| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162153096C>A | CA362183181 | GABRG2 | c.1157C>A c.1252C>A (p.Pro418Thr) c.1215C>A n.410C>A c.847C>A (p.Pro283Thr) c.871C>A (p.Pro291Thr) c.*3753C>A (n.*3753C>A) c.1033C>A c.523C>A (p.Pro175Thr) c.1132C>A (p.Pro378Thr) c.1156C>A (p.Pro386Thr) c.1819C>A (n.1819C>A) c.*1337C>A (n.*1337C>A) c.*356C>A (n.*356C>A) c.1090C>A (p.Pro364Thr) c.1066C>A (p.Pro356Thr) n.430C>A n.6103C>A c.594C>A c.1069C>A (p.Pro357Thr) c.1225C>A (p.Pro409Thr) c.1276C>A (p.Pro426Thr) c.*734C>A (n.*734C>A) c.1253C>A (n.1253C>A) c.1147C>A (p.Pro383Thr) c.950C>A (p.Pro317His) c.1153C>A (p.Pro385Thr) c.1129C>A (p.Pro377Thr) c.1195C>A (p.Pro399Thr) c.712C>A (p.Pro238Thr) c.736C>A (p.Pro246Thr) | |
| 5 | g.162153096C= | CA1596381970 | GABRG2 | c.1157C= c.1252C= (p.Pro418=) c.1215C= n.410C= c.847C= (p.Pro283=) c.871C= (p.Pro291=) c.*3753C= (n.*3753C=) c.1033C= c.523C= (p.Pro175=) c.1132C= (p.Pro378=) c.1156C= (p.Pro386=) c.1819C= (n.1819C=) c.*1337C= (n.*1337C=) c.*356C= (n.*356C=) c.1090C= (p.Pro364=) c.1066C= (p.Pro356=) n.430C= n.6103C= c.594C= c.1069C= (p.Pro357=) c.1225C= (p.Pro409=) c.1276C= (p.Pro426=) c.*734C= (n.*734C=) c.1253C= (n.1253C=) c.1147C= (p.Pro383=) c.950C= (p.Pro317=) c.1153C= (p.Pro385=) c.1129C= (p.Pro377=) c.1195C= (p.Pro399=) c.712C= (p.Pro238=) c.736C= (p.Pro246=) | |
| 5 | g.162153096C>G | CA362183182 | GABRG2 | c.1157C>G c.1252C>G (p.Pro418Ala) c.1215C>G n.410C>G c.847C>G (p.Pro283Ala) c.871C>G (p.Pro291Ala) c.*3753C>G (n.*3753C>G) c.1033C>G c.523C>G (p.Pro175Ala) c.1132C>G (p.Pro378Ala) c.1156C>G (p.Pro386Ala) c.1819C>G (n.1819C>G) c.*1337C>G (n.*1337C>G) c.*356C>G (n.*356C>G) c.1090C>G (p.Pro364Ala) c.1066C>G (p.Pro356Ala) n.430C>G n.6103C>G c.594C>G c.1069C>G (p.Pro357Ala) c.1225C>G (p.Pro409Ala) c.1276C>G (p.Pro426Ala) c.*734C>G (n.*734C>G) c.1253C>G (n.1253C>G) c.1147C>G (p.Pro383Ala) c.950C>G (p.Pro317Arg) c.1153C>G (p.Pro385Ala) c.1129C>G (p.Pro377Ala) c.1195C>G (p.Pro399Ala) c.712C>G (p.Pro238Ala) c.736C>G (p.Pro246Ala) | ClinVar |
| 5 | g.162153096C>T | CA3544967 | GABRG2 | c.1157C>T c.1252C>T (p.Pro418Ser) c.1215C>T n.410C>T c.847C>T (p.Pro283Ser) c.871C>T (p.Pro291Ser) c.*3753C>T (n.*3753C>T) c.1033C>T c.523C>T (p.Pro175Ser) c.1132C>T (p.Pro378Ser) c.1156C>T (p.Pro386Ser) c.1819C>T (n.1819C>T) c.*1337C>T (n.*1337C>T) c.*356C>T (n.*356C>T) c.1090C>T (p.Pro364Ser) c.1066C>T (p.Pro356Ser) n.430C>T n.6103C>T c.594C>T c.1069C>T (p.Pro357Ser) c.1225C>T (p.Pro409Ser) c.1276C>T (p.Pro426Ser) c.*734C>T (n.*734C>T) c.1253C>T (n.1253C>T) c.1147C>T (p.Pro383Ser) c.950C>T (p.Pro317Leu) c.1153C>T (p.Pro385Ser) c.1129C>T (p.Pro377Ser) c.1195C>T (p.Pro399Ser) c.712C>T (p.Pro238Ser) c.736C>T (p.Pro246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.162153097C>A | CA362183183 | GABRG2 | c.1158C>A c.1253C>A (p.Pro418His) c.1216C>A n.411C>A c.848C>A (p.Pro283His) c.872C>A (p.Pro291His) c.*3754C>A (n.*3754C>A) c.1034C>A c.524C>A (p.Pro175His) c.1133C>A (p.Pro378His) c.1157C>A (p.Pro386His) c.1820C>A (n.1820C>A) c.*1338C>A (n.*1338C>A) c.*357C>A (n.*357C>A) c.1091C>A (p.Pro364His) c.1067C>A (p.Pro356His) n.431C>A n.6104C>A c.595C>A c.1070C>A (p.Pro357His) c.1226C>A (p.Pro409His) c.1277C>A (p.Pro426His) c.*735C>A (n.*735C>A) c.1254C>A (n.1254C>A) c.1148C>A (p.Pro383His) c.951C>A (p.Pro317=) c.1154C>A (p.Pro385His) c.1130C>A (p.Pro377His) c.1196C>A (p.Pro399His) c.713C>A (p.Pro238His) c.737C>A (p.Pro246His) | |
| 5 | g.162153097C>G | CA362183184 | GABRG2 | c.1158C>G c.1253C>G (p.Pro418Arg) c.1216C>G n.411C>G c.848C>G (p.Pro283Arg) c.872C>G (p.Pro291Arg) c.*3754C>G (n.*3754C>G) c.1034C>G c.524C>G (p.Pro175Arg) c.1133C>G (p.Pro378Arg) c.1157C>G (p.Pro386Arg) c.1820C>G (n.1820C>G) c.*1338C>G (n.*1338C>G) c.*357C>G (n.*357C>G) c.1091C>G (p.Pro364Arg) c.1067C>G (p.Pro356Arg) n.431C>G n.6104C>G c.595C>G c.1070C>G (p.Pro357Arg) c.1226C>G (p.Pro409Arg) c.1277C>G (p.Pro426Arg) c.*735C>G (n.*735C>G) c.1254C>G (n.1254C>G) c.1148C>G (p.Pro383Arg) c.951C>G (p.Pro317=) c.1154C>G (p.Pro385Arg) c.1130C>G (p.Pro377Arg) c.1196C>G (p.Pro399Arg) c.713C>G (p.Pro238Arg) c.737C>G (p.Pro246Arg) | |
