|
GRCh37/hg19 5q34(chr5:161447133-161547033)x1
|
|
|
GRCh37/hg19 5q34(chr5:161479977-161590162)x1
|
|
|
GRCh37/hg19 5q34(chr5:161493370-161531041)x1
|
|
|
GRCh37/hg19 5q34(chr5:161547032-161575610)x1
|
|
|
GRCh37/hg19 5q34(chr5:161547033-161572618)x1
|
|
|
GRCh37/hg19 5q34(chr5:161555799-161624613)x1
|
|
|
NC_000005.10:g.(?_162066642)_(162156539_?)del
|
|
|
NC_000005.10:g.(?_162067980)_(162068126_?)del
|
|
|
NC_000005.10:g.(?_162101215)_(162104046_?)del
|
|
|
NC_000005.10:g.(?_162101225)_(162153368_?)del
|
|
|
NC_000005.10:g.(?_162142144)_(162153388_?)del
|
|
|
NC_000005.9:g.(?_161381199_161531016del
|
|
|
NC_000005.9:g.(?_161495006)_(161580374_?)del
|
|
|
NC_000005.9:g.(?_161528235)_(161580379_?)dup
|
|
|
NC_000005.9:g.(?_161528241)_(161582545_?)dup
|
|
|
NM_198903.2(GABRG2):c.*1320G>A
|
rs886060385
|
|
NM_198903.2(GABRG2):c.*1392A>T
|
rs886060386
|
|
NM_198903.2(GABRG2):c.*1427C>T
|
rs375013278
|
|
NM_198903.2(GABRG2):c.*1468A>G
|
rs372041761
|
|
NM_198903.2(GABRG2):c.*1497C>T
|
rs11956247
|
|
NM_198903.2(GABRG2):c.*1518A>G
|
rs567153845
|
|
NM_198903.2(GABRG2):c.*1636T>C
|
rs551794496
|
|
NM_198903.2(GABRG2):c.*1763A>T
|
rs886060387
|
|
NM_198903.2(GABRG2):c.*1889C>A
|
rs886060388
|
|
NM_198903.2(GABRG2):c.*194G>A
|
rs758832535
|
|
NM_198903.2(GABRG2):c.*1974G>A
|
rs150875037
|
|
NM_198903.2(GABRG2):c.*1981G>C
|
rs886060389
|
|
NM_198903.2(GABRG2):c.*2095C>G
|
rs138297122
|
|
NM_198903.2(GABRG2):c.*20A>C
|
rs796052501
|
|
NM_198903.2(GABRG2):c.*2120_*2121del
|
rs34705786
|
|
NM_198903.2(GABRG2):c.*247T>C
|
rs371389067
|
|
NM_198903.2(GABRG2):c.*250A>C
|
rs886060384
|
|
NM_198903.2(GABRG2):c.*261G>A
|
rs148001179
|
|
NM_198903.2(GABRG2):c.*32T>C
|
rs749257839
|
|
NM_198903.2(GABRG2):c.*343A>G
|
rs41275341
|
|
NM_198903.2(GABRG2):c.*385G>A
|
rs185169107
|
|
NM_198903.2(GABRG2):c.*422C>T
|
rs752382943
|
|
NM_198903.2(GABRG2):c.*441T>C
|
rs188825588
|
|
NM_198903.2(GABRG2):c.*609C>T
|
rs418210
|
|
NM_198903.2(GABRG2):c.*661T>A
|
rs424740
|
|
NM_198903.2(GABRG2):c.*794A>G
|
rs73316347
|
|
NM_198903.2(GABRG2):c.*797G>T
|
rs118064447
|
|
NM_198903.2(GABRG2):c.-104T>G
|
rs886060380
|
|
NM_198903.2(GABRG2):c.-114T>C
|
rs886060379
|
|
NM_198903.2(GABRG2):c.-154C>T
|
rs3219203
|
|
NM_198903.2(GABRG2):c.-179T>A
|
rs886060378
|
|
NM_198903.2(GABRG2):c.-217C>G
|
rs748771306
|
|
NM_198903.2(GABRG2):c.-241A>C
|
rs886060377
|
|
NM_198903.2(GABRG2):c.-250C>T
|
rs886060376
|
|
NM_198903.2(GABRG2):c.-268C>A
|
