NM_000368.5(TSC1):c.*1275T>G
|
rs2809244
|
0.74384
|
NM_000368.5(TSC1):c.*3679G>A
|
rs1050700
|
0.68068
|
NM_000368.5(TSC1):c.*1322C>T
|
rs2809243
|
0.54889
|
NM_000368.5(TSC1):c.*1488C>T
|
rs739442
|
0.43524
|
NM_000368.5(TSC1):c.*1372T>G
|
rs58612431
|
0.26140
|
NM_000368.5(TSC1):c.2392-35T>C
|
rs11243931
|
0.20073
|
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.*1934A>G
|
rs10491534
|
0.14325
|
NM_000368.5(TSC1):c.*4437G>A
|
rs11553763
|
0.11942
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_000368.5(TSC1):c.*2651G>T
|
rs55660990
|
0.04112
|
NM_000368.5(TSC1):c.*913C>T
|
rs117425923
|
0.03547
|
NM_000368.5(TSC1):c.*1487C>T
|
rs79277527
|
0.02671
|
NM_000368.5(TSC1):c.*682C>T
|
rs75252898
|
0.02584
|
NM_000368.5(TSC1):c.*2558A>G
|
rs115516164
|
0.02571
|
NM_000368.5(TSC1):c.*376C>T
|
rs114064768
|
0.02541
|
NM_000368.5(TSC1):c.*107T>C
|
rs116917669
|
0.02353
|
NM_000368.5(TSC1):c.*1468C>T
|
rs72759433
|
0.01681
|
NM_000368.5(TSC1):c.*1785A>G
|
rs74362385
|
0.01398
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_000368.5(TSC1):c.*2418G>A
|
rs114415181
|
0.01175
|
NM_000368.5(TSC1):c.*4057G>A
|
rs17149898
|
0.01133
|
NM_000368.5(TSC1):c.*841C>T
|
rs149902841
|
0.01013
|
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.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_000368.5(TSC1):c.*2872G>A
|
rs2106345
|
0.00508
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_000368.5(TSC1):c.*3952A>G
|
rs114454155
|
0.00436
|
NM_000368.5(TSC1):c.*2461G>A
|
rs73552806
|
0.00396
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_000368.5(TSC1):c.-99C>T
|
rs114755636
|
0.00347
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_000368.5(TSC1):c.*3729G>T
|
rs543396172
|
0.00309
|
NM_000368.5(TSC1):c.*1902T>G
|
rs142038787
|
0.00285
|
NM_000368.5(TSC1):c.*2708G>C
|
rs150433809
|
0.00280
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000368.5(TSC1):c.2626-3_2626-2insTT
|
rs760737807
|
0.00242
|
NM_000368.5(TSC1):c.*2354A>G
|
rs114877981
|
0.00232
|
NM_000368.5(TSC1):c.*2109C>T
|
rs73552808
|
0.00200
|
NM_000368.5(TSC1):c.*1127C>T
|
rs139119563
|
0.00194
|
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.*2733A>G
|
rs73552805
|
0.00162
|
NM_000368.5(TSC1):c.*2874G>A
|
rs111832812
|
0.00158
|
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.*2142T>C
|
rs112314368
|
0.00135
|
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.*677G>C
|
rs189890583
|
0.00069
|
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.*1861G>A
|
rs561511694
|
0.00060
|
NM_000368.5(TSC1):c.*3997G>A
|
rs148982924
|
0.00060
|
NM_000368.5(TSC1):c.*3448C>T
|
rs201092466
|
0.00056
|
NM_000368.5(TSC1):c.*4680G>T
|
rs747969932
|
0.00055
|
NM_000368.5(TSC1):c.*3565C>T
|
rs771494783
|
0.00048
|
NM_000368.5(TSC1):c.*3538A>G
|
rs533324867
|
0.00041
|
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.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
NM_000368.5(TSC1):c.*116A>G
|
rs181486656
|
0.00038
|
NM_000368.5(TSC1):c.1998-19T>G
|
rs184408837
|
0.00037
|
NM_000368.5(TSC1):c.2625+19G>A
|
rs200135828
|
0.00037
|
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.*3045A>G
|
rs746365344
|
0.00035
|
NM_000368.5(TSC1):c.*3988G>A
|
rs563835484
|
0.00034
|
NM_000368.5(TSC1):c.*405A>G
|
rs560193480
|
0.00034
|
NM_000368.5(TSC1):c.*4447C>T
|
rs112968492
|
0.00034
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000368.5(TSC1):c.737+20A>G
|
rs764271835
|
0.00031
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000368.5(TSC1):c.*2854T>C
|
rs899761882
|
0.00029
|
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.810A>G (p.Ser270=)
|
rs142336706
|
0.00025
|
NM_000368.5(TSC1):c.*2628G>C
|
rs189852768
|
0.00024
|
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.*4788A>C
|
rs576342925
|
0.00021
|
NM_000368.5(TSC1):c.1677C>T (p.Cys559=)
|
rs368317116
|
0.00021
|
NM_000368.5(TSC1):c.*1474G>A
|
rs1013551475
|
0.00019
|
NM_000368.5(TSC1):c.*2094G>A
|
rs534649062
|
0.00019
|
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.*1251C>T
|
rs773490178
|
0.00016
|
NM_000368.5(TSC1):c.1333+14G>A
|
rs371733518
|
0.00016
|
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.*3034T>C
|
rs764220703
|
0.00015
|
NM_000368.5(TSC1):c.1333+13C>T
|
rs118203516
|
0.00014
|
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.*1452A>C
|
rs969974293
|
0.00011
|
NM_000368.5(TSC1):c.*499C>T
|
rs530003850
|
0.00011
|
NM_000368.5(TSC1):c.*60T>G
|
rs577329896
|
0.00011
|
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.-16G>A
|
rs114970627
|
0.00010
|
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.1567G>C (p.Ala523Pro)
|
rs118203548
|
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.*4492T>C
|
rs889436708
|
0.00007
|
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)
|
rs781312535
|
0.00007
|
NM_000368.5(TSC1):c.1302A>G (p.Arg434=)
|
rs907840461
|
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.*2168C>T
|
rs532469694
|
0.00006
|
NM_000368.5(TSC1):c.*2724C>T
|
rs749535135
|
0.00006
|
NM_000368.5(TSC1):c.*4254G>A
|
rs139801034
|
0.00006
|
NM_000368.5(TSC1):c.*806T>C
|
rs191614777
|
0.00006
|
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.*824C>T
|
rs886063613
|
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.231C>T (p.Asn77=)
|
rs397514809
|
0.00005
|
NM_000368.5(TSC1):c.2391+14C>T
|
rs757480492
|
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.402G>A (p.Leu134=)
|
rs147125501
|
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.*1508A>G
|
rs552190342
|
0.00004
|
NM_000368.5(TSC1):c.*1972A>C
|
rs917117694
|
0.00004
|
NM_000368.5(TSC1):c.*2638C>T
|
rs373845353
|
0.00004
|
NM_000368.5(TSC1):c.*4515G>A
|
rs886063565
|
0.00004
|
NM_000368.5(TSC1):c.*4538A>G
|
rs1036825417
|
0.00004
|
NM_000368.5(TSC1):c.110G>A (p.Arg37His)
|
rs750441497
|
0.00004
|
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)
|
rs1461609607
|
0.00004
|
NM_000368.5(TSC1):c.1141+10T>C
|
rs367601694
|
0.00004
|
NM_000368.5(TSC1):c.1263+15G>A
|
rs765809001
|
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.1506C>T (p.Gly502=)
|
rs772337076
|
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.211-18G>C
|
rs751712867
|
0.00004
|
NM_000368.5(TSC1):c.2209-18A>C
|
rs754189843
|
0.00004
|
NM_000368.5(TSC1):c.2325C>T (p.Leu775=)
|
rs1005558276
|
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.3402C>T (p.Asn1134=)
|
rs769266225
|
0.00004
|
NM_000368.5(TSC1):c.738-20A>G
|
rs397514824
|
0.00004
|
NM_000368.5(TSC1):c.912T>C (p.Tyr304=)
|
rs118203466
|
0.00004
|
NM_000368.5(TSC1):c.*1000A>G
|
rs886063610
|
0.00003
|
NM_000368.5(TSC1):c.*1680G>A
|
rs532372427
|
0.00003
|
NM_000368.5(TSC1):c.-144G>A
|
rs796053468
|
0.00003
|
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)
|
rs397514808
|
0.00003
|
NM_000368.5(TSC1):c.1113C>T (p.His371=)
|
rs771217333
|
0.00003
|
NM_000368.5(TSC1):c.114C>G (p.Gly38=)
|
rs776158461
|
0.00003
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
NM_000368.5(TSC1):c.1334-16C>T
|
rs373774544
|
0.00003
|
NM_000368.5(TSC1):c.1344T>G (p.Pro448=)
|
rs530908428
|
0.00003
|
NM_000368.5(TSC1):c.1439-4T>C
|
rs762473323
|
0.00003
|
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr)
|
rs751125011
|
0.00003
|
NM_000368.5(TSC1):c.1635T>C (p.Pro545=)
|
rs372284519
|
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.1888A>C (p.Lys630Gln)
|
rs1158059433
|
0.00003
|
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)
|
rs397514863
|
0.00003
|
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)
|
rs939275328
|
0.00003
|
NM_000368.5(TSC1):c.1997+18T>A
|
rs750338319
|
0.00003
|
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)
|
rs1336228562
|
0.00003
|
NM_000368.5(TSC1):c.2503-15A>G
|
rs752540347
|
0.00003
|
NM_000368.5(TSC1):c.2626-4_2626-3insTC
|
rs1554813651
|
0.00003
|
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg)
|
rs1396314595
|
0.00003
|
NM_000368.5(TSC1):c.2700G>A (p.Gln900=)
|
rs560986491
|
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.3112A>G (p.Ser1038Gly)
|
rs768443391
|
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.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe)
|
rs755799702
|
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.65G>A (p.Arg22Gln)
|
rs141736779
|
0.00003
|
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln)
|
rs755859330
|
0.00003
|
NM_000368.5(TSC1):c.762T>C (p.Asp254=)
|
rs780005416
|
0.00003
|
NM_000368.5(TSC1):c.798C>T (p.Pro266=)
|
rs770704462
|
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.932C>G (p.Pro311Arg)
|
rs776158460
|
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.*1052G>A
|
rs562950766
|
0.00002
|
NM_000368.5(TSC1):c.*2515T>C
|
rs886878529
|
0.00002
|
NM_000368.5(TSC1):c.*2637C>G
|
rs538802838
|
0.00002
|
NM_000368.5(TSC1):c.*2647C>T
|
rs886063595
|
0.00002
|
NM_000368.5(TSC1):c.*3272A>G
|
rs866920023
|
0.00002
|
NM_000368.5(TSC1):c.*4385G>T
|
rs552453527
|
0.00002
|
NM_000368.5(TSC1):c.*448G>A
|
rs886063617
|
0.00002
|
NM_000368.5(TSC1):c.*4522C>T
|
rs918338551
|
0.00002
|
NM_000368.5(TSC1):c.*941A>G
|
rs189368676
|
0.00002
|
NM_000368.5(TSC1):c.-214C>T
|
rs886063628
|
0.00002
|
NM_000368.5(TSC1):c.-35G>A
|
rs370122384
|
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.1224C>T (p.His408=)
|
rs781006583
|
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.1290A>G (p.Pro430=)
|
rs759914505
|
0.00002
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
NM_000368.5(TSC1):c.1528G>A (p.Asp510Asn)
|
rs779206386
|
0.00002
|
NM_000368.5(TSC1):c.1584C>T (p.Gly528=)
|
rs149439187
|
0.00002
|
NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr)
|
rs774671298
|
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.1738A>G (p.Ile580Val)
|
rs1179358967
|
0.00002
|
NM_000368.5(TSC1):c.1809G>T (p.Pro603=)
|
rs112434645
|
0.00002
|
NM_000368.5(TSC1):c.1848C>T (p.Ala616=)
|
rs752286096
|
0.00002
|
NM_000368.5(TSC1):c.1881G>A (p.Leu627=)
|
rs766204646
|
0.00002
|
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile)
|
rs779584449
|
0.00002
|
NM_000368.5(TSC1):c.2034C>T (p.His678=)
|
rs201392975
|
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.210+5T>C
|
rs753035149
|
0.00002
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00002
|
NM_000368.5(TSC1):c.2303G>A (p.Arg768His)
|
rs1033725987
|
0.00002
|
NM_000368.5(TSC1):c.2322G>A (p.Lys774=)
|
rs772038670
|
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.251C>A (p.Ala84Asp)
|
rs761717715
|
0.00002
|
NM_000368.5(TSC1):c.2542T>C (p.Leu848=)
|
rs780394011
|
0.00002
|
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)
|
rs747602915
|
0.00002
|
NM_000368.5(TSC1):c.270C>T (p.Leu90=)
|
rs142325036
|
0.00002
|
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu)
|
rs397514879
|
0.00002
|
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)
|
rs760762170
|
0.00002
|
NM_000368.5(TSC1):c.2901C>T (p.Gly967=)
|
rs774634388
|
0.00002
|
NM_000368.5(TSC1):c.2976-14C>T
|
rs368652971
|
0.00002
|
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)
|
rs765753157
|
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.3195G>A (p.Thr1065=)
|
rs118203746
|
0.00002
|
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=)
|
rs749995749
|
0.00002
|
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu)
|
rs1442514678
|
0.00002
|
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala)
|
rs762845573
|
0.00002
|
NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser)
|
rs760918561
|
0.00002
|
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=)
|
rs774980129
|
0.00002
|
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=)
|
rs1244090738
|
0.00002
|
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser)
|
rs779395169
|
0.00002
|
NM_000368.5(TSC1):c.364-7C>T
|
rs775465260
|
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.389C>T (p.Thr130Ile)
|
rs779340088
|
0.00002
|
NM_000368.5(TSC1):c.47C>G (p.Ser16Cys)
|
rs774900322
|
0.00002
|
NM_000368.5(TSC1):c.509-10C>T
|
rs780670013
|
0.00002
|
NM_000368.5(TSC1):c.509-13G>A
|
rs746269100
|
0.00002
|
NM_000368.5(TSC1):c.531C>T (p.Leu177=)
|
rs752615412
|
0.00002
|
NM_000368.5(TSC1):c.542A>T (p.His181Leu)
|
rs397515294
|
0.00002
|
NM_000368.5(TSC1):c.569G>A (p.Arg190His)
|
rs118203402
|
0.00002
|
NM_000368.5(TSC1):c.597C>T (p.Phe199=)
|
rs202242304
|
0.00002
|
NM_000368.5(TSC1):c.69C>T (p.Asp23=)
|
rs769282604
|
0.00002
|
NM_000368.5(TSC1):c.720T>G (p.His240Gln)
|
rs779872953
|
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.930C>T (p.Thr310=)
|
rs759004332
|
0.00002
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00002
|
NM_000368.5(TSC1):c.*1215G>A
|
rs1013608610
|
0.00001
|
NM_000368.5(TSC1):c.*1349G>A
|
rs1195760994
|
0.00001
|
NM_000368.5(TSC1):c.*1970G>A
|
rs886063603
|
0.00001
|
NM_000368.5(TSC1):c.*2104A>G
|
rs1019153783
|
0.00001
|
NM_000368.5(TSC1):c.*2446A>G
|
rs558966777
|
0.00001
|
NM_000368.5(TSC1):c.*249G>A
|
rs1296777494
|
0.00001
|
NM_000368.5(TSC1):c.*250G>C
|
rs1309725348
|
0.00001
|
NM_000368.5(TSC1):c.*2576T>C
|
rs886063599
|
0.00001
|
NM_000368.5(TSC1):c.*2829A>G
|
rs886063591
|
0.00001
|
NM_000368.5(TSC1):c.*2890A>G
|
rs946784136
|
0.00001
|
NM_000368.5(TSC1):c.*3484A>G
|
rs1335423130
|
0.00001
|
NM_000368.5(TSC1):c.*3959T>C
|
rs1445439695
|
0.00001
|
NM_000368.5(TSC1):c.*4128G>A
|
rs886063572
|
0.00001
|
NM_000368.5(TSC1):c.*651C>G
|
rs369911288
|
0.00001
|
NM_000368.5(TSC1):c.1000T>A (p.Ser334Thr)
|
rs1845955815
|
0.00001
|
NM_000368.5(TSC1):c.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
NM_000368.5(TSC1):c.1016C>T (p.Thr339Ile)
|
rs1246013552
|
0.00001
|
NM_000368.5(TSC1):c.1029+12A>G
|
rs1333680936
|
0.00001
|
NM_000368.5(TSC1):c.1038T>C (p.Leu346=)
|
rs753360364
|
0.00001
|
NM_000368.5(TSC1):c.1045C>G (p.Pro349Ala)
|
rs779767990
|
0.00001
|
NM_000368.5(TSC1):c.1050T>C (p.Ser350=)
|
rs150777389
|
0.00001
|
NM_000368.5(TSC1):c.1059T>C (p.Cys353=)
|
rs1216537041
|
0.00001
|
NM_000368.5(TSC1):c.106+4A>G
|
rs373075566
|
0.00001
|
NM_000368.5(TSC1):c.107-8T>C
|
rs763234027
|
0.00001
|
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro)
|
rs201738258
|
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.1091A>T (p.Asn364Ile)
|
rs876658981
|
0.00001
|
NM_000368.5(TSC1):c.1096C>G (p.Pro366Ala)
|
rs1041988929
|
0.00001
|
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)
|
rs763915012
|
0.00001
|
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala)
|
rs1412914051
|
0.00001
|
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys)
|
rs1309560054
|
0.00001
|
NM_000368.5(TSC1):c.1105C>A (p.Leu369Met)
|
rs118203496
|
0.00001
|
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala)
|
rs760638759
|
0.00001
|
NM_000368.5(TSC1):c.1116T>C (p.Pro372=)
|
rs1311647964
|
0.00001
|
NM_000368.5(TSC1):c.1130T>G (p.Phe377Cys)
|
rs1187617751
|
0.00001
|
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser)
|
rs1064796512
|
0.00001
|
NM_000368.5(TSC1):c.1141+17T>C
|
rs1335504392
|
0.00001
|
NM_000368.5(TSC1):c.1142-17C>G
|
rs1845909117
|
0.00001
|
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser)
|
rs367564729
|
0.00001
|
NM_000368.5(TSC1):c.115C>T (p.Pro39Ser)
|
rs1588359851
|
0.00001
|
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu)
|
rs752575728
|
0.00001
|
NM_000368.5(TSC1):c.118A>G (p.Met40Val)
|
rs974227401
|
0.00001
|
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu)
|
rs766487204
|
0.00001
|
NM_000368.5(TSC1):c.1191A>G (p.Pro397=)
|
rs370281825
|
0.00001
|
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val)
|
rs918660416
|
0.00001
|
NM_000368.5(TSC1):c.1196C>T (p.Pro399Leu)
|
rs761014195
|
0.00001
|
NM_000368.5(TSC1):c.1200C>G (p.Leu400=)
|
rs767514820
|
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.121C>T (p.Leu41Phe)
|
rs118203334
|
0.00001
|
NM_000368.5(TSC1):c.1232T>A (p.Leu411His)
|
rs140410001
|
0.00001
|
NM_000368.5(TSC1):c.1233C>T (p.Leu411=)
|
rs1588321365
|
0.00001
|
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu)
|
rs1588321339
|
0.00001
|
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)
|
rs1060503218
|
0.00001
|
NM_000368.5(TSC1):c.1244C>T (p.Thr415Ile)
|
rs746550630
|
0.00001
|
NM_000368.5(TSC1):c.1248C>T (p.Val416=)
|
rs777823426
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.1253C>A (p.Pro418His)
|
rs997339959
|
0.00001
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1263+10A>G
|
rs1260305500
|
0.00001
|
NM_000368.5(TSC1):c.1263+14C>T
|
rs1240806849
|
0.00001
|
NM_000368.5(TSC1):c.1263+5G>A
|
rs767745683
|
0.00001
|
NM_000368.5(TSC1):c.1263+6_1263+8dup
|
rs751182565
|
0.00001
|
NM_000368.5(TSC1):c.1263+9C>T
|
rs761837376
|
0.00001
|
NM_000368.5(TSC1):c.1264-10del
|
rs753168838
|
0.00001
|
NM_000368.5(TSC1):c.1269G>C (p.Glu423Asp)
|
rs1272450087
|
0.00001
|
NM_000368.5(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla)
|
rs1203057835
|
0.00001
|
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro)
|
rs1845728007
|
0.00001
|
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val)
|
rs1554816420
|
0.00001
|
NM_000368.5(TSC1):c.1305A>G (p.Gln435=)
|
rs1334781311
|
0.00001
|
NM_000368.5(TSC1):c.130A>G (p.Thr44Ala)
|
rs1399266964
|
0.00001
|
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
|
rs199800297
|
0.00001
|
NM_000368.5(TSC1):c.1333+19T>C
|
rs1292520108
|
0.00001
|
NM_000368.5(TSC1):c.1333+7T>G
|
rs1588313945
|
0.00001
|
NM_000368.5(TSC1):c.133T>C (p.Leu45=)
|
rs755226092
|
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.1418T>C (p.Ile473Thr)
|
rs185159716
|
0.00001
|
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del)
|
rs796053469
|
0.00001
|
NM_000368.5(TSC1):c.1438+10G>A
|
rs1845690652
|
0.00001
|
NM_000368.5(TSC1):c.1438+13G>A
|
rs1478759489
|
0.00001
|
NM_000368.5(TSC1):c.1438+19C>A
|
rs778924863
|
0.00001
|
NM_000368.5(TSC1):c.1438+20T>C
|
rs1406922569
|
0.00001
|
NM_000368.5(TSC1):c.1439-10T>A
|
rs1060504852
|
0.00001
|
NM_000368.5(TSC1):c.1539A>G (p.Pro513=)
|
rs755055358
|
0.00001
|
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)
|
rs371908551
|
0.00001
|
NM_000368.5(TSC1):c.1561T>C (p.Ser521Pro)
|
rs1194627656
|
0.00001
|
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu)
|
rs759379027
|
0.00001
|
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro)
|
rs1461138345
|
0.00001
|
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe)
|
rs1276296733
|
0.00001
|
NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr)
|
rs750784794
|
0.00001
|
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg)
|
rs767708806
|
0.00001
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
NM_000368.5(TSC1):c.1590C>T (p.Ser530=)
|
rs762424091
|
0.00001
|
NM_000368.5(TSC1):c.1591G>A (p.Val531Met)
|
rs377279170
|
0.00001
|
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)
|
rs765149885
|
0.00001
|
NM_000368.5(TSC1):c.1596C>T (p.Asn532=)
|
rs759461471
|
0.00001
|
NM_000368.5(TSC1):c.1597C>A (p.Pro533Thr)
|
rs1331420425
|
0.00001
|
NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp)
|
rs1419023919
|
0.00001
|
NM_000368.5(TSC1):c.1626G>A (p.Lys542=)
|
rs756935981
|
0.00001
|
NM_000368.5(TSC1):c.1627C>T (p.Leu543Phe)
|
rs1845641287
|
0.00001
|
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu)
|
rs770570830
|
0.00001
|
NM_000368.5(TSC1):c.1643C>T (p.Pro548Leu)
|
rs1588310178
|
0.00001
|
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser)
|
rs1330089369
|
0.00001
|
NM_000368.5(TSC1):c.1674C>T (p.Pro558=)
|
rs878853962
|
0.00001
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
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.1754C>T (p.Pro585Leu)
|
rs1845627444
|
0.00001
|
NM_000368.5(TSC1):c.1765C>T (p.Pro589Ser)
|
rs1299279813
|
0.00001
|
NM_000368.5(TSC1):c.1772C>T (p.Pro591Leu)
|
rs768985094
|
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.1779A>G (p.Arg593=)
|
rs964191879
|
0.00001
|
NM_000368.5(TSC1):c.177C>T (p.His59=)
|
rs767647768
|
0.00001
|
NM_000368.5(TSC1):c.1780G>A (p.Val594Met)
|
rs1845623814
|
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.1809G>A (p.Pro603=)
|
rs112434645
|
0.00001
|
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)
|
rs1057522817
|
0.00001
|
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)
|
rs1343881428
|
0.00001
|
NM_000368.5(TSC1):c.1818T>A (p.His606Gln)
|
rs758769193
|
0.00001
|
NM_000368.5(TSC1):c.181C>T (p.Leu61=)
|
rs752047592
|
0.00001
|
NM_000368.5(TSC1):c.1849C>T (p.His617Tyr)
|
rs397514854
|
0.00001
|
NM_000368.5(TSC1):c.1869G>A (p.Lys623=)
|
rs778556382
|
0.00001
|
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)
|
rs754401816
|
0.00001
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
NM_000368.5(TSC1):c.1890A>G (p.Lys630=)
|
rs1370477883
|
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.1954C>T (p.Leu652=)
|
rs747452647
|
0.00001
|
NM_000368.5(TSC1):c.195A>G (p.Gln65=)
|
rs764523181
|
0.00001
|
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)
|
rs914628341
|
0.00001
|
NM_000368.5(TSC1):c.1997+16A>G
|
rs755582593
|
0.00001
|
NM_000368.5(TSC1):c.1997+4A>G
|
rs1404828446
|
0.00001
|
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)
|
rs1419720341
|
0.00001
|
NM_000368.5(TSC1):c.1998-4C>T
|
rs1179883422
|
0.00001
|
NM_000368.5(TSC1):c.2003C>T (p.Pro668Leu)
|
rs772603060
|
0.00001
|
NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr)
|
rs774835995
|
0.00001
|
NM_000368.5(TSC1):c.2023G>C (p.Asp675His)
|
rs768189353
|
0.00001
|
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
|
rs748901883
|
0.00001
|
NM_000368.5(TSC1):c.2032C>T (p.His678Tyr)
|
rs755647717
|
0.00001
|
NM_000368.5(TSC1):c.2033A>T (p.His678Leu)
|
rs745413532
|
0.00001
|
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg)
|
rs757322533
|
0.00001
|
NM_000368.5(TSC1):c.2041+16T>G
|
rs754045538
|
0.00001
|
NM_000368.5(TSC1):c.2044T>C (p.Ser682Pro)
|
rs1588304748
|
0.00001
|
NM_000368.5(TSC1):c.2048C>G (p.Pro683Arg)
|
rs1413960643
|
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.2085G>A (p.Leu695=)
|
rs767518902
|
0.00001
|
NM_000368.5(TSC1):c.2092C>T (p.Leu698=)
|
rs551954460
|
0.00001
|
NM_000368.5(TSC1):c.210+13A>G
|
rs759235039
|
0.00001
|
NM_000368.5(TSC1):c.210+17C>T
|
rs1432418711
|
0.00001
|
NM_000368.5(TSC1):c.210+9T>C
|
rs1173791389
|
0.00001
|
NM_000368.5(TSC1):c.2109C>T (p.Leu703=)
|
rs1440846632
|
0.00001
|
NM_000368.5(TSC1):c.211-11T>C
|
rs1258774658
|
0.00001
|
NM_000368.5(TSC1):c.211-15C>G
|
rs1459098612
|
0.00001
|
NM_000368.5(TSC1):c.211-8A>G
|
rs753082880
|
0.00001
|
NM_000368.5(TSC1):c.213C>A (p.His71Gln)
|
rs765578482
|
0.00001
|
NM_000368.5(TSC1):c.2144G>A (p.Arg715Gln)
|
rs986350787
|
0.00001
|
NM_000368.5(TSC1):c.2145G>C (p.Arg715=)
|
rs1379334013
|
0.00001
|
NM_000368.5(TSC1):c.2172C>A (p.Ile724=)
|
rs1845495899
|
0.00001
|
NM_000368.5(TSC1):c.2196T>C (p.His732=)
|
rs776441369
|
0.00001
|
NM_000368.5(TSC1):c.2208+7A>G
|
rs777732621
|
0.00001
|
NM_000368.5(TSC1):c.2209-14C>T
|
rs1554815062
|
0.00001
|
NM_000368.5(TSC1):c.2226A>G (p.Leu742=)
|
rs397514878
|
0.00001
|
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)
|
rs760004541
|
0.00001
|
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)
|
rs776386313
|
0.00001
|
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp)
|
rs1403227945
|
0.00001
|
NM_000368.5(TSC1):c.22G>A (p.Gly8Arg)
|
rs773784532
|
0.00001
|
NM_000368.5(TSC1):c.2307C>T (p.Asp769=)
|
rs876658671
|
0.00001
|
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)
|
rs760208449
|
0.00001
|
NM_000368.5(TSC1):c.2367C>T (p.Phe789=)
|
rs1588301207
|
0.00001
|
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)
|
rs749111647
|
0.00001
|
NM_000368.5(TSC1):c.2391+17C>T
|
rs572485175
|
0.00001
|
NM_000368.5(TSC1):c.2392-13T>C
|
rs779536336
|
0.00001
|
NM_000368.5(TSC1):c.2392-14G>A
|
rs1057524717
|
0.00001
|
NM_000368.5(TSC1):c.2392-16A>G
|
rs758374143
|
0.00001
|
NM_000368.5(TSC1):c.2392-20G>T
|
rs1181323344
|
0.00001
|
NM_000368.5(TSC1):c.2394G>A (p.Thr798=)
|
rs1060504860
|
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.2502+3A>G
|
rs1349115830
|
0.00001
|
NM_000368.5(TSC1):c.2503-13G>A
|
rs1197465592
|
0.00001
|
NM_000368.5(TSC1):c.2503-20T>C
|
rs539758749
|
0.00001
|
NM_000368.5(TSC1):c.2503-4T>G
|
rs772414581
|
0.00001
|
NM_000368.5(TSC1):c.2519C>T (p.Ser840Leu)
|
rs1564475110
|
0.00001
|
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)
|
rs547498792
|
0.00001
|
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)
|
rs749414404
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000368.5(TSC1):c.2577C>T (p.Asn859=)
|
rs781553258
|
0.00001
|
NM_000368.5(TSC1):c.2585A>G (p.Tyr862Cys)
|
rs1060503221
|
0.00001
|
NM_000368.5(TSC1):c.2604C>T (p.Asn868=)
|
rs147163264
|
0.00001
|
NM_000368.5(TSC1):c.2614G>C (p.Asp872His)
|
rs746607455
|
0.00001
|
NM_000368.5(TSC1):c.2625+14C>T
|
rs757876250
|
0.00001
|
NM_000368.5(TSC1):c.2625+15G>A
|
rs565234395
|
0.00001
|
NM_000368.5(TSC1):c.2625+17G>A
|
rs1207319302
|
0.00001
|
NM_000368.5(TSC1):c.2626-5T>C
|
rs1444272064
|
0.00001
|
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr)
|
rs754457018
|
0.00001
|
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys)
|
rs1449821288
|
0.00001
|
NM_000368.5(TSC1):c.2658A>G (p.Lys886=)
|
rs368212910
|
0.00001
|
NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu)
|
rs772324460
|
0.00001
|
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp)
|
rs748845915
|
0.00001
|
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)
|
rs780115763
|
0.00001
|
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr)
