526_528del (p.Glu176del) | dbSNP |
| 17 | g.4955128G>A | CA497679317 | ENO3 | c.498G>A (p.Gln166=) c.369G>A (p.Gln123=) c.*444G>A (n.*444G>A) c.525G>A (p.Gln175=) | |
| 17 | g.4955128G>C | CA397289855 | ENO3 | c.498G>C (p.Gln166His) c.369G>C (p.Gln123His) c.*444G>C (n.*444G>C) c.525G>C (p.Gln175His) | |
| 17 | g.4955128G>T | CA397289856 | ENO3 | c.498G>T (p.Gln166His) c.369G>T (p.Gln123His) c.*444G>T (n.*444G>T) c.525G>T (p.Gln175His) | |
| 17 | g.4955129G>A | CA397289857 | ENO3 | c.499G>A (p.Glu167Lys) c.370G>A (p.Glu124Lys) c.*445G>A (n.*445G>A) c.526G>A (p.Glu176Lys) | COSMIC |
| 17 | g.4955129G>C | CA397289858 | ENO3 | c.499G>C (p.Glu167Gln) c.370G>C (p.Glu124Gln) c.*445G>C (n.*445G>C) c.526G>C (p.Glu176Gln) | |
| 17 | g.4955129G>T | CA397289859 | ENO3 | c.499G>T (p.Glu167Ter) c.370G>T (p.Glu124Ter) c.*445G>T (n.*445G>T) c.526G>T (p.Glu176Ter) | |
| 17 | g.4955130A= | CA2244628164 | ENO3 | c.500A= (p.Glu167=) c.371A= (p.Glu124=) c.*446A= (n.*446A=) c.527A= (p.Glu176=) | |
| 17 | g.4955130A>C | CA397289860 | ENO3 | c.500A>C (p.Glu167Ala) c.371A>C (p.Glu124Ala) c.*446A>C (n.*446A>C) c.527A>C (p.Glu176Ala) | |
| 17 | g.4955130A>G | CA397289862 | ENO3 | c.500A>G (p.Glu167Gly) c.371A>G (p.Glu124Gly) c.*446A>G (n.*446A>G) c.527A>G (p.Glu176Gly) | gnomAD v4 |
| 17 | g.4955130A>T | CA397289861 | ENO3 | c.500A>T (p.Glu167Val) c.371A>T (p.Glu124Val) c.*446A>T (n.*446A>T) c.527A>T (p.Glu176Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955131G>A | CA8316335 | ENO3 | c.501G>A (p.Glu167=) c.372G>A (p.Glu124=) c.*447G>A (n.*447G>A) c.528G>A (p.Glu176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955131G>C | CA397289863 | ENO3 | c.501G>C (p.Glu167Asp) c.372G>C (p.Glu124Asp) c.*447G>C (n.*447G>C) c.528G>C (p.Glu176Asp) | |
| 17 | g.4955131G= | CA2244628168 | ENO3 | c.501G= (p.Glu167=) c.372G= (p.Glu124=) c.*447G= (n.*447G=) c.528G= (p.Glu176=) | |
| 17 | g.4955131G>T | CA397289864 | ENO3 | c.501G>T (p.Glu167Asp) c.372G>T (p.Glu124Asp) c.*447G>T (n.*447G>T) c.528G>T (p.Glu176Asp) | dbSNP |
| 17 | g.4955132T>A | CA397289865 | ENO3 | c.502T>A (p.Phe168Ile) c.373T>A (p.Phe125Ile) c.*448T>A (n.*448T>A) c.529T>A (p.Phe177Ile) | |
| 17 | g.4955132T>C | CA397289866 | ENO3 | c.502T>C (p.Phe168Leu) c.373T>C (p.Phe125Leu) c.*448T>C (n.*448T>C) c.529T>C (p.Phe177Leu) | |
| 17 | g.4955132T>G | CA397289867 | ENO3 | c.502T>G (p.Phe168Val) c.373T>G (p.Phe125Val) c.*448T>G (n.*448T>G) c.529T>G (p.Phe177Val) | |
| 17 | g.4955133T>A | CA397289868 | ENO3 | c.503T>A (p.Phe168Tyr) c.374T>A (p.Phe125Tyr) c.*449T>A (n.*449T>A) c.530T>A (p.Phe177Tyr) | |
| 17 | g.4955133T>C | CA397289869 | ENO3 | c.503T>C (p.Phe168Ser) c.374T>C (p.Phe125Ser) c.*449T>C (n.*449T>C) c.530T>C (p.Phe177Ser) | gnomAD v4 |
| 17 | g.4955133T>G | CA397289870 | ENO3 | c.503T>G (p.Phe168Cys) c.374T>G (p.Phe125Cys) c.*449T>G (n.*449T>G) c.530T>G (p.Phe177Cys) | |
| 17 | g.4955134C>A | CA397289871 | ENO3 | c.504C>A (p.Phe168Leu) c.375C>A (p.Phe125Leu) c.*450C>A (n.*450C>A) c.531C>A (p.Phe177Leu) | |
| 17 | g.4955134C= | CA2244628171 | ENO3 | c.504C= (p.Phe168=) c.375C= (p.Phe125=) c.*450C= (n.*450C=) c.531C= (p.Phe177=) | |
| 17 | g.4955134C>G | CA397289872 | ENO3 | c.504C>G (p.Phe168Leu) c.375C>G (p.Phe125Leu) c.*450C>G (n.*450C>G) c.531C>G (p.Phe177Leu) | |
| 17 | g.4955134C>T | CA497679318 | ENO3 | c.504C>T (p.Phe168=) c.375C>T (p.Phe125=) c.*450C>T (n.*450C>T) c.531C>T (p.Phe177=) | dbSNP |
| 17 | g.4955135A= | CA2244628174 | ENO3 | c.505A= (p.Met169=) c.376A= (p.Met126=) c.*451A= (n.*451A=) c.532A= (p.Met178=) | |
| 17 | g.4955135A>C | CA397289874 | ENO3 | c.505A>C (p.Met169Leu) c.376A>C (p.Met126Leu) c.*451A>C (n.*451A>C) c.532A>C (p.Met178Leu) | |
| 17 | g.4955135A>G | CA397289875 | ENO3 | c.505A>G (p.Met169Val) c.376A>G (p.Met126Val) c.*451A>G (n.*451A>G) c.532A>G (p.Met178Val) | dbSNP |
| 17 | g.4955135A>T | CA397289873 | ENO3 | c.505A>T (p.Met169Leu) c.376A>T (p.Met126Leu) c.*451A>T (n.*451A>T) c.532A>T (p.Met178Leu) | |
| 17 | g.4955136T>A | CA397289876 | ENO3 | c.506T>A (p.Met169Lys) c.377T>A (p.Met126Lys) c.*452T>A (n.*452T>A) c.533T>A (p.Met178Lys) | |
| 17 | g.4955136T>C | CA397289878 | ENO3 | c.506T>C (p.Met169Thr) c.377T>C (p.Met126Thr) c.*452T>C (n.*452T>C) c.533T>C (p.Met178Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955136T>G | CA397289877 | ENO3 | c.506T>G (p.Met169Arg) c.377T>G (p.Met126Arg) c.*452T>G (n.*452T>G) c.533T>G (p.Met178Arg) | |
| 17 | g.4955136T= | CA2244628176 | ENO3 | c.506T= (p.Met169=) c.377T= (p.Met126=) c.*452T= (n.*452T=) c.533T= (p.Met178=) | |
| 17 | g.4955137G>A | CA397289879 | ENO3 | c.507G>A (p.Met169Ile) c.378G>A (p.Met126Ile) c.*453G>A (n.*453G>A) c.534G>A (p.Met178Ile) | |
| 17 | g.4955137G>C | CA397289880 | ENO3 | c.507G>C (p.Met169Ile) c.378G>C (p.Met126Ile) c.*453G>C (n.*453G>C) c.534G>C (p.Met178Ile) | |
| 17 | g.4955137G>T | CA397289881 | ENO3 | c.507G>T (p.Met169Ile) c.378G>T (p.Met126Ile) c.*453G>T (n.*453G>T) c.534G>T (p.Met178Ile) | COSMIC |
| 17 | g.4955138A>C | CA397289882 | ENO3 | c.508A>C (p.Ile170Leu) c.379A>C (p.Ile127Leu) c.*454A>C (n.*454A>C) c.535A>C (p.Ile179Leu) | |
| 17 | g.4955138A>G | CA397289883 | ENO3 | c.508A>G (p.Ile170Val) c.379A>G (p.Ile127Val) c.*454A>G (n.*454A>G) c.535A>G (p.Ile179Val) | |
