NM_000368.5(TSC1):c.738-3259C>T
|
rs4367688
|
0.41783
|
NM_000368.5(TSC1):c.210+290T>C
|
rs10901223
|
0.40071
|
NM_000368.5(TSC1):c.2625+68G>A
|
rs1076160
|
0.37310
|
NM_000368.5(TSC1):c.2625+572A>G
|
rs2284902
|
0.20090
|
NM_000368.5(TSC1):c.2503-117G>T
|
rs7020438
|
0.20085
|
NM_000368.5(TSC1):c.2392-35T>C
|
rs11243931
|
0.20073
|
NM_000368.5(TSC1):c.2041+268A>G
|
rs12345576
|
0.20038
|
NM_000368.5(TSC1):c.2626-117G>A
|
rs12350276
|
0.19706
|
NM_000368.5(TSC1):c.1264-191dup
|
rs35494652
|
0.16060
|
NM_000368.5(TSC1):c.1439-37C>T
|
rs10901220
|
0.16021
|
NM_000368.5(TSC1):c.1333+209C>T
|
rs7872860
|
0.16018
|
NM_000368.5(TSC1):c.1438+92G>T
|
rs7870151
|
0.16012
|
NM_000368.5(TSC1):c.1439-183C>G
|
rs10901221
|
0.15999
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_000368.5(TSC1):c.1142-33A>G
|
rs6597586
|
0.15388
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000368.5(TSC1):c.2502+131C>T
|
rs7020175
|
0.09439
|
NM_000368.5(TSC1):c.1264-211G>A
|
rs10901222
|
0.09433
|
NM_000368.5(TSC1):c.1334-55C>G
|
rs7872606
|
0.09429
|
NM_000368.5(TSC1):c.2208+211G>A
|
rs10901219
|
0.09428
|
NM_000368.5(TSC1):c.107-148A>C
|
rs10901224
|
0.09401
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_000368.5(TSC1):c.2502+51A>G
|
rs75802666
|
0.04894
|
NM_000368.5(TSC1):c.2208+171A>G
|
rs2519757
|
0.04598
|
NM_000368.5(TSC1):c.737+142T>G
|
rs17408598
|
0.03973
|
NM_000368.5(TSC1):c.*376C>T
|
rs114064768
|
0.02541
|
NM_000368.5(TSC1):c.2976-43G>C
|
rs7853849
|
0.02474
|
NM_000368.5(TSC1):c.2975+101A>G
|
rs112528984
|
0.02441
|
NM_000368.5(TSC1):c.1334-174T>C
|
rs117147322
|
0.02265
|
NM_000368.5(TSC1):c.1263+315C>T
|
rs142311240
|
0.01869
|
NC_000009.12:g.132944745G>T
|
rs144677866
|
0.01771
|
NM_000368.5(TSC1):c.737+283A>G
|
rs117521590
|
0.01556
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000368.5(TSC1):c.2975+127G>T
|
rs113469460
|
0.01246
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_000368.5(TSC1):c.211-157G>A
|
rs150221955
|
0.01035
|
NM_000368.5(TSC1):c.1264-184T>C
|
rs45467998
|
0.00924
|
NM_000368.5(TSC1):c.2392-222C>T
|
rs141011030
|
0.00908
|
NM_000368.5(TSC1):c.2391+34G>A
|
rs116518821
|
0.00903
|
NM_000368.5(TSC1):c.1333+187A>G
|
rs114683952
|
0.00894
|
NM_000368.5(TSC1):c.738-3141A>C
|
rs111801465
|
0.00864
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_000368.5(TSC1):c.210+33G>A
|
rs118203350
|
0.00695
|
NM_000368.5(TSC1):c.508+99T>C
|
rs138277642
|
0.00645
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_000368.5(TSC1):c.211-286T>C
|
rs9942877
|
0.00462
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_000368.5(TSC1):c.1997+133A>G
|
rs190614659
|
0.00444
|
NM_000368.5(TSC1):c.2625+75A>T
|
rs73660291
|
0.00406
|
NC_000009.12:g.132944713A>G
|
rs115132103
|
0.00404
|
NM_000368.5(TSC1):c.107-113_107-112del
|
rs527611975
|
0.00401
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_000368.5(TSC1):c.106+187G>T
|
rs79398892
|
0.00270
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000368.5(TSC1):c.1263+88A>G
|
rs118203507
|
0.00250
|
NC_000009.12:g.132944772C>T
|
rs538491949
|
0.00202
|
NM_000368.5(TSC1):c.*2109C>T
|
rs73552808
|
0.00200
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000368.5(TSC1):c.106+15A>G
|
rs80258442
|
0.00187
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_000368.5(TSC1):c.*2904G>T
|
rs559978998
|
0.00163
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_000368.5(TSC1):c.-143-17A>G
|
rs116631378
|
0.00127
|
NM_000368.5(TSC1):c.*3830C>T
|
rs544931538
|
0.00120
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_000368.5(TSC1):c.876C>T (p.Val292=)
|
rs116756594
|
0.00104
|
NM_000368.5(TSC1):c.552G>C (p.Val184=)
|
rs118203397
|
0.00079
|
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)
|
rs118203543
|
0.00070
|
NM_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
NM_000368.5(TSC1):c.*358C>T
|
rs147729052
|
0.00066
|
NM_000368.5(TSC1):c.*279T>G
|
rs554637460
|
0.00061
|
NM_000368.5(TSC1):c.*4680G>T
|
rs747969932
|
0.00055
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)
|
rs146578402
|
0.00040
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000368.5(TSC1):c.*3988G>A
|
rs563835484
|
0.00034
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.2626-4T>C
|
rs777386691
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000368.5(TSC1):c.1264-12T>C
|
rs118203508
|
0.00025
|
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)
|
rs118203723
|
0.00025
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
NM_000368.5(TSC1):c.1677C>T (p.Cys559=)
|
rs368317116
|
0.00021
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000368.5(TSC1):c.249C>T (p.Ala83=)
|
rs145783693
|
0.00013
|