| 5 | g.162153097C>T | CA362183185 | GABRG2 | c.1158C>T c.1253C>T (p.Pro418Leu) c.1216C>T n.411C>T c.848C>T (p.Pro283Leu) c.872C>T (p.Pro291Leu) c.*3754C>T (n.*3754C>T) c.1034C>T c.524C>T (p.Pro175Leu) c.1133C>T (p.Pro378Leu) c.1157C>T (p.Pro386Leu) c.1820C>T (n.1820C>T) c.*1338C>T (n.*1338C>T) c.*357C>T (n.*357C>T) c.1091C>T (p.Pro364Leu) c.1067C>T (p.Pro356Leu) n.431C>T n.6104C>T c.595C>T c.1070C>T (p.Pro357Leu) c.1226C>T (p.Pro409Leu) c.1277C>T (p.Pro426Leu) c.*735C>T (n.*735C>T) c.1254C>T (n.1254C>T) c.1148C>T (p.Pro383Leu) c.951C>T (p.Pro317=) c.1154C>T (p.Pro385Leu) c.1130C>T (p.Pro377Leu) c.1196C>T (p.Pro399Leu) c.713C>T (p.Pro238Leu) c.737C>T (p.Pro246Leu) | |
| 5 | g.162153098T>A | CA447691475 | GABRG2 | c.1159T>A c.1254T>A (p.Pro418=) c.1217T>A n.412T>A c.849T>A (p.Pro283=) c.873T>A (p.Pro291=) c.*3755T>A (n.*3755T>A) c.1035T>A c.525T>A (p.Pro175=) c.1134T>A (p.Pro378=) c.1158T>A (p.Pro386=) c.1821T>A (n.1821T>A) c.*1339T>A (n.*1339T>A) c.*358T>A (n.*358T>A) c.1092T>A (p.Pro364=) c.1068T>A (p.Pro356=) n.432T>A n.6105T>A c.596T>A c.1071T>A (p.Pro357=) c.1227T>A (p.Pro409=) c.1278T>A (p.Pro426=) c.*736T>A (n.*736T>A) c.1255T>A (n.1255T>A) c.1149T>A (p.Pro383=) c.952T>A (p.Tyr318Asn) c.1155T>A (p.Pro385=) c.1131T>A (p.Pro377=) c.1197T>A (p.Pro399=) c.714T>A (p.Pro238=) c.738T>A (p.Pro246=) | |
| 5 | g.162153098T>C | CA447691476 | GABRG2 | c.1159T>C c.1254T>C (p.Pro418=) c.1217T>C n.412T>C c.849T>C (p.Pro283=) c.873T>C (p.Pro291=) c.*3755T>C (n.*3755T>C) c.1035T>C c.525T>C (p.Pro175=) c.1134T>C (p.Pro378=) c.1158T>C (p.Pro386=) c.1821T>C (n.1821T>C) c.*1339T>C (n.*1339T>C) c.*358T>C (n.*358T>C) c.1092T>C (p.Pro364=) c.1068T>C (p.Pro356=) n.432T>C n.6105T>C c.596T>C c.1071T>C (p.Pro357=) c.1227T>C (p.Pro409=) c.1278T>C (p.Pro426=) c.*736T>C (n.*736T>C) c.1255T>C (n.1255T>C) c.1149T>C (p.Pro383=) c.952T>C (p.Tyr318His) c.1155T>C (p.Pro385=) c.1131T>C (p.Pro377=) c.1197T>C (p.Pro399=) c.714T>C (p.Pro238=) c.738T>C (p.Pro246=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.162153098T>G | CA447691477 | GABRG2 | c.1159T>G c.1254T>G (p.Pro418=) c.1217T>G n.412T>G c.849T>G (p.Pro283=) c.873T>G (p.Pro291=) c.*3755T>G (n.*3755T>G) c.1035T>G c.525T>G (p.Pro175=) c.1134T>G (p.Pro378=) c.1158T>G (p.Pro386=) c.1821T>G (n.1821T>G) c.*1339T>G (n.*1339T>G) c.*358T>G (n.*358T>G) c.1092T>G (p.Pro364=) c.1068T>G (p.Pro356=) n.432T>G n.6105T>G c.596T>G c.1071T>G (p.Pro357=) c.1227T>G (p.Pro409=) c.1278T>G (p.Pro426=) c.*736T>G (n.*736T>G) c.1255T>G (n.1255T>G) c.1149T>G (p.Pro383=) c.952T>G (p.Tyr318Asp) c.1155T>G (p.Pro385=) c.1131T>G (p.Pro377=) c.1197T>G (p.Pro399=) c.714T>G (p.Pro238=) c.738T>G (p.Pro246=) | |
| 5 | g.162153098T= | CA1596381971 | GABRG2 | c.1159T= c.1254T= (p.Pro418=) c.1217T= n.412T= c.849T= (p.Pro283=) c.873T= (p.Pro291=) c.*3755T= (n.*3755T=) c.1035T= c.525T= (p.Pro175=) c.1134T= (p.Pro378=) c.1158T= (p.Pro386=) c.1821T= (n.1821T=) c.*1339T= (n.*1339T=) c.*358T= (n.*358T=) c.1092T= (p.Pro364=) c.1068T= (p.Pro356=) n.432T= n.6105T= c.596T= c.1071T= (p.Pro357=) c.1227T= (p.Pro409=) c.1278T= (p.Pro426=) c.*736T= (n.*736T=) c.1255T= (n.1255T=) c.1149T= (p.Pro383=) c.952T= (p.Tyr318=) c.1155T= (p.Pro385=) c.1131T= (p.Pro377=) c.1197T= (p.Pro399=) c.714T= (p.Pro238=) c.738T= (p.Pro246=) | |
| 5 | g.162153099A>C | CA362183186 | GABRG2 | c.1160A>C c.1255A>C (p.Thr419Pro) c.1218A>C n.413A>C c.850A>C (p.Thr284Pro) c.874A>C (p.Thr292Pro) c.*3756A>C (n.*3756A>C) c.1036A>C c.526A>C (p.Thr176Pro) c.1135A>C (p.Thr379Pro) c.1159A>C (p.Thr387Pro) c.1822A>C (n.1822A>C) c.*1340A>C (n.*1340A>C) c.*359A>C (n.*359A>C) c.1093A>C (p.Thr365Pro) c.1069A>C (p.Thr357Pro) n.433A>C n.6106A>C c.597A>C c.1072A>C (p.Thr358Pro) c.1228A>C (p.Thr410Pro) c.1279A>C (p.Thr427Pro) c.*737A>C (n.*737A>C) c.1256A>C (n.1256A>C) c.1150A>C (p.Thr384Pro) c.953A>C (p.Tyr318Ser) c.1156A>C (p.Thr386Pro) c.1132A>C (p.Thr378Pro) c.1198A>C (p.Thr400Pro) c.715A>C (p.Thr239Pro) c.739A>C (p.Thr247Pro) | |
| 5 | g.162153099A>G | CA362183187 | GABRG2 | c.1160A>G c.1255A>G (p.Thr419Ala) c.1218A>G n.413A>G c.850A>G (p.Thr284Ala) c.874A>G (p.Thr292Ala) c.*3756A>G (n.*3756A>G) c.1036A>G c.526A>G (p.Thr176Ala) c.1135A>G (p.Thr379Ala) c.1159A>G (p.Thr387Ala) c.1822A>G (n.1822A>G) c.*1340A>G (n.*1340A>G) c.*359A>G (n.*359A>G) c.1093A>G (p.Thr365Ala) c.1069A>G (p.Thr357Ala) n.433A>G n.6106A>G c.597A>G c.1072A>G (p.Thr358Ala) c.1228A>G (p.Thr410Ala) c.1279A>G (p.Thr427Ala) c.*737A>G (n.*737A>G) c.1256A>G (n.1256A>G) c.1150A>G (p.Thr384Ala) c.953A>G (p.Tyr318Cys) c.1156A>G (p.Thr386Ala) c.1132A>G (p.Thr378Ala) c.1198A>G (p.Thr400Ala) c.715A>G (p.Thr239Ala) c.739A>G (p.Thr247Ala) | |
