| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162149198T>A | CA362182484 | GABRG2 | c.1014T>A c.1133T>A (p.Phe378Tyr) c.1096T>A n.267T>A c.728T>A (p.Phe243Tyr) c.1013T>A (p.Phe338Tyr) c.890T>A c.404T>A (p.Phe135Tyr) c.941T>A (p.Phe314Tyr) c.*213T>A (n.*213T>A) c.947T>A (p.Phe316Tyr) n.311T>A n.3544T>A c.451T>A c.926T>A (p.Phe309Tyr) c.*615T>A (n.*615T>A) c.1134T>A (n.1134T>A) c.1004T>A (p.Phe335Tyr) c.923-2532T>A (n.923-2532T>A) c.1010T>A (p.Phe337Tyr) c.1052T>A (p.Phe351Tyr) c.593T>A (p.Phe198Tyr) | |
| 5 | g.162149198T>C | CA362182486 | GABRG2 | c.1014T>C c.1133T>C (p.Phe378Ser) c.1096T>C n.267T>C c.728T>C (p.Phe243Ser) c.1013T>C (p.Phe338Ser) c.890T>C c.404T>C (p.Phe135Ser) c.941T>C (p.Phe314Ser) c.*213T>C (n.*213T>C) c.947T>C (p.Phe316Ser) n.311T>C n.3544T>C c.451T>C c.926T>C (p.Phe309Ser) c.*615T>C (n.*615T>C) c.1134T>C (n.1134T>C) c.1004T>C (p.Phe335Ser) c.923-2532T>C (n.923-2532T>C) c.1010T>C (p.Phe337Ser) c.1052T>C (p.Phe351Ser) c.593T>C (p.Phe198Ser) | |
| 5 | g.162149198T>G | CA362182485 | GABRG2 | c.1014T>G c.1133T>G (p.Phe378Cys) c.1096T>G n.267T>G c.728T>G (p.Phe243Cys) c.1013T>G (p.Phe338Cys) c.890T>G c.404T>G (p.Phe135Cys) c.941T>G (p.Phe314Cys) c.*213T>G (n.*213T>G) c.947T>G (p.Phe316Cys) n.311T>G n.3544T>G c.451T>G c.926T>G (p.Phe309Cys) c.*615T>G (n.*615T>G) c.1134T>G (n.1134T>G) c.1004T>G (p.Phe335Cys) c.923-2532T>G (n.923-2532T>G) c.1010T>G (p.Phe337Cys) c.1052T>G (p.Phe351Cys) c.593T>G (p.Phe198Cys) | |
| 5 | g.162149199T>A | CA362182487 | GABRG2 | c.1015T>A c.1134T>A (p.Phe378Leu) c.1097T>A n.268T>A c.729T>A (p.Phe243Leu) c.1014T>A (p.Phe338Leu) c.891T>A c.405T>A (p.Phe135Leu) c.942T>A (p.Phe314Leu) c.*214T>A (n.*214T>A) c.948T>A (p.Phe316Leu) n.312T>A n.3545T>A c.452T>A c.927T>A (p.Phe309Leu) c.*616T>A (n.*616T>A) c.1135T>A (n.1135T>A) c.1005T>A (p.Phe335Leu) c.923-2531T>A (n.923-2531T>A) c.1011T>A (p.Phe337Leu) c.1053T>A (p.Phe351Leu) c.594T>A (p.Phe198Leu) | |
| 5 | g.162149199T>C | CA16604858 | GABRG2 | c.1015T>C c.1134T>C (p.Phe378=) c.1097T>C n.268T>C c.729T>C (p.Phe243=) c.1014T>C (p.Phe338=) c.891T>C c.405T>C (p.Phe135=) c.942T>C (p.Phe314=) c.*214T>C (n.*214T>C) c.948T>C (p.Phe316=) n.312T>C n.3545T>C c.452T>C c.927T>C (p.Phe309=) c.*616T>C (n.*616T>C) c.1135T>C (n.1135T>C) c.1005T>C (p.Phe335=) c.923-2531T>C (n.923-2531T>C) c.1011T>C (p.Phe337=) c.1053T>C (p.Phe351=) c.594T>C (p.Phe198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.162149199T>G | CA362182488 | GABRG2 | c.1015T>G c.1134T>G (p.Phe378Leu) c.1097T>G n.268T>G c.729T>G (p.Phe243Leu) c.1014T>G (p.Phe338Leu) c.891T>G c.405T>G (p.Phe135Leu) c.942T>G (p.Phe314Leu) c.*214T>G (n.*214T>G) c.948T>G (p.Phe316Leu) n.312T>G n.3545T>G c.452T>G c.927T>G (p.Phe309Leu) c.*616T>G (n.*616T>G) c.1135T>G (n.1135T>G) c.1005T>G (p.Phe335Leu) c.923-2531T>G (n.923-2531T>G) c.1011T>G (p.Phe337Leu) c.1053T>G (p.Phe351Leu) c.594T>G (p.Phe198Leu) | |
