| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162149295_162149298delinsTAAA | CA1596380289 | GABRG2 | c.1111_1114delinsTAAA c.1230_1233delinsTAAA (p.Asp410=) c.1193_1196delinsTAAA n.364_367delinsTAAA c.825_828delinsTAAA (p.Asp275=) c.1110_1113delinsTAAA (p.Asp370=) c.987_990delinsTAAA c.501_504delinsTAAA (p.Asp167=) c.1038_1041delinsTAAA (p.Asp346=) c.*310_*313delinsTAAA (n.*310_*313delinsTAAA) c.1044_1047delinsTAAA (p.Asp348=) n.408_411delinsTAAA n.3641_3644delinsTAAA c.548_551delinsTAAA c.1023_1026delinsTAAA (p.Asp341=) c.*712_*715delinsTAAA (n.*712_*715delinsTAAA) c.1231_1234delinsTAAA (n.1231_1234delinsTAAA) c.1101_1104delinsTAAA (p.Asp367=) c.923-2435_923-2432delinsTAAA (n.923-2435_923-2432delinsTAAA) c.1107_1110delinsTAAA (p.Asp369=) c.1149_1152delinsTAAA (p.Asp383=) c.690_693delinsTAAA (p.Asp230=) | |
| 5 | g.162149298_162149300del | CA234055 | GABRG2 | c.1114_1116del c.1233_1235del (p.Lys412del) c.1196_1198del n.367_369del c.828_830del (p.Lys277del) c.1113_1115del (p.Lys372del) c.990_992del c.504_506del (p.Lys169del) c.1041_1043del (p.Lys348del) c.*313_*315del (n.*313_*315del) c.1047_1049del (p.Lys350del) n.411_413del n.3644_3646del c.551_553del c.1026_1028del (p.Lys343del) c.*715_*717del (n.*715_*717del) c.1234_1236del (n.1234_1236del) c.1104_1106del (p.Lys369del) c.923-2432_923-2430del (n.923-2432_923-2430del) c.1110_1112del (p.Lys371del) c.1152_1154del (p.Lys385del) c.693_695del (p.Lys232del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.162149298A>C | CA362182710 | GABRG2 | c.1114A>C c.1233A>C (p.Lys411Asn) c.1196A>C n.367A>C c.828A>C (p.Lys276Asn) c.1113A>C (p.Lys371Asn) c.990A>C c.504A>C (p.Lys168Asn) c.1041A>C (p.Lys347Asn) c.*313A>C (n.*313A>C) c.1047A>C (p.Lys349Asn) n.411A>C n.3644A>C c.551A>C c.1026A>C (p.Lys342Asn) c.*715A>C (n.*715A>C) c.1234A>C (n.1234A>C) c.1104A>C (p.Lys368Asn) c.923-2432A>C (n.923-2432A>C) c.1110A>C (p.Lys370Asn) c.1152A>C (p.Lys384Asn) c.693A>C (p.Lys231Asn) | |
| 5 | g.162149298A>G | CA447610351 | GABRG2 | c.1114A>G c.1233A>G (p.Lys411=) c.1196A>G n.367A>G c.828A>G (p.Lys276=) c.1113A>G (p.Lys371=) c.990A>G c.504A>G (p.Lys168=) c.1041A>G (p.Lys347=) c.*313A>G (n.*313A>G) c.1047A>G (p.Lys349=) n.411A>G n.3644A>G c.551A>G c.1026A>G (p.Lys342=) c.*715A>G (n.*715A>G) c.1234A>G (n.1234A>G) c.1104A>G (p.Lys368=) c.923-2432A>G (n.923-2432A>G) c.1110A>G (p.Lys370=) c.1152A>G (p.Lys384=) c.693A>G (p.Lys231=) | |
| 5 | g.162149298A>T | CA362182711 | GABRG2 | c.1114A>T c.1233A>T (p.Lys411Asn) c.1196A>T n.367A>T c.828A>T (p.Lys276Asn) c.1113A>T (p.Lys371Asn) c.990A>T c.504A>T (p.Lys168Asn) c.1041A>T (p.Lys347Asn) c.*313A>T (n.*313A>T) c.1047A>T (p.Lys349Asn) n.411A>T n.3644A>T c.551A>T c.1026A>T (p.Lys342Asn) c.*715A>T (n.*715A>T) c.1234A>T (n.1234A>T) c.1104A>T (p.Lys368Asn) c.923-2432A>T (n.923-2432A>T) c.1110A>T (p.Lys370Asn) c.1152A>T (p.Lys384Asn) c.693A>T (p.Lys231Asn) | |
