Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.162149149G>A | CA362182381 | GABRG2 | c.965G>A c.1084G>A (p.Ala362Thr) n.855G>A c.1047G>A n.218G>A c.679G>A (p.Ala227Thr) c.964G>A (p.Ala322Thr) c.841G>A c.355G>A (p.Ala119Thr) c.892G>A (p.Ala298Thr) c.*164G>A (n.*164G>A) c.898G>A (p.Ala300Thr) n.262G>A n.3495G>A c.402G>A c.877G>A (p.Ala293Thr) c.*566G>A (n.*566G>A) c.1085G>A (n.1085G>A) c.955G>A (p.Ala319Thr) c.923-2581G>A (n.923-2581G>A) c.961G>A (p.Ala321Thr) c.1003G>A (p.Ala335Thr) c.544G>A (p.Ala182Thr) | COSMIC |
5 | g.162149149G>C | CA362182382 | GABRG2 | c.965G>C c.1084G>C (p.Ala362Pro) n.855G>C c.1047G>C n.218G>C c.679G>C (p.Ala227Pro) c.964G>C (p.Ala322Pro) c.841G>C c.355G>C (p.Ala119Pro) c.892G>C (p.Ala298Pro) c.*164G>C (n.*164G>C) c.898G>C (p.Ala300Pro) n.262G>C n.3495G>C c.402G>C c.877G>C (p.Ala293Pro) c.*566G>C (n.*566G>C) c.1085G>C (n.1085G>C) c.955G>C (p.Ala319Pro) c.923-2581G>C (n.923-2581G>C) c.961G>C (p.Ala321Pro) c.1003G>C (p.Ala335Pro) c.544G>C (p.Ala182Pro) | |
5 | g.162149149G>T | CA362182383 | GABRG2 | c.965G>T c.1084G>T (p.Ala362Ser) n.855G>T c.1047G>T n.218G>T c.679G>T (p.Ala227Ser) c.964G>T (p.Ala322Ser) c.841G>T c.355G>T (p.Ala119Ser) c.892G>T (p.Ala298Ser) c.*164G>T (n.*164G>T) c.898G>T (p.Ala300Ser) n.262G>T n.3495G>T c.402G>T c.877G>T (p.Ala293Ser) c.*566G>T (n.*566G>T) c.1085G>T (n.1085G>T) c.955G>T (p.Ala319Ser) c.923-2581G>T (n.923-2581G>T) c.961G>T (p.Ala321Ser) c.1003G>T (p.Ala335Ser) c.544G>T (p.Ala182Ser) | COSMIC |
5 | g.162149150C>A | CA362182386 | GABRG2 | c.966C>A c.1085C>A (p.Ala362Asp) n.856C>A c.1048C>A n.219C>A c.680C>A (p.Ala227Asp) c.965C>A (p.Ala322Asp) c.842C>A c.356C>A (p.Ala119Asp) c.893C>A (p.Ala298Asp) c.*165C>A (n.*165C>A) c.899C>A (p.Ala300Asp) n.263C>A n.3496C>A c.403C>A c.878C>A (p.Ala293Asp) c.*567C>A (n.*567C>A) c.1086C>A (n.1086C>A) c.956C>A (p.Ala319Asp) c.923-2580C>A (n.923-2580C>A) c.962C>A (p.Ala321Asp) c.1004C>A (p.Ala335Asp) c.545C>A (p.Ala182Asp) | ClinVar dbSNP |
5 | g.162149150C= | CA1596380242 | GABRG2 | c.966C= c.1085C= (p.Ala362=) n.856C= c.1048C= n.219C= c.680C= (p.Ala227=) c.965C= (p.Ala322=) c.842C= c.356C= (p.Ala119=) c.893C= (p.Ala298=) c.*165C= (n.*165C=) c.899C= (p.Ala300=) n.263C= n.3496C= c.403C= c.878C= (p.Ala293=) c.*567C= (n.*567C=) c.1086C= (n.1086C=) c.956C= (p.Ala319=) c.923-2580C= (n.923-2580C=) c.962C= (p.Ala321=) c.1004C= (p.Ala335=) c.545C= (p.Ala182=) | |
5 | g.162149150C>G | CA362182384 | GABRG2 | c.966C>G c.1085C>G (p.Ala362Gly) n.856C>G c.1048C>G n.219C>G c.680C>G (p.Ala227Gly) c.965C>G (p.Ala322Gly) c.842C>G c.356C>G (p.Ala119Gly) c.893C>G (p.Ala298Gly) c.*165C>G (n.*165C>G) c.899C>G (p.Ala300Gly) n.263C>G n.3496C>G c.403C>G c.878C>G (p.Ala293Gly) c.*567C>G (n.*567C>G) c.1086C>G (n.1086C>G) c.956C>G (p.Ala319Gly) c.923-2580C>G (n.923-2580C>G) c.962C>G (p.Ala321Gly) c.1004C>G (p.Ala335Gly) c.545C>G (p.Ala182Gly) | |
5 | g.162149150C>T | CA362182385 | GABRG2 | c.966C>T c.1085C>T (p.Ala362Val) n.856C>T c.1048C>T n.219C>T c.680C>T (p.Ala227Val) c.965C>T (p.Ala322Val) c.842C>T c.356C>T (p.Ala119Val) c.893C>T (p.Ala298Val) c.*165C>T (n.*165C>T) c.899C>T (p.Ala300Val) n.263C>T n.3496C>T c.403C>T c.878C>T (p.Ala293Val) c.*567C>T (n.*567C>T) c.1086C>T (n.1086C>T) c.956C>T (p.Ala319Val) c.923-2580C>T (n.923-2580C>T) c.962C>T (p.Ala321Val) c.1004C>T (p.Ala335Val) c.545C>T (p.Ala182Val) | |
5 | g.162149151C>A | CA447610253 | GABRG2 | c.967C>A c.1086C>A (p.Ala362=) n.857C>A c.1049C>A n.220C>A c.681C>A (p.Ala227=) c.966C>A (p.Ala322=) c.843C>A c.357C>A (p.Ala119=) c.894C>A (p.Ala298=) c.*166C>A (n.*166C>A) c.900C>A (p.Ala300=) n.264C>A n.3497C>A c.404C>A c.879C>A (p.Ala293=) c.*568C>A (n.*568C>A) c.1087C>A (n.1087C>A) c.957C>A (p.Ala319=) c.923-2579C>A (n.923-2579C>A) c.963C>A (p.Ala321=) c.1005C>A (p.Ala335=) c.546C>A (p.Ala182=) | |
5 | g.162149151C>G | CA447610254 | GABRG2 | c.967C>G c.1086C>G (p.Ala362=) n.857C>G c.1049C>G n.220C>G c.681C>G (p.Ala227=) c.966C>G (p.Ala322=) c.843C>G c.357C>G (p.Ala119=) c.894C>G (p.Ala298=) c.*166C>G (n.*166C>G) c.900C>G (p.Ala300=) n.264C>G n.3497C>G c.404C>G c.879C>G (p.Ala293=) c.*568C>G (n.*568C>G) c.1087C>G (n.1087C>G) c.957C>G (p.Ala319=) c.923-2579C>G (n.923-2579C>G) c.963C>G (p.Ala321=) c.1005C>G (p.Ala335=) c.546C>G (p.Ala182=) | |
5 | g.162149151C>T | CA447610255 | GABRG2 | c.967C>T c.1086C>T (p.Ala362=) n.857C>T c.1049C>T n.220C>T c.681C>T (p.Ala227=) c.966C>T (p.Ala322=) c.843C>T c.357C>T (p.Ala119=) c.894C>T (p.Ala298=) c.*166C>T (n.*166C>T) c.900C>T (p.Ala300=) n.264C>T n.3497C>T c.404C>T c.879C>T (p.Ala293=) c.*568C>T (n.*568C>T) c.1087C>T (n.1087C>T) c.957C>T (p.Ala319=) c.923-2579C>T (n.923-2579C>T) c.963C>T (p.Ala321=) c.1005C>T (p.Ala335=) c.546C>T (p.Ala182=) | |
5 | g.162149152C>A | CA447610256 | GABRG2 | c.968C>A c.1087C>A (p.Arg363=) n.858C>A c.1050C>A n.221C>A c.682C>A (p.Arg228=) c.967C>A (p.Arg323=) c.844C>A c.358C>A (p.Arg120=) c.895C>A (p.Arg299=) c.*167C>A (n.*167C>A) c.901C>A (p.Arg301=) n.265C>A n.3498C>A c.405C>A c.880C>A (p.Arg294=) c.*569C>A (n.*569C>A) c.1088C>A (n.1088C>A) c.958C>A (p.Arg320=) c.923-2578C>A (n.923-2578C>A) c.964C>A (p.Arg322=) c.1006C>A (p.Arg336=) c.547C>A (p.Arg183=) | |
5 | g.162149152C= | CA1596380243 | GABRG2 | c.968C= c.1087C= (p.Arg363=) n.858C= c.1050C= n.221C= c.682C= (p.Arg228=) c.967C= (p.Arg323=) c.844C= c.358C= (p.Arg120=) c.895C= (p.Arg299=) c.*167C= (n.*167C=) c.901C= (p.Arg301=) n.265C= n.3498C= c.405C= c.880C= (p.Arg294=) c.*569C= (n.*569C=) c.1088C= (n.1088C=) c.958C= (p.Arg320=) c.923-2578C= (n.923-2578C=) c.964C= (p.Arg322=) c.1006C= (p.Arg336=) c.547C= (p.Arg183=) | |
5 | g.162149152C>G | CA362182387 | GABRG2 | c.968C>G c.1087C>G (p.Arg363Gly) n.858C>G c.1050C>G n.221C>G c.682C>G (p.Arg228Gly) c.967C>G (p.Arg323Gly) c.844C>G c.358C>G (p.Arg120Gly) c.895C>G (p.Arg299Gly) c.*167C>G (n.*167C>G) c.901C>G (p.Arg301Gly) n.265C>G n.3498C>G c.405C>G c.880C>G (p.Arg294Gly) c.*569C>G (n.*569C>G) c.1088C>G (n.1088C>G) c.958C>G (p.Arg320Gly) c.923-2578C>G (n.923-2578C>G) c.964C>G (p.Arg322Gly) c.1006C>G (p.Arg336Gly) c.547C>G (p.Arg183Gly) | ClinVar dbSNP |
5 | g.162149152C>T | CA314732 | GABRG2 | c.968C>T c.1087C>T (p.Arg363Trp) n.858C>T c.1050C>T n.221C>T c.682C>T (p.Arg228Trp) c.967C>T (p.Arg323Trp) c.844C>T c.358C>T (p.Arg120Trp) c.895C>T (p.Arg299Trp) c.*167C>T (n.*167C>T) c.901C>T (p.Arg301Trp) n.265C>T n.3498C>T c.405C>T c.880C>T (p.Arg294Trp) c.*569C>T (n.*569C>T) c.1088C>T (n.1088C>T) c.958C>T (p.Arg320Trp) c.923-2578C>T (n.923-2578C>T) c.964C>T (p.Arg322Trp) c.1006C>T (p.Arg336Trp) c.547C>T (p.Arg183Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.162149153G>A | CA144631 | GABRG2 | c.969G>A c.1088G>A (p.Arg363Gln) n.859G>A c.1051G>A n.222G>A c.683G>A (p.Arg228Gln) c.968G>A (p.Arg323Gln) c.845G>A c.359G>A (p.Arg120Gln) c.896G>A (p.Arg299Gln) c.*168G>A (n.*168G>A) c.902G>A (p.Arg301Gln) n.266G>A n.3499G>A c.406G>A c.881G>A (p.Arg294Gln) c.*570G>A (n.*570G>A) c.1089G>A (n.1089G>A) c.959G>A (p.Arg320Gln) c.923-2577G>A (n.923-2577G>A) c.965G>A (p.Arg322Gln) c.1007G>A (p.Arg336Gln) c.548G>A (p.Arg183Gln) | ClinVar dbSNP gnomAD v2 COSMIC |
5 | g.162149153G>C | CA362182388 | GABRG2 | c.969G>C c.1088G>C (p.Arg363Pro) n.859G>C c.1051G>C n.222G>C c.683G>C (p.Arg228Pro) c.968G>C (p.Arg323Pro) c.845G>C c.359G>C (p.Arg120Pro) c.896G>C (p.Arg299Pro) c.*168G>C (n.*168G>C) c.902G>C (p.Arg301Pro) n.266G>C n.3499G>C c.406G>C c.881G>C (p.Arg294Pro) c.*570G>C (n.*570G>C) c.1089G>C (n.1089G>C) c.959G>C (p.Arg320Pro) c.923-2577G>C (n.923-2577G>C) c.965G>C (p.Arg322Pro) c.1007G>C (p.Arg336Pro) c.548G>C (p.Arg183Pro) | |
5 | g.162149153G= | CA1596380244 | GABRG2 | c.969G= c.1088G= (p.Arg363=) n.859G= c.1051G= n.222G= c.683G= (p.Arg228=) c.968G= (p.Arg323=) c.845G= c.359G= (p.Arg120=) c.896G= (p.Arg299=) c.*168G= (n.*168G=) c.902G= (p.Arg301=) n.266G= n.3499G= c.406G= c.881G= (p.Arg294=) c.*570G= (n.*570G=) c.1089G= (n.1089G=) c.959G= (p.Arg320=) c.923-2577G= (n.923-2577G=) c.965G= (p.Arg322=) c.1007G= (p.Arg336=) c.548G= (p.Arg183=) | |
5 | g.162149153G>T | CA362182389 | GABRG2 | c.969G>T c.1088G>T (p.Arg363Leu) n.859G>T c.1051G>T n.222G>T c.683G>T (p.Arg228Leu) c.968G>T (p.Arg323Leu) c.845G>T c.359G>T (p.Arg120Leu) c.896G>T (p.Arg299Leu) c.*168G>T (n.*168G>T) c.902G>T (p.Arg301Leu) n.266G>T n.3499G>T c.406G>T c.881G>T (p.Arg294Leu) c.*570G>T (n.*570G>T) c.1089G>T (n.1089G>T) c.959G>T (p.Arg320Leu) c.923-2577G>T (n.923-2577G>T) c.965G>T (p.Arg322Leu) c.1007G>T (p.Arg336Leu) c.548G>T (p.Arg183Leu) | |
5 | g.162149154G>A | CA447610259 | GABRG2 | c.970G>A c.1089G>A (p.Arg363=) n.860G>A c.1052G>A n.223G>A c.684G>A (p.Arg228=) c.969G>A (p.Arg323=) c.846G>A c.360G>A (p.Arg120=) c.897G>A (p.Arg299=) c.*169G>A (n.*169G>A) c.903G>A (p.Arg301=) n.267G>A n.3500G>A c.407G>A c.882G>A (p.Arg294=) c.*571G>A (n.*571G>A) c.1090G>A (n.1090G>A) c.960G>A (p.Arg320=) c.923-2576G>A (n.923-2576G>A) c.966G>A (p.Arg322=) c.1008G>A (p.Arg336=) c.549G>A (p.Arg183=) | |
5 | g.162149154G>C | CA447610257 | GABRG2 | c.970G>C c.1089G>C (p.Arg363=) n.860G>C c.1052G>C n.223G>C c.684G>C (p.Arg228=) c.969G>C (p.Arg323=) c.846G>C c.360G>C (p.Arg120=) c.897G>C (p.Arg299=) c.*169G>C (n.*169G>C) c.903G>C (p.Arg301=) n.267G>C n.3500G>C c.407G>C c.882G>C (p.Arg294=) c.*571G>C (n.*571G>C) c.1090G>C (n.1090G>C) c.960G>C (p.Arg320=) c.923-2576G>C (n.923-2576G>C) c.966G>C (p.Arg322=) c.1008G>C (p.Arg336=) c.549G>C (p.Arg183=) | |
5 | g.162149154G>T | CA447610258 | GABRG2 | c.970G>T c.1089G>T (p.Arg363=) n.860G>T c.1052G>T n.223G>T c.684G>T (p.Arg228=) c.969G>T (p.Arg323=) c.846G>T c.360G>T (p.Arg120=) c.897G>T (p.Arg299=) c.*169G>T (n.*169G>T) c.903G>T (p.Arg301=) n.267G>T n.3500G>T c.407G>T c.882G>T (p.Arg294=) c.*571G>T (n.*571G>T) c.1090G>T (n.1090G>T) c.960G>T (p.Arg320=) c.923-2576G>T (n.923-2576G>T) c.966G>T (p.Arg322=) c.1008G>T (p.Arg336=) c.549G>T (p.Arg183=) | |
5 | g.162149155A>C | CA362182390 | GABRG2 | c.971A>C c.1090A>C (p.Lys364Gln) n.861A>C c.1053A>C n.224A>C c.685A>C (p.Lys229Gln) c.970A>C (p.Lys324Gln) c.847A>C c.361A>C (p.Lys121Gln) c.898A>C (p.Lys300Gln) c.*170A>C (n.*170A>C) c.904A>C (p.Lys302Gln) n.268A>C n.3501A>C c.408A>C c.883A>C (p.Lys295Gln) c.*572A>C (n.*572A>C) c.1091A>C (n.1091A>C) c.961A>C (p.Lys321Gln) c.923-2575A>C (n.923-2575A>C) c.967A>C (p.Lys323Gln) c.1009A>C (p.Lys337Gln) c.550A>C (p.Lys184Gln) | |
5 | g.162149155A>G | CA362182391 | GABRG2 | c.971A>G c.1090A>G (p.Lys364Glu) n.861A>G c.1053A>G n.224A>G c.685A>G (p.Lys229Glu) c.970A>G (p.Lys324Glu) c.847A>G c.361A>G (p.Lys121Glu) c.898A>G (p.Lys300Glu) c.*170A>G (n.*170A>G) c.904A>G (p.Lys302Glu) n.268A>G n.3501A>G c.408A>G c.883A>G (p.Lys295Glu) c.*572A>G (n.*572A>G) c.1091A>G (n.1091A>G) c.961A>G (p.Lys321Glu) c.923-2575A>G (n.923-2575A>G) c.967A>G (p.Lys323Glu) c.1009A>G (p.Lys337Glu) c.550A>G (p.Lys184Glu) | |
5 | g.162149155A>T | CA362182392 | GABRG2 | c.971A>T c.1090A>T (p.Lys364Ter) n.861A>T c.1053A>T n.224A>T c.685A>T (p.Lys229Ter) c.970A>T (p.Lys324Ter) c.847A>T c.361A>T (p.Lys121Ter) c.898A>T (p.Lys300Ter) c.*170A>T (n.*170A>T) c.904A>T (p.Lys302Ter) n.268A>T n.3501A>T c.408A>T c.883A>T (p.Lys295Ter) c.*572A>T (n.*572A>T) c.1091A>T (n.1091A>T) c.961A>T (p.Lys321Ter) c.923-2575A>T (n.923-2575A>T) c.967A>T (p.Lys323Ter) c.1009A>T (p.Lys337Ter) c.550A>T (p.Lys184Ter) | |
5 | g.162149156A>C | CA362182393 | GABRG2 | c.972A>C c.1091A>C (p.Lys364Thr) n.862A>C c.1054A>C n.225A>C c.686A>C (p.Lys229Thr) c.971A>C (p.Lys324Thr) c.848A>C c.362A>C (p.Lys121Thr) c.899A>C (p.Lys300Thr) c.*171A>C (n.*171A>C) c.905A>C (p.Lys302Thr) n.269A>C n.3502A>C c.409A>C c.884A>C (p.Lys295Thr) c.*573A>C (n.*573A>C) c.1092A>C (n.1092A>C) c.962A>C (p.Lys321Thr) c.923-2574A>C (n.923-2574A>C) c.968A>C (p.Lys323Thr) c.1010A>C (p.Lys337Thr) c.551A>C (p.Lys184Thr) | |
5 | g.162149156A>G | CA362182394 | GABRG2 | c.972A>G c.1091A>G (p.Lys364Arg) n.862A>G c.1054A>G n.225A>G c.686A>G (p.Lys229Arg) c.971A>G (p.Lys324Arg) c.848A>G c.362A>G (p.Lys121Arg) c.899A>G (p.Lys300Arg) c.*171A>G (n.*171A>G) c.905A>G (p.Lys302Arg) n.269A>G n.3502A>G c.409A>G c.884A>G (p.Lys295Arg) c.*573A>G (n.*573A>G) c.1092A>G (n.1092A>G) c.962A>G (p.Lys321Arg) c.923-2574A>G (n.923-2574A>G) c.968A>G (p.Lys323Arg) c.1010A>G (p.Lys337Arg) c.551A>G (p.Lys184Arg) | |
5 | g.162149156A>T | CA362182395 | GABRG2 | c.972A>T c.1091A>T (p.Lys364Ile) n.862A>T c.1054A>T n.225A>T c.686A>T (p.Lys229Ile) c.971A>T (p.Lys324Ile) c.848A>T c.362A>T (p.Lys121Ile) c.899A>T (p.Lys300Ile) c.*171A>T (n.*171A>T) c.905A>T (p.Lys302Ile) n.269A>T n.3502A>T c.409A>T c.884A>T (p.Lys295Ile) c.*573A>T (n.*573A>T) c.1092A>T (n.1092A>T) c.962A>T (p.Lys321Ile) c.923-2574A>T (n.923-2574A>T) c.968A>T (p.Lys323Ile) c.1010A>T (p.Lys337Ile) c.551A>T (p.Lys184Ile) | |
5 | g.162149157A= | CA1596380245 | GABRG2 | c.973A= c.1092A= (p.Lys364=) n.863A= c.1055A= n.226A= c.687A= (p.Lys229=) c.972A= (p.Lys324=) c.849A= c.363A= (p.Lys121=) c.900A= (p.Lys300=) c.*172A= (n.*172A=) c.906A= (p.Lys302=) n.270A= n.3503A= c.410A= c.885A= (p.Lys295=) c.*574A= (n.*574A=) c.1093A= (n.1093A=) c.963A= (p.Lys321=) c.923-2573A= (n.923-2573A=) c.969A= (p.Lys323=) c.1011A= (p.Lys337=) c.552A= (p.Lys184=) | |
5 | g.162149157A>C | CA362182397 | GABRG2 | c.973A>C c.1092A>C (p.Lys364Asn) n.863A>C c.1055A>C n.226A>C c.687A>C (p.Lys229Asn) c.972A>C (p.Lys324Asn) c.849A>C c.363A>C (p.Lys121Asn) c.900A>C (p.Lys300Asn) c.*172A>C (n.*172A>C) c.906A>C (p.Lys302Asn) n.270A>C n.3503A>C c.410A>C c.885A>C (p.Lys295Asn) c.*574A>C (n.*574A>C) c.1093A>C (n.1093A>C) c.963A>C (p.Lys321Asn) c.923-2573A>C (n.923-2573A>C) c.969A>C (p.Lys323Asn) c.1011A>C (p.Lys337Asn) c.552A>C (p.Lys184Asn) | |
5 | g.162149157A>G | CA3544860 | GABRG2 | c.973A>G c.1092A>G (p.Lys364=) n.863A>G c.1055A>G n.226A>G c.687A>G (p.Lys229=) c.972A>G (p.Lys324=) c.849A>G c.363A>G (p.Lys121=) c.900A>G (p.Lys300=) c.*172A>G (n.*172A>G) c.906A>G (p.Lys302=) n.270A>G n.3503A>G c.410A>G c.885A>G (p.Lys295=) c.*574A>G (n.*574A>G) c.1093A>G (n.1093A>G) c.963A>G (p.Lys321=) c.923-2573A>G (n.923-2573A>G) c.969A>G (p.Lys323=) c.1011A>G (p.Lys337=) c.552A>G (p.Lys184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162149157A>T | CA362182396 | GABRG2 | c.973A>T c.1092A>T (p.Lys364Asn) n.863A>T c.1055A>T n.226A>T c.687A>T (p.Lys229Asn) c.972A>T (p.Lys324Asn) c.849A>T c.363A>T (p.Lys121Asn) c.900A>T (p.Lys300Asn) c.*172A>T (n.*172A>T) c.906A>T (p.Lys302Asn) n.270A>T n.3503A>T c.410A>T c.885A>T (p.Lys295Asn) c.*574A>T (n.*574A>T) c.1093A>T (n.1093A>T) c.963A>T (p.Lys321Asn) c.923-2573A>T (n.923-2573A>T) c.969A>T (p.Lys323Asn) c.1011A>T (p.Lys337Asn) c.552A>T (p.Lys184Asn) | |
5 | g.162149158T>A | CA362182398 | GABRG2 | c.974T>A c.1093T>A (p.Ser365Thr) n.864T>A c.1056T>A n.227T>A c.688T>A (p.Ser230Thr) c.973T>A (p.Ser325Thr) c.850T>A c.364T>A (p.Ser122Thr) c.901T>A (p.Ser301Thr) c.*173T>A (n.*173T>A) c.907T>A (p.Ser303Thr) n.271T>A n.3504T>A c.411T>A c.886T>A (p.Ser296Thr) c.*575T>A (n.*575T>A) c.1094T>A (n.1094T>A) c.964T>A (p.Ser322Thr) c.923-2572T>A (n.923-2572T>A) c.970T>A (p.Ser324Thr) c.1012T>A (p.Ser338Thr) c.553T>A (p.Ser185Thr) | |
5 | g.162149158T>C | CA362182399 | GABRG2 | c.974T>C c.1093T>C (p.Ser365Pro) n.864T>C c.1056T>C n.227T>C c.688T>C (p.Ser230Pro) c.973T>C (p.Ser325Pro) c.850T>C c.364T>C (p.Ser122Pro) c.901T>C (p.Ser301Pro) c.*173T>C (n.*173T>C) c.907T>C (p.Ser303Pro) n.271T>C n.3504T>C c.411T>C c.886T>C (p.Ser296Pro) c.*575T>C (n.*575T>C) c.1094T>C (n.1094T>C) c.964T>C (p.Ser322Pro) c.923-2572T>C (n.923-2572T>C) c.970T>C (p.Ser324Pro) c.1012T>C (p.Ser338Pro) c.553T>C (p.Ser185Pro) | |
5 | g.162149158T>G | CA362182400 | GABRG2 | c.974T>G c.1093T>G (p.Ser365Ala) n.864T>G c.1056T>G n.227T>G c.688T>G (p.Ser230Ala) c.973T>G (p.Ser325Ala) c.850T>G c.364T>G (p.Ser122Ala) c.901T>G (p.Ser301Ala) c.*173T>G (n.*173T>G) c.907T>G (p.Ser303Ala) n.271T>G n.3504T>G c.411T>G c.886T>G (p.Ser296Ala) c.*575T>G (n.*575T>G) c.1094T>G (n.1094T>G) c.964T>G (p.Ser322Ala) c.923-2572T>G (n.923-2572T>G) c.970T>G (p.Ser324Ala) c.1012T>G (p.Ser338Ala) c.553T>G (p.Ser185Ala) | |
5 | g.162149159C>A | CA362182401 | GABRG2 | c.975C>A c.1094C>A (p.Ser365Ter) n.865C>A c.1057C>A n.228C>A c.689C>A (p.Ser230Ter) c.974C>A (p.Ser325Ter) c.851C>A c.365C>A (p.Ser122Ter) c.902C>A (p.Ser301Ter) c.*174C>A (n.*174C>A) c.908C>A (p.Ser303Ter) n.272C>A n.3505C>A c.412C>A c.887C>A (p.Ser296Ter) c.*576C>A (n.*576C>A) c.1095C>A (n.1095C>A) c.965C>A (p.Ser322Ter) c.923-2571C>A (n.923-2571C>A) c.971C>A (p.Ser324Ter) c.1013C>A (p.Ser338Ter) c.554C>A (p.Ser185Ter) | |
5 | g.162149159C= | CA1596380246 | GABRG2 | c.975C= c.1094C= (p.Ser365=) n.865C= c.1057C= n.228C= c.689C= (p.Ser230=) c.974C= (p.Ser325=) c.851C= c.365C= (p.Ser122=) c.902C= (p.Ser301=) c.*174C= (n.*174C=) c.908C= (p.Ser303=) n.272C= n.3505C= c.412C= c.887C= (p.Ser296=) c.*576C= (n.*576C=) c.1095C= (n.1095C=) c.965C= (p.Ser322=) c.923-2571C= (n.923-2571C=) c.971C= (p.Ser324=) c.1013C= (p.Ser338=) c.554C= (p.Ser185=) | |