rs886060375
|
|
NM_198903.2(GABRG2):c.-282C>T
|
|
|
NM_198903.2(GABRG2):c.-334C>T
|
rs886060374
|
|
NM_198903.2(GABRG2):c.-355A>C
|
|
|
NM_198903.2(GABRG2):c.-4del
|
rs771282908
|
|
NM_198903.2(GABRG2):c.-4dup
|
rs771282908
|
|
NM_198903.2(GABRG2):c.1005G>A (p.Trp335Ter)
|
rs1554100509
|
|
NM_198903.2(GABRG2):c.1012A>G (p.Lys338Glu)
|
rs1561658609
|
|
NM_198903.2(GABRG2):c.1016A>T (p.Asp339Val)
|
rs1554100510
|
|
NM_198903.2(GABRG2):c.1027G>A (p.Ala343Thr)
|
rs1581439874
|
|
NM_198903.2(GABRG2):c.1035A>G (p.Thr345=)
|
rs1398214382
|
|
NM_198903.2(GABRG2):c.1039T>G (p.Leu347Val)
|
rs796052509
|
|
NM_198903.2(GABRG2):c.1042+108A>C
|
rs12520992
|
|
NM_198903.2(GABRG2):c.1042+20G>A
|
rs11575991
|
|
NM_198903.2(GABRG2):c.1042+6A>G
|
rs375294947
|
|
NM_198903.2(GABRG2):c.1047C>G (p.Ile349Met)
|
rs1554100910
|
|
NM_198903.2(GABRG2):c.1062A>G (p.Thr354=)
|
rs377502016
|
|
NM_198903.2(GABRG2):c.1068C>A (p.Thr356=)
|
rs1207623268
|
|
NM_198903.2(GABRG2):c.106G>A (p.Gly36Ser)
|
rs866056788
|
|
NM_198903.2(GABRG2):c.107+11C>A
|
rs376576632
|
|
NM_198903.2(GABRG2):c.107+12C>T
|
rs369466385
|
|
NM_198903.2(GABRG2):c.107+223T>G
|
rs149245576
|
|
NM_198903.2(GABRG2):c.107+3A>G
|
rs796052517
|
|
NM_198903.2(GABRG2):c.107+6A>G
|
rs868452487
|
|
NM_198903.2(GABRG2):c.1072C>G (p.Leu358Val)
|
rs1561660795
|
|
NM_198903.2(GABRG2):c.1074C>T (p.Leu358=)
|
rs749531013
|
|
NM_198903.2(GABRG2):c.108-182G>A
|
rs146492172
|
|
NM_198903.2(GABRG2):c.1087C>T (p.Arg363Trp)
|
rs796052510
|
|
NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln)
|
rs397514737
|
|
NM_198903.2(GABRG2):c.1094C>T (p.Ser365Leu)
|
rs1581453572
|
|
NM_198903.2(GABRG2):c.1095G>A (p.Ser365=)
|
rs774809218
|
|
NM_198903.2(GABRG2):c.1103A>T (p.Lys368Met)
|
rs121909672
|
|
NM_198903.2(GABRG2):c.1105G>T (p.Val369Phe)
|
rs768061156
|
|
NM_198903.2(GABRG2):c.1112A>G (p.Tyr371Cys)
|
rs1390117240
|
|
NM_198903.2(GABRG2):c.1120G>A (p.Ala374Thr)
|
rs398123523
|
|
NM_198903.2(GABRG2):c.1122G>A (p.Ala374=)
|
rs371601817
|
|
NM_198903.2(GABRG2):c.1127A>G (p.Asp376Gly)
|
rs1060501890
|
|
NM_198903.2(GABRG2):c.1134T>C (p.Phe378=)
|
rs1057521488
|
|
NM_198903.2(GABRG2):c.1145del (p.Cys382fs)
|
rs1060501889
|
|
NM_198903.2(GABRG2):c.1147T>C (p.Phe383Leu)
|
rs1554100923
|
|
NM_198903.2(GABRG2):c.1149C>A (p.Phe383Leu)
|
rs796052511
|
|
NM_198903.2(GABRG2):c.1149C>G (p.Phe383Leu)
|
rs796052511
|
|
NM_198903.2(GABRG2):c.1155del (p.Phe385fs)
|
rs1581453822
|
|