NM_000368.5(TSC1):c.2502+18A>C
|
rs200908079
|
0.00013
|
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)
|
rs142954164
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala)
|
rs893232039
|
0.00012
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00011
|
NM_000368.5(TSC1):c.210+18A>G
|
rs118203349
|
0.00011
|
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)
|
rs118203692
|
0.00011
|
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)
|
rs756514375
|
0.00010
|
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)
|
rs148931779
|
0.00010
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)
|
rs765695557
|
0.00008
|
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)
|
rs549467159
|
0.00008
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
NM_000368.5(TSC1):c.851G>A (p.Arg284His)
|
rs151309813
|
0.00008
|
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)
|
rs781312535
|
0.00007
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)
|
rs751247705
|
0.00006
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
NM_000368.5(TSC1):c.513C>T (p.His171=)
|
rs377196837
|
0.00006
|
NM_000368.5(TSC1):c.625A>G (p.Met209Val)
|
rs754980229
|
0.00006
|
NM_000368.5(TSC1):c.-36C>T
|
rs772626361
|
0.00005
|
NM_000368.5(TSC1):c.1110A>T (p.Ser370=)
|
rs371648887
|
0.00005
|
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)
|
rs372583166
|
0.00005
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)
|
rs200514807
|
0.00005
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00005
|
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=)
|
rs201165286
|
0.00005
|
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)
|
rs751126355
|
0.00005
|
NM_000368.5(TSC1):c.479G>A (p.Arg160His)
|
rs749979841
|
0.00005
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_000368.5(TSC1):c.73G>A (p.Val25Met)
|
rs1230244328
|
0.00005
|
NM_000368.5(TSC1):c.853T>G (p.Phe285Val)
|
rs377076733
|
0.00005
|
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)
|
rs375144225
|
0.00005
|
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)
|
rs535868591
|
0.00005
|
NM_000368.5(TSC1):c.*2638C>T
|
rs373845353
|
0.00004
|
NM_000368.5(TSC1):c.110G>A (p.Arg37His)
|
rs750441497
|
0.00004
|
NM_000368.5(TSC1):c.1264-9T>C
|
rs1399728684
|
0.00004
|
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
NM_000368.5(TSC1):c.1884A>G (p.Leu628=)
|
rs1038140620
|
0.00004
|
NM_000368.5(TSC1):c.1974C>T (p.Asp658=)
|
rs118203608
|
0.00004
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)
|
rs149719514
|
0.00004
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)
|
rs759047948
|
0.00004
|
NM_000368.5(TSC1):c.-144G>A
|
rs796053468
|
0.00003
|
NM_000368.5(TSC1):c.-80-2A>G
|
rs587778003
|
0.00003
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
NM_000368.5(TSC1):c.1439-4T>C
|
rs762473323
|
0.00003
|
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser)
|
rs548002938
|
0.00003
|
NM_000368.5(TSC1):c.1878G>A (p.Glu626=)
|
rs753424167
|
0.00003
|
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)
|
rs939275328
|
0.00003
|
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)
|
rs1433723046
|
0.00003
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)
|
rs202121327
|
0.00003
|
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)
|
rs201192125
|
0.00003
|
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=)
|
rs761673589
|
0.00003
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
NM_000368.5(TSC1):c.663+35T>C
|
rs556038860
|
0.00003
|
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln)
|
rs755859330
|
0.00003
|
NM_000368.5(TSC1):c.840A>G (p.Gln280=)
|
rs1171852730
|
0.00003
|
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)
|
rs140544652
|
0.00003
|
NM_000368.5(TSC1):c.87T>C (p.Phe29=)
|
rs745384145
|
0.00003
|
NM_000368.5(TSC1):c.941C>T (p.Thr314Met)
|
rs373454700
|
0.00003
|
NM_000368.5(TSC1):c.942G>A (p.Thr314=)
|
rs144208203
|
0.00003
|
NM_000368.5(TSC1):c.-80-5C>T
|
rs1057523300
|
0.00002
|
NM_000368.5(TSC1):c.1020A>G (p.Glu340=)
|
rs760233114
|
0.00002
|
NM_000368.5(TSC1):c.1030-14T>A
|
rs180810228
|
0.00002
|
NM_000368.5(TSC1):c.111T>C (p.Arg37=)
|
rs966292723
|
0.00002
|
NM_000368.5(TSC1):c.1251A>G (p.Thr417=)
|
rs147127442
|
0.00002
|
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg)
|
rs878853959
|
0.00002
|
NM_000368.5(TSC1):c.126A>C (p.Val42=)
|
rs118203335
|
0.00002
|
NM_000368.5(TSC1):c.1273A>G (p.Met425Val)
|
rs753199284
|
0.00002
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser)
|
rs746304922
|
0.00002
|
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu)
|
rs750512029
|
0.00002
|
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly)
|
rs377185303