| 5 | g.162153099A>T | CA362183188 | GABRG2 | c.1160A>T c.1255A>T (p.Thr419Ser) c.1218A>T n.413A>T c.850A>T (p.Thr284Ser) c.874A>T (p.Thr292Ser) c.*3756A>T (n.*3756A>T) c.1036A>T c.526A>T (p.Thr176Ser) c.1135A>T (p.Thr379Ser) c.1159A>T (p.Thr387Ser) c.1822A>T (n.1822A>T) c.*1340A>T (n.*1340A>T) c.*359A>T (n.*359A>T) c.1093A>T (p.Thr365Ser) c.1069A>T (p.Thr357Ser) n.433A>T n.6106A>T c.597A>T c.1072A>T (p.Thr358Ser) c.1228A>T (p.Thr410Ser) c.1279A>T (p.Thr427Ser) c.*737A>T (n.*737A>T) c.1256A>T (n.1256A>T) c.1150A>T (p.Thr384Ser) c.953A>T (p.Tyr318Phe) c.1156A>T (p.Thr386Ser) c.1132A>T (p.Thr378Ser) c.1198A>T (p.Thr400Ser) c.715A>T (p.Thr239Ser) c.739A>T (p.Thr247Ser) | |
| 5 | g.162153100C>A | CA362183190 | GABRG2 | c.1161C>A c.1256C>A (p.Thr419Asn) c.1219C>A n.414C>A c.851C>A (p.Thr284Asn) c.875C>A (p.Thr292Asn) c.*3757C>A (n.*3757C>A) c.1037C>A c.527C>A (p.Thr176Asn) c.1136C>A (p.Thr379Asn) c.1160C>A (p.Thr387Asn) c.1823C>A (n.1823C>A) c.*1341C>A (n.*1341C>A) c.*360C>A (n.*360C>A) c.1094C>A (p.Thr365Asn) c.1070C>A (p.Thr357Asn) n.434C>A n.6107C>A c.598C>A c.1073C>A (p.Thr358Asn) c.1229C>A (p.Thr410Asn) c.1280C>A (p.Thr427Asn) c.*738C>A (n.*738C>A) c.1257C>A (n.1257C>A) c.1151C>A (p.Thr384Asn) c.954C>A (p.Tyr318Ter) c.1157C>A (p.Thr386Asn) c.1133C>A (p.Thr378Asn) c.1199C>A (p.Thr400Asn) c.716C>A (p.Thr239Asn) c.740C>A (p.Thr247Asn) | |
| 5 | g.162153100C>G | CA362183191 | GABRG2 | c.1161C>G c.1256C>G (p.Thr419Ser) c.1219C>G n.414C>G c.851C>G (p.Thr284Ser) c.875C>G (p.Thr292Ser) c.*3757C>G (n.*3757C>G) c.1037C>G c.527C>G (p.Thr176Ser) c.1136C>G (p.Thr379Ser) c.1160C>G (p.Thr387Ser) c.1823C>G (n.1823C>G) c.*1341C>G (n.*1341C>G) c.*360C>G (n.*360C>G) c.1094C>G (p.Thr365Ser) c.1070C>G (p.Thr357Ser) n.434C>G n.6107C>G c.598C>G c.1073C>G (p.Thr358Ser) c.1229C>G (p.Thr410Ser) c.1280C>G (p.Thr427Ser) c.*738C>G (n.*738C>G) c.1257C>G (n.1257C>G) c.1151C>G (p.Thr384Ser) c.954C>G (p.Tyr318Ter) c.1157C>G (p.Thr386Ser) c.1133C>G (p.Thr378Ser) c.1199C>G (p.Thr400Ser) c.716C>G (p.Thr239Ser) c.740C>G (p.Thr247Ser) | gnomAD v4 |
| 5 | g.162153100C>T | CA362183189 | GABRG2 | c.1161C>T c.1256C>T (p.Thr419Ile) c.1219C>T n.414C>T c.851C>T (p.Thr284Ile) c.875C>T (p.Thr292Ile) c.*3757C>T (n.*3757C>T) c.1037C>T c.527C>T (p.Thr176Ile) c.1136C>T (p.Thr379Ile) c.1160C>T (p.Thr387Ile) c.1823C>T (n.1823C>T) c.*1341C>T (n.*1341C>T) c.*360C>T (n.*360C>T) c.1094C>T (p.Thr365Ile) c.1070C>T (p.Thr357Ile) n.434C>T n.6107C>T c.598C>T c.1073C>T (p.Thr358Ile) c.1229C>T (p.Thr410Ile) c.1280C>T (p.Thr427Ile) c.*738C>T (n.*738C>T) c.1257C>T (n.1257C>T) c.1151C>T (p.Thr384Ile) c.954C>T (p.Tyr318=) c.1157C>T (p.Thr386Ile) c.1133C>T (p.Thr378Ile) c.1199C>T (p.Thr400Ile) c.716C>T (p.Thr239Ile) c.740C>T (p.Thr247Ile) | COSMIC |
| 5 | g.162153101C>A | CA447691480 | GABRG2 | c.1162C>A c.1257C>A (p.Thr419=) c.1220C>A n.415C>A c.852C>A (p.Thr284=) c.876C>A (p.Thr292=) c.*3758C>A (n.*3758C>A) c.1038C>A c.528C>A (p.Thr176=) c.1137C>A (p.Thr379=) c.1161C>A (p.Thr387=) c.1824C>A (n.1824C>A) c.*1342C>A (n.*1342C>A) c.*361C>A (n.*361C>A) c.1095C>A (p.Thr365=) c.1071C>A (p.Thr357=) n.435C>A n.6108C>A c.599C>A c.1074C>A (p.Thr358=) c.1230C>A (p.Thr410=) c.1281C>A (p.Thr427=) c.*739C>A (n.*739C>A) c.1258C>A (n.1258C>A) c.1152C>A (p.Thr384=) c.955C>A (p.His319Asn) c.1158C>A (p.Thr386=) c.1134C>A (p.Thr378=) c.1200C>A (p.Thr400=) c.717C>A (p.Thr239=) c.741C>A (p.Thr247=) | gnomAD v4 |
| 5 | g.162153101C>G | CA447691481 | GABRG2 | c.1162C>G c.1257C>G (p.Thr419=) c.1220C>G n.415C>G c.852C>G (p.Thr284=) c.876C>G (p.Thr292=) c.*3758C>G (n.*3758C>G) c.1038C>G c.528C>G (p.Thr176=) c.1137C>G (p.Thr379=) c.1161C>G (p.Thr387=) c.1824C>G (n.1824C>G) c.*1342C>G (n.*1342C>G) c.*361C>G (n.*361C>G) c.1095C>G (p.Thr365=) c.1071C>G (p.Thr357=) n.435C>G n.6108C>G c.599C>G c.1074C>G (p.Thr358=) c.1230C>G (p.Thr410=) c.1281C>G (p.Thr427=) c.*739C>G (n.*739C>G) c.1258C>G (n.1258C>G) c.1152C>G (p.Thr384=) c.955C>G (p.His319Asp) c.1158C>G (p.Thr386=) c.1134C>G (p.Thr378=) c.1200C>G (p.Thr400=) c.717C>G (p.Thr239=) c.741C>G (p.Thr247=) | |