NM_198903.2(GABRG2):c.1181G>T (p.Gly394Val)
|
rs1060501888
|
|
NM_198903.2(GABRG2):c.11C>T (p.Pro4Leu)
|
rs375295110
|
|
NM_198903.2(GABRG2):c.1207C>T (p.Arg403Trp)
|
rs374512652
|
|
NM_198903.2(GABRG2):c.1208G>A (p.Arg403Gln)
|
rs780199000
|
|
NM_198903.2(GABRG2):c.1230T>C (p.Asp410=)
|
rs201824364
|
|
NM_198903.2(GABRG2):c.1232A>C (p.Lys411Thr)
|
rs796052512
|
|
NM_198903.2(GABRG2):c.1233_1235del (p.Lys414del)
|
rs727503941
|
|
NM_198903.2(GABRG2):c.1242A>G (p.Lys414=)
|
rs776166431
|
|
NM_198903.2(GABRG2):c.1248+14T>C
|
rs779125212
|
|
NM_198903.2(GABRG2):c.1248+99C>A
|
rs211014
|
|
NM_198903.2(GABRG2):c.1248+9C>T
|
rs771223451
|
|
NM_198903.2(GABRG2):c.1260G>A (p.Met420Ile)
|
rs1554101092
|
|
NM_198903.2(GABRG2):c.1273-2A>G
|
rs1554101185
|
|
NM_198903.2(GABRG2):c.1273-7G>A
|
rs372884176
|
|
NM_198903.2(GABRG2):c.1273-8C>G
|
rs771660227
|
|
NM_198903.2(GABRG2):c.1273-8C>T
|
rs771660227
|
|
NM_198903.2(GABRG2):c.1276C>T (p.Pro426Ser)
|
rs757311213
|
|
NM_198903.2(GABRG2):c.1290C>A (p.Ile430=)
|
rs1312081444
|
|
NM_198903.2(GABRG2):c.1292G>A (p.Arg431His)
|
rs528036202
|
|
NM_198903.2(GABRG2):c.1302A>G (p.Ser434=)
|
rs1458041410
|
|
NM_198903.2(GABRG2):c.1312C>T (p.Gln438Ter)
|
rs121909674
|
|
NM_198903.2(GABRG2):c.1315A>G (p.Met439Val)
|
rs753097258
|
|
NM_198903.2(GABRG2):c.1317G>T (p.Met439Ile)
|
rs1581462722
|
|
NM_198903.2(GABRG2):c.1327A>G (p.Thr443Ala)
|
rs757868774
|
|
NM_198903.2(GABRG2):c.1337_1338del (p.Gln446fs)
|
rs1554101202
|
|
NM_198903.2(GABRG2):c.1348G>T (p.Glu450Ter)
|
rs1561662283
|
|
NM_198903.2(GABRG2):c.1356C>T (p.Tyr452=)
|
rs749951528
|
|
NM_198903.2(GABRG2):c.135C>T (p.Asp45=)
|
rs375308385
|
|
NM_198903.2(GABRG2):c.1374C>T (p.Asp458=)
|
rs113085352
|
|
NM_198903.2(GABRG2):c.1399T>C (p.Cys467Arg)
|
rs1200142311
|
|
NM_198903.2(GABRG2):c.13A>T (p.Asn5Tyr)
|
rs774337016
|
|
NM_198903.2(GABRG2):c.1404T>C (p.Cys468=)
|
rs141138508
|
|
NM_198903.2(GABRG2):c.1418G>A (p.Arg473Gln)
|
rs774474550
|
|
NM_198903.2(GABRG2):c.1433G>A (p.Arg478Lys)
|
rs796052514
|
|
NM_198903.2(GABRG2):c.1440G>A (p.Gly480=)
|
rs150727562
|
|
NM_198903.2(GABRG2):c.1454G>A (p.Arg485His)
|
rs587780341
|
|
NM_198903.2(GABRG2):c.1454G>T (p.Arg485Leu)
|
rs587780341
|
|
NM_198903.2(GABRG2):c.1470C>T (p.Asp490=)
|
rs202246006
|
|
NM_198903.2(GABRG2):c.1480C>T (p.Arg494Trp)
|
rs796052515
|
|
NM_198903.2(GABRG2):c.1509G>A (p.Leu503=)
|
rs765904792
|
|
NM_198903.2(GABRG2):c.150T>C (p.Ala50=)
|
rs1264403667
|
|
