NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=)
|
rs2229944
|
0.11079
|
NM_001371727.1(GABRB2):c.542-11T>C
|
rs10052441
|
0.08647
|
NM_001371727.1(GABRB2):c.438C>G (p.Gly146=)
|
rs2964779
|
0.00576
|
NM_001371727.1(GABRB2):c.984C>T (p.Tyr328=)
|
rs140538607
|
0.00124
|
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=)
|
rs145570974
|
0.00103
|
NM_001371727.1(GABRB2):c.423C>G (p.Arg141=)
|
rs147449850
|
0.00098
|
NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=)
|
rs146425610
|
0.00046
|
NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn)
|
rs61735410
|
0.00038
|
NM_001371727.1(GABRB2):c.609G>A (p.Thr203=)
|
rs138163747
|
0.00026
|
NM_001371727.1(GABRB2):c.573C>T (p.Tyr191=)
|
rs199576643
|
0.00020
|
NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=)
|
rs142424271
|
0.00018
|
NM_001371727.1(GABRB2):c.77+18T>C
|
rs200524787
|
0.00017
|
NM_001371727.1(GABRB2):c.1060C>T (p.Arg354Cys)
|
rs41298406
|
0.00014
|
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)
|
rs140795978
|
0.00014
|
NM_001371727.1(GABRB2):c.1479A>T (p.Ile493=)
|
rs750111998
|
0.00011
|
NM_001371727.1(GABRB2):c.462C>T (p.Ile154=)
|
rs148320584
|
0.00011
|
NM_001371727.1(GABRB2):c.1191G>A (p.Thr397=)
|
rs373911261
|
0.00008
|
NM_001371727.1(GABRB2):c.1373G>A (p.Arg458Gln)
|
rs80241240
|
0.00008
|
NM_001371727.1(GABRB2):c.237+12C>T
|
rs371694224
|
0.00007
|
NM_001371727.1(GABRB2):c.372C>T (p.Asn124=)
|
rs138299514
|
0.00007
|
NM_001371727.1(GABRB2):c.594A>G (p.Ala198=)
|
rs761307384
|
0.00007
|
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His)
|
rs371217448
|
0.00006
|
NM_001371727.1(GABRB2):c.1103A>G (p.Asn368Ser)
|
rs768489439
|
0.00006
|
NM_001371727.1(GABRB2):c.1190C>T (p.Thr397Met)
|
rs375083192
|
0.00006
|
NM_001371727.1(GABRB2):c.1334G>A (p.Gly445Glu)
|
rs781071477
|
0.00006
|
NM_001371727.1(GABRB2):c.285G>A (p.Arg95=)
|
rs144053366
|
0.00006
|
NM_001371727.1(GABRB2):c.542-8T>C
|
rs546965842
|
0.00006
|
NM_001371727.1(GABRB2):c.624A>G (p.Pro208=)
|
rs1174338619
|
0.00006
|
NM_001371727.1(GABRB2):c.1014A>G (p.Gln338=)
|
rs747854210
|
0.00005
|
NM_001371727.1(GABRB2):c.1063C>T (p.Leu355=)
|
rs764159075
|
0.00005
|
NM_001371727.1(GABRB2):c.1192-12C>A
|
rs375758935
|
0.00005
|
NM_001371727.1(GABRB2):c.1192-18G>T
|
rs376744140
|
0.00005
|
NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro)
|
rs200591388
|
0.00005
|
NM_001371727.1(GABRB2):c.1358G>A (p.Arg453Gln)
|
rs371728438
|
0.00005
|
NM_001371727.1(GABRB2):c.1009C>T (p.Arg337Cys)
|
rs777778428
|
0.00004
|
NM_001371727.1(GABRB2):c.1174G>A (p.Asp392Asn)
|
rs150956270
|
0.00004
|
NM_001371727.1(GABRB2):c.1377T>C (p.His459=)
|
rs201342925
|
0.00004
|
NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=)
|
rs536960677
|
0.00004
|
NM_001371727.1(GABRB2):c.1530T>C (p.Tyr510=)
|
rs200872771
|
0.00004
|
NM_001371727.1(GABRB2):c.357T>C (p.Asp119=)