| 5 | g.162153101C>T | CA447691482 | GABRG2 | c.1162C>T c.1257C>T (p.Thr419=) c.1220C>T n.415C>T c.852C>T (p.Thr284=) c.876C>T (p.Thr292=) c.*3758C>T (n.*3758C>T) c.1038C>T c.528C>T (p.Thr176=) c.1137C>T (p.Thr379=) c.1161C>T (p.Thr387=) c.1824C>T (n.1824C>T) c.*1342C>T (n.*1342C>T) c.*361C>T (n.*361C>T) c.1095C>T (p.Thr365=) c.1071C>T (p.Thr357=) n.435C>T n.6108C>T c.599C>T c.1074C>T (p.Thr358=) c.1230C>T (p.Thr410=) c.1281C>T (p.Thr427=) c.*739C>T (n.*739C>T) c.1258C>T (n.1258C>T) c.1152C>T (p.Thr384=) c.955C>T (p.His319Tyr) c.1158C>T (p.Thr386=) c.1134C>T (p.Thr378=) c.1200C>T (p.Thr400=) c.717C>T (p.Thr239=) c.741C>T (p.Thr247=) | |
| 5 | g.162153102A>C | CA362183192 | GABRG2 | c.1163A>C c.1258A>C (p.Ile420Leu) c.1221A>C n.416A>C c.853A>C (p.Ile285Leu) c.877A>C (p.Ile293Leu) c.*3759A>C (n.*3759A>C) c.1039A>C c.529A>C (p.Ile177Leu) c.1138A>C (p.Ile380Leu) c.1162A>C (p.Ile388Leu) c.1825A>C (n.1825A>C) c.*1343A>C (n.*1343A>C) c.*362A>C (n.*362A>C) c.1096A>C (p.Ile366Leu) c.1072A>C (p.Ile358Leu) n.436A>C n.6109A>C c.600A>C c.1075A>C (p.Ile359Leu) c.1231A>C (p.Ile411Leu) c.1282A>C (p.Ile428Leu) c.*740A>C (n.*740A>C) c.1259A>C (n.1259A>C) c.1153A>C (p.Ile385Leu) c.956A>C (p.His319Pro) c.1159A>C (p.Ile387Leu) c.1135A>C (p.Ile379Leu) c.1201A>C (p.Ile401Leu) c.718A>C (p.Ile240Leu) c.742A>C (p.Ile248Leu) | |
| 5 | g.162153102A>G | CA362183193 | GABRG2 | c.1163A>G c.1258A>G (p.Ile420Val) c.1221A>G n.416A>G c.853A>G (p.Ile285Val) c.877A>G (p.Ile293Val) c.*3759A>G (n.*3759A>G) c.1039A>G c.529A>G (p.Ile177Val) c.1138A>G (p.Ile380Val) c.1162A>G (p.Ile388Val) c.1825A>G (n.1825A>G) c.*1343A>G (n.*1343A>G) c.*362A>G (n.*362A>G) c.1096A>G (p.Ile366Val) c.1072A>G (p.Ile358Val) n.436A>G n.6109A>G c.600A>G c.1075A>G (p.Ile359Val) c.1231A>G (p.Ile411Val) c.1282A>G (p.Ile428Val) c.*740A>G (n.*740A>G) c.1259A>G (n.1259A>G) c.1153A>G (p.Ile385Val) c.956A>G (p.His319Arg) c.1159A>G (p.Ile387Val) c.1135A>G (p.Ile379Val) c.1201A>G (p.Ile401Val) c.718A>G (p.Ile240Val) c.742A>G (p.Ile248Val) | |
| 5 | g.162153102A>T | CA362183194 | GABRG2 | c.1163A>T c.1258A>T (p.Ile420Phe) c.1221A>T n.416A>T c.853A>T (p.Ile285Phe) c.877A>T (p.Ile293Phe) c.*3759A>T (n.*3759A>T) c.1039A>T c.529A>T (p.Ile177Phe) c.1138A>T (p.Ile380Phe) c.1162A>T (p.Ile388Phe) c.1825A>T (n.1825A>T) c.*1343A>T (n.*1343A>T) c.*362A>T (n.*362A>T) c.1096A>T (p.Ile366Phe) c.1072A>T (p.Ile358Phe) n.436A>T n.6109A>T c.600A>T c.1075A>T (p.Ile359Phe) c.1231A>T (p.Ile411Phe) c.1282A>T (p.Ile428Phe) c.*740A>T (n.*740A>T) c.1259A>T (n.1259A>T) c.1153A>T (p.Ile385Phe) c.956A>T (p.His319Leu) c.1159A>T (p.Ile387Phe) c.1135A>T (p.Ile379Phe) c.1201A>T (p.Ile401Phe) c.718A>T (p.Ile240Phe) c.742A>T (p.Ile248Phe) | |
| 5 | g.162153103T>A | CA362183195 | GABRG2 | c.1164T>A c.1259T>A (p.Ile420Asn) c.1222T>A n.417T>A c.854T>A (p.Ile285Asn) c.878T>A (p.Ile293Asn) c.*3760T>A (n.*3760T>A) c.1040T>A c.530T>A (p.Ile177Asn) c.1139T>A (p.Ile380Asn) c.1163T>A (p.Ile388Asn) c.1826T>A (n.1826T>A) c.*1344T>A (n.*1344T>A) c.*363T>A (n.*363T>A) c.1097T>A (p.Ile366Asn) c.1073T>A (p.Ile358Asn) n.437T>A n.6110T>A c.601T>A c.1076T>A (p.Ile359Asn) c.1232T>A (p.Ile411Asn) c.1283T>A (p.Ile428Asn) c.*741T>A (n.*741T>A) c.1260T>A (n.1260T>A) c.1154T>A (p.Ile385Asn) c.957T>A (p.His319Gln) c.1160T>A (p.Ile387Asn) c.1136T>A (p.Ile379Asn) c.1202T>A (p.Ile401Asn) c.719T>A (p.Ile240Asn) c.743T>A (p.Ile248Asn) | COSMIC |
| 5 | g.162153103T>C | CA362183196 | GABRG2 | c.1164T>C c.1259T>C (p.Ile420Thr) c.1222T>C n.417T>C c.854T>C (p.Ile285Thr) c.878T>C (p.Ile293Thr) c.*3760T>C (n.*3760T>C) c.1040T>C c.530T>C (p.Ile177Thr) c.1139T>C (p.Ile380Thr) c.1163T>C (p.Ile388Thr) c.1826T>C (n.1826T>C) c.*1344T>C (n.*1344T>C) c.*363T>C (n.*363T>C) c.1097T>C (p.Ile366Thr) c.1073T>C (p.Ile358Thr) n.437T>C n.6110T>C c.601T>C c.1076T>C (p.Ile359Thr) c.1232T>C (p.Ile411Thr) c.1283T>C (p.Ile428Thr) c.*741T>C (n.*741T>C) c.1260T>C (n.1260T>C) c.1154T>C (p.Ile385Thr) c.957T>C (p.His319=) c.1160T>C (p.Ile387Thr) c.1136T>C (p.Ile379Thr) c.1202T>C (p.Ile401Thr) c.719T>C (p.Ile240Thr) c.743T>C (p.Ile248Thr) | |