NM_198903.2(GABRG2):c.1513A>T (p.Asn505Tyr)
|
rs1581463309
|
|
NM_198903.2(GABRG2):c.1518G>T (p.Leu506=)
|
rs1581463326
|
|
NM_198903.2(GABRG2):c.1535dup (p.Tyr512Ter)
|
rs1210628894
|
|
NM_198903.2(GABRG2):c.1545G>A (p.Leu515=)
|
rs886060383
|
|
NM_198903.2(GABRG2):c.15T>C (p.Asn5=)
|
rs1057522820
|
|
NM_198903.2(GABRG2):c.162A>G (p.Thr54=)
|
rs748255945
|
|
NM_198903.2(GABRG2):c.173C>A (p.Thr58Asn)
|
rs763218917
|
|
NM_198903.2(GABRG2):c.17T>C (p.Ile6Thr)
|
rs759392289
|
|
NM_198903.2(GABRG2):c.191G>A (p.Gly64Asp)
|
rs1408343754
|
|
NM_198903.2(GABRG2):c.1A>G (p.Met1Val)
|
rs1581275976
|
|
NM_198903.2(GABRG2):c.219G>A (p.Leu73=)
|
rs753076158
|
|
NM_198903.2(GABRG2):c.21G>C (p.Trp7Cys)
|
rs764172866
|
|
NM_198903.2(GABRG2):c.220C>G (p.Leu74Val)
|
rs796052503
|
|
NM_198903.2(GABRG2):c.243T>A (p.Leu81=)
|
rs143295869
|
|
NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln)
|
rs121909673
|
|
NM_198903.2(GABRG2):c.247C>T (p.Pro83Ser)
|
rs587777365
|
|
NM_198903.2(GABRG2):c.24C>A (p.Ser8Arg)
|
rs183259247
|
|
NM_198903.2(GABRG2):c.259+19C>T
|
rs758196181
|
|
NM_198903.2(GABRG2):c.259+20G>A
|
rs200011382
|
|
NM_198903.2(GABRG2):c.259+60A>T
|
rs78369083
|
|
NM_198903.2(GABRG2):c.260-16_260-15del
|
rs747283752
|
|
NM_198903.2(GABRG2):c.260-9T>C
|
rs1581345919
|
|
NM_198903.2(GABRG2):c.269C>T (p.Thr90Met)
|
rs1057520498
|
|
NM_198903.2(GABRG2):c.272T>G (p.Leu91Ter)
|
rs796052518
|
|
NM_198903.2(GABRG2):c.315C>T (p.Asn105=)
|
rs11135176
|
|
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_198903.2(GABRG2):c.327+12A>C
|
rs188717038
|
|
NM_198903.2(GABRG2):c.328-20T>G
|
rs74810777
|
|
NM_198903.2(GABRG2):c.333C>T (p.Tyr111=)
|
rs777192588
|
|
NM_198903.2(GABRG2):c.351dup (p.Ala118fs)
|
rs1554097873
|
|
NM_198903.2(GABRG2):c.353C>T (p.Ala118Val)
|
rs772800839
|
|
NM_198903.2(GABRG2):c.354G>A (p.Ala118=)
|
rs61735412
|
|
NM_198903.2(GABRG2):c.360G>A (p.Thr120=)
|
rs77298346
|
|
NM_198903.2(GABRG2):c.365A>G (p.Tyr122Cys)
|
rs1554097875
|
|
NM_198903.2(GABRG2):c.36A>T (p.Ser12=)
|
rs762058667
|
|
NM_198903.2(GABRG2):c.375T>A (p.Arg125=)
|
rs767423340
|
|
NM_198903.2(GABRG2):c.37G>A (p.Val13Ile)
|
rs796052502
|
|
NM_198903.2(GABRG2):c.402C>G (p.Val134=)
|
rs562384157
|
|
NM_198903.2(GABRG2):c.406C>T (p.Arg136Ter)
|
rs796052504
|
|
NM_198903.2(GABRG2):c.409T>C (p.Leu137=)
|
rs200828542
|
|
NM_198903.2(GABRG2):c.41A>G (p.Tyr14Cys)
|
rs61750979
|
|
NM_198903.2(GABRG2):c.420C>T (p.Asn140=)
|
rs1581350860