|
0.00002
|
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile)
|
rs779584449
|
0.00002
|
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)
|
rs202241429
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00002
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
NM_000368.5(TSC1):c.2424G>A (p.Ala808=)
|
rs200651872
|
0.00002
|
NM_000368.5(TSC1):c.2503-20T>G
|
rs539758749
|
0.00002
|
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)
|
rs747602915
|
0.00002
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)
|
rs112066743
|
0.00002
|
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu)
|
rs1442514678
|
0.00002
|
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=)
|
rs1244090738
|
0.00002
|
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala)
|
rs745871522
|
0.00002
|
NM_000368.5(TSC1):c.375C>T (p.Asp125=)
|
rs560863078
|
0.00002
|
NM_000368.5(TSC1):c.379G>A (p.Val127Ile)
|
rs372215435
|
0.00002
|
NM_000368.5(TSC1):c.542A>T (p.His181Leu)
|
rs397515294
|
0.00002
|
NM_000368.5(TSC1):c.597C>T (p.Phe199=)
|
rs202242304
|
0.00002
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)
|
rs752290177
|
0.00002
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00002
|
NM_000368.5(TSC1):c.-156G>A
|
rs1219710576
|
0.00001
|
NM_000368.5(TSC1):c.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
NM_000368.5(TSC1):c.1038T>C (p.Leu346=)
|
rs753360364
|
0.00001
|
NM_000368.5(TSC1):c.1050T>C (p.Ser350=)
|
rs150777389
|
0.00001
|
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala)
|
rs201738258
|
0.00001
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)
|
rs763915012
|
0.00001
|
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys)
|
rs1309560054
|
0.00001
|
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser)
|
rs1064796512
|
0.00001
|
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys)
|
rs143502728
|
0.00001
|
NM_000368.5(TSC1):c.1219G>A (p.Val407Met)
|
rs769331772
|
0.00001
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla)
|
rs1203057835
|
0.00001
|
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
|
rs199800297
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)
|
rs587778722
|
0.00001
|
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del)
|
rs796053469
|
0.00001
|
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)
|
rs371908551
|
0.00001
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)
|
rs765149885
|
0.00001
|
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu)
|
rs770570830
|
0.00001
|
NM_000368.5(TSC1):c.1716C>T (p.Cys572=)
|
rs752202276
|
0.00001
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)
|
rs775869914
|
0.00001
|
NM_000368.5(TSC1):c.1776G>A (p.Thr592=)
|
rs118203580
|
0.00001
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg)
|
rs761959210
|
0.00001
|
NM_000368.5(TSC1):c.1800G>C (p.Gln600His)
|
rs1254353359
|
0.00001
|
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)
|
rs1057522817
|
0.00001
|
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)
|
rs754401816
|
0.00001
|
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)
|
rs1485955306
|
0.00001
|
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala)
|
rs771341361
|
0.00001
|
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
|
rs748901883
|
0.00001
|
NM_000368.5(TSC1):c.2064C>T (p.Ile688=)
|
rs878853963
|
0.00001
|
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)
|
rs200827913
|
0.00001
|
NM_000368.5(TSC1):c.211-11T>C
|
rs1258774658
|
0.00001
|
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)
|
rs760004541
|
0.00001
|
NM_000368.5(TSC1):c.2392-16A>G
|
rs758374143
|
0.00001
|
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala)
|
rs1269896419
|
0.00001
|
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)
|
rs751128287
|
0.00001
|
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)
|
rs118203699
|
0.00001
|
NM_000368.5(TSC1):c.2503-21T>C
|
rs118203703
|
0.00001
|
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)
|
rs547498792
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000368.5(TSC1):c.2658A>G (p.Lys886=)
|
rs368212910
|
0.00001
|
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg)
|
rs1212768461
|
0.00001
|
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)
|
rs1060503217
|
0.00001
|
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys)
|
rs762213436
|
0.00001
|
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe)
|
rs1399717425
|
0.00001
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
NM_000368.5(TSC1):c.2964A>G (p.Ala988=)
|
rs1057520482
|
0.00001
|
NM_000368.5(TSC1):c.2976-2A>G
|
rs1588288463
|
0.00001
|
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)