| 5 | g.162153103T>G | CA362183197 | GABRG2 | c.1164T>G c.1259T>G (p.Ile420Ser) c.1222T>G n.417T>G c.854T>G (p.Ile285Ser) c.878T>G (p.Ile293Ser) c.*3760T>G (n.*3760T>G) c.1040T>G c.530T>G (p.Ile177Ser) c.1139T>G (p.Ile380Ser) c.1163T>G (p.Ile388Ser) c.1826T>G (n.1826T>G) c.*1344T>G (n.*1344T>G) c.*363T>G (n.*363T>G) c.1097T>G (p.Ile366Ser) c.1073T>G (p.Ile358Ser) n.437T>G n.6110T>G c.601T>G c.1076T>G (p.Ile359Ser) c.1232T>G (p.Ile411Ser) c.1283T>G (p.Ile428Ser) c.*741T>G (n.*741T>G) c.1260T>G (n.1260T>G) c.1154T>G (p.Ile385Ser) c.957T>G (p.His319Gln) c.1160T>G (p.Ile387Ser) c.1136T>G (p.Ile379Ser) c.1202T>G (p.Ile401Ser) c.719T>G (p.Ile240Ser) c.743T>G (p.Ile248Ser) | |
| 5 | g.162153104T>A | CA447691486 | GABRG2 | c.1165T>A c.1260T>A (p.Ile420=) c.1223T>A n.418T>A c.855T>A (p.Ile285=) c.879T>A (p.Ile293=) c.*3761T>A (n.*3761T>A) c.1041T>A c.531T>A (p.Ile177=) c.1140T>A (p.Ile380=) c.1164T>A (p.Ile388=) c.1827T>A (n.1827T>A) c.*1345T>A (n.*1345T>A) c.*364T>A (n.*364T>A) c.1098T>A (p.Ile366=) c.1074T>A (p.Ile358=) n.438T>A n.6111T>A c.602T>A c.1077T>A (p.Ile359=) c.1233T>A (p.Ile411=) c.1284T>A (p.Ile428=) c.*742T>A (n.*742T>A) c.1261T>A (n.1261T>A) c.1155T>A (p.Ile385=) c.958T>A (p.Ter320Arg) c.1161T>A (p.Ile387=) c.1137T>A (p.Ile379=) c.1203T>A (p.Ile401=) c.720T>A (p.Ile240=) c.744T>A (p.Ile248=) | |
| 5 | g.162153104T>C | CA447691487 | GABRG2 | c.1165T>C c.1260T>C (p.Ile420=) c.1223T>C n.418T>C c.855T>C (p.Ile285=) c.879T>C (p.Ile293=) c.*3761T>C (n.*3761T>C) c.1041T>C c.531T>C (p.Ile177=) c.1140T>C (p.Ile380=) c.1164T>C (p.Ile388=) c.1827T>C (n.1827T>C) c.*1345T>C (n.*1345T>C) c.*364T>C (n.*364T>C) c.1098T>C (p.Ile366=) c.1074T>C (p.Ile358=) n.438T>C n.6111T>C c.602T>C c.1077T>C (p.Ile359=) c.1233T>C (p.Ile411=) c.1284T>C (p.Ile428=) c.*742T>C (n.*742T>C) c.1261T>C (n.1261T>C) c.1155T>C (p.Ile385=) c.958T>C (p.Ter320Arg) c.1161T>C (p.Ile387=) c.1137T>C (p.Ile379=) c.1203T>C (p.Ile401=) c.720T>C (p.Ile240=) c.744T>C (p.Ile248=) | |
| 5 | g.162153104T>G | CA362183198 | GABRG2 | c.1165T>G c.1260T>G (p.Ile420Met) c.1223T>G n.418T>G c.855T>G (p.Ile285Met) c.879T>G (p.Ile293Met) c.*3761T>G (n.*3761T>G) c.1041T>G c.531T>G (p.Ile177Met) c.1140T>G (p.Ile380Met) c.1164T>G (p.Ile388Met) c.1827T>G (n.1827T>G) c.*1345T>G (n.*1345T>G) c.*364T>G (n.*364T>G) c.1098T>G (p.Ile366Met) c.1074T>G (p.Ile358Met) n.438T>G n.6111T>G c.602T>G c.1077T>G (p.Ile359Met) c.1233T>G (p.Ile411Met) c.1284T>G (p.Ile428Met) c.*742T>G (n.*742T>G) c.1261T>G (n.1261T>G) c.1155T>G (p.Ile385Met) c.958T>G (p.Ter320Gly) c.1161T>G (p.Ile387Met) c.1137T>G (p.Ile379Met) c.1203T>G (p.Ile401Met) c.720T>G (p.Ile240Met) c.744T>G (p.Ile248Met) | |
| 5 | g.162153105G>A | CA362183199 | GABRG2 | c.1166G>A c.1261G>A (p.Asp421Asn) c.1224G>A n.419G>A c.856G>A (p.Asp286Asn) c.880G>A (p.Asp294Asn) c.*3762G>A (n.*3762G>A) c.1042G>A c.532G>A (p.Asp178Asn) c.1141G>A (p.Asp381Asn) c.1165G>A (p.Asp389Asn) c.1828G>A (n.1828G>A) c.*1346G>A (n.*1346G>A) c.*365G>A (n.*365G>A) c.1099G>A (p.Asp367Asn) c.1075G>A (p.Asp359Asn) n.439G>A n.6112G>A c.603G>A c.1078G>A (p.Asp360Asn) c.1234G>A (p.Asp412Asn) c.1285G>A (p.Asp429Asn) c.*743G>A (n.*743G>A) c.1262G>A (n.1262G>A) c.1156G>A (p.Asp386Asn) c.959G>A (p.Ter320=) c.1162G>A (p.Asp388Asn) c.1138G>A (p.Asp380Asn) c.1204G>A (p.Asp402Asn) c.721G>A (p.Asp241Asn) c.745G>A (p.Asp249Asn) | COSMIC |
| 5 | g.162153105G>C | CA362183200 | GABRG2 | c.1166G>C c.1261G>C (p.Asp421His) c.1224G>C n.419G>C c.856G>C (p.Asp286His) c.880G>C (p.Asp294His) c.*3762G>C (n.*3762G>C) c.1042G>C c.532G>C (p.Asp178His) c.1141G>C (p.Asp381His) c.1165G>C (p.Asp389His) c.1828G>C (n.1828G>C) c.*1346G>C (n.*1346G>C) c.*365G>C (n.*365G>C) c.1099G>C (p.Asp367His) c.1075G>C (p.Asp359His) n.439G>C n.6112G>C c.603G>C c.1078G>C (p.Asp360His) c.1234G>C (p.Asp412His) c.1285G>C (p.Asp429His) c.*743G>C (n.*743G>C) c.1262G>C (n.1262G>C) c.1156G>C (p.Asp386His) c.959G>C (p.Ter320Ser) c.1162G>C (p.Asp388His) c.1138G>C (p.Asp380His) c.1204G>C (p.Asp402His) c.721G>C (p.Asp241His) c.745G>C (p.Asp249His) | |