| 5 | g.162149299A>C | CA362182712 | GABRG2 | c.1115A>C c.1234A>C (p.Lys412Gln) c.1197A>C n.368A>C c.829A>C (p.Lys277Gln) c.1114A>C (p.Lys372Gln) c.991A>C c.505A>C (p.Lys169Gln) c.1042A>C (p.Lys348Gln) c.*314A>C (n.*314A>C) c.1048A>C (p.Lys350Gln) n.412A>C n.3645A>C c.552A>C c.1027A>C (p.Lys343Gln) c.*716A>C (n.*716A>C) c.1235A>C (n.1235A>C) c.1105A>C (p.Lys369Gln) c.923-2431A>C (n.923-2431A>C) c.1111A>C (p.Lys371Gln) c.1153A>C (p.Lys385Gln) c.694A>C (p.Lys232Gln) | |
| 5 | g.162149299A>G | CA362182713 | GABRG2 | c.1115A>G c.1234A>G (p.Lys412Glu) c.1197A>G n.368A>G c.829A>G (p.Lys277Glu) c.1114A>G (p.Lys372Glu) c.991A>G c.505A>G (p.Lys169Glu) c.1042A>G (p.Lys348Glu) c.*314A>G (n.*314A>G) c.1048A>G (p.Lys350Glu) n.412A>G n.3645A>G c.552A>G c.1027A>G (p.Lys343Glu) c.*716A>G (n.*716A>G) c.1235A>G (n.1235A>G) c.1105A>G (p.Lys369Glu) c.923-2431A>G (n.923-2431A>G) c.1111A>G (p.Lys371Glu) c.1153A>G (p.Lys385Glu) c.694A>G (p.Lys232Glu) | |
| 5 | g.162149299A>T | CA362182714 | GABRG2 | c.1115A>T c.1234A>T (p.Lys412Ter) c.1197A>T n.368A>T c.829A>T (p.Lys277Ter) c.1114A>T (p.Lys372Ter) c.991A>T c.505A>T (p.Lys169Ter) c.1042A>T (p.Lys348Ter) c.*314A>T (n.*314A>T) c.1048A>T (p.Lys350Ter) n.412A>T n.3645A>T c.552A>T c.1027A>T (p.Lys343Ter) c.*716A>T (n.*716A>T) c.1235A>T (n.1235A>T) c.1105A>T (p.Lys369Ter) c.923-2431A>T (n.923-2431A>T) c.1111A>T (p.Lys371Ter) c.1153A>T (p.Lys385Ter) c.694A>T (p.Lys232Ter) | |
| 5 | g.162149304_162149306del | CA2580614790 | GABRG2 | c.1120_1122del c.1239_1241del (p.Lys414del) c.1202_1204del n.373_375del c.834_836del (p.Lys279del) c.1119_1121del (p.Lys374del) c.996_998del c.510_512del (p.Lys171del) c.1047_1049del (p.Lys350del) c.*319_*321del (n.*319_*321del) c.1053_1055del (p.Lys352del) n.417_419del n.3650_3652del c.557_559del c.1032_1034del (p.Lys345del) c.*721_*723del (n.*721_*723del) c.1240_1242del (n.1240_1242del) c.1110_1112del (p.Lys371del) c.923-2426_923-2424del (n.923-2426_923-2424del) c.1116_1118del (p.Lys373del) c.1158_1160del (p.Lys387del) c.699_701del (p.Lys234del) | ClinVar |
| 5 | g.162149300A= | CA1596380293 | GABRG2 | c.1116A= c.1235A= (p.Lys412=) c.1198A= n.369A= c.830A= (p.Lys277=) c.1115A= (p.Lys372=) c.992A= c.506A= (p.Lys169=) c.1043A= (p.Lys348=) c.*315A= (n.*315A=) c.1049A= (p.Lys350=) n.413A= n.3646A= c.553A= c.1028A= (p.Lys343=) c.*717A= (n.*717A=) c.1236A= (n.1236A=) c.1106A= (p.Lys369=) c.923-2430A= (n.923-2430A=) c.1112A= (p.Lys371=) c.1154A= (p.Lys385=) c.695A= (p.Lys232=) | |
| 5 | g.162149300A>C | CA362182717 | GABRG2 | c.1116A>C c.1235A>C (p.Lys412Thr) c.1198A>C n.369A>C c.830A>C (p.Lys277Thr) c.1115A>C (p.Lys372Thr) c.992A>C c.506A>C (p.Lys169Thr) c.1043A>C (p.Lys348Thr) c.*315A>C (n.*315A>C) c.1049A>C (p.Lys350Thr) n.413A>C n.3646A>C c.553A>C c.1028A>C (p.Lys343Thr) c.*717A>C (n.*717A>C) c.1236A>C (n.1236A>C) c.1106A>C (p.Lys369Thr) c.923-2430A>C (n.923-2430A>C) c.1112A>C (p.Lys371Thr) c.1154A>C (p.Lys385Thr) c.695A>C (p.Lys232Thr) | |