5 | g.162149159C>G | CA362182402 | GABRG2 | c.975C>G c.1094C>G (p.Ser365Trp) n.865C>G c.1057C>G n.228C>G c.689C>G (p.Ser230Trp) c.974C>G (p.Ser325Trp) c.851C>G c.365C>G (p.Ser122Trp) c.902C>G (p.Ser301Trp) c.*174C>G (n.*174C>G) c.908C>G (p.Ser303Trp) n.272C>G n.3505C>G c.412C>G c.887C>G (p.Ser296Trp) c.*576C>G (n.*576C>G) c.1095C>G (n.1095C>G) c.965C>G (p.Ser322Trp) c.923-2571C>G (n.923-2571C>G) c.971C>G (p.Ser324Trp) c.1013C>G (p.Ser338Trp) c.554C>G (p.Ser185Trp) | |
5 | g.162149159C>T | CA362182403 | GABRG2 | c.975C>T c.1094C>T (p.Ser365Leu) n.865C>T c.1057C>T n.228C>T c.689C>T (p.Ser230Leu) c.974C>T (p.Ser325Leu) c.851C>T c.365C>T (p.Ser122Leu) c.902C>T (p.Ser301Leu) c.*174C>T (n.*174C>T) c.908C>T (p.Ser303Leu) n.272C>T n.3505C>T c.412C>T c.887C>T (p.Ser296Leu) c.*576C>T (n.*576C>T) c.1095C>T (n.1095C>T) c.965C>T (p.Ser322Leu) c.923-2571C>T (n.923-2571C>T) c.971C>T (p.Ser324Leu) c.1013C>T (p.Ser338Leu) c.554C>T (p.Ser185Leu) | ClinVar dbSNP COSMIC |
5 | g.162149160G>A | CA3544861 | GABRG2 | c.976G>A c.1095G>A (p.Ser365=) n.866G>A c.1058G>A n.229G>A c.690G>A (p.Ser230=) c.975G>A (p.Ser325=) c.852G>A c.366G>A (p.Ser122=) c.903G>A (p.Ser301=) c.*175G>A (n.*175G>A) c.909G>A (p.Ser303=) n.273G>A n.3506G>A c.413G>A c.888G>A (p.Ser296=) c.*577G>A (n.*577G>A) c.1096G>A (n.1096G>A) c.966G>A (p.Ser322=) c.923-2570G>A (n.923-2570G>A) c.972G>A (p.Ser324=) c.1014G>A (p.Ser338=) c.555G>A (p.Ser185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162149160G>C | CA447610260 | GABRG2 | c.976G>C c.1095G>C (p.Ser365=) n.866G>C c.1058G>C n.229G>C c.690G>C (p.Ser230=) c.975G>C (p.Ser325=) c.852G>C c.366G>C (p.Ser122=) c.903G>C (p.Ser301=) c.*175G>C (n.*175G>C) c.909G>C (p.Ser303=) n.273G>C n.3506G>C c.413G>C c.888G>C (p.Ser296=) c.*577G>C (n.*577G>C) c.1096G>C (n.1096G>C) c.966G>C (p.Ser322=) c.923-2570G>C (n.923-2570G>C) c.972G>C (p.Ser324=) c.1014G>C (p.Ser338=) c.555G>C (p.Ser185=) | |
5 | g.162149160G= | CA1596380247 | GABRG2 | c.976G= c.1095G= (p.Ser365=) n.866G= c.1058G= n.229G= c.690G= (p.Ser230=) c.975G= (p.Ser325=) c.852G= c.366G= (p.Ser122=) c.903G= (p.Ser301=) c.*175G= (n.*175G=) c.909G= (p.Ser303=) n.273G= n.3506G= c.413G= c.888G= (p.Ser296=) c.*577G= (n.*577G=) c.1096G= (n.1096G=) c.966G= (p.Ser322=) c.923-2570G= (n.923-2570G=) c.972G= (p.Ser324=) c.1014G= (p.Ser338=) c.555G= (p.Ser185=) | |
5 | g.162149160G>T | CA447610261 | GABRG2 | c.976G>T c.1095G>T (p.Ser365=) n.866G>T c.1058G>T n.229G>T c.690G>T (p.Ser230=) c.975G>T (p.Ser325=) c.852G>T c.366G>T (p.Ser122=) c.903G>T (p.Ser301=) c.*175G>T (n.*175G>T) c.909G>T (p.Ser303=) n.273G>T n.3506G>T c.413G>T c.888G>T (p.Ser296=) c.*577G>T (n.*577G>T) c.1096G>T (n.1096G>T) c.966G>T (p.Ser322=) c.923-2570G>T (n.923-2570G>T) c.972G>T (p.Ser324=) c.1014G>T (p.Ser338=) c.555G>T (p.Ser185=) | |
5 | g.162149161C>A | CA362182404 | GABRG2 | c.977C>A c.1096C>A (p.Leu366Ile) n.867C>A c.1059C>A n.230C>A c.691C>A (p.Leu231Ile) c.976C>A (p.Leu326Ile) c.853C>A c.367C>A (p.Leu123Ile) c.904C>A (p.Leu302Ile) c.*176C>A (n.*176C>A) c.910C>A (p.Leu304Ile) n.274C>A n.3507C>A c.414C>A c.889C>A (p.Leu297Ile) c.*578C>A (n.*578C>A) c.1097C>A (n.1097C>A) c.967C>A (p.Leu323Ile) c.923-2569C>A (n.923-2569C>A) c.973C>A (p.Leu325Ile) c.1015C>A (p.Leu339Ile) c.556C>A (p.Leu186Ile) | |
5 | g.162149161C>G | CA362182406 | GABRG2 | c.977C>G c.1096C>G (p.Leu366Val) n.867C>G c.1059C>G n.230C>G c.691C>G (p.Leu231Val) c.976C>G (p.Leu326Val) c.853C>G c.367C>G (p.Leu123Val) c.904C>G (p.Leu302Val) c.*176C>G (n.*176C>G) c.910C>G (p.Leu304Val) n.274C>G n.3507C>G c.414C>G c.889C>G (p.Leu297Val) c.*578C>G (n.*578C>G) c.1097C>G (n.1097C>G) c.967C>G (p.Leu323Val) c.923-2569C>G (n.923-2569C>G) c.973C>G (p.Leu325Val) c.1015C>G (p.Leu339Val) c.556C>G (p.Leu186Val) | |
5 | g.162149161C>T | CA362182405 | GABRG2 | c.977C>T c.1096C>T (p.Leu366Phe) n.867C>T c.1059C>T n.230C>T c.691C>T (p.Leu231Phe) c.976C>T (p.Leu326Phe) c.853C>T c.367C>T (p.Leu123Phe) c.904C>T (p.Leu302Phe) c.*176C>T (n.*176C>T) c.910C>T (p.Leu304Phe) n.274C>T n.3507C>T c.414C>T c.889C>T (p.Leu297Phe) c.*578C>T (n.*578C>T) c.1097C>T (n.1097C>T) c.967C>T (p.Leu323Phe) c.923-2569C>T (n.923-2569C>T) c.973C>T (p.Leu325Phe) c.1015C>T (p.Leu339Phe) c.556C>T (p.Leu186Phe) | |
5 | g.162149162T>A | CA362182407 | GABRG2 | c.978T>A c.1097T>A (p.Leu366His) n.868T>A c.1060T>A n.231T>A c.692T>A (p.Leu231His) c.977T>A (p.Leu326His) c.854T>A c.368T>A (p.Leu123His) c.905T>A (p.Leu302His) c.*177T>A (n.*177T>A) c.911T>A (p.Leu304His) n.275T>A n.3508T>A c.415T>A c.890T>A (p.Leu297His) c.*579T>A (n.*579T>A) c.1098T>A (n.1098T>A) c.968T>A (p.Leu323His) c.923-2568T>A (n.923-2568T>A) c.974T>A (p.Leu325His) c.1016T>A (p.Leu339His) c.557T>A (p.Leu186His) | |
5 | g.162149162T>C | CA362182408 | GABRG2 | c.978T>C c.1097T>C (p.Leu366Pro) n.868T>C c.1060T>C n.231T>C c.692T>C (p.Leu231Pro) c.977T>C (p.Leu326Pro) c.854T>C c.368T>C (p.Leu123Pro) c.905T>C (p.Leu302Pro) c.*177T>C (n.*177T>C) c.911T>C (p.Leu304Pro) n.275T>C n.3508T>C c.415T>C c.890T>C (p.Leu297Pro) c.*579T>C (n.*579T>C) c.1098T>C (n.1098T>C) c.968T>C (p.Leu323Pro) c.923-2568T>C (n.923-2568T>C) c.974T>C (p.Leu325Pro) c.1016T>C (p.Leu339Pro) c.557T>C (p.Leu186Pro) | |
5 | g.162149162T>G | CA362182409 | GABRG2 | c.978T>G c.1097T>G (p.Leu366Arg) n.868T>G c.1060T>G n.231T>G c.692T>G (p.Leu231Arg) c.977T>G (p.Leu326Arg) c.854T>G c.368T>G (p.Leu123Arg) c.905T>G (p.Leu302Arg) c.*177T>G (n.*177T>G) c.911T>G (p.Leu304Arg) n.275T>G n.3508T>G c.415T>G c.890T>G (p.Leu297Arg) c.*579T>G (n.*579T>G) c.1098T>G (n.1098T>G) c.968T>G (p.Leu323Arg) c.923-2568T>G (n.923-2568T>G) c.974T>G (p.Leu325Arg) c.1016T>G (p.Leu339Arg) c.557T>G (p.Leu186Arg) | |
5 | g.162149163C>A | CA447610262 | GABRG2 | c.979C>A c.1098C>A (p.Leu366=) n.869C>A c.1061C>A n.232C>A c.693C>A (p.Leu231=) c.978C>A (p.Leu326=) c.855C>A c.369C>A (p.Leu123=) c.906C>A (p.Leu302=) c.*178C>A (n.*178C>A) c.912C>A (p.Leu304=) n.276C>A n.3509C>A c.416C>A c.891C>A (p.Leu297=) c.*580C>A (n.*580C>A) c.1099C>A (n.1099C>A) c.969C>A (p.Leu323=) c.923-2567C>A (n.923-2567C>A) c.975C>A (p.Leu325=) c.1017C>A (p.Leu339=) c.558C>A (p.Leu186=) | |
5 | g.162149163C= | CA1596380248 | GABRG2 | c.979C= c.1098C= (p.Leu366=) n.869C= c.1061C= n.232C= c.693C= (p.Leu231=) c.978C= (p.Leu326=) c.855C= c.369C= (p.Leu123=) c.906C= (p.Leu302=) c.*178C= (n.*178C=) c.912C= (p.Leu304=) n.276C= n.3509C= c.416C= c.891C= (p.Leu297=) c.*580C= (n.*580C=) c.1099C= (n.1099C=) c.969C= (p.Leu323=) c.923-2567C= (n.923-2567C=) c.975C= (p.Leu325=) c.1017C= (p.Leu339=) c.558C= (p.Leu186=) | |
5 | g.162149163C>G | CA447610263 | GABRG2 | c.979C>G c.1098C>G (p.Leu366=) n.869C>G c.1061C>G n.232C>G c.693C>G (p.Leu231=) c.978C>G (p.Leu326=) c.855C>G c.369C>G (p.Leu123=) c.906C>G (p.Leu302=) c.*178C>G (n.*178C>G) c.912C>G (p.Leu304=) n.276C>G n.3509C>G c.416C>G c.891C>G (p.Leu297=) c.*580C>G (n.*580C>G) c.1099C>G (n.1099C>G) c.969C>G (p.Leu323=) c.923-2567C>G (n.923-2567C>G) c.975C>G (p.Leu325=) c.1017C>G (p.Leu339=) c.558C>G (p.Leu186=) | |
5 | g.162149163C>T | CA3544862 | GABRG2 | c.979C>T c.1098C>T (p.Leu366=) n.869C>T c.1061C>T n.232C>T c.693C>T (p.Leu231=) c.978C>T (p.Leu326=) c.855C>T c.369C>T (p.Leu123=) c.906C>T (p.Leu302=) c.*178C>T (n.*178C>T) c.912C>T (p.Leu304=) n.276C>T n.3509C>T c.416C>T c.891C>T (p.Leu297=) c.*580C>T (n.*580C>T) c.1099C>T (n.1099C>T) c.969C>T (p.Leu323=) c.923-2567C>T (n.923-2567C>T) c.975C>T (p.Leu325=) c.1017C>T (p.Leu339=) c.558C>T (p.Leu186=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.162149164C>A | CA362182410 | GABRG2 | c.980C>A c.1099C>A (p.Pro367Thr) n.870C>A c.1062C>A n.233C>A c.694C>A (p.Pro232Thr) c.979C>A (p.Pro327Thr) c.856C>A c.370C>A (p.Pro124Thr) c.907C>A (p.Pro303Thr) c.*179C>A (n.*179C>A) c.913C>A (p.Pro305Thr) n.277C>A n.3510C>A c.417C>A c.892C>A (p.Pro298Thr) c.*581C>A (n.*581C>A) c.1100C>A (n.1100C>A) c.970C>A (p.Pro324Thr) c.923-2566C>A (n.923-2566C>A) c.976C>A (p.Pro326Thr) c.1018C>A (p.Pro340Thr) c.559C>A (p.Pro187Thr) | |
5 | g.162149164C>G | CA362182412 | GABRG2 | c.980C>G c.1099C>G (p.Pro367Ala) n.870C>G c.1062C>G n.233C>G c.694C>G (p.Pro232Ala) c.979C>G (p.Pro327Ala) c.856C>G c.370C>G (p.Pro124Ala) c.907C>G (p.Pro303Ala) c.*179C>G (n.*179C>G) c.913C>G (p.Pro305Ala) n.277C>G n.3510C>G c.417C>G c.892C>G (p.Pro298Ala) c.*581C>G (n.*581C>G) c.1100C>G (n.1100C>G) c.970C>G (p.Pro324Ala) c.923-2566C>G (n.923-2566C>G) c.976C>G (p.Pro326Ala) c.1018C>G (p.Pro340Ala) c.559C>G (p.Pro187Ala) | |
5 | g.162149164C>T | CA362182411 | GABRG2 | c.980C>T c.1099C>T (p.Pro367Ser) n.870C>T c.1062C>T n.233C>T c.694C>T (p.Pro232Ser) c.979C>T (p.Pro327Ser) c.856C>T c.370C>T (p.Pro124Ser) c.907C>T (p.Pro303Ser) c.*179C>T (n.*179C>T) c.913C>T (p.Pro305Ser) n.277C>T n.3510C>T c.417C>T c.892C>T (p.Pro298Ser) c.*581C>T (n.*581C>T) c.1100C>T (n.1100C>T) c.970C>T (p.Pro324Ser) c.923-2566C>T (n.923-2566C>T) c.976C>T (p.Pro326Ser) c.1018C>T (p.Pro340Ser) c.559C>T (p.Pro187Ser) | |
5 | g.162149165C>A | CA362182413 | GABRG2 | c.981C>A c.1100C>A (p.Pro367His) n.871C>A c.1063C>A n.234C>A c.695C>A (p.Pro232His) c.980C>A (p.Pro327His) c.857C>A c.371C>A (p.Pro124His) c.908C>A (p.Pro303His) c.*180C>A (n.*180C>A) c.914C>A (p.Pro305His) n.278C>A n.3511C>A c.418C>A c.893C>A (p.Pro298His) c.*582C>A (n.*582C>A) c.1101C>A (n.1101C>A) c.971C>A (p.Pro324His) c.923-2565C>A (n.923-2565C>A) c.977C>A (p.Pro326His) c.1019C>A (p.Pro340His) c.560C>A (p.Pro187His) | |
5 | g.162149165C>G | CA362182414 | GABRG2 | c.981C>G c.1100C>G (p.Pro367Arg) n.871C>G c.1063C>G n.234C>G c.695C>G (p.Pro232Arg) c.980C>G (p.Pro327Arg) c.857C>G c.371C>G (p.Pro124Arg) c.908C>G (p.Pro303Arg) c.*180C>G (n.*180C>G) c.914C>G (p.Pro305Arg) n.278C>G n.3511C>G c.418C>G c.893C>G (p.Pro298Arg) c.*582C>G (n.*582C>G) c.1101C>G (n.1101C>G) c.971C>G (p.Pro324Arg) c.923-2565C>G (n.923-2565C>G) c.977C>G (p.Pro326Arg) c.1019C>G (p.Pro340Arg) c.560C>G (p.Pro187Arg) | |
5 | g.162149165C>T | CA362182415 | GABRG2 | c.981C>T c.1100C>T (p.Pro367Leu) n.871C>T c.1063C>T n.234C>T c.695C>T (p.Pro232Leu) c.980C>T (p.Pro327Leu) c.857C>T c.371C>T (p.Pro124Leu) c.908C>T (p.Pro303Leu) c.*180C>T (n.*180C>T) c.914C>T (p.Pro305Leu) n.278C>T n.3511C>T c.418C>T c.893C>T (p.Pro298Leu) c.*582C>T (n.*582C>T) c.1101C>T (n.1101C>T) c.971C>T (p.Pro324Leu) c.923-2565C>T (n.923-2565C>T) c.977C>T (p.Pro326Leu) c.1019C>T (p.Pro340Leu) c.560C>T (p.Pro187Leu) | |
5 | g.162149166C>A | CA447610264 | GABRG2 | c.982C>A c.1101C>A (p.Pro367=) n.872C>A c.1064C>A n.235C>A c.696C>A (p.Pro232=) c.981C>A (p.Pro327=) c.858C>A c.372C>A (p.Pro124=) c.909C>A (p.Pro303=) c.*181C>A (n.*181C>A) c.915C>A (p.Pro305=) n.279C>A n.3512C>A c.419C>A c.894C>A (p.Pro298=) c.*583C>A (n.*583C>A) c.1102C>A (n.1102C>A) c.972C>A (p.Pro324=) c.923-2564C>A (n.923-2564C>A) c.978C>A (p.Pro326=) c.1020C>A (p.Pro340=) c.561C>A (p.Pro187=) | |
5 | g.162149166C= | CA1596380249 | GABRG2 | c.982C= c.1101C= (p.Pro367=) n.872C= c.1064C= n.235C= c.696C= (p.Pro232=) c.981C= (p.Pro327=) c.858C= c.372C= (p.Pro124=) c.909C= (p.Pro303=) c.*181C= (n.*181C=) c.915C= (p.Pro305=) n.279C= n.3512C= c.419C= c.894C= (p.Pro298=) c.*583C= (n.*583C=) c.1102C= (n.1102C=) c.972C= (p.Pro324=) c.923-2564C= (n.923-2564C=) c.978C= (p.Pro326=) c.1020C= (p.Pro340=) c.561C= (p.Pro187=) | |
5 | g.162149166C>G | CA447610265 | GABRG2 | c.982C>G c.1101C>G (p.Pro367=) n.872C>G c.1064C>G n.235C>G c.696C>G (p.Pro232=) c.981C>G (p.Pro327=) c.858C>G c.372C>G (p.Pro124=) c.909C>G (p.Pro303=) c.*181C>G (n.*181C>G) c.915C>G (p.Pro305=) n.279C>G n.3512C>G c.419C>G c.894C>G (p.Pro298=) c.*583C>G (n.*583C>G) c.1102C>G (n.1102C>G) c.972C>G (p.Pro324=) c.923-2564C>G (n.923-2564C>G) c.978C>G (p.Pro326=) c.1020C>G (p.Pro340=) c.561C>G (p.Pro187=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.162149166C>T | CA447610266 | GABRG2 | c.982C>T c.1101C>T (p.Pro367=) n.872C>T c.1064C>T n.235C>T c.696C>T (p.Pro232=) c.981C>T (p.Pro327=) c.858C>T c.372C>T (p.Pro124=) c.909C>T (p.Pro303=) c.*181C>T (n.*181C>T) c.915C>T (p.Pro305=) n.279C>T n.3512C>T c.419C>T c.894C>T (p.Pro298=) c.*583C>T (n.*583C>T) c.1102C>T (n.1102C>T) c.972C>T (p.Pro324=) c.923-2564C>T (n.923-2564C>T) c.978C>T (p.Pro326=) c.1020C>T (p.Pro340=) c.561C>T (p.Pro187=) | |
5 | g.162149167A>C | CA362182416 | GABRG2 | c.983A>C c.1102A>C (p.Lys368Gln) c.1065A>C n.236A>C c.697A>C (p.Lys233Gln) c.982A>C (p.Lys328Gln) c.859A>C c.373A>C (p.Lys125Gln) c.910A>C (p.Lys304Gln) c.*182A>C (n.*182A>C) c.916A>C (p.Lys306Gln) n.280A>C n.3513A>C c.420A>C c.895A>C (p.Lys299Gln) c.*584A>C (n.*584A>C) c.1103A>C (n.1103A>C) c.973A>C (p.Lys325Gln) c.923-2563A>C (n.923-2563A>C) c.979A>C (p.Lys327Gln) c.1021A>C (p.Lys341Gln) c.562A>C (p.Lys188Gln) | |
5 | g.162149167A>G | CA362182417 | GABRG2 | c.983A>G c.1102A>G (p.Lys368Glu) c.1065A>G n.236A>G c.697A>G (p.Lys233Glu) c.982A>G (p.Lys328Glu) c.859A>G c.373A>G (p.Lys125Glu) c.910A>G (p.Lys304Glu) c.*182A>G (n.*182A>G) c.916A>G (p.Lys306Glu) n.280A>G n.3513A>G c.420A>G c.895A>G (p.Lys299Glu) c.*584A>G (n.*584A>G) c.1103A>G (n.1103A>G) c.973A>G (p.Lys325Glu) c.923-2563A>G (n.923-2563A>G) c.979A>G (p.Lys327Glu) c.1021A>G (p.Lys341Glu) c.562A>G (p.Lys188Glu) | |
5 | g.162149167A>T | CA362182418 | GABRG2 | c.983A>T c.1102A>T (p.Lys368Ter) c.1065A>T n.236A>T c.697A>T (p.Lys233Ter) c.982A>T (p.Lys328Ter) c.859A>T c.373A>T (p.Lys125Ter) c.910A>T (p.Lys304Ter) c.*182A>T (n.*182A>T) c.916A>T (p.Lys306Ter) n.280A>T n.3513A>T c.420A>T c.895A>T (p.Lys299Ter) c.*584A>T (n.*584A>T) c.1103A>T (n.1103A>T) c.973A>T (p.Lys325Ter) c.923-2563A>T (n.923-2563A>T) c.979A>T (p.Lys327Ter) c.1021A>T (p.Lys341Ter) c.562A>T (p.Lys188Ter) | |
5 | g.162149168A= | CA1596380250 | GABRG2 | c.984A= c.1103A= (p.Lys368=) c.1066A= n.237A= c.698A= (p.Lys233=) c.983A= (p.Lys328=) c.860A= c.374A= (p.Lys125=) c.911A= (p.Lys304=) c.*183A= (n.*183A=) c.917A= (p.Lys306=) n.281A= n.3514A= c.421A= c.896A= (p.Lys299=) c.*585A= (n.*585A=) c.1104A= (n.1104A=) c.974A= (p.Lys325=) c.923-2562A= (n.923-2562A=) c.980A= (p.Lys327=) c.1022A= (p.Lys341=) c.563A= (p.Lys188=) | |
5 | g.162149168A>C | CA362182419 | GABRG2 | c.984A>C c.1103A>C (p.Lys368Thr) c.1066A>C n.237A>C c.698A>C (p.Lys233Thr) c.983A>C (p.Lys328Thr) c.860A>C c.374A>C (p.Lys125Thr) c.911A>C (p.Lys304Thr) c.*183A>C (n.*183A>C) c.917A>C (p.Lys306Thr) n.281A>C n.3514A>C c.421A>C c.896A>C (p.Lys299Thr) c.*585A>C (n.*585A>C) c.1104A>C (n.1104A>C) c.974A>C (p.Lys325Thr) c.923-2562A>C (n.923-2562A>C) c.980A>C (p.Lys327Thr) c.1022A>C (p.Lys341Thr) c.563A>C (p.Lys188Thr) | |
5 | g.162149168A>G | CA362182420 | GABRG2 | c.984A>G c.1103A>G (p.Lys368Arg) c.1066A>G n.237A>G c.698A>G (p.Lys233Arg) c.983A>G (p.Lys328Arg) c.860A>G c.374A>G (p.Lys125Arg) c.911A>G (p.Lys304Arg) c.*183A>G (n.*183A>G) c.917A>G (p.Lys306Arg) n.281A>G n.3514A>G c.421A>G c.896A>G (p.Lys299Arg) c.*585A>G (n.*585A>G) c.1104A>G (n.1104A>G) c.974A>G (p.Lys325Arg) c.923-2562A>G (n.923-2562A>G) c.980A>G (p.Lys327Arg) c.1022A>G (p.Lys341Arg) c.563A>G (p.Lys188Arg) | |
5 | g.162149168A>T | CA126265 | GABRG2 | c.984A>T c.1103A>T (p.Lys368Met) c.1066A>T n.237A>T c.698A>T (p.Lys233Met) c.983A>T (p.Lys328Met) c.860A>T c.374A>T (p.Lys125Met) c.911A>T (p.Lys304Met) c.*183A>T (n.*183A>T) c.917A>T (p.Lys306Met) n.281A>T n.3514A>T c.421A>T c.896A>T (p.Lys299Met) c.*585A>T (n.*585A>T) c.1104A>T (n.1104A>T) c.974A>T (p.Lys325Met) c.923-2562A>T (n.923-2562A>T) c.980A>T (p.Lys327Met) c.1022A>T (p.Lys341Met) c.563A>T (p.Lys188Met) | ClinVar dbSNP |
5 | g.162149169G>A | CA447610267 | GABRG2 | c.985G>A c.1104G>A (p.Lys368=) c.1067G>A n.238G>A c.699G>A (p.Lys233=) c.984G>A (p.Lys328=) c.861G>A c.375G>A (p.Lys125=) c.912G>A (p.Lys304=) c.*184G>A (n.*184G>A) c.918G>A (p.Lys306=) n.282G>A n.3515G>A c.422G>A c.897G>A (p.Lys299=) c.*586G>A (n.*586G>A) c.1105G>A (n.1105G>A) c.975G>A (p.Lys325=) c.923-2561G>A (n.923-2561G>A) c.981G>A (p.Lys327=) c.1023G>A (p.Lys341=) c.564G>A (p.Lys188=) | COSMIC |
5 | g.162149169G>C | CA362182421 | GABRG2 | c.985G>C c.1104G>C (p.Lys368Asn) c.1067G>C n.238G>C c.699G>C (p.Lys233Asn) c.984G>C (p.Lys328Asn) c.861G>C c.375G>C (p.Lys125Asn) c.912G>C (p.Lys304Asn) c.*184G>C (n.*184G>C) c.918G>C (p.Lys306Asn) n.282G>C n.3515G>C c.422G>C c.897G>C (p.Lys299Asn) c.*586G>C (n.*586G>C) c.1105G>C (n.1105G>C) c.975G>C (p.Lys325Asn) c.923-2561G>C (n.923-2561G>C) c.981G>C (p.Lys327Asn) c.1023G>C (p.Lys341Asn) c.564G>C (p.Lys188Asn) | ClinVar |
5 | g.162149169G>T | CA362182422 | GABRG2 | c.985G>T c.1104G>T (p.Lys368Asn) c.1067G>T n.238G>T c.699G>T (p.Lys233Asn) c.984G>T (p.Lys328Asn) c.861G>T c.375G>T (p.Lys125Asn) c.912G>T (p.Lys304Asn) c.*184G>T (n.*184G>T) c.918G>T (p.Lys306Asn) n.282G>T n.3515G>T c.422G>T c.897G>T (p.Lys299Asn) c.*586G>T (n.*586G>T) c.1105G>T (n.1105G>T) c.975G>T (p.Lys325Asn) c.923-2561G>T (n.923-2561G>T) c.981G>T (p.Lys327Asn) c.1023G>T (p.Lys341Asn) c.564G>T (p.Lys188Asn) | COSMIC |
