NM_000814.6(GABRB3):c.1080+15A>G
|
rs3751582
|
0.34839
|
NM_000814.6(GABRB3):c.240+13C>T
|
rs8179186
|
0.12842
|
NM_000814.6(GABRB3):c.783G>A (p.Ser261=)
|
rs76812964
|
0.02298
|
NM_000814.6(GABRB3):c.603C>T (p.Thr201=)
|
rs75965657
|
0.01810
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_000814.6(GABRB3):c.682+20A>G
|
rs75015217
|
0.00189
|
NM_000814.6(GABRB3):c.1158C>T (p.Gly386=)
|
rs147235962
|
0.00050
|
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=)
|
rs75914945
|
0.00044
|
NM_000814.6(GABRB3):c.835+8C>T
|
rs75812437
|
0.00031
|
NM_000814.6(GABRB3):c.80+11G>A
|
rs368259836
|
0.00027
|
NM_000814.6(GABRB3):c.231A>G (p.Glu77=)
|
rs151221282
|
0.00024
|
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg)
|
rs759931649
|
0.00022
|
NM_000814.6(GABRB3):c.1058G>A (p.Arg353His)
|
rs200057173
|
0.00018
|
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)
|
rs121913126
|
0.00016
|
NM_000814.6(GABRB3):c.585C>T (p.Gly195=)
|
rs781294125
|
0.00015
|
NM_000814.6(GABRB3):c.894C>T (p.Pro298=)
|
rs139378274
|
0.00015
|
NC_000015.10:g.26773866C>A
|
rs563217194
|
0.00012
|
NM_000814.6(GABRB3):c.675C>T (p.Phe225=)
|
rs201004195
|
0.00012
|
NM_000814.6(GABRB3):c.683-7C>A
|
rs759453899
|
0.00011
|
NM_000814.6(GABRB3):c.1081-10G>A
|
rs200137318
|
0.00010
|
NM_000814.6(GABRB3):c.1081-11C>T
|
rs370945916
|
0.00010
|
NM_000814.6(GABRB3):c.1113G>A (p.Ser371=)
|
rs139370891
|
0.00010
|
NM_000814.6(GABRB3):c.255C>T (p.Thr85=)
|
rs372195395
|
0.00010
|
NM_000814.6(GABRB3):c.80+13G>A
|
rs749065228
|
0.00009
|
NM_000814.6(GABRB3):c.1110A>G (p.Thr370=)
|
rs200523834
|
0.00006
|
NM_000814.6(GABRB3):c.357C>T (p.Pro119=)
|
rs370237352
|
0.00006
|
NM_000814.6(GABRB3):c.39C>T (p.Phe13=)
|
rs761422251
|
0.00006
|
NM_000814.6(GABRB3):c.627G>A (p.Pro209=)
|
rs146431931
|
0.00006
|
NM_000814.6(GABRB3):c.81-16C>T
|
rs769413892
|
0.00006
|
NM_000814.6(GABRB3):c.835+5G>A
|
rs374357218
|
0.00006
|
NM_000814.6(GABRB3):c.1338T>C (p.Asn446=)
|
rs370026053
|
0.00005
|
NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn)
|
rs375461837
|
0.00005
|
NM_000814.6(GABRB3):c.1057C>T (p.Arg353Cys)
|
rs775988401
|
0.00004
|
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His)
|
rs185383468
|
0.00004
|
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln)
|
rs76962261
|
0.00004
|
NM_000814.6(GABRB3):c.241-7465G>A
|
rs990895163
|
0.00004
|
NM_000814.6(GABRB3):c.471G>A (p.Thr157=)
|
rs143528720
|
0.00004
|
NM_000814.6(GABRB3):c.549C>T (p.Gly183=)
|
rs780056442
|
0.00004
|
NM_000814.6(GABRB3):c.650G>A (p.Arg217His)
|
rs121913125
|
0.00004
|
NM_000814.6(GABRB3):c.683-4A>G
|
rs776560822
|
0.00004
|
NM_000814.6(GABRB3):c.81-4C>G
|
rs1223039173
|
0.00004
|
NM_000814.6(GABRB3):c.87C>T (p.Asn29=)
|
rs772263479
|
0.00004
|
NM_000814.6(GABRB3):c.1068C>T (p.Ser356=)
|
rs369761963
|
0.00003
|
NM_000814.6(GABRB3):c.1081-17A>G
|
rs963453392
|
0.00003
|
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)
|
rs369631109
|
0.00003
|
NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val)
|
rs377215030
|
0.00003
|
NM_000814.6(GABRB3):c.156A>T (p.Leu52=)
|
rs368193507
|
0.00003
|
NM_000814.6(GABRB3):c.174T>G (p.Gly58=)
|
rs749519657
|
0.00003
|
NM_000814.6(GABRB3):c.180G>A (p.Pro60=)
|
rs775865564
|
0.00003
|
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)
|
rs756369937
|
0.00003
|
NM_000814.6(GABRB3):c.321G>A (p.Thr107=)
|
rs367761610
|
0.00003
|
NM_000814.6(GABRB3):c.321G>T (p.Thr107=)
|
rs367761610
|
0.00003
|
NM_000814.6(GABRB3):c.417C>T (p.Arg139=)
|
rs933729675
|
0.00003
|
NM_000814.6(GABRB3):c.544+3G>T
|
rs377463653
|
0.00003
|
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met)
|
rs769801846
|
0.00003
|
NM_000814.6(GABRB3):c.80+12G>A
|
rs926231041
|
0.00003
|
NM_000814.6(GABRB3):c.836-20C>T
|
rs369364757
|
0.00003
|
NM_000814.6(GABRB3):c.936C>T (p.Gly312=)
|
rs147532209