| 17 | g.4955138A>T | CA397289884 | ENO3 | c.508A>T (p.Ile170Phe) c.379A>T (p.Ile127Phe) c.*454A>T (n.*454A>T) c.535A>T (p.Ile179Phe) | |
| 17 | g.4955139T>A | CA397289887 | ENO3 | c.509T>A (p.Ile170Asn) c.380T>A (p.Ile127Asn) c.*455T>A (n.*455T>A) c.536T>A (p.Ile179Asn) | |
| 17 | g.4955139T>C | CA397289886 | ENO3 | c.509T>C (p.Ile170Thr) c.380T>C (p.Ile127Thr) c.*455T>C (n.*455T>C) c.536T>C (p.Ile179Thr) | |
| 17 | g.4955139T>G | CA397289885 | ENO3 | c.509T>G (p.Ile170Ser) c.380T>G (p.Ile127Ser) c.*455T>G (n.*455T>G) c.536T>G (p.Ile179Ser) | gnomAD v4 |
| 17 | g.4955140T>A | CA497679319 | ENO3 | c.510T>A (p.Ile170=) c.381T>A (p.Ile127=) c.*456T>A (n.*456T>A) c.537T>A (p.Ile179=) | |
| 17 | g.4955140T>C | CA497679320 | ENO3 | c.510T>C (p.Ile170=) c.381T>C (p.Ile127=) c.*456T>C (n.*456T>C) c.537T>C (p.Ile179=) | dbSNP COSMIC |
| 17 | g.4955140T>G | CA397289888 | ENO3 | c.510T>G (p.Ile170Met) c.381T>G (p.Ile127Met) c.*456T>G (n.*456T>G) c.537T>G (p.Ile179Met) | |
| 17 | g.4955140T= | CA2244628179 | ENO3 | c.510T= (p.Ile170=) c.381T= (p.Ile127=) c.*456T= (n.*456T=) c.537T= (p.Ile179=) | |
| 17 | g.4955140_4955141insG | CA624856677 | ENO3 | c.510_511insG (p.Leu171AlafsTer?) c.381_382insG (p.Leu128AlafsTer?) c.*456_*457insG (n.*456_*457insG) c.537_538insG (p.Leu180AlafsTer?) | dbSNP gnomAD v2 |
| 17 | g.4955141C>A | CA397289889 | ENO3 | c.511C>A (p.Leu171Met) c.382C>A (p.Leu128Met) c.*457C>A (n.*457C>A) c.538C>A (p.Leu180Met) | |
| 17 | g.4955141C>G | CA397289890 | ENO3 | c.511C>G (p.Leu171Val) c.382C>G (p.Leu128Val) c.*457C>G (n.*457C>G) c.538C>G (p.Leu180Val) | |
| 17 | g.4955141C>T | CA497679321 | ENO3 | c.511C>T (p.Leu171=) c.382C>T (p.Leu128=) c.*457C>T (n.*457C>T) c.538C>T (p.Leu180=) | |
| 17 | g.4955142T>A | CA397289891 | ENO3 | c.512T>A (p.Leu171Gln) c.383T>A (p.Leu128Gln) c.*458T>A (n.*458T>A) c.539T>A (p.Leu180Gln) | |
| 17 | g.4955142T>C | CA397289892 | ENO3 | c.512T>C (p.Leu171Pro) c.383T>C (p.Leu128Pro) c.*458T>C (n.*458T>C) c.539T>C (p.Leu180Pro) | |
| 17 | g.4955142T>G | CA397289893 | ENO3 | c.512T>G (p.Leu171Arg) c.383T>G (p.Leu128Arg) c.*458T>G (n.*458T>G) c.539T>G (p.Leu180Arg) | |
| 17 | g.4955142_4955143delinsTG | CA2244628184 | ENO3 | c.512_513delinsTG (p.Leu171=) c.383_384delinsTG (p.Leu128=) c.*458_*459delinsTG (n.*458_*459delinsTG) c.539_540delinsTG (p.Leu180=) | |
| 17 | g.4955143del | CA624856678 | ENO3 | c.513del (p.Pro172LeufsTer?) c.384del (p.Pro129LeufsTer?) c.*459del (n.*459del) c.540del (p.Pro181LeufsTer?) | dbSNP gnomAD v2 |
| 17 | g.4955143G>A | CA497679323 | ENO3 | c.513G>A (p.Leu171=) c.384G>A (p.Leu128=) c.*459G>A (n.*459G>A) c.540G>A (p.Leu180=) | |
| 17 | g.4955143G>C | CA497679324 | ENO3 | c.513G>C (p.Leu171=) c.384G>C (p.Leu128=) c.*459G>C (n.*459G>C) c.540G>C (p.Leu180=) | |
| 17 | g.4955143G>T | CA497679325 | ENO3 | c.513G>T (p.Leu171=) c.384G>T (p.Leu128=) c.*459G>T (n.*459G>T) c.540G>T (p.Leu180=) | |
| 17 | g.4955144C>A | CA397289894 | ENO3 | c.514C>A (p.Pro172Thr) c.385C>A (p.Pro129Thr) c.*460C>A (n.*460C>A) c.541C>A (p.Pro181Thr) | |
| 17 | g.4955144C>G | CA397289896 | ENO3 | c.514C>G (p.Pro172Ala) c.385C>G (p.Pro129Ala) c.*460C>G (n.*460C>G) c.541C>G (p.Pro181Ala) | |
| 17 | g.4955144C>T | CA397289895 | ENO3 | c.514C>T (p.Pro172Ser) c.385C>T (p.Pro129Ser) c.*460C>T (n.*460C>T) c.541C>T (p.Pro181Ser) | gnomAD v4 |
| 17 | g.4955145C>A | CA397289897 | ENO3 | c.515C>A (p.Pro172His) c.386C>A (p.Pro129His) c.*461C>A (n.*461C>A) c.542C>A (p.Pro181His) | |
| 17 | g.4955145C>G | CA397289898 | ENO3 | c.515C>G (p.Pro172Arg) c.386C>G (p.Pro129Arg) c.*461C>G (n.*461C>G) c.542C>G (p.Pro181Arg) | |
| 17 | g.4955145C>T | CA397289899 | ENO3 | c.515C>T (p.Pro172Leu) c.386C>T (p.Pro129Leu) c.*461C>T (n.*461C>T) c.542C>T (p.Pro181Leu) | gnomAD v4 |
| 17 | g.4955146T>A | CA497679328 | ENO3 | c.516T>A (p.Pro172=) c.387T>A (p.Pro129=) c.*462T>A (n.*462T>A) c.543T>A (p.Pro181=) | dbSNP COSMIC |
| 17 | g.4955146T>C | CA497679327 | ENO3 | c.516T>C (p.Pro172=) c.387T>C (p.Pro129=) c.*462T>C (n.*462T>C) c.543T>C (p.Pro181=) | dbSNP gnomAD v4 |
| 17 | g.4955146T>G | CA497679326 | ENO3 | c.516T>G (p.Pro172=) c.387T>G (p.Pro129=) c.*462T>G (n.*462T>G) c.543T>G (p.Pro181=) | |
| 17 | g.4955146T= | CA2244628187 | ENO3 | c.516T= (p.Pro172=) c.387T= (p.Pro129=) c.*462T= (n.*462T=) c.543T= (p.Pro181=) | |
| 17 | g.4955147G>A | CA397289900 | ENO3 | c.517G>A (p.Val173Met) c.388G>A (p.Val130Met) c.*463G>A (n.*463G>A) c.544G>A (p.Val182Met) | gnomAD v4 |
| 17 | g.4955147G>C | CA397289901 | ENO3 | c.517G>C (p.Val173Leu) c.388G>C (p.Val130Leu) c.*463G>C (n.*463G>C) c.544G>C (p.Val182Leu) | dbSNP gnomAD v2 |
| 17 | g.4955147G= | CA2244628191 | ENO3 | c.517G= (p.Val173=) c.388G= (p.Val130=) c.*463G= (n.*463G=) c.544G= (p.Val182=) | |
| 17 | g.4955147G>T | CA397289902 | ENO3 | c.517G>T (p.Val173Leu) c.388G>T (p.Val130Leu) c.*463G>T (n.*463G>T) c.544G>T (p.Val182Leu) | |
| 17 | g.4955148T>A | CA397289903 | ENO3 | c.518T>A (p.Val173Glu) c.389T>A (p.Val130Glu) c.*464T>A (n.*464T>A) c.545T>A (p.Val182Glu) | |
| 17 | g.4955148T>C | CA397289904 | ENO3 | c.518T>C (p.Val173Ala) c.389T>C (p.Val130Ala) c.*464T>C (n.*464T>C) c.545T>C (p.Val182Ala) | gnomAD v4 |
| 17 | g.4955148T>G | CA397289905 | ENO3 | c.518T>G (p.Val173Gly) c.389T>G (p.Val130Gly) c.*464T>G (n.*464T>G) c.545T>G (p.Val182Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955148T= | CA2244628196 | ENO3 | c.518T= (p.Val173=) c.389T= (p.Val130=) c.*464T= (n.*464T=) c.545T= (p.Val182=) | |