|
|
NM_198903.2(GABRG2):c.455T>C (p.Phe152Ser)
|
rs1581350948
|
|
NM_198903.2(GABRG2):c.470A>C (p.Lys157Thr)
|
rs770364855
|
|
NM_198903.2(GABRG2):c.471del (p.Ala158fs)
|
rs1554097890
|
|
NM_198903.2(GABRG2):c.501C>A (p.Asn167Lys)
|
rs1581351046
|
|
NM_198903.2(GABRG2):c.525T>C (p.Asp175=)
|
rs770485021
|
|
NM_198903.2(GABRG2):c.529C>G (p.Arg177Gly)
|
rs267606837
|
|
NM_198903.2(GABRG2):c.52G>C (p.Val18Leu)
|
rs141106898
|
|
NM_198903.2(GABRG2):c.530G>A (p.Arg177Gln)
|
rs1445637165
|
|
NM_198903.2(GABRG2):c.530del (p.Arg177fs)
|
rs878854144
|
|
NM_198903.2(GABRG2):c.540C>A (p.Tyr180Ter)
|
rs1057520476
|
|
NM_198903.2(GABRG2):c.548+14A>G
|
rs1057521821
|
|
NM_198903.2(GABRG2):c.548+306C>T
|
rs76872907
|
|
NM_198903.2(GABRG2):c.549-3T>G
|
rs750459631
|
|
NM_198903.2(GABRG2):c.571C>A (p.Gln191Lys)
|
rs1334776746
|
|
NM_198903.2(GABRG2):c.574T>C (p.Leu192=)
|
rs1554098050
|
|
NM_198903.2(GABRG2):c.579A>G (p.Gln193=)
|
rs751723547
|
|
NM_198903.2(GABRG2):c.582G>A (p.Leu194=)
|
rs781498456
|
|
NM_198903.2(GABRG2):c.583C>A (p.His195Asn)
|
rs981863613
|
|
NM_198903.2(GABRG2):c.588C>T (p.Asn196=)
|
rs211037
|
|
NM_198903.2(GABRG2):c.596T>C (p.Met199Thr)
|
rs770506471
|
|
NM_198903.2(GABRG2):c.608C>G (p.Ser203Cys)
|
rs1334273668
|
|
NM_198903.2(GABRG2):c.631+18T>A
|
rs145582456
|
|
NM_198903.2(GABRG2):c.632-191C>T
|
rs211036
|
|
NM_198903.2(GABRG2):c.632-28TTGTT[5]
|
rs1247520830
|
|
NM_198903.2(GABRG2):c.643A>G (p.Ile215Val)
|
rs211035
|
|
NM_198903.2(GABRG2):c.649C>T (p.Gln217Ter)
|
rs886645578
|
|
NM_198903.2(GABRG2):c.678G>A (p.Ser226=)
|
rs143065876
|
|
NM_198903.2(GABRG2):c.679G>T (p.Ala227Ser)
|
rs148215078
|
|
NM_198903.2(GABRG2):c.703G>T (p.Gly235Cys)
|
rs41311629
|
|
NM_198903.2(GABRG2):c.705C>A (p.Gly235=)
|
rs114972096
|
|
NM_198903.2(GABRG2):c.70A>G (p.Thr24Ala)
|
rs796052516
|
|
NM_198903.2(GABRG2):c.71C>A (p.Thr24Lys)
|
rs1060501891
|
|
NM_198903.2(GABRG2):c.751+129C>T
|
rs211033
|
|
NM_198903.2(GABRG2):c.751+4C>T
|
rs587780948
|
|
NM_198903.2(GABRG2):c.751+52G>A
|
rs34281163
|
|
NM_198903.2(GABRG2):c.752-8C>T
|
rs779617978
|
|
NM_198903.2(GABRG2):c.764G>C (p.Arg255Pro)
|
rs1561645172
|
|
NM_198903.2(GABRG2):c.764G>T (p.Arg255Leu)
|
rs1561645172
|
|
NM_198903.2(GABRG2):c.790C>T (p.Arg264Ter)
|
rs1045493304
|
|
NM_198903.2(GABRG2):c.797_801del (p.Ser265_Ser266insTer)
|
rs1554098222
|
|
NM_198903.2(GABRG2):c.810C>A (p.Gly270=)
|
rs747988447
|
|
NM_198903.2(GABRG2):c.810C>T (p.Gly270=)
|