|
rs756503577
|
0.00004
|
NM_001371727.1(GABRB2):c.78-19T>C
|
rs202028432
|
0.00004
|
NM_001371727.1(GABRB2):c.1118G>A (p.Arg373Gln)
|
rs202183786
|
0.00003
|
NM_001371727.1(GABRB2):c.1143C>T (p.Asn381=)
|
rs908738518
|
0.00003
|
NM_001371727.1(GABRB2):c.1153A>T (p.Thr385Ser)
|
rs201397195
|
0.00003
|
NM_001371727.1(GABRB2):c.1410C>T (p.Arg470=)
|
rs373821165
|
0.00003
|
NM_001371727.1(GABRB2):c.393C>T (p.His131=)
|
rs755211861
|
0.00003
|
NM_001371727.1(GABRB2):c.441C>T (p.Thr147=)
|
rs370578958
|
0.00003
|
NM_001371727.1(GABRB2):c.789C>A (p.Ser263=)
|
rs755694724
|
0.00003
|
NM_001371727.1(GABRB2):c.85G>T (p.Asp29Tyr)
|
rs775606746
|
0.00003
|
NM_001371727.1(GABRB2):c.998G>C (p.Arg333Thr)
|
rs776801560
|
0.00003
|
NM_001371727.1(GABRB2):c.1160G>A (p.Arg387Gln)
|
rs369113102
|
0.00002
|
NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg)
|
rs1435021718
|
0.00002
|
NM_001371727.1(GABRB2):c.1411G>A (p.Ala471Thr)
|
rs140153076
|
0.00002
|
NM_001371727.1(GABRB2):c.1434C>T (p.Ile478=)
|
rs754964208
|
0.00002
|
NM_001371727.1(GABRB2):c.1510A>G (p.Ile504Val)
|
rs753338867
|
0.00002
|
NM_001371727.1(GABRB2):c.1518T>C (p.Tyr506=)
|
rs753233146
|
0.00002
|
NM_001371727.1(GABRB2):c.172C>G (p.Pro58Ala)
|
rs769551029
|
0.00002
|
NM_001371727.1(GABRB2):c.238-18T>C
|
rs1485793918
|
0.00002
|
NM_001371727.1(GABRB2):c.459-15C>T
|
rs759328020
|
0.00002
|
NM_001371727.1(GABRB2):c.60C>T (p.Ala20=)
|
rs763231952
|
0.00002
|
NM_001371727.1(GABRB2):c.720A>G (p.Arg240=)
|
rs756982726
|
0.00002
|
NM_001371727.1(GABRB2):c.1010G>A (p.Arg337His)
|
rs769682551
|
0.00001
|
NM_001371727.1(GABRB2):c.1017G>A (p.Lys339=)
|
rs1289875232
|
0.00001
|
NM_001371727.1(GABRB2):c.1077+6T>C
|
rs993294374
|
0.00001
|
NM_001371727.1(GABRB2):c.1078-9G>A
|
rs538734649
|
0.00001
|
NM_001371727.1(GABRB2):c.1093A>G (p.Ile365Val)
|
rs776347142
|
0.00001
|
NM_001371727.1(GABRB2):c.10G>A (p.Val4Met)
|
rs368787045
|
0.00001
|
NM_001371727.1(GABRB2):c.1117C>T (p.Arg373Ter)
|
rs745319567
|
0.00001
|
NM_001371727.1(GABRB2):c.1144C>T (p.Leu382Phe)
|
rs756481987
|
0.00001
|
NM_001371727.1(GABRB2):c.1154C>G (p.Thr385Ser)
|
rs373905764
|
0.00001
|
NM_001371727.1(GABRB2):c.1169A>G (p.Asn390Ser)
|
rs201129022
|
0.00001
|
NM_001371727.1(GABRB2):c.1173C>T (p.Tyr391=)
|
rs753777522
|
0.00001
|
NM_001371727.1(GABRB2):c.1192-6T>G
|
rs759226981
|
0.00001
|
NM_001371727.1(GABRB2):c.1200C>G (p.Pro400=)
|
rs770453629
|
0.00001
|
NM_001371727.1(GABRB2):c.1203T>C (p.His401=)
|
rs762487283
|
0.00001
|
NM_001371727.1(GABRB2):c.1204G>A (p.Glu402Lys)
|
rs78789939
|
0.00001
|
NM_001371727.1(GABRB2):c.1280C>T (p.Pro427Leu)
|
rs762381690
|
0.00001
|
NM_001371727.1(GABRB2):c.1320G>A (p.Gln440=)
|
rs1184212049
|
0.00001
|
NM_001371727.1(GABRB2):c.1324C>T (p.Arg442Trp)
|
rs1407862838
|
0.00001
|
NM_001371727.1(GABRB2):c.1325G>A (p.Arg442Gln)
|
rs779091017
|