|
rs1374339026
|
0.00001
|
NM_000368.5(TSC1):c.272C>G (p.Ser91Trp)
|
rs118203361
|
0.00001
|
NM_000368.5(TSC1):c.2745C>T (p.His915=)
|
rs1392904165
|
0.00001
|
NM_000368.5(TSC1):c.2766T>C (p.Leu922=)
|
rs546119844
|
0.00001
|
NM_000368.5(TSC1):c.2766T>G (p.Leu922=)
|
rs546119844
|
0.00001
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
NM_000368.5(TSC1):c.2796T>C (p.Asp932=)
|
rs766871150
|
0.00001
|
NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe)
|
rs1172586020
|
0.00001
|
NM_000368.5(TSC1):c.2814-9A>G
|
rs878853965
|
0.00001
|
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)
|
rs751362258
|
0.00001
|
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg)
|
rs1212768461
|
0.00001
|
NM_000368.5(TSC1):c.2878T>C (p.Leu960=)
|
rs766383986
|
0.00001
|
NM_000368.5(TSC1):c.287T>C (p.Val96Ala)
|
rs370243092
|
0.00001
|
NM_000368.5(TSC1):c.2880G>A (p.Leu960=)
|
rs1845126730
|
0.00001
|
NM_000368.5(TSC1):c.2885T>G (p.Ile962Ser)
|
rs1438535722
|
0.00001
|
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)
|
rs1060503217
|
0.00001
|
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)
|
rs767946427
|
0.00001
|
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys)
|
rs762213436
|
0.00001
|
NM_000368.5(TSC1):c.289A>G (p.Ile97Val)
|
rs138541569
|
0.00001
|
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe)
|
rs1399717425
|
0.00001
|
NM_000368.5(TSC1):c.2910G>A (p.Glu970=)
|
rs762627301
|
0.00001
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg)
|
rs770834438
|
0.00001
|
NM_000368.5(TSC1):c.2940A>G (p.Glu980=)
|
rs557674294
|
0.00001
|
NM_000368.5(TSC1):c.2964A>G (p.Ala988=)
|
rs1057520482
|
0.00001
|
NM_000368.5(TSC1):c.2975+6A>T
|
rs1060503220
|
0.00001
|
NM_000368.5(TSC1):c.2976-16C>T
|
rs759106092
|
0.00001
|
NM_000368.5(TSC1):c.2976-18T>C
|
rs397514866
|
0.00001
|
NM_000368.5(TSC1):c.2976-2A>G
|
rs1588288463
|
0.00001
|
NM_000368.5(TSC1):c.2982C>T (p.Asp994=)
|
rs199919348
|
0.00001
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
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.3011T>C (p.Met1004Thr)
|
rs757370776
|
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.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu)
|
rs796053449
|
0.00001
|
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser)
|
rs1020905743
|
0.00001
|
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)
|
rs1313165721
|
0.00001
|
NM_000368.5(TSC1):c.305C>G (p.Ser102Cys)
|
rs1307630727
|
0.00001
|
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu)
|
rs1845082733
|
0.00001
|
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)
|
rs375394001
|
0.00001
|
NM_000368.5(TSC1):c.3080G>T (p.Arg1027Leu)
|
rs796053461
|
0.00001
|
NM_000368.5(TSC1):c.3092G>A (p.Gly1031Glu)
|
rs1845079425
|
0.00001
|
NM_000368.5(TSC1):c.3101G>A (p.Gly1034Asp)
|
rs1034398735
|
0.00001
|
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly)
|
rs1490199228
|
0.00001
|
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=)
|
rs1289954163
|
0.00001
|
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn)
|
rs1554820281
|
0.00001
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=)
|
rs1332702219
|
0.00001
|
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)
|
rs587778726
|
0.00001
|
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser)
|
rs1210523479
|
0.00001
|
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser)
|
rs587778727
|
0.00001
|
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)
|
rs753263747
|
0.00001
|
NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly)
|
rs1203493016
|
0.00001
|
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)
|
rs755396992
|
0.00001
|
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met)
|
rs753388676
|
0.00001
|
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)
|
rs1167362899
|
0.00001
|
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)
|
rs878853966
|
0.00001
|
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=)
|
rs140622357
|
0.00001
|
NM_000368.5(TSC1):c.3248G>A (p.Ser1083Asn)
|
rs1845055163
|
0.00001
|
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)
|
rs776694051
|
0.00001
|
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr)
|
rs747053008
|
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.3300C>T (p.Ser1100=)
|
rs754282309
|
0.00001
|
NM_000368.5(TSC1):c.3305G>C (p.Ser1102Thr)
|
rs1263464680
|
0.00001
|
NM_000368.5(TSC1):c.3309G>A (p.Gln1103=)
|
rs1474184918
|
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.3322G>A (p.Gly1108Ser)
|
rs118203753
|
0.00001
|
NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn)
|
rs764140399
|
0.00001
|
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)
|
rs762641110
|
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.3381G>A (p.Val1127=)
|
rs773586317
|
0.00001
|
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val)
|
rs772233665
|
0.00001
|
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn)
|
rs1845035929
|
0.00001
|
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)
|
rs1249897804
|
0.00001
|
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=)
|
rs568004490
|
0.00001
|
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)
|
rs751398082
|
0.00001
|
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=)
|
rs745475737
|
0.00001
|
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)
|
rs764018144
|
0.00001
|
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=)
|
rs763931959
|
0.00001
|
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser)
|
rs1060503227
|
0.00001
|
NM_000368.5(TSC1):c.3425C>T (p.Pro1142Leu)
|
rs1207133391
|
0.00001
|
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=)
|
rs758286878
|
0.00001
|
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)
|
rs773541137
|
0.00001
|
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)
|
rs767904247
|
0.00001
|
NM_000368.5(TSC1):c.3436G>C (p.Asp1146His)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.3475A>T (p.Thr1159Ser)
|
rs1216169846
|
0.00001
|
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr)
|
rs1470270925
|
0.00001
|
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)
|
rs749746550
|
0.00001
|
NM_000368.5(TSC1):c.364A>G (p.Met122Val)
|
rs1846685026
|
0.00001
|
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser)
|
rs747251435
|
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.380T>C (p.Val127Ala)
|
rs1444696723
|
0.00001
|
NM_000368.5(TSC1):c.381T>C (p.Val127=)
|
rs1846682219
|
0.00001
|
NM_000368.5(TSC1):c.38T>C (p.Met13Thr)
|
rs1041071543
|
0.00001
|
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)
|
rs118203381
|
0.00001
|
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn)
|
rs1163879822
|
0.00001
|
NM_000368.5(TSC1):c.418C>G (p.Leu140Val)
|
rs1554819915
|
0.00001
|
NM_000368.5(TSC1):c.424A>G (p.Met142Val)
|
rs1846677025
|
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.508+14C>T
|
rs144270749
|
0.00001
|
NM_000368.5(TSC1):c.508+17A>G
|
rs763034091
|
0.00001
|
NM_000368.5(TSC1):c.508+18T>C
|
rs1057522667
|
0.00001
|
NM_000368.5(TSC1):c.509-16C>T
|
rs1316888340
|
0.00001
|
NM_000368.5(TSC1):c.50C>G (p.Pro17Arg)
|
rs1189239082
|
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.51C>G (p.Pro17=)
|
rs768175095
|
0.00001
|
NM_000368.5(TSC1):c.524T>C (p.Val175Ala)
|
rs1415895533
|
0.00001
|
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys)
|
rs1060503209
|
0.00001
|
NM_000368.5(TSC1):c.540C>T (p.Leu180=)
|
rs201562103
|
0.00001
|
NM_000368.5(TSC1):c.546C>T (p.Ala182=)
|
rs1245007527
|
0.00001
|
NM_000368.5(TSC1):c.555C>T (p.Tyr185=)
|
rs118203398
|
0.00001
|
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser)
|
rs577983115
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000368.5(TSC1):c.61G>T (p.Val21Leu)
|
rs1392596033
|
0.00001
|
NM_000368.5(TSC1):c.622A>C (p.Ser208Arg)
|
rs778671811
|
0.00001
|
NM_000368.5(TSC1):c.641A>G (p.Glu214Gly)
|
rs1483354391
|
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.657G>C (p.Val219=)
|
rs755910789
|
0.00001
|
NM_000368.5(TSC1):c.663+17T>G
|
rs1564497799
|
0.00001
|
NM_000368.5(TSC1):c.663+8G>A
|
rs1288691986
|
0.00001
|
NM_000368.5(TSC1):c.670A>T (p.Met224Leu)
|
rs535397245
|
0.00001
|
NM_000368.5(TSC1):c.702G>A (p.Val234=)
|
rs1216129023
|
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.730C>A (p.Pro244Thr)
|
rs1846543788
|
0.00001
|
NM_000368.5(TSC1):c.737+6G>A
|
rs567909130
|
0.00001
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
NM_000368.5(TSC1):c.771C>T (p.Ile257=)
|
rs1060504854
|
0.00001
|
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)
|
rs118203450
|
0.00001
|
NM_000368.5(TSC1):c.774G>A (p.Glu258=)
|
rs1554817678
|
0.00001
|
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg)
|
rs371225009
|
0.00001
|
NM_000368.5(TSC1):c.804A>G (p.Glu268=)
|
rs753895570
|
0.00001
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.818A>G (p.Asp273Gly)
|
rs768057796
|
0.00001
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00001
|
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro)
|
rs774009225
|
0.00001
|
NM_000368.5(TSC1):c.830T>C (p.Val277Ala)
|
rs200749357
|
0.00001
|
NM_000368.5(TSC1):c.859C>T (p.His287Tyr)
|
rs1278022127
|
0.00001
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
NM_000368.5(TSC1):c.863G>A (p.Arg288His)
|
rs1424366444
|
0.00001
|
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn)
|
rs755195460
|
0.00001
|
NM_000368.5(TSC1):c.873T>C (p.Asp291=)
|
rs753928162
|
0.00001
|
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala)
|
rs1588326742
|
0.00001
|
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)
|
rs1415705359
|
0.00001
|
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)
|
rs370916731
|
0.00001
|
NM_000368.5(TSC1):c.903G>C (p.Gln301His)
|
rs762200890
|
0.00001
|
NM_000368.5(TSC1):c.913+5A>G
|
rs1468819254
|
0.00001
|
NM_000368.5(TSC1):c.943T>A (p.Ser315Thr)
|
rs185815387
|
0.00001
|
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys)
|
rs1332978347
|
0.00001
|
NM_000368.5(TSC1):c.960A>G (p.Leu320=)
|
rs770183315
|
0.00001
|
NC_000009.11:g.(?_135771184)_(135781738_?)del
|
|
|
NC_000009.11:g.(?_135771612)_(135778184_?)dup
|
|
|
NC_000009.11:g.(?_135771622)_(135773017_?)del
|
|
|
NC_000009.11:g.(?_135771622)_(135801136_?)dup
|
|
|
NC_000009.11:g.(?_135771622)_(135804259_?)dup
|
|
|
NC_000009.11:g.(?_135771622)_(135810482_?)dup
|
|
|
NC_000009.11:g.(?_135771622)_(135820530_?)del
|
|
|
NC_000009.11:g.(?_135775735)_(135820530_?)del
|
|
|
NC_000009.11:g.(?_135776102)_(135787844_?)dup
|
|
|
NC_000009.11:g.(?_135777972)_(135782777_?)del
|
|
|
NC_000009.11:g.(?_135782098)_(135796843_?)del
|
|
|
NC_000009.11:g.(?_135796740)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135797196)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135798715)_(135798899_?)del
|
|
|
NC_000009.11:g.(?_135798715)_(135804279_?)dup
|
|
|
NC_000009.11:g.(?_135802568)_(135804339_?)del
|
|
|
NC_000009.11:g.(?_135804148)_(135804265_?)dup
|
|
|
NC_000009.11:g.(?_135810420)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135819930)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135820391)_(135821434_?)del
|
|
|
NC_000009.11:g.135773000_135773001insCA
|
rs1554813651
|
|
NC_000009.12:g.(?_132896215)_(132900857_?)del
|
|
|
NC_000009.12:g.(?_132896215)_(132904474_?)del
|
|
|
NC_000009.12:g.(?_132896215)_(132928892_?)del
|
|
|
NC_000009.12:g.(?_132896229)_(132928878_?)del
|
|
|
NC_000009.12:g.(?_132896235)_(132945143_?)dup
|
|
|
NC_000009.12:g.(?_132897164)_(132897630_?)del
|
|
|
NC_000009.12:g.(?_132900348)_(132921993_?)del
|
|
|
NC_000009.12:g.(?_132910551)_(132912477_?)del
|
|
|
NC_000009.12:g.(?_132910551)_(132928892_?)del
|
|
|
NC_000009.12:g.(?_132921343)_(132921993_?)del
|
|
|
NC_000009.12:g.(?_132927181)_(132927324_?)del
|
|
|
NC_000009.12:g.(?_132944543)_(132945143_?)del
|
|
|
NC_000009.12:g.132944862_132944882dup
|
|
|
NM_000368.4(TSC1):c.1030delG
|
rs118203486
|
|
NM_000368.4(TSC1):c.2006_2007insTTTAGGTTGCCTTT
|
|
|
NM_000368.5(TSC1):c.*1036C>G
|
rs1844969383
|
|
NM_000368.5(TSC1):c.*1050T>C
|
rs530042727
|
|
NM_000368.5(TSC1):c.*106A>G
|
rs886063620
|
|
NM_000368.5(TSC1):c.*1089G>A
|
rs886063609
|
|
NM_000368.5(TSC1):c.*1239C>T
|
rs1350222885
|
|
NM_000368.5(TSC1):c.*1355C>A
|
rs749683153
|
|
NM_000368.5(TSC1):c.*1507G>A
|
rs739441
|
|
NM_000368.5(TSC1):c.*1839G>A
|
rs1170523556
|
|
NM_000368.5(TSC1):c.*198T>C
|
rs7037703
|
|
NM_000368.5(TSC1):c.*2558A>C
|
rs115516164
|
|
NM_000368.5(TSC1):c.*289T>A
|
rs115091888
|
|
NM_000368.5(TSC1):c.*2924T>C
|
rs1844864883
|
|
NM_000368.5(TSC1):c.*295C>A
|
rs113549339
|
|
NM_000368.5(TSC1):c.*295C>G
|
rs113549339
|
|
NM_000368.5(TSC1):c.*298A>G
|
rs886063619
|
|
NM_000368.5(TSC1):c.*3063A>T
|
rs886063586
|
|
NM_000368.5(TSC1):c.*3092T>C
|
rs1844856793
|
|
NM_000368.5(TSC1):c.*3170G>A
|
rs367605870
|
|
NM_000368.5(TSC1):c.*3238T>C
|
rs886063585
|
|
NM_000368.5(TSC1):c.*350G>A
|
rs1845006725
|
|
NM_000368.5(TSC1):c.*3648C>T
|
rs113313202
|
|
NM_000368.5(TSC1):c.*3685G>A
|
rs1844826893
|
|
NM_000368.5(TSC1):c.*3836G>A
|
rs572231078
|
|
NM_000368.5(TSC1):c.*4105C>T
|
rs1588276922
|
|
NM_000368.5(TSC1):c.*4119T>C
|
rs1844802090
|
|
NM_000368.5(TSC1):c.*4356C>T
|
rs886063566
|
|
NM_000368.5(TSC1):c.*4763T>C
|
rs79470094
|
|
NM_000368.5(TSC1):c.*4826A>C
|
rs886063563
|
|
NM_000368.5(TSC1):c.*936T>C
|
rs1170508811
|
|
NM_000368.5(TSC1):c.-144+134G>T
|
rs375418118
|
|
NM_000368.5(TSC1):c.-166A>G
|
rs886063626
|
|
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter)
|
rs118203481
|
|
NM_000368.5(TSC1):c.1001C>G (p.Ser334Trp)
|
rs118203481
|
|
NM_000368.5(TSC1):c.1002G>C (p.Ser334=)
|
rs200820603
|
|
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)
|
rs1845955010
|
|
NM_000368.5(TSC1):c.1005A>G (p.Thr335=)
|
rs753091213
|
|
NM_000368.5(TSC1):c.1005dup (p.Arg336fs)
|
rs2131975092
|
|
NM_000368.5(TSC1):c.1006C>A (p.Arg336=)
|
rs118203483
|
|
NM_000368.5(TSC1):c.1006del (p.Arg336fs)
|
|
|
NM_000368.5(TSC1):c.1008G>A (p.Arg336=)
|
rs2131974677
|
|
NM_000368.5(TSC1):c.1008G>T (p.Arg336=)
|
rs2131974677
|
|
NM_000368.5(TSC1):c.1009C>T (p.Leu337=)
|
rs1845954330
|
|
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val)
|
rs2131974315
|
|
NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs)
|
rs1554817344
|
|
NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser)
|
rs570809282
|
|
NM_000368.5(TSC1):c.1015dup (p.Thr339fs)
|
|
|
NM_000368.5(TSC1):c.1017T>C (p.Thr339=)
|
|
|
NM_000368.5(TSC1):c.101A>G (p.Asn34Ser)
|
rs980870206
|
|
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile)
|
|
|
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu)
|
rs1588324106
|
|
NM_000368.5(TSC1):c.1023A>G (p.Pro341=)
|
rs2131973361
|
|
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser)
|
|
|
NM_000368.5(TSC1):c.1025C>T (p.Pro342Leu)
|
rs1060503197
|
|
NM_000368.5(TSC1):c.1026A>C (p.Pro342=)
|
rs1588324071
|
|
NM_000368.5(TSC1):c.1026A>G (p.Pro342=)
|
rs1588324071
|
|
NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter)
|
rs2131972870
|
|
NM_000368.5(TSC1):c.1028A>T (p.Gln343Leu)
|
|
|
NM_000368.5(TSC1):c.1029+10C>T
|
rs1222482776
|
|
NM_000368.5(TSC1):c.1029+14T>C
|
|
|
NM_000368.5(TSC1):c.1029+14T>G
|
|
|
NM_000368.5(TSC1):c.1029+15A>G
|
|
|
NM_000368.5(TSC1):c.1029+16G>A
|
|
|
NM_000368.5(TSC1):c.1029+17T>C
|
rs2131972072
|
|
NM_000368.5(TSC1):c.1029+19T>C
|
rs2131971991
|
|
NM_000368.5(TSC1):c.1029+1G>A
|
rs118203485
|
|
NM_000368.5(TSC1):c.1029+1G>C
|
rs118203485
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.1029+4T>C
|
rs772962741
|
|
NM_000368.5(TSC1):c.1029+5G>A
|
rs1845952054
|
|
NM_000368.5(TSC1):c.1029+5G>T
|
|
|
NM_000368.5(TSC1):c.1029+6G>T
|
rs1845951912
|
|
NM_000368.5(TSC1):c.1029+8G>A
|
rs1036865129
|
|
NM_000368.5(TSC1):c.1029A>G (p.Gln343=)
|
|
|
NM_000368.5(TSC1):c.1030-12T>C
|
|
|
NM_000368.5(TSC1):c.1030-14T>C
|
|
|
NM_000368.5(TSC1):c.1030-17C>A
|
rs1432784303
|
|
NM_000368.5(TSC1):c.1030-18A>G
|
|
|
NM_000368.5(TSC1):c.1030-19T>C
|
|
|
NM_000368.5(TSC1):c.1030-20G>A
|
|
|
NM_000368.5(TSC1):c.1030-20G>T
|
rs2131966081
|
|
NM_000368.5(TSC1):c.1030-2A>G
|
rs2131965369
|
|
NM_000368.5(TSC1):c.1030-3C>G
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-3C>T
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-4C>T
|
|
|
NM_000368.5(TSC1):c.1030-5C>G
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1030-5C>T
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1030-6T>A
|
rs1418175406
|
|
NM_000368.5(TSC1):c.1030-7T>C
|
|
|
NM_000368.5(TSC1):c.1030-8C>T
|
rs2131965605
|
|
NM_000368.5(TSC1):c.1030-9A>G
|
rs118203487
|
|
NM_000368.5(TSC1):c.1030G>C (p.Ala344Pro)
|
rs1845934367
|
|
NM_000368.5(TSC1):c.1030G>T (p.Ala344Ser)
|
rs1845934367
|
|
NM_000368.5(TSC1):c.1031C>G (p.Ala344Gly)
|
rs2131965142
|
|
NM_000368.5(TSC1):c.1032T>A (p.Ala344=)
|
|
|
NM_000368.5(TSC1):c.1032T>C (p.Ala344=)
|
rs2131965075
|
|
NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile)
|
rs1845934094
|
|
NM_000368.5(TSC1):c.1039T>A (p.Trp347Arg)
|
rs1175861603
|
|
NM_000368.5(TSC1):c.1039T>C (p.Trp347Arg)
|
rs1175861603
|
|
NM_000368.5(TSC1):c.1039T>G (p.Trp347Gly)
|
rs1175861603
|
|
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)
|
rs118203491
|
|
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys)
|
rs118203491
|
|
NM_000368.5(TSC1):c.1043G>T (p.Ser348Ile)
|
|
|
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg)
|
|
|
NM_000368.5(TSC1):c.1045C>T (p.Pro349Ser)
|
rs779767990
|
|
NM_000368.5(TSC1):c.1046C>A (p.Pro349Gln)
|
rs1554817268
|
|
NM_000368.5(TSC1):c.1047del (p.Ser350fs)
|
rs2131963896
|
|
NM_000368.5(TSC1):c.1052T>C (p.Met351Thr)
|
|
|
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)
|
rs796053447
|
|
NM_000368.5(TSC1):c.1054G>C (p.Val352Leu)
|
|
|
NM_000368.5(TSC1):c.1057dup (p.Cys353fs)
|
rs1845932297
|
|
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)
|
rs876660024
|
|
NM_000368.5(TSC1):c.1058G>C (p.Cys353Ser)
|
rs876660024
|
|
NM_000368.5(TSC1):c.105T>C (p.Ser35=)
|
rs1588363213
|
|
NM_000368.5(TSC1):c.106+10A>G
|
rs2132293220
|
|
NM_000368.5(TSC1):c.106+10del
|
|
|
NM_000368.5(TSC1):c.106+12A>G
|
|
|
NM_000368.5(TSC1):c.106+12A>T
|
|
|
NM_000368.5(TSC1):c.106+13A>C
|
|
|
NM_000368.5(TSC1):c.106+13_106+15del
|
|
|
NM_000368.5(TSC1):c.106+16T>C
|
|
|
NM_000368.5(TSC1):c.106+16T>G
|
|
|
NM_000368.5(TSC1):c.106+17C>A
|
|
|
NM_000368.5(TSC1):c.106+18C>A
|
|
|
NM_000368.5(TSC1):c.106+2T>C
|
rs1554820976
|
|
NM_000368.5(TSC1):c.106+3T>C
|
rs1847030488
|
|
NM_000368.5(TSC1):c.106+5G>A
|
rs1554820973
|
|
NM_000368.5(TSC1):c.106+6C>T
|
rs746774454
|
|
NM_000368.5(TSC1):c.106+9A>C
|
rs1554820969
|
|
NM_000368.5(TSC1):c.106+9A>G
|
rs1554820969
|
|
NM_000368.5(TSC1):c.1063A>G (p.Met355Val)
|
rs1302832406
|
|
NM_000368.5(TSC1):c.1065G>A (p.Met355Ile)
|
rs878853958
|
|
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile)
|
|
|
NM_000368.5(TSC1):c.1066A>G (p.Thr356Ala)
|
rs2131962146
|
|
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn)
|
rs1845931432
|
|
NM_000368.5(TSC1):c.106G>C (p.Asp36His)
|
rs1847030850
|
|
NM_000368.5(TSC1):c.107-12T>G
|
|
|
NM_000368.5(TSC1):c.107-13T>C
|
|
|
NM_000368.5(TSC1):c.107-14T>G
|
|
|
NM_000368.5(TSC1):c.107-16C>T
|
|
|
NM_000368.5(TSC1):c.107-19T>C
|
rs1284557941
|
|
NM_000368.5(TSC1):c.107-1G>A
|
rs1064793494
|
|
NM_000368.5(TSC1):c.107-20T>A
|
rs2132272238
|
|
NM_000368.5(TSC1):c.107-20T>C
|
|
|
NM_000368.5(TSC1):c.107-4T>A
|
|
|
NM_000368.5(TSC1):c.107-6A>G
|
|
|
NM_000368.5(TSC1):c.107-7G>A
|
rs775150962
|
|
NM_000368.5(TSC1):c.107-7_107-3dup
|
rs1588359972
|
|
NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser)
|
|
|
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu)
|
rs2131961651
|
|
NM_000368.5(TSC1):c.1073del (p.Pro358fs)
|
rs1554817259
|
|
NM_000368.5(TSC1):c.1078A>T (p.Thr360Ser)
|
rs201738258
|
|
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser)
|
rs118203493
|
|
NM_000368.5(TSC1):c.107A>C (p.Asp36Ala)
|
|
|
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly)
|
rs148468036
|
|
NM_000368.5(TSC1):c.107A>T (p.Asp36Val)
|
rs148468036
|
|
NM_000368.5(TSC1):c.1082C>G (p.Ser361Cys)
|
|
|
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del)
|
rs1554817252
|
|
NM_000368.5(TSC1):c.1085C>T (p.Pro362Leu)
|
rs2131960830
|
|
NM_000368.5(TSC1):c.1088G>A (p.Gly363Glu)
|
rs2131960613
|
|
NM_000368.5(TSC1):c.1089A>G (p.Gly363=)
|
rs2131960560
|
|
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala)
|
rs2131960121
|
|
NM_000368.5(TSC1):c.1095C>T (p.Val365=)
|
rs2131960043
|
|
NM_000368.5(TSC1):c.1096C>A (p.Pro366Thr)
|
|
|
NM_000368.5(TSC1):c.1096C>T (p.Pro366Ser)
|
rs1041988929
|
|
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.1102G>A (p.Asp368Asn)
|
|
|
NM_000368.5(TSC1):c.1102G>C (p.Asp368His)
|
rs2131959427
|
|
NM_000368.5(TSC1):c.1105C>G (p.Leu369Val)
|
rs118203496
|
|
NM_000368.5(TSC1):c.1107G>A (p.Leu369=)
|
rs909737447
|
|
NM_000368.5(TSC1):c.1107G>T (p.Leu369=)
|
rs909737447
|
|
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu)
|
rs796053457
|
|
NM_000368.5(TSC1):c.1110A>C (p.Ser370=)
|
rs371648887
|
|
NM_000368.5(TSC1):c.1113C>A (p.His371Gln)
|
rs771217333
|
|
NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter)
|
|
|
NM_000368.5(TSC1):c.1119C>T (p.Tyr373=)
|
|
|
NM_000368.5(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer)
|
rs1588322764
|
|
NM_000368.5(TSC1):c.1120A>G (p.Ser374Gly)
|
rs2131957774
|
|
NM_000368.5(TSC1):c.1121G>A (p.Ser374Asn)
|
rs1564488001
|
|
NM_000368.5(TSC1):c.1123A>G (p.Lys375Glu)
|
rs1564487989
|
|
NM_000368.5(TSC1):c.1125A>T (p.Lys375Asn)
|
rs2131957415
|
|
NM_000368.5(TSC1):c.1127T>A (p.Val376Asp)
|
rs1588322703
|
|
NM_000368.5(TSC1):c.1128C>G (p.Val376=)
|
rs1419093686
|
|
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu)
|
rs1845926660
|
|
NM_000368.5(TSC1):c.112G>T (p.Gly38Cys)
|
rs1846929239
|
|
NM_000368.5(TSC1):c.1130_1131del (p.Phe377fs)
|
rs1554817222
|
|
NM_000368.5(TSC1):c.1133G>A (p.Gly378Asp)
|
|
|
NM_000368.5(TSC1):c.1136C>T (p.Thr379Ile)
|
rs1060503193
|
|
NM_000368.5(TSC1):c.1137A>T (p.Thr379=)
|
rs2131956465
|
|
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala)
|
rs1060503216
|
|
NM_000368.5(TSC1):c.1138_1141+1del
|
|
|
NM_000368.5(TSC1):c.1139C>T (p.Thr380Ile)
|
rs1064796512
|
|
NM_000368.5(TSC1):c.113_114delinsAT (p.Gly38Asp)
|
|
|
NM_000368.5(TSC1):c.1141+11C>A
|
|
|
NM_000368.5(TSC1):c.1141+12_1141+13insG
|
|
|
NM_000368.5(TSC1):c.1141+14A>G
|
|
|
NM_000368.5(TSC1):c.1141+15_1141+23del
|
|
|
NM_000368.5(TSC1):c.1141+16G>A
|
rs2131955589
|
|
NM_000368.5(TSC1):c.1141+16G>T
|
|
|
NM_000368.5(TSC1):c.1141+18T>G
|
|
|
NM_000368.5(TSC1):c.1141+19G>C
|
rs772553802
|
|
NM_000368.5(TSC1):c.1141+1G>A
|
rs397514819
|
|
NM_000368.5(TSC1):c.1141+3A>G
|
|
|
NM_000368.5(TSC1):c.1141+4T>C
|
|
|
NM_000368.5(TSC1):c.1141+5G>A
|
rs1845924784
|
|
NM_000368.5(TSC1):c.1141+7A>C
|
|
|
NM_000368.5(TSC1):c.1141+9G>A
|
|
|
NM_000368.5(TSC1):c.1141+9G>T
|
rs2131955840
|
|
NM_000368.5(TSC1):c.1142-10T>C
|
|
|
NM_000368.5(TSC1):c.1142-11T>C
|
|
|
NM_000368.5(TSC1):c.1142-12C>A
|
rs1845908709
|
|
NM_000368.5(TSC1):c.1142-16del
|
|
|
NM_000368.5(TSC1):c.1142-17C>T
|
rs1845909117
|
|
NM_000368.5(TSC1):c.1142-9G>A
|
rs1554817169
|
|
NM_000368.5(TSC1):c.1142-9G>C
|
rs1554817169
|
|
NM_000368.5(TSC1):c.1142C>G (p.Ala381Gly)
|
|
|
NM_000368.5(TSC1):c.1143A>G (p.Ala381=)
|
rs2131948061
|
|
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp)
|
rs1460150475
|
|
NM_000368.5(TSC1):c.1148G>A (p.Gly383Glu)
|
rs1554817166
|
|
NM_000368.5(TSC1):c.114C>T (p.Gly38=)
|
|
|
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg)
|
rs1845907002
|
|
NM_000368.5(TSC1):c.1153G>A (p.Gly385Arg)
|
rs2131947237
|
|
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro)
|
|
|
NM_000368.5(TSC1):c.1156del (p.Thr386fs)
|
rs2131946983
|
|
NM_000368.5(TSC1):c.1157C>A (p.Thr386Asn)
|
rs1845906487
|
|
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
|
|
|
NM_000368.5(TSC1):c.115C>G (p.Pro39Ala)
|
rs1588359851
|
|
NM_000368.5(TSC1):c.1160C>T (p.Pro387Leu)
|
|
|
NM_000368.5(TSC1):c.1161T>C (p.Pro387=)
|
|
|
NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs)
|
rs1064793844
|
|
NM_000368.5(TSC1):c.1165G>A (p.Gly389Arg)
|
|
|
NM_000368.5(TSC1):c.1167A>C (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.1167A>G (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.1167A>T (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.116C>G (p.Pro39Arg)
|
rs770831962
|
|
NM_000368.5(TSC1):c.116C>T (p.Pro39Leu)
|
|
|
NM_000368.5(TSC1):c.116del (p.Pro39fs)
|
|
|
NM_000368.5(TSC1):c.1172del (p.Pro391fs)
|
rs2131945572
|
|
NM_000368.5(TSC1):c.1173A>G (p.Pro391=)
|
rs2131945460
|
|
NM_000368.5(TSC1):c.1177A>G (p.Thr393Ala)
|
|
|
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser)
|
rs1845904791
|
|
NM_000368.5(TSC1):c.1178C>A (p.Thr393Asn)
|
rs201452238
|
|
NM_000368.5(TSC1):c.1179C>G (p.Thr393=)
|
|
|
NM_000368.5(TSC1):c.1179C>T (p.Thr393=)
|
rs2131944935
|
|
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup)
|
rs1845904104
|
|
NM_000368.5(TSC1):c.1183C>G (p.Pro395Ala)
|
|
|
NM_000368.5(TSC1):c.1183C>T (p.Pro395Ser)
|
rs1845904525
|
|
NM_000368.5(TSC1):c.1184C>T (p.Pro395Leu)
|
rs1845904421
|
|
NM_000368.5(TSC1):c.1186C>A (p.Pro396Thr)
|
|
|
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser)
|
rs1845904238
|
|
NM_000368.5(TSC1):c.1189C>G (p.Pro397Ala)
|
|
|
NM_000368.5(TSC1):c.1192del (p.Ala398fs)
|
rs2131943928
|
|