5 | g.162149170G>A | CA362182424 | GABRG2 | c.986G>A c.1105G>A (p.Val369Ile) c.1068G>A n.239G>A c.700G>A (p.Val234Ile) c.985G>A (p.Val329Ile) c.862G>A c.376G>A (p.Val126Ile) c.913G>A (p.Val305Ile) c.*185G>A (n.*185G>A) c.919G>A (p.Val307Ile) n.283G>A n.3516G>A c.423G>A c.898G>A (p.Val300Ile) c.*587G>A (n.*587G>A) c.1106G>A (n.1106G>A) c.976G>A (p.Val326Ile) c.923-2560G>A (n.923-2560G>A) c.982G>A (p.Val328Ile) c.1024G>A (p.Val342Ile) c.565G>A (p.Val189Ile) | gnomAD v4 |
5 | g.162149170G>C | CA362182423 | GABRG2 | c.986G>C c.1105G>C (p.Val369Leu) c.1068G>C n.239G>C c.700G>C (p.Val234Leu) c.985G>C (p.Val329Leu) c.862G>C c.376G>C (p.Val126Leu) c.913G>C (p.Val305Leu) c.*185G>C (n.*185G>C) c.919G>C (p.Val307Leu) n.283G>C n.3516G>C c.423G>C c.898G>C (p.Val300Leu) c.*587G>C (n.*587G>C) c.1106G>C (n.1106G>C) c.976G>C (p.Val326Leu) c.923-2560G>C (n.923-2560G>C) c.982G>C (p.Val328Leu) c.1024G>C (p.Val342Leu) c.565G>C (p.Val189Leu) | gnomAD v4 |
5 | g.162149170G= | CA1596380251 | GABRG2 | c.986G= c.1105G= (p.Val369=) c.1068G= n.239G= c.700G= (p.Val234=) c.985G= (p.Val329=) c.862G= c.376G= (p.Val126=) c.913G= (p.Val305=) c.*185G= (n.*185G=) c.919G= (p.Val307=) n.283G= n.3516G= c.423G= c.898G= (p.Val300=) c.*587G= (n.*587G=) c.1106G= (n.1106G=) c.976G= (p.Val326=) c.923-2560G= (n.923-2560G=) c.982G= (p.Val328=) c.1024G= (p.Val342=) c.565G= (p.Val189=) | |
5 | g.162149170G>T | CA314735 | GABRG2 | c.986G>T c.1105G>T (p.Val369Phe) c.1068G>T n.239G>T c.700G>T (p.Val234Phe) c.985G>T (p.Val329Phe) c.862G>T c.376G>T (p.Val126Phe) c.913G>T (p.Val305Phe) c.*185G>T (n.*185G>T) c.919G>T (p.Val307Phe) n.283G>T n.3516G>T c.423G>T c.898G>T (p.Val300Phe) c.*587G>T (n.*587G>T) c.1106G>T (n.1106G>T) c.976G>T (p.Val326Phe) c.923-2560G>T (n.923-2560G>T) c.982G>T (p.Val328Phe) c.1024G>T (p.Val342Phe) c.565G>T (p.Val189Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.162149171T>A | CA362182425 | GABRG2 | c.987T>A c.1106T>A (p.Val369Asp) c.1069T>A n.240T>A c.701T>A (p.Val234Asp) c.986T>A (p.Val329Asp) c.863T>A c.377T>A (p.Val126Asp) c.914T>A (p.Val305Asp) c.*186T>A (n.*186T>A) c.920T>A (p.Val307Asp) n.284T>A n.3517T>A c.424T>A c.899T>A (p.Val300Asp) c.*588T>A (n.*588T>A) c.1107T>A (n.1107T>A) c.977T>A (p.Val326Asp) c.923-2559T>A (n.923-2559T>A) c.983T>A (p.Val328Asp) c.1025T>A (p.Val342Asp) c.566T>A (p.Val189Asp) | |
5 | g.162149171T>C | CA362182427 | GABRG2 | c.987T>C c.1106T>C (p.Val369Ala) c.1069T>C n.240T>C c.701T>C (p.Val234Ala) c.986T>C (p.Val329Ala) c.863T>C c.377T>C (p.Val126Ala) c.914T>C (p.Val305Ala) c.*186T>C (n.*186T>C) c.920T>C (p.Val307Ala) n.284T>C n.3517T>C c.424T>C c.899T>C (p.Val300Ala) c.*588T>C (n.*588T>C) c.1107T>C (n.1107T>C) c.977T>C (p.Val326Ala) c.923-2559T>C (n.923-2559T>C) c.983T>C (p.Val328Ala) c.1025T>C (p.Val342Ala) c.566T>C (p.Val189Ala) | |
5 | g.162149171T>G | CA362182426 | GABRG2 | c.987T>G c.1106T>G (p.Val369Gly) c.1069T>G n.240T>G c.701T>G (p.Val234Gly) c.986T>G (p.Val329Gly) c.863T>G c.377T>G (p.Val126Gly) c.914T>G (p.Val305Gly) c.*186T>G (n.*186T>G) c.920T>G (p.Val307Gly) n.284T>G n.3517T>G c.424T>G c.899T>G (p.Val300Gly) c.*588T>G (n.*588T>G) c.1107T>G (n.1107T>G) c.977T>G (p.Val326Gly) c.923-2559T>G (n.923-2559T>G) c.983T>G (p.Val328Gly) c.1025T>G (p.Val342Gly) c.566T>G (p.Val189Gly) | |
5 | g.162149172C>A | CA3544863 | GABRG2 | c.988C>A c.1107C>A (p.Val369=) c.1070C>A n.241C>A c.702C>A (p.Val234=) c.987C>A (p.Val329=) c.864C>A c.378C>A (p.Val126=) c.915C>A (p.Val305=) c.*187C>A (n.*187C>A) c.921C>A (p.Val307=) n.285C>A n.3518C>A c.425C>A c.900C>A (p.Val300=) c.*589C>A (n.*589C>A) c.1108C>A (n.1108C>A) c.978C>A (p.Val326=) c.923-2558C>A (n.923-2558C>A) c.984C>A (p.Val328=) c.1026C>A (p.Val342=) c.567C>A (p.Val189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162149172C= | CA1596380252 | GABRG2 | c.988C= c.1107C= (p.Val369=) c.1070C= n.241C= c.702C= (p.Val234=) c.987C= (p.Val329=) c.864C= c.378C= (p.Val126=) c.915C= (p.Val305=) c.*187C= (n.*187C=) c.921C= (p.Val307=) n.285C= n.3518C= c.425C= c.900C= (p.Val300=) c.*589C= (n.*589C=) c.1108C= (n.1108C=) c.978C= (p.Val326=) c.923-2558C= (n.923-2558C=) c.984C= (p.Val328=) c.1026C= (p.Val342=) c.567C= (p.Val189=) | |
5 | g.162149172C>G | CA447610268 | GABRG2 | c.988C>G c.1107C>G (p.Val369=) c.1070C>G n.241C>G c.702C>G (p.Val234=) c.987C>G (p.Val329=) c.864C>G c.378C>G (p.Val126=) c.915C>G (p.Val305=) c.*187C>G (n.*187C>G) c.921C>G (p.Val307=) n.285C>G n.3518C>G c.425C>G c.900C>G (p.Val300=) c.*589C>G (n.*589C>G) c.1108C>G (n.1108C>G) c.978C>G (p.Val326=) c.923-2558C>G (n.923-2558C>G) c.984C>G (p.Val328=) c.1026C>G (p.Val342=) c.567C>G (p.Val189=) | |
5 | g.162149172C>T | CA447610269 | GABRG2 | c.988C>T c.1107C>T (p.Val369=) c.1070C>T n.241C>T c.702C>T (p.Val234=) c.987C>T (p.Val329=) c.864C>T c.378C>T (p.Val126=) c.915C>T (p.Val305=) c.*187C>T (n.*187C>T) c.921C>T (p.Val307=) n.285C>T n.3518C>T c.425C>T c.900C>T (p.Val300=) c.*589C>T (n.*589C>T) c.1108C>T (n.1108C>T) c.978C>T (p.Val326=) c.923-2558C>T (n.923-2558C>T) c.984C>T (p.Val328=) c.1026C>T (p.Val342=) c.567C>T (p.Val189=) | COSMIC |
5 | g.162149173T>A | CA362182430 | GABRG2 | c.989T>A c.1108T>A (p.Ser370Thr) c.1071T>A n.242T>A c.703T>A (p.Ser235Thr) c.988T>A (p.Ser330Thr) c.865T>A c.379T>A (p.Ser127Thr) c.916T>A (p.Ser306Thr) c.*188T>A (n.*188T>A) c.922T>A (p.Ser308Thr) n.286T>A n.3519T>A c.426T>A c.901T>A (p.Ser301Thr) c.*590T>A (n.*590T>A) c.1109T>A (n.1109T>A) c.979T>A (p.Ser327Thr) c.923-2557T>A (n.923-2557T>A) c.985T>A (p.Ser329Thr) c.1027T>A (p.Ser343Thr) c.568T>A (p.Ser190Thr) | ClinVar gnomAD v4 |
5 | g.162149173T>C | CA362182428 | GABRG2 | c.989T>C c.1108T>C (p.Ser370Pro) c.1071T>C n.242T>C c.703T>C (p.Ser235Pro) c.988T>C (p.Ser330Pro) c.865T>C c.379T>C (p.Ser127Pro) c.916T>C (p.Ser306Pro) c.*188T>C (n.*188T>C) c.922T>C (p.Ser308Pro) n.286T>C n.3519T>C c.426T>C c.901T>C (p.Ser301Pro) c.*590T>C (n.*590T>C) c.1109T>C (n.1109T>C) c.979T>C (p.Ser327Pro) c.923-2557T>C (n.923-2557T>C) c.985T>C (p.Ser329Pro) c.1027T>C (p.Ser343Pro) c.568T>C (p.Ser190Pro) | |
5 | g.162149173T>G | CA362182429 | GABRG2 | c.989T>G c.1108T>G (p.Ser370Ala) c.1071T>G n.242T>G c.703T>G (p.Ser235Ala) c.988T>G (p.Ser330Ala) c.865T>G c.379T>G (p.Ser127Ala) c.916T>G (p.Ser306Ala) c.*188T>G (n.*188T>G) c.922T>G (p.Ser308Ala) n.286T>G n.3519T>G c.426T>G c.901T>G (p.Ser301Ala) c.*590T>G (n.*590T>G) c.1109T>G (n.1109T>G) c.979T>G (p.Ser327Ala) c.923-2557T>G (n.923-2557T>G) c.985T>G (p.Ser329Ala) c.1027T>G (p.Ser343Ala) c.568T>G (p.Ser190Ala) | |
5 | g.162149174C>A | CA362182431 | GABRG2 | c.990C>A c.1109C>A (p.Ser370Tyr) c.1072C>A n.243C>A c.704C>A (p.Ser235Tyr) c.989C>A (p.Ser330Tyr) c.866C>A c.380C>A (p.Ser127Tyr) c.917C>A (p.Ser306Tyr) c.*189C>A (n.*189C>A) c.923C>A (p.Ser308Tyr) n.287C>A n.3520C>A c.427C>A c.902C>A (p.Ser301Tyr) c.*591C>A (n.*591C>A) c.1110C>A (n.1110C>A) c.980C>A (p.Ser327Tyr) c.923-2556C>A (n.923-2556C>A) c.986C>A (p.Ser329Tyr) c.1028C>A (p.Ser343Tyr) c.569C>A (p.Ser190Tyr) | |
5 | g.162149174C>G | CA362182432 | GABRG2 | c.990C>G c.1109C>G (p.Ser370Cys) c.1072C>G n.243C>G c.704C>G (p.Ser235Cys) c.989C>G (p.Ser330Cys) c.866C>G c.380C>G (p.Ser127Cys) c.917C>G (p.Ser306Cys) c.*189C>G (n.*189C>G) c.923C>G (p.Ser308Cys) n.287C>G n.3520C>G c.427C>G c.902C>G (p.Ser301Cys) c.*591C>G (n.*591C>G) c.1110C>G (n.1110C>G) c.980C>G (p.Ser327Cys) c.923-2556C>G (n.923-2556C>G) c.986C>G (p.Ser329Cys) c.1028C>G (p.Ser343Cys) c.569C>G (p.Ser190Cys) | |
5 | g.162149174C>T | CA362182433 | GABRG2 | c.990C>T c.1109C>T (p.Ser370Phe) c.1072C>T n.243C>T c.704C>T (p.Ser235Phe) c.989C>T (p.Ser330Phe) c.866C>T c.380C>T (p.Ser127Phe) c.917C>T (p.Ser306Phe) c.*189C>T (n.*189C>T) c.923C>T (p.Ser308Phe) n.287C>T n.3520C>T c.427C>T c.902C>T (p.Ser301Phe) c.*591C>T (n.*591C>T) c.1110C>T (n.1110C>T) c.980C>T (p.Ser327Phe) c.923-2556C>T (n.923-2556C>T) c.986C>T (p.Ser329Phe) c.1028C>T (p.Ser343Phe) c.569C>T (p.Ser190Phe) | COSMIC |
5 | g.162149175C>A | CA447610270 | GABRG2 | c.991C>A c.1110C>A (p.Ser370=) c.1073C>A n.244C>A c.705C>A (p.Ser235=) c.990C>A (p.Ser330=) c.867C>A c.381C>A (p.Ser127=) c.918C>A (p.Ser306=) c.*190C>A (n.*190C>A) c.924C>A (p.Ser308=) n.288C>A n.3521C>A c.428C>A c.903C>A (p.Ser301=) c.*592C>A (n.*592C>A) c.1111C>A (n.1111C>A) c.981C>A (p.Ser327=) c.923-2555C>A (n.923-2555C>A) c.987C>A (p.Ser329=) c.1029C>A (p.Ser343=) c.570C>A (p.Ser190=) | |
5 | g.162149175C>G | CA447610272 | GABRG2 | c.991C>G c.1110C>G (p.Ser370=) c.1073C>G n.244C>G c.705C>G (p.Ser235=) c.990C>G (p.Ser330=) c.867C>G c.381C>G (p.Ser127=) c.918C>G (p.Ser306=) c.*190C>G (n.*190C>G) c.924C>G (p.Ser308=) n.288C>G n.3521C>G c.428C>G c.903C>G (p.Ser301=) c.*592C>G (n.*592C>G) c.1111C>G (n.1111C>G) c.981C>G (p.Ser327=) c.923-2555C>G (n.923-2555C>G) c.987C>G (p.Ser329=) c.1029C>G (p.Ser343=) c.570C>G (p.Ser190=) | |
5 | g.162149175C>T | CA447610271 | GABRG2 | c.991C>T c.1110C>T (p.Ser370=) c.1073C>T n.244C>T c.705C>T (p.Ser235=) c.990C>T (p.Ser330=) c.867C>T c.381C>T (p.Ser127=) c.918C>T (p.Ser306=) c.*190C>T (n.*190C>T) c.924C>T (p.Ser308=) n.288C>T n.3521C>T c.428C>T c.903C>T (p.Ser301=) c.*592C>T (n.*592C>T) c.1111C>T (n.1111C>T) c.981C>T (p.Ser327=) c.923-2555C>T (n.923-2555C>T) c.987C>T (p.Ser329=) c.1029C>T (p.Ser343=) c.570C>T (p.Ser190=) | gnomAD v4 |
5 | g.162149176T>A | CA362182434 | GABRG2 | c.992T>A c.1111T>A (p.Tyr371Asn) c.1074T>A n.245T>A c.706T>A (p.Tyr236Asn) c.991T>A (p.Tyr331Asn) c.868T>A c.382T>A (p.Tyr128Asn) c.919T>A (p.Tyr307Asn) c.*191T>A (n.*191T>A) c.925T>A (p.Tyr309Asn) n.289T>A n.3522T>A c.429T>A c.904T>A (p.Tyr302Asn) c.*593T>A (n.*593T>A) c.1112T>A (n.1112T>A) c.982T>A (p.Tyr328Asn) c.923-2554T>A (n.923-2554T>A) c.988T>A (p.Tyr330Asn) c.1030T>A (p.Tyr344Asn) c.571T>A (p.Tyr191Asn) | ClinVar |
5 | g.162149176T>C | CA362182435 | GABRG2 | c.992T>C c.1111T>C (p.Tyr371His) c.1074T>C n.245T>C c.706T>C (p.Tyr236His) c.991T>C (p.Tyr331His) c.868T>C c.382T>C (p.Tyr128His) c.919T>C (p.Tyr307His) c.*191T>C (n.*191T>C) c.925T>C (p.Tyr309His) n.289T>C n.3522T>C c.429T>C c.904T>C (p.Tyr302His) c.*593T>C (n.*593T>C) c.1112T>C (n.1112T>C) c.982T>C (p.Tyr328His) c.923-2554T>C (n.923-2554T>C) c.988T>C (p.Tyr330His) c.1030T>C (p.Tyr344His) c.571T>C (p.Tyr191His) | gnomAD v4 |
5 | g.162149176T>G | CA362182436 | GABRG2 | c.992T>G c.1111T>G (p.Tyr371Asp) c.1074T>G n.245T>G c.706T>G (p.Tyr236Asp) c.991T>G (p.Tyr331Asp) c.868T>G c.382T>G (p.Tyr128Asp) c.919T>G (p.Tyr307Asp) c.*191T>G (n.*191T>G) c.925T>G (p.Tyr309Asp) n.289T>G n.3522T>G c.429T>G c.904T>G (p.Tyr302Asp) c.*593T>G (n.*593T>G) c.1112T>G (n.1112T>G) c.982T>G (p.Tyr328Asp) c.923-2554T>G (n.923-2554T>G) c.988T>G (p.Tyr330Asp) c.1030T>G (p.Tyr344Asp) c.571T>G (p.Tyr191Asp) | |
5 | g.162149177A= | CA1596380253 | GABRG2 | c.993A= c.1112A= (p.Tyr371=) c.1075A= n.246A= c.707A= (p.Tyr236=) c.992A= (p.Tyr331=) c.869A= c.383A= (p.Tyr128=) c.920A= (p.Tyr307=) c.*192A= (n.*192A=) c.926A= (p.Tyr309=) n.290A= n.3523A= c.430A= c.905A= (p.Tyr302=) c.*594A= (n.*594A=) c.1113A= (n.1113A=) c.983A= (p.Tyr328=) c.923-2553A= (n.923-2553A=) c.989A= (p.Tyr330=) c.1031A= (p.Tyr344=) c.572A= (p.Tyr191=) | |
5 | g.162149177A>C | CA362182437 | GABRG2 | c.993A>C c.1112A>C (p.Tyr371Ser) c.1075A>C n.246A>C c.707A>C (p.Tyr236Ser) c.992A>C (p.Tyr331Ser) c.869A>C c.383A>C (p.Tyr128Ser) c.920A>C (p.Tyr307Ser) c.*192A>C (n.*192A>C) c.926A>C (p.Tyr309Ser) n.290A>C n.3523A>C c.430A>C c.905A>C (p.Tyr302Ser) c.*594A>C (n.*594A>C) c.1113A>C (n.1113A>C) c.983A>C (p.Tyr328Ser) c.923-2553A>C (n.923-2553A>C) c.989A>C (p.Tyr330Ser) c.1031A>C (p.Tyr344Ser) c.572A>C (p.Tyr191Ser) | |
5 | g.162149177A>G | CA362182438 | GABRG2 | c.993A>G c.1112A>G (p.Tyr371Cys) c.1075A>G n.246A>G c.707A>G (p.Tyr236Cys) c.992A>G (p.Tyr331Cys) c.869A>G c.383A>G (p.Tyr128Cys) c.920A>G (p.Tyr307Cys) c.*192A>G (n.*192A>G) c.926A>G (p.Tyr309Cys) n.290A>G n.3523A>G c.430A>G c.905A>G (p.Tyr302Cys) c.*594A>G (n.*594A>G) c.1113A>G (n.1113A>G) c.983A>G (p.Tyr328Cys) c.923-2553A>G (n.923-2553A>G) c.989A>G (p.Tyr330Cys) c.1031A>G (p.Tyr344Cys) c.572A>G (p.Tyr191Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.162149177A>T | CA362182439 | GABRG2 | c.993A>T c.1112A>T (p.Tyr371Phe) c.1075A>T n.246A>T c.707A>T (p.Tyr236Phe) c.992A>T (p.Tyr331Phe) c.869A>T c.383A>T (p.Tyr128Phe) c.920A>T (p.Tyr307Phe) c.*192A>T (n.*192A>T) c.926A>T (p.Tyr309Phe) n.290A>T n.3523A>T c.430A>T c.905A>T (p.Tyr302Phe) c.*594A>T (n.*594A>T) c.1113A>T (n.1113A>T) c.983A>T (p.Tyr328Phe) c.923-2553A>T (n.923-2553A>T) c.989A>T (p.Tyr330Phe) c.1031A>T (p.Tyr344Phe) c.572A>T (p.Tyr191Phe) | |
5 | g.162149178T>A | CA362182440 | GABRG2 | c.994T>A c.1113T>A (p.Tyr371Ter) c.1076T>A n.247T>A c.708T>A (p.Tyr236Ter) c.993T>A (p.Tyr331Ter) c.870T>A c.384T>A (p.Tyr128Ter) c.921T>A (p.Tyr307Ter) c.*193T>A (n.*193T>A) c.927T>A (p.Tyr309Ter) n.291T>A n.3524T>A c.431T>A c.906T>A (p.Tyr302Ter) c.*595T>A (n.*595T>A) c.1114T>A (n.1114T>A) c.984T>A (p.Tyr328Ter) c.923-2552T>A (n.923-2552T>A) c.990T>A (p.Tyr330Ter) c.1032T>A (p.Tyr344Ter) c.573T>A (p.Tyr191Ter) | |
5 | g.162149178T>C | CA447610273 | GABRG2 | c.994T>C c.1113T>C (p.Tyr371=) c.1076T>C n.247T>C c.708T>C (p.Tyr236=) c.993T>C (p.Tyr331=) c.870T>C c.384T>C (p.Tyr128=) c.921T>C (p.Tyr307=) c.*193T>C (n.*193T>C) c.927T>C (p.Tyr309=) n.291T>C n.3524T>C c.431T>C c.906T>C (p.Tyr302=) c.*595T>C (n.*595T>C) c.1114T>C (n.1114T>C) c.984T>C (p.Tyr328=) c.923-2552T>C (n.923-2552T>C) c.990T>C (p.Tyr330=) c.1032T>C (p.Tyr344=) c.573T>C (p.Tyr191=) | |
5 | g.162149178T>G | CA362182441 | GABRG2 | c.994T>G c.1113T>G (p.Tyr371Ter) c.1076T>G n.247T>G c.708T>G (p.Tyr236Ter) c.993T>G (p.Tyr331Ter) c.870T>G c.384T>G (p.Tyr128Ter) c.921T>G (p.Tyr307Ter) c.*193T>G (n.*193T>G) c.927T>G (p.Tyr309Ter) n.291T>G n.3524T>G c.431T>G c.906T>G (p.Tyr302Ter) c.*595T>G (n.*595T>G) c.1114T>G (n.1114T>G) c.984T>G (p.Tyr328Ter) c.923-2552T>G (n.923-2552T>G) c.990T>G (p.Tyr330Ter) c.1032T>G (p.Tyr344Ter) c.573T>G (p.Tyr191Ter) | |
5 | g.162149179G>A | CA362182444 | GABRG2 | c.995G>A c.1114G>A (p.Val372Ile) c.1077G>A n.248G>A c.709G>A (p.Val237Ile) c.994G>A (p.Val332Ile) c.871G>A c.385G>A (p.Val129Ile) c.922G>A (p.Val308Ile) c.*194G>A (n.*194G>A) c.928G>A (p.Val310Ile) n.292G>A n.3525G>A c.432G>A c.907G>A (p.Val303Ile) c.*596G>A (n.*596G>A) c.1115G>A (n.1115G>A) c.985G>A (p.Val329Ile) c.923-2551G>A (n.923-2551G>A) c.991G>A (p.Val331Ile) c.1033G>A (p.Val345Ile) c.574G>A (p.Val192Ile) | |
5 | g.162149179G>C | CA362182443 | GABRG2 | c.995G>C c.1114G>C (p.Val372Leu) c.1077G>C n.248G>C c.709G>C (p.Val237Leu) c.994G>C (p.Val332Leu) c.871G>C c.385G>C (p.Val129Leu) c.922G>C (p.Val308Leu) c.*194G>C (n.*194G>C) c.928G>C (p.Val310Leu) n.292G>C n.3525G>C c.432G>C c.907G>C (p.Val303Leu) c.*596G>C (n.*596G>C) c.1115G>C (n.1115G>C) c.985G>C (p.Val329Leu) c.923-2551G>C (n.923-2551G>C) c.991G>C (p.Val331Leu) c.1033G>C (p.Val345Leu) c.574G>C (p.Val192Leu) | |
5 | g.162149179G>T | CA362182442 | GABRG2 | c.995G>T c.1114G>T (p.Val372Phe) c.1077G>T n.248G>T c.709G>T (p.Val237Phe) c.994G>T (p.Val332Phe) c.871G>T c.385G>T (p.Val129Phe) c.922G>T (p.Val308Phe) c.*194G>T (n.*194G>T) c.928G>T (p.Val310Phe) n.292G>T n.3525G>T c.432G>T c.907G>T (p.Val303Phe) c.*596G>T (n.*596G>T) c.1115G>T (n.1115G>T) c.985G>T (p.Val329Phe) c.923-2551G>T (n.923-2551G>T) c.991G>T (p.Val331Phe) c.1033G>T (p.Val345Phe) c.574G>T (p.Val192Phe) | COSMIC |
5 | g.162149180T>A | CA362182445 | GABRG2 | c.996T>A c.1115T>A (p.Val372Asp) c.1078T>A n.249T>A c.710T>A (p.Val237Asp) c.995T>A (p.Val332Asp) c.872T>A c.386T>A (p.Val129Asp) c.923T>A (p.Val308Asp) c.*195T>A (n.*195T>A) c.929T>A (p.Val310Asp) n.293T>A n.3526T>A c.433T>A c.908T>A (p.Val303Asp) c.*597T>A (n.*597T>A) c.1116T>A (n.1116T>A) c.986T>A (p.Val329Asp) c.923-2550T>A (n.923-2550T>A) c.992T>A (p.Val331Asp) c.1034T>A (p.Val345Asp) c.575T>A (p.Val192Asp) | |
5 | g.162149180T>C | CA362182446 | GABRG2 | c.996T>C c.1115T>C (p.Val372Ala) c.1078T>C n.249T>C c.710T>C (p.Val237Ala) c.995T>C (p.Val332Ala) c.872T>C c.386T>C (p.Val129Ala) c.923T>C (p.Val308Ala) c.*195T>C (n.*195T>C) c.929T>C (p.Val310Ala) n.293T>C n.3526T>C c.433T>C c.908T>C (p.Val303Ala) c.*597T>C (n.*597T>C) c.1116T>C (n.1116T>C) c.986T>C (p.Val329Ala) c.923-2550T>C (n.923-2550T>C) c.992T>C (p.Val331Ala) c.1034T>C (p.Val345Ala) c.575T>C (p.Val192Ala) | |
5 | g.162149180T>G | CA362182447 | GABRG2 | c.996T>G c.1115T>G (p.Val372Gly) c.1078T>G n.249T>G c.710T>G (p.Val237Gly) c.995T>G (p.Val332Gly) c.872T>G c.386T>G (p.Val129Gly) c.923T>G (p.Val308Gly) c.*195T>G (n.*195T>G) c.929T>G (p.Val310Gly) n.293T>G n.3526T>G c.433T>G c.908T>G (p.Val303Gly) c.*597T>G (n.*597T>G) c.1116T>G (n.1116T>G) c.986T>G (p.Val329Gly) c.923-2550T>G (n.923-2550T>G) c.992T>G (p.Val331Gly) c.1034T>G (p.Val345Gly) c.575T>G (p.Val192Gly) | |
5 | g.162149181C>A | CA447610274 | GABRG2 | c.997C>A c.1116C>A (p.Val372=) c.1079C>A n.250C>A c.711C>A (p.Val237=) c.996C>A (p.Val332=) c.873C>A c.387C>A (p.Val129=) c.924C>A (p.Val308=) c.*196C>A (n.*196C>A) c.930C>A (p.Val310=) n.294C>A n.3527C>A c.434C>A c.909C>A (p.Val303=) c.*598C>A (n.*598C>A) c.1117C>A (n.1117C>A) c.987C>A (p.Val329=) c.923-2549C>A (n.923-2549C>A) c.993C>A (p.Val331=) c.1035C>A (p.Val345=) c.576C>A (p.Val192=) | |