rs747988447
|
|
NM_198903.2(GABRG2):c.811G>A (p.Asp271Asn)
|
rs773065895
|
|
NM_198903.2(GABRG2):c.824G>A (p.Trp275Ter)
|
rs1554098226
|
|
NM_198903.2(GABRG2):c.837A>G (p.Gln279=)
|
rs78261481
|
|
NM_198903.2(GABRG2):c.84G>C (p.Leu28=)
|
rs1554096092
|
|
NM_198903.2(GABRG2):c.868G>A (p.Glu290Lys)
|
rs549251133
|
|
NM_198903.2(GABRG2):c.888C>T (p.Ser296=)
|
rs201672465
|
|
NM_198903.2(GABRG2):c.889+10A>G
|
rs765703079
|
|
NM_198903.2(GABRG2):c.889+18A>G
|
rs2422105
|
|
NM_198903.2(GABRG2):c.889+20A>C
|
rs182866753
|
|
NM_198903.2(GABRG2):c.889+2T>G
|
rs1561645243
|
|
NM_198903.2(GABRG2):c.889G>A (p.Gly297Arg)
|
rs1554098235
|
|
NM_198903.2(GABRG2):c.890-1G>A
|
rs796052507
|
|
NM_198903.2(GABRG2):c.890-230A>T
|
rs2272600
|
|
NM_198903.2(GABRG2):c.890-7G>A
|
rs751069405
|
|
NM_198903.2(GABRG2):c.890-81A>G
|
rs17060112
|
|
NM_198903.2(GABRG2):c.909T>G (p.Ser303=)
|
rs754514348
|
|
NM_198903.2(GABRG2):c.90G>C (p.Leu30=)
|
rs115976622
|
|
NM_198903.2(GABRG2):c.918T>C (p.Phe306=)
|
rs115126975
|
|
NM_198903.2(GABRG2):c.928A>C (p.Arg310=)
|
rs796052520
|
|
NM_198903.2(GABRG2):c.928A>G (p.Arg310Gly)
|
rs796052520
|
|
NM_198903.2(GABRG2):c.937G>T (p.Gly313Ter)
|
rs1469287853
|
|
NM_198903.2(GABRG2):c.942C>A (p.Tyr314Ter)
|
rs1064794724
|
|
NM_198903.2(GABRG2):c.942C>G (p.Tyr314Ter)
|
rs1064794724
|
|
NM_198903.2(GABRG2):c.958T>G (p.Tyr320Asp)
|
rs1581439671
|
|
NM_198903.2(GABRG2):c.960T>C (p.Tyr320=)
|
rs558779533
|
|
NM_198903.2(GABRG2):c.963C>A (p.Ile321=)
|
rs749127891
|
|
NM_198903.2(GABRG2):c.964C>A (p.Pro322Thr)
|
rs796052508
|
|
NM_198903.2(GABRG2):c.964C>T (p.Pro322Ser)
|
rs796052508
|
|
NM_198903.2(GABRG2):c.973C>G (p.Leu325Val)
|
rs1554100507
|
|
NM_198903.2(GABRG2):c.99C>T (p.Leu33=)
|
rs368162707
|
|
NM_198903.2(GABRG2):c.9G>A (p.Ser3=)
|
rs55716248
|
|
NM_198903.2:c.-61_889+60del
|
|
|
NM_198904.4(GABRG2):c.*117A>G
|
|
|
NM_198904.4(GABRG2):c.*119G>A
|
|
|
NM_198904.4(GABRG2):c.*1407T>A
|
|
|
NM_198904.4(GABRG2):c.*164C>A
|
|
|
NM_198904.4(GABRG2):c.*1678A>G
|
|
|
NM_198904.4(GABRG2):c.*1838T>A
|
|
|
NM_198904.4(GABRG2):c.*239C>G
|
|
|
NM_198904.4(GABRG2):c.*296G>T
|
|
|
NM_198904.4(GABRG2):c.*348A>G
|
|
|
NM_198904.4(GABRG2):c.*367G>A
|
|
|
NM_198904.4(GABRG2):c.*374A>G
|
|
|
NM_198904.4(GABRG2):c.*384C>T
|
|
|
NM_198904.4(GABRG2):c.*468T>G
|
|
|
NM_198904.4(GABRG2):c.-196C>T
|
|
|
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val)
|
|
|
NM_198904.4(GABRG2):c.1010T>G (p.Leu337Arg)
|