NM_000368.5(TSC1):c.1194C>G (p.Ala398=)
|
rs1060504861
|
|
NM_000368.5(TSC1):c.1195C>G (p.Pro399Ala)
|
rs1060503211
|
|
NM_000368.5(TSC1):c.1195C>T (p.Pro399Ser)
|
rs1060503211
|
|
NM_000368.5(TSC1):c.1197A>C (p.Pro399=)
|
rs2131943425
|
|
NM_000368.5(TSC1):c.1197A>G (p.Pro399=)
|
rs2131943425
|
|
NM_000368.5(TSC1):c.1197A>T (p.Pro399=)
|
rs2131943425
|
|
NM_000368.5(TSC1):c.1198C>G (p.Leu400Val)
|
|
|
NM_000368.5(TSC1):c.1198C>T (p.Leu400Phe)
|
rs773160913
|
|
NM_000368.5(TSC1):c.11A>C (p.Gln4Pro)
|
|
|
NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs)
|
rs1554817140
|
|
NM_000368.5(TSC1):c.1201del (p.Cys401fs)
|
rs2131943046
|
|
NM_000368.5(TSC1):c.1202G>A (p.Cys401Tyr)
|
rs2131942881
|
|
NM_000368.5(TSC1):c.1206T>A (p.His402Gln)
|
rs1845902050
|
|
NM_000368.5(TSC1):c.1206T>C (p.His402=)
|
rs1845902050
|
|
NM_000368.5(TSC1):c.1207T>G (p.Ser403Ala)
|
rs1845901815
|
|
NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter)
|
rs118203504
|
|
NM_000368.5(TSC1):c.1209G>C (p.Ser403=)
|
|
|
NM_000368.5(TSC1):c.1209G>T (p.Ser403=)
|
rs141184479
|
|
NM_000368.5(TSC1):c.120G>A (p.Met40Ile)
|
rs1480174819
|
|
NM_000368.5(TSC1):c.1210G>T (p.Asp404Tyr)
|
rs1845900843
|
|
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val)
|
rs1554817130
|
|
NM_000368.5(TSC1):c.1212T>C (p.Asp404=)
|
rs2131941843
|
|
NM_000368.5(TSC1):c.1215C>G (p.Asp405Glu)
|
rs2131941639
|
|
NM_000368.5(TSC1):c.1216T>C (p.Tyr406His)
|
rs1554817128
|
|
NM_000368.5(TSC1):c.1219G>C (p.Val407Leu)
|
rs769331772
|
|
NM_000368.5(TSC1):c.1219G>T (p.Val407Leu)
|
rs769331772
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.1223A>C (p.His408Pro)
|
rs1554817122
|
|
NM_000368.5(TSC1):c.1223A>G (p.His408Arg)
|
rs1554817122
|
|
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
|
|
|
NM_000368.5(TSC1):c.1226T>C (p.Ile409Thr)
|
rs1474143751
|
|
NM_000368.5(TSC1):c.1228del (p.Ser410fs)
|
rs1845899274
|
|
NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter)
|
|
|
NM_000368.5(TSC1):c.1229C>T (p.Ser410Leu)
|
rs1564487289
|
|
NM_000368.5(TSC1):c.1230A>C (p.Ser410=)
|
rs2131940277
|
|
NM_000368.5(TSC1):c.1231C>G (p.Leu411Val)
|
rs397514840
|
|
NM_000368.5(TSC1):c.1231C>T (p.Leu411Phe)
|
rs397514840
|
|
NM_000368.5(TSC1):c.1232T>C (p.Leu411Pro)
|
|
|
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr)
|
rs2131939930
|
|
NM_000368.5(TSC1):c.1234C>T (p.Pro412Ser)
|
|
|
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu)
|
rs1845897946
|
|
NM_000368.5(TSC1):c.1236C>T (p.Pro412=)
|
rs1588321355
|
|
NM_000368.5(TSC1):c.1237del (p.Gln413fs)
|
rs1588321344
|
|
NM_000368.5(TSC1):c.1238A>C (p.Gln413Pro)
|
|
|
NM_000368.5(TSC1):c.1239G>C (p.Gln413His)
|
rs786203715
|
|
NM_000368.5(TSC1):c.123T>A (p.Leu41=)
|
rs1846926807
|
|
NM_000368.5(TSC1):c.1245A>G (p.Thr415=)
|
rs2131939065
|
|
NM_000368.5(TSC1):c.1246G>T (p.Val416Phe)
|
|
|
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp)
|
|
|
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)
|
rs77464996
|
|
NM_000368.5(TSC1):c.1250del (p.Thr417fs)
|
rs397514778
|
|
NM_000368.5(TSC1):c.1252C>A (p.Pro418Thr)
|
rs1845895299
|
|
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala)
|
rs1845895299
|
|
NM_000368.5(TSC1):c.1252C>T (p.Pro418Ser)
|
rs1845895299
|
|
NM_000368.5(TSC1):c.1253C>G (p.Pro418Arg)
|
rs997339959
|
|
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu)
|
|
|
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
|
|
|
NM_000368.5(TSC1):c.1255C>G (p.Pro419Ala)
|
rs765145057
|
|
NM_000368.5(TSC1):c.1255C>T (p.Pro419Ser)
|
rs765145057
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1257C>A (p.Pro419=)
|
rs369642207
|
|
NM_000368.5(TSC1):c.1257C>T (p.Pro419=)
|
rs369642207
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1257dup (p.Arg420fs)
|
|
|
NM_000368.5(TSC1):c.1258A>G (p.Arg420Gly)
|
rs1554817078
|
|
NM_000368.5(TSC1):c.125T>A (p.Val42Glu)
|
rs1846926218
|
|
NM_000368.5(TSC1):c.1260G>A (p.Arg420=)
|
|
|
NM_000368.5(TSC1):c.1263+17C>T
|
|
|
NM_000368.5(TSC1):c.1263+18T>C
|
|
|
NM_000368.5(TSC1):c.1263+4C>T
|
rs1554817077
|
|
NM_000368.5(TSC1):c.1263+7T>C
|
|
|
NM_000368.5(TSC1):c.1263+8C>A
|
|
|
NM_000368.5(TSC1):c.1263+8C>T
|
|
|
NM_000368.5(TSC1):c.1264-10A>G
|
rs994736836
|
|
NM_000368.5(TSC1):c.1264-13C>A
|
|
|
NM_000368.5(TSC1):c.1264-16A>G
|
rs2131883904
|
|
NM_000368.5(TSC1):c.1264-16A>T
|
|
|
NM_000368.5(TSC1):c.1264-17G>T
|
rs1845730385
|
|
NM_000368.5(TSC1):c.1264-1G>A
|
rs1554816432
|
|
NM_000368.5(TSC1):c.1264-3C>A
|
rs1194717065
|
|
NM_000368.5(TSC1):c.1264-3C>T
|
rs1194717065
|
|
NM_000368.5(TSC1):c.1264-6T>A
|
rs370778877
|
|
NM_000368.5(TSC1):c.1264-6T>C
|
rs370778877
|
|
NM_000368.5(TSC1):c.1264-8C>T
|
|
|
NM_000368.5(TSC1):c.1264G>A (p.Glu422Lys)
|
rs1845729073
|
|
NM_000368.5(TSC1):c.1265A>G (p.Glu422Gly)
|
rs2131883216
|
|
NM_000368.5(TSC1):c.1267G>A (p.Glu423Lys)
|
|
|
NM_000368.5(TSC1):c.1269G>A (p.Glu423=)
|
rs1272450087
|
|
NM_000368.5(TSC1):c.126A>G (p.Val42=)
|
|
|
NM_000368.5(TSC1):c.1270A>C (p.Arg424=)
|
rs1845728736
|
|
NM_000368.5(TSC1):c.1270A>T (p.Arg424Ter)
|
|
|
NM_000368.5(TSC1):c.1271G>A (p.Arg424Lys)
|
|
|
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)
|
rs118203509
|
|
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg)
|
|
|
NM_000368.5(TSC1):c.1275G>A (p.Met425Ile)
|
rs2131882532
|
|
NM_000368.5(TSC1):c.1279T>G (p.Ser427Ala)
|
|
|
NM_000368.5(TSC1):c.1279del (p.Ser427fs)
|
rs118203510
|
|
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)
|
rs587778721
|
|
NM_000368.5(TSC1):c.1285_1298del (p.Arg429fs)
|
rs2131880971
|
|
NM_000368.5(TSC1):c.1286G>C (p.Arg429Thr)
|
rs1845727586
|
|
NM_000368.5(TSC1):c.1288C>A (p.Pro430Thr)
|
|
|
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu)
|
rs1845727308
|
|
NM_000368.5(TSC1):c.1289_1290insGCGCGGACC (p.Pro430_Cys431insArgGlyPro)
|
rs1554816418
|
|
NM_000368.5(TSC1):c.1290A>T (p.Pro430=)
|
|
|
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)
|
rs762688935
|
|
NM_000368.5(TSC1):c.1296A>C (p.Leu432=)
|
rs1554816406
|
|
NM_000368.5(TSC1):c.1297C>A (p.His433Asn)
|
|
|
NM_000368.5(TSC1):c.1297C>T (p.His433Tyr)
|
|
|
NM_000368.5(TSC1):c.1298A>G (p.His433Arg)
|
rs1554816403
|
|
NM_000368.5(TSC1):c.1299C>G (p.His433Gln)
|
rs1275474831
|
|
NM_000368.5(TSC1):c.1299C>T (p.His433=)
|
|
|
NM_000368.5(TSC1):c.129C>T (p.Asn43=)
|
rs2132270030
|
|
NM_000368.5(TSC1):c.129delinsAA (p.Asn43fs)
|
|
|
NM_000368.5(TSC1):c.12A>G (p.Gln4=)
|
rs1588363707
|
|
NM_000368.5(TSC1):c.12A>T (p.Gln4His)
|
|
|
NM_000368.5(TSC1):c.1301dup (p.Gln435fs)
|
rs1554816394
|
|
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg)
|
rs2131880323
|
|
NM_000368.5(TSC1):c.1305A>C (p.Gln435His)
|
rs1334781311
|
|
NM_000368.5(TSC1):c.1306C>T (p.His436Tyr)
|
rs1845725716
|
|
NM_000368.5(TSC1):c.1308C>A (p.His436Gln)
|
|
|
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr)
|
rs985183299
|
|
NM_000368.5(TSC1):c.1309dup (p.His437fs)
|
|
|
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser)
|
rs1399266964
|
|
NM_000368.5(TSC1):c.1311TCT[1] (p.Leu439del)
|
|
|
NM_000368.5(TSC1):c.1312C>T (p.Leu438Phe)
|
|
|
NM_000368.5(TSC1):c.1317G>T (p.Leu439=)
|
|
|
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser)
|
rs2131879422
|
|
NM_000368.5(TSC1):c.1323C>T (p.Asp441=)
|
rs2131879178
|
|
NM_000368.5(TSC1):c.1324A>G (p.Arg442Gly)
|
rs1845724649
|
|
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)
|
rs1845724649
|
|
NM_000368.5(TSC1):c.1325G>A (p.Arg442Lys)
|
|
|
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.1329A>G (p.Gly443=)
|
|
|
NM_000368.5(TSC1):c.1329A>T (p.Gly443=)
|
|
|
NM_000368.5(TSC1):c.132C>T (p.Thr44=)
|
rs2132269698
|
|
NM_000368.5(TSC1):c.1330T>A (p.Ser444Thr)
|
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
NM_000368.5(TSC1):c.1333+12G>A
|
|
|
NM_000368.5(TSC1):c.1333+14G>T
|
|
|
NM_000368.5(TSC1):c.1333+20A>G
|
rs755910753
|
|
NM_000368.5(TSC1):c.1333+6A>T
|
|
|
NM_000368.5(TSC1):c.1333+6del
|
rs1060503212
|
|
NM_000368.5(TSC1):c.1333+7T>A
|
rs1588313945
|
|
NM_000368.5(TSC1):c.1333+9T>A
|
rs747629498
|
|
NM_000368.5(TSC1):c.1333+9T>C
|
rs747629498
|
|
NM_000368.5(TSC1):c.1334-14_1334-13del
|
rs2131869840
|
|
NM_000368.5(TSC1):c.1334-19T>G
|
|
|
NM_000368.5(TSC1):c.1334-20T>C
|
rs1373490108
|
|
NM_000368.5(TSC1):c.1334-20T>G
|
|
|
NM_000368.5(TSC1):c.1334-30_1344del
|
|
|
NM_000368.5(TSC1):c.1334-3C>T
|
rs766782582
|
|
NM_000368.5(TSC1):c.1334A>G (p.Glu445Gly)
|
rs2131869266
|
|
NM_000368.5(TSC1):c.1336G>T (p.Glu446Ter)
|
rs1845700817
|
|
NM_000368.5(TSC1):c.1338G>A (p.Glu446=)
|
rs1410493156
|
|
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala)
|
rs1588313030
|
|
NM_000368.5(TSC1):c.133T>G (p.Leu45Val)
|
rs755226092
|
|
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu)
|
rs772868048
|
|
NM_000368.5(TSC1):c.1342C>A (p.Pro448Thr)
|
rs118203518
|
|
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu)
|
rs397514848
|
|
NM_000368.5(TSC1):c.1344T>C (p.Pro448=)
|
rs530908428
|
|
NM_000368.5(TSC1):c.1344del (p.Gly449fs)
|
|
|
NM_000368.5(TSC1):c.1345G>A (p.Gly449Ser)
|
|
|
NM_000368.5(TSC1):c.1347C>A (p.Gly449=)
|
rs1588312954
|
|
NM_000368.5(TSC1):c.1347C>T (p.Gly449=)
|
|
|
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.1351A>C (p.Lys451Gln)
|
|
|
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp)
|
rs371093730
|
|
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe)
|
rs1271797824
|
|
NM_000368.5(TSC1):c.1359T>C (p.Ser453=)
|
rs1468470312
|
|
NM_000368.5(TSC1):c.1361T>C (p.Val454Ala)
|
rs2131867114
|
|
NM_000368.5(TSC1):c.1364C>G (p.Thr455Ser)
|
|
|
NM_000368.5(TSC1):c.1367dup (p.Ser457fs)
|
rs1554816245
|
|
NM_000368.5(TSC1):c.1368A>C (p.Leu456=)
|
rs397514856
|
|
NM_000368.5(TSC1):c.1368A>G (p.Leu456=)
|
rs397514856
|
|
NM_000368.5(TSC1):c.1369del (p.Ser457fs)
|
rs118203523
|
|
NM_000368.5(TSC1):c.1370G>A (p.Ser457Asn)
|
rs2131866202
|
|
NM_000368.5(TSC1):c.1372G>C (p.Asp458His)
|
rs2131866030
|
|
NM_000368.5(TSC1):c.1374T>A (p.Asp458Glu)
|
rs2131865879
|
|
NM_000368.5(TSC1):c.1376T>A (p.Leu459His)
|
rs1554816231
|
|
NM_000368.5(TSC1):c.1379del (p.Pro460fs)
|
rs118203525
|
|
NM_000368.5(TSC1):c.1381G>A (p.Gly461Arg)
|
|
|
NM_000368.5(TSC1):c.1382_1385del (p.Gly461fs)
|
rs2131865150
|
|
NM_000368.5(TSC1):c.1383G>A (p.Gly461=)
|
|
|
NM_000368.5(TSC1):c.1388dup (p.Leu463fs)
|
rs1064796237
|
|
NM_000368.5(TSC1):c.1389del (p.Gly464fs)
|
rs1588312765
|
|
NM_000368.5(TSC1):c.1390G>A (p.Gly464Ser)
|
|
|
NM_000368.5(TSC1):c.1391G>A (p.Gly464Asp)
|
rs1845696020
|
|
NM_000368.5(TSC1):c.1392T>C (p.Gly464=)
|
rs1588312747
|
|
NM_000368.5(TSC1):c.1396C>T (p.Leu466=)
|
rs2131864374
|
|
NM_000368.5(TSC1):c.139del (p.Asp47fs)
|
rs2132269239
|
|
NM_000368.5(TSC1):c.13G>A (p.Ala5Thr)
|
rs2132297148
|
|
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys)
|
rs1845695519
|
|
NM_000368.5(TSC1):c.1403C>T (p.Ser468Phe)
|
rs1845695519
|
|
NM_000368.5(TSC1):c.1404T>C (p.Ser468=)
|
|
|
NM_000368.5(TSC1):c.1405G>A (p.Glu469Lys)
|
rs2131863649
|
|
NM_000368.5(TSC1):c.1407A>G (p.Glu469=)
|
rs1272855447
|
|
NM_000368.5(TSC1):c.1407AGA[1] (p.Glu470del)
|
rs1564483296
|
|
NM_000368.5(TSC1):c.140_146del (p.Asp47fs)
|
|
|
NM_000368.5(TSC1):c.1410A>G (p.Glu470=)
|
rs2131863384
|
|
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val)
|
rs2131863099
|
|
NM_000368.5(TSC1):c.1412del (p.Asp471fs)
|
rs2131863156
|
|
NM_000368.5(TSC1):c.1413T>C (p.Asp471=)
|
rs1588312706
|
|
NM_000368.5(TSC1):c.1414A>G (p.Ser472Gly)
|
|
|
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn)
|
rs1203620977
|
|
NM_000368.5(TSC1):c.1415G>C (p.Ser472Thr)
|
rs1203620977
|
|
NM_000368.5(TSC1):c.1418T>G (p.Ile473Ser)
|
|
|
NM_000368.5(TSC1):c.141T>G (p.Asp47Glu)
|
|
|
NM_000368.5(TSC1):c.1420G>C (p.Glu474Gln)
|
rs2131862581
|
|
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg)
|
rs2131862407
|
|
NM_000368.5(TSC1):c.1426G>A (p.Asp476Asn)
|
|
|
NM_000368.5(TSC1):c.1429A>G (p.Lys477Glu)
|
|
|
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)
|
rs1554816213
|
|
NM_000368.5(TSC1):c.1430AAG[2] (p.Glu479del)
|
rs1233867963
|
|
NM_000368.5(TSC1):c.1431A>G (p.Lys477=)
|
rs2131862006
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1432G>T (p.Glu478Ter)
|
rs1393065957
|
|
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly)
|
rs118203529
|
|
NM_000368.5(TSC1):c.1438+12G>A
|
rs1845690448
|
|
NM_000368.5(TSC1):c.1438+14G>A
|
|
|
NM_000368.5(TSC1):c.1438+14G>C
|
|
|
NM_000368.5(TSC1):c.1438+14G>T
|
|
|
NM_000368.5(TSC1):c.1438+14del
|
rs2131860823
|
|
NM_000368.5(TSC1):c.1438+19C>T
|
|
|
NM_000368.5(TSC1):c.1438+5T>C
|
rs1060503215
|
|
NM_000368.5(TSC1):c.1438+8A>G
|
rs1588312550
|
|
NM_000368.5(TSC1):c.1438+9T>C
|
|
|
NM_000368.5(TSC1):c.1439-10T>C
|
|
|
NM_000368.5(TSC1):c.1439-10_1439-3del
|
rs753878222
|
|
NM_000368.5(TSC1):c.1439-11C>T
|
|
|
NM_000368.5(TSC1):c.1439-13del
|
rs2131851882
|
|
NM_000368.5(TSC1):c.1439-15C>G
|
|
|
NM_000368.5(TSC1):c.1439-15CT[2]
|
|
|
NM_000368.5(TSC1):c.1439-1G>A
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-1G>C
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-20G>C
|
|
|
NM_000368.5(TSC1):c.1439-20_1439-9del
|
rs1064792996
|
|
NM_000368.5(TSC1):c.1439-2A>G
|
rs118203531
|
|
NM_000368.5(TSC1):c.1439-3C>T
|
rs2131851362
|
|
NM_000368.5(TSC1):c.1439-5C>T
|
rs2131851498
|
|
NM_000368.5(TSC1):c.1439-6T>G
|
rs1845661202
|
|
NM_000368.5(TSC1):c.1439-7C>A
|
rs1588311354
|
|
NM_000368.5(TSC1):c.1439-7C>T
|
rs1588311354
|
|
NM_000368.5(TSC1):c.143A>G (p.Tyr48Cys)
|
|
|
NM_000368.5(TSC1):c.1442C>A (p.Ala481Glu)
|
|
|
NM_000368.5(TSC1):c.1442C>T (p.Ala481Val)
|
rs775367219
|
|
NM_000368.5(TSC1):c.1443A>C (p.Ala481=)
|
rs1554816081
|
|
NM_000368.5(TSC1):c.1443A>G (p.Ala481=)
|
rs1554816081
|
|
NM_000368.5(TSC1):c.1445T>C (p.Ile482Thr)
|
|
|
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met)
|
rs1845658834
|
|
NM_000368.5(TSC1):c.1446_1447del (p.Ile482_Ser483insTer)
|
rs1554816076
|
|
NM_000368.5(TSC1):c.1448C>T (p.Ser483Phe)
|
rs1588311235
|
|
NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter)
|
|
|
NM_000368.5(TSC1):c.1450A>T (p.Arg484Ter)
|
rs2131850310
|
|
NM_000368.5(TSC1):c.1451G>A (p.Arg484Lys)
|
|
|
NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter)
|
rs1564482622
|
|
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val)
|
rs2131850010
|
|
NM_000368.5(TSC1):c.1459T>C (p.Ser487Pro)
|
|
|
NM_000368.5(TSC1):c.1460C>A (p.Ser487Tyr)
|
rs118203532
|
|
NM_000368.5(TSC1):c.1461T>C (p.Ser487=)
|
rs2131849603
|
|
NM_000368.5(TSC1):c.1464G>A (p.Glu488=)
|
rs1588311193
|
|
NM_000368.5(TSC1):c.1464G>C (p.Glu488Asp)
|
|
|
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe)
|
rs1564482602
|
|
NM_000368.5(TSC1):c.1467C>T (p.Ile489=)
|
rs2131849203
|
|
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del)
|
rs1554816071
|
|
NM_000368.5(TSC1):c.1469C>A (p.Thr490Asn)
|
|
|
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile)
|
rs1564482593
|
|
NM_000368.5(TSC1):c.146A>G (p.Tyr49Cys)
|
|
|
NM_000368.5(TSC1):c.146A>T (p.Tyr49Phe)
|
|
|
NM_000368.5(TSC1):c.146del (p.Tyr49fs)
|
rs397514861
|
|
NM_000368.5(TSC1):c.1470C>A (p.Thr490=)
|
rs2131848951
|
|
NM_000368.5(TSC1):c.1472C>G (p.Thr491Arg)
|
|
|
NM_000368.5(TSC1):c.1472C>T (p.Thr491Ile)
|
rs1554816070
|
|
NM_000368.5(TSC1):c.1473A>C (p.Thr491=)
|
rs1588311152
|
|
NM_000368.5(TSC1):c.1473A>G (p.Thr491=)
|
rs1588311152
|
|
NM_000368.5(TSC1):c.1475C>T (p.Ala492Val)
|
|
|
NM_000368.5(TSC1):c.1476A>C (p.Ala492=)
|
rs1554816067
|
|
NM_000368.5(TSC1):c.1477G>C (p.Glu493Gln)
|
|
|
NM_000368.5(TSC1):c.1479G>C (p.Glu493Asp)
|
|
|
NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter)
|
rs2132268804
|
|
NM_000368.5(TSC1):c.147C>T (p.Tyr49=)
|
rs2132268804
|
|
NM_000368.5(TSC1):c.147_157del (p.Tyr49_Ser53delinsTer)
|
|
|
NM_000368.5(TSC1):c.1480G>A (p.Ala494Thr)
|
rs1845656527
|
|
NM_000368.5(TSC1):c.1480del (p.Ala494fs)
|
|
|
NM_000368.5(TSC1):c.1481C>G (p.Ala494Gly)
|
|
|
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val)
|
|
|
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
|
|
|
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys)
|
rs1845656110
|
|
NM_000368.5(TSC1):c.1486_1504del (p.Pro496fs)
|
rs1845654716
|
|
NM_000368.5(TSC1):c.1487C>T (p.Pro496Leu)
|
|
|
NM_000368.5(TSC1):c.1488T>C (p.Pro496=)
|
rs2131847678
|
|
NM_000368.5(TSC1):c.1489G>A (p.Val497Met)
|
rs946491568
|
|
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu)
|
rs946491568
|
|
NM_000368.5(TSC1):c.148C>G (p.Leu50Val)
|
rs2132268675
|
|
NM_000368.5(TSC1):c.1491G>A (p.Val497=)
|
rs1554816056
|
|
NM_000368.5(TSC1):c.1491_1493dup (p.Val498_Pro499insVal)
|
|
|
NM_000368.5(TSC1):c.1492G>A (p.Val498Ile)
|
|
|
NM_000368.5(TSC1):c.1497T>G (p.Pro499=)
|
rs1588311053
|
|
NM_000368.5(TSC1):c.1498C>A (p.Arg500=)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln)
|
rs118203538
|
|
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro)
|
rs118203341
|
|
NM_000368.5(TSC1):c.1503A>C (p.Gly501=)
|
rs201810746
|
|
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
|
|
|
NM_000368.5(TSC1):c.1514C>G (p.Ser505Cys)
|
rs2131845783
|
|
NM_000368.5(TSC1):c.1515_1516del (p.Pro506fs)
|
rs281875358
|
|
NM_000368.5(TSC1):c.1516C>A (p.Pro506Thr)
|
rs2131845533
|
|
NM_000368.5(TSC1):c.1517C>A (p.Pro506His)
|
rs2131845442
|
|
NM_000368.5(TSC1):c.1518C>A (p.Pro506=)
|
|
|
NM_000368.5(TSC1):c.1518C>G (p.Pro506=)
|
rs1588310935
|
|
NM_000368.5(TSC1):c.1518C>T (p.Pro506=)
|
rs1588310935
|
|
NM_000368.5(TSC1):c.1518del (p.Tyr508fs)
|
rs1060503210
|
|
NM_000368.5(TSC1):c.151G>C (p.Glu51Gln)
|
|
|
NM_000368.5(TSC1):c.1522T>C (p.Tyr508His)
|
|
|
NM_000368.5(TSC1):c.1523A>G (p.Tyr508Cys)
|
rs1845653443
|
|
NM_000368.5(TSC1):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1526G>T (p.Arg509Leu)
|
|
|
NM_000368.5(TSC1):c.1527A>C (p.Arg509=)
|
rs2131844667
|
|
NM_000368.5(TSC1):c.1527del (p.Asp510fs)
|
rs1845652716
|
|
NM_000368.5(TSC1):c.1530C>T (p.Asp510=)
|
rs1554816033
|
|
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs)
|
rs118203544
|
|
NM_000368.5(TSC1):c.1531A>G (p.Ser511Gly)
|
|
|
NM_000368.5(TSC1):c.1531dup (p.Ser511fs)
|
rs1845652182
|
|
NM_000368.5(TSC1):c.1533T>C (p.Ser511=)
|
rs1588310849
|
|
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe)
|
|
|
NM_000368.5(TSC1):c.1535_1536dup (p.Pro513fs)
|
|
|
NM_000368.5(TSC1):c.1536C>T (p.Leu512=)
|
rs1264512400
|
|
NM_000368.5(TSC1):c.1538_1997+108del
|
|
|
NM_000368.5(TSC1):c.1539A>T (p.Pro513=)
|
|
|
NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp)
|
rs1564482313
|
|
NM_000368.5(TSC1):c.1541_1549delinsTG (p.Gly514fs)
|
rs1564482288
|
|
NM_000368.5(TSC1):c.1542T>G (p.Gly514=)
|
rs2131843378
|
|
NM_000368.5(TSC1):c.1546C>G (p.Gln516Glu)
|
|
|
NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter)
|
rs1588310754
|
|
NM_000368.5(TSC1):c.1548G>A (p.Gln516=)
|
|
|
NM_000368.5(TSC1):c.1548del (p.Gln516fs)
|
|
|
NM_000368.5(TSC1):c.1549C>A (p.Arg517=)
|
rs1243886871
|
|
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp)
|
rs1243886871
|
|
NM_000368.5(TSC1):c.1557C>G (p.Thr519=)
|
rs2131842231
|
|
NM_000368.5(TSC1):c.1558C>A (p.His520Asn)
|
|
|
NM_000368.5(TSC1):c.1558C>T (p.His520Tyr)
|
rs1845649293
|
|
NM_000368.5(TSC1):c.1562C>G (p.Ser521Trp)
|
rs759379027
|
|
NM_000368.5(TSC1):c.1563G>A (p.Ser521=)
|
rs1554816005
|
|
NM_000368.5(TSC1):c.1563G>C (p.Ser521=)
|
rs1554816005
|
|
NM_000368.5(TSC1):c.1565C>G (p.Ala522Gly)
|
rs1845647948
|
|
NM_000368.5(TSC1):c.1565C>T (p.Ala522Val)
|
rs1845647948
|
|
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr)
|
rs118203548
|
|
NM_000368.5(TSC1):c.1569C>T (p.Ala523=)
|
rs1234835402
|
|
NM_000368.5(TSC1):c.156C>A (p.Thr52=)
|
rs1564503304
|
|
NM_000368.5(TSC1):c.156C>G (p.Thr52=)
|
rs1564503304
|
|
NM_000368.5(TSC1):c.156C>T (p.Thr52=)
|
rs1564503304
|
|
NM_000368.5(TSC1):c.1570T>G (p.Ser524Ala)
|
|
|
NM_000368.5(TSC1):c.1572C>G (p.Ser524=)
|
rs397514810
|
|
NM_000368.5(TSC1):c.1573A>C (p.Ser525Arg)
|
rs1845647074
|
|
NM_000368.5(TSC1):c.1573A>G (p.Ser525Gly)
|
rs1845647074
|
|
NM_000368.5(TSC1):c.1573A>T (p.Ser525Cys)
|
|
|
NM_000368.5(TSC1):c.1574G>A (p.Ser525Asn)
|
rs750784794
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.157A>G (p.Ser53Gly)
|
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1581G>A (p.Gln527=)
|
rs1554815989
|
|
NM_000368.5(TSC1):c.1581G>C (p.Gln527His)
|
rs1554815989
|
|
NM_000368.5(TSC1):c.1582G>A (p.Gly528Ser)
|
rs1845645876
|
|
NM_000368.5(TSC1):c.1582G>T (p.Gly528Cys)
|
rs1845645876
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
NM_000368.5(TSC1):c.1584C>G (p.Gly528=)
|
|
|
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser)
|
rs751125011
|
|
NM_000368.5(TSC1):c.1586C>T (p.Ala529Val)
|
rs1845645423
|
|
NM_000368.5(TSC1):c.1589G>A (p.Ser530Asn)
|
rs368481360
|
|
NM_000368.5(TSC1):c.158G>A (p.Ser53Asn)
|
rs1588359592
|
|
NM_000368.5(TSC1):c.1591G>T (p.Val531Leu)
|
rs377279170
|
|
NM_000368.5(TSC1):c.1595A>G (p.Asn532Ser)
|
|
|
NM_000368.5(TSC1):c.1597C>G (p.Pro533Ala)
|
rs1331420425
|
|
NM_000368.5(TSC1):c.1598del (p.Pro533fs)
|
|
|
NM_000368.5(TSC1):c.159C>T (p.Ser53=)
|
rs756335238
|
|
NM_000368.5(TSC1):c.15A>G (p.Ala5=)
|
|
|
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys)
|
rs796053458
|
|
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln)
|
|
|
NM_000368.5(TSC1):c.1601_1602del (p.Glu534fs)
|
|
|
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla)
|
rs1554815972
|
|
NM_000368.5(TSC1):c.1607T>A (p.Leu536Ter)
|
|
|
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser)
|
rs776633158
|
|
NM_000368.5(TSC1):c.1607_1616del (p.Leu536fs)
|
|
|
NM_000368.5(TSC1):c.1610_1611del (p.His537fs)
|
|
|
NM_000368.5(TSC1):c.1611C>T (p.His537=)
|
rs898271020
|
|
NM_000368.5(TSC1):c.1613C>G (p.Ser538Cys)
|
|
|
NM_000368.5(TSC1):c.1613C>T (p.Ser538Phe)
|
rs1588310350
|
|
NM_000368.5(TSC1):c.1614C>T (p.Ser538=)
|
rs878853961
|
|
NM_000368.5(TSC1):c.1614del (p.Ser539fs)
|
rs1845643067
|
|
NM_000368.5(TSC1):c.1617C>T (p.Ser539=)
|
rs1554815969
|
|
NM_000368.5(TSC1):c.1619T>C (p.Leu540Pro)
|
rs1588310300
|
|
NM_000368.5(TSC1):c.161C>G (p.Ser54Cys)
|
|
|
NM_000368.5(TSC1):c.161del (p.Ser54fs)
|
|
|
NM_000368.5(TSC1):c.1621G>A (p.Asp541Asn)
|
|
|
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu)
|
rs1845641716
|
|
NM_000368.5(TSC1):c.1624A>T (p.Lys542Ter)
|
rs1845641716
|
|
NM_000368.5(TSC1):c.1625A>G (p.Lys542Arg)
|
|
|
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro)
|
rs1588310271
|
|
NM_000368.5(TSC1):c.1628T>G (p.Leu543Arg)
|
rs1588310271
|
|
NM_000368.5(TSC1):c.1629T>C (p.Leu543=)
|
|
|
NM_000368.5(TSC1):c.1634C>T (p.Pro545Leu)
|
|
|
NM_000368.5(TSC1):c.1638C>A (p.Asp546Glu)
|
|
|
NM_000368.5(TSC1):c.1638C>T (p.Asp546=)
|
rs2131836226
|
|
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)
|
rs118203343
|
|
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
|
|
|
NM_000368.5(TSC1):c.1641A>G (p.Thr547=)
|
|
|
NM_000368.5(TSC1):c.1647G>A (p.Lys549=)
|
rs2131835538
|
|
NM_000368.5(TSC1):c.1647G>T (p.Lys549Asn)
|
|
|
NM_000368.5(TSC1):c.1648C>T (p.Gln550Ter)
|
|
|
NM_000368.5(TSC1):c.1649A>T (p.Gln550Leu)
|
|
|
NM_000368.5(TSC1):c.1654_1655delinsCCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTACAAAGTC (p.Phe552fs)
|
|
|
NM_000368.5(TSC1):c.1662C>T (p.Pro554=)
|
|
|
NM_000368.5(TSC1):c.1663A>G (p.Ile555Val)
|
rs2131834436
|
|
NM_000368.5(TSC1):c.1666G>T (p.Asp556Tyr)
|
|
|
NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu)
|
rs1845637294
|
|
NM_000368.5(TSC1):c.1668C>T (p.Asp556=)
|
rs1845637294
|
|
NM_000368.5(TSC1):c.1669C>T (p.Leu557=)
|
rs118203555
|
|
NM_000368.5(TSC1):c.1671G>T (p.Leu557=)
|
rs2131833685
|
|
NM_000368.5(TSC1):c.1671_1672delinsTT (p.Pro558Ser)
|
|
|
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser)
|
rs1554815946
|
|
NM_000368.5(TSC1):c.1674del (p.Cys559fs)
|
|
|
NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter)
|
rs368317116
|
|
NM_000368.5(TSC1):c.1677C>G (p.Cys559Trp)
|
|
|
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp)
|
rs1395737285
|
|
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val)
|
rs1395737285
|
|
NM_000368.5(TSC1):c.1679dup (p.Ser561fs)
|
rs2131833003
|
|
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1681A>C (p.Ser561Arg)
|
rs1845635382
|
|
NM_000368.5(TSC1):c.1681A>G (p.Ser561Gly)
|
rs1845635382
|
|
NM_000368.5(TSC1):c.1684G>A (p.Ala562Thr)
|
rs1845635236
|
|
NM_000368.5(TSC1):c.1685C>T (p.Ala562Val)
|
rs377185303
|
|
NM_000368.5(TSC1):c.1686T>C (p.Ala562=)
|
|
|
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn)
|
rs1554815931
|
|
NM_000368.5(TSC1):c.1690G>T (p.Glu564Ter)
|
|
|
NM_000368.5(TSC1):c.1691A>G (p.Glu564Gly)
|
|
|
NM_000368.5(TSC1):c.1692_1693dup (p.Ser565fs)
|
rs118203562
|
|
NM_000368.5(TSC1):c.1695C>T (p.Ser565=)
|
rs1845634405
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1701G>C (p.Ala567=)
|
rs35478675
|
|
NM_000368.5(TSC1):c.1703G>C (p.Gly568Ala)
|
rs1845633233
|
|
NM_000368.5(TSC1):c.1703_1705del (p.Gly568del)
|
rs1845632722
|
|
NM_000368.5(TSC1):c.1704A>C (p.Gly568=)
|
rs1171240569
|
|
NM_000368.5(TSC1):c.1706A>G (p.Asp569Gly)
|
rs1588309831
|
|
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
|
rs118203564
|
|
NM_000368.5(TSC1):c.1709G>C (p.Arg570Thr)
|
|
|
NM_000368.5(TSC1):c.1710G>A (p.Arg570=)
|
rs777386797
|
|
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys)
|
|
|
NM_000368.5(TSC1):c.1713A>G (p.Glu571=)
|
rs1588309781
|
|
NM_000368.5(TSC1):c.1715G>C (p.Cys572Ser)
|
|
|
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs)
|
rs1588309702
|
|