0.00001
|
NM_001371727.1(GABRB2):c.1378G>A (p.Val460Met)
|
rs982764804
|
0.00001
|
NM_001371727.1(GABRB2):c.1381G>T (p.Ala461Ser)
|
rs1580953898
|
0.00001
|
NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val)
|
rs952831120
|
0.00001
|
NM_001371727.1(GABRB2):c.1397G>A (p.Arg466His)
|
rs772293871
|
0.00001
|
NM_001371727.1(GABRB2):c.1401G>A (p.Leu467=)
|
rs746150630
|
0.00001
|
NM_001371727.1(GABRB2):c.1419A>G (p.Gln473=)
|
rs749301985
|
0.00001
|
NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile)
|
rs781122974
|
0.00001
|
NM_001371727.1(GABRB2):c.1509C>T (p.Asn503=)
|
rs756795443
|
0.00001
|
NM_001371727.1(GABRB2):c.1513G>A (p.Val505Ile)
|
rs1218503196
|
0.00001
|
NM_001371727.1(GABRB2):c.170-4G>T
|
rs545803508
|
0.00001
|
NM_001371727.1(GABRB2):c.180G>T (p.Val60=)
|
rs1208230748
|
0.00001
|
NM_001371727.1(GABRB2):c.237+18T>C
|
rs749857323
|
0.00001
|
NM_001371727.1(GABRB2):c.282G>A (p.Lys94=)
|
rs771570156
|
0.00001
|
NM_001371727.1(GABRB2):c.288G>A (p.Leu96=)
|
rs1345898045
|
0.00001
|
NM_001371727.1(GABRB2):c.458+9T>C
|
rs1414682600
|
0.00001
|
NM_001371727.1(GABRB2):c.45C>T (p.Phe15=)
|
rs759095506
|
0.00001
|
NM_001371727.1(GABRB2):c.46C>G (p.Pro16Ala)
|
rs775021096
|
0.00001
|
NM_001371727.1(GABRB2):c.513A>G (p.Glu171=)
|
rs370168508
|
0.00001
|
NM_001371727.1(GABRB2):c.541+7C>G
|
rs373480281
|
0.00001
|
NM_001371727.1(GABRB2):c.542-16A>G
|
rs1554094288
|
0.00001
|
NM_001371727.1(GABRB2):c.542-19T>C
|
rs913562341
|
0.00001
|
NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys)
|
rs193920932
|
0.00001
|
NM_001371727.1(GABRB2):c.582C>A (p.Gly194=)
|
rs750096691
|
0.00001
|
NM_001371727.1(GABRB2):c.608C>T (p.Thr203Met)
|
rs772591708
|
0.00001
|
NM_001371727.1(GABRB2):c.615T>C (p.Ile205=)
|
rs1400169299
|
0.00001
|
NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg)
|
rs1273884286
|
0.00001
|
NM_001371727.1(GABRB2):c.679+7A>T
|
rs1285127035
|
0.00001
|
NM_001371727.1(GABRB2):c.69T>C (p.Cys23=)
|
rs1486789918
|
0.00001
|
NM_001371727.1(GABRB2):c.744A>G (p.Gln248=)
|
rs935553427
|
0.00001
|
NM_001371727.1(GABRB2):c.77+16G>T
|
rs778830538
|
0.00001
|
NM_001371727.1(GABRB2):c.804C>T (p.Tyr268=)
|
rs370057910
|
0.00001
|
NM_001371727.1(GABRB2):c.813A>T (p.Ser271=)
|
rs367813708
|
0.00001
|
NM_001371727.1(GABRB2):c.832+3A>G
|
rs77398862
|
0.00001
|
NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val)
|
rs1021186046
|
0.00001
|
NM_001371727.1(GABRB2):c.88C>T (p.Pro30Ser)
|
rs1760987338
|
0.00001
|
NM_001371727.1(GABRB2):c.89C>T (p.Pro30Leu)
|
rs749288718
|
0.00001
|
NM_001371727.1(GABRB2):c.936C>T (p.Cys312=)
|
rs181644032
|
0.00001
|
NM_001371727.1(GABRB2):c.996G>A (p.Gly332=)
|
rs762087070
|
0.00001
|
NM_001371727.1(GABRB2):c.9A>T (p.Arg3Ser)
|
rs967225542
|
0.00001
|
NC_000005.9:g.(?_160721068)_(160721455_?)dup
|
|
|
NC_000005.9:g.(?_160721068)_(160763796_?)dup
|
|
|