| 5 | g.162149199T= | CA1596380262 | GABRG2 | c.1015T= c.1134T= (p.Phe378=) c.1097T= n.268T= c.729T= (p.Phe243=) c.1014T= (p.Phe338=) c.891T= c.405T= (p.Phe135=) c.942T= (p.Phe314=) c.*214T= (n.*214T=) c.948T= (p.Phe316=) n.312T= n.3545T= c.452T= c.927T= (p.Phe309=) c.*616T= (n.*616T=) c.1135T= (n.1135T=) c.1005T= (p.Phe335=) c.923-2531T= (n.923-2531T=) c.1011T= (p.Phe337=) c.1053T= (p.Phe351=) c.594T= (p.Phe198=) | |
| 5 | g.162149200G>A | CA362182489 | GABRG2 | c.1016G>A c.1135G>A (p.Val379Ile) c.1098G>A n.269G>A c.730G>A (p.Val244Ile) c.1015G>A (p.Val339Ile) c.892G>A c.406G>A (p.Val136Ile) c.943G>A (p.Val315Ile) c.*215G>A (n.*215G>A) c.949G>A (p.Val317Ile) n.313G>A n.3546G>A c.453G>A c.928G>A (p.Val310Ile) c.*617G>A (n.*617G>A) c.1136G>A (n.1136G>A) c.1006G>A (p.Val336Ile) c.923-2530G>A (n.923-2530G>A) c.1012G>A (p.Val338Ile) c.1054G>A (p.Val352Ile) c.595G>A (p.Val199Ile) | |
| 5 | g.162149200G>C | CA362182490 | GABRG2 | c.1016G>C c.1135G>C (p.Val379Leu) c.1098G>C n.269G>C c.730G>C (p.Val244Leu) c.1015G>C (p.Val339Leu) c.892G>C c.406G>C (p.Val136Leu) c.943G>C (p.Val315Leu) c.*215G>C (n.*215G>C) c.949G>C (p.Val317Leu) n.313G>C n.3546G>C c.453G>C c.928G>C (p.Val310Leu) c.*617G>C (n.*617G>C) c.1136G>C (n.1136G>C) c.1006G>C (p.Val336Leu) c.923-2530G>C (n.923-2530G>C) c.1012G>C (p.Val338Leu) c.1054G>C (p.Val352Leu) c.595G>C (p.Val199Leu) | |
| 5 | g.162149200G= | CA1596380263 | GABRG2 | c.1016G= c.1135G= (p.Val379=) c.1098G= n.269G= c.730G= (p.Val244=) c.1015G= (p.Val339=) c.892G= c.406G= (p.Val136=) c.943G= (p.Val315=) c.*215G= (n.*215G=) c.949G= (p.Val317=) n.313G= n.3546G= c.453G= c.928G= (p.Val310=) c.*617G= (n.*617G=) c.1136G= (n.1136G=) c.1006G= (p.Val336=) c.923-2530G= (n.923-2530G=) c.1012G= (p.Val338=) c.1054G= (p.Val352=) c.595G= (p.Val199=) | |
| 5 | g.162149200G>T | CA362182491 | GABRG2 | c.1016G>T c.1135G>T (p.Val379Leu) c.1098G>T n.269G>T c.730G>T (p.Val244Leu) c.1015G>T (p.Val339Leu) c.892G>T c.406G>T (p.Val136Leu) c.943G>T (p.Val315Leu) c.*215G>T (n.*215G>T) c.949G>T (p.Val317Leu) n.313G>T n.3546G>T c.453G>T c.928G>T (p.Val310Leu) c.*617G>T (n.*617G>T) c.1136G>T (n.1136G>T) c.1006G>T (p.Val336Leu) c.923-2530G>T (n.923-2530G>T) c.1012G>T (p.Val338Leu) c.1054G>T (p.Val352Leu) c.595G>T (p.Val199Leu) | dbSNP |
| 5 | g.162149201T>A | CA362182492 | GABRG2 | c.1017T>A c.1136T>A (p.Val379Glu) c.1099T>A n.270T>A c.731T>A (p.Val244Glu) c.1016T>A (p.Val339Glu) c.893T>A c.407T>A (p.Val136Glu) c.944T>A (p.Val315Glu) c.*216T>A (n.*216T>A) c.950T>A (p.Val317Glu) n.314T>A n.3547T>A c.454T>A c.929T>A (p.Val310Glu) c.*618T>A (n.*618T>A) c.1137T>A (n.1137T>A) c.1007T>A (p.Val336Glu) c.923-2529T>A (n.923-2529T>A) c.1013T>A (p.Val338Glu) c.1055T>A (p.Val352Glu) c.596T>A (p.Val199Glu) | |
| 5 | g.162149201T>C | CA362182493 | GABRG2 | c.1017T>C c.1136T>C (p.Val379Ala) c.1099T>C n.270T>C c.731T>C (p.Val244Ala) c.1016T>C (p.Val339Ala) c.893T>C c.407T>C (p.Val136Ala) c.944T>C (p.Val315Ala) c.*216T>C (n.*216T>C) c.950T>C (p.Val317Ala) n.314T>C n.3547T>C c.454T>C c.929T>C (p.Val310Ala) c.*618T>C (n.*618T>C) c.1137T>C (n.1137T>C) c.1007T>C (p.Val336Ala) c.923-2529T>C (n.923-2529T>C) c.1013T>C (p.Val338Ala) c.1055T>C (p.Val352Ala) c.596T>C (p.Val199Ala) | |