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu)
|
rs118203565
|
|
NM_000368.5(TSC1):c.1718A>C (p.Gln573Pro)
|
|
|
NM_000368.5(TSC1):c.1718A>G (p.Gln573Arg)
|
rs2131829461
|
|
NM_000368.5(TSC1):c.1719G>A (p.Gln573=)
|
rs1588309743
|
|
NM_000368.5(TSC1):c.171A>G (p.Ala57=)
|
rs1060504853
|
|
NM_000368.5(TSC1):c.171A>T (p.Ala57=)
|
|
|
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala)
|
rs1454859974
|
|
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile)
|
rs548002938
|
|
NM_000368.5(TSC1):c.1724C>A (p.Ser575Tyr)
|
rs118203566
|
|
NM_000368.5(TSC1):c.1726T>G (p.Leu576Val)
|
|
|
NM_000368.5(TSC1):c.1726_1727del (p.Leu576fs)
|
rs886041684
|
|
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys)
|
rs118203570
|
|
NM_000368.5(TSC1):c.172T>C (p.Leu58=)
|
rs1564503254
|
|
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp)
|
rs118203571
|
|
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile)
|
rs1588309612
|
|
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
|
rs1251871091
|
|
NM_000368.5(TSC1):c.1735A>G (p.Ser579Gly)
|
rs1845629411
|
|
NM_000368.5(TSC1):c.1737T>C (p.Ser579=)
|
rs1588309585
|
|
NM_000368.5(TSC1):c.1738A>T (p.Ile580Phe)
|
|
|
NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala)
|
rs1564481573
|
|
NM_000368.5(TSC1):c.1744A>T (p.Thr582Ser)
|
rs1564481573
|
|
NM_000368.5(TSC1):c.1746T>G (p.Thr582=)
|
rs2131827290
|
|
NM_000368.5(TSC1):c.1747C>G (p.Pro583Ala)
|
rs2131827202
|
|
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser)
|
|
|
NM_000368.5(TSC1):c.1748C>T (p.Pro583Leu)
|
rs2131827057
|
|
NM_000368.5(TSC1):c.1749C>T (p.Pro583=)
|
rs876659216
|
|
NM_000368.5(TSC1):c.1749del (p.Ser584fs)
|
rs2131827015
|
|
NM_000368.5(TSC1):c.174G>A (p.Leu58=)
|
|
|
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)
|
rs786203799
|
|
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg)
|
rs1845627777
|
|
NM_000368.5(TSC1):c.1753C>A (p.Pro585Thr)
|
|
|
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser)
|
rs766367103
|
|
NM_000368.5(TSC1):c.1756T>C (p.Cys586Arg)
|
rs760356610
|
|
NM_000368.5(TSC1):c.1757G>A (p.Cys586Tyr)
|
rs1588309480
|
|
NM_000368.5(TSC1):c.1758T>C (p.Cys586=)
|
rs1301051974
|
|
NM_000368.5(TSC1):c.1758T>G (p.Cys586Trp)
|
|
|
NM_000368.5(TSC1):c.1758del (p.Pro585_Cys586insTer)
|
rs1554815856
|
|
NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu)
|
rs397514846
|
|
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)
|
rs397514846
|
|
NM_000368.5(TSC1):c.175C>T (p.His59Tyr)
|
|
|
NM_000368.5(TSC1):c.1768C>T (p.Pro590Ser)
|
rs902419565
|
|
NM_000368.5(TSC1):c.176A>C (p.His59Pro)
|
rs757837986
|
|
NM_000368.5(TSC1):c.176A>T (p.His59Leu)
|
rs757837986
|
|
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)
|
rs1429666367
|
|
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln)
|
rs768985094
|
|
NM_000368.5(TSC1):c.1772dup (p.Thr592fs)
|
|
|
NM_000368.5(TSC1):c.1773G>C (p.Pro591=)
|
|
|
NM_000368.5(TSC1):c.1773G>T (p.Pro591=)
|
rs146578402
|
|
NM_000368.5(TSC1):c.1775C>A (p.Thr592Lys)
|
|
|
NM_000368.5(TSC1):c.1775C>G (p.Thr592Arg)
|
rs775869914
|
|
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly)
|
rs118203581
|
|
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu)
|
rs1060503194
|
|
NM_000368.5(TSC1):c.1781T>C (p.Val594Ala)
|
|
|
NM_000368.5(TSC1):c.1781T>G (p.Val594Gly)
|
|
|
NM_000368.5(TSC1):c.1781del (p.Val594fs)
|
rs1554815829
|
|
NM_000368.5(TSC1):c.1782G>A (p.Val594=)
|
rs1588309238
|
|
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs)
|
rs1554815828
|
|
NM_000368.5(TSC1):c.1783G>T (p.Gly595Cys)
|
rs2131824204
|
|
NM_000368.5(TSC1):c.1785C>A (p.Gly595=)
|
rs2131824070
|
|
NM_000368.5(TSC1):c.1786T>C (p.Phe596Leu)
|
|
|
NM_000368.5(TSC1):c.1787T>G (p.Phe596Cys)
|
|
|
NM_000368.5(TSC1):c.1789G>A (p.Gly597Arg)
|
|
|
NM_000368.5(TSC1):c.1792_1804dup (p.Pro602fs)
|
|
|
NM_000368.5(TSC1):c.1794C>A (p.Ser598Arg)
|
rs766438395
|
|
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu)
|
rs1845622314
|
|
NM_000368.5(TSC1):c.1797G>A (p.Gly599=)
|
|
|
NM_000368.5(TSC1):c.1797del (p.Gln600fs)
|
rs2131823012
|
|
NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter)
|
|
|
NM_000368.5(TSC1):c.17del (p.Asn6fs)
|
rs2132297010
|
|
NM_000368.5(TSC1):c.1800G>A (p.Gln600=)
|
|
|
NM_000368.5(TSC1):c.1802C>A (p.Pro601His)
|
rs543077026
|
|
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)
|
rs543077026
|
|
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr)
|
rs1588309106
|
|
NM_000368.5(TSC1):c.1804C>T (p.Pro602Ser)
|
|
|
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu)
|
rs1588309097
|
|
NM_000368.5(TSC1):c.1806C>T (p.Pro602=)
|
|
|
NM_000368.5(TSC1):c.1808C>A (p.Pro603Gln)
|
rs751247705
|
|
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg)
|
rs751247705
|
|
NM_000368.5(TSC1):c.1809G>C (p.Pro603=)
|
rs112434645
|
|
NM_000368.5(TSC1):c.180C>A (p.Ile60=)
|
rs1162060045
|
|
NM_000368.5(TSC1):c.180C>T (p.Ile60=)
|
rs1162060045
|
|
NM_000368.5(TSC1):c.1812T>C (p.Tyr604=)
|
|
|
NM_000368.5(TSC1):c.1812T>G (p.Tyr604Ter)
|
rs2131821679
|
|
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn)
|
rs1588309025
|
|
NM_000368.5(TSC1):c.1813G>C (p.Asp605His)
|
rs1588309025
|
|
NM_000368.5(TSC1):c.1814A>G (p.Asp605Gly)
|
rs994264701
|
|
NM_000368.5(TSC1):c.1814A>T (p.Asp605Val)
|
rs994264701
|
|
NM_000368.5(TSC1):c.1815T>A (p.Asp605Glu)
|
rs2131821441
|
|
NM_000368.5(TSC1):c.1815T>C (p.Asp605=)
|
|
|
NM_000368.5(TSC1):c.1817A>C (p.His606Pro)
|
rs1845620152
|
|
NM_000368.5(TSC1):c.1817A>G (p.His606Arg)
|
|
|
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)
|
rs1554815795
|
|
NM_000368.5(TSC1):c.181del (p.Ile60_Leu61insTer)
|
rs2132266748
|
|
NM_000368.5(TSC1):c.181dup (p.Leu61fs)
|
rs2132266748
|
|
NM_000368.5(TSC1):c.1820T>A (p.Leu607His)
|
|
|
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu)
|
rs1845619679
|
|
NM_000368.5(TSC1):c.1824T>G (p.Phe608Leu)
|
|
|
NM_000368.5(TSC1):c.1825G>A (p.Glu609Lys)
|
rs118203587
|
|
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter)
|
rs118203587
|
|
NM_000368.5(TSC1):c.1828G>A (p.Val610Met)
|
rs1845619200
|
|
NM_000368.5(TSC1):c.1829T>C (p.Val610Ala)
|
rs1845619064
|
|
NM_000368.5(TSC1):c.1829T>G (p.Val610Gly)
|
rs1845619064
|
|
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)
|
rs118203345
|
|
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)
|
rs118203345
|
|
NM_000368.5(TSC1):c.182del (p.Leu61fs)
|
|
|
NM_000368.5(TSC1):c.1830G>A (p.Val610=)
|
rs2131820356
|
|
NM_000368.5(TSC1):c.1833A>G (p.Ala611=)
|
rs1240702401
|
|
NM_000368.5(TSC1):c.1834T>C (p.Leu612=)
|
rs2131820086
|
|
NM_000368.5(TSC1):c.1837C>T (p.Pro613Ser)
|
rs2131819871
|
|
NM_000368.5(TSC1):c.183G>A (p.Leu61=)
|
rs1588359435
|
|
NM_000368.5(TSC1):c.1841A>G (p.Lys614Arg)
|
|
|
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile)
|
rs1588308884
|
|
NM_000368.5(TSC1):c.1846G>A (p.Ala616Thr)
|
rs1845618225
|
|
NM_000368.5(TSC1):c.1847C>G (p.Ala616Gly)
|
|
|
NM_000368.5(TSC1):c.1848C>G (p.Ala616=)
|
rs752286096
|
|
NM_000368.5(TSC1):c.1849_1852dup (p.His618fs)
|
rs2131818738
|
|
NM_000368.5(TSC1):c.1849del (p.His617fs)
|
rs1564481122
|
|
NM_000368.5(TSC1):c.184A>G (p.Thr62Ala)
|
|
|
NM_000368.5(TSC1):c.1851T>C (p.His617=)
|
rs2131818787
|
|
NM_000368.5(TSC1):c.1852C>A (p.His618Asn)
|
rs1588308804
|
|
NM_000368.5(TSC1):c.1852C>G (p.His618Asp)
|
rs1588308804
|
|
NM_000368.5(TSC1):c.1852C>T (p.His618Tyr)
|
rs1588308804
|
|
NM_000368.5(TSC1):c.1853A>G (p.His618Arg)
|
rs2131818558
|
|
NM_000368.5(TSC1):c.1854T>C (p.His618=)
|
rs2131818460
|
|
NM_000368.5(TSC1):c.1854T>G (p.His618Gln)
|
rs2131818460
|
|
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val)
|
rs1554815776
|
|
NM_000368.5(TSC1):c.1855_1856inv (p.Phe619Asn)
|
|
|
NM_000368.5(TSC1):c.1858_1859del (p.Val620fs)
|
rs1845617102
|
|
NM_000368.5(TSC1):c.1859T>C (p.Val620Ala)
|
|
|
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)
|
|
|
NM_000368.5(TSC1):c.1860C>T (p.Val620=)
|
rs1588308756
|
|
NM_000368.5(TSC1):c.1863C>T (p.Ile621=)
|
rs898222579
|
|
NM_000368.5(TSC1):c.1866G>A (p.Arg622=)
|
rs2131817489
|
|
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
|
|
|
NM_000368.5(TSC1):c.186C>G (p.Thr62=)
|
rs1554820640
|
|
NM_000368.5(TSC1):c.186C>T (p.Thr62=)
|
rs1554820640
|
|
NM_000368.5(TSC1):c.1871C>G (p.Thr624Ser)
|
rs754401816
|
|
NM_000368.5(TSC1):c.1872T>C (p.Thr624=)
|
rs2131817057
|
|
NM_000368.5(TSC1):c.1872T>G (p.Thr624=)
|
rs2131817057
|
|
NM_000368.5(TSC1):c.1872dup (p.Glu625Ter)
|
rs2131817146
|
|
NM_000368.5(TSC1):c.1873_1876dup (p.Glu626fs)
|
rs2131816800
|
|
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)
|
rs886038287
|
|
NM_000368.5(TSC1):c.1876G>A (p.Glu626Lys)
|
rs397514815
|
|
NM_000368.5(TSC1):c.1876G>C (p.Glu626Gln)
|
|
|
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)
|
rs397514815
|
|
NM_000368.5(TSC1):c.1879C>G (p.Leu627Val)
|
|
|
NM_000368.5(TSC1):c.1879C>T (p.Leu627=)
|
rs1171110012
|
|
NM_000368.5(TSC1):c.1881G>T (p.Leu627=)
|
|
|
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln)
|
rs1554815756
|
|
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu)
|
rs1158059433
|
|
NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter)
|
rs1158059433
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
|
|
NM_000368.5(TSC1):c.1889A>C (p.Lys630Thr)
|
|
|
NM_000368.5(TSC1):c.188C>T (p.Thr63Ile)
|
rs1564503204
|
|
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr)
|
rs1845613535
|
|
NM_000368.5(TSC1):c.1893A>T (p.Ala631=)
|
rs2131815302
|
|
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg)
|
rs1554815747
|
|
NM_000368.5(TSC1):c.1896del (p.Gly633fs)
|
rs1564480935
|
|
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg)
|
rs1471587230
|
|
NM_000368.5(TSC1):c.1897G>C (p.Gly633Arg)
|
|
|
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu)
|
rs1554815746
|
|
NM_000368.5(TSC1):c.1898del (p.Gly633fs)
|
rs2131814973
|
|
NM_000368.5(TSC1):c.1899_1900insTATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGCAAAAGGA (p.Asn634fs)
|
|
|
NM_000368.5(TSC1):c.18T>C (p.Asn6=)
|
rs2132296958
|
|
NM_000368.5(TSC1):c.1901A>G (p.Asn634Ser)
|
rs2131814737
|
|
NM_000368.5(TSC1):c.1903A>C (p.Thr635Pro)
|
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1905A>G (p.Thr635=)
|
rs2131814347
|
|
NM_000368.5(TSC1):c.1906G>C (p.Glu636Gln)
|
rs1588308465
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1908G>A (p.Glu636=)
|
rs1588308443
|
|
NM_000368.5(TSC1):c.1909G>A (p.Glu637Lys)
|
|
|
NM_000368.5(TSC1):c.1911A>C (p.Glu637Asp)
|
rs1845611837
|
|
NM_000368.5(TSC1):c.1912G>A (p.Asp638Asn)
|
|
|
NM_000368.5(TSC1):c.1912G>T (p.Asp638Tyr)
|
|
|
NM_000368.5(TSC1):c.1914T>A (p.Asp638Glu)
|
|
|
NM_000368.5(TSC1):c.1914T>C (p.Asp638=)
|
|
|
NM_000368.5(TSC1):c.1914del (p.Asp638fs)
|
|
|
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)
|
rs372583166
|
|
NM_000368.5(TSC1):c.1918G>A (p.Val640Met)
|
rs1845611376
|
|
NM_000368.5(TSC1):c.1918dup (p.Val640fs)
|
rs2131813354
|
|
NM_000368.5(TSC1):c.1919T>A (p.Val640Glu)
|
rs2131813212
|
|
NM_000368.5(TSC1):c.191T>A (p.Leu64Ter)
|
rs1846916239
|
|
NM_000368.5(TSC1):c.1920G>A (p.Val640=)
|
|
|
NM_000368.5(TSC1):c.1920G>C (p.Val640=)
|
|
|
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu)
|
rs397514863
|
|
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe)
|
rs1845610761
|
|
NM_000368.5(TSC1):c.1929del (p.Ser644fs)
|
rs2131812351
|
|
NM_000368.5(TSC1):c.192G>T (p.Leu64Phe)
|
rs1554820635
|
|
NM_000368.5(TSC1):c.1933C>T (p.Pro645Ser)
|
|
|
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)
|
rs1269162063
|
|
NM_000368.5(TSC1):c.1935A>G (p.Pro645=)
|
rs1588308312
|
|
NM_000368.5(TSC1):c.1936dup (p.Met646fs)
|
rs2131811653
|
|
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)
|
rs1588308288
|
|
NM_000368.5(TSC1):c.1939G>A (p.Glu647Lys)
|
rs1171512070
|
|
NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter)
|
rs1171512070
|
|
NM_000368.5(TSC1):c.193C>T (p.Gln65Ter)
|
rs1846915941
|
|
NM_000368.5(TSC1):c.1940A>T (p.Glu647Val)
|
|
|
NM_000368.5(TSC1):c.1944G>A (p.Val648=)
|
rs1554815720
|
|
NM_000368.5(TSC1):c.1944dup (p.Leu649fs)
|
rs2131811032
|
|
NM_000368.5(TSC1):c.1947G>A (p.Leu649=)
|
|
|
NM_000368.5(TSC1):c.194A>C (p.Gln65Pro)
|
|
|
NM_000368.5(TSC1):c.1950C>T (p.Asp650=)
|
rs1845608638
|
|
NM_000368.5(TSC1):c.1951del (p.Arg651fs)
|
|
|
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg)
|
|
|
NM_000368.5(TSC1):c.1956G>T (p.Leu652=)
|
rs2131810069
|
|
NM_000368.5(TSC1):c.1956_1960delinsTCAGGG (p.Ile653fs)
|
rs1845607838
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.1960C>A (p.Gln654Lys)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1961A>G (p.Gln654Arg)
|
|
|
NM_000368.5(TSC1):c.1961_1974del (p.Gln654fs)
|
|
|
NM_000368.5(TSC1):c.1962G>C (p.Gln654His)
|
rs1845607280
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter)
|
rs2131809131
|
|
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala)
|
rs1554815701
|
|
NM_000368.5(TSC1):c.1970C>G (p.Ala657Gly)
|
rs1845606482
|
|
NM_000368.5(TSC1):c.1974C>A (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1977G>T (p.Ala659=)
|
rs35958226
|
|
NM_000368.5(TSC1):c.1978C>T (p.His660Tyr)
|
|
|
NM_000368.5(TSC1):c.1980C>T (p.His660=)
|
rs2131808112
|
|
NM_000368.5(TSC1):c.1983C>T (p.Ser661=)
|
|
|
NM_000368.5(TSC1):c.1985A>C (p.Lys662Thr)
|
|
|
NM_000368.5(TSC1):c.1986G>A (p.Lys662=)
|
rs2131807682
|
|
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter)
|
rs886041538
|
|
NM_000368.5(TSC1):c.1987_1988delinsTT (p.Glu663Leu)
|
|
|
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val)
|
rs1845605103
|
|
NM_000368.5(TSC1):c.1989G>A (p.Glu663=)
|
|
|
NM_000368.5(TSC1):c.1995C>A (p.Asn665Lys)
|
|
|
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys)
|
rs748733167
|
|
NM_000368.5(TSC1):c.1996A>G (p.Lys666Glu)
|
rs1845604585
|
|
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)
|
rs1845604585
|
|
NM_000368.5(TSC1):c.1997+12G>A
|
|
|
NM_000368.5(TSC1):c.1997+12G>T
|
rs1472417305
|
|
NM_000368.5(TSC1):c.1997+13G>A
|
|
|
NM_000368.5(TSC1):c.1997+15C>T
|
|
|
NM_000368.5(TSC1):c.1997+16A>T
|
rs755582593
|
|
NM_000368.5(TSC1):c.1997+17C>G
|
rs397514860
|
|
NM_000368.5(TSC1):c.1997+17C>T
|
rs397514860
|
|
NM_000368.5(TSC1):c.1997+18T>C
|
rs750338319
|
|
NM_000368.5(TSC1):c.1997+19C>G
|
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+1G>T
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+2T>G
|
rs2131806725
|
|
NM_000368.5(TSC1):c.1997+2dup
|
|
|
NM_000368.5(TSC1):c.1997+3A>C
|
|
|
NM_000368.5(TSC1):c.1997+3A>G
|
rs1554815682
|
|
NM_000368.5(TSC1):c.1997+4del
|
rs2131806631
|
|
NM_000368.5(TSC1):c.1997+5G>A
|
rs1554815679
|
|
NM_000368.5(TSC1):c.1997+6G>A
|
rs553762962
|
|
NM_000368.5(TSC1):c.1997+9C>G
|
rs371043832
|
|
NM_000368.5(TSC1):c.1997+9C>T
|
rs371043832
|
|
NM_000368.5(TSC1):c.1998-10T>C
|
|
|
NM_000368.5(TSC1):c.1998-11dup
|
rs1388433086
|
|
NM_000368.5(TSC1):c.1998-14A>C
|
|
|
NM_000368.5(TSC1):c.1998-14A>G
|
rs1845549826
|
|
NM_000368.5(TSC1):c.1998-16A>C
|
rs2131789464
|
|
NM_000368.5(TSC1):c.1998-16A>T
|
rs2131789464
|
|
NM_000368.5(TSC1):c.1998-18C>G
|
rs1845550039
|
|
NM_000368.5(TSC1):c.1998-19T>C
|
rs184408837
|
|
NM_000368.5(TSC1):c.1998-1G>C
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-1G>T
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-20C>T
|
rs1845550517
|
|
NM_000368.5(TSC1):c.1998-24_1998-9dup
|
rs2131789370
|
|
NM_000368.5(TSC1):c.1998-2A>C
|
rs1057518217
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
NM_000368.5(TSC1):c.1998-5C>T
|
rs1845548849
|
|
NM_000368.5(TSC1):c.1998-7T>C
|
|
|
NM_000368.5(TSC1):c.1998-7T>G
|
rs1845549017
|
|
NM_000368.5(TSC1):c.1998-8C>A
|
|
|
NM_000368.5(TSC1):c.1999T>C (p.Leu667=)
|
rs2131788780
|
|
NM_000368.5(TSC1):c.19G>A (p.Val7Ile)
|
|
|
NM_000368.5(TSC1):c.2000T>C (p.Leu667Ser)
|
|
|
NM_000368.5(TSC1):c.2000dup (p.Leu667fs)
|
|
|
NM_000368.5(TSC1):c.2001G>A (p.Leu667=)
|
|
|
NM_000368.5(TSC1):c.2006T>C (p.Leu669Ser)
|
rs118203617
|
|
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)
|
rs118203617
|
|
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr)
|
|
|
NM_000368.5(TSC1):c.2009C>A (p.Pro670His)
|
|
|
NM_000368.5(TSC1):c.2010C>T (p.Pro670=)
|
rs1588305958
|
|
NM_000368.5(TSC1):c.2011A>G (p.Ser671Gly)
|
rs1475481061
|
|
NM_000368.5(TSC1):c.2012G>T (p.Ser671Ile)
|
rs1845546239
|
|
NM_000368.5(TSC1):c.2013C>A (p.Ser671Arg)
|
rs1845545985
|
|
NM_000368.5(TSC1):c.2016G>A (p.Lys672=)
|
rs748487106
|
|
NM_000368.5(TSC1):c.2018C>G (p.Ser673Cys)
|
rs774835995
|
|
NM_000368.5(TSC1):c.201A>C (p.Pro67=)
|
rs371555137
|
|
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile)
|
rs1845544758
|
|
NM_000368.5(TSC1):c.2021T>C (p.Val674Ala)
|
|
|
NM_000368.5(TSC1):c.2021T>G (p.Val674Gly)
|
rs1588305911
|
|
NM_000368.5(TSC1):c.2022C>A (p.Val674=)
|
rs118203618
|
|
NM_000368.5(TSC1):c.2022C>G (p.Val674=)
|
rs118203618
|
|
NM_000368.5(TSC1):c.2022C>T (p.Val674=)
|
rs118203618
|
|
NM_000368.5(TSC1):c.2022del (p.Asp675fs)
|
rs118203619
|
|
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2025C>A (p.Asp675Glu)
|
|
|
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter)
|
rs1554815454
|
|
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter)
|
rs118203621
|
|
NM_000368.5(TSC1):c.2031C>A (p.Thr677=)
|
rs1060504855
|
|
NM_000368.5(TSC1):c.2031C>T (p.Thr677=)
|
rs1060504855
|
|
NM_000368.5(TSC1):c.2033A>G (p.His678Arg)
|
rs745413532
|
|
NM_000368.5(TSC1):c.2033del (p.His678fs)
|
rs2131786544
|
|
NM_000368.5(TSC1):c.2034C>G (p.His678Gln)
|
rs201392975
|
|
NM_000368.5(TSC1):c.2037T>C (p.Phe679=)
|
|
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
|
NM_000368.5(TSC1):c.2039_2041+1del
|
rs2131785934
|
|
NM_000368.5(TSC1):c.2039del (p.Gly680fs)
|
rs2131786241
|
|
NM_000368.5(TSC1):c.2040A>C (p.Gly680=)
|
rs2131786060
|
|
NM_000368.5(TSC1):c.2041+11T>C
|
|
|
NM_000368.5(TSC1):c.2041+12A>T
|
|
|
NM_000368.5(TSC1):c.2041+13C>T
|
rs1288259134
|
|
NM_000368.5(TSC1):c.2041+15T>C
|
|
|
NM_000368.5(TSC1):c.2041+15T>G
|
|
|
NM_000368.5(TSC1):c.2041+16T>C
|
rs754045538
|
|
NM_000368.5(TSC1):c.2041+17A>G
|
rs2131785386
|
|
NM_000368.5(TSC1):c.2041+1G>A
|
rs397514842
|
|
NM_000368.5(TSC1):c.2041+240_2392-319del
|
|
|
NM_000368.5(TSC1):c.2041+5A>C
|
|
|
NM_000368.5(TSC1):c.2041+5del
|
rs1564479424
|
|
NM_000368.5(TSC1):c.2041+6G>A
|
rs1845540881
|
|
NM_000368.5(TSC1):c.2041+6_2041+7dup
|
rs1845540759
|
|
NM_000368.5(TSC1):c.2041+7T>C
|
|
|
NM_000368.5(TSC1):c.2042-10T>A
|
rs1845512917
|
|
NM_000368.5(TSC1):c.2042-12C>T
|
|
|
NM_000368.5(TSC1):c.2042-14dup
|
rs1845513047
|
|
NM_000368.5(TSC1):c.2042-15C>T
|
|
|
NM_000368.5(TSC1):c.2042-177_2266del
|
|
|
NM_000368.5(TSC1):c.2042-19C>T
|
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000368.5(TSC1):c.2042-5A>T
|
rs118203627
|
|
NM_000368.5(TSC1):c.2042-7C>T
|
rs2131775341
|
|
NM_000368.5(TSC1):c.2042-8A>G
|
rs1845512785
|
|
NM_000368.5(TSC1):c.2042-9T>C
|
|
|
NM_000368.5(TSC1):c.2042-9del
|
rs2131775434
|
|
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys)
|
rs919177189
|
|
NM_000368.5(TSC1):c.2045C>T (p.Ser682Phe)
|
|
|
NM_000368.5(TSC1):c.2046_2050del (p.Pro683fs)
|
rs2131774414
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
NM_000368.5(TSC1):c.2048C>T (p.Pro683Leu)
|
rs1413960643
|
|
NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser)
|
rs746909024
|
|
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg)
|
rs1845511359
|
|
NM_000368.5(TSC1):c.2052_2054del (p.Ser685del)
|
rs2131774168
|
|
NM_000368.5(TSC1):c.2055A>G (p.Ser685=)
|
|
|
NM_000368.5(TSC1):c.2056G>A (p.Asp686Asn)
|
rs1406756346
|
|
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly)
|
rs786201465
|
|
NM_000368.5(TSC1):c.2063_2078del (p.Ile688fs)
|
|
|
NM_000368.5(TSC1):c.2064C>A (p.Ile688=)
|
rs878853963
|
|
NM_000368.5(TSC1):c.2064C>G (p.Ile688Met)
|
|
|
NM_000368.5(TSC1):c.2065dup (p.Arg689fs)
|
rs2131773288
|
|
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro)
|
rs200827913
|
|
NM_000368.5(TSC1):c.2066G>T (p.Arg689Leu)
|
rs200827913
|
|
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala)
|
rs752473063
|
|
NM_000368.5(TSC1):c.2069C>T (p.Thr690Ile)
|
rs1845509575
|
|
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly)
|
rs1846914861
|
|
NM_000368.5(TSC1):c.2070C>T (p.Thr690=)
|
rs780223819
|
|
NM_000368.5(TSC1):c.2071C>G (p.Leu691Val)
|
rs1554815343
|
|
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe)
|
rs1554815343
|
|
NM_000368.5(TSC1):c.2072T>A (p.Leu691His)
|
rs876658244
|
|
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro)
|
rs876658244
|
|
NM_000368.5(TSC1):c.2072T>G (p.Leu691Arg)
|
|
|
NM_000368.5(TSC1):c.2073C>T (p.Leu691=)
|
rs2131772489
|
|
NM_000368.5(TSC1):c.2073_2074delinsTT (p.Arg692Ter)
|
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro)
|
rs199755731
|
|
NM_000368.5(TSC1):c.2075G>T (p.Arg692Leu)
|
|
|
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
|
|
|
NM_000368.5(TSC1):c.2077G>T (p.Asp693Tyr)
|
rs397514800
|
|
NM_000368.5(TSC1):c.2077_2078dup (p.Asp693fs)
|
|
|
NM_000368.5(TSC1):c.2078_2082del (p.Asp693fs)
|
|
|
NM_000368.5(TSC1):c.2080C>A (p.Gln694Lys)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2081del (p.Gln694fs)
|
|
|
NM_000368.5(TSC1):c.2082G>A (p.Gln694=)
|
rs2131771543
|
|
NM_000368.5(TSC1):c.2082G>T (p.Gln694His)
|
rs2131771543
|
|
NM_000368.5(TSC1):c.2083T>C (p.Leu695=)
|
rs2131771425
|
|
NM_000368.5(TSC1):c.2083T>G (p.Leu695Val)
|
|
|
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile)
|
rs1845506304
|
|
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe)
|
rs1845506304
|
|
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu)
|
rs876658838
|
|
NM_000368.5(TSC1):c.2090del (p.Leu697fs)
|
rs118203633
|
|
NM_000368.5(TSC1):c.2094G>A (p.Leu698=)
|
rs2131770442
|
|
NM_000368.5(TSC1):c.2094G>T (p.Leu698=)
|
|
|
NM_000368.5(TSC1):c.2095C>T (p.His699Tyr)
|
rs1845505547
|
|
NM_000368.5(TSC1):c.2096A>G (p.His699Arg)
|
rs1845505398
|
|
NM_000368.5(TSC1):c.2096del (p.His699fs)
|
|
|
NM_000368.5(TSC1):c.2097C>A (p.His699Gln)
|
rs1554815319
|
|
NM_000368.5(TSC1):c.2099A>G (p.Asn700Ser)
|
rs1845504712
|
|
NM_000368.5(TSC1):c.210+11A>C
|
|
|
NM_000368.5(TSC1):c.210+12A>G
|
rs764911510
|
|
NM_000368.5(TSC1):c.210+15A>G
|
rs2132264232
|
|
NM_000368.5(TSC1):c.210+16T>G
|
rs1057522568
|
|
NM_000368.5(TSC1):c.210+1G>T
|
|
|
NM_000368.5(TSC1):c.210+7G>T
|
rs2132264554
|
|
NM_000368.5(TSC1):c.2100C>T (p.Asn700=)
|
|
|
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.2105_2106insCT (p.Leu702fs)
|
rs1564478705
|
|
NM_000368.5(TSC1):c.2105_2108dup (p.Tyr704fs)
|
|
|
NM_000368.5(TSC1):c.2106dup (p.Leu703fs)
|
rs397514838
|
|
NM_000368.5(TSC1):c.2109C>G (p.Leu703=)
|
rs1440846632
|
|
NM_000368.5(TSC1):c.210G>A (p.Lys70=)
|
rs1060503219
|
|
NM_000368.5(TSC1):c.210G>C (p.Lys70Asn)
|
rs1060503219
|
|
NM_000368.5(TSC1):c.211-10del
|
rs1060504859
|
|
NM_000368.5(TSC1):c.211-11dup
|
rs397514775
|
|
NM_000368.5(TSC1):c.211-12T>C
|
|
|
NM_000368.5(TSC1):c.211-16T>A
|
rs118203351
|
|
NM_000368.5(TSC1):c.211-17T>C
|
rs573140264
|
|
NM_000368.5(TSC1):c.211-18_211-10dup
|
rs2132240395
|
|
NM_000368.5(TSC1):c.211-19T>C
|
rs2132240965
|
|
NM_000368.5(TSC1):c.211-19dup
|
|
|
NM_000368.5(TSC1):c.211-1G>A
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-1G>T
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-2A>C
|
rs118203352
|
|
NM_000368.5(TSC1):c.211-2A>G
|
|
|
NM_000368.5(TSC1):c.211-3C>A
|
|
|
NM_000368.5(TSC1):c.211-3C>T
|
rs1564501920
|
|
NM_000368.5(TSC1):c.211-4T>G
|
rs2132240125
|
|
NM_000368.5(TSC1):c.211-8A>C
|
|
|
NM_000368.5(TSC1):c.211-8A>T
|
|
|
NM_000368.5(TSC1):c.2110T>A (p.Tyr704Asn)
|
rs2131767728
|
|
NM_000368.5(TSC1):c.2111A>C (p.Tyr704Ser)
|
rs752054698
|
|
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.2112T>G (p.Tyr704Ter)
|
rs118203646
|
|
NM_000368.5(TSC1):c.2112_2125del (p.Tyr704_Arg709delinsTer)
|
|
|
NM_000368.5(TSC1):c.2116C>A (p.Arg706Ser)
|
rs1588304163
|
|
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys)
|
rs1588304163
|
|
NM_000368.5(TSC1):c.2117G>A (p.Arg706His)
|
rs1588304158
|
|
NM_000368.5(TSC1):c.2117G>C (p.Arg706Pro)
|
rs1588304158
|
|
NM_000368.5(TSC1):c.2118T>C (p.Arg706=)
|
rs2131766639
|
|
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu)
|
rs1845501093
|
|
NM_000368.5(TSC1):c.2122A>C (p.Lys708Gln)
|
rs1845500801
|
|
NM_000368.5(TSC1):c.2122A>T (p.Lys708Ter)
|
|
|
NM_000368.5(TSC1):c.2123dup (p.Arg709fs)
|
|
|
NM_000368.5(TSC1):c.2126G>A (p.Arg709Lys)
|
|
|
NM_000368.5(TSC1):c.2127G>A (p.Arg709=)
|
|
|
NM_000368.5(TSC1):c.2127del (p.Arg709fs)
|
|
|
NM_000368.5(TSC1):c.2129_2132dup (p.His712fs)
|
|
|
NM_000368.5(TSC1):c.212A>G (p.His71Arg)
|
rs1588355896
|
|
NM_000368.5(TSC1):c.2130dup (p.Gln711fs)
|
rs2131765460
|
|
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2136T>C (p.His712=)
|
rs1554815286
|
|
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)
|
|
|
NM_000368.5(TSC1):c.2138C>T (p.Ala713Val)
|
rs1286421874
|
|
NM_000368.5(TSC1):c.213C>T (p.His71=)
|
|
|
NM_000368.5(TSC1):c.2140del (p.Leu714fs)
|
|
|
NM_000368.5(TSC1):c.2140dup (p.Leu714fs)
|
|
|
NM_000368.5(TSC1):c.2141T>A (p.Leu714His)
|
rs1438737976
|
|
NM_000368.5(TSC1):c.2141del (p.Leu714fs)
|
rs2131764067
|
|
NM_000368.5(TSC1):c.2143C>G (p.Arg715Gly)
|
rs1564478519
|
|
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp)
|
rs1564478519
|
|
NM_000368.5(TSC1):c.2144G>C (p.Arg715Pro)
|
|
|
NM_000368.5(TSC1):c.2145G>T (p.Arg715=)
|
rs1379334013
|
|