| 17 | g.4955149G>A | CA497679332 | ENO3 | c.519G>A (p.Val173=) c.390G>A (p.Val130=) c.*465G>A (n.*465G>A) c.546G>A (p.Val182=) | |
| 17 | g.4955149G>C | CA497679333 | ENO3 | c.519G>C (p.Val173=) c.390G>C (p.Val130=) c.*465G>C (n.*465G>C) c.546G>C (p.Val182=) | |
| 17 | g.4955149G>T | CA497679334 | ENO3 | c.519G>T (p.Val173=) c.390G>T (p.Val130=) c.*465G>T (n.*465G>T) c.546G>T (p.Val182=) | |
| 17 | g.4955150G>A | CA397289906 | ENO3 | c.520G>A (p.Gly174Arg) c.391G>A (p.Gly131Arg) c.*466G>A (n.*466G>A) c.547G>A (p.Gly183Arg) | gnomAD v4 |
| 17 | g.4955150G>C | CA397289907 | ENO3 | c.520G>C (p.Gly174Arg) c.391G>C (p.Gly131Arg) c.*466G>C (n.*466G>C) c.547G>C (p.Gly183Arg) | |
| 17 | g.4955150G>T | CA397289908 | ENO3 | c.520G>T (p.Gly174Ter) c.391G>T (p.Gly131Ter) c.*466G>T (n.*466G>T) c.547G>T (p.Gly183Ter) | |
| 17 | g.4955151G>A | CA397289910 | ENO3 | c.521G>A (p.Gly174Glu) c.392G>A (p.Gly131Glu) c.*467G>A (n.*467G>A) c.548G>A (p.Gly183Glu) | gnomAD v4 |
| 17 | g.4955151G>C | CA8316336 | ENO3 | c.521G>C (p.Gly174Ala) c.392G>C (p.Gly131Ala) c.*467G>C (n.*467G>C) c.548G>C (p.Gly183Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955151G= | CA2244628200 | ENO3 | c.521G= (p.Gly174=) c.392G= (p.Gly131=) c.*467G= (n.*467G=) c.548G= (p.Gly183=) | |
| 17 | g.4955151G>T | CA397289909 | ENO3 | c.521G>T (p.Gly174Val) c.392G>T (p.Gly131Val) c.*467G>T (n.*467G>T) c.548G>T (p.Gly183Val) | |
| 17 | g.4955152A= | CA2244628202 | ENO3 | c.522A= (p.Gly174=) c.393A= (p.Gly131=) c.*468A= (n.*468A=) c.549A= (p.Gly183=) | |
| 17 | g.4955152A>C | CA497679336 | ENO3 | c.522A>C (p.Gly174=) c.393A>C (p.Gly131=) c.*468A>C (n.*468A>C) c.549A>C (p.Gly183=) | |
| 17 | g.4955152A>G | CA8316337 | ENO3 | c.522A>G (p.Gly174=) c.393A>G (p.Gly131=) c.*468A>G (n.*468A>G) c.549A>G (p.Gly183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955152A>T | CA497679337 | ENO3 | c.522A>T (p.Gly174=) c.393A>T (p.Gly131=) c.*468A>T (n.*468A>T) c.549A>T (p.Gly183=) | dbSNP gnomAD v2 |
| 17 | g.4955157_4955174dup | CA2635584589 | ENO3 | c.527_544dup (p.Ala181_Met182insSerSerPheLysGluAla) c.398_415dup (p.Ala138_Met139insSerSerPheLysGluAla) c.*473_*490dup (n.*473_*490dup) c.554_571dup (p.Ala190_Met191insSerSerPheLysGluAla) | gnomAD v4 |
| 17 | g.4955153del | CA2576136636 | ENO3 | c.523del (p.Ala175ProfsTer?) c.394del (p.Ala132ProfsTer?) c.*469del (n.*469del) c.550del (p.Ala184ProfsTer?) | |
| 17 | g.4955153G>A | CA287175816 | ENO3 | c.523G>A (p.Ala175Thr) c.394G>A (p.Ala132Thr) c.*469G>A (n.*469G>A) c.550G>A (p.Ala184Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955153G>C | CA397289911 | ENO3 | c.523G>C (p.Ala175Pro) c.394G>C (p.Ala132Pro) c.*469G>C (n.*469G>C) c.550G>C (p.Ala184Pro) | |
| 17 | g.4955153G= | CA2244628206 | ENO3 | c.523G= (p.Ala175=) c.394G= (p.Ala132=) c.*469G= (n.*469G=) c.550G= (p.Ala184=) | |
| 17 | g.4955153G>T | CA397289912 | ENO3 | c.523G>T (p.Ala175Ser) c.394G>T (p.Ala132Ser) c.*469G>T (n.*469G>T) c.550G>T (p.Ala184Ser) | |
| 17 | g.4955154C>A | CA397289913 | ENO3 | c.524C>A (p.Ala175Asp) c.395C>A (p.Ala132Asp) c.*470C>A (n.*470C>A) c.551C>A (p.Ala184Asp) | |
| 17 | g.4955154C= | CA2244628210 | ENO3 | c.524C= (p.Ala175=) c.395C= (p.Ala132=) c.*470C= (n.*470C=) c.551C= (p.Ala184=) | |
| 17 | g.4955154C>G | CA397289914 | ENO3 | c.524C>G (p.Ala175Gly) c.395C>G (p.Ala132Gly) c.*470C>G (n.*470C>G) c.551C>G (p.Ala184Gly) | |
| 17 | g.4955154C>T | CA8316338 | ENO3 | c.524C>T (p.Ala175Val) c.395C>T (p.Ala132Val) c.*470C>T (n.*470C>T) c.551C>T (p.Ala184Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955155C>A | CA497679339 | ENO3 | c.525C>A (p.Ala175=) c.396C>A (p.Ala132=) c.*471C>A (n.*471C>A) c.552C>A (p.Ala184=) | |
| 17 | g.4955155C= | CA2244628212 | ENO3 | c.525C= (p.Ala175=) c.396C= (p.Ala132=) c.*471C= (n.*471C=) c.552C= (p.Ala184=) | |
| 17 | g.4955155C>G | CA497679340 | ENO3 | c.525C>G (p.Ala175=) c.396C>G (p.Ala132=) c.*471C>G (n.*471C>G) c.552C>G (p.Ala184=) | |
| 17 | g.4955155C>T | CA497679341 | ENO3 | c.525C>T (p.Ala175=) c.396C>T (p.Ala132=) c.*471C>T (n.*471C>T) c.552C>T (p.Ala184=) | |
| 17 | g.4955155_4955156insCCG | CA624856683 | ENO3 | c.525_526insCCG (p.Ala175_Ser176insPro) c.396_397insCCG (p.Ala132_Ser133insPro) c.*471_*472insCCG (n.*471_*472insCCG) c.552_553insCCG (p.Ala184_Ser185insPro) | dbSNP gnomAD v2 |
| 17 | g.4955156A>C | CA397289917 | ENO3 | c.526A>C (p.Ser176Arg) c.397A>C (p.Ser133Arg) c.*472A>C (n.*472A>C) c.553A>C (p.Ser185Arg) | |
| 17 | g.4955156A>G | CA397289915 | ENO3 | c.526A>G (p.Ser176Gly) c.397A>G (p.Ser133Gly) c.*472A>G (n.*472A>G) c.553A>G (p.Ser185Gly) | |
| 17 | g.4955156A>T | CA397289916 | ENO3 | c.526A>T (p.Ser176Cys) c.397A>T (p.Ser133Cys) c.*472A>T (n.*472A>T) c.553A>T (p.Ser185Cys) | |
| 17 | g.4955156_4955159delinsAGCT | CA2244628215 | ENO3 | c.526_529delinsAGCT (p.Ser176=) c.397_400delinsAGCT (p.Ser133=) c.*472_*475delinsAGCT (n.*472_*475delinsAGCT) c.553_556delinsAGCT (p.Ser185=) | |
| 17 | g.4955157G>A | CA397289918 | ENO3 | c.527G>A (p.Ser176Asn) c.398G>A (p.Ser133Asn) c.*473G>A (n.*473G>A) c.554G>A (p.Ser185Asn) | |