NC_000005.9:g.(?_160721088)_(161324428_?)dup
|
|
|
NM_001371727.1(GABRB2):c.1008A>T (p.Gln336His)
|
|
|
NM_001371727.1(GABRB2):c.102G>A (p.Ser34=)
|
rs2113490210
|
|
NM_001371727.1(GABRB2):c.1039A>G (p.Ser347Gly)
|
rs780941452
|
|
NM_001371727.1(GABRB2):c.103C>T (p.Leu35=)
|
rs1581075337
|
|
NM_001371727.1(GABRB2):c.1040G>A (p.Ser347Asn)
|
rs1753820203
|
|
NM_001371727.1(GABRB2):c.1056G>A (p.Lys352=)
|
rs2113397440
|
|
NM_001371727.1(GABRB2):c.1057A>T (p.Met353Leu)
|
rs1014388930
|
|
NM_001371727.1(GABRB2):c.1060C>A (p.Arg354Ser)
|
rs41298406
|
|
NM_001371727.1(GABRB2):c.1061G>T (p.Arg354Leu)
|
rs371217448
|
|
NM_001371727.1(GABRB2):c.1065G>A (p.Leu355=)
|
|
|
NM_001371727.1(GABRB2):c.1066G>A (p.Asp356Asn)
|
rs1753818114
|
|
NM_001371727.1(GABRB2):c.1077+12G>A
|
|
|
NM_001371727.1(GABRB2):c.1077+14G>A
|
|
|
NM_001371727.1(GABRB2):c.1080T>A (p.Ile360=)
|
|
|
NM_001371727.1(GABRB2):c.1088A>G (p.Lys363Arg)
|
rs1561608651
|
|
NM_001371727.1(GABRB2):c.1094T>G (p.Ile365Ser)
|
rs1758366511
|
|
NM_001371727.1(GABRB2):c.1108A>G (p.Thr370Ala)
|
rs143130991
|
|
NM_001371727.1(GABRB2):c.1117C>A (p.Arg373=)
|
rs745319567
|
|
NM_001371727.1(GABRB2):c.1118G>T (p.Arg373Leu)
|
|
|
NM_001371727.1(GABRB2):c.1121C>T (p.Ser374Phe)
|
rs775375467
|
|
NM_001371727.1(GABRB2):c.1125G>T (p.Leu375Phe)
|
|
|
NM_001371727.1(GABRB2):c.1146C>T (p.Leu382=)
|
rs1266441926
|
|
NM_001371727.1(GABRB2):c.1153A>G (p.Thr385Ala)
|
rs201397195
|
|
NM_001371727.1(GABRB2):c.1155T>C (p.Thr385=)
|
rs1273490114
|
|
NM_001371727.1(GABRB2):c.1168A>C (p.Asn390His)
|
rs1026621473
|
|
NM_001371727.1(GABRB2):c.1171T>C (p.Tyr391His)
|
rs1580981280
|
|
NM_001371727.1(GABRB2):c.1174G>C (p.Asp392His)
|
rs150956270
|
|
NM_001371727.1(GABRB2):c.1178T>C (p.Phe393Ser)
|
rs2113389282
|
|
NM_001371727.1(GABRB2):c.117G>A (p.Thr39=)
|
rs866058026
|
|
NM_001371727.1(GABRB2):c.117G>C (p.Thr39=)
|
|
|
NM_001371727.1(GABRB2):c.1191+12A>T
|
|
|
NM_001371727.1(GABRB2):c.1191+13G>A
|
|
|
NM_001371727.1(GABRB2):c.1192-3C>T
|
|
|
NM_001371727.1(GABRB2):c.1192-7C>G
|
|
|
NM_001371727.1(GABRB2):c.1192-7C>T
|
rs2113334075
|
|
NM_001371727.1(GABRB2):c.1197C>T (p.Asp399=)
|
|
|
NM_001371727.1(GABRB2):c.1198C>A (p.Pro400Thr)
|
rs1757325283
|
|
NM_001371727.1(GABRB2):c.1210A>G (p.Ile404Val)
|
|
|
NM_001371727.1(GABRB2):c.1217T>A (p.Leu406Gln)
|
|
|
NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)
|
|
|
NM_001371727.1(GABRB2):c.1231A>G (p.Ile411Val)
|
rs2113333920
|
|
NM_001371727.1(GABRB2):c.1243A>G (p.Met415Val)
|
rs1338788033
|
|
NM_001371727.1(GABRB2):c.1249A>G (p.Thr417Ala)
|
|
|
NM_001371727.1(GABRB2):c.1252T>C (p.Ser418Pro)
|
|
|
NM_001371727.1(GABRB2):c.1256A>T (p.Glu419Val)
|
rs1757322902
|
|
NM_001371727.1(GABRB2):c.1257G>A (p.Glu419=)
|
|
|
NM_001371727.1(GABRB2):c.1260T>G (p.Ala420=)
|
rs778879790
|
|
NM_001371727.1(GABRB2):c.1274G>C (p.Gly425Ala)
|
rs2113333823