NM_000368.5(TSC1):c.2145del (p.Asn716fs)
|
rs118203650
|
|
NM_000368.5(TSC1):c.2146A>C (p.Asn716His)
|
rs2131763292
|
|
NM_000368.5(TSC1):c.2147A>G (p.Asn716Ser)
|
rs2131763158
|
|
NM_000368.5(TSC1):c.2148C>T (p.Asn716=)
|
rs1554815274
|
|
NM_000368.5(TSC1):c.2149A>C (p.Arg717=)
|
rs1057523194
|
|
NM_000368.5(TSC1):c.214C>G (p.Leu72Val)
|
rs759183842
|
|
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe)
|
rs759183842
|
|
NM_000368.5(TSC1):c.2151G>A (p.Arg717=)
|
rs1301689988
|
|
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp)
|
rs1445358121
|
|
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln)
|
rs1060503207
|
|
NM_000368.5(TSC1):c.2156T>C (p.Leu719Pro)
|
rs2131761805
|
|
NM_000368.5(TSC1):c.2156TCC[1] (p.Leu720del)
|
|
|
NM_000368.5(TSC1):c.2157C>T (p.Leu719=)
|
rs1472557024
|
|
NM_000368.5(TSC1):c.2158C>T (p.Leu720Phe)
|
rs2131761582
|
|
NM_000368.5(TSC1):c.2159del (p.Leu720fs)
|
rs1845497321
|
|
NM_000368.5(TSC1):c.215T>A (p.Leu72His)
|
|
|
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly)
|
rs763357144
|
|
NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys)
|
rs763357144
|
|
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2162G>T (p.Arg721Leu)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2165A>G (p.Lys722Arg)
|
rs2131760538
|
|
NM_000368.5(TSC1):c.2165del (p.Lys722fs)
|
rs1060503213
|
|
NM_000368.5(TSC1):c.2167G>T (p.Val723Leu)
|
rs2131760345
|
|
NM_000368.5(TSC1):c.2167del (p.Lys722_Val723insTer)
|
rs2131760465
|
|
NM_000368.5(TSC1):c.2169G>A (p.Val723=)
|
rs2131760066
|
|
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr)
|
rs796053459
|
|
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
|
|
|
NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg)
|
|
|
NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs)
|
rs1554815246
|
|
NM_000368.5(TSC1):c.2178A>G (p.Ala726=)
|
rs1588303718
|
|
NM_000368.5(TSC1):c.217T>C (p.Leu73=)
|
rs2132239282
|
|
NM_000368.5(TSC1):c.2181A>C (p.Ala727=)
|
rs1588303703
|
|
NM_000368.5(TSC1):c.2181A>G (p.Ala727=)
|
rs1588303703
|
|
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr)
|
rs1845494587
|
|
NM_000368.5(TSC1):c.2182G>T (p.Ala728Ser)
|
rs1845494587
|
|
NM_000368.5(TSC1):c.2183C>T (p.Ala728Val)
|
rs1564478337
|
|
NM_000368.5(TSC1):c.2187G>A (p.Leu729=)
|
|
|
NM_000368.5(TSC1):c.218T>A (p.Leu73Ter)
|
rs1846822085
|
|
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)
|
rs397514820
|
|
NM_000368.5(TSC1):c.2192A>C (p.Glu731Ala)
|
|
|
NM_000368.5(TSC1):c.2195A>G (p.His732Arg)
|
rs878853964
|
|
NM_000368.5(TSC1):c.2196T>G (p.His732Gln)
|
|
|
NM_000368.5(TSC1):c.2197A>C (p.Asn733His)
|
|
|
NM_000368.5(TSC1):c.2198A>C (p.Asn733Thr)
|
rs1564478277
|
|
NM_000368.5(TSC1):c.2198A>G (p.Asn733Ser)
|
rs1564478277
|
|
NM_000368.5(TSC1):c.219G>A (p.Leu73=)
|
rs1588355863
|
|
NM_000368.5(TSC1):c.21C>A (p.Val7=)
|
rs145987906
|
|
NM_000368.5(TSC1):c.21C>G (p.Val7=)
|
rs145987906
|
|
NM_000368.5(TSC1):c.21C>T (p.Val7=)
|
rs145987906
|
|
NM_000368.5(TSC1):c.2202T>C (p.Ala734=)
|
|
|
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu)
|
rs2131756215
|
|
NM_000368.5(TSC1):c.2208+10G>A
|
|
|
NM_000368.5(TSC1):c.2208+10G>T
|
rs945077563
|
|
NM_000368.5(TSC1):c.2208+12_2208+29del
|
|
|
NM_000368.5(TSC1):c.2208+13G>T
|
rs2131755645
|
|
NM_000368.5(TSC1):c.2208+15G>A
|
|
|
NM_000368.5(TSC1):c.2208+16G>A
|
|
|
NM_000368.5(TSC1):c.2208+17G>A
|
rs1057523691
|
|
NM_000368.5(TSC1):c.2208+18G>T
|
|
|
NM_000368.5(TSC1):c.2208+20C>A
|
|
|
NM_000368.5(TSC1):c.2208+20C>G
|
rs771950290
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2208+7A>C
|
|
|
NM_000368.5(TSC1):c.2208+8C>A
|
rs2131755863
|
|
NM_000368.5(TSC1):c.2208+9T>G
|
rs2131755820
|
|
NM_000368.5(TSC1):c.2209-10T>G
|
rs2131742414
|
|
NM_000368.5(TSC1):c.2209-11G>A
|
rs1388387332
|
|
NM_000368.5(TSC1):c.2209-11G>T
|
rs1388387332
|
|
NM_000368.5(TSC1):c.2209-17T>C
|
|
|
NM_000368.5(TSC1):c.2209-18A>G
|
|
|
NM_000368.5(TSC1):c.2209-19C>T
|
rs2131742633
|
|
NM_000368.5(TSC1):c.2209-20A>G
|
rs2131742694
|
|
NM_000368.5(TSC1):c.2209-258_2502+101del
|
|
|
NM_000368.5(TSC1):c.2209-5G>C
|
rs1588302154
|
|
NM_000368.5(TSC1):c.2209-7C>T
|
|
|
NM_000368.5(TSC1):c.2209A>G (p.Lys737Glu)
|
rs1588302128
|
|
NM_000368.5(TSC1):c.220G>A (p.Asp74Asn)
|
rs2132238980
|
|
NM_000368.5(TSC1):c.220G>C (p.Asp74His)
|
|
|
NM_000368.5(TSC1):c.2210A>T (p.Lys737Ile)
|
|
|
NM_000368.5(TSC1):c.2212_2213dup (p.Asp738fs)
|
rs2131741904
|
|
NM_000368.5(TSC1):c.2213A>G (p.Asp738Gly)
|
|
|
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val)
|
rs1350928783
|
|
NM_000368.5(TSC1):c.2213_2214insGACCAGTCTTTTGTAAC (p.Asp738delinsGluThrSerLeuLeuTer)
|
|
|
NM_000368.5(TSC1):c.2215C>G (p.Gln739Glu)
|
|
|
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)
|
rs1554815054
|
|
NM_000368.5(TSC1):c.2217G>A (p.Gln739=)
|
rs1186305034
|
|
NM_000368.5(TSC1):c.2218T>C (p.Leu740=)
|
rs2131741485
|
|
NM_000368.5(TSC1):c.221A>G (p.Asp74Gly)
|
rs1846821741
|
|
NM_000368.5(TSC1):c.2220G>A (p.Leu740=)
|
rs1588302073
|
|
NM_000368.5(TSC1):c.2221A>C (p.Lys741Gln)
|
rs587778723
|
|
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr)
|
rs1588302047
|
|
NM_000368.5(TSC1):c.2223G>A (p.Lys741=)
|
rs1588302038
|
|
NM_000368.5(TSC1):c.2225T>C (p.Leu742Ser)
|
rs1060503201
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2229A>G (p.Gln743=)
|
|
|
NM_000368.5(TSC1):c.222C>G (p.Asp74Glu)
|
|
|
NM_000368.5(TSC1):c.222C>T (p.Asp74=)
|
rs1846821570
|
|
NM_000368.5(TSC1):c.2231A>G (p.Glu744Gly)
|
|
|
NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs)
|
rs1554815049
|
|
NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg)
|
|
|
NM_000368.5(TSC1):c.2235G>A (p.Lys745=)
|
rs753265422
|
|
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn)
|
rs753265422
|
|
NM_000368.5(TSC1):c.2235G>T (p.Lys745Asn)
|
rs753265422
|
|
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr)
|
rs786203007
|
|
NM_000368.5(TSC1):c.2238C>T (p.Asp746=)
|
|
|
NM_000368.5(TSC1):c.2239A>G (p.Ile747Val)
|
rs1564477496
|
|
NM_000368.5(TSC1):c.2239dup (p.Ile747fs)
|
|
|
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr)
|
|
|
NM_000368.5(TSC1):c.2241_2242del (p.Gln748fs)
|
rs2131739882
|
|
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter)
|
rs1588301951
|
|
NM_000368.5(TSC1):c.2242del (p.Gln748fs)
|
|
|
NM_000368.5(TSC1):c.2244G>C (p.Gln748His)
|
rs1588301930
|
|
NM_000368.5(TSC1):c.2247G>T (p.Met749Ile)
|
|
|
NM_000368.5(TSC1):c.2248_2249dup (p.Trp750fs)
|
rs1845453970
|
|
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)
|
rs118203663
|
|
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln)
|
rs1845453569
|
|
NM_000368.5(TSC1):c.2252A>G (p.Lys751Arg)
|
|
|
NM_000368.5(TSC1):c.2253G>T (p.Lys751Asn)
|
rs1845453410
|
|
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile)
|
rs765643529
|
|
NM_000368.5(TSC1):c.2254G>C (p.Val752Leu)
|
|
|
NM_000368.5(TSC1):c.2257dup (p.Ser753fs)
|
|
|
NM_000368.5(TSC1):c.225del (p.Ile76fs)
|
|
|
NM_000368.5(TSC1):c.2260C>T (p.Leu754=)
|
rs118203664
|
|
NM_000368.5(TSC1):c.2262G>A (p.Leu754=)
|
|
|
NM_000368.5(TSC1):c.2262G>C (p.Leu754=)
|
rs1845452852
|
|
NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter)
|
rs1845452711
|
|
NM_000368.5(TSC1):c.2265_2266del (p.Lys756fs)
|
|
|
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs)
|
rs118203665
|
|
NM_000368.5(TSC1):c.2269G>C (p.Glu757Gln)
|
rs1057519319
|
|
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter)
|
rs1057519319
|
|
NM_000368.5(TSC1):c.2270A>T (p.Glu757Val)
|
rs1845452248
|
|
NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)
|
|
|
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)
|
rs397514783
|
|
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
|
rs397514783
|
|
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr)
|
rs1060503199
|
|
NM_000368.5(TSC1):c.2276C>T (p.Ala759Val)
|
rs1554815021
|
|
NM_000368.5(TSC1):c.2277T>C (p.Ala759=)
|
|
|
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn)
|
rs118203355
|
|
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys)
|
rs1554815018
|
|
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2283C>T (p.Tyr761=)
|
|
|
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)
|
rs1264839312
|
|
NM_000368.5(TSC1):c.2285del (p.Asn762fs)
|
|
|
NM_000368.5(TSC1):c.2286T>A (p.Asn762Lys)
|
rs1554815010
|
|
NM_000368.5(TSC1):c.2286T>C (p.Asn762=)
|
rs1554815010
|
|
NM_000368.5(TSC1):c.2287C>G (p.Gln763Glu)
|
rs118203671
|
|
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)
|
rs118203671
|
|
NM_000368.5(TSC1):c.228_235del (p.Asn77fs)
|
|
|
NM_000368.5(TSC1):c.2290C>T (p.Leu764Phe)
|
|
|
NM_000368.5(TSC1):c.2292C>G (p.Leu764=)
|
rs2131735763
|
|
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)
|
rs118203675
|
|
NM_000368.5(TSC1):c.229A>G (p.Asn77Asp)
|
rs2132238313
|
|
NM_000368.5(TSC1):c.2300A>C (p.Gln767Pro)
|
rs1845449144
|
|
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg)
|
rs1845449144
|
|
NM_000368.5(TSC1):c.2301G>T (p.Gln767His)
|
rs1845448996
|
|
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys)
|
rs1588301564
|
|
NM_000368.5(TSC1):c.2304dup (p.Asp769Ter)
|
rs2131734694
|
|
NM_000368.5(TSC1):c.2311A>G (p.Met771Val)
|
rs1057522203
|
|
NM_000368.5(TSC1):c.2311_2312del (p.Met771fs)
|
|
|
NM_000368.5(TSC1):c.2314G>A (p.Val772Ile)
|
rs1468880078
|
|
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu)
|
|
|
NM_000368.5(TSC1):c.2314G>T (p.Val772Leu)
|
|
|
NM_000368.5(TSC1):c.2314del (p.Met771_Val772insTer)
|
|
|
NM_000368.5(TSC1):c.2317A>G (p.Thr773Ala)
|
|
|
NM_000368.5(TSC1):c.2317_2318delinsCA (p.Thr773His)
|
rs1060503202
|
|
NM_000368.5(TSC1):c.2321A>C (p.Lys774Thr)
|
rs2131733177
|
|
NM_000368.5(TSC1):c.2326C>A (p.His776Asn)
|
|
|
NM_000368.5(TSC1):c.2327A>G (p.His776Arg)
|
|
|
NM_000368.5(TSC1):c.2329A>G (p.Ser777Gly)
|
rs1554814968
|
|
NM_000368.5(TSC1):c.232G>C (p.Glu78Gln)
|
rs1588355838
|
|
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)
|
rs1588355838
|
|
NM_000368.5(TSC1):c.2331C>G (p.Ser777Arg)
|
rs1554814967
|
|
NM_000368.5(TSC1):c.2332C>A (p.Gln778Lys)
|
|
|
NM_000368.5(TSC1):c.2333A>T (p.Gln778Leu)
|
rs1845445850
|
|
NM_000368.5(TSC1):c.2335A>C (p.Ile779Leu)
|
|
|
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val)
|
rs1845445721
|
|
NM_000368.5(TSC1):c.2337C>G (p.Ile779Met)
|
|
|
NM_000368.5(TSC1):c.2337C>T (p.Ile779=)
|
|
|
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.2340_2343del (p.Arg780fs)
|
rs1588301374
|
|
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)
|
rs118203680
|
|
NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs)
|
rs1554814935
|
|
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs)
|
rs397514855
|
|
NM_000368.5(TSC1):c.2343G>A (p.Gln781=)
|
rs2131731368
|
|
NM_000368.5(TSC1):c.2344C>G (p.Leu782Val)
|
|
|
NM_000368.5(TSC1):c.2345T>A (p.Leu782Gln)
|
rs1845444954
|
|
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)
|
rs118203681
|
|
NM_000368.5(TSC1):c.2349G>A (p.Gln783=)
|
|
|
NM_000368.5(TSC1):c.2350C>T (p.His784Tyr)
|
|
|
NM_000368.5(TSC1):c.2354A>G (p.Asp785Gly)
|
rs2131730508
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2356del (p.Arg786fs)
|
|
|
NM_000368.5(TSC1):c.2357G>T (p.Arg786Leu)
|
|
|
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys)
|
rs1564477097
|
|
NM_000368.5(TSC1):c.235T>C (p.Tyr79His)
|
rs1846820628
|
|
NM_000368.5(TSC1):c.2360del (p.Glu787fs)
|
rs1588301269
|
|
NM_000368.5(TSC1):c.2361G>A (p.Glu787=)
|
|
|
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp)
|
rs1564477079
|
|
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)
|
rs118203685
|
|
NM_000368.5(TSC1):c.2364A>G (p.Glu788=)
|
rs1588301218
|
|
NM_000368.5(TSC1):c.2364A>T (p.Glu788Asp)
|
|
|
NM_000368.5(TSC1):c.236A>G (p.Tyr79Cys)
|
rs373855276
|
|
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=)
|
rs1845442273
|
|
NM_000368.5(TSC1):c.2373C>T (p.Asn791=)
|
|
|
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)
|
rs796053460
|
|
NM_000368.5(TSC1):c.2378G>A (p.Ser793Asn)
|
rs2131728548
|
|
NM_000368.5(TSC1):c.237T>C (p.Tyr79=)
|
rs761596603
|
|
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys)
|
rs781371665
|
|
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter)
|
rs781371665
|
|
NM_000368.5(TSC1):c.2389C>A (p.Gln797Lys)
|
rs397514862
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.238G>A (p.Val80Met)
|
rs1588355807
|
|
NM_000368.5(TSC1):c.238del (p.Val80fs)
|
|
|
NM_000368.5(TSC1):c.2390A>G (p.Gln797Arg)
|
|
|
NM_000368.5(TSC1):c.2390A>T (p.Gln797Leu)
|
rs2131727903
|
|
NM_000368.5(TSC1):c.2391+10G>T
|
rs2131727428
|
|
NM_000368.5(TSC1):c.2391+11C>T
|
|
|
NM_000368.5(TSC1):c.2391+12A>C
|
rs2131727338
|
|
NM_000368.5(TSC1):c.2391+12A>G
|
rs2131727338
|
|
NM_000368.5(TSC1):c.2391+13G>A
|
|
|
NM_000368.5(TSC1):c.2391+16C>A
|
|
|
NM_000368.5(TSC1):c.2391+16C>T
|
rs377005728
|
|
NM_000368.5(TSC1):c.2391+19G>A
|
|
|
NM_000368.5(TSC1):c.2391+1G>A
|
rs1060503224
|
|
NM_000368.5(TSC1):c.2391+1G>C
|
rs1060503224
|
|
NM_000368.5(TSC1):c.2391+1G>T
|
|
|
NM_000368.5(TSC1):c.2391+8C>T
|
rs1554814904
|
|
NM_000368.5(TSC1):c.2391+9T>G
|
rs1564476986
|
|
NM_000368.5(TSC1):c.2391G>T (p.Gln797His)
|
|
|
NM_000368.5(TSC1):c.2392-10C>G
|
rs2131711171
|
|
NM_000368.5(TSC1):c.2392-12C>G
|
rs1845382479
|
|
NM_000368.5(TSC1):c.2392-13T>A
|
|
|
NM_000368.5(TSC1):c.2392-15C>G
|
|
|
NM_000368.5(TSC1):c.2392-15C>T
|
|
|
NM_000368.5(TSC1):c.2392-16A>T
|
|
|
NM_000368.5(TSC1):c.2392-17C>T
|
rs2131711576
|
|
NM_000368.5(TSC1):c.2392-1G>C
|
|
|
NM_000368.5(TSC1):c.2392-1del
|
rs2131710574
|
|
NM_000368.5(TSC1):c.2392-20G>A
|
|
|
NM_000368.5(TSC1):c.2392-3C>T
|
rs561093328
|
|
NM_000368.5(TSC1):c.2392-5G>A
|
rs1463016849
|
|
NM_000368.5(TSC1):c.2392-6G>A
|
|
|
NM_000368.5(TSC1):c.2392-6_2398del
|
|
|
NM_000368.5(TSC1):c.2392-7T>C
|
rs1554814693
|
|
NM_000368.5(TSC1):c.2392-8T>C
|
rs1255802643
|
|
NM_000368.5(TSC1):c.2392-8_2392-7del
|
rs1554814696
|
|
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met)
|
rs1331635112
|
|
NM_000368.5(TSC1):c.2397G>A (p.Lys799=)
|
|
|
NM_000368.5(TSC1):c.2398C>T (p.Leu800=)
|
rs2131709896
|
|
NM_000368.5(TSC1):c.239T>C (p.Val80Ala)
|
|
|
NM_000368.5(TSC1):c.23G>A (p.Gly8Glu)
|
rs1269896419
|
|
NM_000368.5(TSC1):c.23G>T (p.Gly8Val)
|
rs1269896419
|
|
NM_000368.5(TSC1):c.2400G>A (p.Leu800=)
|
rs2131709742
|
|
NM_000368.5(TSC1):c.2400G>C (p.Leu800=)
|
|
|
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly)
|
|
|
NM_000368.5(TSC1):c.2405dup (p.Asp802fs)
|
|
|
NM_000368.5(TSC1):c.2412G>A (p.Arg804=)
|
rs1554814676
|
|
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp)
|
rs1845380748
|
|
NM_000368.5(TSC1):c.2416A>G (p.Met806Val)
|
rs1845380611
|
|
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr)
|
rs2131708510
|
|
NM_000368.5(TSC1):c.2419A>G (p.Ile807Val)
|
rs2131708365
|
|
NM_000368.5(TSC1):c.2419_2420dup (p.Ala808fs)
|
|
|
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)
|
rs118203690
|
|
NM_000368.5(TSC1):c.2421T>A (p.Ile807=)
|
rs754248661
|
|
NM_000368.5(TSC1):c.2424G>T (p.Ala808=)
|
rs200651872
|
|
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys)
|
rs118203692
|
|
NM_000368.5(TSC1):c.2427G>A (p.Glu809=)
|
rs2131707778
|
|
NM_000368.5(TSC1):c.2428C>G (p.Leu810Val)
|
|
|
NM_000368.5(TSC1):c.2429T>G (p.Leu810Arg)
|
|
|
NM_000368.5(TSC1):c.2430G>A (p.Leu810=)
|
rs2131707611
|
|
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
NM_000368.5(TSC1):c.2435T>C (p.Ile812Thr)
|
|
|
NM_000368.5(TSC1):c.2436A>G (p.Ile812Met)
|
|
|
NM_000368.5(TSC1):c.2438A>G (p.Glu813Gly)
|
rs1554814657
|
|
NM_000368.5(TSC1):c.243C>T (p.Gly81=)
|
rs1588355789
|
|
NM_000368.5(TSC1):c.2440C>T (p.Leu814=)
|
rs199517042
|
|
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer)
|
rs1588299201
|
|
NM_000368.5(TSC1):c.2442G>A (p.Leu814=)
|
rs2131706727
|
|
NM_000368.5(TSC1):c.2443AAG[1] (p.Lys816del)
|
rs1564476060
|
|
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr)
|
rs1588299170
|
|
NM_000368.5(TSC1):c.2445G>C (p.Lys815Asn)
|
rs1845377926
|
|
NM_000368.5(TSC1):c.2446_2447delinsGC (p.Lys816Ala)
|
|
|
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.2450C>T (p.Ala817Val)
|
rs1845377267
|
|
NM_000368.5(TSC1):c.2451CAA[2] (p.Asn819del)
|
rs1588299112
|
|
NM_000368.5(TSC1):c.2452A>G (p.Asn818Asp)
|
|
|
NM_000368.5(TSC1):c.2453del (p.Asn818fs)
|
|
|
NM_000368.5(TSC1):c.2454C>A (p.Asn818Lys)
|
rs1014587956
|
|
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys)
|
rs1014587956
|
|
NM_000368.5(TSC1):c.2455A>G (p.Asn819Asp)
|
|
|
NM_000368.5(TSC1):c.2457C>T (p.Asn819=)
|
rs1471536624
|
|
NM_000368.5(TSC1):c.2458A>G (p.Lys820Glu)
|
rs1845376841
|
|
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)
|
rs1369700443
|
|
NM_000368.5(TSC1):c.2461G>A (p.Val821Met)
|
rs1845376276
|
|
NM_000368.5(TSC1):c.2461G>C (p.Val821Leu)
|
|
|
NM_000368.5(TSC1):c.2461_2463del (p.Val821del)
|
|
|
NM_000368.5(TSC1):c.2463G>A (p.Val821=)
|
rs764014190
|
|
NM_000368.5(TSC1):c.2463G>C (p.Val821=)
|
rs764014190
|
|
NM_000368.5(TSC1):c.2463_2466del (p.Cys822fs)
|
|
|
NM_000368.5(TSC1):c.2467C>G (p.His823Asp)
|
|
|
NM_000368.5(TSC1):c.2469C>T (p.His823=)
|
|
|
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)
|
rs1554814639
|
|
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer)
|
rs118203697
|
|
NM_000368.5(TSC1):c.2470_2479del (p.Thr824fs)
|
|
|
NM_000368.5(TSC1):c.2471C>A (p.Thr824Asn)
|
rs1845375284
|
|
NM_000368.5(TSC1):c.2472T>A (p.Thr824=)
|
rs762811821
|
|
NM_000368.5(TSC1):c.2472T>G (p.Thr824=)
|
rs762811821
|
|
NM_000368.5(TSC1):c.2474_2478del (p.Glu825fs)
|
|
|
NM_000368.5(TSC1):c.2477_2480dup (p.Leu828fs)
|
rs2131704033
|
|
NM_000368.5(TSC1):c.2478G>A (p.Leu826=)
|
rs149719514
|
|
NM_000368.5(TSC1):c.247G>A (p.Ala83Thr)
|
rs76667066
|
|
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro)
|
rs76667066
|
|
NM_000368.5(TSC1):c.2480T>C (p.Leu827Pro)
|
rs1845374191
|
|
NM_000368.5(TSC1):c.2484C>T (p.Leu828=)
|
|
|
NM_000368.5(TSC1):c.2486G>A (p.Ser829Asn)
|
rs1202468122
|
|
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)
|
rs1564475884
|
|
NM_000368.5(TSC1):c.248C>A (p.Ala83Asp)
|
rs1588355749
|
|
NM_000368.5(TSC1):c.248C>T (p.Ala83Val)
|
rs1588355749
|
|
NM_000368.5(TSC1):c.2490G>A (p.Gln830=)
|
rs2131703243
|
|
NM_000368.5(TSC1):c.2491G>A (p.Val831Ile)
|
rs773279842
|
|
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe)
|
rs773279842
|
|
NM_000368.5(TSC1):c.2498_2499inv (p.Gln833Leu)
|
|
|
NM_000368.5(TSC1):c.2499A>G (p.Gln833=)
|
rs1554814615
|
|
NM_000368.5(TSC1):c.24G>C (p.Gly8=)
|
|
|
NM_000368.5(TSC1):c.24G>T (p.Gly8=)
|
rs2132296659
|
|
NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs)
|
rs1554821022
|
|
NM_000368.5(TSC1):c.2502+11del
|
|
|
NM_000368.5(TSC1):c.2502+17C>A
|
|
|
NM_000368.5(TSC1):c.2502+1G>A
|
|
|
NM_000368.5(TSC1):c.2502+1G>T
|
|
|
NM_000368.5(TSC1):c.2502+2_2502+9del
|
rs1588298866
|
|
NM_000368.5(TSC1):c.2502+8G>T
|
rs2131702325
|
|
NM_000368.5(TSC1):c.2502+8_2502+10del
|
rs762882968
|
|
NM_000368.5(TSC1):c.2502G>A (p.Lys834=)
|
|
|
NM_000368.5(TSC1):c.2503-10T>A
|
rs2131690157
|
|
NM_000368.5(TSC1):c.2503-11T>A
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-11T>G
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-12T>C
|
rs765263617
|
|
NM_000368.5(TSC1):c.2503-12T>G
|
rs765263617
|
|
NM_000368.5(TSC1):c.2503-14T>C
|
|
|
NM_000368.5(TSC1):c.2503-14T>G
|
|
|
NM_000368.5(TSC1):c.2503-15A>C
|
|
|
NM_000368.5(TSC1):c.2503-16C>A
|
rs763538307
|
|
NM_000368.5(TSC1):c.2503-16C>G
|
|
|
NM_000368.5(TSC1):c.2503-16C>T
|
|
|
NM_000368.5(TSC1):c.2503-1G>A
|
|
|
NM_000368.5(TSC1):c.2503-1G>C
|
rs118203705
|
|
NM_000368.5(TSC1):c.2503-2A>G
|
rs118203704
|
|
NM_000368.5(TSC1):c.2503-3T>C
|
rs1355806067
|
|
NM_000368.5(TSC1):c.2503-4T>C
|
rs772414581
|
|
NM_000368.5(TSC1):c.2503-7del
|
|
|
NM_000368.5(TSC1):c.2503-8T>C
|
|
|
NM_000368.5(TSC1):c.2503-9T>G
|
rs1845337720
|
|
NM_000368.5(TSC1):c.2506T>C (p.Ser836Pro)
|
rs1845336311
|
|
NM_000368.5(TSC1):c.2506T>G (p.Ser836Ala)
|
|
|
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)
|
rs118203706
|
|
NM_000368.5(TSC1):c.2508A>C (p.Ser836=)
|
rs1554814456
|
|
NM_000368.5(TSC1):c.2508A>G (p.Ser836=)
|
rs1554814456
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.2510dup (p.Asn837fs)
|
rs118203709
|
|
NM_000368.5(TSC1):c.2511C>T (p.Asn837=)
|
rs1554814448
|
|
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly)
|
rs1845335475
|
|
NM_000368.5(TSC1):c.2513G>A (p.Ser838Asn)
|
rs1060503208
|
|
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr)
|
rs1060503208
|
|
NM_000368.5(TSC1):c.2514T>C (p.Ser838=)
|
rs786203259
|
|
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys)
|
rs2131689008
|
|
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs)
|
rs794727320
|
|
NM_000368.5(TSC1):c.2517G>A (p.Glu839=)
|
rs1554814437
|
|
NM_000368.5(TSC1):c.2520G>C (p.Ser840=)
|
rs547498792
|
|
NM_000368.5(TSC1):c.2520G>T (p.Ser840=)
|
|
|
NM_000368.5(TSC1):c.2521G>T (p.Val841Phe)
|
rs1343088775
|
|
NM_000368.5(TSC1):c.2523C>T (p.Val841=)
|
rs397514825
|
|
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)
|
rs1447417010
|
|
NM_000368.5(TSC1):c.2532G>A (p.Gln844=)
|
rs2131688269
|
|
NM_000368.5(TSC1):c.2538G>A (p.Glu846=)
|
|
|
NM_000368.5(TSC1):c.253A>G (p.Thr85Ala)
|
rs2132236558
|
|
NM_000368.5(TSC1):c.2545_2566del (p.Asn849fs)
|
rs1564474974
|
|
NM_000368.5(TSC1):c.2547C>A (p.Asn849Lys)
|
rs1554814418
|
|
NM_000368.5(TSC1):c.2547C>G (p.Asn849Lys)
|
rs1554814418
|
|
NM_000368.5(TSC1):c.2547C>T (p.Asn849=)
|
rs1554814418
|
|
NM_000368.5(TSC1):c.2547del (p.Asn849fs)
|
rs2131687967
|
|
NM_000368.5(TSC1):c.2548_2554del (p.Arg850fs)
|
|
|
NM_000368.5(TSC1):c.2549G>A (p.Arg850Lys)
|
rs1060503195
|
|
NM_000368.5(TSC1):c.2551C>G (p.Gln851Glu)
|
rs1588297391
|
|
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter)
|
rs1588297391
|
|
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro)
|
|
|
NM_000368.5(TSC1):c.2556G>A (p.Leu852=)
|
|
|
NM_000368.5(TSC1):c.2556G>T (p.Leu852=)
|
rs770381040
|
|
NM_000368.5(TSC1):c.2556del (p.Leu853fs)
|
rs2131687509
|
|
NM_000368.5(TSC1):c.2557T>C (p.Leu853=)
|
rs2131687370
|
|
NM_000368.5(TSC1):c.2559_2560insAA (p.Val854fs)
|
rs2131687178
|
|
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)
|
rs118203711
|
|
NM_000368.5(TSC1):c.255T>C (p.Thr85=)
|
rs1060504856
|
|
NM_000368.5(TSC1):c.2560G>A (p.Val854Ile)
|
|
|
NM_000368.5(TSC1):c.2564T>C (p.Leu855Pro)
|
rs1845331236
|
|
NM_000368.5(TSC1):c.2565T>A (p.Leu855=)
|
rs1845331038
|
|
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys)
|
rs1463772907
|
|
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile)
|
rs1845329722
|
|
NM_000368.5(TSC1):c.2574C>A (p.Val858=)
|
rs1588297282
|
|
NM_000368.5(TSC1):c.2576A>G (p.Asn859Ser)
|
rs2131686192
|
|
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys)
|
rs1169898186
|
|
NM_000368.5(TSC1):c.2578G>T (p.Glu860Ter)
|
|
|
NM_000368.5(TSC1):c.257G>A (p.Arg86His)
|
rs1846818019
|
|
NM_000368.5(TSC1):c.2580G>A (p.Glu860=)
|
rs1845329120
|
|
NM_000368.5(TSC1):c.2582del (p.Leu861fs)
|
rs397514865
|
|
NM_000368.5(TSC1):c.2583C>A (p.Leu861=)
|
|
|
NM_000368.5(TSC1):c.2587T>C (p.Leu863=)
|
|
|
NM_000368.5(TSC1):c.2588del (p.Leu863fs)
|
|
|
NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter)
|
rs1845328711
|
|
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)
|
rs886039662
|
|
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter)
|
rs2131685383
|
|
NM_000368.5(TSC1):c.25G>A (p.Glu9Lys)
|
|
|
NM_000368.5(TSC1):c.2601G>A (p.Gln867=)
|
rs2131685313
|
|
NM_000368.5(TSC1):c.2604C>G (p.Asn868Lys)
|
|
|
NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter)
|
rs1845327789
|
|
NM_000368.5(TSC1):c.2606A>G (p.Lys869Arg)
|
rs1588297197
|
|
NM_000368.5(TSC1):c.2607G>A (p.Lys869=)
|
rs1845327520
|
|
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn)
|
rs1845327520
|
|
NM_000368.5(TSC1):c.2609A>G (p.His870Arg)
|
rs1845327392
|
|
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)
|
rs397514776
|
|
NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter)
|
rs1166302175
|
|
NM_000368.5(TSC1):c.2612C>T (p.Ser871Leu)
|
rs1166302175
|
|
NM_000368.5(TSC1):c.2613A>G (p.Ser871=)
|
rs1031508405
|
|
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn)
|
rs746607455
|
|
NM_000368.5(TSC1):c.2618C>A (p.Thr873Asn)
|
|
|
NM_000368.5(TSC1):c.2618C>T (p.Thr873Ile)
|
|
|
NM_000368.5(TSC1):c.261A>G (p.Leu87=)
|
rs1407780510
|
|
NM_000368.5(TSC1):c.261dup (p.Ser88fs)
|
rs1588355628
|
|
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro)
|
rs1554814368
|
|
NM_000368.5(TSC1):c.2621C>T (p.Thr874Ile)
|
rs2131684508
|
|
NM_000368.5(TSC1):c.2622A>G (p.Thr874=)
|
rs2131684460
|
|
NM_000368.5(TSC1):c.2625+10G>T
|
|
|
NM_000368.5(TSC1):c.2625+11G>A
|
|
|
NM_000368.5(TSC1):c.2625+14C>G
|
rs757876250
|
|
NM_000368.5(TSC1):c.2625+17del
|
|
|
NM_000368.5(TSC1):c.2625+1G>T
|
|
|
NM_000368.5(TSC1):c.2625+20C>G
|
rs2131683620
|
|
NM_000368.5(TSC1):c.2625+357_2625+372del
|
rs1845301667
|
|
NM_000368.5(TSC1):c.2625+367A>G
|
rs1564474542
|
|
NM_000368.5(TSC1):c.2625+367del
|
rs2131679212
|
|
NM_000368.5(TSC1):c.2625+3A>G
|
rs1845325976
|
|
NM_000368.5(TSC1):c.2625+4T>A
|
rs1588297117
|
|
NM_000368.5(TSC1):c.2625+4T>G
|
rs1588297117
|
|
NM_000368.5(TSC1):c.2625+7C>T
|
rs2131684063
|
|
NM_000368.5(TSC1):c.2625+9G>A
|
|
|
NM_000368.5(TSC1):c.2625+9G>C
|
rs2131684014
|
|
NM_000368.5(TSC1):c.2625+9G>T
|
rs2131684014
|
|
NM_000368.5(TSC1):c.2625G>T (p.Lys875Asn)
|
rs777437357
|
|