| 17 | g.4955157G>C | CA287175818 | ENO3 | c.527G>C (p.Ser176Thr) c.398G>C (p.Ser133Thr) c.*473G>C (n.*473G>C) c.554G>C (p.Ser185Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955157G= | CA2244628219 | ENO3 | c.527G= (p.Ser176=) c.398G= (p.Ser133=) c.*473G= (n.*473G=) c.554G= (p.Ser185=) | |
| 17 | g.4955157G>T | CA397289919 | ENO3 | c.527G>T (p.Ser176Ile) c.398G>T (p.Ser133Ile) c.*473G>T (n.*473G>T) c.554G>T (p.Ser185Ile) | |
| 17 | g.4955157_4955159del | CA624856684 | ENO3 | c.527_529del (p.Ser176_Ser177delinsThr) c.398_400del (p.Ser133_Ser134delinsThr) c.*473_*475del (n.*473_*475del) c.554_556del (p.Ser185_Ser186delinsThr) | dbSNP gnomAD v2 |
| 17 | g.4955158C>A | CA397289920 | ENO3 | c.528C>A (p.Ser176Arg) c.399C>A (p.Ser133Arg) c.*474C>A (n.*474C>A) c.555C>A (p.Ser185Arg) | |
| 17 | g.4955158C= | CA2244628222 | ENO3 | c.528C= (p.Ser176=) c.399C= (p.Ser133=) c.*474C= (n.*474C=) c.555C= (p.Ser185=) | |
| 17 | g.4955158C>G | CA8316339 | ENO3 | c.528C>G (p.Ser176Arg) c.399C>G (p.Ser133Arg) c.*474C>G (n.*474C>G) c.555C>G (p.Ser185Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955158C>T | CA497679346 | ENO3 | c.528C>T (p.Ser176=) c.399C>T (p.Ser133=) c.*474C>T (n.*474C>T) c.555C>T (p.Ser185=) | |
| 17 | g.4955159T>A | CA397289922 | ENO3 | c.529T>A (p.Ser177Thr) c.400T>A (p.Ser134Thr) c.*475T>A (n.*475T>A) c.556T>A (p.Ser186Thr) | |
| 17 | g.4955159T>C | CA397289926 | ENO3 | c.529T>C (p.Ser177Pro) c.400T>C (p.Ser134Pro) c.*475T>C (n.*475T>C) c.556T>C (p.Ser186Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955159T>G | CA397289924 | ENO3 | c.529T>G (p.Ser177Ala) c.400T>G (p.Ser134Ala) c.*475T>G (n.*475T>G) c.556T>G (p.Ser186Ala) | |
| 17 | g.4955159T= | CA2244628225 | ENO3 | c.529T= (p.Ser177=) c.400T= (p.Ser134=) c.*475T= (n.*475T=) c.556T= (p.Ser186=) | |
| 17 | g.4955160C>A | CA397289929 | ENO3 | c.530C>A (p.Ser177Tyr) c.401C>A (p.Ser134Tyr) c.*476C>A (n.*476C>A) c.557C>A (p.Ser186Tyr) | |
| 17 | g.4955160C>G | CA397289931 | ENO3 | c.530C>G (p.Ser177Cys) c.401C>G (p.Ser134Cys) c.*476C>G (n.*476C>G) c.557C>G (p.Ser186Cys) | |
| 17 | g.4955160C>T | CA397289933 | ENO3 | c.530C>T (p.Ser177Phe) c.401C>T (p.Ser134Phe) c.*476C>T (n.*476C>T) c.557C>T (p.Ser186Phe) | gnomAD v4 |
| 17 | g.4955161C>A | CA497679349 | ENO3 | c.531C>A (p.Ser177=) c.402C>A (p.Ser134=) c.*477C>A (n.*477C>A) c.558C>A (p.Ser186=) | |
| 17 | g.4955161C>G | CA497679350 | ENO3 | c.531C>G (p.Ser177=) c.402C>G (p.Ser134=) c.*477C>G (n.*477C>G) c.558C>G (p.Ser186=) | |
| 17 | g.4955161C>T | CA497679352 | ENO3 | c.531C>T (p.Ser177=) c.402C>T (p.Ser134=) c.*477C>T (n.*477C>T) c.558C>T (p.Ser186=) | ClinVar gnomAD v4 |
| 17 | g.4955162T>A | CA397289937 | ENO3 | c.532T>A (p.Phe178Ile) c.403T>A (p.Phe135Ile) c.*478T>A (n.*478T>A) c.559T>A (p.Phe187Ile) | |
| 17 | g.4955162T>C | CA397289939 | ENO3 | c.532T>C (p.Phe178Leu) c.403T>C (p.Phe135Leu) c.*478T>C (n.*478T>C) c.559T>C (p.Phe187Leu) | |
| 17 | g.4955162T>G | CA397289941 | ENO3 | c.532T>G (p.Phe178Val) c.403T>G (p.Phe135Val) c.*478T>G (n.*478T>G) c.559T>G (p.Phe187Val) | |
| 17 | g.4955163T>A | CA397289944 | ENO3 | c.533T>A (p.Phe178Tyr) c.404T>A (p.Phe135Tyr) c.*479T>A (n.*479T>A) c.560T>A (p.Phe187Tyr) | |
| 17 | g.4955163T>C | CA397289947 | ENO3 | c.533T>C (p.Phe178Ser) c.404T>C (p.Phe135Ser) c.*479T>C (n.*479T>C) c.560T>C (p.Phe187Ser) | |
| 17 | g.4955163T>G | CA397289949 | ENO3 | c.533T>G (p.Phe178Cys) c.404T>G (p.Phe135Cys) c.*479T>G (n.*479T>G) c.560T>G (p.Phe187Cys) | |
| 17 | g.4955164C>A | CA397289951 | ENO3 | c.534C>A (p.Phe178Leu) c.405C>A (p.Phe135Leu) c.*480C>A (n.*480C>A) c.561C>A (p.Phe187Leu) | |
| 17 | g.4955164C>G | CA397289954 | ENO3 | c.534C>G (p.Phe178Leu) c.405C>G (p.Phe135Leu) c.*480C>G (n.*480C>G) c.561C>G (p.Phe187Leu) | |
| 17 | g.4955164C>T | CA497679353 | ENO3 | c.534C>T (p.Phe178=) c.405C>T (p.Phe135=) c.*480C>T (n.*480C>T) c.561C>T (p.Phe187=) | |
| 17 | g.4955165A= | CA2244628227 | ENO3 | c.535A= (p.Lys179=) c.406A= (p.Lys136=) c.*481A= (n.*481A=) c.562A= (p.Lys188=) | |
| 17 | g.4955165A>C | CA397289956 | ENO3 | c.535A>C (p.Lys179Gln) c.406A>C (p.Lys136Gln) c.*481A>C (n.*481A>C) c.562A>C (p.Lys188Gln) | dbSNP gnomAD v2 |
| 17 | g.4955165A>G | CA397289960 | ENO3 | c.535A>G (p.Lys179Glu) c.406A>G (p.Lys136Glu) c.*481A>G (n.*481A>G) c.562A>G (p.Lys188Glu) | |
| 17 | g.4955165A>T | CA397289958 | ENO3 | c.535A>T (p.Lys179Ter) c.406A>T (p.Lys136Ter) c.*481A>T (n.*481A>T) c.562A>T (p.Lys188Ter) | |
| 17 | g.4955166A= | CA2244628229 | ENO3 | c.536A= (p.Lys179=) c.407A= (p.Lys136=) c.*482A= (n.*482A=) c.563A= (p.Lys188=) | |
| 17 | g.4955166A>C | CA397289964 | ENO3 | c.536A>C (p.Lys179Thr) c.407A>C (p.Lys136Thr) c.*482A>C (n.*482A>C) c.563A>C (p.Lys188Thr) | |
| 17 | g.4955166A>G | CA397289968 | ENO3 | c.536A>G (p.Lys179Arg) c.407A>G (p.Lys136Arg) c.*482A>G (n.*482A>G) c.563A>G (p.Lys188Arg) | dbSNP gnomAD v2 COSMIC |
| 17 | g.4955166A>T | CA397289966 | ENO3 | c.536A>T (p.Lys179Met) c.407A>T (p.Lys136Met) c.*482A>T (n.*482A>T) c.563A>T (p.Lys188Met) | |
| 17 | g.4955167G>A | CA497679357 | ENO3 | c.537G>A (p.Lys179=) c.408G>A (p.Lys136=) c.*483G>A (n.*483G>A) c.564G>A (p.Lys188=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955167G>C | CA397289971 | ENO3 | c.537G>C (p.Lys179Asn) c.408G>C (p.Lys136Asn) c.*483G>C (n.*483G>C) c.564G>C (p.Lys188Asn) | |
| 17 | g.4955167G= | CA2244628232 | ENO3 | c.537G= (p.Lys179=) c.408G= (p.Lys136=) c.*483G= (n.*483G=) c.564G= (p.Lys188=) | |