| 5 | g.162149300A>G | CA362182715 | GABRG2 | c.1116A>G c.1235A>G (p.Lys412Arg) c.1198A>G n.369A>G c.830A>G (p.Lys277Arg) c.1115A>G (p.Lys372Arg) c.992A>G c.506A>G (p.Lys169Arg) c.1043A>G (p.Lys348Arg) c.*315A>G (n.*315A>G) c.1049A>G (p.Lys350Arg) n.413A>G n.3646A>G c.553A>G c.1028A>G (p.Lys343Arg) c.*717A>G (n.*717A>G) c.1236A>G (n.1236A>G) c.1106A>G (p.Lys369Arg) c.923-2430A>G (n.923-2430A>G) c.1112A>G (p.Lys371Arg) c.1154A>G (p.Lys385Arg) c.695A>G (p.Lys232Arg) | ClinVar dbSNP |
| 5 | g.162149300A>T | CA362182716 | GABRG2 | c.1116A>T c.1235A>T (p.Lys412Met) c.1198A>T n.369A>T c.830A>T (p.Lys277Met) c.1115A>T (p.Lys372Met) c.992A>T c.506A>T (p.Lys169Met) c.1043A>T (p.Lys348Met) c.*315A>T (n.*315A>T) c.1049A>T (p.Lys350Met) n.413A>T n.3646A>T c.553A>T c.1028A>T (p.Lys343Met) c.*717A>T (n.*717A>T) c.1236A>T (n.1236A>T) c.1106A>T (p.Lys369Met) c.923-2430A>T (n.923-2430A>T) c.1112A>T (p.Lys371Met) c.1154A>T (p.Lys385Met) c.695A>T (p.Lys232Met) | |
| 5 | g.162149301G>A | CA447610352 | GABRG2 | c.1117G>A c.1236G>A (p.Lys412=) c.1199G>A n.370G>A c.831G>A (p.Lys277=) c.1116G>A (p.Lys372=) c.993G>A c.507G>A (p.Lys169=) c.1044G>A (p.Lys348=) c.*316G>A (n.*316G>A) c.1050G>A (p.Lys350=) n.414G>A n.3647G>A c.554G>A c.1029G>A (p.Lys343=) c.*718G>A (n.*718G>A) c.1237G>A (n.1237G>A) c.1107G>A (p.Lys369=) c.923-2429G>A (n.923-2429G>A) c.1113G>A (p.Lys371=) c.1155G>A (p.Lys385=) c.696G>A (p.Lys232=) | |
| 5 | g.162149301G>C | CA362182718 | GABRG2 | c.1117G>C c.1236G>C (p.Lys412Asn) c.1199G>C n.370G>C c.831G>C (p.Lys277Asn) c.1116G>C (p.Lys372Asn) c.993G>C c.507G>C (p.Lys169Asn) c.1044G>C (p.Lys348Asn) c.*316G>C (n.*316G>C) c.1050G>C (p.Lys350Asn) n.414G>C n.3647G>C c.554G>C c.1029G>C (p.Lys343Asn) c.*718G>C (n.*718G>C) c.1237G>C (n.1237G>C) c.1107G>C (p.Lys369Asn) c.923-2429G>C (n.923-2429G>C) c.1113G>C (p.Lys371Asn) c.1155G>C (p.Lys385Asn) c.696G>C (p.Lys232Asn) | |
| 5 | g.162149301G>T | CA362182719 | GABRG2 | c.1117G>T c.1236G>T (p.Lys412Asn) c.1199G>T n.370G>T c.831G>T (p.Lys277Asn) c.1116G>T (p.Lys372Asn) c.993G>T c.507G>T (p.Lys169Asn) c.1044G>T (p.Lys348Asn) c.*316G>T (n.*316G>T) c.1050G>T (p.Lys350Asn) n.414G>T n.3647G>T c.554G>T c.1029G>T (p.Lys343Asn) c.*718G>T (n.*718G>T) c.1237G>T (n.1237G>T) c.1107G>T (p.Lys369Asn) c.923-2429G>T (n.923-2429G>T) c.1113G>T (p.Lys371Asn) c.1155G>T (p.Lys385Asn) c.696G>T (p.Lys232Asn) | |
| 5 | g.162149302A>C | CA362182720 | GABRG2 | c.1118A>C c.1237A>C (p.Lys413Gln) c.1200A>C n.371A>C c.832A>C (p.Lys278Gln) c.1117A>C (p.Lys373Gln) c.994A>C c.508A>C (p.Lys170Gln) c.1045A>C (p.Lys349Gln) c.*317A>C (n.*317A>C) c.1051A>C (p.Lys351Gln) n.415A>C n.3648A>C c.555A>C c.1030A>C (p.Lys344Gln) c.*719A>C (n.*719A>C) c.1238A>C (n.1238A>C) c.1108A>C (p.Lys370Gln) c.923-2428A>C (n.923-2428A>C) c.1114A>C (p.Lys372Gln) c.1156A>C (p.Lys386Gln) c.697A>C (p.Lys233Gln) | |
| 5 | g.162149302A>G | CA362182721 | GABRG2 | c.1118A>G c.1237A>G (p.Lys413Glu) c.1200A>G n.371A>G c.832A>G (p.Lys278Glu) c.1117A>G (p.Lys373Glu) c.994A>G c.508A>G (p.Lys170Glu) c.1045A>G (p.Lys349Glu) c.*317A>G (n.*317A>G) c.1051A>G (p.Lys351Glu) n.415A>G n.3648A>G c.555A>G c.1030A>G (p.Lys344Glu) c.*719A>G (n.*719A>G) c.1238A>G (n.1238A>G) c.1108A>G (p.Lys370Glu) c.923-2428A>G (n.923-2428A>G) c.1114A>G (p.Lys372Glu) c.1156A>G (p.Lys386Glu) c.697A>G (p.Lys233Glu) | |