| 5 | g.162149201T>G | CA362182494 | GABRG2 | c.1017T>G c.1136T>G (p.Val379Gly) c.1099T>G n.270T>G c.731T>G (p.Val244Gly) c.1016T>G (p.Val339Gly) c.893T>G c.407T>G (p.Val136Gly) c.944T>G (p.Val315Gly) c.*216T>G (n.*216T>G) c.950T>G (p.Val317Gly) n.314T>G n.3547T>G c.454T>G c.929T>G (p.Val310Gly) c.*618T>G (n.*618T>G) c.1137T>G (n.1137T>G) c.1007T>G (p.Val336Gly) c.923-2529T>G (n.923-2529T>G) c.1013T>G (p.Val338Gly) c.1055T>G (p.Val352Gly) c.596T>G (p.Val199Gly) | |
| 5 | g.162149202A= | CA1596380264 | GABRG2 | c.1018A= c.1137A= (p.Val379=) c.1100A= n.271A= c.732A= (p.Val244=) c.1017A= (p.Val339=) c.894A= c.408A= (p.Val136=) c.945A= (p.Val315=) c.*217A= (n.*217A=) c.951A= (p.Val317=) n.315A= n.3548A= c.455A= c.930A= (p.Val310=) c.*619A= (n.*619A=) c.1138A= (n.1138A=) c.1008A= (p.Val336=) c.923-2528A= (n.923-2528A=) c.1014A= (p.Val338=) c.1056A= (p.Val352=) c.597A= (p.Val199=) | |
| 5 | g.162149202A>C | CA447610283 | GABRG2 | c.1018A>C c.1137A>C (p.Val379=) c.1100A>C n.271A>C c.732A>C (p.Val244=) c.1017A>C (p.Val339=) c.894A>C c.408A>C (p.Val136=) c.945A>C (p.Val315=) c.*217A>C (n.*217A>C) c.951A>C (p.Val317=) n.315A>C n.3548A>C c.455A>C c.930A>C (p.Val310=) c.*619A>C (n.*619A>C) c.1138A>C (n.1138A>C) c.1008A>C (p.Val336=) c.923-2528A>C (n.923-2528A>C) c.1014A>C (p.Val338=) c.1056A>C (p.Val352=) c.597A>C (p.Val199=) | |
| 5 | g.162149202A>G | CA447610284 | GABRG2 | c.1018A>G c.1137A>G (p.Val379=) c.1100A>G n.271A>G c.732A>G (p.Val244=) c.1017A>G (p.Val339=) c.894A>G c.408A>G (p.Val136=) c.945A>G (p.Val315=) c.*217A>G (n.*217A>G) c.951A>G (p.Val317=) n.315A>G n.3548A>G c.455A>G c.930A>G (p.Val310=) c.*619A>G (n.*619A>G) c.1138A>G (n.1138A>G) c.1008A>G (p.Val336=) c.923-2528A>G (n.923-2528A>G) c.1014A>G (p.Val338=) c.1056A>G (p.Val352=) c.597A>G (p.Val199=) | |
| 5 | g.162149202A>T | CA3544866 | GABRG2 | c.1018A>T c.1137A>T (p.Val379=) c.1100A>T n.271A>T c.732A>T (p.Val244=) c.1017A>T (p.Val339=) c.894A>T c.408A>T (p.Val136=) c.945A>T (p.Val315=) c.*217A>T (n.*217A>T) c.951A>T (p.Val317=) n.315A>T n.3548A>T c.455A>T c.930A>T (p.Val310=) c.*619A>T (n.*619A>T) c.1138A>T (n.1138A>T) c.1008A>T (p.Val336=) c.923-2528A>T (n.923-2528A>T) c.1014A>T (p.Val338=) c.1056A>T (p.Val352=) c.597A>T (p.Val199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.162149203T>A | CA362182495 | GABRG2 | c.1019T>A c.1138T>A (p.Ser380Thr) c.1101T>A n.272T>A c.733T>A (p.Ser245Thr) c.1018T>A (p.Ser340Thr) c.895T>A c.409T>A (p.Ser137Thr) c.946T>A (p.Ser316Thr) c.*218T>A (n.*218T>A) c.952T>A (p.Ser318Thr) n.316T>A n.3549T>A c.456T>A c.931T>A (p.Ser311Thr) c.*620T>A (n.*620T>A) c.1139T>A (n.1139T>A) c.1009T>A (p.Ser337Thr) c.923-2527T>A (n.923-2527T>A) c.1015T>A (p.Ser339Thr) c.1057T>A (p.Ser353Thr) c.598T>A (p.Ser200Thr) | |