NM_000368.5(TSC1):c.2626-10T>G
|
|
|
NM_000368.5(TSC1):c.2626-10_2626-9insG
|
|
|
NM_000368.5(TSC1):c.2626-14_2626-4dup
|
|
|
NM_000368.5(TSC1):c.2626-15_2626-4del
|
|
|
NM_000368.5(TSC1):c.2626-1G>A
|
rs397514847
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-2A>C
|
rs118203717
|
|
NM_000368.5(TSC1):c.2626-2A>G
|
rs118203717
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insT
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTTT
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-3dup
|
rs1554813639
|
|
NM_000368.5(TSC1):c.2626-4T>A
|
rs777386691
|
|
NM_000368.5(TSC1):c.2626-4_2626-3insTTC
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5T>G
|
rs1444272064
|
|
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.2626-6T>C
|
|
|
NM_000368.5(TSC1):c.2626-6_2626-5insTC
|
rs1256355250
|
|
NM_000368.5(TSC1):c.2626-8T>C
|
rs1588291364
|
|
NM_000368.5(TSC1):c.2626-9T>C
|
rs1588291375
|
|
NM_000368.5(TSC1):c.2626-9_2626-8insTG
|
rs1251149647
|
|
NM_000368.5(TSC1):c.2626G>A (p.Glu876Lys)
|
rs747602915
|
|
NM_000368.5(TSC1):c.2628A>G (p.Glu876=)
|
rs1588291185
|
|
NM_000368.5(TSC1):c.2629G>A (p.Val877Ile)
|
rs1321117036
|
|
NM_000368.5(TSC1):c.2629G>C (p.Val877Leu)
|
|
|
NM_000368.5(TSC1):c.262T>G (p.Ser88Ala)
|
|
|
NM_000368.5(TSC1):c.2630T>C (p.Val877Ala)
|
rs1564472328
|
|
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.2635del (p.Glu878_Met879insTer)
|
rs2131639772
|
|
NM_000368.5(TSC1):c.2635dup (p.Met879fs)
|
|
|
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2637G>C (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2639T>C (p.Met880Thr)
|
|
|
NM_000368.5(TSC1):c.263C>G (p.Ser88Cys)
|
rs1588355606
|
|
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile)
|
rs1218889799
|
|
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile)
|
rs1218889799
|
|
NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter)
|
rs1057520444
|
|
NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr)
|
rs1271658593
|
|
NM_000368.5(TSC1):c.2645C>G (p.Ala882Gly)
|
|
|
NM_000368.5(TSC1):c.2645C>T (p.Ala882Val)
|
rs1554813594
|
|
NM_000368.5(TSC1):c.2646C>A (p.Ala882=)
|
|
|
NM_000368.5(TSC1):c.2649C>G (p.Ala883=)
|
rs1279318276
|
|
NM_000368.5(TSC1):c.2649del (p.Tyr884fs)
|
|
|
NM_000368.5(TSC1):c.264C>T (p.Ser88=)
|
|
|
NM_000368.5(TSC1):c.2652T>C (p.Tyr884=)
|
|
|
NM_000368.5(TSC1):c.2652_2664del (p.Ala883_Tyr884insTer)
|
|
|
NM_000368.5(TSC1):c.265A>G (p.Ile89Val)
|
rs1564501798
|
|
NM_000368.5(TSC1):c.2662C>T (p.Leu888=)
|
|
|
NM_000368.5(TSC1):c.2664A>G (p.Leu888=)
|
rs2131638076
|
|
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
|
|
|
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile)
|
rs587778724
|
|
NM_000368.5(TSC1):c.2667A>C (p.Glu889Asp)
|
|
|
NM_000368.5(TSC1):c.2667A>G (p.Glu889=)
|
rs1554813546
|
|
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu)
|
rs543892243
|
|
NM_000368.5(TSC1):c.266T>C (p.Ile89Thr)
|
rs1564501791
|
|
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2671_2674del (p.Asn891fs)
|
rs1845149321
|
|
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser)
|
rs1060503203
|
|
NM_000368.5(TSC1):c.2672del (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2674A>G (p.Arg892Gly)
|
|
|
NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter)
|
rs2131637455
|
|
NM_000368.5(TSC1):c.2674del (p.Arg892fs)
|
rs2131637518
|
|
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)
|
rs118203726
|
|
NM_000368.5(TSC1):c.2679C>T (p.Ser893=)
|
rs374311456
|
|
NM_000368.5(TSC1):c.267C>G (p.Ile89Met)
|
rs1846816338
|
|
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr)
|
rs1845148693
|
|
NM_000368.5(TSC1):c.2680del (p.His894fs)
|
|
|
NM_000368.5(TSC1):c.2681A>G (p.His894Arg)
|
rs1588290830
|
|
NM_000368.5(TSC1):c.2681dup (p.His894fs)
|
|
|
NM_000368.5(TSC1):c.2682T>C (p.His894=)
|
rs771479673
|
|
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile)
|
rs576476807
|
|
NM_000368.5(TSC1):c.2684T>C (p.Val895Ala)
|
rs1845148114
|
|
NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile)
|
rs377132822
|
|
NM_000368.5(TSC1):c.2686C>T (p.Leu896Phe)
|
rs377132822
|
|
NM_000368.5(TSC1):c.2688C>G (p.Leu896=)
|
rs2131636756
|
|
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)
|
rs118203727
|
|
NM_000368.5(TSC1):c.268C>T (p.Leu90Phe)
|
rs2132235523
|
|
NM_000368.5(TSC1):c.2691G>A (p.Gln897=)
|
|
|
NM_000368.5(TSC1):c.2691G>T (p.Gln897His)
|
rs372915963
|
|
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2695A>T (p.Thr899Ser)
|
|
|
NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu)
|
rs397514871
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.269T>C (p.Leu90Pro)
|
|
|
NM_000368.5(TSC1):c.2700G>C (p.Gln900His)
|
rs560986491
|
|
NM_000368.5(TSC1):c.2702G>A (p.Arg901Lys)
|
|
|
NM_000368.5(TSC1):c.2703G>A (p.Arg901=)
|
|
|
NM_000368.5(TSC1):c.2707G>C (p.Asp903His)
|
|
|
NM_000368.5(TSC1):c.2709T>A (p.Asp903Glu)
|
|
|
NM_000368.5(TSC1):c.2709T>C (p.Asp903=)
|
rs2131635426
|
|
NM_000368.5(TSC1):c.270C>G (p.Leu90=)
|
rs142325036
|
|
NM_000368.5(TSC1):c.270_272dup (p.Ser91_Leu92insSer)
|
|
|
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala)
|
rs1554813482
|
|
NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn)
|
rs1564471932
|
|
NM_000368.5(TSC1):c.2711C>T (p.Thr904Ile)
|
rs1564471932
|
|
NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs)
|
rs1588290658
|
|
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)
|
rs118203732
|
|
NM_000368.5(TSC1):c.2718A>G (p.Gln906=)
|
rs1845144230
|
|
NM_000368.5(TSC1):c.271T>G (p.Ser91Ala)
|
rs2132235320
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.271del (p.Ser91fs)
|
rs1588355566
|
|
NM_000368.5(TSC1):c.2720A>C (p.Lys907Thr)
|
|
|
NM_000368.5(TSC1):c.2721del (p.Lys907fs)
|
rs1588290641
|
|
NM_000368.5(TSC1):c.2722C>A (p.Arg908=)
|
|
|
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu)
|
rs118203361
|
|
NM_000368.5(TSC1):c.2730G>A (p.Leu910=)
|
rs1845142584
|
|
NM_000368.5(TSC1):c.2732A>C (p.Glu911Ala)
|
|
|
NM_000368.5(TSC1):c.2736G>A (p.Leu912=)
|
rs1588290587
|
|
NM_000368.5(TSC1):c.2739A>G (p.Glu913=)
|
rs750238092
|
|
NM_000368.5(TSC1):c.273G>C (p.Ser91=)
|
rs115097221
|
|
NM_000368.5(TSC1):c.273G>T (p.Ser91=)
|
|
|
NM_000368.5(TSC1):c.2741C>A (p.Ser914Tyr)
|
|
|
NM_000368.5(TSC1):c.2741C>T (p.Ser914Phe)
|
|
|
NM_000368.5(TSC1):c.2743C>T (p.His915Tyr)
|
|
|
NM_000368.5(TSC1):c.2743_2747del (p.His915fs)
|
rs2131633443
|
|
NM_000368.5(TSC1):c.2744dup (p.His915fs)
|
|
|
NM_000368.5(TSC1):c.2746C>T (p.Leu916=)
|
rs2131633483
|
|
NM_000368.5(TSC1):c.2748G>A (p.Leu916=)
|
rs1588290553
|
|
NM_000368.5(TSC1):c.2748G>C (p.Leu916=)
|
rs1588290553
|
|
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)
|
rs397514873
|
|
NM_000368.5(TSC1):c.2753A>C (p.Lys918Thr)
|
rs757025842
|
|
NM_000368.5(TSC1):c.2753A>G (p.Lys918Arg)
|
rs757025842
|
|
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln)
|
rs1319954878
|
|
NM_000368.5(TSC1):c.2755A>G (p.Lys919Glu)
|
rs1319954878
|
|
NM_000368.5(TSC1):c.2756A>C (p.Lys919Thr)
|
rs1324456435
|
|
NM_000368.5(TSC1):c.2757A>G (p.Lys919=)
|
rs2131632795
|
|
NM_000368.5(TSC1):c.275T>G (p.Leu92Ter)
|
rs2132234958
|
|
NM_000368.5(TSC1):c.2760C>T (p.Asp920=)
|
rs1226490074
|
|
NM_000368.5(TSC1):c.2761C>A (p.His921Asn)
|
rs1588290485
|
|
NM_000368.5(TSC1):c.2761C>T (p.His921Tyr)
|
|
|
NM_000368.5(TSC1):c.2762A>G (p.His921Arg)
|
rs1845140377
|
|
NM_000368.5(TSC1):c.2764C>T (p.Leu922Phe)
|
rs1011595359
|
|
NM_000368.5(TSC1):c.2768T>C (p.Leu923Pro)
|
rs2131632108
|
|
NM_000368.5(TSC1):c.276A>C (p.Leu92Phe)
|
rs1846814862
|
|
NM_000368.5(TSC1):c.276dup (p.Leu93fs)
|
rs118203362
|
|
NM_000368.5(TSC1):c.2770T>G (p.Leu924Val)
|
|
|
NM_000368.5(TSC1):c.2771_2772insTTTTTATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTAAAGGTAACATTCATCAGTAGCGCAGGTTGTTTTTGTATTGGGGGGTAAATCCTCAAGTCAAGCTCGACAGAANNNNNNNNNNTCTCGCTCTCGTGTCCTCGGTAGACGCCGTGTTGGGCCTCCCACAGTGCTGGGATTACTGGCGTGCGCCAGCGCGCCCGGCCGAAAGACCACCTTCTTTT (p.Leu924delinsPhePheTyrPheLeuPhePhePhePheLeuPhePhePheTer)
|
|
|
NM_000368.5(TSC1):c.2774A>T (p.Glu925Val)
|
rs2131631775
|
|
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)
|
rs397514879
|
|
NM_000368.5(TSC1):c.2778G>A (p.Gln926=)
|
rs1554813423
|
|
NM_000368.5(TSC1):c.2778G>C (p.Gln926His)
|
rs1554813423
|
|
NM_000368.5(TSC1):c.277_278inv (p.Leu93Arg)
|
|
|
NM_000368.5(TSC1):c.2781G>T (p.Lys927Asn)
|
rs118203733
|
|
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=)
|
rs753980869
|
|
NM_000368.5(TSC1):c.2788C>G (p.Leu930Val)
|
|
|
NM_000368.5(TSC1):c.2788C>T (p.Leu930=)
|
|
|
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln)
|
rs118203363
|
|
NM_000368.5(TSC1):c.278T>C (p.Leu93Pro)
|
rs118203363
|
|
NM_000368.5(TSC1):c.2790A>G (p.Leu930=)
|
rs2131631187
|
|
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln)
|
rs1845137395
|
|
NM_000368.5(TSC1):c.2792A>C (p.Glu931Ala)
|
rs1845137259
|
|
NM_000368.5(TSC1):c.2794G>A (p.Asp932Asn)
|
rs2131630999
|
|
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu)
|
rs766871150
|
|
NM_000368.5(TSC1):c.2797G>A (p.Val933Ile)
|
|
|
NM_000368.5(TSC1):c.2797G>T (p.Val933Phe)
|
rs1845136906
|
|
NM_000368.5(TSC1):c.279G>A (p.Leu93=)
|
|
|
NM_000368.5(TSC1):c.2802A>T (p.Lys934Asn)
|
|
|
NM_000368.5(TSC1):c.2803C>G (p.Leu935Val)
|
|
|
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg)
|
rs2131630651
|
|
NM_000368.5(TSC1):c.2805C>T (p.Leu935=)
|
|
|
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.2808G>A (p.Gln936=)
|
rs1588290331
|
|
NM_000368.5(TSC1):c.2809G>A (p.Ala937Thr)
|
rs1845136006
|
|
NM_000368.5(TSC1):c.2810C>T (p.Ala937Val)
|
|
|
NM_000368.5(TSC1):c.2811A>G (p.Ala937=)
|
|
|
NM_000368.5(TSC1):c.2812A>C (p.Arg938=)
|
rs1207111375
|
|
NM_000368.5(TSC1):c.2813+10A>C
|
|
|
NM_000368.5(TSC1):c.2813+2T>G
|
rs1845135533
|
|
NM_000368.5(TSC1):c.2813+5C>T
|
rs1060503223
|
|
NM_000368.5(TSC1):c.2813+6T>C
|
rs1845135110
|
|
NM_000368.5(TSC1):c.2813+9C>G
|
|
|
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys)
|
rs1249697208
|
|
NM_000368.5(TSC1):c.2814-11G>A
|
rs1287695326
|
|
NM_000368.5(TSC1):c.2814-12T>C
|
|
|
NM_000368.5(TSC1):c.2814-13C>T
|
rs1393952049
|
|
NM_000368.5(TSC1):c.2814-16G>A
|
|
|
NM_000368.5(TSC1):c.2814-17T>C
|
rs2131629273
|
|
NM_000368.5(TSC1):c.2814-18C>G
|
|
|
NM_000368.5(TSC1):c.2814-18C>T
|
rs1588290161
|
|
NM_000368.5(TSC1):c.2814-19G>A
|
rs2131629351
|
|
NM_000368.5(TSC1):c.2814-19G>C
|
|
|
NM_000368.5(TSC1):c.2814-1G>A
|
|
|
NM_000368.5(TSC1):c.2814-2A>G
|
rs1588290111
|
|
NM_000368.5(TSC1):c.2814-4T>C
|
|
|
NM_000368.5(TSC1):c.2814-7C>G
|
|
|
NM_000368.5(TSC1):c.2814-7C>T
|
rs1060504851
|
|
NM_000368.5(TSC1):c.2814A>C (p.Arg938Ser)
|
rs1439157444
|
|
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg)
|
rs1564471685
|
|
NM_000368.5(TSC1):c.2816G>A (p.Gly939Glu)
|
|
|
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val)
|
rs1350545510
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000368.5(TSC1):c.2819A>C (p.Gln940Pro)
|
rs1845131755
|
|
NM_000368.5(TSC1):c.281G>A (p.Gly94Asp)
|
rs2132234443
|
|
NM_000368.5(TSC1):c.281G>T (p.Gly94Val)
|
|
|
NM_000368.5(TSC1):c.2820G>A (p.Gln940=)
|
|
|
NM_000368.5(TSC1):c.2821C>T (p.Leu941=)
|
rs2131628647
|
|
NM_000368.5(TSC1):c.2823G>A (p.Leu941=)
|
|
|
NM_000368.5(TSC1):c.2824C>G (p.Gln942Glu)
|
|
|
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
|
|
|
NM_000368.5(TSC1):c.2828C>T (p.Ala943Val)
|
|
|
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)
|
rs751362258
|
|
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)
|
|
|
NM_000368.5(TSC1):c.2832A>G (p.Ala944=)
|
rs2131628099
|
|
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly)
|
rs1060503225
|
|
NM_000368.5(TSC1):c.2836A>T (p.Ser946Cys)
|
rs1060503225
|
|
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn)
|
rs1845130264
|
|
NM_000368.5(TSC1):c.2837G>C (p.Ser946Thr)
|
|
|
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly)
|
rs1845130132
|
|
NM_000368.5(TSC1):c.2841G>A (p.Arg947=)
|
rs1417111404
|
|
NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser)
|
rs1417111404
|
|
NM_000368.5(TSC1):c.2841G>T (p.Arg947Ser)
|
rs1417111404
|
|
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys)
|
rs989183765
|
|
NM_000368.5(TSC1):c.2843A>T (p.Tyr948Phe)
|
rs989183765
|
|
NM_000368.5(TSC1):c.2844T>C (p.Tyr948=)
|
|
|
NM_000368.5(TSC1):c.2848G>A (p.Ala950Thr)
|
|
|
NM_000368.5(TSC1):c.2848G>T (p.Ala950Ser)
|
rs1845129427
|
|
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val)
|
|
|
NM_000368.5(TSC1):c.2851C>T (p.Gln951Ter)
|
|
|
NM_000368.5(TSC1):c.2853G>A (p.Gln951=)
|
rs2131627425
|
|
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu)
|
|
|
NM_000368.5(TSC1):c.2860A>G (p.Ile954Val)
|
|
|
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys)
|
rs1845129125
|
|
NM_000368.5(TSC1):c.2861_2862delinsAC (p.Ile954Asn)
|
rs1564471610
|
|
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn)
|
rs1488726432
|
|
NM_000368.5(TSC1):c.2864C>T (p.Thr955Ile)
|
|
|
NM_000368.5(TSC1):c.2867A>T (p.Gln956Leu)
|
rs1212768461
|
|
NM_000368.5(TSC1):c.2868G>A (p.Gln956=)
|
rs2131626958
|
|
NM_000368.5(TSC1):c.2869G>A (p.Val957Met)
|
|
|
NM_000368.5(TSC1):c.286G>A (p.Val96Ile)
|
|
|
NM_000368.5(TSC1):c.286G>C (p.Val96Leu)
|
rs987344953
|
|
NM_000368.5(TSC1):c.2874T>C (p.Phe958=)
|
rs2131626672
|
|
NM_000368.5(TSC1):c.2881G>A (p.Glu961Lys)
|
|
|
NM_000368.5(TSC1):c.2881G>C (p.Glu961Gln)
|
|
|
NM_000368.5(TSC1):c.2883G>C (p.Glu961Asp)
|
rs2131626309
|
|
NM_000368.5(TSC1):c.2884A>C (p.Ile962Leu)
|
rs1227198324
|
|
NM_000368.5(TSC1):c.2884A>G (p.Ile962Val)
|
rs1227198324
|
|
NM_000368.5(TSC1):c.2885T>A (p.Ile962Asn)
|
rs1438535722
|
|
NM_000368.5(TSC1):c.2885T>C (p.Ile962Thr)
|
|
|
NM_000368.5(TSC1):c.2888T>C (p.Leu963Ser)
|
rs2131626118
|
|
NM_000368.5(TSC1):c.2889A>G (p.Leu963=)
|
|
|
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn)
|
rs1033463168
|
|
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val)
|
rs1554813302
|
|
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
|
|
|
NM_000368.5(TSC1):c.2895A>T (p.Leu965Phe)
|
rs750886491
|
|
NM_000368.5(TSC1):c.2898T>C (p.Tyr966=)
|
rs1057522171
|
|
NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys)
|
|
|
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu)
|
rs138541569
|
|
NM_000368.5(TSC1):c.28C>A (p.Leu10Ile)
|
rs1399717425
|
|
NM_000368.5(TSC1):c.2903G>A (p.Arg968Lys)
|
|
|
NM_000368.5(TSC1):c.2904G>A (p.Arg968=)
|
rs1554813280
|
|
NM_000368.5(TSC1):c.2905T>C (p.Leu969=)
|
rs768350176
|
|
NM_000368.5(TSC1):c.2908G>A (p.Glu970Lys)
|
|
|
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly)
|
rs1372477238
|
|
NM_000368.5(TSC1):c.290_291del (p.Ile97fs)
|
|
|
NM_000368.5(TSC1):c.2913del (p.Asp972fs)
|
|
|
NM_000368.5(TSC1):c.2914G>A (p.Asp972Asn)
|
rs1845122540
|
|
NM_000368.5(TSC1):c.2915A>G (p.Asp972Gly)
|
rs2131625009
|
|
NM_000368.5(TSC1):c.2916T>C (p.Asp972=)
|
rs775179927
|
|
NM_000368.5(TSC1):c.291A>G (p.Ile97Met)
|
rs1588355427
|
|
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe)
|
|
|
NM_000368.5(TSC1):c.2921T>G (p.Leu974Arg)
|
rs2131624756
|
|
NM_000368.5(TSC1):c.2923C>T (p.Leu975=)
|
|
|
NM_000368.5(TSC1):c.2925G>A (p.Leu975=)
|
|
|
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)
|
rs796053448
|
|
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly)
|
rs2132233857
|
|
NM_000368.5(TSC1):c.2931del (p.Lys977fs)
|
rs1845120600
|
|
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile)
|
rs397514859
|
|
NM_000368.5(TSC1):c.2932C>T (p.Leu978Phe)
|
|
|
NM_000368.5(TSC1):c.2933T>A (p.Leu978His)
|
rs770834438
|
|
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro)
|
rs770834438
|
|
NM_000368.5(TSC1):c.2934T>C (p.Leu978=)
|
rs1554813253
|
|
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys)
|
rs1845118974
|
|
NM_000368.5(TSC1):c.2935GAA[2] (p.Glu981del)
|
rs1233796412
|
|
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys)
|
rs876658600
|
|
NM_000368.5(TSC1):c.2942A>G (p.Glu981Gly)
|
rs2131623978
|
|
NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg)
|
rs1057520508
|
|
NM_000368.5(TSC1):c.2946A>G (p.Lys982=)
|
rs1845117521
|
|
NM_000368.5(TSC1):c.2947G>A (p.Ala983Thr)
|
rs1845117262
|
|
NM_000368.5(TSC1):c.2947G>T (p.Ala983Ser)
|
rs1845117262
|
|
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.2953G>A (p.Ala985Thr)
|
rs1554813242
|
|
NM_000368.5(TSC1):c.2954C>T (p.Ala985Val)
|
|
|
NM_000368.5(TSC1):c.2958T>C (p.Ala986=)
|
|
|
NM_000368.5(TSC1):c.2958_2959insCTCCCTCTCCCTCTCCCTCTCCCACGGCCGCGGGCACCCCCCGCACACCGCCACACACCCACCCAAACCCCCAACAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCAGAAGCAGCT (p.Glu987fs)
|
|
|
NM_000368.5(TSC1):c.2958_2966dup (p.985AAE[3])
|
rs2131622960
|
|
NM_000368.5(TSC1):c.295C>T (p.Leu99=)
|
rs2132233679
|
|
NM_000368.5(TSC1):c.2960A>G (p.Glu987Gly)
|
rs867884507
|
|
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val)
|
rs1239372124
|
|
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val)
|
rs1554813219
|
|
NM_000368.5(TSC1):c.2967A>G (p.Ala989=)
|
|
|
NM_000368.5(TSC1):c.2967A>T (p.Ala989=)
|
|
|
NM_000368.5(TSC1):c.296_297del (p.Leu99fs)
|
|
|
NM_000368.5(TSC1):c.2970A>C (p.Glu990Asp)
|
|
|
NM_000368.5(TSC1):c.2972A>G (p.Glu991Gly)
|
|
|
NM_000368.5(TSC1):c.2973A>G (p.Glu991=)
|
|
|
NM_000368.5(TSC1):c.2974del (p.Arg992fs)
|
rs1554813210
|
|
NM_000368.5(TSC1):c.2975+10A>G
|
|
|
NM_000368.5(TSC1):c.2975+12G>T
|
rs1222204401
|
|
NM_000368.5(TSC1):c.2975+12_2975+13del
|
|
|
NM_000368.5(TSC1):c.2975+13A>G
|
rs1845113774
|
|
NM_000368.5(TSC1):c.2975+15C>A
|
|
|
NM_000368.5(TSC1):c.2975+15C>G
|
|
|
NM_000368.5(TSC1):c.2975+15C>T
|
|
|
NM_000368.5(TSC1):c.2975+16T>G
|
|
|
NM_000368.5(TSC1):c.2975+1G>A
|
|
|
NM_000368.5(TSC1):c.2975+20T>A
|
|
|
NM_000368.5(TSC1):c.2975+20T>G
|
|
|
NM_000368.5(TSC1):c.2975+3A>G
|
rs2131622699
|
|
NM_000368.5(TSC1):c.2975+4G>C
|
rs1057521710
|
|
NM_000368.5(TSC1):c.2975+5G>T
|
|
|
NM_000368.5(TSC1):c.2975+7A>T
|
rs2131622632
|
|
NM_000368.5(TSC1):c.2975+8C>A
|
rs1588289352
|
|
NM_000368.5(TSC1):c.2976-10T>A
|
rs913722609
|
|
NM_000368.5(TSC1):c.2976-11C>G
|
|
|
NM_000368.5(TSC1):c.2976-13G>A
|
|
|
NM_000368.5(TSC1):c.2976-13G>C
|
rs1845091594
|
|
NM_000368.5(TSC1):c.2976-14C>G
|
rs368652971
|
|
NM_000368.5(TSC1):c.2976-15C>T
|
rs1195411560
|
|
NM_000368.5(TSC1):c.2976-17C>T
|
|
|
NM_000368.5(TSC1):c.2976-4dup
|
|
|
NM_000368.5(TSC1):c.2976-7C>T
|
rs2131617134
|
|
NM_000368.5(TSC1):c.2976-8T>G
|
rs1060504858
|
|
NM_000368.5(TSC1):c.2976G>T (p.Arg992Ser)
|
rs1453837305
|
|
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)
|
|
|
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe)
|
rs1177810382
|
|
NM_000368.5(TSC1):c.2980G>C (p.Asp994His)
|
rs78868727
|
|
NM_000368.5(TSC1):c.2983T>C (p.Cys995Arg)
|
|
|
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)
|
rs144314195
|
|
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)
|
rs1554813029
|
|
NM_000368.5(TSC1):c.2987G>A (p.Cys996Tyr)
|
rs771810884
|
|
NM_000368.5(TSC1):c.2988T>C (p.Cys996=)
|
rs1588288374
|
|
NM_000368.5(TSC1):c.298C>T (p.Gln100Ter)
|
rs1846813509
|
|
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys)
|
|
|
NM_000368.5(TSC1):c.2993A>T (p.Asp998Val)
|
|
|
NM_000368.5(TSC1):c.2995G>C (p.Gly999Arg)
|
rs780224196
|
|
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val)
|
rs1845089126
|
|
NM_000368.5(TSC1):c.2997G>A (p.Gly999=)
|
rs1437222540
|
|
NM_000368.5(TSC1):c.2999G>A (p.Cys1000Tyr)
|
rs1845088618
|
|
NM_000368.5(TSC1):c.2999G>T (p.Cys1000Phe)
|
|
|
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp)
|
rs552217429
|
|
NM_000368.5(TSC1):c.3000C>T (p.Cys1000=)
|
|
|
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu)
|
|
|
NM_000368.5(TSC1):c.3004G>A (p.Asp1002Asn)
|
rs1588288289
|
|
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe)
|
rs1554812991
|
|
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=)
|
rs2131615637
|
|
NM_000368.5(TSC1):c.300G>A (p.Gln100=)
|
rs1588355421
|
|
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu)
|
rs371879917
|
|
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile)
|
rs751970451
|
|
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile)
|
rs1588288220
|
|
NM_000368.5(TSC1):c.3015A>G (p.Val1005=)
|
|
|
NM_000368.5(TSC1):c.3015A>T (p.Val1005=)
|
|
|
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=)
|
|
|
NM_000368.5(TSC1):c.3020A>G (p.His1007Arg)
|
|
|
NM_000368.5(TSC1):c.3021C>A (p.His1007Gln)
|
|
|
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=)
|
rs142954164
|
|
NM_000368.5(TSC1):c.3026A>G (p.Glu1009Gly)
|
|
|
NM_000368.5(TSC1):c.3027A>G (p.Glu1009=)
|
rs1588288126
|
|
NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly)
|
|
|
NM_000368.5(TSC1):c.3030G>A (p.Glu1010=)
|
rs118203741
|
|
NM_000368.5(TSC1):c.3034T>C (p.Ser1012Pro)
|
rs764979889
|
|
NM_000368.5(TSC1):c.3035C>T (p.Ser1012Phe)
|
|
|
NM_000368.5(TSC1):c.3039C>A (p.Gly1013=)
|
|
|
NM_000368.5(TSC1):c.3039C>T (p.Gly1013=)
|
|
|
NM_000368.5(TSC1):c.303A>G (p.Pro101=)
|
rs2132233153
|
|
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg)
|
rs2131613922
|
|
NM_000368.5(TSC1):c.3042C>A (p.His1014Gln)
|
rs1394343524
|
|
NM_000368.5(TSC1):c.3042C>T (p.His1014=)
|
rs1394343524
|
|
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser)
|
|
|
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys)
|
rs759047948
|
|
NM_000368.5(TSC1):c.3046G>T (p.Gly1016Cys)
|
rs1020905743
|
|
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys)
|
rs1554812930
|
|
NM_000368.5(TSC1):c.3049G>C (p.Glu1017Gln)
|
|
|
NM_000368.5(TSC1):c.304T>A (p.Ser102Thr)
|
rs796053453
|
|
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro)
|
rs796053453
|
|
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly)
|
rs922638686
|
|
NM_000368.5(TSC1):c.3051G>A (p.Glu1017=)
|
|
|
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu)
|
rs1317622700
|
|
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg)
|
rs2131612809
|
|
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala)
|
rs1588287982
|
|
NM_000368.5(TSC1):c.3059C>A (p.Thr1020Asn)
|
|
|
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile)
|
rs1060503214
|
|
NM_000368.5(TSC1):c.3060C>A (p.Thr1020=)
|
|
|
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)
|
rs1380396209
|
|
NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser)
|
rs1845082934
|
|
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg)
|
rs1845082733
|
|
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=)
|
rs2131612277
|
|
NM_000368.5(TSC1):c.3065G>A (p.Arg1022Lys)
|
|
|
NM_000368.5(TSC1):c.3066G>A (p.Arg1022=)
|
rs1588287932
|
|
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser)
|
rs138445573
|
|
NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu)
|
rs1554812917
|
|
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=)
|
rs1588287899
|
|
NM_000368.5(TSC1):c.3072C>T (p.Ser1024=)
|
rs1554812912
|
|
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn)
|
rs1845081620
|
|
NM_000368.5(TSC1):c.3074G>C (p.Ser1025Thr)
|
|
|
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)
|
rs533565295
|
|
NM_000368.5(TSC1):c.3076G>T (p.Ala1026Ser)
|
rs533565295
|
|
NM_000368.5(TSC1):c.3076_3077delinsTT (p.Ala1026Phe)
|
rs1588287842
|
|
NM_000368.5(TSC1):c.3079C>G (p.Arg1027Gly)
|
|
|
NM_000368.5(TSC1):c.3083G>A (p.Gly1028Asp)
|
rs1845080410
|
|
NM_000368.5(TSC1):c.3084C>T (p.Gly1028=)
|
|
|
NM_000368.5(TSC1):c.3084_3086del (p.Ser1030del)
|
rs1588287797
|
|
NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys)
|
rs2131610745
|
|
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)
|
rs796053450
|
|
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)
|
rs796053450
|
|
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
|
|
|
NM_000368.5(TSC1):c.3088A>T (p.Ser1030Cys)
|
rs1588287783
|
|
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)
|
rs118203364
|
|
NM_000368.5(TSC1):c.308G>T (p.Trp103Leu)
|
rs118203364
|
|
NM_000368.5(TSC1):c.3090T>A (p.Ser1030Arg)
|
|
|
NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg)
|
rs772043928
|
|
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser)
|
rs1015742388
|
|
NM_000368.5(TSC1):c.3099A>T (p.Arg1033Ser)
|
|
|
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)
|
rs118203365
|
|
NM_000368.5(TSC1):c.30T>A (p.Leu10=)
|
|
|
NM_000368.5(TSC1):c.3100G>C (p.Gly1034Arg)
|
|
|
NM_000368.5(TSC1):c.3101G>T (p.Gly1034Val)
|
rs1034398735
|
|
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp)
|
rs1176815392
|
|
NM_000368.5(TSC1):c.3105T>A (p.Gly1035=)
|
rs1588287659
|
|
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg)
|
rs1588287655
|
|
NM_000368.5(TSC1):c.3106_3107delinsAA (p.Gly1036Lys)
|
rs2131609182
|
|
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)
|
rs774196458
|
|
NM_000368.5(TSC1):c.3109_3111dup (p.Gly1037dup)
|
rs2131608962
|
|
NM_000368.5(TSC1):c.3111C>G (p.Gly1037=)
|
rs2131608875
|
|
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[4] (p.Ser1042_Ser1043del)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del)
|
rs2234980
|
|
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.3112AGC[9] (p.Ser1041_Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn)
|
rs1060503196
|
|
NM_000368.5(TSC1):c.3113G>T (p.Ser1038Ile)
|
rs1060503196
|
|
NM_000368.5(TSC1):c.3114C>G (p.Ser1038Arg)
|
rs1588287598
|
|
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=)
|
rs1588287598
|
|
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg)
|
rs1490199228
|
|
NM_000368.5(TSC1):c.3121A>G (p.Ser1041Gly)