| 5 | g.162149302A>T | CA362182722 | GABRG2 | c.1118A>T c.1237A>T (p.Lys413Ter) c.1200A>T n.371A>T c.832A>T (p.Lys278Ter) c.1117A>T (p.Lys373Ter) c.994A>T c.508A>T (p.Lys170Ter) c.1045A>T (p.Lys349Ter) c.*317A>T (n.*317A>T) c.1051A>T (p.Lys351Ter) n.415A>T n.3648A>T c.555A>T c.1030A>T (p.Lys344Ter) c.*719A>T (n.*719A>T) c.1238A>T (n.1238A>T) c.1108A>T (p.Lys370Ter) c.923-2428A>T (n.923-2428A>T) c.1114A>T (p.Lys372Ter) c.1156A>T (p.Lys386Ter) c.697A>T (p.Lys233Ter) | |
| 5 | g.162149303A>C | CA362182723 | GABRG2 | c.1119A>C c.1238A>C (p.Lys413Thr) c.1201A>C n.372A>C c.833A>C (p.Lys278Thr) c.1118A>C (p.Lys373Thr) c.995A>C c.509A>C (p.Lys170Thr) c.1046A>C (p.Lys349Thr) c.*318A>C (n.*318A>C) c.1052A>C (p.Lys351Thr) n.416A>C n.3649A>C c.556A>C c.1031A>C (p.Lys344Thr) c.*720A>C (n.*720A>C) c.1239A>C (n.1239A>C) c.1109A>C (p.Lys370Thr) c.923-2427A>C (n.923-2427A>C) c.1115A>C (p.Lys372Thr) c.1157A>C (p.Lys386Thr) c.698A>C (p.Lys233Thr) | |
| 5 | g.162149303A>G | CA362182725 | GABRG2 | c.1119A>G c.1238A>G (p.Lys413Arg) c.1201A>G n.372A>G c.833A>G (p.Lys278Arg) c.1118A>G (p.Lys373Arg) c.995A>G c.509A>G (p.Lys170Arg) c.1046A>G (p.Lys349Arg) c.*318A>G (n.*318A>G) c.1052A>G (p.Lys351Arg) n.416A>G n.3649A>G c.556A>G c.1031A>G (p.Lys344Arg) c.*720A>G (n.*720A>G) c.1239A>G (n.1239A>G) c.1109A>G (p.Lys370Arg) c.923-2427A>G (n.923-2427A>G) c.1115A>G (p.Lys372Arg) c.1157A>G (p.Lys386Arg) c.698A>G (p.Lys233Arg) | COSMIC |
| 5 | g.162149303A>T | CA362182724 | GABRG2 | c.1119A>T c.1238A>T (p.Lys413Met) c.1201A>T n.372A>T c.833A>T (p.Lys278Met) c.1118A>T (p.Lys373Met) c.995A>T c.509A>T (p.Lys170Met) c.1046A>T (p.Lys349Met) c.*318A>T (n.*318A>T) c.1052A>T (p.Lys351Met) n.416A>T n.3649A>T c.556A>T c.1031A>T (p.Lys344Met) c.*720A>T (n.*720A>T) c.1239A>T (n.1239A>T) c.1109A>T (p.Lys370Met) c.923-2427A>T (n.923-2427A>T) c.1115A>T (p.Lys372Met) c.1157A>T (p.Lys386Met) c.698A>T (p.Lys233Met) | |
| 5 | g.162149304G>A | CA3544871 | GABRG2 | c.1120G>A c.1239G>A (p.Lys413=) c.1202G>A n.373G>A c.834G>A (p.Lys278=) c.1119G>A (p.Lys373=) c.996G>A c.510G>A (p.Lys170=) c.1047G>A (p.Lys349=) c.*319G>A (n.*319G>A) c.1053G>A (p.Lys351=) n.417G>A n.3650G>A c.557G>A c.1032G>A (p.Lys344=) c.*721G>A (n.*721G>A) c.1240G>A (n.1240G>A) c.1110G>A (p.Lys370=) c.923-2426G>A (n.923-2426G>A) c.1116G>A (p.Lys372=) c.1158G>A (p.Lys386=) c.699G>A (p.Lys233=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.162149304G>C | CA362182726 | GABRG2 | c.1120G>C c.1239G>C (p.Lys413Asn) c.1202G>C n.373G>C c.834G>C (p.Lys278Asn) c.1119G>C (p.Lys373Asn) c.996G>C c.510G>C (p.Lys170Asn) c.1047G>C (p.Lys349Asn) c.*319G>C (n.*319G>C) c.1053G>C (p.Lys351Asn) n.417G>C n.3650G>C c.557G>C c.1032G>C (p.Lys344Asn) c.*721G>C (n.*721G>C) c.1240G>C (n.1240G>C) c.1110G>C (p.Lys370Asn) c.923-2426G>C (n.923-2426G>C) c.1116G>C (p.Lys372Asn) c.1158G>C (p.Lys386Asn) c.699G>C (p.Lys233Asn) | |