| 5 | g.162149203T>C | CA362182496 | GABRG2 | c.1019T>C c.1138T>C (p.Ser380Pro) c.1101T>C n.272T>C c.733T>C (p.Ser245Pro) c.1018T>C (p.Ser340Pro) c.895T>C c.409T>C (p.Ser137Pro) c.946T>C (p.Ser316Pro) c.*218T>C (n.*218T>C) c.952T>C (p.Ser318Pro) n.316T>C n.3549T>C c.456T>C c.931T>C (p.Ser311Pro) c.*620T>C (n.*620T>C) c.1139T>C (n.1139T>C) c.1009T>C (p.Ser337Pro) c.923-2527T>C (n.923-2527T>C) c.1015T>C (p.Ser339Pro) c.1057T>C (p.Ser353Pro) c.598T>C (p.Ser200Pro) | |
| 5 | g.162149203T>G | CA362182497 | GABRG2 | c.1019T>G c.1138T>G (p.Ser380Ala) c.1101T>G n.272T>G c.733T>G (p.Ser245Ala) c.1018T>G (p.Ser340Ala) c.895T>G c.409T>G (p.Ser137Ala) c.946T>G (p.Ser316Ala) c.*218T>G (n.*218T>G) c.952T>G (p.Ser318Ala) n.316T>G n.3549T>G c.456T>G c.931T>G (p.Ser311Ala) c.*620T>G (n.*620T>G) c.1139T>G (n.1139T>G) c.1009T>G (p.Ser337Ala) c.923-2527T>G (n.923-2527T>G) c.1015T>G (p.Ser339Ala) c.1057T>G (p.Ser353Ala) c.598T>G (p.Ser200Ala) | |
| 5 | g.162149204C>A | CA362182498 | GABRG2 | c.1020C>A c.1139C>A (p.Ser380Tyr) c.1102C>A n.273C>A c.734C>A (p.Ser245Tyr) c.1019C>A (p.Ser340Tyr) c.896C>A c.410C>A (p.Ser137Tyr) c.947C>A (p.Ser316Tyr) c.*219C>A (n.*219C>A) c.953C>A (p.Ser318Tyr) n.317C>A n.3550C>A c.457C>A c.932C>A (p.Ser311Tyr) c.*621C>A (n.*621C>A) c.1140C>A (n.1140C>A) c.1010C>A (p.Ser337Tyr) c.923-2526C>A (n.923-2526C>A) c.1016C>A (p.Ser339Tyr) c.1058C>A (p.Ser353Tyr) c.599C>A (p.Ser200Tyr) | COSMIC |
| 5 | g.162149204C>G | CA362182499 | GABRG2 | c.1020C>G c.1139C>G (p.Ser380Cys) c.1102C>G n.273C>G c.734C>G (p.Ser245Cys) c.1019C>G (p.Ser340Cys) c.896C>G c.410C>G (p.Ser137Cys) c.947C>G (p.Ser316Cys) c.*219C>G (n.*219C>G) c.953C>G (p.Ser318Cys) n.317C>G n.3550C>G c.457C>G c.932C>G (p.Ser311Cys) c.*621C>G (n.*621C>G) c.1140C>G (n.1140C>G) c.1010C>G (p.Ser337Cys) c.923-2526C>G (n.923-2526C>G) c.1016C>G (p.Ser339Cys) c.1058C>G (p.Ser353Cys) c.599C>G (p.Ser200Cys) | |
| 5 | g.162149204C>T | CA362182500 | GABRG2 | c.1020C>T c.1139C>T (p.Ser380Phe) c.1102C>T n.273C>T c.734C>T (p.Ser245Phe) c.1019C>T (p.Ser340Phe) c.896C>T c.410C>T (p.Ser137Phe) c.947C>T (p.Ser316Phe) c.*219C>T (n.*219C>T) c.953C>T (p.Ser318Phe) n.317C>T n.3550C>T c.457C>T c.932C>T (p.Ser311Phe) c.*621C>T (n.*621C>T) c.1140C>T (n.1140C>T) c.1010C>T (p.Ser337Phe) c.923-2526C>T (n.923-2526C>T) c.1016C>T (p.Ser339Phe) c.1058C>T (p.Ser353Phe) c.599C>T (p.Ser200Phe) | |
| 5 | g.162149205T>A | CA447610285 | GABRG2 | c.1021T>A c.1140T>A (p.Ser380=) c.1103T>A n.274T>A c.735T>A (p.Ser245=) c.1020T>A (p.Ser340=) c.897T>A c.411T>A (p.Ser137=) c.948T>A (p.Ser316=) c.*220T>A (n.*220T>A) c.954T>A (p.Ser318=) n.318T>A n.3551T>A c.458T>A c.933T>A (p.Ser311=) c.*622T>A (n.*622T>A) c.1141T>A (n.1141T>A) c.1011T>A (p.Ser337=) c.923-2525T>A (n.923-2525T>A) c.1017T>A (p.Ser339=) c.1059T>A (p.Ser353=) c.600T>A (p.Ser200=) | |
| 5 | g.162149205T>C | CA447610286 | GABRG2 | c.1021T>C c.1140T>C (p.Ser380=) c.1103T>C n.274T>C c.735T>C (p.Ser245=) c.1020T>C (p.Ser340=) c.897T>C c.411T>C (p.Ser137=) c.948T>C (p.Ser316=) c.*220T>C (n.*220T>C) c.954T>C (p.Ser318=) n.318T>C n.3551T>C c.458T>C c.933T>C (p.Ser311=) c.*622T>C (n.*622T>C) c.1141T>C (n.1141T>C) c.1011T>C (p.Ser337=) c.923-2525T>C (n.923-2525T>C) c.1017T>C (p.Ser339=) c.1059T>C (p.Ser353=) c.600T>C (p.Ser200=) | |