|
|
NM_198904.4(GABRG2):c.1012T>C (p.Phe338Leu)
|
|
|
NM_198904.4(GABRG2):c.1045G>A (p.Ala349Thr)
|
|
|
NM_198904.4(GABRG2):c.1053G>A (p.Val351=)
|
|
|
NM_198904.4(GABRG2):c.107+1G>A
|
|
|
NM_198904.4(GABRG2):c.1087del (p.Arg363fs)
|
|
|
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)
|
|
|
NM_198904.4(GABRG2):c.1115A>G (p.Lys372Arg)
|
|
|
NM_198904.4(GABRG2):c.1158T>C (p.Pro386=)
|
|
|
NM_198904.4(GABRG2):c.1179A>T (p.Arg393Ser)
|
|
|
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val)
|
|
|
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile)
|
|
|
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs)
|
|
|
NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del)
|
|
|
NM_198904.4(GABRG2):c.1277del (p.Phe426fs)
|
|
|
NM_198904.4(GABRG2):c.1305A>G (p.Gly435=)
|
|
|
NM_198904.4(GABRG2):c.1331T>C (p.Ile444Thr)
|
|
|
NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=)
|
|
|
NM_198904.4(GABRG2):c.1362G>C (p.Arg454=)
|
|
|
NM_198904.4(GABRG2):c.1365C>A (p.Ile455=)
|
|
|
NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu)
|
|
|
NM_198904.4(GABRG2):c.140A>G (p.Glu47Gly)
|
|
|
NM_198904.4(GABRG2):c.1413C>T (p.Ser471=)
|
|
|
NM_198904.4(GABRG2):c.143A>G (p.Asp48Gly)
|
rs1581342183
|
|
NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser)
|
rs1581342223
|
|
NM_198904.4(GABRG2):c.184C>G (p.Pro62Ala)
|
|
|
NM_198904.4(GABRG2):c.185C>G (p.Pro62Arg)
|
|
|
NM_198904.4(GABRG2):c.196G>A (p.Val66Ile)
|
|
|
NM_198904.4(GABRG2):c.243T>C (p.Leu81=)
|
|
|
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu)
|
|
|
NM_198904.4(GABRG2):c.259+1G>C
|
|
|
NM_198904.4(GABRG2):c.259+2T>A
|
|
|
NM_198904.4(GABRG2):c.260-8C>G
|
|
|
NM_198904.4(GABRG2):c.270G>A (p.Thr90=)
|
|
|
NM_198904.4(GABRG2):c.28G>A (p.Gly10Arg)
|
|
|
NM_198904.4(GABRG2):c.303T>C (p.Ile101=)
|
|
|
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser)
|
|
|
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)
|
|
|
NM_198904.4(GABRG2):c.394A>G (p.Ile132Val)
|
|
|
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe)
|
|
|
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe)
|
|
|
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu)
|
|
|
NM_198904.4(GABRG2):c.429dup (p.Lys144fs)
|
|
|
NM_198904.4(GABRG2):c.432A>C (p.Lys144Asn)
|
|
|
NM_198904.4(GABRG2):c.447C>A (p.Asp149Glu)
|
|
|
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala)
|
|
|
NM_198904.4(GABRG2):c.505A>T (p.Met169Leu)
|
|
|