5 | g.162149181C= | CA1596380254 | GABRG2 | c.997C= c.1116C= (p.Val372=) c.1079C= n.250C= c.711C= (p.Val237=) c.996C= (p.Val332=) c.873C= c.387C= (p.Val129=) c.924C= (p.Val308=) c.*196C= (n.*196C=) c.930C= (p.Val310=) n.294C= n.3527C= c.434C= c.909C= (p.Val303=) c.*598C= (n.*598C=) c.1117C= (n.1117C=) c.987C= (p.Val329=) c.923-2549C= (n.923-2549C=) c.993C= (p.Val331=) c.1035C= (p.Val345=) c.576C= (p.Val192=) | |
5 | g.162149181C>G | CA447610275 | GABRG2 | c.997C>G c.1116C>G (p.Val372=) c.1079C>G n.250C>G c.711C>G (p.Val237=) c.996C>G (p.Val332=) c.873C>G c.387C>G (p.Val129=) c.924C>G (p.Val308=) c.*196C>G (n.*196C>G) c.930C>G (p.Val310=) n.294C>G n.3527C>G c.434C>G c.909C>G (p.Val303=) c.*598C>G (n.*598C>G) c.1117C>G (n.1117C>G) c.987C>G (p.Val329=) c.923-2549C>G (n.923-2549C>G) c.993C>G (p.Val331=) c.1035C>G (p.Val345=) c.576C>G (p.Val192=) | |
5 | g.162149181C>T | CA131117318 | GABRG2 | c.997C>T c.1116C>T (p.Val372=) c.1079C>T n.250C>T c.711C>T (p.Val237=) c.996C>T (p.Val332=) c.873C>T c.387C>T (p.Val129=) c.924C>T (p.Val308=) c.*196C>T (n.*196C>T) c.930C>T (p.Val310=) n.294C>T n.3527C>T c.434C>T c.909C>T (p.Val303=) c.*598C>T (n.*598C>T) c.1117C>T (n.1117C>T) c.987C>T (p.Val329=) c.923-2549C>T (n.923-2549C>T) c.993C>T (p.Val331=) c.1035C>T (p.Val345=) c.576C>T (p.Val192=) | ClinVar dbSNP gnomAD v4 |
5 | g.162149182A>C | CA362182448 | GABRG2 | c.998A>C c.1117A>C (p.Thr373Pro) c.1080A>C n.251A>C c.712A>C (p.Thr238Pro) c.997A>C (p.Thr333Pro) c.874A>C c.388A>C (p.Thr130Pro) c.925A>C (p.Thr309Pro) c.*197A>C (n.*197A>C) c.931A>C (p.Thr311Pro) n.295A>C n.3528A>C c.435A>C c.910A>C (p.Thr304Pro) c.*599A>C (n.*599A>C) c.1118A>C (n.1118A>C) c.988A>C (p.Thr330Pro) c.923-2548A>C (n.923-2548A>C) c.994A>C (p.Thr332Pro) c.1036A>C (p.Thr346Pro) c.577A>C (p.Thr193Pro) | |
5 | g.162149182A>G | CA362182449 | GABRG2 | c.998A>G c.1117A>G (p.Thr373Ala) c.1080A>G n.251A>G c.712A>G (p.Thr238Ala) c.997A>G (p.Thr333Ala) c.874A>G c.388A>G (p.Thr130Ala) c.925A>G (p.Thr309Ala) c.*197A>G (n.*197A>G) c.931A>G (p.Thr311Ala) n.295A>G n.3528A>G c.435A>G c.910A>G (p.Thr304Ala) c.*599A>G (n.*599A>G) c.1118A>G (n.1118A>G) c.988A>G (p.Thr330Ala) c.923-2548A>G (n.923-2548A>G) c.994A>G (p.Thr332Ala) c.1036A>G (p.Thr346Ala) c.577A>G (p.Thr193Ala) | |
5 | g.162149182A>T | CA362182450 | GABRG2 | c.998A>T c.1117A>T (p.Thr373Ser) c.1080A>T n.251A>T c.712A>T (p.Thr238Ser) c.997A>T (p.Thr333Ser) c.874A>T c.388A>T (p.Thr130Ser) c.925A>T (p.Thr309Ser) c.*197A>T (n.*197A>T) c.931A>T (p.Thr311Ser) n.295A>T n.3528A>T c.435A>T c.910A>T (p.Thr304Ser) c.*599A>T (n.*599A>T) c.1118A>T (n.1118A>T) c.988A>T (p.Thr330Ser) c.923-2548A>T (n.923-2548A>T) c.994A>T (p.Thr332Ser) c.1036A>T (p.Thr346Ser) c.577A>T (p.Thr193Ser) | |
5 | g.162149183C>A | CA362182451 | GABRG2 | c.999C>A c.1118C>A (p.Thr373Lys) c.1081C>A n.252C>A c.713C>A (p.Thr238Lys) c.998C>A (p.Thr333Lys) c.875C>A c.389C>A (p.Thr130Lys) c.926C>A (p.Thr309Lys) c.*198C>A (n.*198C>A) c.932C>A (p.Thr311Lys) n.296C>A n.3529C>A c.436C>A c.911C>A (p.Thr304Lys) c.*600C>A (n.*600C>A) c.1119C>A (n.1119C>A) c.989C>A (p.Thr330Lys) c.923-2547C>A (n.923-2547C>A) c.995C>A (p.Thr332Lys) c.1037C>A (p.Thr346Lys) c.578C>A (p.Thr193Lys) | |
5 | g.162149183C>G | CA362182452 | GABRG2 | c.999C>G c.1118C>G (p.Thr373Arg) c.1081C>G n.252C>G c.713C>G (p.Thr238Arg) c.998C>G (p.Thr333Arg) c.875C>G c.389C>G (p.Thr130Arg) c.926C>G (p.Thr309Arg) c.*198C>G (n.*198C>G) c.932C>G (p.Thr311Arg) n.296C>G n.3529C>G c.436C>G c.911C>G (p.Thr304Arg) c.*600C>G (n.*600C>G) c.1119C>G (n.1119C>G) c.989C>G (p.Thr330Arg) c.923-2547C>G (n.923-2547C>G) c.995C>G (p.Thr332Arg) c.1037C>G (p.Thr346Arg) c.578C>G (p.Thr193Arg) | |
5 | g.162149183C>T | CA362182453 | GABRG2 | c.999C>T c.1118C>T (p.Thr373Ile) c.1081C>T n.252C>T c.713C>T (p.Thr238Ile) c.998C>T (p.Thr333Ile) c.875C>T c.389C>T (p.Thr130Ile) c.926C>T (p.Thr309Ile) c.*198C>T (n.*198C>T) c.932C>T (p.Thr311Ile) n.296C>T n.3529C>T c.436C>T c.911C>T (p.Thr304Ile) c.*600C>T (n.*600C>T) c.1119C>T (n.1119C>T) c.989C>T (p.Thr330Ile) c.923-2547C>T (n.923-2547C>T) c.995C>T (p.Thr332Ile) c.1037C>T (p.Thr346Ile) c.578C>T (p.Thr193Ile) | COSMIC |
5 | g.162149184A= | CA1596380255 | GABRG2 | c.1000A= c.1119A= (p.Thr373=) c.1082A= n.253A= c.714A= (p.Thr238=) c.999A= (p.Thr333=) c.876A= c.390A= (p.Thr130=) c.927A= (p.Thr309=) c.*199A= (n.*199A=) c.933A= (p.Thr311=) n.297A= n.3530A= c.437A= c.912A= (p.Thr304=) c.*601A= (n.*601A=) c.1120A= (n.1120A=) c.990A= (p.Thr330=) c.923-2546A= (n.923-2546A=) c.996A= (p.Thr332=) c.1038A= (p.Thr346=) c.579A= (p.Thr193=) | |
5 | g.162149184A>C | CA447610276 | GABRG2 | c.1000A>C c.1119A>C (p.Thr373=) c.1082A>C n.253A>C c.714A>C (p.Thr238=) c.999A>C (p.Thr333=) c.876A>C c.390A>C (p.Thr130=) c.927A>C (p.Thr309=) c.*199A>C (n.*199A>C) c.933A>C (p.Thr311=) n.297A>C n.3530A>C c.437A>C c.912A>C (p.Thr304=) c.*601A>C (n.*601A>C) c.1120A>C (n.1120A>C) c.990A>C (p.Thr330=) c.923-2546A>C (n.923-2546A>C) c.996A>C (p.Thr332=) c.1038A>C (p.Thr346=) c.579A>C (p.Thr193=) | |
5 | g.162149184A>G | CA447610277 | GABRG2 | c.1000A>G c.1119A>G (p.Thr373=) c.1082A>G n.253A>G c.714A>G (p.Thr238=) c.999A>G (p.Thr333=) c.876A>G c.390A>G (p.Thr130=) c.927A>G (p.Thr309=) c.*199A>G (n.*199A>G) c.933A>G (p.Thr311=) n.297A>G n.3530A>G c.437A>G c.912A>G (p.Thr304=) c.*601A>G (n.*601A>G) c.1120A>G (n.1120A>G) c.990A>G (p.Thr330=) c.923-2546A>G (n.923-2546A>G) c.996A>G (p.Thr332=) c.1038A>G (p.Thr346=) c.579A>G (p.Thr193=) | |
5 | g.162149184A>T | CA3544864 | GABRG2 | c.1000A>T c.1119A>T (p.Thr373=) c.1082A>T n.253A>T c.714A>T (p.Thr238=) c.999A>T (p.Thr333=) c.876A>T c.390A>T (p.Thr130=) c.927A>T (p.Thr309=) c.*199A>T (n.*199A>T) c.933A>T (p.Thr311=) n.297A>T n.3530A>T c.437A>T c.912A>T (p.Thr304=) c.*601A>T (n.*601A>T) c.1120A>T (n.1120A>T) c.990A>T (p.Thr330=) c.923-2546A>T (n.923-2546A>T) c.996A>T (p.Thr332=) c.1038A>T (p.Thr346=) c.579A>T (p.Thr193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162149185G>A | CA221363 | GABRG2 | c.1001G>A c.1120G>A (p.Ala374Thr) c.1083G>A n.254G>A c.715G>A (p.Ala239Thr) c.1000G>A (p.Ala334Thr) c.877G>A c.391G>A (p.Ala131Thr) c.928G>A (p.Ala310Thr) c.*200G>A (n.*200G>A) c.934G>A (p.Ala312Thr) n.298G>A n.3531G>A c.438G>A c.913G>A (p.Ala305Thr) c.*602G>A (n.*602G>A) c.1121G>A (n.1121G>A) c.991G>A (p.Ala331Thr) c.923-2545G>A (n.923-2545G>A) c.997G>A (p.Ala333Thr) c.1039G>A (p.Ala347Thr) c.580G>A (p.Ala194Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162149185G>C | CA362182454 | GABRG2 | c.1001G>C c.1120G>C (p.Ala374Pro) c.1083G>C n.254G>C c.715G>C (p.Ala239Pro) c.1000G>C (p.Ala334Pro) c.877G>C c.391G>C (p.Ala131Pro) c.928G>C (p.Ala310Pro) c.*200G>C (n.*200G>C) c.934G>C (p.Ala312Pro) n.298G>C n.3531G>C c.438G>C c.913G>C (p.Ala305Pro) c.*602G>C (n.*602G>C) c.1121G>C (n.1121G>C) c.991G>C (p.Ala331Pro) c.923-2545G>C (n.923-2545G>C) c.997G>C (p.Ala333Pro) c.1039G>C (p.Ala347Pro) c.580G>C (p.Ala194Pro) | |
5 | g.162149185G= | CA1596380256 | GABRG2 | c.1001G= c.1120G= (p.Ala374=) c.1083G= n.254G= c.715G= (p.Ala239=) c.1000G= (p.Ala334=) c.877G= c.391G= (p.Ala131=) c.928G= (p.Ala310=) c.*200G= (n.*200G=) c.934G= (p.Ala312=) n.298G= n.3531G= c.438G= c.913G= (p.Ala305=) c.*602G= (n.*602G=) c.1121G= (n.1121G=) c.991G= (p.Ala331=) c.923-2545G= (n.923-2545G=) c.997G= (p.Ala333=) c.1039G= (p.Ala347=) c.580G= (p.Ala194=) | |
5 | g.162149185G>T | CA362182455 | GABRG2 | c.1001G>T c.1120G>T (p.Ala374Ser) c.1083G>T n.254G>T c.715G>T (p.Ala239Ser) c.1000G>T (p.Ala334Ser) c.877G>T c.391G>T (p.Ala131Ser) c.928G>T (p.Ala310Ser) c.*200G>T (n.*200G>T) c.934G>T (p.Ala312Ser) n.298G>T n.3531G>T c.438G>T c.913G>T (p.Ala305Ser) c.*602G>T (n.*602G>T) c.1121G>T (n.1121G>T) c.991G>T (p.Ala331Ser) c.923-2545G>T (n.923-2545G>T) c.997G>T (p.Ala333Ser) c.1039G>T (p.Ala347Ser) c.580G>T (p.Ala194Ser) | |
5 | g.162149186C>A | CA362182457 | GABRG2 | c.1002C>A c.1121C>A (p.Ala374Glu) c.1084C>A n.255C>A c.716C>A (p.Ala239Glu) c.1001C>A (p.Ala334Glu) c.878C>A c.392C>A (p.Ala131Glu) c.929C>A (p.Ala310Glu) c.*201C>A (n.*201C>A) c.935C>A (p.Ala312Glu) n.299C>A n.3532C>A c.439C>A c.914C>A (p.Ala305Glu) c.*603C>A (n.*603C>A) c.1122C>A (n.1122C>A) c.992C>A (p.Ala331Glu) c.923-2544C>A (n.923-2544C>A) c.998C>A (p.Ala333Glu) c.1040C>A (p.Ala347Glu) c.581C>A (p.Ala194Glu) | |
5 | g.162149186C= | CA1596380257 | GABRG2 | c.1002C= c.1121C= (p.Ala374=) c.1084C= n.255C= c.716C= (p.Ala239=) c.1001C= (p.Ala334=) c.878C= c.392C= (p.Ala131=) c.929C= (p.Ala310=) c.*201C= (n.*201C=) c.935C= (p.Ala312=) n.299C= n.3532C= c.439C= c.914C= (p.Ala305=) c.*603C= (n.*603C=) c.1122C= (n.1122C=) c.992C= (p.Ala331=) c.923-2544C= (n.923-2544C=) c.998C= (p.Ala333=) c.1040C= (p.Ala347=) c.581C= (p.Ala194=) | |
5 | g.162149186C>G | CA362182458 | GABRG2 | c.1002C>G c.1121C>G (p.Ala374Gly) c.1084C>G n.255C>G c.716C>G (p.Ala239Gly) c.1001C>G (p.Ala334Gly) c.878C>G c.392C>G (p.Ala131Gly) c.929C>G (p.Ala310Gly) c.*201C>G (n.*201C>G) c.935C>G (p.Ala312Gly) n.299C>G n.3532C>G c.439C>G c.914C>G (p.Ala305Gly) c.*603C>G (n.*603C>G) c.1122C>G (n.1122C>G) c.992C>G (p.Ala331Gly) c.923-2544C>G (n.923-2544C>G) c.998C>G (p.Ala333Gly) c.1040C>G (p.Ala347Gly) c.581C>G (p.Ala194Gly) | gnomAD v4 |
5 | g.162149186C>T | CA362182456 | GABRG2 | c.1002C>T c.1121C>T (p.Ala374Val) c.1084C>T n.255C>T c.716C>T (p.Ala239Val) c.1001C>T (p.Ala334Val) c.878C>T c.392C>T (p.Ala131Val) c.929C>T (p.Ala310Val) c.*201C>T (n.*201C>T) c.935C>T (p.Ala312Val) n.299C>T n.3532C>T c.439C>T c.914C>T (p.Ala305Val) c.*603C>T (n.*603C>T) c.1122C>T (n.1122C>T) c.992C>T (p.Ala331Val) c.923-2544C>T (n.923-2544C>T) c.998C>T (p.Ala333Val) c.1040C>T (p.Ala347Val) c.581C>T (p.Ala194Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.162149187G>A | CA3544865 | GABRG2 | c.1003G>A c.1122G>A (p.Ala374=) c.1085G>A n.256G>A c.717G>A (p.Ala239=) c.1002G>A (p.Ala334=) c.879G>A c.393G>A (p.Ala131=) c.930G>A (p.Ala310=) c.*202G>A (n.*202G>A) c.936G>A (p.Ala312=) n.300G>A n.3533G>A c.440G>A c.915G>A (p.Ala305=) c.*604G>A (n.*604G>A) c.1123G>A (n.1123G>A) c.993G>A (p.Ala331=) c.923-2543G>A (n.923-2543G>A) c.999G>A (p.Ala333=) c.1041G>A (p.Ala347=) c.582G>A (p.Ala194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162149187G>C | CA131117319 | GABRG2 | c.1003G>C c.1122G>C (p.Ala374=) c.1085G>C n.256G>C c.717G>C (p.Ala239=) c.1002G>C (p.Ala334=) c.879G>C c.393G>C (p.Ala131=) c.930G>C (p.Ala310=) c.*202G>C (n.*202G>C) c.936G>C (p.Ala312=) n.300G>C n.3533G>C c.440G>C c.915G>C (p.Ala305=) c.*604G>C (n.*604G>C) c.1123G>C (n.1123G>C) c.993G>C (p.Ala331=) c.923-2543G>C (n.923-2543G>C) c.999G>C (p.Ala333=) c.1041G>C (p.Ala347=) c.582G>C (p.Ala194=) | dbSNP |
5 | g.162149187G= | CA1596380258 | GABRG2 | c.1003G= c.1122G= (p.Ala374=) c.1085G= n.256G= c.717G= (p.Ala239=) c.1002G= (p.Ala334=) c.879G= c.393G= (p.Ala131=) c.930G= (p.Ala310=) c.*202G= (n.*202G=) c.936G= (p.Ala312=) n.300G= n.3533G= c.440G= c.915G= (p.Ala305=) c.*604G= (n.*604G=) c.1123G= (n.1123G=) c.993G= (p.Ala331=) c.923-2543G= (n.923-2543G=) c.999G= (p.Ala333=) c.1041G= (p.Ala347=) c.582G= (p.Ala194=) | |
5 | g.162149187G>T | CA447610278 | GABRG2 | c.1003G>T c.1122G>T (p.Ala374=) c.1085G>T n.256G>T c.717G>T (p.Ala239=) c.1002G>T (p.Ala334=) c.879G>T c.393G>T (p.Ala131=) c.930G>T (p.Ala310=) c.*202G>T (n.*202G>T) c.936G>T (p.Ala312=) n.300G>T n.3533G>T c.440G>T c.915G>T (p.Ala305=) c.*604G>T (n.*604G>T) c.1123G>T (n.1123G>T) c.993G>T (p.Ala331=) c.923-2543G>T (n.923-2543G>T) c.999G>T (p.Ala333=) c.1041G>T (p.Ala347=) c.582G>T (p.Ala194=) | |
5 | g.162149188A>C | CA362182459 | GABRG2 | c.1004A>C c.1123A>C (p.Met375Leu) c.1086A>C n.257A>C c.718A>C (p.Met240Leu) c.1003A>C (p.Met335Leu) c.880A>C c.394A>C (p.Met132Leu) c.931A>C (p.Met311Leu) c.*203A>C (n.*203A>C) c.937A>C (p.Met313Leu) n.301A>C n.3534A>C c.441A>C c.916A>C (p.Met306Leu) c.*605A>C (n.*605A>C) c.1124A>C (n.1124A>C) c.994A>C (p.Met332Leu) c.923-2542A>C (n.923-2542A>C) c.1000A>C (p.Met334Leu) c.1042A>C (p.Met348Leu) c.583A>C (p.Met195Leu) | |
5 | g.162149188A>G | CA362182460 | GABRG2 | c.1004A>G c.1123A>G (p.Met375Val) c.1086A>G n.257A>G c.718A>G (p.Met240Val) c.1003A>G (p.Met335Val) c.880A>G c.394A>G (p.Met132Val) c.931A>G (p.Met311Val) c.*203A>G (n.*203A>G) c.937A>G (p.Met313Val) n.301A>G n.3534A>G c.441A>G c.916A>G (p.Met306Val) c.*605A>G (n.*605A>G) c.1124A>G (n.1124A>G) c.994A>G (p.Met332Val) c.923-2542A>G (n.923-2542A>G) c.1000A>G (p.Met334Val) c.1042A>G (p.Met348Val) c.583A>G (p.Met195Val) | |
5 | g.162149188A>T | CA362182461 | GABRG2 | c.1004A>T c.1123A>T (p.Met375Leu) c.1086A>T n.257A>T c.718A>T (p.Met240Leu) c.1003A>T (p.Met335Leu) c.880A>T c.394A>T (p.Met132Leu) c.931A>T (p.Met311Leu) c.*203A>T (n.*203A>T) c.937A>T (p.Met313Leu) n.301A>T n.3534A>T c.441A>T c.916A>T (p.Met306Leu) c.*605A>T (n.*605A>T) c.1124A>T (n.1124A>T) c.994A>T (p.Met332Leu) c.923-2542A>T (n.923-2542A>T) c.1000A>T (p.Met334Leu) c.1042A>T (p.Met348Leu) c.583A>T (p.Met195Leu) | |
5 | g.162149189T>A | CA362182462 | GABRG2 | c.1005T>A c.1124T>A (p.Met375Lys) c.1087T>A n.258T>A c.719T>A (p.Met240Lys) c.1004T>A (p.Met335Lys) c.881T>A c.395T>A (p.Met132Lys) c.932T>A (p.Met311Lys) c.*204T>A (n.*204T>A) c.938T>A (p.Met313Lys) n.302T>A n.3535T>A c.442T>A c.917T>A (p.Met306Lys) c.*606T>A (n.*606T>A) c.1125T>A (n.1125T>A) c.995T>A (p.Met332Lys) c.923-2541T>A (n.923-2541T>A) c.1001T>A (p.Met334Lys) c.1043T>A (p.Met348Lys) c.584T>A (p.Met195Lys) | |
5 | g.162149189T>C | CA362182463 | GABRG2 | c.1005T>C c.1124T>C (p.Met375Thr) c.1087T>C n.258T>C c.719T>C (p.Met240Thr) c.1004T>C (p.Met335Thr) c.881T>C c.395T>C (p.Met132Thr) c.932T>C (p.Met311Thr) c.*204T>C (n.*204T>C) c.938T>C (p.Met313Thr) n.302T>C n.3535T>C c.442T>C c.917T>C (p.Met306Thr) c.*606T>C (n.*606T>C) c.1125T>C (n.1125T>C) c.995T>C (p.Met332Thr) c.923-2541T>C (n.923-2541T>C) c.1001T>C (p.Met334Thr) c.1043T>C (p.Met348Thr) c.584T>C (p.Met195Thr) | |
5 | g.162149189T>G | CA362182464 | GABRG2 | c.1005T>G c.1124T>G (p.Met375Arg) c.1087T>G n.258T>G c.719T>G (p.Met240Arg) c.1004T>G (p.Met335Arg) c.881T>G c.395T>G (p.Met132Arg) c.932T>G (p.Met311Arg) c.*204T>G (n.*204T>G) c.938T>G (p.Met313Arg) n.302T>G n.3535T>G c.442T>G c.917T>G (p.Met306Arg) c.*606T>G (n.*606T>G) c.1125T>G (n.1125T>G) c.995T>G (p.Met332Arg) c.923-2541T>G (n.923-2541T>G) c.1001T>G (p.Met334Arg) c.1043T>G (p.Met348Arg) c.584T>G (p.Met195Arg) | |
5 | g.162149190G>A | CA362182465 | GABRG2 | c.1006G>A c.1125G>A (p.Met375Ile) c.1088G>A n.259G>A c.720G>A (p.Met240Ile) c.1005G>A (p.Met335Ile) c.882G>A c.396G>A (p.Met132Ile) c.933G>A (p.Met311Ile) c.*205G>A (n.*205G>A) c.939G>A (p.Met313Ile) n.303G>A n.3536G>A c.443G>A c.918G>A (p.Met306Ile) c.*607G>A (n.*607G>A) c.1126G>A (n.1126G>A) c.996G>A (p.Met332Ile) c.923-2540G>A (n.923-2540G>A) c.1002G>A (p.Met334Ile) c.1044G>A (p.Met348Ile) c.585G>A (p.Met195Ile) | gnomAD v4 |
5 | g.162149190G>C | CA362182466 | GABRG2 | c.1006G>C c.1125G>C (p.Met375Ile) c.1088G>C n.259G>C c.720G>C (p.Met240Ile) c.1005G>C (p.Met335Ile) c.882G>C c.396G>C (p.Met132Ile) c.933G>C (p.Met311Ile) c.*205G>C (n.*205G>C) c.939G>C (p.Met313Ile) n.303G>C n.3536G>C c.443G>C c.918G>C (p.Met306Ile) c.*607G>C (n.*607G>C) c.1126G>C (n.1126G>C) c.996G>C (p.Met332Ile) c.923-2540G>C (n.923-2540G>C) c.1002G>C (p.Met334Ile) c.1044G>C (p.Met348Ile) c.585G>C (p.Met195Ile) | |
5 | g.162149190G>T | CA362182467 | GABRG2 | c.1006G>T c.1125G>T (p.Met375Ile) c.1088G>T n.259G>T c.720G>T (p.Met240Ile) c.1005G>T (p.Met335Ile) c.882G>T c.396G>T (p.Met132Ile) c.933G>T (p.Met311Ile) c.*205G>T (n.*205G>T) c.939G>T (p.Met313Ile) n.303G>T n.3536G>T c.443G>T c.918G>T (p.Met306Ile) c.*607G>T (n.*607G>T) c.1126G>T (n.1126G>T) c.996G>T (p.Met332Ile) c.923-2540G>T (n.923-2540G>T) c.1002G>T (p.Met334Ile) c.1044G>T (p.Met348Ile) c.585G>T (p.Met195Ile) | |
5 | g.162149191G>A | CA362182468 | GABRG2 | c.1007G>A c.1126G>A (p.Asp376Asn) c.1089G>A n.260G>A c.721G>A (p.Asp241Asn) c.1006G>A (p.Asp336Asn) c.883G>A c.397G>A (p.Asp133Asn) c.934G>A (p.Asp312Asn) c.*206G>A (n.*206G>A) c.940G>A (p.Asp314Asn) n.304G>A n.3537G>A c.444G>A c.919G>A (p.Asp307Asn) c.*608G>A (n.*608G>A) c.1127G>A (n.1127G>A) c.997G>A (p.Asp333Asn) c.923-2539G>A (n.923-2539G>A) c.1003G>A (p.Asp335Asn) c.1045G>A (p.Asp349Asn) c.586G>A (p.Asp196Asn) | COSMIC |
5 | g.162149191G>C | CA362182469 | GABRG2 | c.1007G>C c.1126G>C (p.Asp376His) c.1089G>C n.260G>C c.721G>C (p.Asp241His) c.1006G>C (p.Asp336His) c.883G>C c.397G>C (p.Asp133His) c.934G>C (p.Asp312His) c.*206G>C (n.*206G>C) c.940G>C (p.Asp314His) n.304G>C n.3537G>C c.444G>C c.919G>C (p.Asp307His) c.*608G>C (n.*608G>C) c.1127G>C (n.1127G>C) c.997G>C (p.Asp333His) c.923-2539G>C (n.923-2539G>C) c.1003G>C (p.Asp335His) c.1045G>C (p.Asp349His) c.586G>C (p.Asp196His) | |
5 | g.162149191G>T | CA362182470 | GABRG2 | c.1007G>T c.1126G>T (p.Asp376Tyr) c.1089G>T n.260G>T c.721G>T (p.Asp241Tyr) c.1006G>T (p.Asp336Tyr) c.883G>T c.397G>T (p.Asp133Tyr) c.934G>T (p.Asp312Tyr) c.*206G>T (n.*206G>T) c.940G>T (p.Asp314Tyr) n.304G>T n.3537G>T c.444G>T c.919G>T (p.Asp307Tyr) c.*608G>T (n.*608G>T) c.1127G>T (n.1127G>T) c.997G>T (p.Asp333Tyr) c.923-2539G>T (n.923-2539G>T) c.1003G>T (p.Asp335Tyr) c.1045G>T (p.Asp349Tyr) c.586G>T (p.Asp196Tyr) | |