|
rs780224196
|
0.00001
|
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)
|
rs371879917
|
0.00001
|
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)
|
rs1242948205
|
0.00001
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)
|
rs587778726
|
0.00001
|
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met)
|
rs753388676
|
0.00001
|
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)
|
rs878853966
|
0.00001
|
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)
|
rs776694051
|
0.00001
|
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)
|
rs779599439
|
0.00001
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser)
|
rs748669519
|
0.00001
|
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)
|
rs118203752
|
0.00001
|
NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn)
|
rs764140399
|
0.00001
|
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)
|
rs775420987
|
0.00001
|
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=)
|
rs1157060310
|
0.00001
|
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=)
|
rs763931959
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.376G>A (p.Val126Ile)
|
rs397514843
|
0.00001
|
NM_000368.5(TSC1):c.378C>T (p.Val126=)
|
rs373173550
|
0.00001
|
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)
|
rs118203381
|
0.00001
|
NM_000368.5(TSC1):c.418C>G (p.Leu140Val)
|
rs1554819915
|
0.00001
|
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly)
|
rs1846674570
|
0.00001
|
NM_000368.5(TSC1):c.45C>T (p.Asp15=)
|
rs1457262106
|
0.00001
|
NM_000368.5(TSC1):c.514G>A (p.Val172Met)
|
rs952813051
|
0.00001
|
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)
|
rs777484049
|
0.00001
|
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys)
|
rs1060503209
|
0.00001
|
NM_000368.5(TSC1):c.555C>T (p.Tyr185=)
|
rs118203398
|
0.00001
|
NM_000368.5(TSC1):c.61G>T (p.Val21Leu)
|
rs1392596033
|
0.00001
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
NM_000368.5(TSC1):c.651A>G (p.Glu217=)
|
rs766250769
|
0.00001
|
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)
|
rs984306144
|
0.00001
|
NM_000368.5(TSC1):c.72C>T (p.Asp24=)
|
rs376527838
|
0.00001
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)
|
rs118203450
|
0.00001
|
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg)
|
rs371225009
|
0.00001
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro)
|
rs774009225
|
0.00001
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)
|
rs1415705359
|
0.00001
|
GRCh37/hg19 9q34.13(chr9:135800974-135801126)x1
|
|
|
NM_000368.4(TSC1):c.914-88_914-58T(27_30)
|
rs11364856
|
|
NM_000368.5(TSC1):c.*1355C>A
|
rs749683153
|
|
NM_000368.5(TSC1):c.*2437G>A
|
|
|
NM_000368.5(TSC1):c.*280T>C
|
rs2131582192
|
|
NM_000368.5(TSC1):c.*289del
|
rs11323835
|
|
NM_000368.5(TSC1):c.*295C>A
|
rs113549339
|
|
NM_000368.5(TSC1):c.*295C>G
|
rs113549339
|
|
NM_000368.5(TSC1):c.*3833C>A
|
|
|
NM_000368.5(TSC1):c.-144+134G>T
|
rs375418118
|
|
NM_000368.5(TSC1):c.-144+9dup
|
rs896447282
|
|
NM_000368.5(TSC1):c.-5A>G
|
rs1323766758
|
|
NM_000368.5(TSC1):c.1029+2T>C
|
rs1554817336
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.1036C>T (p.Leu346Phe)
|
rs2131964723
|
|
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)
|
rs118203491
|
|
NM_000368.5(TSC1):c.1059_1060insTAC (p.Cys353_Gly354insTyr)
|
rs2131962787
|
|
NM_000368.5(TSC1):c.1063A>G (p.Met355Val)
|
rs1302832406
|
|
NM_000368.5(TSC1):c.107-1G>A
|
rs1064793494
|
|
NM_000368.5(TSC1):c.107-7G>A
|
rs775150962
|
|
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs)
|
rs118203494
|
|
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser)
|
rs1309560054
|
|
NM_000368.5(TSC1):c.10C>T (p.Gln4Ter)
|
rs753838459
|
|
NM_000368.5(TSC1):c.1109C>G (p.Ser370Ter)
|
|
|
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu)
|
rs796053457
|
|
NM_000368.5(TSC1):c.111del (p.Gly38fs)
|
rs1846929742
|
|
NM_000368.5(TSC1):c.1125dup (p.Val376fs)
|
rs1554817227
|
|
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu)
|
rs1845926660
|
|
NM_000368.5(TSC1):c.1141+1G>T
|
rs397514819
|
|
NM_000368.5(TSC1):c.1152del (p.Gly385fs)
|
rs118203501
|
|
NM_000368.5(TSC1):c.1157del (p.Thr386fs)
|
rs1554817164
|
|
NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs)
|
rs1064793844
|
|
NM_000368.5(TSC1):c.1165G>T (p.Gly389Ter)
|
rs886041524
|
|
NM_000368.5(TSC1):c.116_119dup (p.Met40fs)
|
rs1588359822
|
|
NM_000368.5(TSC1):c.1192del (p.Ala398fs)
|
rs2131943928
|
|
NM_000368.5(TSC1):c.1194C>G (p.Ala398=)
|
rs1060504861
|
|
NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs)
|
rs1554817140
|
|
NM_000368.5(TSC1):c.1209G>T (p.Ser403=)
|
rs141184479
|
|
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val)