|
|
NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn)
|
rs1580954153
|
|
NM_001371727.1(GABRB2):c.1290A>C (p.Thr430=)
|
|
|
NM_001371727.1(GABRB2):c.1293G>A (p.Met431Ile)
|
|
|
NM_001371727.1(GABRB2):c.1296A>G (p.Leu432=)
|
rs2113333752
|
|
NM_001371727.1(GABRB2):c.1301A>T (p.Tyr434Phe)
|
|
|
NM_001371727.1(GABRB2):c.1303G>A (p.Asp435Asn)
|
|
|
NM_001371727.1(GABRB2):c.1310C>G (p.Ser437Cys)
|
rs772398405
|
|
NM_001371727.1(GABRB2):c.1310C>T (p.Ser437Phe)
|
rs772398405
|
|
NM_001371727.1(GABRB2):c.1317C>T (p.Ile439=)
|
|
|
NM_001371727.1(GABRB2):c.1338G>A (p.Leu446=)
|
rs1757319355
|
|
NM_001371727.1(GABRB2):c.1346A>G (p.His449Arg)
|
|
|
NM_001371727.1(GABRB2):c.1349G>C (p.Ser450Thr)
|
rs61735410
|
|
NM_001371727.1(GABRB2):c.1357C>A (p.Arg453=)
|
rs1461566727
|
|
NM_001371727.1(GABRB2):c.1364C>T (p.Ala455Val)
|
rs2113333534
|
|
NM_001371727.1(GABRB2):c.1374A>G (p.Arg458=)
|
rs764850270
|
|
NM_001371727.1(GABRB2):c.1380G>A (p.Val460=)
|
|
|
NM_001371727.1(GABRB2):c.1386A>T (p.Gln462His)
|
rs2113333435
|
|
NM_001371727.1(GABRB2):c.1396C>T (p.Arg466Cys)
|
rs2113333414
|
|
NM_001371727.1(GABRB2):c.1398C>T (p.Arg466=)
|
rs2113333407
|
|
NM_001371727.1(GABRB2):c.1399C>T (p.Leu467=)
|
rs2113333399
|
|
NM_001371727.1(GABRB2):c.13C>A (p.Arg5=)
|
|
|
NM_001371727.1(GABRB2):c.1411G>T (p.Ala471Ser)
|
|
|
NM_001371727.1(GABRB2):c.1413C>T (p.Ala471=)
|
rs1757314735
|
|
NM_001371727.1(GABRB2):c.142G>C (p.Asp48His)
|
|
|
NM_001371727.1(GABRB2):c.146T>G (p.Ile49Ser)
|
rs2113490140
|
|
NM_001371727.1(GABRB2):c.1475G>A (p.Arg492His)
|
rs1757313373
|
|
NM_001371727.1(GABRB2):c.1501T>A (p.Phe501Ile)
|
rs2113333244
|
|
NM_001371727.1(GABRB2):c.1512C>T (p.Ile504=)
|
|
|
NM_001371727.1(GABRB2):c.151C>A (p.Leu51Met)
|
rs1760985866
|
|
NM_001371727.1(GABRB2):c.151C>G (p.Leu51Val)
|
rs1760985866
|
|
NM_001371727.1(GABRB2):c.1529A>T (p.Tyr510Phe)
|
|
|
NM_001371727.1(GABRB2):c.1531G>A (p.Val511Met)
|
rs77133486
|
|
NM_001371727.1(GABRB2):c.155G>C (p.Arg52Thr)
|
|
|
NM_001371727.1(GABRB2):c.169+5T>C
|
|
|
NM_001371727.1(GABRB2):c.170-14G>A
|
|
|
NM_001371727.1(GABRB2):c.170-14G>T
|
|
|
NM_001371727.1(GABRB2):c.170-3C>T
|
|
|
NM_001371727.1(GABRB2):c.170-9G>T
|
rs1581074359
|
|
NM_001371727.1(GABRB2):c.172C>T (p.Pro58Ser)
|
rs769551029
|
|
NM_001371727.1(GABRB2):c.177C>G (p.Pro59=)
|
rs996258829
|
|
NM_001371727.1(GABRB2):c.181G>T (p.Ala61Ser)
|
rs747969321
|
|
NM_001371727.1(GABRB2):c.190A>G (p.Met64Val)
|
rs2113486772
|
|
NM_001371727.1(GABRB2):c.195C>T (p.Asn65=)
|
rs1760943725
|
|
NM_001371727.1(GABRB2):c.196A>G (p.Ile66Val)
|
rs2113486744
|
|
NM_001371727.1(GABRB2):c.197T>C (p.Ile66Thr)
|
rs1760943617
|
|
NM_001371727.1(GABRB2):c.201C>T (p.Asp67=)
|
|
|
NM_001371727.1(GABRB2):c.204T>C (p.Ile68=)
|
rs2113486725
|
|
NM_001371727.1(GABRB2):c.207C>T (p.Ala69=)
|
|
|
NM_001371727.1(GABRB2):c.213C>A (p.Ile71=)
|