5 | g.162149192A= | CA1596380259 | GABRG2 | c.1008A= c.1127A= (p.Asp376=) c.1090A= n.261A= c.722A= (p.Asp241=) c.1007A= (p.Asp336=) c.884A= c.398A= (p.Asp133=) c.935A= (p.Asp312=) c.*207A= (n.*207A=) c.941A= (p.Asp314=) n.305A= n.3538A= c.445A= c.920A= (p.Asp307=) c.*609A= (n.*609A=) c.1128A= (n.1128A=) c.998A= (p.Asp333=) c.923-2538A= (n.923-2538A=) c.1004A= (p.Asp335=) c.1046A= (p.Asp349=) c.587A= (p.Asp196=) | |
5 | g.162149192A>C | CA362182472 | GABRG2 | c.1008A>C c.1127A>C (p.Asp376Ala) c.1090A>C n.261A>C c.722A>C (p.Asp241Ala) c.1007A>C (p.Asp336Ala) c.884A>C c.398A>C (p.Asp133Ala) c.935A>C (p.Asp312Ala) c.*207A>C (n.*207A>C) c.941A>C (p.Asp314Ala) n.305A>C n.3538A>C c.445A>C c.920A>C (p.Asp307Ala) c.*609A>C (n.*609A>C) c.1128A>C (n.1128A>C) c.998A>C (p.Asp333Ala) c.923-2538A>C (n.923-2538A>C) c.1004A>C (p.Asp335Ala) c.1046A>C (p.Asp349Ala) c.587A>C (p.Asp196Ala) | |
5 | g.162149192A>G | CA16612026 | GABRG2 | c.1008A>G c.1127A>G (p.Asp376Gly) c.1090A>G n.261A>G c.722A>G (p.Asp241Gly) c.1007A>G (p.Asp336Gly) c.884A>G c.398A>G (p.Asp133Gly) c.935A>G (p.Asp312Gly) c.*207A>G (n.*207A>G) c.941A>G (p.Asp314Gly) n.305A>G n.3538A>G c.445A>G c.920A>G (p.Asp307Gly) c.*609A>G (n.*609A>G) c.1128A>G (n.1128A>G) c.998A>G (p.Asp333Gly) c.923-2538A>G (n.923-2538A>G) c.1004A>G (p.Asp335Gly) c.1046A>G (p.Asp349Gly) c.587A>G (p.Asp196Gly) | ClinVar dbSNP |
5 | g.162149192A>T | CA362182471 | GABRG2 | c.1008A>T c.1127A>T (p.Asp376Val) c.1090A>T n.261A>T c.722A>T (p.Asp241Val) c.1007A>T (p.Asp336Val) c.884A>T c.398A>T (p.Asp133Val) c.935A>T (p.Asp312Val) c.*207A>T (n.*207A>T) c.941A>T (p.Asp314Val) n.305A>T n.3538A>T c.445A>T c.920A>T (p.Asp307Val) c.*609A>T (n.*609A>T) c.1128A>T (n.1128A>T) c.998A>T (p.Asp333Val) c.923-2538A>T (n.923-2538A>T) c.1004A>T (p.Asp335Val) c.1046A>T (p.Asp349Val) c.587A>T (p.Asp196Val) | |
5 | g.162149193T>A | CA362182473 | GABRG2 | c.1009T>A c.1128T>A (p.Asp376Glu) c.1091T>A n.262T>A c.723T>A (p.Asp241Glu) c.1008T>A (p.Asp336Glu) c.885T>A c.399T>A (p.Asp133Glu) c.936T>A (p.Asp312Glu) c.*208T>A (n.*208T>A) c.942T>A (p.Asp314Glu) n.306T>A n.3539T>A c.446T>A c.921T>A (p.Asp307Glu) c.*610T>A (n.*610T>A) c.1129T>A (n.1129T>A) c.999T>A (p.Asp333Glu) c.923-2537T>A (n.923-2537T>A) c.1005T>A (p.Asp335Glu) c.1047T>A (p.Asp349Glu) c.588T>A (p.Asp196Glu) | ClinVar |
5 | g.162149193T>C | CA447610279 | GABRG2 | c.1009T>C c.1128T>C (p.Asp376=) c.1091T>C n.262T>C c.723T>C (p.Asp241=) c.1008T>C (p.Asp336=) c.885T>C c.399T>C (p.Asp133=) c.936T>C (p.Asp312=) c.*208T>C (n.*208T>C) c.942T>C (p.Asp314=) n.306T>C n.3539T>C c.446T>C c.921T>C (p.Asp307=) c.*610T>C (n.*610T>C) c.1129T>C (n.1129T>C) c.999T>C (p.Asp333=) c.923-2537T>C (n.923-2537T>C) c.1005T>C (p.Asp335=) c.1047T>C (p.Asp349=) c.588T>C (p.Asp196=) | |
5 | g.162149193T>G | CA362182474 | GABRG2 | c.1009T>G c.1128T>G (p.Asp376Glu) c.1091T>G n.262T>G c.723T>G (p.Asp241Glu) c.1008T>G (p.Asp336Glu) c.885T>G c.399T>G (p.Asp133Glu) c.936T>G (p.Asp312Glu) c.*208T>G (n.*208T>G) c.942T>G (p.Asp314Glu) n.306T>G n.3539T>G c.446T>G c.921T>G (p.Asp307Glu) c.*610T>G (n.*610T>G) c.1129T>G (n.1129T>G) c.999T>G (p.Asp333Glu) c.923-2537T>G (n.923-2537T>G) c.1005T>G (p.Asp335Glu) c.1047T>G (p.Asp349Glu) c.588T>G (p.Asp196Glu) | |
5 | g.162149194C>A | CA362182475 | GABRG2 | c.1010C>A c.1129C>A (p.Leu377Ile) c.1092C>A n.263C>A c.724C>A (p.Leu242Ile) c.1009C>A (p.Leu337Ile) c.886C>A c.400C>A (p.Leu134Ile) c.937C>A (p.Leu313Ile) c.*209C>A (n.*209C>A) c.943C>A (p.Leu315Ile) n.307C>A n.3540C>A c.447C>A c.922C>A (p.Leu308Ile) c.*611C>A (n.*611C>A) c.1130C>A (n.1130C>A) c.1000C>A (p.Leu334Ile) c.923-2536C>A (n.923-2536C>A) c.1006C>A (p.Leu336Ile) c.1048C>A (p.Leu350Ile) c.589C>A (p.Leu197Ile) | gnomAD v4 |
5 | g.162149194C>G | CA362182476 | GABRG2 | c.1010C>G c.1129C>G (p.Leu377Val) c.1092C>G n.263C>G c.724C>G (p.Leu242Val) c.1009C>G (p.Leu337Val) c.886C>G c.400C>G (p.Leu134Val) c.937C>G (p.Leu313Val) c.*209C>G (n.*209C>G) c.943C>G (p.Leu315Val) n.307C>G n.3540C>G c.447C>G c.922C>G (p.Leu308Val) c.*611C>G (n.*611C>G) c.1130C>G (n.1130C>G) c.1000C>G (p.Leu334Val) c.923-2536C>G (n.923-2536C>G) c.1006C>G (p.Leu336Val) c.1048C>G (p.Leu350Val) c.589C>G (p.Leu197Val) | |
5 | g.162149194C>T | CA362182477 | GABRG2 | c.1010C>T c.1129C>T (p.Leu377Phe) c.1092C>T n.263C>T c.724C>T (p.Leu242Phe) c.1009C>T (p.Leu337Phe) c.886C>T c.400C>T (p.Leu134Phe) c.937C>T (p.Leu313Phe) c.*209C>T (n.*209C>T) c.943C>T (p.Leu315Phe) n.307C>T n.3540C>T c.447C>T c.922C>T (p.Leu308Phe) c.*611C>T (n.*611C>T) c.1130C>T (n.1130C>T) c.1000C>T (p.Leu334Phe) c.923-2536C>T (n.923-2536C>T) c.1006C>T (p.Leu336Phe) c.1048C>T (p.Leu350Phe) c.589C>T (p.Leu197Phe) | |
5 | g.162149195T>A | CA362182478 | GABRG2 | c.1011T>A c.1130T>A (p.Leu377His) c.1093T>A n.264T>A c.725T>A (p.Leu242His) c.1010T>A (p.Leu337His) c.887T>A c.401T>A (p.Leu134His) c.938T>A (p.Leu313His) c.*210T>A (n.*210T>A) c.944T>A (p.Leu315His) n.308T>A n.3541T>A c.448T>A c.923T>A (p.Leu308His) c.*612T>A (n.*612T>A) c.1131T>A (n.1131T>A) c.1001T>A (p.Leu334His) c.923-2535T>A (n.923-2535T>A) c.1007T>A (p.Leu336His) c.1049T>A (p.Leu350His) c.590T>A (p.Leu197His) | |
5 | g.162149195T>C | CA362182479 | GABRG2 | c.1011T>C c.1130T>C (p.Leu377Pro) c.1093T>C n.264T>C c.725T>C (p.Leu242Pro) c.1010T>C (p.Leu337Pro) c.887T>C c.401T>C (p.Leu134Pro) c.938T>C (p.Leu313Pro) c.*210T>C (n.*210T>C) c.944T>C (p.Leu315Pro) n.308T>C n.3541T>C c.448T>C c.923T>C (p.Leu308Pro) c.*612T>C (n.*612T>C) c.1131T>C (n.1131T>C) c.1001T>C (p.Leu334Pro) c.923-2535T>C (n.923-2535T>C) c.1007T>C (p.Leu336Pro) c.1049T>C (p.Leu350Pro) c.590T>C (p.Leu197Pro) | gnomAD v4 |
5 | g.162149195T>G | CA362182480 | GABRG2 | c.1011T>G c.1130T>G (p.Leu377Arg) c.1093T>G n.264T>G c.725T>G (p.Leu242Arg) c.1010T>G (p.Leu337Arg) c.887T>G c.401T>G (p.Leu134Arg) c.938T>G (p.Leu313Arg) c.*210T>G (n.*210T>G) c.944T>G (p.Leu315Arg) n.308T>G n.3541T>G c.448T>G c.923T>G (p.Leu308Arg) c.*612T>G (n.*612T>G) c.1131T>G (n.1131T>G) c.1001T>G (p.Leu334Arg) c.923-2535T>G (n.923-2535T>G) c.1007T>G (p.Leu336Arg) c.1049T>G (p.Leu350Arg) c.590T>G (p.Leu197Arg) | ClinVar dbSNP |
5 | g.162149195T= | CA1596380260 | GABRG2 | c.1011T= c.1130T= (p.Leu377=) c.1093T= n.264T= c.725T= (p.Leu242=) c.1010T= (p.Leu337=) c.887T= c.401T= (p.Leu134=) c.938T= (p.Leu313=) c.*210T= (n.*210T=) c.944T= (p.Leu315=) n.308T= n.3541T= c.448T= c.923T= (p.Leu308=) c.*612T= (n.*612T=) c.1131T= (n.1131T=) c.1001T= (p.Leu334=) c.923-2535T= (n.923-2535T=) c.1007T= (p.Leu336=) c.1049T= (p.Leu350=) c.590T= (p.Leu197=) | |
5 | g.162149196C>A | CA447610282 | GABRG2 | c.1012C>A c.1131C>A (p.Leu377=) c.1094C>A n.265C>A c.726C>A (p.Leu242=) c.1011C>A (p.Leu337=) c.888C>A c.402C>A (p.Leu134=) c.939C>A (p.Leu313=) c.*211C>A (n.*211C>A) c.945C>A (p.Leu315=) n.309C>A n.3542C>A c.449C>A c.924C>A (p.Leu308=) c.*613C>A (n.*613C>A) c.1132C>A (n.1132C>A) c.1002C>A (p.Leu334=) c.923-2534C>A (n.923-2534C>A) c.1008C>A (p.Leu336=) c.1050C>A (p.Leu350=) c.591C>A (p.Leu197=) | |
5 | g.162149196C>G | CA447610281 | GABRG2 | c.1012C>G c.1131C>G (p.Leu377=) c.1094C>G n.265C>G c.726C>G (p.Leu242=) c.1011C>G (p.Leu337=) c.888C>G c.402C>G (p.Leu134=) c.939C>G (p.Leu313=) c.*211C>G (n.*211C>G) c.945C>G (p.Leu315=) n.309C>G n.3542C>G c.449C>G c.924C>G (p.Leu308=) c.*613C>G (n.*613C>G) c.1132C>G (n.1132C>G) c.1002C>G (p.Leu334=) c.923-2534C>G (n.923-2534C>G) c.1008C>G (p.Leu336=) c.1050C>G (p.Leu350=) c.591C>G (p.Leu197=) | |
5 | g.162149196C>T | CA447610280 | GABRG2 | c.1012C>T c.1131C>T (p.Leu377=) c.1094C>T n.265C>T c.726C>T (p.Leu242=) c.1011C>T (p.Leu337=) c.888C>T c.402C>T (p.Leu134=) c.939C>T (p.Leu313=) c.*211C>T (n.*211C>T) c.945C>T (p.Leu315=) n.309C>T n.3542C>T c.449C>T c.924C>T (p.Leu308=) c.*613C>T (n.*613C>T) c.1132C>T (n.1132C>T) c.1002C>T (p.Leu334=) c.923-2534C>T (n.923-2534C>T) c.1008C>T (p.Leu336=) c.1050C>T (p.Leu350=) c.591C>T (p.Leu197=) | gnomAD v3 gnomAD v4 |
5 | g.162149197T>A | CA362182481 | GABRG2 | c.1013T>A c.1132T>A (p.Phe378Ile) c.1095T>A n.266T>A c.727T>A (p.Phe243Ile) c.1012T>A (p.Phe338Ile) c.889T>A c.403T>A (p.Phe135Ile) c.940T>A (p.Phe314Ile) c.*212T>A (n.*212T>A) c.946T>A (p.Phe316Ile) n.310T>A n.3543T>A c.450T>A c.925T>A (p.Phe309Ile) c.*614T>A (n.*614T>A) c.1133T>A (n.1133T>A) c.1003T>A (p.Phe335Ile) c.923-2533T>A (n.923-2533T>A) c.1009T>A (p.Phe337Ile) c.1051T>A (p.Phe351Ile) c.592T>A (p.Phe198Ile) | |
5 | g.162149197T>C | CA362182482 | GABRG2 | c.1013T>C c.1132T>C (p.Phe378Leu) c.1095T>C n.266T>C c.727T>C (p.Phe243Leu) c.1012T>C (p.Phe338Leu) c.889T>C c.403T>C (p.Phe135Leu) c.940T>C (p.Phe314Leu) c.*212T>C (n.*212T>C) c.946T>C (p.Phe316Leu) n.310T>C n.3543T>C c.450T>C c.925T>C (p.Phe309Leu) c.*614T>C (n.*614T>C) c.1133T>C (n.1133T>C) c.1003T>C (p.Phe335Leu) c.923-2533T>C (n.923-2533T>C) c.1009T>C (p.Phe337Leu) c.1051T>C (p.Phe351Leu) c.592T>C (p.Phe198Leu) | ClinVar dbSNP |
5 | g.162149197T>G | CA362182483 | GABRG2 | c.1013T>G c.1132T>G (p.Phe378Val) c.1095T>G n.266T>G c.727T>G (p.Phe243Val) c.1012T>G (p.Phe338Val) c.889T>G c.403T>G (p.Phe135Val) c.940T>G (p.Phe314Val) c.*212T>G (n.*212T>G) c.946T>G (p.Phe316Val) n.310T>G n.3543T>G c.450T>G c.925T>G (p.Phe309Val) c.*614T>G (n.*614T>G) c.1133T>G (n.1133T>G) c.1003T>G (p.Phe335Val) c.923-2533T>G (n.923-2533T>G) c.1009T>G (p.Phe337Val) c.1051T>G (p.Phe351Val) c.592T>G (p.Phe198Val) | |
5 | g.162149197T= | CA1596380261 | GABRG2 | c.1013T= c.1132T= (p.Phe378=) c.1095T= n.266T= c.727T= (p.Phe243=) c.1012T= (p.Phe338=) c.889T= c.403T= (p.Phe135=) c.940T= (p.Phe314=) c.*212T= (n.*212T=) c.946T= (p.Phe316=) n.310T= n.3543T= c.450T= c.925T= (p.Phe309=) c.*614T= (n.*614T=) c.1133T= (n.1133T=) c.1003T= (p.Phe335=) c.923-2533T= (n.923-2533T=) c.1009T= (p.Phe337=) c.1051T= (p.Phe351=) c.592T= (p.Phe198=) | |
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) | |
5 | g.162149212T>C | CA362182517 | GABRG2 | c.1028T>C c.1147T>C (p.Phe383Leu) c.1110T>C n.281T>C c.742T>C (p.Phe248Leu) c.1027T>C (p.Phe343Leu) c.904T>C c.418T>C (p.Phe140Leu) c.955T>C (p.Phe319Leu) c.*227T>C (n.*227T>C) c.961T>C (p.Phe321Leu) n.325T>C n.3558T>C c.465T>C c.940T>C (p.Phe314Leu) c.*629T>C (n.*629T>C) c.1148T>C (n.1148T>C) c.1018T>C (p.Phe340Leu) c.923-2518T>C (n.923-2518T>C) c.1024T>C (p.Phe342Leu) c.1066T>C (p.Phe356Leu) c.607T>C (p.Phe203Leu) | ClinVar dbSNP |
5 | g.162149212T>G | CA362182516 | GABRG2 | c.1028T>G c.1147T>G (p.Phe383Val) c.1110T>G n.281T>G c.742T>G (p.Phe248Val) c.1027T>G (p.Phe343Val) c.904T>G c.418T>G (p.Phe140Val) c.955T>G (p.Phe319Val) c.*227T>G (n.*227T>G) c.961T>G (p.Phe321Val) n.325T>G n.3558T>G c.465T>G c.940T>G (p.Phe314Val) c.*629T>G (n.*629T>G) c.1148T>G (n.1148T>G) c.1018T>G (p.Phe340Val) c.923-2518T>G (n.923-2518T>G) c.1024T>G (p.Phe342Val) c.1066T>G (p.Phe356Val) c.607T>G (p.Phe203Val) | |
5 | g.162149212T= | CA1596380267 | GABRG2 | c.1028T= c.1147T= (p.Phe383=) c.1110T= n.281T= c.742T= (p.Phe248=) c.1027T= (p.Phe343=) c.904T= c.418T= (p.Phe140=) c.955T= (p.Phe319=) c.*227T= (n.*227T=) c.961T= (p.Phe321=) n.325T= n.3558T= c.465T= c.940T= (p.Phe314=) c.*629T= (n.*629T=) c.1148T= (n.1148T=) c.1018T= (p.Phe340=) c.923-2518T= (n.923-2518T=) c.1024T= (p.Phe342=) c.1066T= (p.Phe356=) c.607T= (p.Phe203=) | |
5 | g.162149213T>A | CA362182518 | GABRG2 | c.1029T>A c.1148T>A (p.Phe383Tyr) c.1111T>A n.282T>A c.743T>A (p.Phe248Tyr) c.1028T>A (p.Phe343Tyr) c.905T>A c.419T>A (p.Phe140Tyr) c.956T>A (p.Phe319Tyr) c.*228T>A (n.*228T>A) c.962T>A (p.Phe321Tyr) n.326T>A n.3559T>A c.466T>A c.941T>A (p.Phe314Tyr) c.*630T>A (n.*630T>A) c.1149T>A (n.1149T>A) c.1019T>A (p.Phe340Tyr) c.923-2517T>A (n.923-2517T>A) c.1025T>A (p.Phe342Tyr) c.1067T>A (p.Phe356Tyr) c.608T>A (p.Phe203Tyr) | |
5 | g.162149213T>C | CA362182519 | GABRG2 | c.1029T>C c.1148T>C (p.Phe383Ser) c.1111T>C n.282T>C c.743T>C (p.Phe248Ser) c.1028T>C (p.Phe343Ser) c.905T>C c.419T>C (p.Phe140Ser) c.956T>C (p.Phe319Ser) c.*228T>C (n.*228T>C) c.962T>C (p.Phe321Ser) n.326T>C n.3559T>C c.466T>C c.941T>C (p.Phe314Ser) c.*630T>C (n.*630T>C) c.1149T>C (n.1149T>C) c.1019T>C (p.Phe340Ser) c.923-2517T>C (n.923-2517T>C) c.1025T>C (p.Phe342Ser) c.1067T>C (p.Phe356Ser) c.608T>C (p.Phe203Ser) | |
5 | g.162149213T>G | CA362182520 | GABRG2 | c.1029T>G c.1148T>G (p.Phe383Cys) c.1111T>G n.282T>G c.743T>G (p.Phe248Cys) c.1028T>G (p.Phe343Cys) c.905T>G c.419T>G (p.Phe140Cys) c.956T>G (p.Phe319Cys) c.*228T>G (n.*228T>G) c.962T>G (p.Phe321Cys) n.326T>G n.3559T>G c.466T>G c.941T>G (p.Phe314Cys) c.*630T>G (n.*630T>G) c.1149T>G (n.1149T>G) c.1019T>G (p.Phe340Cys) c.923-2517T>G (n.923-2517T>G) c.1025T>G (p.Phe342Cys) c.1067T>G (p.Phe356Cys) c.608T>G (p.Phe203Cys) | |
5 | g.162149214C>A | CA362182521 | GABRG2 | c.1030C>A c.1149C>A (p.Phe383Leu) c.1112C>A n.283C>A c.744C>A (p.Phe248Leu) c.1029C>A (p.Phe343Leu) c.906C>A c.420C>A (p.Phe140Leu) c.957C>A (p.Phe319Leu) c.*229C>A (n.*229C>A) c.963C>A (p.Phe321Leu) n.327C>A n.3560C>A c.467C>A c.942C>A (p.Phe314Leu) c.*631C>A (n.*631C>A) c.1150C>A (n.1150C>A) c.1020C>A (p.Phe340Leu) c.923-2516C>A (n.923-2516C>A) c.1026C>A (p.Phe342Leu) c.1068C>A (p.Phe356Leu) c.609C>A (p.Phe203Leu) | ClinVar dbSNP |
5 | g.162149214C= | CA1596380268 | GABRG2 | c.1030C= c.1149C= (p.Phe383=) c.1112C= n.283C= c.744C= (p.Phe248=) c.1029C= (p.Phe343=) c.906C= c.420C= (p.Phe140=) c.957C= (p.Phe319=) c.*229C= (n.*229C=) c.963C= (p.Phe321=) n.327C= n.3560C= c.467C= c.942C= (p.Phe314=) c.*631C= (n.*631C=) c.1150C= (n.1150C=) c.1020C= (p.Phe340=) c.923-2516C= (n.923-2516C=) c.1026C= (p.Phe342=) c.1068C= (p.Phe356=) c.609C= (p.Phe203=) | |
5 | g.162149214C>G | CA314738 | GABRG2 | c.1030C>G c.1149C>G (p.Phe383Leu) c.1112C>G n.283C>G c.744C>G (p.Phe248Leu) c.1029C>G (p.Phe343Leu) c.906C>G c.420C>G (p.Phe140Leu) c.957C>G (p.Phe319Leu) c.*229C>G (n.*229C>G) c.963C>G (p.Phe321Leu) n.327C>G n.3560C>G c.467C>G c.942C>G (p.Phe314Leu) c.*631C>G (n.*631C>G) c.1150C>G (n.1150C>G) c.1020C>G (p.Phe340Leu) c.923-2516C>G (n.923-2516C>G) c.1026C>G (p.Phe342Leu) c.1068C>G (p.Phe356Leu) c.609C>G (p.Phe203Leu) | ClinVar dbSNP |
5 | g.162149214C>T | CA447610293 | GABRG2 | c.1030C>T c.1149C>T (p.Phe383=) c.1112C>T n.283C>T c.744C>T (p.Phe248=) c.1029C>T (p.Phe343=) c.906C>T c.420C>T (p.Phe140=) c.957C>T (p.Phe319=) c.*229C>T (n.*229C>T) c.963C>T (p.Phe321=) n.327C>T n.3560C>T c.467C>T c.942C>T (p.Phe314=) c.*631C>T (n.*631C>T) c.1150C>T (n.1150C>T) c.1020C>T (p.Phe340=) c.923-2516C>T (n.923-2516C>T) c.1026C>T (p.Phe342=) c.1068C>T (p.Phe356=) c.609C>T (p.Phe203=) | |
5 | g.162149215A>C | CA362182522 | GABRG2 | c.1031A>C c.1150A>C (p.Ile384Leu) c.1113A>C n.284A>C c.745A>C (p.Ile249Leu) c.1030A>C (p.Ile344Leu) c.907A>C c.421A>C (p.Ile141Leu) c.958A>C (p.Ile320Leu) c.*230A>C (n.*230A>C) c.964A>C (p.Ile322Leu) n.328A>C n.3561A>C c.468A>C c.943A>C (p.Ile315Leu) c.*632A>C (n.*632A>C) c.1151A>C (n.1151A>C) c.1021A>C (p.Ile341Leu) c.923-2515A>C (n.923-2515A>C) c.1027A>C (p.Ile343Leu) c.1069A>C (p.Ile357Leu) c.610A>C (p.Ile204Leu) | |
5 | g.162149215A>G | CA362182523 | GABRG2 | c.1031A>G c.1150A>G (p.Ile384Val) c.1113A>G n.284A>G c.745A>G (p.Ile249Val) c.1030A>G (p.Ile344Val) c.907A>G c.421A>G (p.Ile141Val) c.958A>G (p.Ile320Val) c.*230A>G (n.*230A>G) c.964A>G (p.Ile322Val) n.328A>G n.3561A>G c.468A>G c.943A>G (p.Ile315Val) c.*632A>G (n.*632A>G) c.1151A>G (n.1151A>G) c.1021A>G (p.Ile341Val) c.923-2515A>G (n.923-2515A>G) c.1027A>G (p.Ile343Val) c.1069A>G (p.Ile357Val) c.610A>G (p.Ile204Val) | |
5 | g.162149215A>T | CA362182524 | GABRG2 | c.1031A>T c.1150A>T (p.Ile384Phe) c.1113A>T n.284A>T c.745A>T (p.Ile249Phe) c.1030A>T (p.Ile344Phe) c.907A>T c.421A>T (p.Ile141Phe) c.958A>T (p.Ile320Phe) c.*230A>T (n.*230A>T) c.964A>T (p.Ile322Phe) n.328A>T n.3561A>T c.468A>T c.943A>T (p.Ile315Phe) c.*632A>T (n.*632A>T) c.1151A>T (n.1151A>T) c.1021A>T (p.Ile341Phe) c.923-2515A>T (n.923-2515A>T) c.1027A>T (p.Ile343Phe) c.1069A>T (p.Ile357Phe) c.610A>T (p.Ile204Phe) | |
5 | g.162149216T>A | CA362182525 | GABRG2 | c.1032T>A c.1151T>A (p.Ile384Asn) c.1114T>A n.285T>A c.746T>A (p.Ile249Asn) c.1031T>A (p.Ile344Asn) c.908T>A c.422T>A (p.Ile141Asn) c.959T>A (p.Ile320Asn) c.*231T>A (n.*231T>A) c.965T>A (p.Ile322Asn) n.329T>A n.3562T>A c.469T>A c.944T>A (p.Ile315Asn) c.*633T>A (n.*633T>A) c.1152T>A (n.1152T>A) c.1022T>A (p.Ile341Asn) c.923-2514T>A (n.923-2514T>A) c.1028T>A (p.Ile343Asn) c.1070T>A (p.Ile357Asn) c.611T>A (p.Ile204Asn) | |
5 | g.162149216T>C | CA362182526 | GABRG2 | c.1032T>C c.1151T>C (p.Ile384Thr) c.1114T>C n.285T>C c.746T>C (p.Ile249Thr) c.1031T>C (p.Ile344Thr) c.908T>C c.422T>C (p.Ile141Thr) c.959T>C (p.Ile320Thr) c.*231T>C (n.*231T>C) c.965T>C (p.Ile322Thr) n.329T>C n.3562T>C c.469T>C c.944T>C (p.Ile315Thr) c.*633T>C (n.*633T>C) c.1152T>C (n.1152T>C) c.1022T>C (p.Ile341Thr) c.923-2514T>C (n.923-2514T>C) c.1028T>C (p.Ile343Thr) c.1070T>C (p.Ile357Thr) c.611T>C (p.Ile204Thr) | |