| 5 | g.162153105G>T | CA362183201 | GABRG2 | c.1166G>T c.1261G>T (p.Asp421Tyr) c.1224G>T n.419G>T c.856G>T (p.Asp286Tyr) c.880G>T (p.Asp294Tyr) c.*3762G>T (n.*3762G>T) c.1042G>T c.532G>T (p.Asp178Tyr) c.1141G>T (p.Asp381Tyr) c.1165G>T (p.Asp389Tyr) c.1828G>T (n.1828G>T) c.*1346G>T (n.*1346G>T) c.*365G>T (n.*365G>T) c.1099G>T (p.Asp367Tyr) c.1075G>T (p.Asp359Tyr) n.439G>T n.6112G>T c.603G>T c.1078G>T (p.Asp360Tyr) c.1234G>T (p.Asp412Tyr) c.1285G>T (p.Asp429Tyr) c.*743G>T (n.*743G>T) c.1262G>T (n.1262G>T) c.1156G>T (p.Asp386Tyr) c.959G>T (p.Ter320Leu) c.1162G>T (p.Asp388Tyr) c.1138G>T (p.Asp380Tyr) c.1204G>T (p.Asp402Tyr) c.721G>T (p.Asp241Tyr) c.745G>T (p.Asp249Tyr) | gnomAD v4 |
| 5 | g.162153106A>C | CA362183202 | GABRG2 | c.1167A>C c.1262A>C (p.Asp421Ala) c.1225A>C n.420A>C c.857A>C (p.Asp286Ala) c.881A>C (p.Asp294Ala) c.*3763A>C (n.*3763A>C) c.1043A>C c.533A>C (p.Asp178Ala) c.1142A>C (p.Asp381Ala) c.1166A>C (p.Asp389Ala) c.1829A>C (n.1829A>C) c.*1347A>C (n.*1347A>C) c.*366A>C (n.*366A>C) c.1100A>C (p.Asp367Ala) c.1076A>C (p.Asp359Ala) n.440A>C n.6113A>C c.604A>C c.1079A>C (p.Asp360Ala) c.1235A>C (p.Asp412Ala) c.1286A>C (p.Asp429Ala) c.*744A>C (n.*744A>C) c.1263A>C (n.1263A>C) c.1157A>C (p.Asp386Ala) c.960A>C (p.Ter320Cys) c.1163A>C (p.Asp388Ala) c.1139A>C (p.Asp380Ala) c.1205A>C (p.Asp402Ala) c.722A>C (p.Asp241Ala) c.746A>C (p.Asp249Ala) | |
| 5 | g.162153106A>G | CA362183203 | GABRG2 | c.1167A>G c.1262A>G (p.Asp421Gly) c.1225A>G n.420A>G c.857A>G (p.Asp286Gly) c.881A>G (p.Asp294Gly) c.*3763A>G (n.*3763A>G) c.1043A>G c.533A>G (p.Asp178Gly) c.1142A>G (p.Asp381Gly) c.1166A>G (p.Asp389Gly) c.1829A>G (n.1829A>G) c.*1347A>G (n.*1347A>G) c.*366A>G (n.*366A>G) c.1100A>G (p.Asp367Gly) c.1076A>G (p.Asp359Gly) n.440A>G n.6113A>G c.604A>G c.1079A>G (p.Asp360Gly) c.1235A>G (p.Asp412Gly) c.1286A>G (p.Asp429Gly) c.*744A>G (n.*744A>G) c.1263A>G (n.1263A>G) c.1157A>G (p.Asp386Gly) c.960A>G (p.Ter320Trp) c.1163A>G (p.Asp388Gly) c.1139A>G (p.Asp380Gly) c.1205A>G (p.Asp402Gly) c.722A>G (p.Asp241Gly) c.746A>G (p.Asp249Gly) | |
| 5 | g.162153106A>T | CA362183204 | GABRG2 | c.1167A>T c.1262A>T (p.Asp421Val) c.1225A>T n.420A>T c.857A>T (p.Asp286Val) c.881A>T (p.Asp294Val) c.*3763A>T (n.*3763A>T) c.1043A>T c.533A>T (p.Asp178Val) c.1142A>T (p.Asp381Val) c.1166A>T (p.Asp389Val) c.1829A>T (n.1829A>T) c.*1347A>T (n.*1347A>T) c.*366A>T (n.*366A>T) c.1100A>T (p.Asp367Val) c.1076A>T (p.Asp359Val) n.440A>T n.6113A>T c.604A>T c.1079A>T (p.Asp360Val) c.1235A>T (p.Asp412Val) c.1286A>T (p.Asp429Val) c.*744A>T (n.*744A>T) c.1263A>T (n.1263A>T) c.1157A>T (p.Asp386Val) c.960A>T (p.Ter320Cys) c.1163A>T (p.Asp388Val) c.1139A>T (p.Asp380Val) c.1205A>T (p.Asp402Val) c.722A>T (p.Asp241Val) c.746A>T (p.Asp249Val) | |
| 5 | g.162153107T>A | CA362183206 | GABRG2 | c.1168T>A c.1263T>A (p.Asp421Glu) c.1226T>A n.421T>A c.858T>A (p.Asp286Glu) c.882T>A (p.Asp294Glu) c.*3764T>A (n.*3764T>A) c.1044T>A c.534T>A (p.Asp178Glu) c.1143T>A (p.Asp381Glu) c.1167T>A (p.Asp389Glu) c.1830T>A (n.1830T>A) c.*1348T>A (n.*1348T>A) c.*367T>A (n.*367T>A) c.1101T>A (p.Asp367Glu) c.1077T>A (p.Asp359Glu) n.441T>A n.6114T>A c.605T>A c.1080T>A (p.Asp360Glu) c.1236T>A (p.Asp412Glu) c.1287T>A (p.Asp429Glu) c.*745T>A (n.*745T>A) c.1264T>A (n.1264T>A) c.1158T>A (p.Asp386Glu) c.*1T>A (n.*1T>A) c.1164T>A (p.Asp388Glu) c.1140T>A (p.Asp380Glu) c.1206T>A (p.Asp402Glu) c.723T>A (p.Asp241Glu) c.747T>A (p.Asp249Glu) | |
| 5 | g.162153107T>C | CA447691520 | GABRG2 | c.1168T>C c.1263T>C (p.Asp421=) c.1226T>C n.421T>C c.858T>C (p.Asp286=) c.882T>C (p.Asp294=) c.*3764T>C (n.*3764T>C) c.1044T>C c.534T>C (p.Asp178=) c.1143T>C (p.Asp381=) c.1167T>C (p.Asp389=) c.1830T>C (n.1830T>C) c.*1348T>C (n.*1348T>C) c.*367T>C (n.*367T>C) c.1101T>C (p.Asp367=) c.1077T>C (p.Asp359=) n.441T>C n.6114T>C c.605T>C c.1080T>C (p.Asp360=) c.1236T>C (p.Asp412=) c.1287T>C (p.Asp429=) c.*745T>C (n.*745T>C) c.1264T>C (n.1264T>C) c.1158T>C (p.Asp386=) c.*1T>C (n.*1T>C) c.1164T>C (p.Asp388=) c.1140T>C (p.Asp380=) c.1206T>C (p.Asp402=) c.723T>C (p.Asp241=) c.747T>C (p.Asp249=) | |