|
0.00003
|
NM_000814.6(GABRB3):c.969G>A (p.Glu323=)
|
rs77608123
|
0.00003
|
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu)
|
rs1224993536
|
0.00002
|
NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser)
|
rs757233280
|
0.00002
|
NM_000814.6(GABRB3):c.1159G>A (p.Asp387Asn)
|
rs373823173
|
0.00002
|
NM_000814.6(GABRB3):c.1266G>A (p.Pro422=)
|
rs377621777
|
0.00002
|
NM_000814.6(GABRB3):c.172+10C>T
|
rs764970437
|
0.00002
|
NM_000814.6(GABRB3):c.172+4A>G
|
rs752221563
|
0.00002
|
NM_000814.6(GABRB3):c.173-13G>C
|
rs371144939
|
0.00002
|
NM_000814.6(GABRB3):c.240+12C>T
|
rs25408
|
0.00002
|
NM_000814.6(GABRB3):c.241-9T>C
|
rs771268184
|
0.00002
|
NM_000814.6(GABRB3):c.513C>T (p.Asp171=)
|
rs200507900
|
0.00002
|
NM_000814.6(GABRB3):c.648C>T (p.His216=)
|
rs144001770
|
0.00002
|
NM_000814.6(GABRB3):c.753T>C (p.Tyr251=)
|
rs150534186
|
0.00002
|
NM_000814.6(GABRB3):c.80+4G>C
|
rs542737772
|
0.00002
|
NM_000814.6(GABRB3):c.81-3C>T
|
rs746996582
|
0.00002
|
NM_000814.6(GABRB3):c.840C>T (p.Ile280=)
|
rs1053195381
|
0.00002
|
NM_000814.6(GABRB3):c.918T>A (p.Ile306=)
|
rs756626803
|
0.00002
|
NM_000814.6(GABRB3):c.942C>T (p.Phe314=)
|
rs757856929
|
0.00002
|
NM_021912.5(GABRB3):c.80+10G>A
|
rs763316211
|
0.00002
|
NM_000814.6(GABRB3):c.1059T>C (p.Arg353=)
|
rs373254789
|
0.00001
|
NM_000814.6(GABRB3):c.1069G>A (p.Glu357Lys)
|
rs572427454
|
0.00001
|
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp)
|
rs771568810
|
0.00001
|
NM_000814.6(GABRB3):c.1079G>A (p.Arg360Gln)
|
rs778442239
|
0.00001
|
NM_000814.6(GABRB3):c.1104G>C (p.Leu368=)
|
rs777145235
|
0.00001
|
NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser)
|
rs756866953
|
0.00001
|
NM_000814.6(GABRB3):c.1139A>C (p.Glu380Ala)
|
rs745675693
|
0.00001
|
NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val)
|
rs1352939866
|
0.00001
|
NM_000814.6(GABRB3):c.1226G>A (p.Arg409Gln)
|
rs766795597
|
0.00001
|
NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln)
|
rs373229638
|
0.00001
|
NM_000814.6(GABRB3):c.1286G>A (p.Arg429Gln)
|
rs777882335
|
0.00001
|
NM_000814.6(GABRB3):c.1327A>T (p.Thr443Ser)
|
rs1218316231
|
0.00001
|
NM_000814.6(GABRB3):c.1329C>T (p.Thr443=)
|
rs754147659
|
0.00001
|
NM_000814.6(GABRB3):c.1330G>A (p.Asp444Asn)
|
rs766672883
|
0.00001
|
NM_000814.6(GABRB3):c.1362C>T (p.Ile454=)
|
rs745449592
|
0.00001
|
NM_000814.6(GABRB3):c.136A>C (p.Lys46Gln)
|
rs1057520112
|
0.00001
|
NM_000814.6(GABRB3):c.172+16G>A
|
rs1891184947
|
0.00001
|
NM_000814.6(GABRB3):c.172+17C>T
|
rs1891184871
|
0.00001
|
NM_000814.6(GABRB3):c.172+8G>C
|
rs1451838565
|
0.00001
|
NM_000814.6(GABRB3):c.173-17T>A
|
rs1178284927
|
0.00001
|
NM_000814.6(GABRB3):c.173-5C>G
|
rs547678442
|
0.00001
|
NM_000814.6(GABRB3):c.183C>G (p.Val61=)
|
rs778097525
|
0.00001
|
NM_000814.6(GABRB3):c.217G>C (p.Asp73His)
|
rs768859258
|
0.00001
|
NM_000814.6(GABRB3):c.241-8C>T
|
rs532293456
|
0.00001
|
NM_000814.6(GABRB3):c.291C>T (p.Leu97=)
|
rs779511362
|
0.00001
|
NM_000814.6(GABRB3):c.307C>T (p.Pro103Ser)
|
rs267604145
|
0.00001
|
NM_000814.6(GABRB3):c.329A>G (p.Asn110Ser)
|
rs751329477
|
0.00001
|
NM_000814.6(GABRB3):c.33C>T (p.Gly11=)
|
rs1219990897
|
0.00001
|
NM_000814.6(GABRB3):c.348A>G (p.Leu116=)
|
rs758378648
|
0.00001
|
NM_000814.6(GABRB3):c.34A>G (p.Ile12Val)
|
rs1451852360
|
0.00001
|
NM_000814.6(GABRB3):c.393G>T (p.Val131=)
|
rs1892476911
|
0.00001
|
NM_000814.6(GABRB3):c.434C>G (p.Pro145Arg)
|
rs1325124119
|
0.00001
|
NM_000814.6(GABRB3):c.558G>A (p.Thr186=)
|
rs745982738
|
0.00001
|
NM_000814.6(GABRB3):c.598G>A (p.Val200Ile)
|
rs372359936
|
0.00001
|
NM_000814.6(GABRB3):c.637A>G (p.Ile213Val)
|
rs749931408
|
0.00001
|
NM_000814.6(GABRB3):c.639C>T (p.Ile213=)
|
rs767178198
|
0.00001
|
NM_000814.6(GABRB3):c.640G>A (p.Val214Met)
|
rs761554616
|
0.00001
|
NM_000814.6(GABRB3):c.649C>T (p.Arg217Cys)