| 5 | g.162149304G= | CA1596380294 | GABRG2 | c.1120G= c.1239G= (p.Lys413=) c.1202G= n.373G= c.834G= (p.Lys278=) c.1119G= (p.Lys373=) c.996G= c.510G= (p.Lys170=) c.1047G= (p.Lys349=) c.*319G= (n.*319G=) c.1053G= (p.Lys351=) n.417G= n.3650G= c.557G= c.1032G= (p.Lys344=) c.*721G= (n.*721G=) c.1240G= (n.1240G=) c.1110G= (p.Lys370=) c.923-2426G= (n.923-2426G=) c.1116G= (p.Lys372=) c.1158G= (p.Lys386=) c.699G= (p.Lys233=) | |
| 5 | g.162149304G>T | CA362182727 | GABRG2 | c.1120G>T c.1239G>T (p.Lys413Asn) c.1202G>T n.373G>T c.834G>T (p.Lys278Asn) c.1119G>T (p.Lys373Asn) c.996G>T c.510G>T (p.Lys170Asn) c.1047G>T (p.Lys349Asn) c.*319G>T (n.*319G>T) c.1053G>T (p.Lys351Asn) n.417G>T n.3650G>T c.557G>T c.1032G>T (p.Lys344Asn) c.*721G>T (n.*721G>T) c.1240G>T (n.1240G>T) c.1110G>T (p.Lys370Asn) c.923-2426G>T (n.923-2426G>T) c.1116G>T (p.Lys372Asn) c.1158G>T (p.Lys386Asn) c.699G>T (p.Lys233Asn) | COSMIC |
| 5 | g.162149305A>C | CA362182728 | GABRG2 | c.1121A>C c.1240A>C (p.Lys414Gln) c.1203A>C n.374A>C c.835A>C (p.Lys279Gln) c.1120A>C (p.Lys374Gln) c.997A>C c.511A>C (p.Lys171Gln) c.1048A>C (p.Lys350Gln) c.*320A>C (n.*320A>C) c.1054A>C (p.Lys352Gln) n.418A>C n.3651A>C c.558A>C c.1033A>C (p.Lys345Gln) c.*722A>C (n.*722A>C) c.1241A>C (n.1241A>C) c.1111A>C (p.Lys371Gln) c.923-2425A>C (n.923-2425A>C) c.1117A>C (p.Lys373Gln) c.1159A>C (p.Lys387Gln) c.700A>C (p.Lys234Gln) | |
| 5 | g.162149305A>G | CA362182729 | GABRG2 | c.1121A>G c.1240A>G (p.Lys414Glu) c.1203A>G n.374A>G c.835A>G (p.Lys279Glu) c.1120A>G (p.Lys374Glu) c.997A>G c.511A>G (p.Lys171Glu) c.1048A>G (p.Lys350Glu) c.*320A>G (n.*320A>G) c.1054A>G (p.Lys352Glu) n.418A>G n.3651A>G c.558A>G c.1033A>G (p.Lys345Glu) c.*722A>G (n.*722A>G) c.1241A>G (n.1241A>G) c.1111A>G (p.Lys371Glu) c.923-2425A>G (n.923-2425A>G) c.1117A>G (p.Lys373Glu) c.1159A>G (p.Lys387Glu) c.700A>G (p.Lys234Glu) | |
| 5 | g.162149305A>T | CA362182730 | GABRG2 | c.1121A>T c.1240A>T (p.Lys414Ter) c.1203A>T n.374A>T c.835A>T (p.Lys279Ter) c.1120A>T (p.Lys374Ter) c.997A>T c.511A>T (p.Lys171Ter) c.1048A>T (p.Lys350Ter) c.*320A>T (n.*320A>T) c.1054A>T (p.Lys352Ter) n.418A>T n.3651A>T c.558A>T c.1033A>T (p.Lys345Ter) c.*722A>T (n.*722A>T) c.1241A>T (n.1241A>T) c.1111A>T (p.Lys371Ter) c.923-2425A>T (n.923-2425A>T) c.1117A>T (p.Lys373Ter) c.1159A>T (p.Lys387Ter) c.700A>T (p.Lys234Ter) | |
| 5 | g.162149306A>C | CA362182733 | GABRG2 | c.1122A>C c.1241A>C (p.Lys414Thr) c.1204A>C n.375A>C c.836A>C (p.Lys279Thr) c.1121A>C (p.Lys374Thr) c.998A>C c.512A>C (p.Lys171Thr) c.1049A>C (p.Lys350Thr) c.*321A>C (n.*321A>C) c.1055A>C (p.Lys352Thr) n.419A>C n.3652A>C c.559A>C c.1034A>C (p.Lys345Thr) c.*723A>C (n.*723A>C) c.1242A>C (n.1242A>C) c.1112A>C (p.Lys371Thr) c.923-2424A>C (n.923-2424A>C) c.1118A>C (p.Lys373Thr) c.1160A>C (p.Lys387Thr) c.701A>C (p.Lys234Thr) | |
| 5 | g.162149306A>G | CA362182732 | GABRG2 | c.1122A>G c.1241A>G (p.Lys414Arg) c.1204A>G n.375A>G c.836A>G (p.Lys279Arg) c.1121A>G (p.Lys374Arg) c.998A>G c.512A>G (p.Lys171Arg) c.1049A>G (p.Lys350Arg) c.*321A>G (n.*321A>G) c.1055A>G (p.Lys352Arg) n.419A>G n.3652A>G c.559A>G c.1034A>G (p.Lys345Arg) c.*723A>G (n.*723A>G) c.1242A>G (n.1242A>G) c.1112A>G (p.Lys371Arg) c.923-2424A>G (n.923-2424A>G) c.1118A>G (p.Lys373Arg) c.1160A>G (p.Lys387Arg) c.701A>G (p.Lys234Arg) | |