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)
|
|
|
NM_198904.4(GABRG2):c.549G>A (p.Arg183=)
|
|
|
NM_198904.4(GABRG2):c.552G>A (p.Leu184=)
|
|
|
NM_198904.4(GABRG2):c.567G>A (p.Glu189=)
|
|
|
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter)
|
|
|
NM_198904.4(GABRG2):c.573A>G (p.Gln191=)
|
|
|
NM_198904.4(GABRG2):c.631+4A>C
|
|
|
NM_198904.4(GABRG2):c.631+6T>C
|
|
|
NM_198904.4(GABRG2):c.632-10C>A
|
|
|
NM_198904.4(GABRG2):c.632-1283C>G
|
|
|
NM_198904.4(GABRG2):c.632-2A>T
|
|
|
NM_198904.4(GABRG2):c.632-5G>A
|
|
|
NM_198904.4(GABRG2):c.632-6C>T
|
|
|
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys)
|
|
|
NM_198904.4(GABRG2):c.644G>A (p.Arg215His)
|
|
|
NM_198904.4(GABRG2):c.650A>G (p.Glu217Gly)
|
|
|
NM_198904.4(GABRG2):c.697del (p.Arg233fs)
|
|
|
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe)
|
|
|
NM_198904.4(GABRG2):c.72G>C (p.Thr24=)
|
|
|
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter)
|
|
|
NM_198904.4(GABRG2):c.753A>C (p.Val251=)
|
|
|
NM_198904.4(GABRG2):c.759G>A (p.Lys253=)
|
|
|
NM_198904.4(GABRG2):c.75G>A (p.Val25=)
|
|
|
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile)
|
|
|
NM_198904.4(GABRG2):c.765T>G (p.Thr255=)
|
|
|
NM_198904.4(GABRG2):c.769+1G>A
|
|
|
NM_198904.4(GABRG2):c.769+5G>C
|
|
|
NM_198904.4(GABRG2):c.769+9C>A
|
|
|
NM_198904.4(GABRG2):c.770-12G>A
|
|
|
NM_198904.4(GABRG2):c.787T>C (p.Ser263Pro)
|
|
|
NM_198904.4(GABRG2):c.79A>G (p.Ile27Val)
|
|
|
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile)
|
|
|
NM_198904.4(GABRG2):c.861C>T (p.Val287=)
|
|
|
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser)
|
|
|
NM_198904.4(GABRG2):c.890A>G (p.Asn297Ser)
|
|
|
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr)
|
|
|
NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp)
|
|
|
NM_198904.4(GABRG2):c.926T>C (p.Ile309Thr)
|
|
|
NM_198904.4(GABRG2):c.93G>A (p.Leu31=)
|
|
|
NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser)
|
|
|
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter)
|
|
|
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr)
|
|
|
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp)
|
|
|
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly)
|
|
|
NM_198904.4(GABRG2):c.972A>G (p.Lys324=)
|
|
|
NM_198904.4(GABRG2):c.981C>G (p.Pro327=)
|
|
|
NM_198904.4(GABRG2):c.987C>A (p.Val329=)
|
|
|
NM_198904.4(GABRG2):c.996C>T (p.Val332=)
|
|
|
NM_198904.4(GABRG2):c.999A>T (p.Thr333=)
|
|