|
rs1301259280
|
0.00001
|
NM_000814.6(GABRB3):c.660G>A (p.Ser220=)
|
rs745841016
|
0.00001
|
NM_000814.6(GABRB3):c.682_682+3dup
|
rs1254941219
|
0.00001
|
NM_000814.6(GABRB3):c.683-16T>C
|
rs1269995867
|
0.00001
|
NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp)
|
rs144496462
|
0.00001
|
NM_000814.6(GABRB3):c.713G>A (p.Arg238Gln)
|
rs773257229
|
0.00001
|
NM_000814.6(GABRB3):c.73G>T (p.Ala25Ser)
|
rs1448726231
|
0.00001
|
NM_000814.6(GABRB3):c.774G>A (p.Thr258=)
|
rs779417468
|
0.00001
|
NM_000814.6(GABRB3):c.81-11C>T
|
rs759375301
|
0.00001
|
NM_000814.6(GABRB3):c.847G>A (p.Val283Met)
|
rs1595440460
|
0.00001
|
NM_000814.6(GABRB3):c.975C>T (p.Ala325=)
|
rs1160874734
|
0.00001
|
NC_000015.10:g.26773704C>T
|
rs1060504683
|
|
NC_000015.10:g.26773790G>C
|
rs20317
|
|
NC_000015.9:g.(?_26792940)_(26793301_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(26828581_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(26866701_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(26866701_?)dup
|
|
|
NC_000015.9:g.(?_26792940)_(27018109_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(27018109_?)dup
|
|
|
NC_000015.9:g.(?_26792940)_(27020442_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(27020442_?)dup
|
|
|
NC_000015.9:g.(?_26866441)_(26866701_?)del
|
|
|
NC_000015.9:g.(?_26866441)_(27018109_?)dup
|
|
|
NC_000015.9:g.(?_27017529)_(27018109_?)del
|
|
|
NC_000015.9:g.(?_27017808)_(27020442_?)dup
|
|
|
NM_000814.6(GABRB3):c.1005C>G (p.Gly335=)
|
rs74907974
|
|
NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)
|
rs74907974
|
|
NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln)
|
rs761102474
|
|
NM_000814.6(GABRB3):c.1023G>T (p.Lys341Asn)
|
|
|
NM_000814.6(GABRB3):c.1030G>A (p.Glu344Lys)
|
|
|
NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro)
|
rs1365439059
|
|
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser)
|
rs763319754
|
|
NM_000814.6(GABRB3):c.1054del (p.Asp352fs)
|
rs1889959221
|
|
NM_000814.6(GABRB3):c.1070A>C (p.Glu357Ala)
|
|
|
NM_000814.6(GABRB3):c.1080+14_1080+15inv
|
|
|
NM_000814.6(GABRB3):c.1080+3A>G
|
rs1889957496
|
|
NM_000814.6(GABRB3):c.1080+7T>C
|
|
|
NM_000814.6(GABRB3):c.1081-10G>T
|
|
|
NM_000814.6(GABRB3):c.1081-13del
|
rs755203442
|
|
NM_000814.6(GABRB3):c.1081-5A>G
|
|
|
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met)
|
rs1889329356
|
|
NM_000814.6(GABRB3):c.1086T>C (p.Asp362=)
|
|
|
NM_000814.6(GABRB3):c.1090C>T (p.His364Tyr)
|
|
|
NM_000814.6(GABRB3):c.1097A>G (p.Asn366Ser)
|
rs759847671
|
|
NM_000814.6(GABRB3):c.1099A>G (p.Ile367Val)
|
|
|
NM_000814.6(GABRB3):c.1100T>C (p.Ile367Thr)
|
|
|
NM_000814.6(GABRB3):c.1101T>A (p.Ile367=)
|
rs2140645991
|
|
NM_000814.6(GABRB3):c.1105T>G (p.Leu369Val)
|
|
|
NM_000814.6(GABRB3):c.1111T>G (p.Ser371Ala)
|
|
|
NM_000814.6(GABRB3):c.1115T>G (p.Leu372Arg)
|
|
|
NM_000814.6(GABRB3):c.1116G>T (p.Leu372=)
|
|
|
NM_000814.6(GABRB3):c.1117G>A (p.Glu373Lys)
|
|
|
NM_000814.6(GABRB3):c.1127A>C (p.Asn376Thr)
|
rs756866953
|
|
NM_000814.6(GABRB3):c.1136A>G (p.Asn379Ser)
|
|
|
NM_000814.6(GABRB3):c.1140G>A (p.Glu380=)
|
|
|
NM_000814.6(GABRB3):c.1146A>G (p.Ser382=)
|
rs2140645804
|
|
NM_000814.6(GABRB3):c.1148G>A (p.Gly383Asp)
|
rs1567090411
|
|
NM_000814.6(GABRB3):c.1151G>T (p.Gly384Val)
|
|
|
NM_000814.6(GABRB3):c.1167G>A (p.Arg389=)
|
|
|
NM_000814.6(GABRB3):c.1177A>G (p.Ile393Val)
|
|
|
NM_000814.6(GABRB3):c.1178T>C (p.Ile393Thr)
|
|
|
NM_000814.6(GABRB3):c.1182del (p.Phe395fs)
|
rs2140645684
|
|
NM_000814.6(GABRB3):c.1185T>C (p.Phe395=)
|
|
|
NM_000814.6(GABRB3):c.118A>G (p.Thr40Ala)
|
|
|
NM_000814.6(GABRB3):c.1192T>A (p.Ser398Thr)
|
|
|
NM_000814.6(GABRB3):c.1194A>T (p.Ser398=)
|
|
|
NM_000814.6(GABRB3):c.119C>T (p.Thr40Met)
|
rs1178513934
|
|
NM_000814.6(GABRB3):c.11T>G (p.Leu4Arg)
|
|
|
NM_000814.6(GABRB3):c.1211A>T (p.Lys404Ile)
|