| 5 | g.162149205T>G | CA447610287 | GABRG2 | c.1021T>G c.1140T>G (p.Ser380=) c.1103T>G n.274T>G c.735T>G (p.Ser245=) c.1020T>G (p.Ser340=) c.897T>G c.411T>G (p.Ser137=) c.948T>G (p.Ser316=) c.*220T>G (n.*220T>G) c.954T>G (p.Ser318=) n.318T>G n.3551T>G c.458T>G c.933T>G (p.Ser311=) c.*622T>G (n.*622T>G) c.1141T>G (n.1141T>G) c.1011T>G (p.Ser337=) c.923-2525T>G (n.923-2525T>G) c.1017T>G (p.Ser339=) c.1059T>G (p.Ser353=) c.600T>G (p.Ser200=) | |
| 5 | g.162149210_162149213del | CA2695205686 | GABRG2 | c.1026_1029del c.1145_1148del (p.Cys382SerfsTer?) c.1108_1111del n.279_282del c.740_743del (p.Cys247SerfsTer?) c.1025_1028del (p.Cys342SerfsTer?) c.902_905del c.416_419del (p.Cys139SerfsTer?) c.953_956del (p.Cys318SerfsTer?) c.*225_*228del (n.*225_*228del) c.959_962del (p.Cys320SerfsTer?) n.323_326del n.3556_3559del c.463_466del c.938_941del (p.Cys313SerfsTer?) c.*627_*630del (n.*627_*630del) c.1146_1149del (n.1146_1149del) c.1016_1019del (p.Cys339SerfsTer?) c.923-2520_923-2517del (n.923-2520_923-2517del) c.1022_1025del (p.Cys341SerfsTer?) c.1064_1067del (p.Cys355SerfsTer?) c.605_608del (p.Cys202SerfsTer?) | |
| 5 | g.162149206G>A | CA362182501 | GABRG2 | c.1022G>A c.1141G>A (p.Val381Ile) c.1104G>A n.275G>A c.736G>A (p.Val246Ile) c.1021G>A (p.Val341Ile) c.898G>A c.412G>A (p.Val138Ile) c.949G>A (p.Val317Ile) c.*221G>A (n.*221G>A) c.955G>A (p.Val319Ile) n.319G>A n.3552G>A c.459G>A c.934G>A (p.Val312Ile) c.*623G>A (n.*623G>A) c.1142G>A (n.1142G>A) c.1012G>A (p.Val338Ile) c.923-2524G>A (n.923-2524G>A) c.1018G>A (p.Val340Ile) c.1060G>A (p.Val354Ile) c.601G>A (p.Val201Ile) | dbSNP |
| 5 | g.162149206G>C | CA362182503 | GABRG2 | c.1022G>C c.1141G>C (p.Val381Leu) c.1104G>C n.275G>C c.736G>C (p.Val246Leu) c.1021G>C (p.Val341Leu) c.898G>C c.412G>C (p.Val138Leu) c.949G>C (p.Val317Leu) c.*221G>C (n.*221G>C) c.955G>C (p.Val319Leu) n.319G>C n.3552G>C c.459G>C c.934G>C (p.Val312Leu) c.*623G>C (n.*623G>C) c.1142G>C (n.1142G>C) c.1012G>C (p.Val338Leu) c.923-2524G>C (n.923-2524G>C) c.1018G>C (p.Val340Leu) c.1060G>C (p.Val354Leu) c.601G>C (p.Val201Leu) | |
| 5 | g.162149206G= | CA1596380265 | GABRG2 | c.1022G= c.1141G= (p.Val381=) c.1104G= n.275G= c.736G= (p.Val246=) c.1021G= (p.Val341=) c.898G= c.412G= (p.Val138=) c.949G= (p.Val317=) c.*221G= (n.*221G=) c.955G= (p.Val319=) n.319G= n.3552G= c.459G= c.934G= (p.Val312=) c.*623G= (n.*623G=) c.1142G= (n.1142G=) c.1012G= (p.Val338=) c.923-2524G= (n.923-2524G=) c.1018G= (p.Val340=) c.1060G= (p.Val354=) c.601G= (p.Val201=) | |
| 5 | g.162149206G>T | CA362182502 | GABRG2 | c.1022G>T c.1141G>T (p.Val381Phe) c.1104G>T n.275G>T c.736G>T (p.Val246Phe) c.1021G>T (p.Val341Phe) c.898G>T c.412G>T (p.Val138Phe) c.949G>T (p.Val317Phe) c.*221G>T (n.*221G>T) c.955G>T (p.Val319Phe) n.319G>T n.3552G>T c.459G>T c.934G>T (p.Val312Phe) c.*623G>T (n.*623G>T) c.1142G>T (n.1142G>T) c.1012G>T (p.Val338Phe) c.923-2524G>T (n.923-2524G>T) c.1018G>T (p.Val340Phe) c.1060G>T (p.Val354Phe) c.601G>T (p.Val201Phe) | |