| 17 | g.4955167G>T | CA397289973 | ENO3 | c.537G>T (p.Lys179Asn) c.408G>T (p.Lys136Asn) c.*483G>T (n.*483G>T) c.564G>T (p.Lys188Asn) | dbSNP gnomAD v2 |
| 17 | g.4955168G>A | CA8316340 | ENO3 | c.538G>A (p.Glu180Lys) c.409G>A (p.Glu137Lys) c.*484G>A (n.*484G>A) c.565G>A (p.Glu189Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955168G>C | CA397289978 | ENO3 | c.538G>C (p.Glu180Gln) c.409G>C (p.Glu137Gln) c.*484G>C (n.*484G>C) c.565G>C (p.Glu189Gln) | |
| 17 | g.4955168G= | CA2244628236 | ENO3 | c.538G= (p.Glu180=) c.409G= (p.Glu137=) c.*484G= (n.*484G=) c.565G= (p.Glu189=) | |
| 17 | g.4955168G>T | CA397289980 | ENO3 | c.538G>T (p.Glu180Ter) c.409G>T (p.Glu137Ter) c.*484G>T (n.*484G>T) c.565G>T (p.Glu189Ter) | |
| 17 | g.4955169A= | CA2244628238 | ENO3 | c.539A= (p.Glu180=) c.410A= (p.Glu137=) c.*485A= (n.*485A=) c.566A= (p.Glu189=) | |
| 17 | g.4955169A>C | CA397289983 | ENO3 | c.539A>C (p.Glu180Ala) c.410A>C (p.Glu137Ala) c.*485A>C (n.*485A>C) c.566A>C (p.Glu189Ala) | |
| 17 | g.4955169A>G | CA397289985 | ENO3 | c.539A>G (p.Glu180Gly) c.410A>G (p.Glu137Gly) c.*485A>G (n.*485A>G) c.566A>G (p.Glu189Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955169A>T | CA397289987 | ENO3 | c.539A>T (p.Glu180Val) c.410A>T (p.Glu137Val) c.*485A>T (n.*485A>T) c.566A>T (p.Glu189Val) | |
| 17 | g.4955170A= | CA2244628240 | ENO3 | c.540A= (p.Glu180=) c.411A= (p.Glu137=) c.*486A= (n.*486A=) c.567A= (p.Glu189=) | |
| 17 | g.4955170A>C | CA397289989 | ENO3 | c.540A>C (p.Glu180Asp) c.411A>C (p.Glu137Asp) c.*486A>C (n.*486A>C) c.567A>C (p.Glu189Asp) | |
| 17 | g.4955170A>G | CA8316341 | ENO3 | c.540A>G (p.Glu180=) c.411A>G (p.Glu137=) c.*486A>G (n.*486A>G) c.567A>G (p.Glu189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955170A>T | CA397289993 | ENO3 | c.540A>T (p.Glu180Asp) c.411A>T (p.Glu137Asp) c.*486A>T (n.*486A>T) c.567A>T (p.Glu189Asp) | COSMIC |
| 17 | g.4955171G>A | CA397290000 | ENO3 | c.541G>A (p.Ala181Thr) c.412G>A (p.Ala138Thr) c.*487G>A (n.*487G>A) c.568G>A (p.Ala190Thr) | |
| 17 | g.4955171G>C | CA397289998 | ENO3 | c.541G>C (p.Ala181Pro) c.412G>C (p.Ala138Pro) c.*487G>C (n.*487G>C) c.568G>C (p.Ala190Pro) | |
| 17 | g.4955171G>T | CA397289996 | ENO3 | c.541G>T (p.Ala181Ser) c.412G>T (p.Ala138Ser) c.*487G>T (n.*487G>T) c.568G>T (p.Ala190Ser) | |
| 17 | g.4955172C>A | CA397290003 | ENO3 | c.542C>A (p.Ala181Asp) c.413C>A (p.Ala138Asp) c.*488C>A (n.*488C>A) c.569C>A (p.Ala190Asp) | gnomAD v4 |
| 17 | g.4955172C= | CA2244628244 | ENO3 | c.542C= (p.Ala181=) c.413C= (p.Ala138=) c.*488C= (n.*488C=) c.569C= (p.Ala190=) | |
| 17 | g.4955172C>G | CA397290006 | ENO3 | c.542C>G (p.Ala181Gly) c.413C>G (p.Ala138Gly) c.*488C>G (n.*488C>G) c.569C>G (p.Ala190Gly) | |
| 17 | g.4955172C>T | CA397290008 | ENO3 | c.542C>T (p.Ala181Val) c.413C>T (p.Ala138Val) c.*488C>T (n.*488C>T) c.569C>T (p.Ala190Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955173C>A | CA497679360 | ENO3 | c.543C>A (p.Ala181=) c.414C>A (p.Ala138=) c.*489C>A (n.*489C>A) c.570C>A (p.Ala190=) | |
| 17 | g.4955173C= | CA2244628248 | ENO3 | c.543C= (p.Ala181=) c.414C= (p.Ala138=) c.*489C= (n.*489C=) c.570C= (p.Ala190=) | |
| 17 | g.4955173C>G | CA497679361 | ENO3 | c.543C>G (p.Ala181=) c.414C>G (p.Ala138=) c.*489C>G (n.*489C>G) c.570C>G (p.Ala190=) | |
| 17 | g.4955173C>T | CA497679362 | ENO3 | c.543C>T (p.Ala181=) c.414C>T (p.Ala138=) c.*489C>T (n.*489C>T) c.570C>T (p.Ala190=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955174A= | CA2244628252 | ENO3 | c.544A= (p.Met182=) c.415A= (p.Met139=) c.*490A= (n.*490A=) c.571A= (p.Met191=) | |
| 17 | g.4955174A>C | CA397290011 | ENO3 | c.544A>C (p.Met182Leu) c.415A>C (p.Met139Leu) c.*490A>C (n.*490A>C) c.571A>C (p.Met191Leu) | dbSNP gnomAD v2 |
| 17 | g.4955174A>G | CA397290014 | ENO3 | c.544A>G (p.Met182Val) c.415A>G (p.Met139Val) c.*490A>G (n.*490A>G) c.571A>G (p.Met191Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955174A>T | CA397290016 | ENO3 | c.544A>T (p.Met182Leu) c.415A>T (p.Met139Leu) c.*490A>T (n.*490A>T) c.571A>T (p.Met191Leu) | |
| 17 | g.4955175T>A | CA397290017 | ENO3 | c.545T>A (p.Met182Lys) c.416T>A (p.Met139Lys) c.*491T>A (n.*491T>A) c.572T>A (p.Met191Lys) | |
| 17 | g.4955175T>C | CA8316343 | ENO3 | c.545T>C (p.Met182Thr) c.416T>C (p.Met139Thr) c.*491T>C (n.*491T>C) c.572T>C (p.Met191Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955175T>G | CA8316342 | ENO3 | c.545T>G (p.Met182Arg) c.416T>G (p.Met139Arg) c.*491T>G (n.*491T>G) c.572T>G (p.Met191Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955175T= | CA2244628256 | ENO3 | c.545T= (p.Met182=) c.416T= (p.Met139=) c.*491T= (n.*491T=) c.572T= (p.Met191=) | |
| 17 | g.4955176G>A | CA397290023 | ENO3 | c.546G>A (p.Met182Ile) c.417G>A (p.Met139Ile) c.*492G>A (n.*492G>A) c.573G>A (p.Met191Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955176G>C | CA397290025 | ENO3 | c.546G>C (p.Met182Ile) c.417G>C (p.Met139Ile) c.*492G>C (n.*492G>C) c.573G>C (p.Met191Ile) | dbSNP gnomAD v2 |
| 17 | g.4955176G= | CA2244628261 | ENO3 | c.546G= (p.Met182=) c.417G= (p.Met139=) c.*492G= (n.*492G=) c.573G= (p.Met191=) | |
| 17 | g.4955176G>T | CA397290027 | ENO3 | c.546G>T (p.Met182Ile) c.417G>T (p.Met139Ile) c.*492G>T (n.*492G>T) c.573G>T (p.Met191Ile) | |