rs2140645593
|
|
NM_000814.6(GABRB3):c.1216_1217del (p.Ser406fs)
|
|
|
NM_000814.6(GABRB3):c.1219A>G (p.Met407Val)
|
|
|
NM_000814.6(GABRB3):c.1225C>T (p.Arg409Ter)
|
rs1555400368
|
|
NM_000814.6(GABRB3):c.1240C>T (p.Arg414Ter)
|
rs536564598
|
|
NM_000814.6(GABRB3):c.1245C>T (p.Phe415=)
|
|
|
NM_000814.6(GABRB3):c.1248G>C (p.Leu416=)
|
|
|
NM_000814.6(GABRB3):c.1250G>A (p.Gly417Glu)
|
rs1889319677
|
|
NM_000814.6(GABRB3):c.1261C>T (p.Leu421Phe)
|
|
|
NM_000814.6(GABRB3):c.1276A>C (p.Thr426Pro)
|
|
|
NM_000814.6(GABRB3):c.1285C>T (p.Arg429Trp)
|
|
|
NM_000814.6(GABRB3):c.1296T>C (p.Ser432=)
|
|
|
NM_000814.6(GABRB3):c.1302G>C (p.Gln434His)
|
|
|
NM_000814.6(GABRB3):c.1303C>G (p.Leu435Val)
|
|
|
NM_000814.6(GABRB3):c.1305C>G (p.Leu435=)
|
|
|
NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr)
|
rs2140645254
|
|
NM_000814.6(GABRB3):c.1320T>C (p.Pro440=)
|
|
|
NM_000814.6(GABRB3):c.1321dup (p.Asp441fs)
|
rs2140645222
|
|
NM_000814.6(GABRB3):c.1332T>C (p.Asp444=)
|
|
|
NM_000814.6(GABRB3):c.1344A>C (p.Ile448=)
|
|
|
NM_000814.6(GABRB3):c.1348A>T (p.Arg450Ter)
|
rs2140645141
|
|
NM_000814.6(GABRB3):c.1350A>G (p.Arg450=)
|
|
|
NM_000814.6(GABRB3):c.1362C>G (p.Ile454Met)
|
rs745449592
|
|
NM_000814.6(GABRB3):c.1368del (p.Pro457fs)
|
|
|
NM_000814.6(GABRB3):c.1384C>G (p.Leu462Val)
|
|
|
NM_000814.6(GABRB3):c.1399T>C (p.Tyr467His)
|
rs1889312439
|
|
NM_000814.6(GABRB3):c.1400A>C (p.Tyr467Ser)
|
|
|
NM_000814.6(GABRB3):c.1410C>T (p.Tyr470=)
|
|
|
NM_000814.6(GABRB3):c.1414_1416del (p.Val472del)
|
|
|
NM_000814.6(GABRB3):c.1419C>G (p.Asn473Lys)
|
|
|
NM_000814.6(GABRB3):c.143A>G (p.Tyr48Cys)
|
rs2140199598
|
|
NM_000814.6(GABRB3):c.144C>T (p.Tyr48=)
|
rs868652432
|
|
NM_000814.6(GABRB3):c.145G>A (p.Asp49Asn)
|
|
|
NM_000814.6(GABRB3):c.147C>G (p.Asp49Glu)
|
rs557694936
|
|
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
|
|
|
NM_000814.6(GABRB3):c.154C>T (p.Leu52=)
|
rs1057524415
|
|
NM_000814.6(GABRB3):c.156A>G (p.Leu52=)
|
|
|
NM_000814.6(GABRB3):c.15G>A (p.Ala5=)
|
|
|
NM_000814.6(GABRB3):c.15G>C (p.Ala5=)
|
|
|
NM_000814.6(GABRB3):c.160C>T (p.Pro54Ser)
|
|
|
NM_000814.6(GABRB3):c.167T>C (p.Phe56Ser)
|
rs1891185887
|
|
NM_000814.6(GABRB3):c.169G>C (p.Gly57Arg)
|
rs1891185775
|
|
NM_000814.6(GABRB3):c.172+18G>A
|
|
|
NM_000814.6(GABRB3):c.172+19G>A
|
|
|
NM_000814.6(GABRB3):c.172+1del
|
rs1891185645
|
|
NM_000814.6(GABRB3):c.172+3_172+6del
|
rs2140199548
|
|
NM_000814.6(GABRB3):c.172+6T>C
|
|
|
NM_000814.6(GABRB3):c.172+7G>C
|
rs1207655554
|
|
NM_000814.6(GABRB3):c.172+9G>C
|
|
|
NM_000814.6(GABRB3):c.173-10C>T
|
|
|
NM_000814.6(GABRB3):c.173-15C>T
|
rs760478130
|
|
NM_000814.6(GABRB3):c.173-18G>A
|
|
|
NM_000814.6(GABRB3):c.173-4G>T
|
|
|
NM_000814.6(GABRB3):c.173-7C>G
|
|
|
NM_000814.6(GABRB3):c.173G>T (p.Gly58Val)
|
|
|
NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser)
|
rs1555383878
|
|
NM_000814.6(GABRB3):c.184T>G (p.Cys62Gly)
|
rs1595363628
|
|
NM_000814.6(GABRB3):c.190G>C (p.Gly64Arg)
|
rs2140199113
|
|
NM_000814.6(GABRB3):c.191G>A (p.Gly64Glu)
|
rs1891175434
|
|
NM_000814.6(GABRB3):c.192G>C (p.Gly64=)
|
rs1215093816
|
|
NM_000814.6(GABRB3):c.201C>T (p.Ile67=)
|
|
|
NM_000814.6(GABRB3):c.207C>A (p.Ile69=)
|
rs770214111
|
|
NM_000814.6(GABRB3):c.219C>T (p.Asp73=)
|
|
|
NM_000814.6(GABRB3):c.227C>T (p.Ser76Phe)
|
|
|
NM_000814.6(GABRB3):c.228C>T (p.Ser76=)
|
|
|
NM_000814.6(GABRB3):c.231A>T (p.Glu77Asp)
|
|
|
NM_000814.6(GABRB3):c.233T>A (p.Val78Asp)
|
|
|
NM_000814.6(GABRB3):c.238A>C (p.Met80Leu)
|
|
|
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr)
|
rs1064794797
|
|
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg)
|
rs1064794797
|
|
NM_000814.6(GABRB3):c.240+10C>T
|
|
|
NM_000814.6(GABRB3):c.240+12_240+13delinsGT
|
rs2140199003
|
|
NM_000814.6(GABRB3):c.240+13C>A
|
|
|
NM_000814.6(GABRB3):c.240+18C>T
|
|
|