rs1351188868
|
|
NM_001371727.1(GABRB2):c.213C>T (p.Ile71=)
|
|
|
NM_001371727.1(GABRB2):c.224C>T (p.Ser75Phe)
|
|
|
NM_001371727.1(GABRB2):c.226G>C (p.Glu76Gln)
|
|
|
NM_001371727.1(GABRB2):c.228A>T (p.Glu76Asp)
|
|
|
NM_001371727.1(GABRB2):c.235A>T (p.Met79Leu)
|
|
|
NM_001371727.1(GABRB2):c.237+13A>G
|
|
|
NM_001371727.1(GABRB2):c.237+7A>G
|
|
|
NM_001371727.1(GABRB2):c.237G>A (p.Met79Ile)
|
|
|
NM_001371727.1(GABRB2):c.238-14T>C
|
|
|
NM_001371727.1(GABRB2):c.238-14del
|
rs539366743
|
|
NM_001371727.1(GABRB2):c.238-14dup
|
rs539366743
|
|
NM_001371727.1(GABRB2):c.238-19T>G
|
|
|
NM_001371727.1(GABRB2):c.238-9C>T
|
rs76657179
|
|
NM_001371727.1(GABRB2):c.23del (p.Gly8fs)
|
rs1581075690
|
|
NM_001371727.1(GABRB2):c.245C>A (p.Thr82Asn)
|
rs1561658011
|
|
NM_001371727.1(GABRB2):c.253A>G (p.Met85Val)
|
|
|
NM_001371727.1(GABRB2):c.275G>A (p.Arg92Lys)
|
rs1758064008
|
|
NM_001371727.1(GABRB2):c.301A>G (p.Ile101Val)
|
rs2113264009
|
|
NM_001371727.1(GABRB2):c.304C>T (p.Pro102Ser)
|
|
|
NM_001371727.1(GABRB2):c.316A>C (p.Thr106Pro)
|
|
|
NM_001371727.1(GABRB2):c.366C>T (p.Phe122=)
|
|
|
NM_001371727.1(GABRB2):c.371A>G (p.Asn124Ser)
|
|
|
NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)
|
|
|
NM_001371727.1(GABRB2):c.377A>G (p.Lys126Arg)
|
|
|
NM_001371727.1(GABRB2):c.378G>A (p.Lys126=)
|
|
|
NM_001371727.1(GABRB2):c.381G>A (p.Lys127=)
|
|
|
NM_001371727.1(GABRB2):c.394G>A (p.Gly132Arg)
|
rs868863837
|
|
NM_001371727.1(GABRB2):c.399G>A (p.Val133=)
|
rs974021905
|
|
NM_001371727.1(GABRB2):c.417G>A (p.Met139Ile)
|
rs78354289
|
|
NM_001371727.1(GABRB2):c.421C>T (p.Arg141Cys)
|
|
|
NM_001371727.1(GABRB2):c.422G>A (p.Arg141His)
|
rs1554102156
|
|
NM_001371727.1(GABRB2):c.430C>A (p.Pro144Thr)
|
|
|
NM_001371727.1(GABRB2):c.435T>C (p.Asp145=)
|
rs776727409
|
|
NM_001371727.1(GABRB2):c.441C>A (p.Thr147=)
|
|
|
NM_001371727.1(GABRB2):c.442G>A (p.Val148Ile)
|
rs1581004188
|
|
NM_001371727.1(GABRB2):c.444C>T (p.Val148=)
|
rs771899561
|
|
NM_001371727.1(GABRB2):c.458+20A>G
|
|
|
NM_001371727.1(GABRB2):c.458+3C>T
|
rs2113263600
|
|
NM_001371727.1(GABRB2):c.458+4T>A
|
|
|
NM_001371727.1(GABRB2):c.458+4T>G
|
rs2113263590
|
|
NM_001371727.1(GABRB2):c.458+5G>A
|
rs1758060204
|
|
NM_001371727.1(GABRB2):c.459-13A>G
|
|
|
NM_001371727.1(GABRB2):c.459A>G (p.Arg153=)
|
rs2113114646
|
|
NM_001371727.1(GABRB2):c.45C>G (p.Phe15Leu)
|
|
|
NM_001371727.1(GABRB2):c.468C>G (p.Thr156=)
|
|
|
NM_001371727.1(GABRB2):c.482T>C (p.Met161Thr)
|
rs1057521979
|
|
NM_001371727.1(GABRB2):c.48C>T (p.Pro16=)
|
rs1265831842
|
|
NM_001371727.1(GABRB2):c.490C>T (p.Leu164=)
|
|
|
NM_001371727.1(GABRB2):c.503del (p.Pro168fs)
|
|
|
NM_001371727.1(GABRB2):c.51A>C (p.Leu17Phe)
|
|
|
NM_001371727.1(GABRB2):c.51AAT[1] (p.Ile19del)
|
rs761010140
|
|
NM_001371727.1(GABRB2):c.522C>T (p.Cys174=)
|
|
|
NM_001371727.1(GABRB2):c.535G>A (p.Glu179Lys)
|
|