| 17 | g.4955177C>A | CA397290033 | ENO3 | c.547C>A (p.Arg183Ser) c.418C>A (p.Arg140Ser) c.*493C>A (n.*493C>A) c.574C>A (p.Arg192Ser) | |
| 17 | g.4955177C= | CA2244628264 | ENO3 | c.547C= (p.Arg183=) c.418C= (p.Arg140=) c.*493C= (n.*493C=) c.574C= (p.Arg192=) | |
| 17 | g.4955177C>G | CA397290031 | ENO3 | c.547C>G (p.Arg183Gly) c.418C>G (p.Arg140Gly) c.*493C>G (n.*493C>G) c.574C>G (p.Arg192Gly) | |
| 17 | g.4955177C>T | CA8316344 | ENO3 | c.547C>T (p.Arg183Cys) c.418C>T (p.Arg140Cys) c.*493C>T (n.*493C>T) c.574C>T (p.Arg192Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955178G>A | CA8316345 | ENO3 | c.548G>A (p.Arg183His) c.419G>A (p.Arg140His) c.*494G>A (n.*494G>A) c.575G>A (p.Arg192His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4955178G>C | CA397290037 | ENO3 | c.548G>C (p.Arg183Pro) c.419G>C (p.Arg140Pro) c.*494G>C (n.*494G>C) c.575G>C (p.Arg192Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955178G= | CA2244628268 | ENO3 | c.548G= (p.Arg183=) c.419G= (p.Arg140=) c.*494G= (n.*494G=) c.575G= (p.Arg192=) | |
| 17 | g.4955178G>T | CA397290039 | ENO3 | c.548G>T (p.Arg183Leu) c.419G>T (p.Arg140Leu) c.*494G>T (n.*494G>T) c.575G>T (p.Arg192Leu) | |
| 17 | g.4955179C>A | CA497679366 | ENO3 | c.549C>A (p.Arg183=) c.420C>A (p.Arg140=) c.*495C>A (n.*495C>A) c.576C>A (p.Arg192=) | |
| 17 | g.4955179C>G | CA497679368 | ENO3 | c.549C>G (p.Arg183=) c.420C>G (p.Arg140=) c.*495C>G (n.*495C>G) c.576C>G (p.Arg192=) | |
| 17 | g.4955179C>T | CA497679367 | ENO3 | c.549C>T (p.Arg183=) c.420C>T (p.Arg140=) c.*495C>T (n.*495C>T) c.576C>T (p.Arg192=) | |
| 17 | g.4955179_4955181delinsCAT | CA2244628272 | ENO3 | c.549_551delinsCAT (p.Arg183=) c.420_422delinsCAT (p.Arg140=) c.*495_*497delinsCAT (n.*495_*497delinsCAT) c.576_578delinsCAT (p.Arg192=) | |
| 17 | g.4955180A= | CA2244628276 | ENO3 | c.550A= (p.Ile184=) c.421A= (p.Ile141=) c.*496A= (n.*496A=) c.577A= (p.Ile193=) | |
| 17 | g.4955180A>C | CA397290042 | ENO3 | c.550A>C (p.Ile184Leu) c.421A>C (p.Ile141Leu) c.*496A>C (n.*496A>C) c.577A>C (p.Ile193Leu) | |
| 17 | g.4955180A>G | CA8316346 | ENO3 | c.550A>G (p.Ile184Val) c.421A>G (p.Ile141Val) c.*496A>G (n.*496A>G) c.577A>G (p.Ile193Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955180A>T | CA397290046 | ENO3 | c.550A>T (p.Ile184Phe) c.421A>T (p.Ile141Phe) c.*496A>T (n.*496A>T) c.577A>T (p.Ile193Phe) | |
| 17 | g.4955180_4955181del | CA624856699 | ENO3 | c.550_551del (p.Ile184TrpfsTer25) c.421_422del (p.Ile141TrpfsTer25) c.550_551del (p.Ile184TrpfsTer?) c.*496_*497del (n.*496_*497del) c.577_578del (p.Ile193TrpfsTer25) | dbSNP gnomAD v2 |
| 17 | g.4955181T>A | CA397290050 | ENO3 | c.551T>A (p.Ile184Asn) c.422T>A (p.Ile141Asn) c.*497T>A (n.*497T>A) c.578T>A (p.Ile193Asn) | |
| 17 | g.4955181T>C | CA397290052 | ENO3 | c.551T>C (p.Ile184Thr) c.422T>C (p.Ile141Thr) c.*497T>C (n.*497T>C) c.578T>C (p.Ile193Thr) | |
| 17 | g.4955181T>G | CA397290054 | ENO3 | c.551T>G (p.Ile184Ser) c.422T>G (p.Ile141Ser) c.*497T>G (n.*497T>G) c.578T>G (p.Ile193Ser) | |
| 17 | g.4955182T>A | CA497679373 | ENO3 | c.552T>A (p.Ile184=) c.423T>A (p.Ile141=) c.*498T>A (n.*498T>A) c.579T>A (p.Ile193=) | |
| 17 | g.4955182T>C | CA497679374 | ENO3 | c.552T>C (p.Ile184=) c.423T>C (p.Ile141=) c.*498T>C (n.*498T>C) c.579T>C (p.Ile193=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955182T>G | CA397290057 | ENO3 | c.552T>G (p.Ile184Met) c.423T>G (p.Ile141Met) c.*498T>G (n.*498T>G) c.579T>G (p.Ile193Met) | gnomAD v4 |
| 17 | g.4955182T= | CA2244628281 | ENO3 | c.552T= (p.Ile184=) c.423T= (p.Ile141=) c.*498T= (n.*498T=) c.579T= (p.Ile193=) | |
| 17 | g.4955183G>A | CA397290061 | ENO3 | c.553G>A (p.Gly185Ser) c.424G>A (p.Gly142Ser) c.*499G>A (n.*499G>A) c.580G>A (p.Gly194Ser) | |
| 17 | g.4955183G>C | CA397290062 | ENO3 | c.553G>C (p.Gly185Arg) c.424G>C (p.Gly142Arg) c.*499G>C (n.*499G>C) c.580G>C (p.Gly194Arg) | |
| 17 | g.4955183G>T | CA397290064 | ENO3 | c.553G>T (p.Gly185Cys) c.424G>T (p.Gly142Cys) c.*499G>T (n.*499G>T) c.580G>T (p.Gly194Cys) | |
| 17 | g.4955183_4955184dup | CA624856702 | ENO3 | c.553_554dup (p.Glu187ProfsTer?) c.424_425dup (p.Glu144ProfsTer?) c.*499_*500dup (n.*499_*500dup) c.580_581dup (p.Glu196ProfsTer?) | dbSNP gnomAD v2 |
| 17 | g.4955184G>A | CA397290069 | ENO3 | c.554G>A (p.Gly185Asp) c.425G>A (p.Gly142Asp) c.*500G>A (n.*500G>A) c.581G>A (p.Gly194Asp) | |
| 17 | g.4955184G>C | CA397290066 | ENO3 | c.554G>C (p.Gly185Ala) c.425G>C (p.Gly142Ala) c.*500G>C (n.*500G>C) c.581G>C (p.Gly194Ala) | |
| 17 | g.4955184G= | CA2244628287 | ENO3 | c.554G= (p.Gly185=) c.425G= (p.Gly142=) c.*500G= (n.*500G=) c.581G= (p.Gly194=) | |
| 17 | g.4955184G>T | CA8316347 | ENO3 | c.554G>T (p.Gly185Val) c.425G>T (p.Gly142Val) c.*500G>T (n.*500G>T) c.581G>T (p.Gly194Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955185C>A | CA497679382 | ENO3 | c.555C>A (p.Gly185=) c.426C>A (p.Gly142=) c.*501C>A (n.*501C>A) c.582C>A (p.Gly194=) | |
| 17 | g.4955185C= | CA2244628297 | ENO3 | c.555C= (p.Gly185=) c.426C= (p.Gly142=) c.*501C= (n.*501C=) c.582C= (p.Gly194=) | |
| 17 | g.4955185C>G | CA497679383 | ENO3 | c.555C>G (p.Gly185=) c.426C>G (p.Gly142=) c.*501C>G (n.*501C>G) c.582C>G (p.Gly194=) | dbSNP gnomAD v4 |