|
rs1060503204
|
|
NM_000368.5(TSC1):c.3124A>G (p.Ser1042Gly)
|
rs1845075552
|
|
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)
|
rs148931779
|
|
NM_000368.5(TSC1):c.3126C>T (p.Ser1042=)
|
|
|
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly)
|
rs1554812848
|
|
NM_000368.5(TSC1):c.3128G>A (p.Ser1043Asn)
|
|
|
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)
|
rs1588287475
|
|
NM_000368.5(TSC1):c.3130G>C (p.Glu1044Gln)
|
|
|
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=)
|
rs1588287426
|
|
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)
|
rs747162992
|
|
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)
|
rs747162992
|
|
NM_000368.5(TSC1):c.3134T>A (p.Leu1045His)
|
rs2131606944
|
|
NM_000368.5(TSC1):c.3137C>T (p.Ser1046Phe)
|
rs1845071202
|
|
NM_000368.5(TSC1):c.3140C>G (p.Thr1047Ser)
|
rs587778726
|
|
NM_000368.5(TSC1):c.3141C>A (p.Thr1047=)
|
rs892228756
|
|
NM_000368.5(TSC1):c.3141C>T (p.Thr1047=)
|
rs892228756
|
|
NM_000368.5(TSC1):c.3142C>T (p.Pro1048Ser)
|
|
|
NM_000368.5(TSC1):c.3143C>G (p.Pro1048Arg)
|
|
|
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)
|
rs1203864892
|
|
NM_000368.5(TSC1):c.3144A>C (p.Pro1048=)
|
rs1554812826
|
|
NM_000368.5(TSC1):c.3144A>G (p.Pro1048=)
|
rs1554812826
|
|
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly)
|
rs2131606041
|
|
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp)
|
rs397514831
|
|
NM_000368.5(TSC1):c.314A>C (p.His105Pro)
|
rs758924121
|
|
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)
|
|
|
NM_000368.5(TSC1):c.3159C>T (p.His1053=)
|
rs778413037
|
|
NM_000368.5(TSC1):c.3160C>T (p.Gln1054Ter)
|
|
|
NM_000368.5(TSC1):c.3161A>G (p.Gln1054Arg)
|
rs1588287238
|
|
NM_000368.5(TSC1):c.3162G>A (p.Gln1054=)
|
|
|
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met)
|
rs1167652701
|
|
NM_000368.5(TSC1):c.3165G>A (p.Arg1055=)
|
rs2131604362
|
|
NM_000368.5(TSC1):c.3168A>G (p.Ala1056=)
|
rs2131604139
|
|
NM_000368.5(TSC1):c.316A>G (p.Lys106Glu)
|
|
|
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val)
|
rs1588287204
|
|
NM_000368.5(TSC1):c.3173del (p.Pro1058fs)
|
|
|
NM_000368.5(TSC1):c.3174A>G (p.Pro1058=)
|
|
|
NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu)
|
rs1379924767
|
|
NM_000368.5(TSC1):c.3176T>G (p.Phe1059Cys)
|
|
|
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=)
|
rs753263747
|
|
NM_000368.5(TSC1):c.317A>G (p.Lys106Arg)
|
rs1846812083
|
|
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg)
|
rs1203493016
|
|
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=)
|
rs2131603096
|
|
NM_000368.5(TSC1):c.3186G>A (p.Arg1062=)
|
|
|
NM_000368.5(TSC1):c.3186G>T (p.Arg1062=)
|
|
|
NM_000368.5(TSC1):c.3187T>C (p.Trp1063Arg)
|
rs1845063816
|
|
NM_000368.5(TSC1):c.318G>A (p.Lys106=)
|
|
|
NM_000368.5(TSC1):c.3190G>A (p.Glu1064Lys)
|
rs1845063569
|
|
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val)
|
|
|
NM_000368.5(TSC1):c.3192G>A (p.Glu1064=)
|
|
|
NM_000368.5(TSC1):c.3192G>T (p.Glu1064Asp)
|
|
|
NM_000368.5(TSC1):c.3195G>T (p.Thr1065=)
|
|
|
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro)
|
|
|
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile)
|
|
|
NM_000368.5(TSC1):c.3198T>G (p.Thr1066=)
|
rs1845061945
|
|
NM_000368.5(TSC1):c.3199A>C (p.Met1067Leu)
|
|
|
NM_000368.5(TSC1):c.3199A>G (p.Met1067Val)
|
rs2131602062
|
|
NM_000368.5(TSC1):c.3199_3200del (p.Met1067fs)
|
rs2131602023
|
|
NM_000368.5(TSC1):c.319C>T (p.Leu107Phe)
|
|
|
NM_000368.5(TSC1):c.31C>T (p.Leu11Phe)
|
|
|
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr)
|
rs1167362899
|
|
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys)
|
rs1845061706
|
|
NM_000368.5(TSC1):c.3206A>T (p.Glu1069Val)
|
rs1554812780
|
|
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe)
|
rs2131601255
|
|
NM_000368.5(TSC1):c.3213T>C (p.Ser1071=)
|
rs2131601196
|
|
NM_000368.5(TSC1):c.3214G>A (p.Ala1072Thr)
|
rs1845060154
|
|
NM_000368.5(TSC1):c.3214G>T (p.Ala1072Ser)
|
rs1845060154
|
|
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val)
|
rs779369226
|
|
NM_000368.5(TSC1):c.3216C>G (p.Ala1072=)
|
rs118203747
|
|
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=)
|
rs118203747
|
|
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly)
|
rs1845059319
|
|
NM_000368.5(TSC1):c.321C>T (p.Leu107=)
|
rs2132232165
|
|
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)
|
|
|
NM_000368.5(TSC1):c.3223C>A (p.Pro1075Thr)
|
|
|
NM_000368.5(TSC1):c.3223C>T (p.Pro1075Ser)
|
rs1845058768
|
|
NM_000368.5(TSC1):c.3225C>T (p.Pro1075=)
|
|
|
NM_000368.5(TSC1):c.3226A>C (p.Thr1076Pro)
|
rs1845058224
|
|
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser)
|
rs2131600316
|
|
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=)
|
rs140622357
|
|
NM_000368.5(TSC1):c.3229A>G (p.Thr1077Ala)
|
|
|
NM_000368.5(TSC1):c.322T>C (p.Ser108Pro)
|
rs1178072536
|
|
NM_000368.5(TSC1):c.3235G>A (p.Gly1079Ser)
|
|
|
NM_000368.5(TSC1):c.3239C>T (p.Ser1080Leu)
|
|
|
NM_000368.5(TSC1):c.323C>G (p.Ser108Cys)
|
rs1846811712
|
|
NM_000368.5(TSC1):c.3240A>C (p.Ser1080=)
|
|
|
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=)
|
rs1554812759
|
|
NM_000368.5(TSC1):c.3243T>A (p.Leu1081=)
|
rs2131599256
|
|
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)
|
rs1060503191
|
|
NM_000368.5(TSC1):c.3245C>T (p.Pro1082Leu)
|
rs767439431
|
|
NM_000368.5(TSC1):c.3246C>A (p.Pro1082=)
|
rs2131599043
|
|
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=)
|
rs2131599043
|
|
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro)
|
rs796053463
|
|
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=)
|
rs886063621
|
|
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)
|
rs1845053380
|
|
NM_000368.5(TSC1):c.3258C>G (p.Ser1086Arg)
|
rs1845053380
|
|
NM_000368.5(TSC1):c.325C>G (p.Gln109Glu)
|
rs397514774
|
|
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)
|
rs397514774
|
|
NM_000368.5(TSC1):c.3260T>A (p.Phe1087Tyr)
|
rs2131598234
|
|
NM_000368.5(TSC1):c.3261C>T (p.Phe1087=)
|
rs2131598168
|
|
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg)
|
rs1845053005
|
|
NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp)
|
rs762845573
|
|
NM_000368.5(TSC1):c.3269T>C (p.Met1090Thr)
|
|
|
NM_000368.5(TSC1):c.326A>G (p.Gln109Arg)
|
rs1846811126
|
|
NM_000368.5(TSC1):c.326_328del (p.Gln109_Ala110delinsPro)
|
rs1846810976
|
|
NM_000368.5(TSC1):c.3273G>A (p.Lys1091=)
|
rs2131597498
|
|
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)
|
rs747053008
|
|
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly)
|
rs1845051123
|
|
NM_000368.5(TSC1):c.3276T>G (p.Ala1092=)
|
rs2131597261
|
|
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter)
|
rs1431256375
|
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
|
NM_000368.5(TSC1):c.3278G>C (p.Arg1093Pro)
|
rs550526986
|
|
NM_000368.5(TSC1):c.3279A>C (p.Arg1093=)
|
rs772288584
|
|
NM_000368.5(TSC1):c.3279A>G (p.Arg1093=)
|
rs772288584
|
|
NM_000368.5(TSC1):c.327A>G (p.Gln109=)
|
|
|
NM_000368.5(TSC1):c.3280G>C (p.Glu1094Gln)
|
rs1845049905
|
|
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly)
|
rs1588286774
|
|
NM_000368.5(TSC1):c.3281A>T (p.Glu1094Val)
|
rs1588286774
|
|
NM_000368.5(TSC1):c.3282G>T (p.Glu1094Asp)
|
|
|
NM_000368.5(TSC1):c.3283_3284delinsAG (p.Leu1095Arg)
|
|
|
NM_000368.5(TSC1):c.3290G>T (p.Arg1097Leu)
|
rs118203750
|
|
NM_000368.5(TSC1):c.3292A>C (p.Asn1098His)
|
rs1845048359
|
|
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.3298A>T (p.Ser1100Cys)
|
rs1845047652
|
|
NM_000368.5(TSC1):c.329C>T (p.Ala110Val)
|
rs1588355332
|
|
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys)
|
rs1554812661
|
|
NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp)
|
rs118203751
|
|
NM_000368.5(TSC1):c.3304A>T (p.Ser1102Cys)
|
|
|
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)
|
rs1263464680
|
|
NM_000368.5(TSC1):c.3308A>G (p.Gln1103Arg)
|
rs1564469848
|
|
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His)
|
rs1474184918
|
|
NM_000368.5(TSC1):c.330A>C (p.Ala110=)
|
|
|
NM_000368.5(TSC1):c.330A>T (p.Ala110=)
|
rs2132231516
|
|
NM_000368.5(TSC1):c.3311G>A (p.Cys1104Tyr)
|
rs796053467
|
|
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe)
|
rs796053467
|
|
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
|
|
|
NM_000368.5(TSC1):c.3316G>A (p.Glu1106Lys)
|
rs2131594768
|
|
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=)
|
rs2131594665
|
|
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn)
|
rs1060503226
|
|
NM_000368.5(TSC1):c.3321C>G (p.Asp1107Glu)
|
rs118203752
|
|
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys)
|
rs118203753
|
|
NM_000368.5(TSC1):c.3325A>G (p.Met1109Val)
|
rs1845043842
|
|
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile)
|
rs1845043593
|
|
NM_000368.5(TSC1):c.3328A>C (p.Thr1110Pro)
|
|
|
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser)
|
rs952996030
|
|
NM_000368.5(TSC1):c.3329C>T (p.Thr1110Ile)
|
|
|
NM_000368.5(TSC1):c.3331A>G (p.Ser1111Gly)
|
|
|
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn)
|
rs1554812642
|
|
NM_000368.5(TSC1):c.3335G>A (p.Ser1112Asn)
|
|
|
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=)
|
rs761334590
|
|
NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile)
|
rs1449696743
|
|
NM_000368.5(TSC1):c.3338T>C (p.Leu1113Pro)
|
rs1845042308
|
|
NM_000368.5(TSC1):c.3341C>T (p.Ser1114Phe)
|
rs2131593288
|
|
NM_000368.5(TSC1):c.3345G>C (p.Glu1115Asp)
|
rs751467429
|
|
NM_000368.5(TSC1):c.3347G>C (p.Ser1116Thr)
|
|
|
NM_000368.5(TSC1):c.3348C>A (p.Ser1116Arg)
|
|
|
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe)
|
rs1554820276
|
|
NM_000368.5(TSC1):c.3351A>C (p.Leu1117=)
|
|
|
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg)
|
|
|
NM_000368.5(TSC1):c.3357A>G (p.Thr1119=)
|
rs2131592505
|
|
NM_000368.5(TSC1):c.3358_3359del (p.Glu1120fs)
|
|
|
NM_000368.5(TSC1):c.3359_3360del (p.Glu1120fs)
|
rs1845040133
|
|
NM_000368.5(TSC1):c.335T>A (p.Leu112His)
|
rs2132231093
|
|
NM_000368.5(TSC1):c.3361C>G (p.Leu1121Val)
|
rs769478982
|
|
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=)
|
rs769478982
|
|
NM_000368.5(TSC1):c.3363G>A (p.Leu1121=)
|
|
|
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=)
|
rs1060504857
|
|
NM_000368.5(TSC1):c.3363G>T (p.Leu1121=)
|
rs1060504857
|
|
NM_000368.5(TSC1):c.3365G>A (p.Gly1122Asp)
|
|
|
NM_000368.5(TSC1):c.3368_3369del (p.Lys1123fs)
|
rs878853967
|
|
NM_000368.5(TSC1):c.3372C>G (p.Asp1124Glu)
|
|
|
NM_000368.5(TSC1):c.3372C>T (p.Asp1124=)
|
|
|
NM_000368.5(TSC1):c.3373T>A (p.Leu1125Met)
|
|
|
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys)
|
|
|
NM_000368.5(TSC1):c.3376_3377dup (p.Glu1128fs)
|
rs1845038227
|
|
NM_000368.5(TSC1):c.3377G>T (p.Gly1126Val)
|
rs1446630759
|
|
NM_000368.5(TSC1):c.3378T>A (p.Gly1126=)
|
rs2131591124
|
|
NM_000368.5(TSC1):c.3379G>A (p.Val1127Met)
|
rs1845037495
|
|
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu)
|
rs1845037495
|
|
NM_000368.5(TSC1):c.337_338del (p.Leu113fs)
|
rs118203367
|
|
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg)
|
rs1588286359
|
|
NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del)
|
|
|
NM_000368.5(TSC1):c.3390G>T (p.Lys1130Asn)
|
|
|
NM_000368.5(TSC1):c.3394C>G (p.Pro1132Ala)
|
|
|
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu)
|
rs1564469655
|
|
NM_000368.5(TSC1):c.3396C>G (p.Pro1132=)
|
rs774980129
|
|
NM_000368.5(TSC1):c.3399G>A (p.Leu1133=)
|
rs2131589934
|
|
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=)
|
rs2131589934
|
|
NM_000368.5(TSC1):c.339G>A (p.Leu113=)
|
rs1588355270
|
|
NM_000368.5(TSC1):c.339del (p.Leu113fs)
|
|
|
NM_000368.5(TSC1):c.33T>C (p.Leu11=)
|
rs1329395556
|
|
NM_000368.5(TSC1):c.3400A>C (p.Asn1134His)
|
rs1554812610
|
|
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=)
|
rs749612772
|
|
NM_000368.5(TSC1):c.3404T>A (p.Leu1135Gln)
|
|
|
NM_000368.5(TSC1):c.3406G>A (p.Asp1136Asn)
|
|
|
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly)
|
rs1588286218
|
|
NM_000368.5(TSC1):c.340C>G (p.Pro114Ala)
|
|
|
NM_000368.5(TSC1):c.3410G>A (p.Gly1137Asp)
|
|
|
NM_000368.5(TSC1):c.3410G>T (p.Gly1137Val)
|
rs1845032228
|
|
NM_000368.5(TSC1):c.3411C>A (p.Gly1137=)
|
|
|
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.3415C>T (p.His1139Tyr)
|
rs1845031012
|
|
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln)
|
rs756737864
|
|
NM_000368.5(TSC1):c.3417C>T (p.His1139=)
|
rs756737864
|
|
NM_000368.5(TSC1):c.3418C>T (p.Pro1140Ser)
|
rs2131588755
|
|
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del)
|
rs1846809072
|
|
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys)
|
rs1344689860
|
|
NM_000368.5(TSC1):c.3423T>A (p.Ser1141=)
|
|
|
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=)
|
rs1564469544
|
|
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala)
|
rs1060503227
|
|
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=)
|
rs758286878
|
|
NM_000368.5(TSC1):c.3428C>G (p.Pro1143Arg)
|
|
|
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)
|
rs759431801
|
|
NM_000368.5(TSC1):c.3429G>C (p.Pro1143=)
|
rs759431801
|
|
NM_000368.5(TSC1):c.342T>G (p.Pro114=)
|
rs754220721
|
|
NM_000368.5(TSC1):c.3431C>T (p.Thr1144Ile)
|
rs1845027394
|
|
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=)
|
rs1588285980
|
|
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=)
|
rs1588285980
|
|
NM_000368.5(TSC1):c.3435G>C (p.Pro1145=)
|
rs140352085
|
|
NM_000368.5(TSC1):c.3436G>A (p.Asp1146Asn)
|
rs397514806
|
|
NM_000368.5(TSC1):c.3436del (p.Asp1146fs)
|
rs1588285924
|
|
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu)
|
|
|
NM_000368.5(TSC1):c.343T>A (p.Ser115Thr)
|
rs2132230552
|
|
NM_000368.5(TSC1):c.343del (p.Ser115fs)
|
rs2132230601
|
|
NM_000368.5(TSC1):c.3442G>A (p.Val1148Ile)
|
rs1554812551
|
|
NM_000368.5(TSC1):c.3444del (p.Gly1149fs)
|
rs1845025560
|
|
NM_000368.5(TSC1):c.3445G>A (p.Gly1149Arg)
|
|
|
NM_000368.5(TSC1):c.3448C>T (p.Gln1150Ter)
|
rs2131586779
|
|
NM_000368.5(TSC1):c.344del (p.Ser115fs)
|
rs2132230501
|
|
NM_000368.5(TSC1):c.3452T>A (p.Leu1151Gln)
|
rs2131586553
|
|
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=)
|
rs1554812550
|
|
NM_000368.5(TSC1):c.3454C>T (p.His1152Tyr)
|
rs1845025129
|
|
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)
|
rs1554812543
|
|
NM_000368.5(TSC1):c.3456T>C (p.His1152=)
|
rs1588285851
|
|
NM_000368.5(TSC1):c.3457A>G (p.Ile1153Val)
|
rs1845024693
|
|
NM_000368.5(TSC1):c.3458T>C (p.Ile1153Thr)
|
|
|
NM_000368.5(TSC1):c.3459C>T (p.Ile1153=)
|
rs1290663446
|
|
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val)
|
rs1845024278
|
|
NM_000368.5(TSC1):c.3464A>G (p.Asp1155Gly)
|
rs2131585776
|
|
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)
|
rs796053451
|
|
NM_000368.5(TSC1):c.346T>C (p.Leu116=)
|
rs199620268
|
|
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser)
|
rs1845023976
|
|
NM_000368.5(TSC1):c.3471T>C (p.Asn1157=)
|
|
|
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro)
|
rs1216169846
|
|
NM_000368.5(TSC1):c.3476C>T (p.Thr1159Ile)
|
rs2131585551
|
|
NM_000368.5(TSC1):c.3478CAT[1] (p.His1161del)
|
|
|
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser)
|
rs2132230247
|
|
NM_000368.5(TSC1):c.3480T>C (p.His1160=)
|
|
|
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg)
|
rs1564469371
|
|
NM_000368.5(TSC1):c.3483T>A (p.His1161Gln)
|
rs1588285797
|
|
NM_000368.5(TSC1):c.3489C>T (p.His1163=)
|
rs1554812527
|
|
NM_000368.5(TSC1):c.348A>G (p.Leu116=)
|
rs755799702
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn)
|
rs2131585043
|
|
NM_000368.5(TSC1):c.349C>T (p.Leu117=)
|
|
|
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)
|
rs118203368
|
|
NM_000368.5(TSC1):c.354del (p.Lys118fs)
|
|
|
NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr)
|
rs1554820265
|
|
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe)
|
rs1554820265
|
|
NM_000368.5(TSC1):c.358C>A (p.Leu120Ile)
|
rs1554820263
|
|
NM_000368.5(TSC1):c.358C>T (p.Leu120Phe)
|
|
|
NM_000368.5(TSC1):c.35C>T (p.Ala12Val)
|
rs1588363595
|
|
NM_000368.5(TSC1):c.360_361insGGCAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAATGTCTC (p.Lys121fs)
|
|
|
NM_000368.5(TSC1):c.360_361insSVAelement
|
|
|
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln)
|
rs1846807332
|
|
NM_000368.5(TSC1):c.362A>T (p.Lys121Met)
|
rs118203369
|
|
NM_000368.5(TSC1):c.363+11T>C
|
|
|
NM_000368.5(TSC1):c.363+17G>T
|
rs2132228627
|
|
NM_000368.5(TSC1):c.363+18del
|
|
|
NM_000368.5(TSC1):c.363+19T>C
|
|
|
NM_000368.5(TSC1):c.363+1G>A
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+2_363+5del
|
rs1846806279
|
|
NM_000368.5(TSC1):c.363+3A>G
|
rs1588355128
|
|
NM_000368.5(TSC1):c.363+3_363+18del
|
rs1554820251
|
|
NM_000368.5(TSC1):c.363+5G>C
|
rs118203374
|
|
NM_000368.5(TSC1):c.363+5_363+8del
|
rs1846805825
|
|
NM_000368.5(TSC1):c.363+668G>T
|
rs2132219029
|
|
NM_000368.5(TSC1):c.363+6A>T
|
rs2132228938
|
|
NM_000368.5(TSC1):c.363+7T>A
|
|
|
NM_000368.5(TSC1):c.363G>C (p.Lys121Asn)
|
rs118203370
|
|
NM_000368.5(TSC1):c.364-10T>C
|
rs2132194838
|
|
NM_000368.5(TSC1):c.364-12T>C
|
|
|
NM_000368.5(TSC1):c.364-13dup
|
rs1355054898
|
|
NM_000368.5(TSC1):c.364-14C>T
|
rs1020420756
|
|
NM_000368.5(TSC1):c.364-14del
|
|
|
NM_000368.5(TSC1):c.364-15C>A
|
|
|
NM_000368.5(TSC1):c.364-15C>T
|
rs1846686000
|
|
NM_000368.5(TSC1):c.364-16A>G
|
|
|
NM_000368.5(TSC1):c.364-19T>G
|
rs2132195223
|
|
NM_000368.5(TSC1):c.364-1G>A
|
|
|
NM_000368.5(TSC1):c.364-1G>C
|
rs118203376
|
|
NM_000368.5(TSC1):c.364-1G>T
|
rs118203376
|
|
NM_000368.5(TSC1):c.364-20T>G
|
|
|
NM_000368.5(TSC1):c.364-2A>G
|
rs1846685279
|
|
NM_000368.5(TSC1):c.364-4G>A
|
|
|
NM_000368.5(TSC1):c.364-5T>C
|
rs111865190
|
|
NM_000368.5(TSC1):c.364-5T>G
|
|
|
NM_000368.5(TSC1):c.364-6C>T
|
rs2132194685
|
|
NM_000368.5(TSC1):c.364-7C>A
|
rs775465260
|
|
NM_000368.5(TSC1):c.364-7C>G
|
rs775465260
|
|
NM_000368.5(TSC1):c.364-9C>T
|
|
|
NM_000368.5(TSC1):c.365T>C (p.Met122Thr)
|
rs796053454
|
|
NM_000368.5(TSC1):c.366G>A (p.Met122Ile)
|
|
|
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly)
|
|
|
NM_000368.5(TSC1):c.369C>T (p.Asp123=)
|
rs2132194269
|
|
NM_000368.5(TSC1):c.36C>A (p.Ala12=)
|
rs1588363584
|
|
NM_000368.5(TSC1):c.370A>T (p.Thr124Ser)
|
rs745871522
|
|
NM_000368.5(TSC1):c.372T>G (p.Thr124=)
|
rs1237342078
|
|
NM_000368.5(TSC1):c.375C>A (p.Asp125Glu)
|
rs560863078
|
|
NM_000368.5(TSC1):c.375CGT[1] (p.Val128del)
|
|
|
NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg)
|
rs1846682853
|
|
NM_000368.5(TSC1):c.37A>C (p.Met13Leu)
|
|
|
NM_000368.5(TSC1):c.37A>G (p.Met13Val)
|
rs768147590
|
|
NM_000368.5(TSC1):c.381_383del (p.Val128del)
|
rs118203378
|
|
NM_000368.5(TSC1):c.383T>C (p.Val128Ala)
|
rs1588350850
|
|
NM_000368.5(TSC1):c.384_401del (p.Leu129_Leu134del)
|
rs1588350733
|
|
NM_000368.5(TSC1):c.385C>A (p.Leu129Ile)
|
|
|
NM_000368.5(TSC1):c.385C>G (p.Leu129Val)
|
rs1060503198
|
|
NM_000368.5(TSC1):c.385C>T (p.Leu129Phe)
|
rs1060503198
|
|
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala)
|
rs1564499857
|
|
NM_000368.5(TSC1):c.391A>T (p.Thr131Ser)
|
rs1564499857
|
|
NM_000368.5(TSC1):c.392C>T (p.Thr131Ile)
|
|
|
NM_000368.5(TSC1):c.393A>C (p.Thr131=)
|
|
|
NM_000368.5(TSC1):c.393_405del (p.Thr131_Gly132insTer)
|
rs2132191644
|
|
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)
|
rs397514784
|
|
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)
|
rs397514784
|
|
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)
|
rs118203380
|
|
NM_000368.5(TSC1):c.396C>A (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.396C>T (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.397G>T (p.Val133Phe)
|
rs118203381
|
|
NM_000368.5(TSC1):c.397_406del (p.Gly132_Val133insTer)
|
rs2132191512
|
|
NM_000368.5(TSC1):c.398dup (p.Val135fs)
|
rs2132191990
|
|
NM_000368.5(TSC1):c.39G>A (p.Met13Ile)
|
rs2132296041
|
|
NM_000368.5(TSC1):c.400_412dup (p.Thr138fs)
|
|
|
NM_000368.5(TSC1):c.403G>A (p.Val135Met)
|
rs1588350708
|
|
NM_000368.5(TSC1):c.403G>C (p.Val135Leu)
|
rs1588350708
|
|
NM_000368.5(TSC1):c.403G>T (p.Val135Leu)
|
|
|
NM_000368.5(TSC1):c.405G>A (p.Val135=)
|
|
|
NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs)
|
rs1846678053
|
|
NM_000368.5(TSC1):c.408G>T (p.Leu136Phe)
|
|
|
NM_000368.5(TSC1):c.412A>G (p.Thr138Ala)
|
rs1846678617
|
|
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile)
|
rs1163879822
|
|
NM_000368.5(TSC1):c.419T>C (p.Leu140Pro)
|
rs1588350642
|
|
NM_000368.5(TSC1):c.420A>G (p.Leu140=)
|
rs1588350620
|
|
NM_000368.5(TSC1):c.421C>G (p.Pro141Ala)
|
rs1846677371
|
|
NM_000368.5(TSC1):c.421_422insTCTAC (p.Pro141fs)
|
|
|
NM_000368.5(TSC1):c.423A>G (p.Pro141=)
|
rs1846677189
|
|
NM_000368.5(TSC1):c.425T>C (p.Met142Thr)
|
rs886042190
|
|
NM_000368.5(TSC1):c.42G>A (p.Leu14=)
|
rs762233181
|
|
NM_000368.5(TSC1):c.42G>C (p.Leu14=)
|
|
|
NM_000368.5(TSC1):c.430C>G (p.Pro144Ala)
|
rs2132190386
|
|
NM_000368.5(TSC1):c.431C>A (p.Pro144Gln)
|
rs1846676674
|
|
NM_000368.5(TSC1):c.432A>C (p.Pro144=)
|
rs1366888701
|
|
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter)
|
rs118203382
|
|
NM_000368.5(TSC1):c.434A>C (p.Gln145Pro)
|
|
|
NM_000368.5(TSC1):c.434A>G (p.Gln145Arg)
|
rs2132190023
|
|
NM_000368.5(TSC1):c.435G>A (p.Gln145=)
|
|
|
NM_000368.5(TSC1):c.435G>T (p.Gln145His)
|
rs1195580419
|
|
NM_000368.5(TSC1):c.436T>C (p.Ser146Pro)
|
|
|
NM_000368.5(TSC1):c.439G>A (p.Gly147Arg)
|
|
|
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn)
|
rs1554821020
|
|
NM_000368.5(TSC1):c.43G>T (p.Asp15Tyr)
|
|
|
NM_000368.5(TSC1):c.43del (p.Asp15fs)
|
|
|
NM_000368.5(TSC1):c.440G>C (p.Gly147Ala)
|
rs1846675803
|
|
NM_000368.5(TSC1):c.442A>T (p.Lys148Ter)
|
rs2132189676
|
|
NM_000368.5(TSC1):c.444A>G (p.Lys148=)
|
rs2132189552
|
|
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu)
|
rs118203384
|
|
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)
|
rs118203384
|
|
NM_000368.5(TSC1):c.447G>A (p.Gln149=)
|
|
|
NM_000368.5(TSC1):c.448C>T (p.His150Tyr)
|
rs1060503206
|
|
NM_000368.5(TSC1):c.449A>G (p.His150Arg)
|
|
|
NM_000368.5(TSC1):c.44_58del (p.Asp15_Leu19del)
|
rs1847036151
|
|
NM_000368.5(TSC1):c.450T>C (p.His150=)
|
|
|
NM_000368.5(TSC1):c.452T>G (p.Leu151Arg)
|
rs2132189225
|
|
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile)
|
rs1485129708
|
|
NM_000368.5(TSC1):c.461del (p.Phe154fs)
|
rs1588350477
|
|
NM_000368.5(TSC1):c.462C>G (p.Phe154Leu)
|
|
|
NM_000368.5(TSC1):c.468C>T (p.Asp156=)
|
rs1588350435
|
|
NM_000368.5(TSC1):c.469A>G (p.Ile157Val)
|
rs1846673273
|
|
NM_000368.5(TSC1):c.470T>C (p.Ile157Thr)
|
rs2132188270
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser)
|
rs1846672854
|
|
NM_000368.5(TSC1):c.476G>A (p.Gly159Asp)
|
rs2132187882
|
|
NM_000368.5(TSC1):c.477C>T (p.Gly159=)
|
rs2132187799
|
|
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys)
|
rs1554819886
|
|
NM_000368.5(TSC1):c.479G>C (p.Arg160Pro)
|
|
|
NM_000368.5(TSC1):c.47C>A (p.Ser16Tyr)
|
|
|
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe)
|
rs774900322
|
|
NM_000368.5(TSC1):c.480T>A (p.Arg160=)
|
|
|
NM_000368.5(TSC1):c.480T>G (p.Arg160=)
|
|
|
NM_000368.5(TSC1):c.481C>T (p.Leu161=)
|
rs1846672288
|
|
NM_000368.5(TSC1):c.482T>A (p.Leu161Gln)
|
|
|
NM_000368.5(TSC1):c.482T>C (p.Leu161Pro)
|
rs1846672141
|
|
NM_000368.5(TSC1):c.483G>A (p.Leu161=)
|
|
|
NM_000368.5(TSC1):c.484T>C (p.Ser162Pro)
|
rs1060503205
|
|
NM_000368.5(TSC1):c.484_498del (p.Ser162_Leu166del)
|
|
|
NM_000368.5(TSC1):c.486del (p.Ser163fs)
|
rs2132187252
|
|
NM_000368.5(TSC1):c.488C>G (p.Ser163Ter)
|
|
|
NM_000368.5(TSC1):c.488C>T (p.Ser163Leu)
|
|
|
NM_000368.5(TSC1):c.489A>G (p.Ser163=)
|
rs118203386
|
|
NM_000368.5(TSC1):c.489A>T (p.Ser163=)
|
rs118203386
|
|
NM_000368.5(TSC1):c.490T>C (p.Trp164Arg)
|
rs1353861668
|
|
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu)
|
rs118203387
|
|
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)
|
rs1554819870
|
|
NM_000368.5(TSC1):c.492G>C (p.Trp164Cys)
|
rs1554819870
|
|
NM_000368.5(TSC1):c.495C>G (p.Cys165Trp)
|
|
|
NM_000368.5(TSC1):c.495C>T (p.Cys165=)
|
rs118203388
|
|
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
|
|
|
NM_000368.5(TSC1):c.497T>C (p.Leu166Pro)
|
|
|
NM_000368.5(TSC1):c.4G>A (p.Ala2Thr)
|
|
|
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg)
|
rs1007335343
|
|
NM_000368.5(TSC1):c.506C>A (p.Pro169Gln)
|
|
|
NM_000368.5(TSC1):c.507A>G (p.Pro169=)
|
rs1846669296
|
|
NM_000368.5(TSC1):c.507del (p.Gly170fs)
|
rs1846669447
|
|
NM_000368.5(TSC1):c.508+13T>C
|
|
|
NM_000368.5(TSC1):c.508+14C>G
|
|
|
NM_000368.5(TSC1):c.508+1G>A
|
rs118203390
|
|
NM_000368.5(TSC1):c.508+1G>C
|
rs118203390
|
|
NM_000368.5(TSC1):c.508+2T>C
|
rs2132185885
|
|
NM_000368.5(TSC1):c.508+5A>G
|
|
|
NM_000368.5(TSC1):c.508+6G>A
|
rs1846668717
|
|
NM_000368.5(TSC1):c.508+6G>C
|
rs1846668717
|
|
NM_000368.5(TSC1):c.508+7A>T
|
rs1846668543
|
|
NM_000368.5(TSC1):c.508+8T>C
|
rs2132185556
|
|
NM_000368.5(TSC1):c.508+9C>A
|
rs528772865
|
|
NM_000368.5(TSC1):c.508+9C>T
|
|
|
NM_000368.5(TSC1):c.509-10C>A
|
rs780670013
|
|
NM_000368.5(TSC1):c.509-14G>A
|
|
|
NM_000368.5(TSC1):c.509-14G>T
|
rs984165284
|
|
NM_000368.5(TSC1):c.509-15G>A
|
rs118203391
|
|
NM_000368.5(TSC1):c.509-15_509-14delinsCT
|
rs2132163342
|
|
NM_000368.5(TSC1):c.509-17A>G
|
|
|
NM_000368.5(TSC1):c.509-18A>G
|
rs953918061
|
|
NM_000368.5(TSC1):c.509-1G>A
|
rs1554819620
|
|
NM_000368.5(TSC1):c.509-1G>C
|
rs1554819620
|