|
NM_001371727.1(GABRB2):c.541+7C>T
|
|
|
NM_001371727.1(GABRB2):c.541+8G>A
|
|
|
NM_001371727.1(GABRB2):c.542-32GT[6]
|
rs141330383
|
|
NM_001371727.1(GABRB2):c.542-32GT[7]
|
rs141330383
|
|
NM_001371727.1(GABRB2):c.542-32GT[9]
|
rs141330383
|
|
NM_001371727.1(GABRB2):c.542-3C>A
|
|
|
NM_001371727.1(GABRB2):c.553A>G (p.Thr185Ala)
|
|
|
NM_001371727.1(GABRB2):c.566A>T (p.Glu189Val)
|
rs1754004974
|
|
NM_001371727.1(GABRB2):c.56T>C (p.Ile19Thr)
|
rs2113490797
|
|
NM_001371727.1(GABRB2):c.578G>A (p.Arg193His)
|
rs373324958
|
|
NM_001371727.1(GABRB2):c.582C>T (p.Gly194=)
|
rs750096691
|
|
NM_001371727.1(GABRB2):c.583G>A (p.Asp195Asn)
|
|
|
NM_001371727.1(GABRB2):c.591T>A (p.Asn197Lys)
|
rs1426438345
|
|
NM_001371727.1(GABRB2):c.61G>T (p.Ala21Ser)
|
|
|
NM_001371727.1(GABRB2):c.624A>T (p.Pro208=)
|
|
|
NM_001371727.1(GABRB2):c.625C>G (p.Gln209Glu)
|
rs1554094279
|
|
NM_001371727.1(GABRB2):c.627_629del (p.Gln209_Phe210delinsHis)
|
rs2113408160
|
|
NM_001371727.1(GABRB2):c.632C>T (p.Ser211Phe)
|
rs2113408152
|
|
NM_001371727.1(GABRB2):c.639A>G (p.Val213=)
|
|
|
NM_001371727.1(GABRB2):c.658A>G (p.Lys220Glu)
|
rs1754001197
|
|
NM_001371727.1(GABRB2):c.663G>C (p.Lys221Asn)
|
rs777977171
|
|
NM_001371727.1(GABRB2):c.672T>A (p.Phe224Leu)
|
rs2113408096
|
|
NM_001371727.1(GABRB2):c.679+7A>G
|
rs1285127035
|
|
NM_001371727.1(GABRB2):c.680-16A>C
|
rs1245747762
|
|
NM_001371727.1(GABRB2):c.680-20T>G
|
|
|
NM_001371727.1(GABRB2):c.680-2A>G
|
rs1561612125
|
|
NM_001371727.1(GABRB2):c.680-3T>C
|
rs763357499
|
|
NM_001371727.1(GABRB2):c.680-3T>G
|
rs763357499
|
|
NM_001371727.1(GABRB2):c.685T>C (p.Tyr229His)
|
rs2113405112
|
|
NM_001371727.1(GABRB2):c.689C>A (p.Pro230His)
|
rs1753947094
|
|
NM_001371727.1(GABRB2):c.691A>G (p.Arg231Gly)
|
|
|
NM_001371727.1(GABRB2):c.693G>T (p.Arg231Ser)
|
|
|
NM_001371727.1(GABRB2):c.700C>T (p.Leu234Phe)
|
|
|
NM_001371727.1(GABRB2):c.70G>A (p.Ala24Thr)
|
|
|
NM_001371727.1(GABRB2):c.72G>A (p.Ala24=)
|
rs776799573
|
|
NM_001371727.1(GABRB2):c.72G>T (p.Ala24=)
|
rs776799573
|
|
NM_001371727.1(GABRB2):c.734T>G (p.Phe245Cys)
|
rs1561612106
|
|
NM_001371727.1(GABRB2):c.73C>A (p.Gln25Lys)
|
|
|
NM_001371727.1(GABRB2):c.745A>G (p.Thr249Ala)
|
|
|
NM_001371727.1(GABRB2):c.755C>T (p.Pro252Leu)
|
rs2113405030
|
|
NM_001371727.1(GABRB2):c.758C>G (p.Ser253Cys)
|
rs1753945485
|
|
NM_001371727.1(GABRB2):c.75G>A (p.Gln25=)
|
rs2113490694
|
|
NM_001371727.1(GABRB2):c.766A>G (p.Ile256Val)
|
|
|
NM_001371727.1(GABRB2):c.77+17T>C
|
|
|
NM_001371727.1(GABRB2):c.77+6T>A
|
rs1760991511
|
|
NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)
|
|
|
NM_001371727.1(GABRB2):c.78-15C>A
|
|
|
NM_001371727.1(GABRB2):c.78-20A>G
|
|
|
NM_001371727.1(GABRB2):c.78-3T>C
|
|
|
NM_001371727.1(GABRB2):c.780C>A (p.Ser260=)
|
rs1160036447
|
|
NM_001371727.1(GABRB2):c.780C>G (p.Ser260=)
|
rs1160036447
|
|