| 17 | g.4955185C>T | CA8316348 | ENO3 | c.555C>T (p.Gly185=) c.426C>T (p.Gly142=) c.*501C>T (n.*501C>T) c.582C>T (p.Gly194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955186G>A | CA8316349 | ENO3 | c.556G>A (p.Ala186Thr) c.427G>A (p.Ala143Thr) c.*502G>A (n.*502G>A) c.583G>A (p.Ala195Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955186G>C | CA397290075 | ENO3 | c.556G>C (p.Ala186Pro) c.427G>C (p.Ala143Pro) c.*502G>C (n.*502G>C) c.583G>C (p.Ala195Pro) | |
| 17 | g.4955186G= | CA2244628299 | ENO3 | c.556G= (p.Ala186=) c.427G= (p.Ala143=) c.*502G= (n.*502G=) c.583G= (p.Ala195=) | |
| 17 | g.4955186G>T | CA397290076 | ENO3 | c.556G>T (p.Ala186Ser) c.427G>T (p.Ala143Ser) c.*502G>T (n.*502G>T) c.583G>T (p.Ala195Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955187C>A | CA397290080 | ENO3 | c.557C>A (p.Ala186Asp) c.428C>A (p.Ala143Asp) c.*503C>A (n.*503C>A) c.584C>A (p.Ala195Asp) | |
| 17 | g.4955187C= | CA2244628301 | ENO3 | c.557C= (p.Ala186=) c.428C= (p.Ala143=) c.*503C= (n.*503C=) c.584C= (p.Ala195=) | |
| 17 | g.4955187C>G | CA397290082 | ENO3 | c.557C>G (p.Ala186Gly) c.428C>G (p.Ala143Gly) c.*503C>G (n.*503C>G) c.584C>G (p.Ala195Gly) | |
| 17 | g.4955187C>T | CA397290084 | ENO3 | c.557C>T (p.Ala186Val) c.428C>T (p.Ala143Val) c.*503C>T (n.*503C>T) c.584C>T (p.Ala195Val) | dbSNP gnomAD v2 |
| 17 | g.4955188C>A | CA497679389 | ENO3 | c.558C>A (p.Ala186=) c.429C>A (p.Ala143=) c.*504C>A (n.*504C>A) c.585C>A (p.Ala195=) | |
| 17 | g.4955188C= | CA2244628304 | ENO3 | c.558C= (p.Ala186=) c.429C= (p.Ala143=) c.*504C= (n.*504C=) c.585C= (p.Ala195=) | |
| 17 | g.4955188C>G | CA497679388 | ENO3 | c.558C>G (p.Ala186=) c.429C>G (p.Ala143=) c.*504C>G (n.*504C>G) c.585C>G (p.Ala195=) | dbSNP |
| 17 | g.4955188C>T | CA8316350 | ENO3 | c.558C>T (p.Ala186=) c.429C>T (p.Ala143=) c.*504C>T (n.*504C>T) c.585C>T (p.Ala195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955189G>A | CA8316351 | ENO3 | c.559G>A (p.Glu187Lys) c.430G>A (p.Glu144Lys) c.*505G>A (n.*505G>A) c.586G>A (p.Glu196Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955189G>C | CA397290091 | ENO3 | c.559G>C (p.Glu187Gln) c.430G>C (p.Glu144Gln) c.*505G>C (n.*505G>C) c.586G>C (p.Glu196Gln) | |
| 17 | g.4955189G= | CA2244628307 | ENO3 | c.559G= (p.Glu187=) c.430G= (p.Glu144=) c.*505G= (n.*505G=) c.586G= (p.Glu196=) | |
| 17 | g.4955189G>T | CA397290094 | ENO3 | c.559G>T (p.Glu187Ter) c.430G>T (p.Glu144Ter) c.*505G>T (n.*505G>T) c.586G>T (p.Glu196Ter) | |
| 17 | g.4955190A>C | CA397290097 | ENO3 | c.560A>C (p.Glu187Ala) c.431A>C (p.Glu144Ala) c.*506A>C (n.*506A>C) c.587A>C (p.Glu196Ala) | |
| 17 | g.4955190A>G | CA397290101 | ENO3 | c.560A>G (p.Glu187Gly) c.431A>G (p.Glu144Gly) c.*506A>G (n.*506A>G) c.587A>G (p.Glu196Gly) | |
| 17 | g.4955190A>T | CA397290099 | ENO3 | c.560A>T (p.Glu187Val) c.431A>T (p.Glu144Val) c.*506A>T (n.*506A>T) c.587A>T (p.Glu196Val) | |
| 17 | g.4955191G>A | CA497679393 | ENO3 | c.561G>A (p.Glu187=) c.432G>A (p.Glu144=) c.*507G>A (n.*507G>A) c.588G>A (p.Glu196=) | |
| 17 | g.4955191G>C | CA397290104 | ENO3 | c.561G>C (p.Glu187Asp) c.432G>C (p.Glu144Asp) c.*507G>C (n.*507G>C) c.588G>C (p.Glu196Asp) | |
| 17 | g.4955191G>T | CA397290106 | ENO3 | c.561G>T (p.Glu187Asp) c.432G>T (p.Glu144Asp) c.*507G>T (n.*507G>T) c.588G>T (p.Glu196Asp) | gnomAD v4 |
| 17 | g.4955192G>A | CA397290109 | ENO3 | c.562G>A (p.Val188Ile) c.433G>A (p.Val145Ile) c.*508G>A (n.*508G>A) c.589G>A (p.Val197Ile) | |
| 17 | g.4955192G>C | CA397290114 | ENO3 | c.562G>C (p.Val188Leu) c.433G>C (p.Val145Leu) c.*508G>C (n.*508G>C) c.589G>C (p.Val197Leu) | |
| 17 | g.4955192G= | CA2244628312 | ENO3 | c.562G= (p.Val188=) c.433G= (p.Val145=) c.*508G= (n.*508G=) c.589G= (p.Val197=) | |
| 17 | g.4955192G>T | CA397290111 | ENO3 | c.562G>T (p.Val188Phe) c.433G>T (p.Val145Phe) c.*508G>T (n.*508G>T) c.589G>T (p.Val197Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955193T>A | CA397290116 | ENO3 | c.563T>A (p.Val188Asp) c.434T>A (p.Val145Asp) c.*509T>A (n.*509T>A) c.590T>A (p.Val197Asp) | |
| 17 | g.4955193T>C | CA8316352 | ENO3 | c.563T>C (p.Val188Ala) c.434T>C (p.Val145Ala) c.*509T>C (n.*509T>C) c.590T>C (p.Val197Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955193T>G | CA397290119 | ENO3 | c.563T>G (p.Val188Gly) c.434T>G (p.Val145Gly) c.*509T>G (n.*509T>G) c.590T>G (p.Val197Gly) | |
| 17 | g.4955193T= | CA2244628314 | ENO3 | c.563T= (p.Val188=) c.434T= (p.Val145=) c.*509T= (n.*509T=) c.590T= (p.Val197=) | |
| 17 | g.4955194C>A | CA497679397 | ENO3 | c.564C>A (p.Val188=) c.435C>A (p.Val145=) c.*510C>A (n.*510C>A) c.591C>A (p.Val197=) | |
| 17 | g.4955194C= | CA2244628317 | ENO3 | c.564C= (p.Val188=) c.435C= (p.Val145=) c.*510C= (n.*510C=) c.591C= (p.Val197=) | |
| 17 | g.4955194C>G | CA497679398 | ENO3 | c.564C>G (p.Val188=) c.435C>G (p.Val145=) c.*510C>G (n.*510C>G) c.591C>G (p.Val197=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955194C>T | CA497679399 | ENO3 | c.564C>T (p.Val188=) c.435C>T (p.Val145=) c.*510C>T (n.*510C>T) c.591C>T (p.Val197=) | |
| 17 | g.4955195_4955197del | CA2635584700 | ENO3 | c.565_567del (p.Tyr189del) c.436_438del (p.Tyr146del) c.*511_*513del (n.*511_*513del) c.592_594del (p.Tyr198del) | gnomAD v4 |
| 17 | g.4955195T>A | CA397290122 | ENO3 | c.565T>A (p.Tyr189Asn) c.436T>A (p.Tyr146Asn) c.*511T>A (n.*511T>A) c.592T>A (p.Tyr198Asn) | |