| 5 | g.162149207T>A | CA362182504 | GABRG2 | c.1023T>A c.1142T>A (p.Val381Asp) c.1105T>A n.276T>A c.737T>A (p.Val246Asp) c.1022T>A (p.Val341Asp) c.899T>A c.413T>A (p.Val138Asp) c.950T>A (p.Val317Asp) c.*222T>A (n.*222T>A) c.956T>A (p.Val319Asp) n.320T>A n.3553T>A c.460T>A c.935T>A (p.Val312Asp) c.*624T>A (n.*624T>A) c.1143T>A (n.1143T>A) c.1013T>A (p.Val338Asp) c.923-2523T>A (n.923-2523T>A) c.1019T>A (p.Val340Asp) c.1061T>A (p.Val354Asp) c.602T>A (p.Val201Asp) | |
| 5 | g.162149207T>C | CA362182505 | GABRG2 | c.1023T>C c.1142T>C (p.Val381Ala) c.1105T>C n.276T>C c.737T>C (p.Val246Ala) c.1022T>C (p.Val341Ala) c.899T>C c.413T>C (p.Val138Ala) c.950T>C (p.Val317Ala) c.*222T>C (n.*222T>C) c.956T>C (p.Val319Ala) n.320T>C n.3553T>C c.460T>C c.935T>C (p.Val312Ala) c.*624T>C (n.*624T>C) c.1143T>C (n.1143T>C) c.1013T>C (p.Val338Ala) c.923-2523T>C (n.923-2523T>C) c.1019T>C (p.Val340Ala) c.1061T>C (p.Val354Ala) c.602T>C (p.Val201Ala) | COSMIC |
| 5 | g.162149207T>G | CA362182506 | GABRG2 | c.1023T>G c.1142T>G (p.Val381Gly) c.1105T>G n.276T>G c.737T>G (p.Val246Gly) c.1022T>G (p.Val341Gly) c.899T>G c.413T>G (p.Val138Gly) c.950T>G (p.Val317Gly) c.*222T>G (n.*222T>G) c.956T>G (p.Val319Gly) n.320T>G n.3553T>G c.460T>G c.935T>G (p.Val312Gly) c.*624T>G (n.*624T>G) c.1143T>G (n.1143T>G) c.1013T>G (p.Val338Gly) c.923-2523T>G (n.923-2523T>G) c.1019T>G (p.Val340Gly) c.1061T>G (p.Val354Gly) c.602T>G (p.Val201Gly) | |
| 5 | g.162149208T>A | CA447610288 | GABRG2 | c.1024T>A c.1143T>A (p.Val381=) c.1106T>A n.277T>A c.738T>A (p.Val246=) c.1023T>A (p.Val341=) c.900T>A c.414T>A (p.Val138=) c.951T>A (p.Val317=) c.*223T>A (n.*223T>A) c.957T>A (p.Val319=) n.321T>A n.3554T>A c.461T>A c.936T>A (p.Val312=) c.*625T>A (n.*625T>A) c.1144T>A (n.1144T>A) c.1014T>A (p.Val338=) c.923-2522T>A (n.923-2522T>A) c.1020T>A (p.Val340=) c.1062T>A (p.Val354=) c.603T>A (p.Val201=) | |
| 5 | g.162149208T>C | CA447610289 | GABRG2 | c.1024T>C c.1143T>C (p.Val381=) c.1106T>C n.277T>C c.738T>C (p.Val246=) c.1023T>C (p.Val341=) c.900T>C c.414T>C (p.Val138=) c.951T>C (p.Val317=) c.*223T>C (n.*223T>C) c.957T>C (p.Val319=) n.321T>C n.3554T>C c.461T>C c.936T>C (p.Val312=) c.*625T>C (n.*625T>C) c.1144T>C (n.1144T>C) c.1014T>C (p.Val338=) c.923-2522T>C (n.923-2522T>C) c.1020T>C (p.Val340=) c.1062T>C (p.Val354=) c.603T>C (p.Val201=) | |
| 5 | g.162149208T>G | CA447610290 | GABRG2 | c.1024T>G c.1143T>G (p.Val381=) c.1106T>G n.277T>G c.738T>G (p.Val246=) c.1023T>G (p.Val341=) c.900T>G c.414T>G (p.Val138=) c.951T>G (p.Val317=) c.*223T>G (n.*223T>G) c.957T>G (p.Val319=) n.321T>G n.3554T>G c.461T>G c.936T>G (p.Val312=) c.*625T>G (n.*625T>G) c.1144T>G (n.1144T>G) c.1014T>G (p.Val338=) c.923-2522T>G (n.923-2522T>G) c.1020T>G (p.Val340=) c.1062T>G (p.Val354=) c.603T>G (p.Val201=) | |