| 5 | g.162149306A>T | CA362182731 | GABRG2 | c.1122A>T c.1241A>T (p.Lys414Ile) c.1204A>T n.375A>T c.836A>T (p.Lys279Ile) c.1121A>T (p.Lys374Ile) c.998A>T c.512A>T (p.Lys171Ile) c.1049A>T (p.Lys350Ile) c.*321A>T (n.*321A>T) c.1055A>T (p.Lys352Ile) n.419A>T n.3652A>T c.559A>T c.1034A>T (p.Lys345Ile) c.*723A>T (n.*723A>T) c.1242A>T (n.1242A>T) c.1112A>T (p.Lys371Ile) c.923-2424A>T (n.923-2424A>T) c.1118A>T (p.Lys373Ile) c.1160A>T (p.Lys387Ile) c.701A>T (p.Lys234Ile) | |
| 5 | g.162149307A= | CA1596380295 | GABRG2 | c.1123A= c.1242A= (p.Lys414=) c.1205A= n.376A= c.837A= (p.Lys279=) c.1122A= (p.Lys374=) c.999A= c.513A= (p.Lys171=) c.1050A= (p.Lys350=) c.*322A= (n.*322A=) c.1056A= (p.Lys352=) n.420A= n.3653A= c.560A= c.1035A= (p.Lys345=) c.*724A= (n.*724A=) c.1243A= (n.1243A=) c.1113A= (p.Lys371=) c.923-2423A= (n.923-2423A=) c.1119A= (p.Lys373=) c.1161A= (p.Lys387=) c.702A= (p.Lys234=) | |
| 5 | g.162149307A>C | CA362182734 | GABRG2 | c.1123A>C c.1242A>C (p.Lys414Asn) c.1205A>C n.376A>C c.837A>C (p.Lys279Asn) c.1122A>C (p.Lys374Asn) c.999A>C c.513A>C (p.Lys171Asn) c.1050A>C (p.Lys350Asn) c.*322A>C (n.*322A>C) c.1056A>C (p.Lys352Asn) n.420A>C n.3653A>C c.560A>C c.1035A>C (p.Lys345Asn) c.*724A>C (n.*724A>C) c.1243A>C (n.1243A>C) c.1113A>C (p.Lys371Asn) c.923-2423A>C (n.923-2423A>C) c.1119A>C (p.Lys373Asn) c.1161A>C (p.Lys387Asn) c.702A>C (p.Lys234Asn) | |
| 5 | g.162149307A>G | CA3544872 | GABRG2 | c.1123A>G c.1242A>G (p.Lys414=) c.1205A>G n.376A>G c.837A>G (p.Lys279=) c.1122A>G (p.Lys374=) c.999A>G c.513A>G (p.Lys171=) c.1050A>G (p.Lys350=) c.*322A>G (n.*322A>G) c.1056A>G (p.Lys352=) n.420A>G n.3653A>G c.560A>G c.1035A>G (p.Lys345=) c.*724A>G (n.*724A>G) c.1243A>G (n.1243A>G) c.1113A>G (p.Lys371=) c.923-2423A>G (n.923-2423A>G) c.1119A>G (p.Lys373=) c.1161A>G (p.Lys387=) c.702A>G (p.Lys234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.162149307A>T | CA362182735 | GABRG2 | c.1123A>T c.1242A>T (p.Lys414Asn) c.1205A>T n.376A>T c.837A>T (p.Lys279Asn) c.1122A>T (p.Lys374Asn) c.999A>T c.513A>T (p.Lys171Asn) c.1050A>T (p.Lys350Asn) c.*322A>T (n.*322A>T) c.1056A>T (p.Lys352Asn) n.420A>T n.3653A>T c.560A>T c.1035A>T (p.Lys345Asn) c.*724A>T (n.*724A>T) c.1243A>T (n.1243A>T) c.1113A>T (p.Lys371Asn) c.923-2423A>T (n.923-2423A>T) c.1119A>T (p.Lys373Asn) c.1161A>T (p.Lys387Asn) c.702A>T (p.Lys234Asn) | |
| 5 | g.162149308A>C | CA362182736 | GABRG2 | c.1124A>C c.1243A>C (p.Asn415His) c.1206A>C n.377A>C c.838A>C (p.Asn280His) c.1123A>C (p.Asn375His) c.1000A>C c.514A>C (p.Asn172His) c.1051A>C (p.Asn351His) c.*323A>C (n.*323A>C) c.1057A>C (p.Asn353His) n.421A>C n.3654A>C c.561A>C c.1036A>C (p.Asn346His) c.*725A>C (n.*725A>C) c.1244A>C (n.1244A>C) c.1114A>C (p.Asn372His) c.923-2422A>C (n.923-2422A>C) c.1120A>C (p.Asn374His) c.1162A>C (p.Asn388His) c.703A>C (p.Asn235His) | |