5 | g.162149216T>G | CA362182527 | GABRG2 | c.1032T>G c.1151T>G (p.Ile384Ser) c.1114T>G n.285T>G c.746T>G (p.Ile249Ser) c.1031T>G (p.Ile344Ser) c.908T>G c.422T>G (p.Ile141Ser) c.959T>G (p.Ile320Ser) c.*231T>G (n.*231T>G) c.965T>G (p.Ile322Ser) n.329T>G n.3562T>G c.469T>G c.944T>G (p.Ile315Ser) c.*633T>G (n.*633T>G) c.1152T>G (n.1152T>G) c.1022T>G (p.Ile341Ser) c.923-2514T>G (n.923-2514T>G) c.1028T>G (p.Ile343Ser) c.1070T>G (p.Ile357Ser) c.611T>G (p.Ile204Ser) | |
5 | g.162149217C>A | CA447610294 | GABRG2 | c.1033C>A c.1152C>A (p.Ile384=) c.1115C>A n.286C>A c.747C>A (p.Ile249=) c.1032C>A (p.Ile344=) c.909C>A c.423C>A (p.Ile141=) c.960C>A (p.Ile320=) c.*232C>A (n.*232C>A) c.966C>A (p.Ile322=) n.330C>A n.3563C>A c.470C>A c.945C>A (p.Ile315=) c.*634C>A (n.*634C>A) c.1153C>A (n.1153C>A) c.1023C>A (p.Ile341=) c.923-2513C>A (n.923-2513C>A) c.1029C>A (p.Ile343=) c.1071C>A (p.Ile357=) c.612C>A (p.Ile204=) | |
5 | g.162149217C>G | CA362182528 | GABRG2 | c.1033C>G c.1152C>G (p.Ile384Met) c.1115C>G n.286C>G c.747C>G (p.Ile249Met) c.1032C>G (p.Ile344Met) c.909C>G c.423C>G (p.Ile141Met) c.960C>G (p.Ile320Met) c.*232C>G (n.*232C>G) c.966C>G (p.Ile322Met) n.330C>G n.3563C>G c.470C>G c.945C>G (p.Ile315Met) c.*634C>G (n.*634C>G) c.1153C>G (n.1153C>G) c.1023C>G (p.Ile341Met) c.923-2513C>G (n.923-2513C>G) c.1029C>G (p.Ile343Met) c.1071C>G (p.Ile357Met) c.612C>G (p.Ile204Met) | COSMIC |
5 | g.162149217C>T | CA447610295 | GABRG2 | c.1033C>T c.1152C>T (p.Ile384=) c.1115C>T n.286C>T c.747C>T (p.Ile249=) c.1032C>T (p.Ile344=) c.909C>T c.423C>T (p.Ile141=) c.960C>T (p.Ile320=) c.*232C>T (n.*232C>T) c.966C>T (p.Ile322=) n.330C>T n.3563C>T c.470C>T c.945C>T (p.Ile315=) c.*634C>T (n.*634C>T) c.1153C>T (n.1153C>T) c.1023C>T (p.Ile341=) c.923-2513C>T (n.923-2513C>T) c.1029C>T (p.Ile343=) c.1071C>T (p.Ile357=) c.612C>T (p.Ile204=) | |
5 | g.162149217_162149218delinsCT | CA1596380269 | GABRG2 | c.1033_1034delinsCT c.1152_1153delinsCT (p.Ile384=) c.1115_1116delinsCT n.286_287delinsCT c.747_748delinsCT (p.Ile249=) c.1032_1033delinsCT (p.Ile344=) c.909_910delinsCT c.423_424delinsCT (p.Ile141=) c.960_961delinsCT (p.Ile320=) c.*232_*233delinsCT (n.*232_*233delinsCT) c.966_967delinsCT (p.Ile322=) n.330_331delinsCT n.3563_3564delinsCT c.470_471delinsCT c.945_946delinsCT (p.Ile315=) c.*634_*635delinsCT (n.*634_*635delinsCT) c.1153_1154delinsCT (n.1153_1154delinsCT) c.1023_1024delinsCT (p.Ile341=) c.923-2513_923-2512delinsCT (n.923-2513_923-2512delinsCT) c.1029_1030delinsCT (p.Ile343=) c.1071_1072delinsCT (p.Ile357=) c.612_613delinsCT (p.Ile204=) | |
5 | g.162149218T>A | CA362182531 | GABRG2 | c.1034T>A c.1153T>A (p.Phe385Ile) c.1116T>A n.287T>A c.748T>A (p.Phe250Ile) c.1033T>A (p.Phe345Ile) c.910T>A c.424T>A (p.Phe142Ile) c.961T>A (p.Phe321Ile) c.*233T>A (n.*233T>A) c.967T>A (p.Phe323Ile) n.331T>A n.3564T>A c.471T>A c.946T>A (p.Phe316Ile) c.*635T>A (n.*635T>A) c.1154T>A (n.1154T>A) c.1024T>A (p.Phe342Ile) c.923-2512T>A (n.923-2512T>A) c.1030T>A (p.Phe344Ile) c.1072T>A (p.Phe358Ile) c.613T>A (p.Phe205Ile) | |
5 | g.162149218T>C | CA362182529 | GABRG2 | c.1034T>C c.1153T>C (p.Phe385Leu) c.1116T>C n.287T>C c.748T>C (p.Phe250Leu) c.1033T>C (p.Phe345Leu) c.910T>C c.424T>C (p.Phe142Leu) c.961T>C (p.Phe321Leu) c.*233T>C (n.*233T>C) c.967T>C (p.Phe323Leu) n.331T>C n.3564T>C c.471T>C c.946T>C (p.Phe316Leu) c.*635T>C (n.*635T>C) c.1154T>C (n.1154T>C) c.1024T>C (p.Phe342Leu) c.923-2512T>C (n.923-2512T>C) c.1030T>C (p.Phe344Leu) c.1072T>C (p.Phe358Leu) c.613T>C (p.Phe205Leu) | |
5 | g.162149218T>G | CA362182530 | GABRG2 | c.1034T>G c.1153T>G (p.Phe385Val) c.1116T>G n.287T>G c.748T>G (p.Phe250Val) c.1033T>G (p.Phe345Val) c.910T>G c.424T>G (p.Phe142Val) c.961T>G (p.Phe321Val) c.*233T>G (n.*233T>G) c.967T>G (p.Phe323Val) n.331T>G n.3564T>G c.471T>G c.946T>G (p.Phe316Val) c.*635T>G (n.*635T>G) c.1154T>G (n.1154T>G) c.1024T>G (p.Phe342Val) c.923-2512T>G (n.923-2512T>G) c.1030T>G (p.Phe344Val) c.1072T>G (p.Phe358Val) c.613T>G (p.Phe205Val) | |
5 | g.162149220dup | CA2676329345 | GABRG2 | c.1036dup c.1155dup (p.Val386CysfsTer26) c.1118dup n.289dup c.750dup (p.Val251CysfsTer26) c.1035dup (p.Val346CysfsTer26) c.912dup c.426dup (p.Val143CysfsTer26) c.963dup (p.Val322CysfsTer26) c.*235dup (n.*235dup) c.969dup (p.Val324CysfsTer26) n.333dup n.3566dup c.473dup c.948dup (p.Val317CysfsTer26) c.*637dup (n.*637dup) c.1156dup (n.1156dup) c.1026dup (p.Val343CysfsTer26) c.923-2510dup (n.923-2510dup) c.1032dup (p.Val345CysfsTer26) c.1074dup (p.Val359CysfsTer26) c.615dup (p.Val206CysfsTer26) | gnomAD v4 |
5 | g.162149220del | CA915942711 | GABRG2 | c.1036del c.1155del (p.Phe385LeufsTer?) c.1118del n.289del c.750del (p.Phe250LeufsTer?) c.1035del (p.Phe345LeufsTer?) c.912del c.426del (p.Phe142LeufsTer?) c.963del (p.Phe321LeufsTer?) c.*235del (n.*235del) c.969del (p.Phe323LeufsTer?) n.333del n.3566del c.473del c.948del (p.Phe316LeufsTer?) c.*637del (n.*637del) c.1156del (n.1156del) c.1026del (p.Phe342LeufsTer?) c.923-2510del (n.923-2510del) c.1032del (p.Phe344LeufsTer?) c.1074del (p.Phe358LeufsTer?) c.615del (p.Phe205LeufsTer?) | ClinVar dbSNP |
5 | g.162149219T>A | CA362182532 | GABRG2 | c.1035T>A c.1154T>A (p.Phe385Tyr) c.1117T>A n.288T>A c.749T>A (p.Phe250Tyr) c.1034T>A (p.Phe345Tyr) c.911T>A c.425T>A (p.Phe142Tyr) c.962T>A (p.Phe321Tyr) c.*234T>A (n.*234T>A) c.968T>A (p.Phe323Tyr) n.332T>A n.3565T>A c.472T>A c.947T>A (p.Phe316Tyr) c.*636T>A (n.*636T>A) c.1155T>A (n.1155T>A) c.1025T>A (p.Phe342Tyr) c.923-2511T>A (n.923-2511T>A) c.1031T>A (p.Phe344Tyr) c.1073T>A (p.Phe358Tyr) c.614T>A (p.Phe205Tyr) | |
5 | g.162149219T>C | CA362182533 | GABRG2 | c.1035T>C c.1154T>C (p.Phe385Ser) c.1117T>C n.288T>C c.749T>C (p.Phe250Ser) c.1034T>C (p.Phe345Ser) c.911T>C c.425T>C (p.Phe142Ser) c.962T>C (p.Phe321Ser) c.*234T>C (n.*234T>C) c.968T>C (p.Phe323Ser) n.332T>C n.3565T>C c.472T>C c.947T>C (p.Phe316Ser) c.*636T>C (n.*636T>C) c.1155T>C (n.1155T>C) c.1025T>C (p.Phe342Ser) c.923-2511T>C (n.923-2511T>C) c.1031T>C (p.Phe344Ser) c.1073T>C (p.Phe358Ser) c.614T>C (p.Phe205Ser) | |
5 | g.162149219T>G | CA362182534 | GABRG2 | c.1035T>G c.1154T>G (p.Phe385Cys) c.1117T>G n.288T>G c.749T>G (p.Phe250Cys) c.1034T>G (p.Phe345Cys) c.911T>G c.425T>G (p.Phe142Cys) c.962T>G (p.Phe321Cys) c.*234T>G (n.*234T>G) c.968T>G (p.Phe323Cys) n.332T>G n.3565T>G c.472T>G c.947T>G (p.Phe316Cys) c.*636T>G (n.*636T>G) c.1155T>G (n.1155T>G) c.1025T>G (p.Phe342Cys) c.923-2511T>G (n.923-2511T>G) c.1031T>G (p.Phe344Cys) c.1073T>G (p.Phe358Cys) c.614T>G (p.Phe205Cys) | |
5 | g.162149220T>A | CA362182535 | GABRG2 | c.1036T>A c.1155T>A (p.Phe385Leu) c.1118T>A n.289T>A c.750T>A (p.Phe250Leu) c.1035T>A (p.Phe345Leu) c.912T>A c.426T>A (p.Phe142Leu) c.963T>A (p.Phe321Leu) c.*235T>A (n.*235T>A) c.969T>A (p.Phe323Leu) n.333T>A n.3566T>A c.473T>A c.948T>A (p.Phe316Leu) c.*637T>A (n.*637T>A) c.1156T>A (n.1156T>A) c.1026T>A (p.Phe342Leu) c.923-2510T>A (n.923-2510T>A) c.1032T>A (p.Phe344Leu) c.1074T>A (p.Phe358Leu) c.615T>A (p.Phe205Leu) | |
5 | g.162149220T>C | CA447610296 | GABRG2 | c.1036T>C c.1155T>C (p.Phe385=) c.1118T>C n.289T>C c.750T>C (p.Phe250=) c.1035T>C (p.Phe345=) c.912T>C c.426T>C (p.Phe142=) c.963T>C (p.Phe321=) c.*235T>C (n.*235T>C) c.969T>C (p.Phe323=) n.333T>C n.3566T>C c.473T>C c.948T>C (p.Phe316=) c.*637T>C (n.*637T>C) c.1156T>C (n.1156T>C) c.1026T>C (p.Phe342=) c.923-2510T>C (n.923-2510T>C) c.1032T>C (p.Phe344=) c.1074T>C (p.Phe358=) c.615T>C (p.Phe205=) | |
5 | g.162149220T>G | CA362182536 | GABRG2 | c.1036T>G c.1155T>G (p.Phe385Leu) c.1118T>G n.289T>G c.750T>G (p.Phe250Leu) c.1035T>G (p.Phe345Leu) c.912T>G c.426T>G (p.Phe142Leu) c.963T>G (p.Phe321Leu) c.*235T>G (n.*235T>G) c.969T>G (p.Phe323Leu) n.333T>G n.3566T>G c.473T>G c.948T>G (p.Phe316Leu) c.*637T>G (n.*637T>G) c.1156T>G (n.1156T>G) c.1026T>G (p.Phe342Leu) c.923-2510T>G (n.923-2510T>G) c.1032T>G (p.Phe344Leu) c.1074T>G (p.Phe358Leu) c.615T>G (p.Phe205Leu) | |
5 | g.162149221G>A | CA362182537 | GABRG2 | c.1037G>A c.1156G>A (p.Val386Ile) c.1119G>A n.290G>A c.751G>A (p.Val251Ile) c.1036G>A (p.Val346Ile) c.913G>A c.427G>A (p.Val143Ile) c.964G>A (p.Val322Ile) c.*236G>A (n.*236G>A) c.970G>A (p.Val324Ile) n.334G>A n.3567G>A c.474G>A c.949G>A (p.Val317Ile) c.*638G>A (n.*638G>A) c.1157G>A (n.1157G>A) c.1027G>A (p.Val343Ile) c.923-2509G>A (n.923-2509G>A) c.1033G>A (p.Val345Ile) c.1075G>A (p.Val359Ile) c.616G>A (p.Val206Ile) | |
5 | g.162149221G>C | CA362182538 | GABRG2 | c.1037G>C c.1156G>C (p.Val386Leu) c.1119G>C n.290G>C c.751G>C (p.Val251Leu) c.1036G>C (p.Val346Leu) c.913G>C c.427G>C (p.Val143Leu) c.964G>C (p.Val322Leu) c.*236G>C (n.*236G>C) c.970G>C (p.Val324Leu) n.334G>C n.3567G>C c.474G>C c.949G>C (p.Val317Leu) c.*638G>C (n.*638G>C) c.1157G>C (n.1157G>C) c.1027G>C (p.Val343Leu) c.923-2509G>C (n.923-2509G>C) c.1033G>C (p.Val345Leu) c.1075G>C (p.Val359Leu) c.616G>C (p.Val206Leu) | |
5 | g.162149221G>T | CA362182539 | GABRG2 | c.1037G>T c.1156G>T (p.Val386Phe) c.1119G>T n.290G>T c.751G>T (p.Val251Phe) c.1036G>T (p.Val346Phe) c.913G>T c.427G>T (p.Val143Phe) c.964G>T (p.Val322Phe) c.*236G>T (n.*236G>T) c.970G>T (p.Val324Phe) n.334G>T n.3567G>T c.474G>T c.949G>T (p.Val317Phe) c.*638G>T (n.*638G>T) c.1157G>T (n.1157G>T) c.1027G>T (p.Val343Phe) c.923-2509G>T (n.923-2509G>T) c.1033G>T (p.Val345Phe) c.1075G>T (p.Val359Phe) c.616G>T (p.Val206Phe) | ClinVar |
5 | g.162149222T>A | CA362182540 | GABRG2 | c.1038T>A c.1157T>A (p.Val386Asp) c.1120T>A n.291T>A c.752T>A (p.Val251Asp) c.1037T>A (p.Val346Asp) c.914T>A c.428T>A (p.Val143Asp) c.965T>A (p.Val322Asp) c.*237T>A (n.*237T>A) c.971T>A (p.Val324Asp) n.335T>A n.3568T>A c.475T>A c.950T>A (p.Val317Asp) c.*639T>A (n.*639T>A) c.1158T>A (n.1158T>A) c.1028T>A (p.Val343Asp) c.923-2508T>A (n.923-2508T>A) c.1034T>A (p.Val345Asp) c.1076T>A (p.Val359Asp) c.617T>A (p.Val206Asp) | |
5 | g.162149222T>C | CA362182541 | GABRG2 | c.1038T>C c.1157T>C (p.Val386Ala) c.1120T>C n.291T>C c.752T>C (p.Val251Ala) c.1037T>C (p.Val346Ala) c.914T>C c.428T>C (p.Val143Ala) c.965T>C (p.Val322Ala) c.*237T>C (n.*237T>C) c.971T>C (p.Val324Ala) n.335T>C n.3568T>C c.475T>C c.950T>C (p.Val317Ala) c.*639T>C (n.*639T>C) c.1158T>C (n.1158T>C) c.1028T>C (p.Val343Ala) c.923-2508T>C (n.923-2508T>C) c.1034T>C (p.Val345Ala) c.1076T>C (p.Val359Ala) c.617T>C (p.Val206Ala) | |
5 | g.162149222T>G | CA362182542 | GABRG2 | c.1038T>G c.1157T>G (p.Val386Gly) c.1120T>G n.291T>G c.752T>G (p.Val251Gly) c.1037T>G (p.Val346Gly) c.914T>G c.428T>G (p.Val143Gly) c.965T>G (p.Val322Gly) c.*237T>G (n.*237T>G) c.971T>G (p.Val324Gly) n.335T>G n.3568T>G c.475T>G c.950T>G (p.Val317Gly) c.*639T>G (n.*639T>G) c.1158T>G (n.1158T>G) c.1028T>G (p.Val343Gly) c.923-2508T>G (n.923-2508T>G) c.1034T>G (p.Val345Gly) c.1076T>G (p.Val359Gly) c.617T>G (p.Val206Gly) | ClinVar |
5 | g.162149223C>A | CA447610297 | GABRG2 | c.1039C>A c.1158C>A (p.Val386=) c.1121C>A n.292C>A c.753C>A (p.Val251=) c.1038C>A (p.Val346=) c.915C>A c.429C>A (p.Val143=) c.966C>A (p.Val322=) c.*238C>A (n.*238C>A) c.972C>A (p.Val324=) n.336C>A n.3569C>A c.476C>A c.951C>A (p.Val317=) c.*640C>A (n.*640C>A) c.1159C>A (n.1159C>A) c.1029C>A (p.Val343=) c.923-2507C>A (n.923-2507C>A) c.1035C>A (p.Val345=) c.1077C>A (p.Val359=) c.618C>A (p.Val206=) | |
5 | g.162149223C>G | CA447610298 | GABRG2 | c.1039C>G c.1158C>G (p.Val386=) c.1121C>G n.292C>G c.753C>G (p.Val251=) c.1038C>G (p.Val346=) c.915C>G c.429C>G (p.Val143=) c.966C>G (p.Val322=) c.*238C>G (n.*238C>G) c.972C>G (p.Val324=) n.336C>G n.3569C>G c.476C>G c.951C>G (p.Val317=) c.*640C>G (n.*640C>G) c.1159C>G (n.1159C>G) c.1029C>G (p.Val343=) c.923-2507C>G (n.923-2507C>G) c.1035C>G (p.Val345=) c.1077C>G (p.Val359=) c.618C>G (p.Val206=) | |
5 | g.162149223C>T | CA447610299 | GABRG2 | c.1039C>T c.1158C>T (p.Val386=) c.1121C>T n.292C>T c.753C>T (p.Val251=) c.1038C>T (p.Val346=) c.915C>T c.429C>T (p.Val143=) c.966C>T (p.Val322=) c.*238C>T (n.*238C>T) c.972C>T (p.Val324=) n.336C>T n.3569C>T c.476C>T c.951C>T (p.Val317=) c.*640C>T (n.*640C>T) c.1159C>T (n.1159C>T) c.1029C>T (p.Val343=) c.923-2507C>T (n.923-2507C>T) c.1035C>T (p.Val345=) c.1077C>T (p.Val359=) c.618C>T (p.Val206=) | |
5 | g.162149224T>A | CA362182544 | GABRG2 | c.1040T>A c.1159T>A (p.Phe387Ile) c.1122T>A n.293T>A c.754T>A (p.Phe252Ile) c.1039T>A (p.Phe347Ile) c.916T>A c.430T>A (p.Phe144Ile) c.967T>A (p.Phe323Ile) c.*239T>A (n.*239T>A) c.973T>A (p.Phe325Ile) n.337T>A n.3570T>A c.477T>A c.952T>A (p.Phe318Ile) c.*641T>A (n.*641T>A) c.1160T>A (n.1160T>A) c.1030T>A (p.Phe344Ile) c.923-2506T>A (n.923-2506T>A) c.1036T>A (p.Phe346Ile) c.1078T>A (p.Phe360Ile) c.619T>A (p.Phe207Ile) | gnomAD v4 |
5 | g.162149224T>C | CA362182545 | GABRG2 | c.1040T>C c.1159T>C (p.Phe387Leu) c.1122T>C n.293T>C c.754T>C (p.Phe252Leu) c.1039T>C (p.Phe347Leu) c.916T>C c.430T>C (p.Phe144Leu) c.967T>C (p.Phe323Leu) c.*239T>C (n.*239T>C) c.973T>C (p.Phe325Leu) n.337T>C n.3570T>C c.477T>C c.952T>C (p.Phe318Leu) c.*641T>C (n.*641T>C) c.1160T>C (n.1160T>C) c.1030T>C (p.Phe344Leu) c.923-2506T>C (n.923-2506T>C) c.1036T>C (p.Phe346Leu) c.1078T>C (p.Phe360Leu) c.619T>C (p.Phe207Leu) | |
5 | g.162149224T>G | CA362182543 | GABRG2 | c.1040T>G c.1159T>G (p.Phe387Val) c.1122T>G n.293T>G c.754T>G (p.Phe252Val) c.1039T>G (p.Phe347Val) c.916T>G c.430T>G (p.Phe144Val) c.967T>G (p.Phe323Val) c.*239T>G (n.*239T>G) c.973T>G (p.Phe325Val) n.337T>G n.3570T>G c.477T>G c.952T>G (p.Phe318Val) c.*641T>G (n.*641T>G) c.1160T>G (n.1160T>G) c.1030T>G (p.Phe344Val) c.923-2506T>G (n.923-2506T>G) c.1036T>G (p.Phe346Val) c.1078T>G (p.Phe360Val) c.619T>G (p.Phe207Val) | COSMIC |
5 | g.162149225T>A | CA362182547 | GABRG2 | c.1041T>A c.1160T>A (p.Phe387Tyr) c.1123T>A n.294T>A c.755T>A (p.Phe252Tyr) c.1040T>A (p.Phe347Tyr) c.917T>A c.431T>A (p.Phe144Tyr) c.968T>A (p.Phe323Tyr) c.*240T>A (n.*240T>A) c.974T>A (p.Phe325Tyr) n.338T>A n.3571T>A c.478T>A c.953T>A (p.Phe318Tyr) c.*642T>A (n.*642T>A) c.1161T>A (n.1161T>A) c.1031T>A (p.Phe344Tyr) c.923-2505T>A (n.923-2505T>A) c.1037T>A (p.Phe346Tyr) c.1079T>A (p.Phe360Tyr) c.620T>A (p.Phe207Tyr) | |
5 | g.162149225T>C | CA362182546 | GABRG2 | c.1041T>C c.1160T>C (p.Phe387Ser) c.1123T>C n.294T>C c.755T>C (p.Phe252Ser) c.1040T>C (p.Phe347Ser) c.917T>C c.431T>C (p.Phe144Ser) c.968T>C (p.Phe323Ser) c.*240T>C (n.*240T>C) c.974T>C (p.Phe325Ser) n.338T>C n.3571T>C c.478T>C c.953T>C (p.Phe318Ser) c.*642T>C (n.*642T>C) c.1161T>C (n.1161T>C) c.1031T>C (p.Phe344Ser) c.923-2505T>C (n.923-2505T>C) c.1037T>C (p.Phe346Ser) c.1079T>C (p.Phe360Ser) c.620T>C (p.Phe207Ser) | |
5 | g.162149225T>G | CA362182548 | GABRG2 | c.1041T>G c.1160T>G (p.Phe387Cys) c.1123T>G n.294T>G c.755T>G (p.Phe252Cys) c.1040T>G (p.Phe347Cys) c.917T>G c.431T>G (p.Phe144Cys) c.968T>G (p.Phe323Cys) c.*240T>G (n.*240T>G) c.974T>G (p.Phe325Cys) n.338T>G n.3571T>G c.478T>G c.953T>G (p.Phe318Cys) c.*642T>G (n.*642T>G) c.1161T>G (n.1161T>G) c.1031T>G (p.Phe344Cys) c.923-2505T>G (n.923-2505T>G) c.1037T>G (p.Phe346Cys) c.1079T>G (p.Phe360Cys) c.620T>G (p.Phe207Cys) | |
5 | g.162149226C>A | CA362182549 | GABRG2 | c.1042C>A c.1161C>A (p.Phe387Leu) c.1124C>A n.295C>A c.756C>A (p.Phe252Leu) c.1041C>A (p.Phe347Leu) c.918C>A c.432C>A (p.Phe144Leu) c.969C>A (p.Phe323Leu) c.*241C>A (n.*241C>A) c.975C>A (p.Phe325Leu) n.339C>A n.3572C>A c.479C>A c.954C>A (p.Phe318Leu) c.*643C>A (n.*643C>A) c.1162C>A (n.1162C>A) c.1032C>A (p.Phe344Leu) c.923-2504C>A (n.923-2504C>A) c.1038C>A (p.Phe346Leu) c.1080C>A (p.Phe360Leu) c.621C>A (p.Phe207Leu) | |
5 | g.162149226C>G | CA362182550 | GABRG2 | c.1042C>G c.1161C>G (p.Phe387Leu) c.1124C>G n.295C>G c.756C>G (p.Phe252Leu) c.1041C>G (p.Phe347Leu) c.918C>G c.432C>G (p.Phe144Leu) c.969C>G (p.Phe323Leu) c.*241C>G (n.*241C>G) c.975C>G (p.Phe325Leu) n.339C>G n.3572C>G c.479C>G c.954C>G (p.Phe318Leu) c.*643C>G (n.*643C>G) c.1162C>G (n.1162C>G) c.1032C>G (p.Phe344Leu) c.923-2504C>G (n.923-2504C>G) c.1038C>G (p.Phe346Leu) c.1080C>G (p.Phe360Leu) c.621C>G (p.Phe207Leu) | |
5 | g.162149226C>T | CA447610300 | GABRG2 | c.1042C>T c.1161C>T (p.Phe387=) c.1124C>T n.295C>T c.756C>T (p.Phe252=) c.1041C>T (p.Phe347=) c.918C>T c.432C>T (p.Phe144=) c.969C>T (p.Phe323=) c.*241C>T (n.*241C>T) c.975C>T (p.Phe325=) n.339C>T n.3572C>T c.479C>T c.954C>T (p.Phe318=) c.*643C>T (n.*643C>T) c.1162C>T (n.1162C>T) c.1032C>T (p.Phe344=) c.923-2504C>T (n.923-2504C>T) c.1038C>T (p.Phe346=) c.1080C>T (p.Phe360=) c.621C>T (p.Phe207=) | COSMIC |
5 | g.162149227T>A | CA362182551 | GABRG2 | c.1043T>A c.1162T>A (p.Ser388Thr) c.1125T>A n.296T>A c.757T>A (p.Ser253Thr) c.1042T>A (p.Ser348Thr) c.919T>A c.433T>A (p.Ser145Thr) c.970T>A (p.Ser324Thr) c.*242T>A (n.*242T>A) c.976T>A (p.Ser326Thr) n.340T>A n.3573T>A c.480T>A c.955T>A (p.Ser319Thr) c.*644T>A (n.*644T>A) c.1163T>A (n.1163T>A) c.1033T>A (p.Ser345Thr) c.923-2503T>A (n.923-2503T>A) c.1039T>A (p.Ser347Thr) c.1081T>A (p.Ser361Thr) c.622T>A (p.Ser208Thr) | |