| 5 | g.162149209T>A | CA362182507 | GABRG2 | c.1025T>A c.1144T>A (p.Cys382Ser) c.1107T>A n.278T>A c.739T>A (p.Cys247Ser) c.1024T>A (p.Cys342Ser) c.901T>A c.415T>A (p.Cys139Ser) c.952T>A (p.Cys318Ser) c.*224T>A (n.*224T>A) c.958T>A (p.Cys320Ser) n.322T>A n.3555T>A c.462T>A c.937T>A (p.Cys313Ser) c.*626T>A (n.*626T>A) c.1145T>A (n.1145T>A) c.1015T>A (p.Cys339Ser) c.923-2521T>A (n.923-2521T>A) c.1021T>A (p.Cys341Ser) c.1063T>A (p.Cys355Ser) c.604T>A (p.Cys202Ser) | |
| 5 | g.162149209T>C | CA362182508 | GABRG2 | c.1025T>C c.1144T>C (p.Cys382Arg) c.1107T>C n.278T>C c.739T>C (p.Cys247Arg) c.1024T>C (p.Cys342Arg) c.901T>C c.415T>C (p.Cys139Arg) c.952T>C (p.Cys318Arg) c.*224T>C (n.*224T>C) c.958T>C (p.Cys320Arg) n.322T>C n.3555T>C c.462T>C c.937T>C (p.Cys313Arg) c.*626T>C (n.*626T>C) c.1145T>C (n.1145T>C) c.1015T>C (p.Cys339Arg) c.923-2521T>C (n.923-2521T>C) c.1021T>C (p.Cys341Arg) c.1063T>C (p.Cys355Arg) c.604T>C (p.Cys202Arg) | |
| 5 | g.162149209T>G | CA362182509 | GABRG2 | c.1025T>G c.1144T>G (p.Cys382Gly) c.1107T>G n.278T>G c.739T>G (p.Cys247Gly) c.1024T>G (p.Cys342Gly) c.901T>G c.415T>G (p.Cys139Gly) c.952T>G (p.Cys318Gly) c.*224T>G (n.*224T>G) c.958T>G (p.Cys320Gly) n.322T>G n.3555T>G c.462T>G c.937T>G (p.Cys313Gly) c.*626T>G (n.*626T>G) c.1145T>G (n.1145T>G) c.1015T>G (p.Cys339Gly) c.923-2521T>G (n.923-2521T>G) c.1021T>G (p.Cys341Gly) c.1063T>G (p.Cys355Gly) c.604T>G (p.Cys202Gly) | |
| 5 | g.162149209_162149210delinsTG | CA1596380266 | GABRG2 | c.1025_1026delinsTG c.1144_1145delinsTG (p.Cys382=) c.1107_1108delinsTG n.278_279delinsTG c.739_740delinsTG (p.Cys247=) c.1024_1025delinsTG (p.Cys342=) c.901_902delinsTG c.415_416delinsTG (p.Cys139=) c.952_953delinsTG (p.Cys318=) c.*224_*225delinsTG (n.*224_*225delinsTG) c.958_959delinsTG (p.Cys320=) n.322_323delinsTG n.3555_3556delinsTG c.462_463delinsTG c.937_938delinsTG (p.Cys313=) c.*626_*627delinsTG (n.*626_*627delinsTG) c.1145_1146delinsTG (n.1145_1146delinsTG) c.1015_1016delinsTG (p.Cys339=) c.923-2521_923-2520delinsTG (n.923-2521_923-2520delinsTG) c.1021_1022delinsTG (p.Cys341=) c.1063_1064delinsTG (p.Cys355=) c.604_605delinsTG (p.Cys202=) | |
| 5 | g.162149210del | CA16611898 | GABRG2 | c.1026del c.1145del (p.Cys382PhefsTer?) c.1108del n.279del c.740del (p.Cys247PhefsTer?) c.1025del (p.Cys342PhefsTer?) c.902del c.416del (p.Cys139PhefsTer?) c.953del (p.Cys318PhefsTer?) c.*225del (n.*225del) c.959del (p.Cys320PhefsTer?) n.323del n.3556del c.463del c.938del (p.Cys313PhefsTer?) c.*627del (n.*627del) c.1146del (n.1146del) c.1016del (p.Cys339PhefsTer?) c.923-2520del (n.923-2520del) c.1022del (p.Cys341PhefsTer?) c.1064del (p.Cys355PhefsTer?) c.605del (p.Cys202PhefsTer?) | ClinVar dbSNP |
| 5 | g.162149210G>A | CA362182510 | GABRG2 | c.1026G>A c.1145G>A (p.Cys382Tyr) c.1108G>A n.279G>A c.740G>A (p.Cys247Tyr) c.1025G>A (p.Cys342Tyr) c.902G>A c.416G>A (p.Cys139Tyr) c.953G>A (p.Cys318Tyr) c.*225G>A (n.*225G>A) c.959G>A (p.Cys320Tyr) n.323G>A n.3556G>A c.463G>A c.938G>A (p.Cys313Tyr) c.*627G>A (n.*627G>A) c.1146G>A (n.1146G>A) c.1016G>A (p.Cys339Tyr) c.923-2520G>A (n.923-2520G>A) c.1022G>A (p.Cys341Tyr) c.1064G>A (p.Cys355Tyr) c.605G>A (p.Cys202Tyr) | ClinVar dbSNP |