|
rs1554817130
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr)
|
rs2131939930
|
|
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu)
|
rs1845897946
|
|
NM_000368.5(TSC1):c.1237del (p.Gln413fs)
|
rs1588321344
|
|
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)
|
rs77464996
|
|
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu)
|
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1263+106G>A
|
rs113308027
|
|
NM_000368.5(TSC1):c.1263+248_1263+251dup
|
rs10712193
|
|
NM_000368.5(TSC1):c.1263+248dup
|
rs10712193
|
|
NM_000368.5(TSC1):c.1263+269del
|
rs10712193
|
|
NM_000368.5(TSC1):c.1263+4C>T
|
rs1554817077
|
|
NM_000368.5(TSC1):c.1264-1G>A
|
rs1554816432
|
|
NM_000368.5(TSC1):c.1298A>G (p.His433Arg)
|
rs1554816403
|
|
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs)
|
rs1064795285
|
|
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg)
|
rs760470520
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala)
|
rs1588313030
|
|
NM_000368.5(TSC1):c.134T>A (p.Leu45Ter)
|
rs1554820662
|
|
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)
|
rs1554820662
|
|
NM_000368.5(TSC1):c.1350C>T (p.Ser450=)
|
rs773780814
|
|
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe)
|
rs1271797824
|
|
NM_000368.5(TSC1):c.1367dup (p.Ser457fs)
|
rs1554816245
|
|
NM_000368.5(TSC1):c.1388del (p.Phe462_Leu463insTer)
|
rs1064796237
|
|
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys)
|
rs1845695519
|
|
NM_000368.5(TSC1):c.1410A>G (p.Glu470=)
|
rs2131863384
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1438+164_1438+167dup
|
rs11349075
|
|
NM_000368.5(TSC1):c.1438+164dup
|
rs11349075
|
|
NM_000368.5(TSC1):c.1438+182del
|
rs11349075
|
|
NM_000368.5(TSC1):c.1438+270T>C
|
rs143422206
|
|
NM_000368.5(TSC1):c.1439-1G>A
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-209G>C
|
rs17149968
|
|
NM_000368.5(TSC1):c.1441del (p.Ala481fs)
|
rs796053466
|
|
NM_000368.5(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer)
|
rs1064793693
|
|
NM_000368.5(TSC1):c.1451G>C (p.Arg484Thr)
|
rs2131850238
|
|
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val)
|
rs2131850010
|
|
NM_000368.5(TSC1):c.1456C>G (p.Leu486Val)
|
rs2131849950
|
|
NM_000368.5(TSC1):c.1462G>C (p.Glu488Gln)
|
rs118203533
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1509dup (p.Asp504Ter)
|
rs796053470
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1533dup (p.Leu512fs)
|
rs1554816029
|
|
NM_000368.5(TSC1):c.1541_1544del (p.Gly514fs)
|
rs2131843217
|
|
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp)
|
rs1243886871
|
|
NM_000368.5(TSC1):c.1551G>T (p.Arg517=)
|
rs2131842617
|
|
NM_000368.5(TSC1):c.1563G>A (p.Ser521=)
|
rs1554816005
|
|
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter)
|
rs2131841336
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys)
|
rs796053458
|
|
NM_000368.5(TSC1):c.1610A>G (p.His537Arg)
|
rs1845643427
|
|
NM_000368.5(TSC1):c.1632G>T (p.Gly544=)
|
rs1588310249
|
|
NM_000368.5(TSC1):c.1670T>C (p.Leu557Pro)
|
rs1064796040
|
|
NM_000368.5(TSC1):c.1675del (p.Cys559fs)
|
|
|
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1696_1697insTC (p.Pro566fs)
|
rs1064794760
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1702_1703del (p.Gly568fs)
|
rs397514777
|
|
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
|
rs118203564
|
|
NM_000368.5(TSC1):c.1713del (p.Glu571fs)
|
rs796053471
|
|
NM_000368.5(TSC1):c.171A>G (p.Ala57=)
|
rs1060504853
|
|
NM_000368.5(TSC1):c.1727del (p.Leu576fs)
|
rs886041684
|
|
NM_000368.5(TSC1):c.1732A>G (p.Thr578Ala)
|
|
|
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser)
|
rs766367103
|
|
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)
|
rs1429666367
|
|
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly)
|
rs118203581
|
|
NM_000368.5(TSC1):c.1788del (p.Phe596fs)
|
rs118203582
|
|
NM_000368.5(TSC1):c.1808_1811dup (p.Asp605fs)
|
rs2131821838
|
|
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn)
|
rs1588309025
|
|
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)
|
rs1554815795
|
|
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)
|
rs118203345
|
|
NM_000368.5(TSC1):c.1833A>G (p.Ala611=)
|
rs1240702401
|
|
NM_000368.5(TSC1):c.1866G>T (p.Arg622Ser)
|
|
|
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)
|
rs886038287
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
|
|
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg)
|
rs1471587230
|
|
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu)
|
rs1554815746
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.192G>T (p.Leu64Phe)
|
rs1554820635
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.1965_1984dup (p.Lys662fs)