NM_000814.6(GABRB3):c.240+19A>G
|
|
|
NM_000814.6(GABRB3):c.240+5G>C
|
|
|
NM_000814.6(GABRB3):c.240+7G>T
|
|
|
NM_000814.6(GABRB3):c.240G>A (p.Met80Ile)
|
rs2140199021
|
|
NM_000814.6(GABRB3):c.241-12T>C
|
rs546175770
|
|
NM_000814.6(GABRB3):c.241-14del
|
|
|
NM_000814.6(GABRB3):c.241-18C>G
|
|
|
NM_000814.6(GABRB3):c.241-1G>A
|
|
|
NM_000814.6(GABRB3):c.241-3del
|
rs760251280
|
|
NM_000814.6(GABRB3):c.241-3dup
|
rs760251280
|
|
NM_000814.6(GABRB3):c.241-7C>T
|
rs1595490139
|
|
NM_000814.6(GABRB3):c.245A>C (p.Tyr82Ser)
|
rs1892483792
|
|
NM_000814.6(GABRB3):c.245A>G (p.Tyr82Cys)
|
rs1892483792
|
|
NM_000814.6(GABRB3):c.25C>A (p.Leu9Ile)
|
|
|
NM_000814.6(GABRB3):c.267A>G (p.Gln89=)
|
rs1892482774
|
|
NM_000814.6(GABRB3):c.26T>C (p.Leu9Pro)
|
|
|
NM_000814.6(GABRB3):c.270A>G (p.Gln90=)
|
|
|
NM_000814.6(GABRB3):c.273T>C (p.Tyr91=)
|
|
|
NM_000814.6(GABRB3):c.282T>G (p.Asp94Glu)
|
rs2140537278
|
|
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser)
|
rs2140537271
|
|
NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys)
|
rs1566778864
|
|
NM_000814.6(GABRB3):c.29T>A (p.Phe10Tyr)
|
|
|
NM_000814.6(GABRB3):c.300T>C (p.Ser100=)
|
rs975508044
|
|
NM_000814.6(GABRB3):c.303G>A (p.Gly101=)
|
|
|
NM_000814.6(GABRB3):c.308C>A (p.Pro103His)
|
rs1892480524
|
|
NM_000814.6(GABRB3):c.310C>T (p.Leu104Phe)
|
rs2140537193
|
|
NM_000814.6(GABRB3):c.311T>C (p.Leu104Pro)
|
rs2140537185
|
|
NM_000814.6(GABRB3):c.320C>T (p.Thr107Met)
|
rs1347499222
|
|
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)
|
rs942355738
|
|
NM_000814.6(GABRB3):c.332G>A (p.Arg111Gln)
|
|
|
NM_000814.6(GABRB3):c.352G>A (p.Val118Met)
|
rs1281101862
|
|
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn)
|
rs886037938
|
|
NM_000814.6(GABRB3):c.366T>C (p.Tyr122=)
|
|
|
NM_000814.6(GABRB3):c.36C>T (p.Ile12=)
|
rs1049486764
|
|
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe)
|
rs1057519550
|
|
NM_000814.6(GABRB3):c.374del (p.Asn125fs)
|
rs2140536988
|
|
NM_000814.6(GABRB3):c.379A>G (p.Lys127Glu)
|
rs2140536974
|
|
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg)
|
rs1057519201
|
|
NM_000814.6(GABRB3):c.381A>G (p.Lys127=)
|
rs754026886
|
|
NM_000814.6(GABRB3):c.387A>G (p.Ser129=)
|
|
|
NM_000814.6(GABRB3):c.394C>T (p.His132Tyr)
|
rs1892476793
|
|
NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly)
|
|
|
NM_000814.6(GABRB3):c.405_406del (p.Val136fs)
|
rs2140536878
|
|
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer)
|
rs1892476410
|
|
NM_000814.6(GABRB3):c.40T>G (p.Ser14Ala)
|
|
|
NM_000814.6(GABRB3):c.413A>C (p.Asn138Thr)
|
rs1892475991
|
|
NM_000814.6(GABRB3):c.416G>A (p.Arg139His)
|
rs1197311612
|
|
NM_000814.6(GABRB3):c.416G>T (p.Arg139Leu)
|
|
|
NM_000814.6(GABRB3):c.418A>G (p.Met140Val)
|
rs1555371848
|
|
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys)
|
rs1892475061
|
|
NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg)
|
rs1595489812
|
|
NM_000814.6(GABRB3):c.42G>C (p.Ser14=)
|
|
|
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
|
|
|
NM_000814.6(GABRB3):c.454G>A (p.Gly152Arg)
|
|
|
NM_000814.6(GABRB3):c.456G>A (p.Gly152=)
|
|
|
NM_000814.6(GABRB3):c.458T>C (p.Leu153Pro)
|
rs1892473840
|
|
NM_000814.6(GABRB3):c.459C>T (p.Leu153=)
|
rs2140536698
|
|
NM_000814.6(GABRB3):c.461+17A>G
|
|
|
NM_000814.6(GABRB3):c.461+19G>A
|
|
|
NM_000814.6(GABRB3):c.461+4T>A
|
|
|
NM_000814.6(GABRB3):c.461+5G>T
|
rs1892473626
|
|
NM_000814.6(GABRB3):c.462-13C>T
|
|
|
NM_000814.6(GABRB3):c.462-14C>T
|
rs1034382308
|
|
NM_000814.6(GABRB3):c.462-16A>G
|
|
|
NM_000814.6(GABRB3):c.462-6T>A
|
|
|
NM_000814.6(GABRB3):c.462-7A>G
|
rs1404162429
|
|
NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn)
|
rs78196007
|
|
NM_000814.6(GABRB3):c.467C>T (p.Thr156Ile)
|
|
|
NM_000814.6(GABRB3):c.46C>T (p.Pro16Ser)
|
|
|
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met)