5 | g.162149227T>C | CA362182552 | GABRG2 | c.1043T>C c.1162T>C (p.Ser388Pro) c.1125T>C n.296T>C c.757T>C (p.Ser253Pro) c.1042T>C (p.Ser348Pro) c.919T>C c.433T>C (p.Ser145Pro) c.970T>C (p.Ser324Pro) c.*242T>C (n.*242T>C) c.976T>C (p.Ser326Pro) n.340T>C n.3573T>C c.480T>C c.955T>C (p.Ser319Pro) c.*644T>C (n.*644T>C) c.1163T>C (n.1163T>C) c.1033T>C (p.Ser345Pro) c.923-2503T>C (n.923-2503T>C) c.1039T>C (p.Ser347Pro) c.1081T>C (p.Ser361Pro) c.622T>C (p.Ser208Pro) | |
5 | g.162149227T>G | CA362182553 | GABRG2 | c.1043T>G c.1162T>G (p.Ser388Ala) c.1125T>G n.296T>G c.757T>G (p.Ser253Ala) c.1042T>G (p.Ser348Ala) c.919T>G c.433T>G (p.Ser145Ala) c.970T>G (p.Ser324Ala) c.*242T>G (n.*242T>G) c.976T>G (p.Ser326Ala) n.340T>G n.3573T>G c.480T>G c.955T>G (p.Ser319Ala) c.*644T>G (n.*644T>G) c.1163T>G (n.1163T>G) c.1033T>G (p.Ser345Ala) c.923-2503T>G (n.923-2503T>G) c.1039T>G (p.Ser347Ala) c.1081T>G (p.Ser361Ala) c.622T>G (p.Ser208Ala) | |
5 | g.162149228C>A | CA362182554 | GABRG2 | c.1044C>A c.1163C>A (p.Ser388Tyr) c.1126C>A n.297C>A c.758C>A (p.Ser253Tyr) c.1043C>A (p.Ser348Tyr) c.920C>A c.434C>A (p.Ser145Tyr) c.971C>A (p.Ser324Tyr) c.*243C>A (n.*243C>A) c.977C>A (p.Ser326Tyr) n.341C>A n.3574C>A c.481C>A c.956C>A (p.Ser319Tyr) c.*645C>A (n.*645C>A) c.1164C>A (n.1164C>A) c.1034C>A (p.Ser345Tyr) c.923-2502C>A (n.923-2502C>A) c.1040C>A (p.Ser347Tyr) c.1082C>A (p.Ser361Tyr) c.623C>A (p.Ser208Tyr) | |
5 | g.162149228C>G | CA362182555 | GABRG2 | c.1044C>G c.1163C>G (p.Ser388Cys) c.1126C>G n.297C>G c.758C>G (p.Ser253Cys) c.1043C>G (p.Ser348Cys) c.920C>G c.434C>G (p.Ser145Cys) c.971C>G (p.Ser324Cys) c.*243C>G (n.*243C>G) c.977C>G (p.Ser326Cys) n.341C>G n.3574C>G c.481C>G c.956C>G (p.Ser319Cys) c.*645C>G (n.*645C>G) c.1164C>G (n.1164C>G) c.1034C>G (p.Ser345Cys) c.923-2502C>G (n.923-2502C>G) c.1040C>G (p.Ser347Cys) c.1082C>G (p.Ser361Cys) c.623C>G (p.Ser208Cys) | COSMIC |
5 | g.162149228C>T | CA362182556 | GABRG2 | c.1044C>T c.1163C>T (p.Ser388Phe) c.1126C>T n.297C>T c.758C>T (p.Ser253Phe) c.1043C>T (p.Ser348Phe) c.920C>T c.434C>T (p.Ser145Phe) c.971C>T (p.Ser324Phe) c.*243C>T (n.*243C>T) c.977C>T (p.Ser326Phe) n.341C>T n.3574C>T c.481C>T c.956C>T (p.Ser319Phe) c.*645C>T (n.*645C>T) c.1164C>T (n.1164C>T) c.1034C>T (p.Ser345Phe) c.923-2502C>T (n.923-2502C>T) c.1040C>T (p.Ser347Phe) c.1082C>T (p.Ser361Phe) c.623C>T (p.Ser208Phe) | |
5 | g.162149229T>A | CA447610301 | GABRG2 | c.1045T>A c.1164T>A (p.Ser388=) c.1127T>A n.298T>A c.759T>A (p.Ser253=) c.1044T>A (p.Ser348=) c.921T>A c.435T>A (p.Ser145=) c.972T>A (p.Ser324=) c.*244T>A (n.*244T>A) c.978T>A (p.Ser326=) n.342T>A n.3575T>A c.482T>A c.957T>A (p.Ser319=) c.*646T>A (n.*646T>A) c.1165T>A (n.1165T>A) c.1035T>A (p.Ser345=) c.923-2501T>A (n.923-2501T>A) c.1041T>A (p.Ser347=) c.1083T>A (p.Ser361=) c.624T>A (p.Ser208=) | |
5 | g.162149229T>C | CA447610302 | GABRG2 | c.1045T>C c.1164T>C (p.Ser388=) c.1127T>C n.298T>C c.759T>C (p.Ser253=) c.1044T>C (p.Ser348=) c.921T>C c.435T>C (p.Ser145=) c.972T>C (p.Ser324=) c.*244T>C (n.*244T>C) c.978T>C (p.Ser326=) n.342T>C n.3575T>C c.482T>C c.957T>C (p.Ser319=) c.*646T>C (n.*646T>C) c.1165T>C (n.1165T>C) c.1035T>C (p.Ser345=) c.923-2501T>C (n.923-2501T>C) c.1041T>C (p.Ser347=) c.1083T>C (p.Ser361=) c.624T>C (p.Ser208=) | |
5 | g.162149229T>G | CA447610303 | GABRG2 | c.1045T>G c.1164T>G (p.Ser388=) c.1127T>G n.298T>G c.759T>G (p.Ser253=) c.1044T>G (p.Ser348=) c.921T>G c.435T>G (p.Ser145=) c.972T>G (p.Ser324=) c.*244T>G (n.*244T>G) c.978T>G (p.Ser326=) n.342T>G n.3575T>G c.482T>G c.957T>G (p.Ser319=) c.*646T>G (n.*646T>G) c.1165T>G (n.1165T>G) c.1035T>G (p.Ser345=) c.923-2501T>G (n.923-2501T>G) c.1041T>G (p.Ser347=) c.1083T>G (p.Ser361=) c.624T>G (p.Ser208=) | |
5 | g.162149230G>A | CA3544867 | GABRG2 | c.1046G>A c.1165G>A (p.Ala389Thr) c.1128G>A n.299G>A c.760G>A (p.Ala254Thr) c.1045G>A (p.Ala349Thr) c.922G>A c.436G>A (p.Ala146Thr) c.973G>A (p.Ala325Thr) c.*245G>A (n.*245G>A) c.979G>A (p.Ala327Thr) n.343G>A n.3576G>A c.483G>A c.958G>A (p.Ala320Thr) c.*647G>A (n.*647G>A) c.1166G>A (n.1166G>A) c.1036G>A (p.Ala346Thr) c.923-2500G>A (n.923-2500G>A) c.1042G>A (p.Ala348Thr) c.1084G>A (p.Ala362Thr) c.625G>A (p.Ala209Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.162149230G>C | CA362182557 | GABRG2 | c.1046G>C c.1165G>C (p.Ala389Pro) c.1128G>C n.299G>C c.760G>C (p.Ala254Pro) c.1045G>C (p.Ala349Pro) c.922G>C c.436G>C (p.Ala146Pro) c.973G>C (p.Ala325Pro) c.*245G>C (n.*245G>C) c.979G>C (p.Ala327Pro) n.343G>C n.3576G>C c.483G>C c.958G>C (p.Ala320Pro) c.*647G>C (n.*647G>C) c.1166G>C (n.1166G>C) c.1036G>C (p.Ala346Pro) c.923-2500G>C (n.923-2500G>C) c.1042G>C (p.Ala348Pro) c.1084G>C (p.Ala362Pro) c.625G>C (p.Ala209Pro) | |
5 | g.162149230G= | CA1596380270 | GABRG2 | c.1046G= c.1165G= (p.Ala389=) c.1128G= n.299G= c.760G= (p.Ala254=) c.1045G= (p.Ala349=) c.922G= c.436G= (p.Ala146=) c.973G= (p.Ala325=) c.*245G= (n.*245G=) c.979G= (p.Ala327=) n.343G= n.3576G= c.483G= c.958G= (p.Ala320=) c.*647G= (n.*647G=) c.1166G= (n.1166G=) c.1036G= (p.Ala346=) c.923-2500G= (n.923-2500G=) c.1042G= (p.Ala348=) c.1084G= (p.Ala362=) c.625G= (p.Ala209=) | |
5 | g.162149230G>T | CA362182558 | GABRG2 | c.1046G>T c.1165G>T (p.Ala389Ser) c.1128G>T n.299G>T c.760G>T (p.Ala254Ser) c.1045G>T (p.Ala349Ser) c.922G>T c.436G>T (p.Ala146Ser) c.973G>T (p.Ala325Ser) c.*245G>T (n.*245G>T) c.979G>T (p.Ala327Ser) n.343G>T n.3576G>T c.483G>T c.958G>T (p.Ala320Ser) c.*647G>T (n.*647G>T) c.1166G>T (n.1166G>T) c.1036G>T (p.Ala346Ser) c.923-2500G>T (n.923-2500G>T) c.1042G>T (p.Ala348Ser) c.1084G>T (p.Ala362Ser) c.625G>T (p.Ala209Ser) | |
5 | g.162149231C>A | CA362182561 | GABRG2 | c.1047C>A c.1166C>A (p.Ala389Asp) c.1129C>A n.300C>A c.761C>A (p.Ala254Asp) c.1046C>A (p.Ala349Asp) c.923C>A c.437C>A (p.Ala146Asp) c.974C>A (p.Ala325Asp) c.*246C>A (n.*246C>A) c.980C>A (p.Ala327Asp) n.344C>A n.3577C>A c.484C>A c.959C>A (p.Ala320Asp) c.*648C>A (n.*648C>A) c.1167C>A (n.1167C>A) c.1037C>A (p.Ala346Asp) c.923-2499C>A (n.923-2499C>A) c.1043C>A (p.Ala348Asp) c.1085C>A (p.Ala362Asp) c.626C>A (p.Ala209Asp) | ClinVar |
5 | g.162149231C>G | CA362182560 | GABRG2 | c.1047C>G c.1166C>G (p.Ala389Gly) c.1129C>G n.300C>G c.761C>G (p.Ala254Gly) c.1046C>G (p.Ala349Gly) c.923C>G c.437C>G (p.Ala146Gly) c.974C>G (p.Ala325Gly) c.*246C>G (n.*246C>G) c.980C>G (p.Ala327Gly) n.344C>G n.3577C>G c.484C>G c.959C>G (p.Ala320Gly) c.*648C>G (n.*648C>G) c.1167C>G (n.1167C>G) c.1037C>G (p.Ala346Gly) c.923-2499C>G (n.923-2499C>G) c.1043C>G (p.Ala348Gly) c.1085C>G (p.Ala362Gly) c.626C>G (p.Ala209Gly) | |
5 | g.162149231C>T | CA362182559 | GABRG2 | c.1047C>T c.1166C>T (p.Ala389Val) c.1129C>T n.300C>T c.761C>T (p.Ala254Val) c.1046C>T (p.Ala349Val) c.923C>T c.437C>T (p.Ala146Val) c.974C>T (p.Ala325Val) c.*246C>T (n.*246C>T) c.980C>T (p.Ala327Val) n.344C>T n.3577C>T c.484C>T c.959C>T (p.Ala320Val) c.*648C>T (n.*648C>T) c.1167C>T (n.1167C>T) c.1037C>T (p.Ala346Val) c.923-2499C>T (n.923-2499C>T) c.1043C>T (p.Ala348Val) c.1085C>T (p.Ala362Val) c.626C>T (p.Ala209Val) | |
5 | g.162149232T>A | CA447610304 | GABRG2 | c.1048T>A c.1167T>A (p.Ala389=) c.1130T>A n.301T>A c.762T>A (p.Ala254=) c.1047T>A (p.Ala349=) c.924T>A c.438T>A (p.Ala146=) c.975T>A (p.Ala325=) c.*247T>A (n.*247T>A) c.981T>A (p.Ala327=) n.345T>A n.3578T>A c.485T>A c.960T>A (p.Ala320=) c.*649T>A (n.*649T>A) c.1168T>A (n.1168T>A) c.1038T>A (p.Ala346=) c.923-2498T>A (n.923-2498T>A) c.1044T>A (p.Ala348=) c.1086T>A (p.Ala362=) c.627T>A (p.Ala209=) | |
5 | g.162149232T>C | CA447610305 | GABRG2 | c.1048T>C c.1167T>C (p.Ala389=) c.1130T>C n.301T>C c.762T>C (p.Ala254=) c.1047T>C (p.Ala349=) c.924T>C c.438T>C (p.Ala146=) c.975T>C (p.Ala325=) c.*247T>C (n.*247T>C) c.981T>C (p.Ala327=) n.345T>C n.3578T>C c.485T>C c.960T>C (p.Ala320=) c.*649T>C (n.*649T>C) c.1168T>C (n.1168T>C) c.1038T>C (p.Ala346=) c.923-2498T>C (n.923-2498T>C) c.1044T>C (p.Ala348=) c.1086T>C (p.Ala362=) c.627T>C (p.Ala209=) | |
5 | g.162149232T>G | CA447610306 | GABRG2 | c.1048T>G c.1167T>G (p.Ala389=) c.1130T>G n.301T>G c.762T>G (p.Ala254=) c.1047T>G (p.Ala349=) c.924T>G c.438T>G (p.Ala146=) c.975T>G (p.Ala325=) c.*247T>G (n.*247T>G) c.981T>G (p.Ala327=) n.345T>G n.3578T>G c.485T>G c.960T>G (p.Ala320=) c.*649T>G (n.*649T>G) c.1168T>G (n.1168T>G) c.1038T>G (p.Ala346=) c.923-2498T>G (n.923-2498T>G) c.1044T>G (p.Ala348=) c.1086T>G (p.Ala362=) c.627T>G (p.Ala209=) | |
5 | g.162149233C>A | CA362182562 | GABRG2 | c.1049C>A c.1168C>A (p.Leu390Met) c.1131C>A n.302C>A c.763C>A (p.Leu255Met) c.1048C>A (p.Leu350Met) c.925C>A c.439C>A (p.Leu147Met) c.976C>A (p.Leu326Met) c.*248C>A (n.*248C>A) c.982C>A (p.Leu328Met) n.346C>A n.3579C>A c.486C>A c.961C>A (p.Leu321Met) c.*650C>A (n.*650C>A) c.1169C>A (n.1169C>A) c.1039C>A (p.Leu347Met) c.923-2497C>A (n.923-2497C>A) c.1045C>A (p.Leu349Met) c.1087C>A (p.Leu363Met) c.628C>A (p.Leu210Met) | |
5 | g.162149233C>G | CA362182563 | GABRG2 | c.1049C>G c.1168C>G (p.Leu390Val) c.1131C>G n.302C>G c.763C>G (p.Leu255Val) c.1048C>G (p.Leu350Val) c.925C>G c.439C>G (p.Leu147Val) c.976C>G (p.Leu326Val) c.*248C>G (n.*248C>G) c.982C>G (p.Leu328Val) n.346C>G n.3579C>G c.486C>G c.961C>G (p.Leu321Val) c.*650C>G (n.*650C>G) c.1169C>G (n.1169C>G) c.1039C>G (p.Leu347Val) c.923-2497C>G (n.923-2497C>G) c.1045C>G (p.Leu349Val) c.1087C>G (p.Leu363Val) c.628C>G (p.Leu210Val) | |
5 | g.162149233C>T | CA447610308 | GABRG2 | c.1049C>T c.1168C>T (p.Leu390=) c.1131C>T n.302C>T c.763C>T (p.Leu255=) c.1048C>T (p.Leu350=) c.925C>T c.439C>T (p.Leu147=) c.976C>T (p.Leu326=) c.*248C>T (n.*248C>T) c.982C>T (p.Leu328=) n.346C>T n.3579C>T c.486C>T c.961C>T (p.Leu321=) c.*650C>T (n.*650C>T) c.1169C>T (n.1169C>T) c.1039C>T (p.Leu347=) c.923-2497C>T (n.923-2497C>T) c.1045C>T (p.Leu349=) c.1087C>T (p.Leu363=) c.628C>T (p.Leu210=) | |
5 | g.162149234T>A | CA362182564 | GABRG2 | c.1050T>A c.1169T>A (p.Leu390Gln) c.1132T>A n.303T>A c.764T>A (p.Leu255Gln) c.1049T>A (p.Leu350Gln) c.926T>A c.440T>A (p.Leu147Gln) c.977T>A (p.Leu326Gln) c.*249T>A (n.*249T>A) c.983T>A (p.Leu328Gln) n.347T>A n.3580T>A c.487T>A c.962T>A (p.Leu321Gln) c.*651T>A (n.*651T>A) c.1170T>A (n.1170T>A) c.1040T>A (p.Leu347Gln) c.923-2496T>A (n.923-2496T>A) c.1046T>A (p.Leu349Gln) c.1088T>A (p.Leu363Gln) c.629T>A (p.Leu210Gln) | |
5 | g.162149234T>C | CA362182565 | GABRG2 | c.1050T>C c.1169T>C (p.Leu390Pro) c.1132T>C n.303T>C c.764T>C (p.Leu255Pro) c.1049T>C (p.Leu350Pro) c.926T>C c.440T>C (p.Leu147Pro) c.977T>C (p.Leu326Pro) c.*249T>C (n.*249T>C) c.983T>C (p.Leu328Pro) n.347T>C n.3580T>C c.487T>C c.962T>C (p.Leu321Pro) c.*651T>C (n.*651T>C) c.1170T>C (n.1170T>C) c.1040T>C (p.Leu347Pro) c.923-2496T>C (n.923-2496T>C) c.1046T>C (p.Leu349Pro) c.1088T>C (p.Leu363Pro) c.629T>C (p.Leu210Pro) | dbSNP |
5 | g.162149234T>G | CA362182566 | GABRG2 | c.1050T>G c.1169T>G (p.Leu390Arg) c.1132T>G n.303T>G c.764T>G (p.Leu255Arg) c.1049T>G (p.Leu350Arg) c.926T>G c.440T>G (p.Leu147Arg) c.977T>G (p.Leu326Arg) c.*249T>G (n.*249T>G) c.983T>G (p.Leu328Arg) n.347T>G n.3580T>G c.487T>G c.962T>G (p.Leu321Arg) c.*651T>G (n.*651T>G) c.1170T>G (n.1170T>G) c.1040T>G (p.Leu347Arg) c.923-2496T>G (n.923-2496T>G) c.1046T>G (p.Leu349Arg) c.1088T>G (p.Leu363Arg) c.629T>G (p.Leu210Arg) | |
5 | g.162149235G>A | CA447610309 | GABRG2 | c.1051G>A c.1170G>A (p.Leu390=) c.1133G>A n.304G>A c.765G>A (p.Leu255=) c.1050G>A (p.Leu350=) c.927G>A c.441G>A (p.Leu147=) c.978G>A (p.Leu326=) c.*250G>A (n.*250G>A) c.984G>A (p.Leu328=) n.348G>A n.3581G>A c.488G>A c.963G>A (p.Leu321=) c.*652G>A (n.*652G>A) c.1171G>A (n.1171G>A) c.1041G>A (p.Leu347=) c.923-2495G>A (n.923-2495G>A) c.1047G>A (p.Leu349=) c.1089G>A (p.Leu363=) c.630G>A (p.Leu210=) | |
5 | g.162149235G>C | CA447610310 | GABRG2 | c.1051G>C c.1170G>C (p.Leu390=) c.1133G>C n.304G>C c.765G>C (p.Leu255=) c.1050G>C (p.Leu350=) c.927G>C c.441G>C (p.Leu147=) c.978G>C (p.Leu326=) c.*250G>C (n.*250G>C) c.984G>C (p.Leu328=) n.348G>C n.3581G>C c.488G>C c.963G>C (p.Leu321=) c.*652G>C (n.*652G>C) c.1171G>C (n.1171G>C) c.1041G>C (p.Leu347=) c.923-2495G>C (n.923-2495G>C) c.1047G>C (p.Leu349=) c.1089G>C (p.Leu363=) c.630G>C (p.Leu210=) | |
5 | g.162149235G>T | CA447610311 | GABRG2 | c.1051G>T c.1170G>T (p.Leu390=) c.1133G>T n.304G>T c.765G>T (p.Leu255=) c.1050G>T (p.Leu350=) c.927G>T c.441G>T (p.Leu147=) c.978G>T (p.Leu326=) c.*250G>T (n.*250G>T) c.984G>T (p.Leu328=) n.348G>T n.3581G>T c.488G>T c.963G>T (p.Leu321=) c.*652G>T (n.*652G>T) c.1171G>T (n.1171G>T) c.1041G>T (p.Leu347=) c.923-2495G>T (n.923-2495G>T) c.1047G>T (p.Leu349=) c.1089G>T (p.Leu363=) c.630G>T (p.Leu210=) | |
5 | g.162149236G>A | CA362182567 | GABRG2 | c.1052G>A c.1171G>A (p.Val391Met) c.1134G>A n.305G>A c.766G>A (p.Val256Met) c.1051G>A (p.Val351Met) c.928G>A c.442G>A (p.Val148Met) c.979G>A (p.Val327Met) c.*251G>A (n.*251G>A) c.985G>A (p.Val329Met) n.349G>A n.3582G>A c.489G>A c.964G>A (p.Val322Met) c.*653G>A (n.*653G>A) c.1172G>A (n.1172G>A) c.1042G>A (p.Val348Met) c.923-2494G>A (n.923-2494G>A) c.1048G>A (p.Val350Met) c.1090G>A (p.Val364Met) c.631G>A (p.Val211Met) | |
5 | g.162149236G>C | CA362182568 | GABRG2 | c.1052G>C c.1171G>C (p.Val391Leu) c.1134G>C n.305G>C c.766G>C (p.Val256Leu) c.1051G>C (p.Val351Leu) c.928G>C c.442G>C (p.Val148Leu) c.979G>C (p.Val327Leu) c.*251G>C (n.*251G>C) c.985G>C (p.Val329Leu) n.349G>C n.3582G>C c.489G>C c.964G>C (p.Val322Leu) c.*653G>C (n.*653G>C) c.1172G>C (n.1172G>C) c.1042G>C (p.Val348Leu) c.923-2494G>C (n.923-2494G>C) c.1048G>C (p.Val350Leu) c.1090G>C (p.Val364Leu) c.631G>C (p.Val211Leu) | |
5 | g.162149236G>T | CA362182569 | GABRG2 | c.1052G>T c.1171G>T (p.Val391Leu) c.1134G>T n.305G>T c.766G>T (p.Val256Leu) c.1051G>T (p.Val351Leu) c.928G>T c.442G>T (p.Val148Leu) c.979G>T (p.Val327Leu) c.*251G>T (n.*251G>T) c.985G>T (p.Val329Leu) n.349G>T n.3582G>T c.489G>T c.964G>T (p.Val322Leu) c.*653G>T (n.*653G>T) c.1172G>T (n.1172G>T) c.1042G>T (p.Val348Leu) c.923-2494G>T (n.923-2494G>T) c.1048G>T (p.Val350Leu) c.1090G>T (p.Val364Leu) c.631G>T (p.Val211Leu) | ClinVar COSMIC |
5 | g.162149237T>A | CA362182570 | GABRG2 | c.1053T>A c.1172T>A (p.Val391Glu) c.1135T>A n.306T>A c.767T>A (p.Val256Glu) c.1052T>A (p.Val351Glu) c.929T>A c.443T>A (p.Val148Glu) c.980T>A (p.Val327Glu) c.*252T>A (n.*252T>A) c.986T>A (p.Val329Glu) n.350T>A n.3583T>A c.490T>A c.965T>A (p.Val322Glu) c.*654T>A (n.*654T>A) c.1173T>A (n.1173T>A) c.1043T>A (p.Val348Glu) c.923-2493T>A (n.923-2493T>A) c.1049T>A (p.Val350Glu) c.1091T>A (p.Val364Glu) c.632T>A (p.Val211Glu) | COSMIC |
5 | g.162149237T>C | CA362182571 | GABRG2 | c.1053T>C c.1172T>C (p.Val391Ala) c.1135T>C n.306T>C c.767T>C (p.Val256Ala) c.1052T>C (p.Val351Ala) c.929T>C c.443T>C (p.Val148Ala) c.980T>C (p.Val327Ala) c.*252T>C (n.*252T>C) c.986T>C (p.Val329Ala) n.350T>C n.3583T>C c.490T>C c.965T>C (p.Val322Ala) c.*654T>C (n.*654T>C) c.1173T>C (n.1173T>C) c.1043T>C (p.Val348Ala) c.923-2493T>C (n.923-2493T>C) c.1049T>C (p.Val350Ala) c.1091T>C (p.Val364Ala) c.632T>C (p.Val211Ala) | |
5 | g.162149237T>G | CA362182572 | GABRG2 | c.1053T>G c.1172T>G (p.Val391Gly) c.1135T>G n.306T>G c.767T>G (p.Val256Gly) c.1052T>G (p.Val351Gly) c.929T>G c.443T>G (p.Val148Gly) c.980T>G (p.Val327Gly) c.*252T>G (n.*252T>G) c.986T>G (p.Val329Gly) n.350T>G n.3583T>G c.490T>G c.965T>G (p.Val322Gly) c.*654T>G (n.*654T>G) c.1173T>G (n.1173T>G) c.1043T>G (p.Val348Gly) c.923-2493T>G (n.923-2493T>G) c.1049T>G (p.Val350Gly) c.1091T>G (p.Val364Gly) c.632T>G (p.Val211Gly) | |
5 | g.162149238G>A | CA3544868 | GABRG2 | c.1054G>A c.1173G>A (p.Val391=) c.1136G>A n.307G>A c.768G>A (p.Val256=) c.1053G>A (p.Val351=) c.930G>A c.444G>A (p.Val148=) c.981G>A (p.Val327=) c.*253G>A (n.*253G>A) c.987G>A (p.Val329=) n.351G>A n.3584G>A c.491G>A c.966G>A (p.Val322=) c.*655G>A (n.*655G>A) c.1174G>A (n.1174G>A) c.1044G>A (p.Val348=) c.923-2492G>A (n.923-2492G>A) c.1050G>A (p.Val350=) c.1092G>A (p.Val364=) c.633G>A (p.Val211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162149238G>C | CA447610312 | GABRG2 | c.1054G>C c.1173G>C (p.Val391=) c.1136G>C n.307G>C c.768G>C (p.Val256=) c.1053G>C (p.Val351=) c.930G>C c.444G>C (p.Val148=) c.981G>C (p.Val327=) c.*253G>C (n.*253G>C) c.987G>C (p.Val329=) n.351G>C n.3584G>C c.491G>C c.966G>C (p.Val322=) c.*655G>C (n.*655G>C) c.1174G>C (n.1174G>C) c.1044G>C (p.Val348=) c.923-2492G>C (n.923-2492G>C) c.1050G>C (p.Val350=) c.1092G>C (p.Val364=) c.633G>C (p.Val211=) | |
5 | g.162149238G= | CA1596380271 | GABRG2 | c.1054G= c.1173G= (p.Val391=) c.1136G= n.307G= c.768G= (p.Val256=) c.1053G= (p.Val351=) c.930G= c.444G= (p.Val148=) c.981G= (p.Val327=) c.*253G= (n.*253G=) c.987G= (p.Val329=) n.351G= n.3584G= c.491G= c.966G= (p.Val322=) c.*655G= (n.*655G=) c.1174G= (n.1174G=) c.1044G= (p.Val348=) c.923-2492G= (n.923-2492G=) c.1050G= (p.Val350=) c.1092G= (p.Val364=) c.633G= (p.Val211=) | |
5 | g.162149238G>T | CA447610313 | GABRG2 | c.1054G>T c.1173G>T (p.Val391=) c.1136G>T n.307G>T c.768G>T (p.Val256=) c.1053G>T (p.Val351=) c.930G>T c.444G>T (p.Val148=) c.981G>T (p.Val327=) c.*253G>T (n.*253G>T) c.987G>T (p.Val329=) n.351G>T n.3584G>T c.491G>T c.966G>T (p.Val322=) c.*655G>T (n.*655G>T) c.1174G>T (n.1174G>T) c.1044G>T (p.Val348=) c.923-2492G>T (n.923-2492G>T) c.1050G>T (p.Val350=) c.1092G>T (p.Val364=) c.633G>T (p.Val211=) | |