| 5 | g.162153107T>G | CA362183205 | GABRG2 | c.1168T>G c.1263T>G (p.Asp421Glu) c.1226T>G n.421T>G c.858T>G (p.Asp286Glu) c.882T>G (p.Asp294Glu) c.*3764T>G (n.*3764T>G) c.1044T>G c.534T>G (p.Asp178Glu) c.1143T>G (p.Asp381Glu) c.1167T>G (p.Asp389Glu) c.1830T>G (n.1830T>G) c.*1348T>G (n.*1348T>G) c.*367T>G (n.*367T>G) c.1101T>G (p.Asp367Glu) c.1077T>G (p.Asp359Glu) n.441T>G n.6114T>G c.605T>G c.1080T>G (p.Asp360Glu) c.1236T>G (p.Asp412Glu) c.1287T>G (p.Asp429Glu) c.*745T>G (n.*745T>G) c.1264T>G (n.1264T>G) c.1158T>G (p.Asp386Glu) c.*1T>G (n.*1T>G) c.1164T>G (p.Asp388Glu) c.1140T>G (p.Asp380Glu) c.1206T>G (p.Asp402Glu) c.723T>G (p.Asp241Glu) c.747T>G (p.Asp249Glu) | |
| 5 | g.162153108A>C | CA362183207 | GABRG2 | c.1169A>C c.1264A>C (p.Ile422Leu) c.1227A>C n.422A>C c.859A>C (p.Ile287Leu) c.883A>C (p.Ile295Leu) c.*3765A>C (n.*3765A>C) c.1045A>C c.535A>C (p.Ile179Leu) c.1144A>C (p.Ile382Leu) c.1168A>C (p.Ile390Leu) c.1831A>C (n.1831A>C) c.*1349A>C (n.*1349A>C) c.*368A>C (n.*368A>C) c.1102A>C (p.Ile368Leu) c.1078A>C (p.Ile360Leu) n.442A>C n.6115A>C c.606A>C c.1081A>C (p.Ile361Leu) c.1237A>C (p.Ile413Leu) c.1288A>C (p.Ile430Leu) c.*746A>C (n.*746A>C) c.1265A>C (n.1265A>C) c.1159A>C (p.Ile387Leu) c.*2A>C (n.*2A>C) c.1165A>C (p.Ile389Leu) c.1141A>C (p.Ile381Leu) c.1207A>C (p.Ile403Leu) c.724A>C (p.Ile242Leu) c.748A>C (p.Ile250Leu) | |
| 5 | g.162153108A>G | CA362183208 | GABRG2 | c.1169A>G c.1264A>G (p.Ile422Val) c.1227A>G n.422A>G c.859A>G (p.Ile287Val) c.883A>G (p.Ile295Val) c.*3765A>G (n.*3765A>G) c.1045A>G c.535A>G (p.Ile179Val) c.1144A>G (p.Ile382Val) c.1168A>G (p.Ile390Val) c.1831A>G (n.1831A>G) c.*1349A>G (n.*1349A>G) c.*368A>G (n.*368A>G) c.1102A>G (p.Ile368Val) c.1078A>G (p.Ile360Val) n.442A>G n.6115A>G c.606A>G c.1081A>G (p.Ile361Val) c.1237A>G (p.Ile413Val) c.1288A>G (p.Ile430Val) c.*746A>G (n.*746A>G) c.1265A>G (n.1265A>G) c.1159A>G (p.Ile387Val) c.*2A>G (n.*2A>G) c.1165A>G (p.Ile389Val) c.1141A>G (p.Ile381Val) c.1207A>G (p.Ile403Val) c.724A>G (p.Ile242Val) c.748A>G (p.Ile250Val) | gnomAD v4 |
| 5 | g.162153108A>T | CA362183209 | GABRG2 | c.1169A>T c.1264A>T (p.Ile422Phe) c.1227A>T n.422A>T c.859A>T (p.Ile287Phe) c.883A>T (p.Ile295Phe) c.*3765A>T (n.*3765A>T) c.1045A>T c.535A>T (p.Ile179Phe) c.1144A>T (p.Ile382Phe) c.1168A>T (p.Ile390Phe) c.1831A>T (n.1831A>T) c.*1349A>T (n.*1349A>T) c.*368A>T (n.*368A>T) c.1102A>T (p.Ile368Phe) c.1078A>T (p.Ile360Phe) n.442A>T n.6115A>T c.606A>T c.1081A>T (p.Ile361Phe) c.1237A>T (p.Ile413Phe) c.1288A>T (p.Ile430Phe) c.*746A>T (n.*746A>T) c.1265A>T (n.1265A>T) c.1159A>T (p.Ile387Phe) c.*2A>T (n.*2A>T) c.1165A>T (p.Ile389Phe) c.1141A>T (p.Ile381Phe) c.1207A>T (p.Ile403Phe) c.724A>T (p.Ile242Phe) c.748A>T (p.Ile250Phe) | |
| 5 | g.162153109T>A | CA362183210 | GABRG2 | c.1170T>A c.1265T>A (p.Ile422Asn) c.1228T>A n.423T>A c.860T>A (p.Ile287Asn) c.884T>A (p.Ile295Asn) c.*3766T>A (n.*3766T>A) c.1046T>A c.536T>A (p.Ile179Asn) c.1145T>A (p.Ile382Asn) c.1169T>A (p.Ile390Asn) c.1832T>A (n.1832T>A) c.*1350T>A (n.*1350T>A) c.*369T>A (n.*369T>A) c.1103T>A (p.Ile368Asn) c.1079T>A (p.Ile360Asn) n.443T>A n.6116T>A c.607T>A c.1082T>A (p.Ile361Asn) c.1238T>A (p.Ile413Asn) c.1289T>A (p.Ile430Asn) c.*747T>A (n.*747T>A) c.1266T>A (n.1266T>A) c.1160T>A (p.Ile387Asn) c.*3T>A (n.*3T>A) c.1166T>A (p.Ile389Asn) c.1142T>A (p.Ile381Asn) c.1208T>A (p.Ile403Asn) c.725T>A (p.Ile242Asn) c.749T>A (p.Ile250Asn) | gnomAD v4 |
| 5 | g.162153109T>C | CA362183211 | GABRG2 | c.1170T>C c.1265T>C (p.Ile422Thr) c.1228T>C n.423T>C c.860T>C (p.Ile287Thr) c.884T>C (p.Ile295Thr) c.*3766T>C (n.*3766T>C) c.1046T>C c.536T>C (p.Ile179Thr) c.1145T>C (p.Ile382Thr) c.1169T>C (p.Ile390Thr) c.1832T>C (n.1832T>C) c.*1350T>C (n.*1350T>C) c.*369T>C (n.*369T>C) c.1103T>C (p.Ile368Thr) c.1079T>C (p.Ile360Thr) n.443T>C n.6116T>C c.607T>C c.1082T>C (p.Ile361Thr) c.1238T>C (p.Ile413Thr) c.1289T>C (p.Ile430Thr) c.*747T>C (n.*747T>C) c.1266T>C (n.1266T>C) c.1160T>C (p.Ile387Thr) c.*3T>C (n.*3T>C) c.1166T>C (p.Ile389Thr) c.1142T>C (p.Ile381Thr) c.1208T>C (p.Ile403Thr) c.725T>C (p.Ile242Thr) c.749T>C (p.Ile250Thr) | |
| 5 | g.162153109T>G | CA362183212 | GABRG2 | c.1170T>G c.1265T>G (p.Ile422Ser) c.1228T>G n.423T>G c.860T>G (p.Ile287Ser) c.884T>G (p.Ile295Ser) c.*3766T>G (n.*3766T>G) c.1046T>G c.536T>G (p.Ile179Ser) c.1145T>G (p.Ile382Ser) c.1169T>G (p.Ile390Ser) c.1832T>G (n.1832T>G) c.*1350T>G (n.*1350T>G) c.*369T>G (n.*369T>G) c.1103T>G (p.Ile368Ser) c.1079T>G (p.Ile360Ser) n.443T>G n.6116T>G c.607T>G c.1082T>G (p.Ile361Ser) c.1238T>G (p.Ile413Ser) c.1289T>G (p.Ile430Ser) c.*747T>G (n.*747T>G) c.1266T>G (n.1266T>G) c.1160T>G (p.Ile387Ser) c.*3T>G (n.*3T>G) c.1166T>G (p.Ile389Ser) c.1142T>G (p.Ile381Ser) c.1208T>G (p.Ile403Ser) c.725T>G (p.Ile242Ser) c.749T>G (p.Ile250Ser) | |