|
rs2140737885
|
|
NM_000814.6(GABRB3):c.479C>T (p.Ala160Val)
|
rs1890858644
|
|
NM_000814.6(GABRB3):c.481T>A (p.Cys161Ser)
|
|
|
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile)
|
rs2140737836
|
|
NM_000814.6(GABRB3):c.487A>G (p.Met163Val)
|
rs1060502666
|
|
NM_000814.6(GABRB3):c.48G>A (p.Pro16=)
|
|
|
NM_000814.6(GABRB3):c.498G>A (p.Arg166=)
|
|
|
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter)
|
rs1060502665
|
|
NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu)
|
rs1555368630
|
|
NM_000814.6(GABRB3):c.507C>A (p.Pro169=)
|
|
|
NM_000814.6(GABRB3):c.514G>C (p.Glu172Gln)
|
|
|
NM_000814.6(GABRB3):c.522C>G (p.Asn174Lys)
|
rs2140737726
|
|
NM_000814.6(GABRB3):c.525C>G (p.Cys175Trp)
|
|
|
NM_000814.6(GABRB3):c.526A>G (p.Thr176Ala)
|
|
|
NM_000814.6(GABRB3):c.53T>A (p.Leu18Gln)
|
rs2140199978
|
|
NM_000814.6(GABRB3):c.544+10C>T
|
rs372692704
|
|
NM_000814.6(GABRB3):c.544+11G>A
|
|
|
NM_000814.6(GABRB3):c.544+11G>T
|
|
|
NM_000814.6(GABRB3):c.544+12T>C
|
|
|
NM_000814.6(GABRB3):c.544+14T>G
|
|
|
NM_000814.6(GABRB3):c.544T>C (p.Tyr182His)
|
|
|
NM_000814.6(GABRB3):c.545-2A>G
|
|
|
NM_000814.6(GABRB3):c.545A>G (p.Tyr182Cys)
|
rs886037939
|
|
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)
|
|
|
NM_000814.6(GABRB3):c.553A>C (p.Thr185Pro)
|
rs1890748867
|
|
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile)
|
rs1131691481
|
|
NM_000814.6(GABRB3):c.55G>C (p.Val19Leu)
|
rs1891194798
|
|
NM_000814.6(GABRB3):c.563A>T (p.Asp188Val)
|
|
|
NM_000814.6(GABRB3):c.570G>A (p.Glu190=)
|
rs2140730701
|
|
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter)
|
rs1555368345
|
|
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln)
|
rs369581041
|
|
NM_000814.6(GABRB3):c.593A>C (p.Lys198Thr)
|
|
|
NM_000814.6(GABRB3):c.594G>A (p.Lys198=)
|
rs1381956789
|
|
NM_000814.6(GABRB3):c.59C>T (p.Ala20Val)
|
rs2140199975
|
|
NM_000814.6(GABRB3):c.600T>C (p.Val200=)
|
rs1595456673
|
|
NM_000814.6(GABRB3):c.609G>A (p.Val203=)
|
|
|
NM_000814.6(GABRB3):c.621G>A (p.Glu207=)
|
|
|
NM_000814.6(GABRB3):c.645G>A (p.Glu215=)
|
|
|
NM_000814.6(GABRB3):c.64G>T (p.Val22Leu)
|
|
|
NM_000814.6(GABRB3):c.659C>T (p.Ser220Leu)
|
|
|
NM_000814.6(GABRB3):c.662G>A (p.Arg221Lys)
|
|
|
NM_000814.6(GABRB3):c.666T>C (p.Asn222=)
|
|
|
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)
|
rs2140730286
|
|
NM_000814.6(GABRB3):c.668T>A (p.Val223Asp)
|
rs2140730292
|
|
NM_000814.6(GABRB3):c.670G>T (p.Val224Phe)
|
|
|
NM_000814.6(GABRB3):c.673T>G (p.Phe225Val)
|
rs2140730279
|
|
NM_000814.6(GABRB3):c.679A>G (p.Thr227Ala)
|
rs1890741727
|
|
NM_000814.6(GABRB3):c.682+7C>T
|
rs2140730250
|
|
NM_000814.6(GABRB3):c.683-10T>G
|
|
|
NM_000814.6(GABRB3):c.683-11G>T
|
|
|
NM_000814.6(GABRB3):c.683-12T>C
|
|
|
NM_000814.6(GABRB3):c.683-14T>C
|
|
|
NM_000814.6(GABRB3):c.683-29_683-18del
|
|
|
NM_000814.6(GABRB3):c.683-3T>C
|
rs79917963
|
|
NM_000814.6(GABRB3):c.683-7C>T
|
|
|
NM_000814.6(GABRB3):c.683-9_683-8del
|
rs1890232405
|
|
NM_000814.6(GABRB3):c.689A>G (p.Tyr230Cys)
|
rs1890231872
|
|
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)
|
rs1595445975
|
|
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)
|
rs797045045
|
|
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter)
|
|
|
NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu)
|
rs1567113254
|
|
NM_000814.6(GABRB3):c.719A>G (p.Lys240Arg)
|
|
|
NM_000814.6(GABRB3):c.732A>C (p.Gly244=)
|
rs1890229760
|
|
NM_000814.6(GABRB3):c.735C>T (p.Tyr245=)
|
|
|
NM_000814.6(GABRB3):c.73G>A (p.Ala25Thr)
|
rs1448726231
|
|
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr)
|
rs1890229008
|
|
NM_000814.6(GABRB3):c.758C>A (p.Pro253His)
|
rs1064796514
|
|
NM_000814.6(GABRB3):c.761C>A (p.Ser254Tyr)
|
rs1057519549
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NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe)