|
rs2131807821
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1986G>T (p.Lys662Asn)
|
|
|
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter)
|
rs886041538
|
|
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val)
|
rs1845605103
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+5G>C
|
rs1554815679
|
|
NM_000368.5(TSC1):c.1998-172_1998-166del
|
rs3216877
|
|
NM_000368.5(TSC1):c.1998-2A>C
|
rs1057518217
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
NM_000368.5(TSC1):c.2001_2004del (p.Leu667fs)
|
rs1554815476
|
|
NM_000368.5(TSC1):c.2023del (p.Asp675fs)
|
rs118203620
|
|
NM_000368.5(TSC1):c.2033A>G (p.His678Arg)
|
rs745413532
|
|
NM_000368.5(TSC1):c.2041+5del
|
rs1564479424
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe)
|
rs1554815343
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2074del (p.Arg692fs)
|
|
|
NM_000368.5(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer)
|
rs886042012
|
|
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2082del (p.Gln694fs)
|
rs118203632
|
|
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile)
|
rs1845506304
|
|
NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter)
|
rs1845504382
|
|
NM_000368.5(TSC1):c.2103G>A (p.Gln701=)
|
rs118203639
|
|
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs)
|
rs1057517842
|
|
NM_000368.5(TSC1):c.211-11dup
|
rs397514775
|
|
NM_000368.5(TSC1):c.211-7T>G
|
rs1554820321
|
|
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)
|
rs752054698
|
|
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
|
rs118203645
|
|
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)
|
rs118203646
|
|
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)
|
rs397514874
|
|
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp)
|
rs1564478519
|
|
NM_000368.5(TSC1):c.2145del (p.Asn716fs)
|
rs118203650
|
|
NM_000368.5(TSC1):c.2152_2153insAGCC (p.Arg718fs)
|
rs1588303969
|
|
NM_000368.5(TSC1):c.2156del (p.Leu719fs)
|
rs886041456
|
|
NM_000368.5(TSC1):c.2161del (p.Arg721fs)
|
rs1588303890
|
|
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr)
|
rs796053459
|
|
NM_000368.5(TSC1):c.2198A>G (p.Asn733Ser)
|
rs1564478277
|
|
NM_000368.5(TSC1):c.21C>T (p.Val7=)
|
rs145987906
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val)
|
rs1350928783
|
|
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)
|
rs1554815054
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2235G>A (p.Lys745=)
|
rs753265422
|
|
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)
|
rs118203662
|
|
NM_000368.5(TSC1):c.2268dup (p.Glu757fs)
|
|
|
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
|
rs397514783
|
|
NM_000368.5(TSC1):c.2278_2291del (p.Arg760fs)
|
|
|
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2292_2293insT (p.Gln765fs)
|
rs1064794504
|
|
NM_000368.5(TSC1):c.2293C>G (p.Gln765Glu)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys)
|
rs1588301564
|
|
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)
|
rs1564477162
|
|
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys)
|
rs1845445479
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)
|
rs796053460
|
|
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter)
|
rs781371665
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.2391+12A>G
|
rs2131727338
|
|
NM_000368.5(TSC1):c.2392-74_2392-1del
|
|
|
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met)
|
rs1331635112
|
|
NM_000368.5(TSC1):c.239_240del (p.Val80fs)
|
rs2132237554
|
|
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)
|
rs118203687
|
|
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp)
|
rs1845380748
|
|
NM_000368.5(TSC1):c.2421T>A (p.Ile807=)
|
rs754248661
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
NM_000368.5(TSC1):c.2448G>A (p.Lys816=)
|
rs1588299142
|
|
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser)
|
rs1554814652
|
|
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)
|
rs1554814639
|
|
NM_000368.5(TSC1):c.2477_2480dup (p.Leu828fs)
|
rs2131704033
|
|
NM_000368.5(TSC1):c.2487_2490del (p.Ser829fs)
|
rs886039735
|
|
NM_000368.5(TSC1):c.2497dup (p.Gln833fs)
|
rs2131702709
|
|
NM_000368.5(TSC1):c.2502+2T>A
|
|
|
NM_000368.5(TSC1):c.2503-11T>A
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-11T>G
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-139dup
|
rs201114032
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg)
|
rs786203259
|
|
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs)
|
rs794727320
|
|
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)
|
rs1447417010
|
|
NM_000368.5(TSC1):c.2569del (p.Glu857fs)
|
rs118203712
|
|
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys)