5 | g.162149239G>A | CA362182575 | GABRG2 | c.1055G>A c.1174G>A (p.Glu392Lys) c.1137G>A n.308G>A c.769G>A (p.Glu257Lys) c.1054G>A (p.Glu352Lys) c.931G>A c.445G>A (p.Glu149Lys) c.982G>A (p.Glu328Lys) c.*254G>A (n.*254G>A) c.988G>A (p.Glu330Lys) n.352G>A n.3585G>A c.492G>A c.967G>A (p.Glu323Lys) c.*656G>A (n.*656G>A) c.1175G>A (n.1175G>A) c.1045G>A (p.Glu349Lys) c.923-2491G>A (n.923-2491G>A) c.1051G>A (p.Glu351Lys) c.1093G>A (p.Glu365Lys) c.634G>A (p.Glu212Lys) | |
5 | g.162149239G>C | CA362182574 | GABRG2 | c.1055G>C c.1174G>C (p.Glu392Gln) c.1137G>C n.308G>C c.769G>C (p.Glu257Gln) c.1054G>C (p.Glu352Gln) c.931G>C c.445G>C (p.Glu149Gln) c.982G>C (p.Glu328Gln) c.*254G>C (n.*254G>C) c.988G>C (p.Glu330Gln) n.352G>C n.3585G>C c.492G>C c.967G>C (p.Glu323Gln) c.*656G>C (n.*656G>C) c.1175G>C (n.1175G>C) c.1045G>C (p.Glu349Gln) c.923-2491G>C (n.923-2491G>C) c.1051G>C (p.Glu351Gln) c.1093G>C (p.Glu365Gln) c.634G>C (p.Glu212Gln) | |
5 | g.162149239G>T | CA362182573 | GABRG2 | c.1055G>T c.1174G>T (p.Glu392Ter) c.1137G>T n.308G>T c.769G>T (p.Glu257Ter) c.1054G>T (p.Glu352Ter) c.931G>T c.445G>T (p.Glu149Ter) c.982G>T (p.Glu328Ter) c.*254G>T (n.*254G>T) c.988G>T (p.Glu330Ter) n.352G>T n.3585G>T c.492G>T c.967G>T (p.Glu323Ter) c.*656G>T (n.*656G>T) c.1175G>T (n.1175G>T) c.1045G>T (p.Glu349Ter) c.923-2491G>T (n.923-2491G>T) c.1051G>T (p.Glu351Ter) c.1093G>T (p.Glu365Ter) c.634G>T (p.Glu212Ter) | gnomAD v4 |
5 | g.162149240A>C | CA362182576 | GABRG2 | c.1056A>C c.1175A>C (p.Glu392Ala) c.1138A>C n.309A>C c.770A>C (p.Glu257Ala) c.1055A>C (p.Glu352Ala) c.932A>C c.446A>C (p.Glu149Ala) c.983A>C (p.Glu328Ala) c.*255A>C (n.*255A>C) c.989A>C (p.Glu330Ala) n.353A>C n.3586A>C c.493A>C c.968A>C (p.Glu323Ala) c.*657A>C (n.*657A>C) c.1176A>C (n.1176A>C) c.1046A>C (p.Glu349Ala) c.923-2490A>C (n.923-2490A>C) c.1052A>C (p.Glu351Ala) c.1094A>C (p.Glu365Ala) c.635A>C (p.Glu212Ala) | |
5 | g.162149240A>G | CA362182577 | GABRG2 | c.1056A>G c.1175A>G (p.Glu392Gly) c.1138A>G n.309A>G c.770A>G (p.Glu257Gly) c.1055A>G (p.Glu352Gly) c.932A>G c.446A>G (p.Glu149Gly) c.983A>G (p.Glu328Gly) c.*255A>G (n.*255A>G) c.989A>G (p.Glu330Gly) n.353A>G n.3586A>G c.493A>G c.968A>G (p.Glu323Gly) c.*657A>G (n.*657A>G) c.1176A>G (n.1176A>G) c.1046A>G (p.Glu349Gly) c.923-2490A>G (n.923-2490A>G) c.1052A>G (p.Glu351Gly) c.1094A>G (p.Glu365Gly) c.635A>G (p.Glu212Gly) | |
5 | g.162149240A>T | CA362182578 | GABRG2 | c.1056A>T c.1175A>T (p.Glu392Val) c.1138A>T n.309A>T c.770A>T (p.Glu257Val) c.1055A>T (p.Glu352Val) c.932A>T c.446A>T (p.Glu149Val) c.983A>T (p.Glu328Val) c.*255A>T (n.*255A>T) c.989A>T (p.Glu330Val) n.353A>T n.3586A>T c.493A>T c.968A>T (p.Glu323Val) c.*657A>T (n.*657A>T) c.1176A>T (n.1176A>T) c.1046A>T (p.Glu349Val) c.923-2490A>T (n.923-2490A>T) c.1052A>T (p.Glu351Val) c.1094A>T (p.Glu365Val) c.635A>T (p.Glu212Val) | gnomAD v4 |
5 | g.162149241G>A | CA447610314 | GABRG2 | c.1057G>A c.1176G>A (p.Glu392=) c.1139G>A n.310G>A c.771G>A (p.Glu257=) c.1056G>A (p.Glu352=) c.933G>A c.447G>A (p.Glu149=) c.984G>A (p.Glu328=) c.*256G>A (n.*256G>A) c.990G>A (p.Glu330=) n.354G>A n.3587G>A c.494G>A c.969G>A (p.Glu323=) c.*658G>A (n.*658G>A) c.1177G>A (n.1177G>A) c.1047G>A (p.Glu349=) c.923-2489G>A (n.923-2489G>A) c.1053G>A (p.Glu351=) c.1095G>A (p.Glu365=) c.636G>A (p.Glu212=) | ClinVar dbSNP gnomAD v4 |
5 | g.162149241G>C | CA362182579 | GABRG2 | c.1057G>C c.1176G>C (p.Glu392Asp) c.1139G>C n.310G>C c.771G>C (p.Glu257Asp) c.1056G>C (p.Glu352Asp) c.933G>C c.447G>C (p.Glu149Asp) c.984G>C (p.Glu328Asp) c.*256G>C (n.*256G>C) c.990G>C (p.Glu330Asp) n.354G>C n.3587G>C c.494G>C c.969G>C (p.Glu323Asp) c.*658G>C (n.*658G>C) c.1177G>C (n.1177G>C) c.1047G>C (p.Glu349Asp) c.923-2489G>C (n.923-2489G>C) c.1053G>C (p.Glu351Asp) c.1095G>C (p.Glu365Asp) c.636G>C (p.Glu212Asp) | |
5 | g.162149241G>T | CA362182580 | GABRG2 | c.1057G>T c.1176G>T (p.Glu392Asp) c.1139G>T n.310G>T c.771G>T (p.Glu257Asp) c.1056G>T (p.Glu352Asp) c.933G>T c.447G>T (p.Glu149Asp) c.984G>T (p.Glu328Asp) c.*256G>T (n.*256G>T) c.990G>T (p.Glu330Asp) n.354G>T n.3587G>T c.494G>T c.969G>T (p.Glu323Asp) c.*658G>T (n.*658G>T) c.1177G>T (n.1177G>T) c.1047G>T (p.Glu349Asp) c.923-2489G>T (n.923-2489G>T) c.1053G>T (p.Glu351Asp) c.1095G>T (p.Glu365Asp) c.636G>T (p.Glu212Asp) | |
5 | g.162149242T>A | CA362182581 | GABRG2 | c.1058T>A c.1177T>A (p.Tyr393Asn) c.1140T>A n.311T>A c.772T>A (p.Tyr258Asn) c.1057T>A (p.Tyr353Asn) c.934T>A c.448T>A (p.Tyr150Asn) c.985T>A (p.Tyr329Asn) c.*257T>A (n.*257T>A) c.991T>A (p.Tyr331Asn) n.355T>A n.3588T>A c.495T>A c.970T>A (p.Tyr324Asn) c.*659T>A (n.*659T>A) c.1178T>A (n.1178T>A) c.1048T>A (p.Tyr350Asn) c.923-2488T>A (n.923-2488T>A) c.1054T>A (p.Tyr352Asn) c.1096T>A (p.Tyr366Asn) c.637T>A (p.Tyr213Asn) | |
5 | g.162149242T>C | CA362182582 | GABRG2 | c.1058T>C c.1177T>C (p.Tyr393His) c.1140T>C n.311T>C c.772T>C (p.Tyr258His) c.1057T>C (p.Tyr353His) c.934T>C c.448T>C (p.Tyr150His) c.985T>C (p.Tyr329His) c.*257T>C (n.*257T>C) c.991T>C (p.Tyr331His) n.355T>C n.3588T>C c.495T>C c.970T>C (p.Tyr324His) c.*659T>C (n.*659T>C) c.1178T>C (n.1178T>C) c.1048T>C (p.Tyr350His) c.923-2488T>C (n.923-2488T>C) c.1054T>C (p.Tyr352His) c.1096T>C (p.Tyr366His) c.637T>C (p.Tyr213His) | ClinVar |
5 | g.162149242T>G | CA362182583 | GABRG2 | c.1058T>G c.1177T>G (p.Tyr393Asp) c.1140T>G n.311T>G c.772T>G (p.Tyr258Asp) c.1057T>G (p.Tyr353Asp) c.934T>G c.448T>G (p.Tyr150Asp) c.985T>G (p.Tyr329Asp) c.*257T>G (n.*257T>G) c.991T>G (p.Tyr331Asp) n.355T>G n.3588T>G c.495T>G c.970T>G (p.Tyr324Asp) c.*659T>G (n.*659T>G) c.1178T>G (n.1178T>G) c.1048T>G (p.Tyr350Asp) c.923-2488T>G (n.923-2488T>G) c.1054T>G (p.Tyr352Asp) c.1096T>G (p.Tyr366Asp) c.637T>G (p.Tyr213Asp) | |
5 | g.162149243A>C | CA362182584 | GABRG2 | c.1059A>C c.1178A>C (p.Tyr393Ser) c.1141A>C n.312A>C c.773A>C (p.Tyr258Ser) c.1058A>C (p.Tyr353Ser) c.935A>C c.449A>C (p.Tyr150Ser) c.986A>C (p.Tyr329Ser) c.*258A>C (n.*258A>C) c.992A>C (p.Tyr331Ser) n.356A>C n.3589A>C c.496A>C c.971A>C (p.Tyr324Ser) c.*660A>C (n.*660A>C) c.1179A>C (n.1179A>C) c.1049A>C (p.Tyr350Ser) c.923-2487A>C (n.923-2487A>C) c.1055A>C (p.Tyr352Ser) c.1097A>C (p.Tyr366Ser) c.638A>C (p.Tyr213Ser) | |
5 | g.162149243A>G | CA362182585 | GABRG2 | c.1059A>G c.1178A>G (p.Tyr393Cys) c.1141A>G n.312A>G c.773A>G (p.Tyr258Cys) c.1058A>G (p.Tyr353Cys) c.935A>G c.449A>G (p.Tyr150Cys) c.986A>G (p.Tyr329Cys) c.*258A>G (n.*258A>G) c.992A>G (p.Tyr331Cys) n.356A>G n.3589A>G c.496A>G c.971A>G (p.Tyr324Cys) c.*660A>G (n.*660A>G) c.1179A>G (n.1179A>G) c.1049A>G (p.Tyr350Cys) c.923-2487A>G (n.923-2487A>G) c.1055A>G (p.Tyr352Cys) c.1097A>G (p.Tyr366Cys) c.638A>G (p.Tyr213Cys) | |
5 | g.162149243A>T | CA362182586 | GABRG2 | c.1059A>T c.1178A>T (p.Tyr393Phe) c.1141A>T n.312A>T c.773A>T (p.Tyr258Phe) c.1058A>T (p.Tyr353Phe) c.935A>T c.449A>T (p.Tyr150Phe) c.986A>T (p.Tyr329Phe) c.*258A>T (n.*258A>T) c.992A>T (p.Tyr331Phe) n.356A>T n.3589A>T c.496A>T c.971A>T (p.Tyr324Phe) c.*660A>T (n.*660A>T) c.1179A>T (n.1179A>T) c.1049A>T (p.Tyr350Phe) c.923-2487A>T (n.923-2487A>T) c.1055A>T (p.Tyr352Phe) c.1097A>T (p.Tyr366Phe) c.638A>T (p.Tyr213Phe) | |
5 | g.162149244T>A | CA362182587 | GABRG2 | c.1060T>A c.1179T>A (p.Tyr393Ter) c.1142T>A n.313T>A c.774T>A (p.Tyr258Ter) c.1059T>A (p.Tyr353Ter) c.936T>A c.450T>A (p.Tyr150Ter) c.987T>A (p.Tyr329Ter) c.*259T>A (n.*259T>A) c.993T>A (p.Tyr331Ter) n.357T>A n.3590T>A c.497T>A c.972T>A (p.Tyr324Ter) c.*661T>A (n.*661T>A) c.1180T>A (n.1180T>A) c.1050T>A (p.Tyr350Ter) c.923-2486T>A (n.923-2486T>A) c.1056T>A (p.Tyr352Ter) c.1098T>A (p.Tyr366Ter) c.639T>A (p.Tyr213Ter) | |
5 | g.162149244T>C | CA447610315 | GABRG2 | c.1060T>C c.1179T>C (p.Tyr393=) c.1142T>C n.313T>C c.774T>C (p.Tyr258=) c.1059T>C (p.Tyr353=) c.936T>C c.450T>C (p.Tyr150=) c.987T>C (p.Tyr329=) c.*259T>C (n.*259T>C) c.993T>C (p.Tyr331=) n.357T>C n.3590T>C c.497T>C c.972T>C (p.Tyr324=) c.*661T>C (n.*661T>C) c.1180T>C (n.1180T>C) c.1050T>C (p.Tyr350=) c.923-2486T>C (n.923-2486T>C) c.1056T>C (p.Tyr352=) c.1098T>C (p.Tyr366=) c.639T>C (p.Tyr213=) | |
5 | g.162149244T>G | CA362182588 | GABRG2 | c.1060T>G c.1179T>G (p.Tyr393Ter) c.1142T>G n.313T>G c.774T>G (p.Tyr258Ter) c.1059T>G (p.Tyr353Ter) c.936T>G c.450T>G (p.Tyr150Ter) c.987T>G (p.Tyr329Ter) c.*259T>G (n.*259T>G) c.993T>G (p.Tyr331Ter) n.357T>G n.3590T>G c.497T>G c.972T>G (p.Tyr324Ter) c.*661T>G (n.*661T>G) c.1180T>G (n.1180T>G) c.1050T>G (p.Tyr350Ter) c.923-2486T>G (n.923-2486T>G) c.1056T>G (p.Tyr352Ter) c.1098T>G (p.Tyr366Ter) c.639T>G (p.Tyr213Ter) | |
5 | g.162149245G>A | CA362182589 | GABRG2 | c.1061G>A c.1180G>A (p.Gly394Ser) c.1143G>A n.314G>A c.775G>A (p.Gly259Ser) c.1060G>A (p.Gly354Ser) c.937G>A c.451G>A (p.Gly151Ser) c.988G>A (p.Gly330Ser) c.*260G>A (n.*260G>A) c.994G>A (p.Gly332Ser) n.358G>A n.3591G>A c.498G>A c.973G>A (p.Gly325Ser) c.*662G>A (n.*662G>A) c.1181G>A (n.1181G>A) c.1051G>A (p.Gly351Ser) c.923-2485G>A (n.923-2485G>A) c.1057G>A (p.Gly353Ser) c.1099G>A (p.Gly367Ser) c.640G>A (p.Gly214Ser) | gnomAD v4 |
5 | g.162149245G>C | CA362182591 | GABRG2 | c.1061G>C c.1180G>C (p.Gly394Arg) c.1143G>C n.314G>C c.775G>C (p.Gly259Arg) c.1060G>C (p.Gly354Arg) c.937G>C c.451G>C (p.Gly151Arg) c.988G>C (p.Gly330Arg) c.*260G>C (n.*260G>C) c.994G>C (p.Gly332Arg) n.358G>C n.3591G>C c.498G>C c.973G>C (p.Gly325Arg) c.*662G>C (n.*662G>C) c.1181G>C (n.1181G>C) c.1051G>C (p.Gly351Arg) c.923-2485G>C (n.923-2485G>C) c.1057G>C (p.Gly353Arg) c.1099G>C (p.Gly367Arg) c.640G>C (p.Gly214Arg) | dbSNP |
5 | g.162149245G= | CA1596380272 | GABRG2 | c.1061G= c.1180G= (p.Gly394=) c.1143G= n.314G= c.775G= (p.Gly259=) c.1060G= (p.Gly354=) c.937G= c.451G= (p.Gly151=) c.988G= (p.Gly330=) c.*260G= (n.*260G=) c.994G= (p.Gly332=) n.358G= n.3591G= c.498G= c.973G= (p.Gly325=) c.*662G= (n.*662G=) c.1181G= (n.1181G=) c.1051G= (p.Gly351=) c.923-2485G= (n.923-2485G=) c.1057G= (p.Gly353=) c.1099G= (p.Gly367=) c.640G= (p.Gly214=) | |
5 | g.162149245G>T | CA362182590 | GABRG2 | c.1061G>T c.1180G>T (p.Gly394Cys) c.1143G>T n.314G>T c.775G>T (p.Gly259Cys) c.1060G>T (p.Gly354Cys) c.937G>T c.451G>T (p.Gly151Cys) c.988G>T (p.Gly330Cys) c.*260G>T (n.*260G>T) c.994G>T (p.Gly332Cys) n.358G>T n.3591G>T c.498G>T c.973G>T (p.Gly325Cys) c.*662G>T (n.*662G>T) c.1181G>T (n.1181G>T) c.1051G>T (p.Gly351Cys) c.923-2485G>T (n.923-2485G>T) c.1057G>T (p.Gly353Cys) c.1099G>T (p.Gly367Cys) c.640G>T (p.Gly214Cys) | |
5 | g.162149246G>A | CA362182592 | GABRG2 | c.1062G>A c.1181G>A (p.Gly394Asp) c.1144G>A n.315G>A c.776G>A (p.Gly259Asp) c.1061G>A (p.Gly354Asp) c.938G>A c.452G>A (p.Gly151Asp) c.989G>A (p.Gly330Asp) c.*261G>A (n.*261G>A) c.995G>A (p.Gly332Asp) n.359G>A n.3592G>A c.499G>A c.974G>A (p.Gly325Asp) c.*663G>A (n.*663G>A) c.1182G>A (n.1182G>A) c.1052G>A (p.Gly351Asp) c.923-2484G>A (n.923-2484G>A) c.1058G>A (p.Gly353Asp) c.1100G>A (p.Gly367Asp) c.641G>A (p.Gly214Asp) | |
5 | g.162149246G>C | CA362182593 | GABRG2 | c.1062G>C c.1181G>C (p.Gly394Ala) c.1144G>C n.315G>C c.776G>C (p.Gly259Ala) c.1061G>C (p.Gly354Ala) c.938G>C c.452G>C (p.Gly151Ala) c.989G>C (p.Gly330Ala) c.*261G>C (n.*261G>C) c.995G>C (p.Gly332Ala) n.359G>C n.3592G>C c.499G>C c.974G>C (p.Gly325Ala) c.*663G>C (n.*663G>C) c.1182G>C (n.1182G>C) c.1052G>C (p.Gly351Ala) c.923-2484G>C (n.923-2484G>C) c.1058G>C (p.Gly353Ala) c.1100G>C (p.Gly367Ala) c.641G>C (p.Gly214Ala) | |
5 | g.162149246G= | CA1596380273 | GABRG2 | c.1062G= c.1181G= (p.Gly394=) c.1144G= n.315G= c.776G= (p.Gly259=) c.1061G= (p.Gly354=) c.938G= c.452G= (p.Gly151=) c.989G= (p.Gly330=) c.*261G= (n.*261G=) c.995G= (p.Gly332=) n.359G= n.3592G= c.499G= c.974G= (p.Gly325=) c.*663G= (n.*663G=) c.1182G= (n.1182G=) c.1052G= (p.Gly351=) c.923-2484G= (n.923-2484G=) c.1058G= (p.Gly353=) c.1100G= (p.Gly367=) c.641G= (p.Gly214=) | |
5 | g.162149246G>T | CA16612028 | GABRG2 | c.1062G>T c.1181G>T (p.Gly394Val) c.1144G>T n.315G>T c.776G>T (p.Gly259Val) c.1061G>T (p.Gly354Val) c.938G>T c.452G>T (p.Gly151Val) c.989G>T (p.Gly330Val) c.*261G>T (n.*261G>T) c.995G>T (p.Gly332Val) n.359G>T n.3592G>T c.499G>T c.974G>T (p.Gly325Val) c.*663G>T (n.*663G>T) c.1182G>T (n.1182G>T) c.1052G>T (p.Gly351Val) c.923-2484G>T (n.923-2484G>T) c.1058G>T (p.Gly353Val) c.1100G>T (p.Gly367Val) c.641G>T (p.Gly214Val) | ClinVar dbSNP |
5 | g.162149247C>A | CA447610316 | GABRG2 | c.1063C>A c.1182C>A (p.Gly394=) c.1145C>A n.316C>A c.777C>A (p.Gly259=) c.1062C>A (p.Gly354=) c.939C>A c.453C>A (p.Gly151=) c.990C>A (p.Gly330=) c.*262C>A (n.*262C>A) c.996C>A (p.Gly332=) n.360C>A n.3593C>A c.500C>A c.975C>A (p.Gly325=) c.*664C>A (n.*664C>A) c.1183C>A (n.1183C>A) c.1053C>A (p.Gly351=) c.923-2483C>A (n.923-2483C>A) c.1059C>A (p.Gly353=) c.1101C>A (p.Gly367=) c.642C>A (p.Gly214=) | |
5 | g.162149247C= | CA1596380274 | GABRG2 | c.1063C= c.1182C= (p.Gly394=) c.1145C= n.316C= c.777C= (p.Gly259=) c.1062C= (p.Gly354=) c.939C= c.453C= (p.Gly151=) c.990C= (p.Gly330=) c.*262C= (n.*262C=) c.996C= (p.Gly332=) n.360C= n.3593C= c.500C= c.975C= (p.Gly325=) c.*664C= (n.*664C=) c.1183C= (n.1183C=) c.1053C= (p.Gly351=) c.923-2483C= (n.923-2483C=) c.1059C= (p.Gly353=) c.1101C= (p.Gly367=) c.642C= (p.Gly214=) | |
5 | g.162149247C>G | CA447610317 | GABRG2 | c.1063C>G c.1182C>G (p.Gly394=) c.1145C>G n.316C>G c.777C>G (p.Gly259=) c.1062C>G (p.Gly354=) c.939C>G c.453C>G (p.Gly151=) c.990C>G (p.Gly330=) c.*262C>G (n.*262C>G) c.996C>G (p.Gly332=) n.360C>G n.3593C>G c.500C>G c.975C>G (p.Gly325=) c.*664C>G (n.*664C>G) c.1183C>G (n.1183C>G) c.1053C>G (p.Gly351=) c.923-2483C>G (n.923-2483C>G) c.1059C>G (p.Gly353=) c.1101C>G (p.Gly367=) c.642C>G (p.Gly214=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.162149247C>T | CA447610318 | GABRG2 | c.1063C>T c.1182C>T (p.Gly394=) c.1145C>T n.316C>T c.777C>T (p.Gly259=) c.1062C>T (p.Gly354=) c.939C>T c.453C>T (p.Gly151=) c.990C>T (p.Gly330=) c.*262C>T (n.*262C>T) c.996C>T (p.Gly332=) n.360C>T n.3593C>T c.500C>T c.975C>T (p.Gly325=) c.*664C>T (n.*664C>T) c.1183C>T (n.1183C>T) c.1053C>T (p.Gly351=) c.923-2483C>T (n.923-2483C>T) c.1059C>T (p.Gly353=) c.1101C>T (p.Gly367=) c.642C>T (p.Gly214=) | dbSNP gnomAD v2 |
5 | g.162149248A>C | CA362182594 | GABRG2 | c.1064A>C c.1183A>C (p.Thr395Pro) c.1146A>C n.317A>C c.778A>C (p.Thr260Pro) c.1063A>C (p.Thr355Pro) c.940A>C c.454A>C (p.Thr152Pro) c.991A>C (p.Thr331Pro) c.*263A>C (n.*263A>C) c.997A>C (p.Thr333Pro) n.361A>C n.3594A>C c.501A>C c.976A>C (p.Thr326Pro) c.*665A>C (n.*665A>C) c.1184A>C (n.1184A>C) c.1054A>C (p.Thr352Pro) c.923-2482A>C (n.923-2482A>C) c.1060A>C (p.Thr354Pro) c.1102A>C (p.Thr368Pro) c.643A>C (p.Thr215Pro) | |
5 | g.162149248A>G | CA362182595 | GABRG2 | c.1064A>G c.1183A>G (p.Thr395Ala) c.1146A>G n.317A>G c.778A>G (p.Thr260Ala) c.1063A>G (p.Thr355Ala) c.940A>G c.454A>G (p.Thr152Ala) c.991A>G (p.Thr331Ala) c.*263A>G (n.*263A>G) c.997A>G (p.Thr333Ala) n.361A>G n.3594A>G c.501A>G c.976A>G (p.Thr326Ala) c.*665A>G (n.*665A>G) c.1184A>G (n.1184A>G) c.1054A>G (p.Thr352Ala) c.923-2482A>G (n.923-2482A>G) c.1060A>G (p.Thr354Ala) c.1102A>G (p.Thr368Ala) c.643A>G (p.Thr215Ala) | |
5 | g.162149248A>T | CA362182596 | GABRG2 | c.1064A>T c.1183A>T (p.Thr395Ser) c.1146A>T n.317A>T c.778A>T (p.Thr260Ser) c.1063A>T (p.Thr355Ser) c.940A>T c.454A>T (p.Thr152Ser) c.991A>T (p.Thr331Ser) c.*263A>T (n.*263A>T) c.997A>T (p.Thr333Ser) n.361A>T n.3594A>T c.501A>T c.976A>T (p.Thr326Ser) c.*665A>T (n.*665A>T) c.1184A>T (n.1184A>T) c.1054A>T (p.Thr352Ser) c.923-2482A>T (n.923-2482A>T) c.1060A>T (p.Thr354Ser) c.1102A>T (p.Thr368Ser) c.643A>T (p.Thr215Ser) | |
5 | g.162149249C>A | CA362182597 | GABRG2 | c.1065C>A c.1184C>A (p.Thr395Asn) c.1147C>A n.318C>A c.779C>A (p.Thr260Asn) c.1064C>A (p.Thr355Asn) c.941C>A c.455C>A (p.Thr152Asn) c.992C>A (p.Thr331Asn) c.*264C>A (n.*264C>A) c.998C>A (p.Thr333Asn) n.362C>A n.3595C>A c.502C>A c.977C>A (p.Thr326Asn) c.*666C>A (n.*666C>A) c.1185C>A (n.1185C>A) c.1055C>A (p.Thr352Asn) c.923-2481C>A (n.923-2481C>A) c.1061C>A (p.Thr354Asn) c.1103C>A (p.Thr368Asn) c.644C>A (p.Thr215Asn) | |
5 | g.162149249C>G | CA362182598 | GABRG2 | c.1065C>G c.1184C>G (p.Thr395Ser) c.1147C>G n.318C>G c.779C>G (p.Thr260Ser) c.1064C>G (p.Thr355Ser) c.941C>G c.455C>G (p.Thr152Ser) c.992C>G (p.Thr331Ser) c.*264C>G (n.*264C>G) c.998C>G (p.Thr333Ser) n.362C>G n.3595C>G c.502C>G c.977C>G (p.Thr326Ser) c.*666C>G (n.*666C>G) c.1185C>G (n.1185C>G) c.1055C>G (p.Thr352Ser) c.923-2481C>G (n.923-2481C>G) c.1061C>G (p.Thr354Ser) c.1103C>G (p.Thr368Ser) c.644C>G (p.Thr215Ser) | |
5 | g.162149249C>T | CA362182599 | GABRG2 | c.1065C>T c.1184C>T (p.Thr395Ile) c.1147C>T n.318C>T c.779C>T (p.Thr260Ile) c.1064C>T (p.Thr355Ile) c.941C>T c.455C>T (p.Thr152Ile) c.992C>T (p.Thr331Ile) c.*264C>T (n.*264C>T) c.998C>T (p.Thr333Ile) n.362C>T n.3595C>T c.502C>T c.977C>T (p.Thr326Ile) c.*666C>T (n.*666C>T) c.1185C>T (n.1185C>T) c.1055C>T (p.Thr352Ile) c.923-2481C>T (n.923-2481C>T) c.1061C>T (p.Thr354Ile) c.1103C>T (p.Thr368Ile) c.644C>T (p.Thr215Ile) |