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rs1057519549
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NM_000814.6(GABRB3):c.778C>A (p.Leu260Met)
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NM_000814.6(GABRB3):c.782_783delinsTA (p.Ser261Leu)
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rs1890228050
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NM_000814.6(GABRB3):c.799A>G (p.Ile267Val)
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rs2140696625
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NM_000814.6(GABRB3):c.80+10C>G
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rs2140199945
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NM_000814.6(GABRB3):c.80+11G>T
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NM_000814.6(GABRB3):c.80+15G>A
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NM_000814.6(GABRB3):c.80+7T>C
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NM_000814.6(GABRB3):c.80+8C>A
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NM_000814.6(GABRB3):c.804T>C (p.Asn268=)
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NM_000814.6(GABRB3):c.804T>G (p.Asn268Lys)
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NM_000814.6(GABRB3):c.81-15C>G
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NM_000814.6(GABRB3):c.81-16C>G
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NM_000814.6(GABRB3):c.81-19C>T
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NM_000814.6(GABRB3):c.81-5C>G
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rs201579427
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NM_000814.6(GABRB3):c.81-7C>T
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NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr)
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NM_000814.6(GABRB3):c.835+16A>G
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NM_000814.6(GABRB3):c.835+20G>A
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NM_000814.6(GABRB3):c.835+5G>T
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rs374357218
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NM_000814.6(GABRB3):c.835+6T>C
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rs1890226391
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NM_000814.6(GABRB3):c.835+7G>C
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NM_000814.6(GABRB3):c.835G>A (p.Gly279Arg)
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rs1890226806
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NM_000814.6(GABRB3):c.836-10T>C
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rs1595440495
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NM_000814.6(GABRB3):c.836-19del
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rs779616935
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NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe)
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rs1057518036
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NM_000814.6(GABRB3):c.845C>T (p.Thr282Ile)
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NM_000814.6(GABRB3):c.850_852dup (p.Leu284dup)
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rs2140680304
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NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile)
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rs1595440448
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NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala)
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rs1595440443
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NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile)
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rs1555401440
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NM_000814.6(GABRB3):c.866T>C (p.Ile289Thr)