|
rs1463772907
|
|
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)
|
rs886039662
|
|
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn)
|
rs1845327520
|
|
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)
|
rs397514776
|
|
NM_000368.5(TSC1):c.261dup (p.Ser88fs)
|
rs1588355628
|
|
NM_000368.5(TSC1):c.2625+367A>G
|
rs1564474542
|
|
NM_000368.5(TSC1):c.2625+373dup
|
rs36000704
|
|
NM_000368.5(TSC1):c.2625G>C (p.Lys875Asn)
|
rs777437357
|
|
NM_000368.5(TSC1):c.2626-167G>A
|
rs12350315
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-6_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2632G>T (p.Glu878Ter)
|
rs1290215290
|
|
NM_000368.5(TSC1):c.2635A>C (p.Met879Leu)
|
rs778416424
|
|
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
|
rs778416424
|
|
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile)
|
rs1218889799
|
|
NM_000368.5(TSC1):c.2640del (p.Met880fs)
|
rs1588291118
|
|
NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter)
|
rs1057520444
|
|
NM_000368.5(TSC1):c.2656A>T (p.Lys886Ter)
|
rs1554813568
|
|
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser)
|
rs1060503203
|
|
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)
|
rs118203727
|
|
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.2699_2700insAA (p.Leu902fs)
|
rs2131635932
|
|
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)
|
rs118203732
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.2748G>C (p.Leu916=)
|
rs1588290553
|
|
NM_000368.5(TSC1):c.2771del (p.Leu924fs)
|
rs1845139251
|
|
NM_000368.5(TSC1):c.2785T>C (p.Tyr929His)
|
rs1845137965
|
|
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=)
|
rs753980869
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg)
|
rs2131630505
|
|
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys)
|
rs989183765
|
|
NM_000368.5(TSC1):c.2866C>T (p.Gln956Ter)
|
rs1554813331
|
|
NM_000368.5(TSC1):c.2873T>G (p.Phe958Cys)
|
rs2131626774
|
|
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val)
|
rs1554813302
|
|
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)
|
rs796053448
|
|
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly)
|
rs2131623702
|
|
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1])
|
rs767902029
|
|
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val)
|
rs1554813219
|
|
NM_000368.5(TSC1):c.2972_2975del (p.Glu991fs)
|
|
|
NM_000368.5(TSC1):c.2975+1G>A
|
|
|
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)
|
rs144314195
|
|
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val)
|
rs1845089126
|
|
NM_000368.5(TSC1):c.3035C>G (p.Ser1012Cys)
|
|
|
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys)
|
rs759047948
|
|
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro)
|
rs796053453
|
|
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)
|
rs1380396209
|
|
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=)
|
rs2131612277
|
|
NM_000368.5(TSC1):c.3063del (p.Arg1022fs)
|
rs2131612319
|
|
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)
|
rs796053450
|
|
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)
|
rs774196458
|
|
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)
|
rs148931779
|
|
NM_000368.5(TSC1):c.3129_3130dup (p.Glu1044fs)
|
rs1588287451
|
|
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)
|
rs1588287475
|
|
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)
|
rs747162992
|
|
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val)
|
rs1588287204
|
|
NM_000368.5(TSC1):c.3199_3211delinsGCCAGCATCCCCACCACTGTGGG (p.Met1067fs)
|
|
|
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr)
|
rs1167362899
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro)
|
rs796053463
|
|
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)
|
rs397514774
|
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
|
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser)
|
rs1554812687
|
|
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg)
|
rs876660132
|
|
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)
|
rs1263464680
|
|
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe)
|
rs796053467
|
|
NM_000368.5(TSC1):c.3375G>C (p.Leu1125Phe)
|
|
|
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg)
|
rs1588286359
|
|
NM_000368.5(TSC1):c.3394C>A (p.Pro1132Thr)
|
|
|
NM_000368.5(TSC1):c.3403C>G (p.Leu1135Val)
|
rs749612772
|
|
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser)
|
rs2131589157
|
|
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His)
|
rs756449737
|
|
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln)
|
rs756737864
|
|
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del)
|
rs1846809072
|
|