| 17 | g.4955195T>C | CA397290124 | ENO3 | c.565T>C (p.Tyr189His) c.436T>C (p.Tyr146His) c.*511T>C (n.*511T>C) c.592T>C (p.Tyr198His) | gnomAD v4 |
| 17 | g.4955195T>G | CA397290126 | ENO3 | c.565T>G (p.Tyr189Asp) c.436T>G (p.Tyr146Asp) c.*511T>G (n.*511T>G) c.592T>G (p.Tyr198Asp) | |
| 17 | g.4955196A= | CA2244628320 | ENO3 | c.566A= (p.Tyr189=) c.437A= (p.Tyr146=) c.*512A= (n.*512A=) c.593A= (p.Tyr198=) | |
| 17 | g.4955196A>C | CA397290129 | ENO3 | c.566A>C (p.Tyr189Ser) c.437A>C (p.Tyr146Ser) c.*512A>C (n.*512A>C) c.593A>C (p.Tyr198Ser) | |
| 17 | g.4955196A>G | CA8316353 | ENO3 | c.566A>G (p.Tyr189Cys) c.437A>G (p.Tyr146Cys) c.*512A>G (n.*512A>G) c.593A>G (p.Tyr198Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955196A>T | CA397290132 | ENO3 | c.566A>T (p.Tyr189Phe) c.437A>T (p.Tyr146Phe) c.*512A>T (n.*512A>T) c.593A>T (p.Tyr198Phe) | |
| 17 | g.4955197C>A | CA397290136 | ENO3 | c.567C>A (p.Tyr189Ter) c.438C>A (p.Tyr146Ter) c.*513C>A (n.*513C>A) c.594C>A (p.Tyr198Ter) | |
| 17 | g.4955197C= | CA2244628323 | ENO3 | c.567C= (p.Tyr189=) c.438C= (p.Tyr146=) c.*513C= (n.*513C=) c.594C= (p.Tyr198=) | |
| 17 | g.4955197C>G | CA397290138 | ENO3 | c.567C>G (p.Tyr189Ter) c.438C>G (p.Tyr146Ter) c.*513C>G (n.*513C>G) c.594C>G (p.Tyr198Ter) | |
| 17 | g.4955197C>T | CA8316354 | ENO3 | c.567C>T (p.Tyr189=) c.438C>T (p.Tyr146=) c.*513C>T (n.*513C>T) c.594C>T (p.Tyr198=) | dbSNP ExAC gnomAD v4 |
| 17 | g.4955198C>A | CA397290147 | ENO3 | c.568C>A (p.His190Asn) c.439C>A (p.His147Asn) c.*514C>A (n.*514C>A) c.595C>A (p.His199Asn) | |
| 17 | g.4955198C>G | CA397290143 | ENO3 | c.568C>G (p.His190Asp) c.439C>G (p.His147Asp) c.*514C>G (n.*514C>G) c.595C>G (p.His199Asp) | |
| 17 | g.4955198C>T | CA397290145 | ENO3 | c.568C>T (p.His190Tyr) c.439C>T (p.His147Tyr) c.*514C>T (n.*514C>T) c.595C>T (p.His199Tyr) | |
| 17 | g.4955199A>C | CA397290151 | ENO3 | c.569A>C (p.His190Pro) c.440A>C (p.His147Pro) c.*515A>C (n.*515A>C) c.596A>C (p.His199Pro) | |
| 17 | g.4955199A>G | CA397290153 | ENO3 | c.569A>G (p.His190Arg) c.440A>G (p.His147Arg) c.*515A>G (n.*515A>G) c.596A>G (p.His199Arg) | gnomAD v4 |
| 17 | g.4955199A>T | CA397290155 | ENO3 | c.569A>T (p.His190Leu) c.440A>T (p.His147Leu) c.*515A>T (n.*515A>T) c.596A>T (p.His199Leu) | |
| 17 | g.4955200C>A | CA397290158 | ENO3 | c.570C>A (p.His190Gln) c.441C>A (p.His147Gln) c.*516C>A (n.*516C>A) c.597C>A (p.His199Gln) | |
| 17 | g.4955200C= | CA2244628326 | ENO3 | c.570C= (p.His190=) c.441C= (p.His147=) c.*516C= (n.*516C=) c.597C= (p.His199=) | |
| 17 | g.4955200C>G | CA397290160 | ENO3 | c.570C>G (p.His190Gln) c.441C>G (p.His147Gln) c.*516C>G (n.*516C>G) c.597C>G (p.His199Gln) | |
| 17 | g.4955200C>T | CA287175906 | ENO3 | c.570C>T (p.His190=) c.441C>T (p.His147=) c.*516C>T (n.*516C>T) c.597C>T (p.His199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955201C>A | CA397290163 | ENO3 | c.571C>A (p.His191Asn) c.442C>A (p.His148Asn) c.*517C>A (n.*517C>A) c.598C>A (p.His200Asn) | dbSNP gnomAD v2 |
| 17 | g.4955201C= | CA2244628328 | ENO3 | c.571C= (p.His191=) c.442C= (p.His148=) c.*517C= (n.*517C=) c.598C= (p.His200=) | |
| 17 | g.4955201C>G | CA397290165 | ENO3 | c.571C>G (p.His191Asp) c.442C>G (p.His148Asp) c.*517C>G (n.*517C>G) c.598C>G (p.His200Asp) | |
| 17 | g.4955201C>T | CA397290168 | ENO3 | c.571C>T (p.His191Tyr) c.442C>T (p.His148Tyr) c.*517C>T (n.*517C>T) c.598C>T (p.His200Tyr) | |
| 17 | g.4955202A= | CA2244628332 | ENO3 | c.572A= (p.His191=) c.443A= (p.His148=) c.*518A= (n.*518A=) c.599A= (p.His200=) | |
| 17 | g.4955202A>C | CA397290171 | ENO3 | c.572A>C (p.His191Pro) c.443A>C (p.His148Pro) c.*518A>C (n.*518A>C) c.599A>C (p.His200Pro) | dbSNP gnomAD v2 |
| 17 | g.4955202A>G | CA397290173 | ENO3 | c.572A>G (p.His191Arg) c.443A>G (p.His148Arg) c.*518A>G (n.*518A>G) c.599A>G (p.His200Arg) | |
| 17 | g.4955202A>T | CA397290175 | ENO3 | c.572A>T (p.His191Leu) c.443A>T (p.His148Leu) c.*518A>T (n.*518A>T) c.599A>T (p.His200Leu) | |
| 17 | g.4955203C>A | CA397290179 | ENO3 | c.573C>A (p.His191Gln) c.444C>A (p.His148Gln) c.*519C>A (n.*519C>A) c.600C>A (p.His200Gln) | ClinVar |
| 17 | g.4955203C>G | CA397290181 | ENO3 | c.573C>G (p.His191Gln) c.444C>G (p.His148Gln) c.*519C>G (n.*519C>G) c.600C>G (p.His200Gln) | |
| 17 | g.4955203C>T | CA497679413 | ENO3 | c.573C>T (p.His191=) c.444C>T (p.His148=) c.*519C>T (n.*519C>T) c.600C>T (p.His200=) | |
| 17 | g.4955204C>A | CA397290184 | ENO3 | c.574C>A (p.Leu192Ile) c.445C>A (p.Leu149Ile) c.*520C>A (n.*520C>A) c.601C>A (p.Leu201Ile) | |
| 17 | g.4955204C= | CA2244628339 | ENO3 | c.574C= (p.Leu192=) c.445C= (p.Leu149=) c.*520C= (n.*520C=) c.601C= (p.Leu201=) | |
| 17 | g.4955204C>G | CA397290185 | ENO3 | c.574C>G (p.Leu192Val) c.445C>G (p.Leu149Val) c.*520C>G (n.*520C>G) c.601C>G (p.Leu201Val) | |
| 17 | g.4955204C>T | CA8316355 | ENO3 | c.574C>T (p.Leu192Phe) c.445C>T (p.Leu149Phe) c.*520C>T (n.*520C>T) c.601C>T (p.Leu201Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955205T>A | CA397290189 | ENO3 | c.575T>A (p.Leu192His) c.446T>A (p.Leu149His) c.*521T>A (n.*521T>A) c.602T>A (p.Leu201His) | |
| 17 | g.4955205T>C | CA397290191 | ENO3 | c.575T>C (p.Leu192Pro) c.446T>C (p.Leu149Pro) c.*521T>C (n.*521T>C) c.602T>C (p.Leu201Pro) | gnomAD v4 |
| 17 | g.4955205T>G | CA397290193 | ENO3 | c.575T>G (p.Leu192Arg) c.446T>G (p.Leu149Arg) c.*521T>G (n.*521T>G) c.602T>G (p.Leu201Arg) |