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NM_000814.6(GABRB3):c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
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NM_000814.6(GABRB3):c.868A>C (p.Asn290His)
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NM_000814.6(GABRB3):c.878T>C (p.Leu293Pro)
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rs2140680258
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NM_000814.6(GABRB3):c.87C>G (p.Asn29Lys)
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rs772263479
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NM_000814.6(GABRB3):c.881G>A (p.Arg294Gln)
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NM_000814.6(GABRB3):c.885G>A (p.Glu295=)
|
rs749704431
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NM_000814.6(GABRB3):c.892C>T (p.Pro298Ser)
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NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln)
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rs1567106381
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NM_000814.6(GABRB3):c.896A>G (p.Lys299Arg)
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NM_000814.6(GABRB3):c.898A>G (p.Ile300Val)
|
rs1567106362
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NM_000814.6(GABRB3):c.89A>C (p.Asp30Ala)
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NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu)
|
rs1889966534
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NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)
|
rs1889966424
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NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu)
|
rs1555401426
|
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NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)
|
rs1889966043
|
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NM_000814.6(GABRB3):c.915C>T (p.Ala305=)
|
rs1889965667
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|
NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr)
|
rs1889965425
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NM_000814.6(GABRB3):c.91_92delinsTT (p.Pro31Phe)
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|
|
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg)
|
rs746425161
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NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter)
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|
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NM_000814.6(GABRB3):c.932T>C (p.Met311Thr)
|
rs1889964664
|
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NM_000814.6(GABRB3):c.93C>T (p.Pro31=)
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|
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NM_000814.6(GABRB3):c.943G>A (p.Val315Ile)
|
rs1889964397
|
|
NM_000814.6(GABRB3):c.943G>T (p.Val315Phe)
|
|
|
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg)
|
rs71651682
|
|
NM_000814.6(GABRB3):c.958G>A (p.Ala320Thr)
|
rs2140680027
|
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NM_000814.6(GABRB3):c.967G>A (p.Glu323Lys)
|
|
|
NM_000814.6(GABRB3):c.982A>C (p.Asn328His)
|
rs2140679963
|
|
NM_000814.6(GABRB3):c.985T>C (p.Tyr329His)
|
rs1889963053
|
|
NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter)
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|
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NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser)
|
rs1555401411
|
|
NM_000814.6(GABRB3):c.99C>T (p.Asn33=)
|
|
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NM_000814.6(GABRB3):c.9C>G (p.Gly3=)
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|
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NM_021912.5(GABRB3):c.2T>C (p.Met1Thr)
|
rs1595364724
|
|