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)
|
rs759431801
|
|
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)
|
rs1554812543
|
|
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr)
|
rs2131585152
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
NM_000368.5(TSC1):c.363+3_363+18del
|
rs1554820251
|
|
NM_000368.5(TSC1):c.363+667A>T
|
rs1846769659
|
|
NM_000368.5(TSC1):c.365T>C (p.Met122Thr)
|
rs796053454
|
|
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly)
|
|
|
NM_000368.5(TSC1):c.425T>C (p.Met142Thr)
|
rs886042190
|
|
NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs)
|
rs1554819900
|
|
NM_000368.5(TSC1):c.456del (p.Asp153fs)
|
rs1554819896
|
|
NM_000368.5(TSC1):c.469A>G (p.Ile157Val)
|
rs1846673273
|
|
NM_000368.5(TSC1):c.470T>G (p.Ile157Ser)
|
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter)
|
rs1846671628
|
|
NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)
|
rs118203387
|
|
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)
|
rs1554819870
|
|
NM_000368.5(TSC1):c.508+1G>T
|
rs118203390
|
|
NM_000368.5(TSC1):c.508+3A>G
|
rs1554819862
|
|
NM_000368.5(TSC1):c.514G>C (p.Val172Leu)
|
rs952813051
|
|
NM_000368.5(TSC1):c.517G>A (p.Ala173Thr)
|
|
|
NM_000368.5(TSC1):c.541C>T (p.His181Tyr)
|
rs1057524690
|
|
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)
|
rs940292214
|
|
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter)
|
rs118203398
|
|
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)
|
rs118203402
|
|
NM_000368.5(TSC1):c.572T>C (p.Leu191Pro)
|
rs118203403
|
|
NM_000368.5(TSC1):c.587del (p.Pro196fs)
|
rs796053464
|
|
NM_000368.5(TSC1):c.590_594del (p.Cys197fs)
|
rs1064796162
|
|
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp)
|
rs2132295150
|
|
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala)
|
|
|
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
|
rs118203417
|
|
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)
|
rs1554819509
|
|
NM_000368.5(TSC1):c.656T>G (p.Val219Gly)
|
|
|
NM_000368.5(TSC1):c.661A>T (p.Lys221Ter)
|
rs1564497826
|
|
NM_000368.5(TSC1):c.663+1G>A
|
rs118203419
|
|
NM_000368.5(TSC1):c.663G>A (p.Lys221=)
|
rs868715706
|
|
NM_000368.5(TSC1):c.664-10A>C
|
rs1588345946
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.708A>G (p.Gly236=)
|
rs2132135313
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+1G>T
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.737_737+1dup
|
rs118203435
|
|
NM_000368.5(TSC1):c.738-1252G>A
|
|
|
NM_000368.5(TSC1):c.738-2A>T
|
rs118203440
|
|
NM_000368.5(TSC1):c.738G>A (p.Arg246=)
|
rs118203441
|
|
NM_000368.5(TSC1):c.73_85dup (p.Phe29fs)
|
|
|
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)
|
rs118203445
|
|
NM_000368.5(TSC1):c.74dup (p.Thr26fs)
|
rs886041959
|
|
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter)
|
rs1554817691
|
|
NM_000368.5(TSC1):c.770T>C (p.Ile257Thr)
|
rs745640752
|
|
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)
|
rs118203450
|
|
NM_000368.5(TSC1):c.785T>C (p.Ile262Thr)
|
rs2132003570
|
|
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu)
|
rs1554817662
|
|
NM_000368.5(TSC1):c.801A>G (p.Thr267=)
|
rs2132002475
|
|
NM_000368.5(TSC1):c.809C>A (p.Ser270Ter)
|
rs878853968
|
|
NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter)
|
rs118203452
|
|
NM_000368.5(TSC1):c.835C>T (p.His279Tyr)
|
rs1467020958
|
|
NM_000368.5(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs)
|
rs886041977
|
|
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser)
|
rs750890263
|
|
NM_000368.5(TSC1):c.889T>C (p.Tyr297His)
|
|
|
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr)
|
rs1846004547
|
|
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000368.5(TSC1):c.903dup (p.Asn302fs)
|
rs1846003590
|
|
NM_000368.5(TSC1):c.913+1G>A
|
rs118203470
|
|
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)
|
rs118203468
|
|
NM_000368.5(TSC1):c.914-2A>G
|
rs886041638
|
|
NM_000368.5(TSC1):c.914-58del
|
|
|
NM_000368.5(TSC1):c.914-59_914-58del
|
|
|
NM_000368.5(TSC1):c.914-62_914-58del
|
rs11364856
|
|
NM_000368.5(TSC1):c.914-63_914-58del
|
rs11364856
|
|
NM_000368.5(TSC1):c.915G>A (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.915G>C (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala)
|
rs1332186256
|
|
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)
|
rs766317920
|
|
NM_000368.5(TSC1):c.939C>T (p.Ser313=)
|
rs1588324777
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
|
rs118203474
|
|
NM_000368.5(TSC1):c.989_990insTT (p.Leu330_Ser331insTer)
|
rs118203478
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
Single allele
|
|
|
TSC1:c.1142-22_1142-21del
|
rs118203500
|
|