| 5 | g.162149308A>G | CA362182737 | GABRG2 | c.1124A>G c.1243A>G (p.Asn415Asp) c.1206A>G n.377A>G c.838A>G (p.Asn280Asp) c.1123A>G (p.Asn375Asp) c.1000A>G c.514A>G (p.Asn172Asp) c.1051A>G (p.Asn351Asp) c.*323A>G (n.*323A>G) c.1057A>G (p.Asn353Asp) n.421A>G n.3654A>G c.561A>G c.1036A>G (p.Asn346Asp) c.*725A>G (n.*725A>G) c.1244A>G (n.1244A>G) c.1114A>G (p.Asn372Asp) c.923-2422A>G (n.923-2422A>G) c.1120A>G (p.Asn374Asp) c.1162A>G (p.Asn388Asp) c.703A>G (p.Asn235Asp) | |
| 5 | g.162149308A>T | CA362182738 | GABRG2 | c.1124A>T c.1243A>T (p.Asn415Tyr) c.1206A>T n.377A>T c.838A>T (p.Asn280Tyr) c.1123A>T (p.Asn375Tyr) c.1000A>T c.514A>T (p.Asn172Tyr) c.1051A>T (p.Asn351Tyr) c.*323A>T (n.*323A>T) c.1057A>T (p.Asn353Tyr) n.421A>T n.3654A>T c.561A>T c.1036A>T (p.Asn346Tyr) c.*725A>T (n.*725A>T) c.1244A>T (n.1244A>T) c.1114A>T (p.Asn372Tyr) c.923-2422A>T (n.923-2422A>T) c.1120A>T (p.Asn374Tyr) c.1162A>T (p.Asn388Tyr) c.703A>T (p.Asn235Tyr) | |
| 5 | g.162149309A>C | CA362182739 | GABRG2 | c.1125A>C c.1244A>C (p.Asn415Thr) c.1207A>C n.378A>C c.839A>C (p.Asn280Thr) c.1124A>C (p.Asn375Thr) c.1001A>C c.515A>C (p.Asn172Thr) c.1052A>C (p.Asn351Thr) c.*324A>C (n.*324A>C) c.1058A>C (p.Asn353Thr) n.422A>C n.3655A>C c.562A>C c.1037A>C (p.Asn346Thr) c.*726A>C (n.*726A>C) c.1245A>C (n.1245A>C) c.1115A>C (p.Asn372Thr) c.923-2421A>C (n.923-2421A>C) c.1121A>C (p.Asn374Thr) c.1163A>C (p.Asn388Thr) c.704A>C (p.Asn235Thr) | |
| 5 | g.162149309A>G | CA362182741 | GABRG2 | c.1125A>G c.1244A>G (p.Asn415Ser) c.1207A>G n.378A>G c.839A>G (p.Asn280Ser) c.1124A>G (p.Asn375Ser) c.1001A>G c.515A>G (p.Asn172Ser) c.1052A>G (p.Asn351Ser) c.*324A>G (n.*324A>G) c.1058A>G (p.Asn353Ser) n.422A>G n.3655A>G c.562A>G c.1037A>G (p.Asn346Ser) c.*726A>G (n.*726A>G) c.1245A>G (n.1245A>G) c.1115A>G (p.Asn372Ser) c.923-2421A>G (n.923-2421A>G) c.1121A>G (p.Asn374Ser) c.1163A>G (p.Asn388Ser) c.704A>G (p.Asn235Ser) | |
| 5 | g.162149309A>T | CA362182740 | GABRG2 | c.1125A>T c.1244A>T (p.Asn415Ile) c.1207A>T n.378A>T c.839A>T (p.Asn280Ile) c.1124A>T (p.Asn375Ile) c.1001A>T c.515A>T (p.Asn172Ile) c.1052A>T (p.Asn351Ile) c.*324A>T (n.*324A>T) c.1058A>T (p.Asn353Ile) n.422A>T n.3655A>T c.562A>T c.1037A>T (p.Asn346Ile) c.*726A>T (n.*726A>T) c.1245A>T (n.1245A>T) c.1115A>T (p.Asn372Ile) c.923-2421A>T (n.923-2421A>T) c.1121A>T (p.Asn374Ile) c.1163A>T (p.Asn388Ile) c.704A>T (p.Asn235Ile) | |
| 5 | g.162149310C>A | CA362182742 | GABRG2 | c.1126C>A c.1245C>A (p.Asn415Lys) c.1208C>A n.379C>A c.840C>A (p.Asn280Lys) c.1125C>A (p.Asn375Lys) c.1002C>A c.516C>A (p.Asn172Lys) c.1053C>A (p.Asn351Lys) c.*325C>A (n.*325C>A) c.1059C>A (p.Asn353Lys) n.423C>A n.3656C>A c.563C>A c.1038C>A (p.Asn346Lys) c.*727C>A (n.*727C>A) c.1246C>A (n.1246C>A) c.1116C>A (p.Asn372Lys) c.923-2420C>A (n.923-2420C>A) c.1122C>A (p.Asn374Lys) c.1164C>A (p.Asn388Lys) c.705C>A (p.Asn235Lys) | dbSNP |
| 5 | g.162149310C= | CA1596380296 | GABRG2 | c.1126C= c.1245C= (p.Asn415=) c.1208C= n.379C= c.840C= (p.Asn280=) c.1125C= (p.Asn375=) c.1002C= c.516C= (p.Asn172=) c.1053C= (p.Asn351=) c.*325C= (n.*325C=) c.1059C= (p.Asn353=) n.423C= n.3656C= c.563C= c.1038C= (p.Asn346=) c.*727C= (n.*727C=) c.1246C= (n.1246C=) c.1116C= (p.Asn372=) c.923-2420C= (n.923-2420C=) c.1122C= (p.Asn374=) c.1164C= (p.Asn388=) c.705C= (p.Asn235=) | |