| 5 | g.162153110C>A | CA447691525 | GABRG2 | c.1171C>A c.1266C>A (p.Ile422=) c.1229C>A n.424C>A c.861C>A (p.Ile287=) c.885C>A (p.Ile295=) c.*3767C>A (n.*3767C>A) c.1047C>A c.537C>A (p.Ile179=) c.1146C>A (p.Ile382=) c.1170C>A (p.Ile390=) c.1833C>A (n.1833C>A) c.*1351C>A (n.*1351C>A) c.*370C>A (n.*370C>A) c.1104C>A (p.Ile368=) c.1080C>A (p.Ile360=) n.444C>A n.6117C>A c.608C>A c.1083C>A (p.Ile361=) c.1239C>A (p.Ile413=) c.1290C>A (p.Ile430=) c.*748C>A (n.*748C>A) c.1267C>A (n.1267C>A) c.1161C>A (p.Ile387=) c.*4C>A (n.*4C>A) c.1167C>A (p.Ile389=) c.1143C>A (p.Ile381=) c.1209C>A (p.Ile403=) c.726C>A (p.Ile242=) c.750C>A (p.Ile250=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.162153110C= | CA1596381972 | GABRG2 | c.1171C= c.1266C= (p.Ile422=) c.1229C= n.424C= c.861C= (p.Ile287=) c.885C= (p.Ile295=) c.*3767C= (n.*3767C=) c.1047C= c.537C= (p.Ile179=) c.1146C= (p.Ile382=) c.1170C= (p.Ile390=) c.1833C= (n.1833C=) c.*1351C= (n.*1351C=) c.*370C= (n.*370C=) c.1104C= (p.Ile368=) c.1080C= (p.Ile360=) n.444C= n.6117C= c.608C= c.1083C= (p.Ile361=) c.1239C= (p.Ile413=) c.1290C= (p.Ile430=) c.*748C= (n.*748C=) c.1267C= (n.1267C=) c.1161C= (p.Ile387=) c.*4C= (n.*4C=) c.1167C= (p.Ile389=) c.1143C= (p.Ile381=) c.1209C= (p.Ile403=) c.726C= (p.Ile242=) c.750C= (p.Ile250=) | |
| 5 | g.162153110C>G | CA362183213 | GABRG2 | c.1171C>G c.1266C>G (p.Ile422Met) c.1229C>G n.424C>G c.861C>G (p.Ile287Met) c.885C>G (p.Ile295Met) c.*3767C>G (n.*3767C>G) c.1047C>G c.537C>G (p.Ile179Met) c.1146C>G (p.Ile382Met) c.1170C>G (p.Ile390Met) c.1833C>G (n.1833C>G) c.*1351C>G (n.*1351C>G) c.*370C>G (n.*370C>G) c.1104C>G (p.Ile368Met) c.1080C>G (p.Ile360Met) n.444C>G n.6117C>G c.608C>G c.1083C>G (p.Ile361Met) c.1239C>G (p.Ile413Met) c.1290C>G (p.Ile430Met) c.*748C>G (n.*748C>G) c.1267C>G (n.1267C>G) c.1161C>G (p.Ile387Met) c.*4C>G (n.*4C>G) c.1167C>G (p.Ile389Met) c.1143C>G (p.Ile381Met) c.1209C>G (p.Ile403Met) c.726C>G (p.Ile242Met) c.750C>G (p.Ile250Met) | |
| 5 | g.162153110C>T | CA447691526 | GABRG2 | c.1171C>T c.1266C>T (p.Ile422=) c.1229C>T n.424C>T c.861C>T (p.Ile287=) c.885C>T (p.Ile295=) c.*3767C>T (n.*3767C>T) c.1047C>T c.537C>T (p.Ile179=) c.1146C>T (p.Ile382=) c.1170C>T (p.Ile390=) c.1833C>T (n.1833C>T) c.*1351C>T (n.*1351C>T) c.*370C>T (n.*370C>T) c.1104C>T (p.Ile368=) c.1080C>T (p.Ile360=) n.444C>T n.6117C>T c.608C>T c.1083C>T (p.Ile361=) c.1239C>T (p.Ile413=) c.1290C>T (p.Ile430=) c.*748C>T (n.*748C>T) c.1267C>T (n.1267C>T) c.1161C>T (p.Ile387=) c.*4C>T (n.*4C>T) c.1167C>T (p.Ile389=) c.1143C>T (p.Ile381=) c.1209C>T (p.Ile403=) c.726C>T (p.Ile242=) c.750C>T (p.Ile250=) | gnomAD v4 COSMIC |
| 5 | g.162153111C>A | CA362183214 | GABRG2 | c.1172C>A c.1267C>A (p.Arg423Ser) c.1230C>A n.425C>A c.862C>A (p.Arg288Ser) c.886C>A (p.Arg296Ser) c.*3768C>A (n.*3768C>A) c.1048C>A c.538C>A (p.Arg180Ser) c.1147C>A (p.Arg383Ser) c.1171C>A (p.Arg391Ser) c.1834C>A (n.1834C>A) c.*1352C>A (n.*1352C>A) c.*371C>A (n.*371C>A) c.1105C>A (p.Arg369Ser) c.1081C>A (p.Arg361Ser) n.445C>A n.6118C>A c.609C>A c.1084C>A (p.Arg362Ser) c.1240C>A (p.Arg414Ser) c.1291C>A (p.Arg431Ser) c.*749C>A (n.*749C>A) c.1268C>A (n.1268C>A) c.1162C>A (p.Arg388Ser) c.*5C>A (n.*5C>A) c.1168C>A (p.Arg390Ser) c.1144C>A (p.Arg382Ser) c.1210C>A (p.Arg404Ser) c.727C>A (p.Arg243Ser) c.751C>A (p.Arg251Ser) | COSMIC |
| 5 | g.162153111C= | CA1596381973 | GABRG2 | c.1172C= c.1267C= (p.Arg423=) c.1230C= n.425C= c.862C= (p.Arg288=) c.886C= (p.Arg296=) c.*3768C= (n.*3768C=) c.1048C= c.538C= (p.Arg180=) c.1147C= (p.Arg383=) c.1171C= (p.Arg391=) c.1834C= (n.1834C=) c.*1352C= (n.*1352C=) c.*371C= (n.*371C=) c.1105C= (p.Arg369=) c.1081C= (p.Arg361=) n.445C= n.6118C= c.609C= c.1084C= (p.Arg362=) c.1240C= (p.Arg414=) c.1291C= (p.Arg431=) c.*749C= (n.*749C=) c.1268C= (n.1268C=) c.1162C= (p.Arg388=) c.*5C= (n.*5C=) c.1168C= (p.Arg390=) c.1144C= (p.Arg382=) c.1210C= (p.Arg404=) c.727C= (p.Arg243=) c.751C= (p.Arg251=) |