| 5 | g.162149210G>C | CA362182511 | GABRG2 | c.1026G>C c.1145G>C (p.Cys382Ser) c.1108G>C n.279G>C c.740G>C (p.Cys247Ser) c.1025G>C (p.Cys342Ser) c.902G>C c.416G>C (p.Cys139Ser) c.953G>C (p.Cys318Ser) c.*225G>C (n.*225G>C) c.959G>C (p.Cys320Ser) n.323G>C n.3556G>C c.463G>C c.938G>C (p.Cys313Ser) c.*627G>C (n.*627G>C) c.1146G>C (n.1146G>C) c.1016G>C (p.Cys339Ser) c.923-2520G>C (n.923-2520G>C) c.1022G>C (p.Cys341Ser) c.1064G>C (p.Cys355Ser) c.605G>C (p.Cys202Ser) | |
| 5 | g.162149210G>T | CA362182512 | GABRG2 | c.1026G>T c.1145G>T (p.Cys382Phe) c.1108G>T n.279G>T c.740G>T (p.Cys247Phe) c.1025G>T (p.Cys342Phe) c.902G>T c.416G>T (p.Cys139Phe) c.953G>T (p.Cys318Phe) c.*225G>T (n.*225G>T) c.959G>T (p.Cys320Phe) n.323G>T n.3556G>T c.463G>T c.938G>T (p.Cys313Phe) c.*627G>T (n.*627G>T) c.1146G>T (n.1146G>T) c.1016G>T (p.Cys339Phe) c.923-2520G>T (n.923-2520G>T) c.1022G>T (p.Cys341Phe) c.1064G>T (p.Cys355Phe) c.605G>T (p.Cys202Phe) | |
| 5 | g.162149211T>A | CA362182513 | GABRG2 | c.1027T>A c.1146T>A (p.Cys382Ter) c.1109T>A n.280T>A c.741T>A (p.Cys247Ter) c.1026T>A (p.Cys342Ter) c.903T>A c.417T>A (p.Cys139Ter) c.954T>A (p.Cys318Ter) c.*226T>A (n.*226T>A) c.960T>A (p.Cys320Ter) n.324T>A n.3557T>A c.464T>A c.939T>A (p.Cys313Ter) c.*628T>A (n.*628T>A) c.1147T>A (n.1147T>A) c.1017T>A (p.Cys339Ter) c.923-2519T>A (n.923-2519T>A) c.1023T>A (p.Cys341Ter) c.1065T>A (p.Cys355Ter) c.606T>A (p.Cys202Ter) | |
| 5 | g.162149211T>C | CA447610291 | GABRG2 | c.1027T>C c.1146T>C (p.Cys382=) c.1109T>C n.280T>C c.741T>C (p.Cys247=) c.1026T>C (p.Cys342=) c.903T>C c.417T>C (p.Cys139=) c.954T>C (p.Cys318=) c.*226T>C (n.*226T>C) c.960T>C (p.Cys320=) n.324T>C n.3557T>C c.464T>C c.939T>C (p.Cys313=) c.*628T>C (n.*628T>C) c.1147T>C (n.1147T>C) c.1017T>C (p.Cys339=) c.923-2519T>C (n.923-2519T>C) c.1023T>C (p.Cys341=) c.1065T>C (p.Cys355=) c.606T>C (p.Cys202=) | gnomAD v4 |
| 5 | g.162149211T>G | CA362182514 | GABRG2 | c.1027T>G c.1146T>G (p.Cys382Trp) c.1109T>G n.280T>G c.741T>G (p.Cys247Trp) c.1026T>G (p.Cys342Trp) c.903T>G c.417T>G (p.Cys139Trp) c.954T>G (p.Cys318Trp) c.*226T>G (n.*226T>G) c.960T>G (p.Cys320Trp) n.324T>G n.3557T>G c.464T>G c.939T>G (p.Cys313Trp) c.*628T>G (n.*628T>G) c.1147T>G (n.1147T>G) c.1017T>G (p.Cys339Trp) c.923-2519T>G (n.923-2519T>G) c.1023T>G (p.Cys341Trp) c.1065T>G (p.Cys355Trp) c.606T>G (p.Cys202Trp) | |
| 5 | g.162149212T>A | CA362182515 | GABRG2 | c.1028T>A c.1147T>A (p.Phe383Ile) c.1110T>A n.281T>A c.742T>A (p.Phe248Ile) c.1027T>A (p.Phe343Ile) c.904T>A c.418T>A (p.Phe140Ile) c.955T>A (p.Phe319Ile) c.*227T>A (n.*227T>A) c.961T>A (p.Phe321Ile) n.325T>A n.3558T>A c.465T>A c.940T>A (p.Phe314Ile) c.*629T>A (n.*629T>A) c.1148T>A (n.1148T>A) c.1018T>A (p.Phe340Ile) c.923-2518T>A (n.923-2518T>A) c.1024T>A (p.Phe342Ile) c.1066T>A (p.Phe356Ile) c.607T>A (p.Phe203Ile) |