| 5 | g.162149310C>G | CA362182743 | GABRG2 | c.1126C>G c.1245C>G (p.Asn415Lys) c.1208C>G n.379C>G c.840C>G (p.Asn280Lys) c.1125C>G (p.Asn375Lys) c.1002C>G c.516C>G (p.Asn172Lys) c.1053C>G (p.Asn351Lys) c.*325C>G (n.*325C>G) c.1059C>G (p.Asn353Lys) n.423C>G n.3656C>G c.563C>G c.1038C>G (p.Asn346Lys) c.*727C>G (n.*727C>G) c.1246C>G (n.1246C>G) c.1116C>G (p.Asn372Lys) c.923-2420C>G (n.923-2420C>G) c.1122C>G (p.Asn374Lys) c.1164C>G (p.Asn388Lys) c.705C>G (p.Asn235Lys) | |
| 5 | g.162149310C>T | CA447610353 | GABRG2 | c.1126C>T c.1245C>T (p.Asn415=) c.1208C>T n.379C>T c.840C>T (p.Asn280=) c.1125C>T (p.Asn375=) c.1002C>T c.516C>T (p.Asn172=) c.1053C>T (p.Asn351=) c.*325C>T (n.*325C>T) c.1059C>T (p.Asn353=) n.423C>T n.3656C>T c.563C>T c.1038C>T (p.Asn346=) c.*727C>T (n.*727C>T) c.1246C>T (n.1246C>T) c.1116C>T (p.Asn372=) c.923-2420C>T (n.923-2420C>T) c.1122C>T (p.Asn374=) c.1164C>T (p.Asn388=) c.705C>T (p.Asn235=) | gnomAD v4 COSMIC |
| 5 | g.162149311C>A | CA362182744 | GABRG2 | c.1127C>A c.1246C>A (p.Pro416Thr) c.1209C>A n.380C>A c.841C>A (p.Pro281Thr) c.1126C>A (p.Pro376Thr) c.1003C>A c.517C>A (p.Pro173Thr) c.1054C>A (p.Pro352Thr) c.*326C>A (n.*326C>A) c.1060C>A (p.Pro354Thr) n.424C>A n.3657C>A c.564C>A c.1039C>A (p.Pro347Thr) c.*728C>A (n.*728C>A) c.1247C>A (n.1247C>A) c.1117C>A (p.Pro373Thr) c.923-2419C>A (n.923-2419C>A) c.1123C>A (p.Pro375Thr) c.1165C>A (p.Pro389Thr) c.706C>A (p.Pro236Thr) | gnomAD v4 |
| 5 | g.162149311C>G | CA362182745 | GABRG2 | c.1127C>G c.1246C>G (p.Pro416Ala) c.1209C>G n.380C>G c.841C>G (p.Pro281Ala) c.1126C>G (p.Pro376Ala) c.1003C>G c.517C>G (p.Pro173Ala) c.1054C>G (p.Pro352Ala) c.*326C>G (n.*326C>G) c.1060C>G (p.Pro354Ala) n.424C>G n.3657C>G c.564C>G c.1039C>G (p.Pro347Ala) c.*728C>G (n.*728C>G) c.1247C>G (n.1247C>G) c.1117C>G (p.Pro373Ala) c.923-2419C>G (n.923-2419C>G) c.1123C>G (p.Pro375Ala) c.1165C>G (p.Pro389Ala) c.706C>G (p.Pro236Ala) | |
| 5 | g.162149311C>T | CA362182746 | GABRG2 | c.1127C>T c.1246C>T (p.Pro416Ser) c.1209C>T n.380C>T c.841C>T (p.Pro281Ser) c.1126C>T (p.Pro376Ser) c.1003C>T c.517C>T (p.Pro173Ser) c.1054C>T (p.Pro352Ser) c.*326C>T (n.*326C>T) c.1060C>T (p.Pro354Ser) n.424C>T n.3657C>T c.564C>T c.1039C>T (p.Pro347Ser) c.*728C>T (n.*728C>T) c.1247C>T (n.1247C>T) c.1117C>T (p.Pro373Ser) c.923-2419C>T (n.923-2419C>T) c.1123C>T (p.Pro375Ser) c.1165C>T (p.Pro389Ser) c.706C>T (p.Pro236Ser) | |
| 5 | g.162149312C>A | CA362182747 | GABRG2 | c.1128C>A c.1247C>A (p.Pro416His) c.1210C>A n.381C>A c.842C>A (p.Pro281His) c.1127C>A (p.Pro376His) c.1004C>A c.518C>A (p.Pro173His) c.1055C>A (p.Pro352His) c.*327C>A (n.*327C>A) c.1061C>A (p.Pro354His) n.425C>A n.3658C>A c.565C>A c.1040C>A (p.Pro347His) c.*729C>A (n.*729C>A) c.1248C>A (n.1248C>A) c.1118C>A (p.Pro373His) c.923-2418C>A (n.923-2418C>A) c.1124C>A (p.Pro375His) c.1166C>A (p.Pro389His) c.707C>A (p.Pro236His) | COSMIC |