NM_001371727.1(GABRB2):c.798T>G (p.Ile266Met)
|
|
|
NM_001371727.1(GABRB2):c.813A>C (p.Ser271=)
|
|
|
NM_001371727.1(GABRB2):c.815C>T (p.Ala272Val)
|
rs1753943911
|
|
NM_001371727.1(GABRB2):c.828A>G (p.Ala276=)
|
|
|
NM_001371727.1(GABRB2):c.830T>C (p.Leu277Ser)
|
rs1554094145
|
|
NM_001371727.1(GABRB2):c.832+16A>T
|
rs1252746615
|
|
NM_001371727.1(GABRB2):c.832+9T>C
|
rs1057522438
|
|
NM_001371727.1(GABRB2):c.833-11T>A
|
rs1753825686
|
|
NM_001371727.1(GABRB2):c.833-14C>G
|
rs2113397954
|
|
NM_001371727.1(GABRB2):c.833-14C>T
|
rs2113397954
|
|
NM_001371727.1(GABRB2):c.833-4del
|
rs777633076
|
|
NM_001371727.1(GABRB2):c.833-4dup
|
|
|
NM_001371727.1(GABRB2):c.838A>G (p.Thr280Ala)
|
rs2113397917
|
|
NM_001371727.1(GABRB2):c.841A>G (p.Thr281Ala)
|
|
|
NM_001371727.1(GABRB2):c.842C>G (p.Thr281Ser)
|
rs1753825061
|
|
NM_001371727.1(GABRB2):c.844G>T (p.Val282Phe)
|
rs1561610490
|
|
NM_001371727.1(GABRB2):c.850A>G (p.Thr284Ala)
|
rs1561610483
|
|
NM_001371727.1(GABRB2):c.854T>C (p.Met285Thr)
|
|
|
NM_001371727.1(GABRB2):c.857C>A (p.Thr286Asn)
|
rs1753824585
|
|
NM_001371727.1(GABRB2):c.85G>A (p.Asp29Asn)
|
rs775606746
|
|
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile)
|
rs1753824440
|
|
NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr)
|
rs1064795444
|
|
NM_001371727.1(GABRB2):c.876C>T (p.Leu292=)
|
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)
|
|
|
NM_001371727.1(GABRB2):c.878G>C (p.Arg293Pro)
|
|
|
NM_001371727.1(GABRB2):c.880dup (p.Glu294fs)
|
|
|
NM_001371727.1(GABRB2):c.881A>G (p.Glu294Gly)
|
rs1014039541
|
|
NM_001371727.1(GABRB2):c.895A>T (p.Ile299Phe)
|
rs1580984895
|
|
NM_001371727.1(GABRB2):c.901T>C (p.Tyr301His)
|
rs2113397784
|
|
NM_001371727.1(GABRB2):c.902A>G (p.Tyr301Cys)
|
rs1064794996
|
|
NM_001371727.1(GABRB2):c.902A>T (p.Tyr301Phe)
|
rs1064794996
|
|
NM_001371727.1(GABRB2):c.903T>C (p.Tyr301=)
|
|
|
NM_001371727.1(GABRB2):c.907A>G (p.Lys303Glu)
|
|
|
NM_001371727.1(GABRB2):c.908A>C (p.Lys303Thr)
|
rs1554093885
|
|
NM_001371727.1(GABRB2):c.909G>A (p.Lys303=)
|
rs886039375
|
|
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr)
|
rs1753822503
|
|
NM_001371727.1(GABRB2):c.933G>T (p.Gly311=)
|
rs1276507834
|
|
NM_001371727.1(GABRB2):c.940G>C (p.Val314Leu)
|
|
|
NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile)
|
rs1554093884
|
|
NM_001371727.1(GABRB2):c.95A>G (p.Asn32Ser)
|
|
|
NM_001371727.1(GABRB2):c.961C>T (p.Leu321=)
|
|
|
NM_001371727.1(GABRB2):c.981C>G (p.Asn327Lys)
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rs2113397640
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NM_001371727.1(GABRB2):c.987_992del (p.Phe330_Phe331del)
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rs1753821539
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NM_001371727.1(GABRB2):c.99del (p.Met33fs)
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