|
NM_000368.5(TSC1):c.509-4C>G
|
rs2132162807
|
|
NM_000368.5(TSC1):c.509-5T>C
|
rs1846593189
|
|
NM_000368.5(TSC1):c.509-5T>G
|
rs1846593189
|
|
NM_000368.5(TSC1):c.509-9C>G
|
rs1275897593
|
|
NM_000368.5(TSC1):c.509-9del
|
rs1436371020
|
|
NM_000368.5(TSC1):c.513_514insT (p.Val172fs)
|
|
|
NM_000368.5(TSC1):c.514G>C (p.Val172Leu)
|
rs952813051
|
|
NM_000368.5(TSC1):c.515T>A (p.Val172Glu)
|
rs751092692
|
|
NM_000368.5(TSC1):c.516G>A (p.Val172=)
|
rs1419763219
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
NM_000368.5(TSC1):c.51C>T (p.Pro17=)
|
rs768175095
|
|
NM_000368.5(TSC1):c.521A>G (p.Glu174Gly)
|
rs1588347661
|
|
NM_000368.5(TSC1):c.522A>G (p.Glu174=)
|
|
|
NM_000368.5(TSC1):c.523G>T (p.Val175Phe)
|
rs1564498330
|
|
NM_000368.5(TSC1):c.525C>G (p.Val175=)
|
rs2132161260
|
|
NM_000368.5(TSC1):c.526del (p.Tyr176fs)
|
rs2132161209
|
|
NM_000368.5(TSC1):c.526dup (p.Tyr176fs)
|
rs2132161155
|
|
NM_000368.5(TSC1):c.528T>C (p.Tyr176=)
|
|
|
NM_000368.5(TSC1):c.529C>T (p.Leu177Phe)
|
rs2132160788
|
|
NM_000368.5(TSC1):c.52A>G (p.Met18Val)
|
|
|
NM_000368.5(TSC1):c.52A>T (p.Met18Leu)
|
|
|
NM_000368.5(TSC1):c.532G>T (p.Val178Phe)
|
|
|
NM_000368.5(TSC1):c.533T>G (p.Val178Gly)
|
|
|
NM_000368.5(TSC1):c.535C>T (p.His179Tyr)
|
rs1846589515
|
|
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro)
|
rs118203396
|
|
NM_000368.5(TSC1):c.540C>G (p.Leu180=)
|
rs201562103
|
|
NM_000368.5(TSC1):c.541C>A (p.His181Asn)
|
|
|
NM_000368.5(TSC1):c.541C>T (p.His181Tyr)
|
rs1057524690
|
|
NM_000368.5(TSC1):c.542A>C (p.His181Pro)
|
rs397515294
|
|
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
|
rs397515294
|
|
NM_000368.5(TSC1):c.543T>A (p.His181Gln)
|
rs762139762
|
|
NM_000368.5(TSC1):c.544G>A (p.Ala182Thr)
|
rs2132159449
|
|
NM_000368.5(TSC1):c.545C>T (p.Ala182Val)
|
|
|
NM_000368.5(TSC1):c.548G>C (p.Ser183Thr)
|
rs1554819580
|
|
NM_000368.5(TSC1):c.549T>C (p.Ser183=)
|
rs774398322
|
|
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)
|
rs940292214
|
|
NM_000368.5(TSC1):c.550G>A (p.Val184Met)
|
|
|
NM_000368.5(TSC1):c.551T>C (p.Val184Ala)
|
|
|
NM_000368.5(TSC1):c.552G>A (p.Val184=)
|
rs118203397
|
|
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter)
|
rs118203398
|
|
NM_000368.5(TSC1):c.555C>G (p.Tyr185Ter)
|
rs118203398
|
|
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)
|
rs1279777367
|
|
NM_000368.5(TSC1):c.556G>C (p.Ala186Pro)
|
|
|
NM_000368.5(TSC1):c.556G>T (p.Ala186Ser)
|
rs1279777367
|
|
NM_000368.5(TSC1):c.557C>T (p.Ala186Val)
|
|
|
NM_000368.5(TSC1):c.558A>G (p.Ala186=)
|
rs2132158268
|
|
NM_000368.5(TSC1):c.558_559dup (p.Leu187fs)
|
|
|
NM_000368.5(TSC1):c.559C>G (p.Leu187Val)
|
rs2132158182
|
|
NM_000368.5(TSC1):c.559C>T (p.Leu187Phe)
|
rs2132158182
|
|
NM_000368.5(TSC1):c.560T>A (p.Leu187His)
|
rs2132158100
|
|
NM_000368.5(TSC1):c.561C>G (p.Leu187=)
|
rs2132158033
|
|
NM_000368.5(TSC1):c.561C>T (p.Leu187=)
|
rs2132158033
|
|
NM_000368.5(TSC1):c.561_562del (p.Phe188fs)
|
|
|
NM_000368.5(TSC1):c.561_562dup (p.Phe188fs)
|
rs2132157980
|
|
NM_000368.5(TSC1):c.562T>G (p.Phe188Val)
|
|
|
NM_000368.5(TSC1):c.564T>C (p.Phe188=)
|
rs2132157821
|
|
NM_000368.5(TSC1):c.564del (p.His189fs)
|
|
|
NM_000368.5(TSC1):c.566A>T (p.His189Leu)
|
rs2132157644
|
|
NM_000368.5(TSC1):c.567T>C (p.His189=)
|
rs2132157565
|
|
NM_000368.5(TSC1):c.568C>A (p.Arg190Ser)
|
|
|
NM_000368.5(TSC1):c.569_570delinsCT (p.Arg190Pro)
|
rs2132157246
|
|
NM_000368.5(TSC1):c.571C>A (p.Leu191Ile)
|
rs1846585825
|
|
NM_000368.5(TSC1):c.571C>T (p.Leu191Phe)
|
|
|
NM_000368.5(TSC1):c.572T>A (p.Leu191His)
|
rs118203403
|
|
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg)
|
rs118203403
|
|
NM_000368.5(TSC1):c.573T>G (p.Leu191=)
|
|
|
NM_000368.5(TSC1):c.574del (p.Tyr192fs)
|
rs1846585365
|
|
NM_000368.5(TSC1):c.576T>C (p.Tyr192=)
|
rs118203406
|
|
NM_000368.5(TSC1):c.579A>T (p.Gly193=)
|
rs1846584403
|
|
NM_000368.5(TSC1):c.57G>C (p.Leu19=)
|
rs2132295317
|
|
NM_000368.5(TSC1):c.580A>C (p.Met194Leu)
|
rs1588347278
|
|
NM_000368.5(TSC1):c.581T>C (p.Met194Thr)
|
rs746188529
|
|
NM_000368.5(TSC1):c.581T>G (p.Met194Arg)
|
rs746188529
|
|
NM_000368.5(TSC1):c.582_583dup (p.Tyr195fs)
|
rs2132156045
|
|
NM_000368.5(TSC1):c.585C>G (p.Tyr195Ter)
|
rs118203407
|
|
NM_000368.5(TSC1):c.585C>T (p.Tyr195=)
|
rs118203407
|
|
NM_000368.5(TSC1):c.587C>T (p.Pro196Leu)
|
|
|
NM_000368.5(TSC1):c.587del (p.Pro196fs)
|
rs796053464
|
|
NM_000368.5(TSC1):c.58G>A (p.Gly20Ser)
|
rs2132295199
|
|
NM_000368.5(TSC1):c.58G>C (p.Gly20Arg)
|
rs2132295199
|
|
NM_000368.5(TSC1):c.597C>G (p.Phe199Leu)
|
rs202242304
|
|
NM_000368.5(TSC1):c.598G>T (p.Val200Phe)
|
rs118203410
|
|
NM_000368.5(TSC1):c.599dup (p.Ser201fs)
|
rs118203411
|
|
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp)
|
rs2132295150
|
|
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala)
|
|
|
NM_000368.5(TSC1):c.59del (p.Gly20fs)
|
|
|
NM_000368.5(TSC1):c.5C>T (p.Ala2Val)
|
rs1588363746
|
|
NM_000368.5(TSC1):c.602C>T (p.Ser201Phe)
|
rs1564498038
|
|
NM_000368.5(TSC1):c.603C>A (p.Ser201=)
|
rs777571943
|
|
NM_000368.5(TSC1):c.607T>G (p.Leu203Val)
|
|
|
NM_000368.5(TSC1):c.608del (p.Leu203fs)
|
|
|
NM_000368.5(TSC1):c.60T>G (p.Gly20=)
|
rs1293816362
|
|
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys)
|
rs1060505021
|
|
NM_000368.5(TSC1):c.611G>A (p.Arg204His)
|
rs397514834
|
|
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro)
|
rs397514834
|
|
NM_000368.5(TSC1):c.611G>T (p.Arg204Leu)
|
|
|
NM_000368.5(TSC1):c.617A>G (p.His206Arg)
|
rs1846579352
|
|
NM_000368.5(TSC1):c.621C>T (p.Tyr207=)
|
|
|
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr)
|
rs1264782606
|
|
NM_000368.5(TSC1):c.625A>C (p.Met209Leu)
|
|
|
NM_000368.5(TSC1):c.625A>T (p.Met209Leu)
|
rs754980229
|
|
NM_000368.5(TSC1):c.633A>G (p.Glu211=)
|
rs753550247
|
|
NM_000368.5(TSC1):c.634_635del (p.Asn212fs)
|
rs1846577619
|
|
NM_000368.5(TSC1):c.636C>T (p.Asn212=)
|
|
|
NM_000368.5(TSC1):c.637C>G (p.Leu213Val)
|
rs999904570
|
|
NM_000368.5(TSC1):c.637C>T (p.Leu213=)
|
rs999904570
|
|
NM_000368.5(TSC1):c.638T>C (p.Leu213Pro)
|
|
|
NM_000368.5(TSC1):c.639G>A (p.Leu213=)
|
rs2132151091
|
|
NM_000368.5(TSC1):c.640G>A (p.Glu214Lys)
|
rs1846577095
|
|
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
|
|
|
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp)
|
rs904190788
|
|
NM_000368.5(TSC1):c.643A>G (p.Thr215Ala)
|
rs2132150727
|
|
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)
|
rs118203416
|
|
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
|
rs118203417
|
|
NM_000368.5(TSC1):c.648_649insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACCTGGAGACTTTT (p.Glu217delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000368.5(TSC1):c.648del (p.Phe216fs)
|
rs118203417
|
|
NM_000368.5(TSC1):c.649G>C (p.Glu217Gln)
|
rs2132150199
|
|
NM_000368.5(TSC1):c.64C>A (p.Arg22=)
|
|
|
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)
|
rs1554819509
|
|
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp)
|
|
|
NM_000368.5(TSC1):c.657G>A (p.Val219=)
|
rs755910789
|
|
NM_000368.5(TSC1):c.657G>T (p.Val219=)
|
rs755910789
|
|
NM_000368.5(TSC1):c.658G>A (p.Val220Ile)
|
|
|
NM_000368.5(TSC1):c.659T>G (p.Val220Gly)
|
|
|
NM_000368.5(TSC1):c.65G>C (p.Arg22Pro)
|
rs141736779
|
|
NM_000368.5(TSC1):c.660C>G (p.Val220=)
|
rs1588346808
|
|
NM_000368.5(TSC1):c.660C>T (p.Val220=)
|
rs1588346808
|
|
NM_000368.5(TSC1):c.660_663+2del
|
|
|
NM_000368.5(TSC1):c.661A>G (p.Lys221Glu)
|
|
|
NM_000368.5(TSC1):c.663+11A>G
|
rs2132148438
|
|
NM_000368.5(TSC1):c.663+13T>C
|
|
|
NM_000368.5(TSC1):c.663+13T>G
|
rs1846572826
|
|
NM_000368.5(TSC1):c.663+14G>C
|
rs2132148240
|
|
NM_000368.5(TSC1):c.663+16T>C
|
rs2132148143
|
|
NM_000368.5(TSC1):c.663+18G>A
|
rs1304956665
|
|
NM_000368.5(TSC1):c.663+1G>A
|
rs118203419
|
|
NM_000368.5(TSC1):c.663+20T>C
|
rs2132147919
|
|
NM_000368.5(TSC1):c.663+2T>C
|
|
|
NM_000368.5(TSC1):c.663+7T>C
|
rs118203420
|
|
NM_000368.5(TSC1):c.663+7T>G
|
rs118203420
|
|
NM_000368.5(TSC1):c.663+9A>G
|
rs1240986386
|
|
NM_000368.5(TSC1):c.663G>A (p.Lys221=)
|
rs868715706
|
|
NM_000368.5(TSC1):c.664-10A>G
|
rs1588345946
|
|
NM_000368.5(TSC1):c.664-11A>G
|
|
|
NM_000368.5(TSC1):c.664-11A>T
|
|
|
NM_000368.5(TSC1):c.664-12C>T
|
|
|
NM_000368.5(TSC1):c.664-14C>G
|
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.664-16A>T
|
|
|
NM_000368.5(TSC1):c.664-17C>T
|
|
|
NM_000368.5(TSC1):c.664-18T>C
|
rs2132139374
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
NM_000368.5(TSC1):c.664-1G>C
|
rs118203423
|
|
NM_000368.5(TSC1):c.664-2A>G
|
rs1846550204
|
|
NM_000368.5(TSC1):c.664-4C>G
|
rs2132138750
|
|
NM_000368.5(TSC1):c.664-6T>C
|
rs1588345922
|
|
NM_000368.5(TSC1):c.664-7C>T
|
rs2132138899
|
|
NM_000368.5(TSC1):c.664-9C>T
|
rs757752536
|
|
NM_000368.5(TSC1):c.664C>G (p.Pro222Ala)
|
|
|
NM_000368.5(TSC1):c.667A>G (p.Met223Val)
|
rs2132138226
|
|
NM_000368.5(TSC1):c.66G>A (p.Arg22=)
|
rs2132294888
|
|
NM_000368.5(TSC1):c.671T>A (p.Met224Lys)
|
rs118203426
|
|
NM_000368.5(TSC1):c.671T>C (p.Met224Thr)
|
rs118203426
|
|
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
|
rs118203426
|
|
NM_000368.5(TSC1):c.673G>T (p.Glu225Ter)
|
|
|
NM_000368.5(TSC1):c.675G>A (p.Glu225=)
|
rs1846548662
|
|
NM_000368.5(TSC1):c.676C>G (p.His226Asp)
|
rs2132137589
|
|
NM_000368.5(TSC1):c.676C>T (p.His226Tyr)
|
rs2132137589
|
|
NM_000368.5(TSC1):c.678T>A (p.His226Gln)
|
rs2132137496
|
|
NM_000368.5(TSC1):c.678T>G (p.His226Gln)
|
|
|
NM_000368.5(TSC1):c.679G>A (p.Val227Met)
|
|
|
NM_000368.5(TSC1):c.679G>C (p.Val227Leu)
|
rs1846548148
|
|
NM_000368.5(TSC1):c.680T>A (p.Val227Glu)
|
rs1264542706
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)
|
rs1223799508
|
|
NM_000368.5(TSC1):c.689A>G (p.His230Arg)
|
rs1588345775
|
|
NM_000368.5(TSC1):c.68A>G (p.Asp23Gly)
|
rs1847034874
|
|
NM_000368.5(TSC1):c.690T>C (p.His230=)
|
rs2132136607
|
|
NM_000368.5(TSC1):c.692C>G (p.Pro231Arg)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.693G>A (p.Pro231=)
|
rs749311040
|
|
NM_000368.5(TSC1):c.694G>A (p.Glu232Lys)
|
rs118203429
|
|
NM_000368.5(TSC1):c.694G>C (p.Glu232Gln)
|
|
|
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter)
|
rs118203429
|
|
NM_000368.5(TSC1):c.696A>G (p.Glu232=)
|
rs1588345709
|
|
NM_000368.5(TSC1):c.698T>G (p.Leu233Ter)
|
rs1846545578
|
|
NM_000368.5(TSC1):c.704C>T (p.Thr235Ile)
|
|
|
NM_000368.5(TSC1):c.708A>G (p.Gly236=)
|
rs2132135313
|
|
NM_000368.5(TSC1):c.710C>A (p.Ser237Tyr)
|
|
|
NM_000368.5(TSC1):c.710C>T (p.Ser237Phe)
|
|
|
NM_000368.5(TSC1):c.711C>T (p.Ser237=)
|
rs1588345678
|
|
NM_000368.5(TSC1):c.712A>G (p.Lys238Glu)
|
|
|
NM_000368.5(TSC1):c.713A>G (p.Lys238Arg)
|
rs2132134825
|
|
NM_000368.5(TSC1):c.714G>A (p.Lys238=)
|
rs2132134730
|
|
NM_000368.5(TSC1):c.716A>G (p.Asp239Gly)
|
|
|
NM_000368.5(TSC1):c.720T>C (p.His240=)
|
|
|
NM_000368.5(TSC1):c.721G>T (p.Glu241Ter)
|
rs2132134052
|
|
NM_000368.5(TSC1):c.722A>G (p.Glu241Gly)
|
|
|
NM_000368.5(TSC1):c.723A>G (p.Glu241=)
|
|
|
NM_000368.5(TSC1):c.724C>T (p.Leu242=)
|
rs118203432
|
|
NM_000368.5(TSC1):c.725T>C (p.Leu242Pro)
|
rs1554819388
|
|
NM_000368.5(TSC1):c.726G>C (p.Leu242=)
|
rs2132133780
|
|
NM_000368.5(TSC1):c.731C>T (p.Pro244Leu)
|
rs2132133357
|
|
NM_000368.5(TSC1):c.731del (p.Pro244fs)
|
rs1846543630
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.734G>C (p.Arg245Pro)
|
rs755859330
|
|
NM_000368.5(TSC1):c.734dup (p.Arg246fs)
|
rs1588345595
|
|
NM_000368.5(TSC1):c.737+10C>G
|
rs1554819375
|
|
NM_000368.5(TSC1):c.737+10C>T
|
rs1554819375
|
|
NM_000368.5(TSC1):c.737+12A>G
|
|
|
NM_000368.5(TSC1):c.737+13G>A
|
rs1057522693
|
|
NM_000368.5(TSC1):c.737+17del
|
|
|
NM_000368.5(TSC1):c.737+19A>G
|
rs1162425973
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+20A>C
|
rs764271835
|
|
NM_000368.5(TSC1):c.737+2T>C
|
rs1564497308
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737+4T>C
|
rs1487527846
|
|
NM_000368.5(TSC1):c.737+8A>T
|
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.738-11G>A
|
rs2132007936
|
|
NM_000368.5(TSC1):c.738-12T>G
|
rs2132008003
|
|
NM_000368.5(TSC1):c.738-16T>C
|
rs2132008163
|
|
NM_000368.5(TSC1):c.738-18T>G
|
rs2132008244
|
|
NM_000368.5(TSC1):c.738-19C>T
|
|
|
NM_000368.5(TSC1):c.738-1G>A
|
rs1564490210
|
|
NM_000368.5(TSC1):c.738-1G>C
|
rs1564490210
|
|
NM_000368.5(TSC1):c.738-2A>G
|
rs118203440
|
|
NM_000368.5(TSC1):c.738-2A>T
|
rs118203440
|
|
NM_000368.5(TSC1):c.738-2_740del
|
rs1554817707
|
|
NM_000368.5(TSC1):c.738-9A>G
|
rs1846021685
|
|
NM_000368.5(TSC1):c.740G>A (p.Trp247Ter)
|
rs1846020610
|
|
NM_000368.5(TSC1):c.745A>C (p.Arg249=)
|
|
|
NM_000368.5(TSC1):c.746G>A (p.Arg249Lys)
|
|
|
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser)
|
rs118203447
|
|
NM_000368.5(TSC1):c.74T>G (p.Val25Gly)
|
|
|
NM_000368.5(TSC1):c.74dup (p.Thr26fs)
|
rs886041959
|
|
NM_000368.5(TSC1):c.750A>G (p.Leu250=)
|
rs2132006420
|
|
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter)
|
rs1554817691
|
|
NM_000368.5(TSC1):c.752A>G (p.Glu251Gly)
|
|
|
NM_000368.5(TSC1):c.755C>T (p.Thr252Ile)
|
rs1232152905
|
|
NM_000368.5(TSC1):c.756T>G (p.Thr252=)
|
rs2132006065
|
|
NM_000368.5(TSC1):c.759T>A (p.His253Gln)
|
rs748775797
|
|
NM_000368.5(TSC1):c.760G>A (p.Asp254Asn)
|
|
|
NM_000368.5(TSC1):c.761A>G (p.Asp254Gly)
|
rs1846018773
|
|
NM_000368.5(TSC1):c.762T>A (p.Asp254Glu)
|
rs780005416
|
|
NM_000368.5(TSC1):c.765T>G (p.Val255=)
|
rs1588327624
|
|
NM_000368.5(TSC1):c.769_776del (p.Ile257fs)
|
rs1554817676
|
|
NM_000368.5(TSC1):c.770T>A (p.Ile257Asn)
|
rs745640752
|
|
NM_000368.5(TSC1):c.771C>A (p.Ile257=)
|
rs1060504854
|
|
NM_000368.5(TSC1):c.771C>G (p.Ile257Met)
|
rs1060504854
|
|
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)
|
rs118203450
|
|
NM_000368.5(TSC1):c.773_774insTA (p.Glu258fs)
|
rs2132004661
|
|
NM_000368.5(TSC1):c.775T>C (p.Cys259Arg)
|
rs1191767597
|
|
NM_000368.5(TSC1):c.776G>A (p.Cys259Tyr)
|
rs1459280532
|
|
NM_000368.5(TSC1):c.779C>T (p.Ala260Val)
|
rs758617649
|
|
NM_000368.5(TSC1):c.780C>T (p.Ala260=)
|
rs2132003938
|
|
NM_000368.5(TSC1):c.786C>A (p.Ile262=)
|
|
|
NM_000368.5(TSC1):c.786C>T (p.Ile262=)
|
rs779015004
|
|
NM_000368.5(TSC1):c.789T>C (p.Ser263=)
|
rs2132003258
|
|
NM_000368.5(TSC1):c.790C>G (p.Leu264Val)
|
|
|
NM_000368.5(TSC1):c.792G>A (p.Leu264=)
|
rs1257538409
|
|
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu)
|
rs1554817662
|
|
NM_000368.5(TSC1):c.798del (p.Thr267fs)
|
|
|
NM_000368.5(TSC1):c.79G>C (p.Ala27Pro)
|
rs1847033606
|
|
NM_000368.5(TSC1):c.7C>T (p.Gln3Ter)
|
|
|
NM_000368.5(TSC1):c.805G>A (p.Ala269Thr)
|
|
|
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp)
|
rs1347033062
|
|
NM_000368.5(TSC1):c.807C>T (p.Ala269=)
|
|
|
NM_000368.5(TSC1):c.808T>G (p.Ser270Ala)
|
|
|
NM_000368.5(TSC1):c.809C>G (p.Ser270Ter)
|
|
|
NM_000368.5(TSC1):c.811T>C (p.Tyr271His)
|
|
|
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer)
|
rs118203451
|
|
NM_000368.5(TSC1):c.813T>C (p.Tyr271=)
|
rs118203452
|
|
NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter)
|
rs118203452
|
|
NM_000368.5(TSC1):c.814G>A (p.Glu272Lys)
|
rs397514872
|
|
NM_000368.5(TSC1):c.816A>G (p.Glu272=)
|
rs2132001195
|
|
NM_000368.5(TSC1):c.817_824del (p.Asp273fs)
|
|
|
NM_000368.5(TSC1):c.818A>T (p.Asp273Val)
|
|
|
NM_000368.5(TSC1):c.819T>C (p.Asp273=)
|
rs148756522
|
|
NM_000368.5(TSC1):c.81T>C (p.Ala27=)
|
rs1588363327
|
|
NM_000368.5(TSC1):c.820G>A (p.Gly274Ser)
|
rs1389310342
|
|
NM_000368.5(TSC1):c.821G>C (p.Gly274Ala)
|
|
|
NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys)
|
rs1554817636
|
|
NM_000368.5(TSC1):c.825T>C (p.Tyr275=)
|
|
|
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)
|
rs118203454
|
|
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe)
|
rs1846012269
|
|
NM_000368.5(TSC1):c.828T>A (p.Ser276=)
|
rs1588327195
|
|
NM_000368.5(TSC1):c.828T>C (p.Ser276=)
|
|
|
NM_000368.5(TSC1):c.82G>C (p.Val28Leu)
|
rs1588363318
|
|
NM_000368.5(TSC1):c.831del (p.Ser278fs)
|
rs1846011821
|
|
NM_000368.5(TSC1):c.837C>A (p.His279Gln)
|
|
|
NM_000368.5(TSC1):c.838C>G (p.Gln280Glu)
|
rs118203458
|
|
NM_000368.5(TSC1):c.839A>G (p.Gln280Arg)
|
|
|
NM_000368.5(TSC1):c.840A>C (p.Gln280His)
|
rs1171852730
|
|
NM_000368.5(TSC1):c.841A>C (p.Ile281Leu)
|
rs2131999104
|
|
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala)
|
|
|
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu)
|
rs118203459
|
|
NM_000368.5(TSC1):c.846A>G (p.Ser282=)
|
rs768226293
|
|
NM_000368.5(TSC1):c.846del (p.Ala283fs)
|
rs1846010451
|
|
NM_000368.5(TSC1):c.848C>T (p.Ala283Val)
|
rs1554817613
|
|
NM_000368.5(TSC1):c.850C>A (p.Arg284Ser)
|
rs140544652
|
|
NM_000368.5(TSC1):c.850dup (p.Arg284fs)
|
rs1554817612
|
|
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu)
|
rs151309813
|
|
NM_000368.5(TSC1):c.852C>T (p.Arg284=)
|
rs769706203
|
|
NM_000368.5(TSC1):c.856C>G (p.Pro286Ala)
|
rs1047485135
|
|
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser)
|
rs1047485135
|
|
NM_000368.5(TSC1):c.857del (p.Pro286fs)
|
|
|
NM_000368.5(TSC1):c.862C>G (p.Arg288Gly)
|
rs770653972
|
|
NM_000368.5(TSC1):c.863G>C (p.Arg288Pro)
|
|
|
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)
|
rs397514867
|
|
NM_000368.5(TSC1):c.867A>G (p.Ser289=)
|
rs1588326877
|
|
NM_000368.5(TSC1):c.869C>T (p.Ala290Val)
|
rs1846007897
|
|
NM_000368.5(TSC1):c.86_90dup (p.Glu31fs)
|
rs1564504869
|
|
NM_000368.5(TSC1):c.870C>G (p.Ala290=)
|
rs779155575
|
|
NM_000368.5(TSC1):c.870C>T (p.Ala290=)
|
rs779155575
|
|
NM_000368.5(TSC1):c.871_886dup (p.Pro296fs)
|
rs1588326629
|
|
NM_000368.5(TSC1):c.874G>A (p.Val292Ile)
|
rs1588326825
|
|
NM_000368.5(TSC1):c.876C>G (p.Val292=)
|
rs116756594
|
|
NM_000368.5(TSC1):c.877A>G (p.Thr293Ala)
|
rs2131996111
|
|
NM_000368.5(TSC1):c.878C>G (p.Thr293Ser)
|
rs756681916
|
|
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile)
|
rs756681916
|
|
NM_000368.5(TSC1):c.879C>T (p.Thr293=)
|
rs1554817584
|
|
NM_000368.5(TSC1):c.880A>T (p.Thr294Ser)
|
rs1588326742
|
|
NM_000368.5(TSC1):c.881C>A (p.Thr294Asn)
|
rs878853969
|
|
NM_000368.5(TSC1):c.881C>T (p.Thr294Ile)
|
rs878853969
|
|
NM_000368.5(TSC1):c.882C>T (p.Thr294=)
|
rs1588326689
|
|
NM_000368.5(TSC1):c.883A>G (p.Ser295Gly)
|
rs1588326679
|
|
NM_000368.5(TSC1):c.883A>T (p.Ser295Cys)
|
rs1588326679
|
|
NM_000368.5(TSC1):c.884G>T (p.Ser295Ile)
|
|
|
NM_000368.5(TSC1):c.885C>G (p.Ser295Arg)
|
rs973115696
|
|
NM_000368.5(TSC1):c.885C>T (p.Ser295=)
|
|
|
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser)
|
rs750890263
|
|
NM_000368.5(TSC1):c.887C>T (p.Pro296Leu)
|
rs1846005037
|
|
NM_000368.5(TSC1):c.888T>C (p.Pro296=)
|
|
|
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
|
|
|
NM_000368.5(TSC1):c.891T>C (p.Tyr297=)
|
rs118203461
|
|
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)
|
rs118203461
|
|
NM_000368.5(TSC1):c.891del (p.Pro296_Tyr297insTer)
|
rs1846004910
|
|
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr)
|
rs1846004547
|
|
NM_000368.5(TSC1):c.895G>A (p.Asp299Asn)
|
|
|
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
|
NM_000368.5(TSC1):c.899C>A (p.Thr300Lys)
|
|
|
NM_000368.5(TSC1):c.900A>G (p.Thr300=)
|
rs2131994220
|
|
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter)
|
rs118203463
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg)
|
rs1389512342
|
|
NM_000368.5(TSC1):c.903G>A (p.Gln301=)
|
rs762200890
|
|
NM_000368.5(TSC1):c.90A>G (p.Lys30=)
|
rs1847032608
|
|
NM_000368.5(TSC1):c.910T>A (p.Tyr304Asn)
|
rs1588326467
|
|
NM_000368.5(TSC1):c.911A>G (p.Tyr304Cys)
|
|
|
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)
|
rs118203466
|
|
NM_000368.5(TSC1):c.913+10G>A
|
rs2131992961
|
|
NM_000368.5(TSC1):c.913+11T>G
|
rs1846001522
|
|
NM_000368.5(TSC1):c.913+15T>C
|
|
|
NM_000368.5(TSC1):c.913+17G>C
|
rs762571446
|
|
NM_000368.5(TSC1):c.913+17G>T
|
rs762571446
|
|
NM_000368.5(TSC1):c.913+18T>C
|
|
|
NM_000368.5(TSC1):c.913+19A>G
|
rs2131992657
|
|
NM_000368.5(TSC1):c.913+1G>A
|
rs118203470
|
|
NM_000368.5(TSC1):c.913+1G>T
|
rs118203470
|
|
NM_000368.5(TSC1):c.913+20C>G
|
|
|
NM_000368.5(TSC1):c.913+20C>T
|
|
|
NM_000368.5(TSC1):c.913+2T>A
|
|
|
NM_000368.5(TSC1):c.913+2T>G
|
|
|
NM_000368.5(TSC1):c.913+3A>G
|
rs1846002381
|
|
NM_000368.5(TSC1):c.913+4A>C
|
rs1178304676
|
|
NM_000368.5(TSC1):c.913+7A>C
|
rs2131993085
|
|
NM_000368.5(TSC1):c.913+8G>A
|
|
|
NM_000368.5(TSC1):c.913+8G>C
|
rs763784439
|
|
NM_000368.5(TSC1):c.913+9T>A
|
rs1588326345
|
|
NM_000368.5(TSC1):c.913+9T>C
|
rs1588326345
|
|
NM_000368.5(TSC1):c.914-10T>C
|
rs1554817441
|
|
NM_000368.5(TSC1):c.914-11T>C
|
rs745979259
|
|
NM_000368.5(TSC1):c.914-14C>G
|
rs2131983247
|
|
NM_000368.5(TSC1):c.914-15_914-13del
|
|
|
NM_000368.5(TSC1):c.914-16T>C
|
|
|
NM_000368.5(TSC1):c.914-20G>C
|
rs1588325085
|
|
NM_000368.5(TSC1):c.914-3T>C
|
rs781756453
|
|
NM_000368.5(TSC1):c.914-4T>G
|
rs2131982922
|
|
NM_000368.5(TSC1):c.914-7A>G
|
rs1588325018
|
|
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.915G>T (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.916T>C (p.Cys306Arg)
|
rs34876281
|
|
NM_000368.5(TSC1):c.917G>T (p.Cys306Phe)
|
|
|
NM_000368.5(TSC1):c.918T>C (p.Cys306=)
|
rs34610255
|
|
NM_000368.5(TSC1):c.91G>C (p.Glu31Gln)
|
rs1847032440
|
|
NM_000368.5(TSC1):c.920C>T (p.Ala307Val)
|
rs572611259
|
|
NM_000368.5(TSC1):c.921T>G (p.Ala307=)
|
|
|
NM_000368.5(TSC1):c.922A>G (p.Thr308Ala)
|
rs1845965349
|
|
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn)
|
rs1554817432
|
|
NM_000368.5(TSC1):c.924T>C (p.Thr308=)
|
|
|
NM_000368.5(TSC1):c.929C>T (p.Thr310Ile)
|
rs1588324860
|
|
NM_000368.5(TSC1):c.92del (p.Glu31fs)
|
|
|
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr)
|
rs1332186256
|
|
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala)
|
rs1332186256
|
|
NM_000368.5(TSC1):c.931C>T (p.Pro311Ser)
|
|
|
NM_000368.5(TSC1):c.932C>A (p.Pro311His)
|
rs776158460
|
|
NM_000368.5(TSC1):c.932C>T (p.Pro311Leu)
|
rs776158460
|
|
NM_000368.5(TSC1):c.932del (p.Pro311fs)
|
|
|
NM_000368.5(TSC1):c.934T>C (p.Tyr312His)
|
rs1845964220
|
|
NM_000368.5(TSC1):c.935A>C (p.Tyr312Ser)
|
rs1588324803
|
|
NM_000368.5(TSC1):c.935A>G (p.Tyr312Cys)
|
rs1588324803
|
|
NM_000368.5(TSC1):c.936C>T (p.Tyr312=)
|
|
|
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)
|
rs766317920
|
|
NM_000368.5(TSC1):c.93G>A (p.Glu31=)
|
|
|
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp)
|
rs781059342
|
|
NM_000368.5(TSC1):c.940A>G (p.Thr314Ala)
|
rs1845963270
|
|
NM_000368.5(TSC1):c.941C>G (p.Thr314Arg)
|
|
|
NM_000368.5(TSC1):c.942G>T (p.Thr314=)
|
rs144208203
|
|
NM_000368.5(TSC1):c.945dup (p.Arg316fs)
|
rs2131980428
|
|
NM_000368.5(TSC1):c.947G>T (p.Arg316Leu)
|
rs375956049
|
|
NM_000368.5(TSC1):c.949C>A (p.Leu317Met)
|
rs1588324686
|
|
NM_000368.5(TSC1):c.949C>T (p.Leu317=)
|
rs1588324686
|
|
NM_000368.5(TSC1):c.951G>A (p.Leu317=)
|
rs1554817419
|
|
NM_000368.5(TSC1):c.952A>T (p.Met318Leu)
|
rs1392501159
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
NM_000368.5(TSC1):c.955T>G (p.Leu319Val)
|
rs1845961614
|
|
NM_000368.5(TSC1):c.957G>A (p.Leu319=)
|
rs1845961446
|
|
NM_000368.5(TSC1):c.957G>C (p.Leu319Phe)
|
|
|
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser)
|
rs1222555421
|
|
NM_000368.5(TSC1):c.962A>C (p.Asn321Thr)
|
|
|
NM_000368.5(TSC1):c.963T>A (p.Asn321Lys)
|
|
|
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr)
|
rs1588324568
|
|
NM_000368.5(TSC1):c.965_966inv (p.Met322Thr)
|
|
|
NM_000368.5(TSC1):c.965_978del (p.Met322fs)
|
rs1588324435
|
|
NM_000368.5(TSC1):c.967C>A (p.Pro323Thr)
|
rs781189978
|
|
NM_000368.5(TSC1):c.967C>G (p.Pro323Ala)
|
|
|
NM_000368.5(TSC1):c.969A>G (p.Pro323=)
|
rs1418510093
|
|
NM_000368.5(TSC1):c.96C>T (p.Asn32=)
|
rs1588363242
|
|
NM_000368.5(TSC1):c.972G>A (p.Gly324=)
|
rs118203473
|
|
NM_000368.5(TSC1):c.973C>G (p.Gln325Glu)
|
rs118203474
|
|
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
|
rs118203474
|
|
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg)
|
rs1564488890
|
|
NM_000368.5(TSC1):c.975G>A (p.Gln325=)
|
rs1554817398
|
|
NM_000368.5(TSC1):c.975G>T (p.Gln325His)
|
rs1554817398
|
|
NM_000368.5(TSC1):c.976C>T (p.Leu326=)
|
rs1554817396
|
|
NM_000368.5(TSC1):c.978A>G (p.Leu326=)
|
rs1060504862
|
|
NM_000368.5(TSC1):c.978_988del (p.Pro327fs)
|
|
|
NM_000368.5(TSC1):c.979C>T (p.Pro327Ser)
|
|
|
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)
|
rs1847031671
|
|
NM_000368.5(TSC1):c.980C>T (p.Pro327Leu)
|
|
|
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)
|
rs1554817388
|
|
NM_000368.5(TSC1):c.984G>A (p.Gln328=)
|
rs2131977316
|
|
NM_000368.5(TSC1):c.986C>T (p.Thr329Ile)
|
|
|
NM_000368.5(TSC1):c.988C>A (p.Leu330Met)
|
rs1060503222
|
|
NM_000368.5(TSC1):c.988C>T (p.Leu330=)
|
rs1060503222
|
|
NM_000368.5(TSC1):c.988_989insGA (p.Leu330fs)
|
rs1564488810
|
|
NM_000368.5(TSC1):c.989T>G (p.Leu330Arg)
|
rs1588324325
|
|
NM_000368.5(TSC1):c.989_990del (p.Leu330fs)
|
rs118203479
|
|
NM_000368.5(TSC1):c.989del (p.Leu330fs)
|
rs397514870
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000368.5(TSC1):c.992G>A (p.Ser331Asn)
|
rs2131976184
|
|
NM_000368.5(TSC1):c.993T>A (p.Ser331Arg)
|
rs1588324306
|
|
NM_000368.5(TSC1):c.993T>C (p.Ser331=)
|
rs1588324306
|
|
NM_000368.5(TSC1):c.995C>T (p.Ser332Phe)
|
rs2131975937
|
|
NM_000368.5(TSC1):c.996C>T (p.Ser332=)
|
rs1588324281
|
|
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser)
|
rs1057520994
|
|
NM_000368.5(TSC1):c.997_998del (p.Pro333fs)
|
rs1564488773
|
|
NM_000368.5(TSC1):c.998del (p.Pro333fs)
|
rs1564488773
|
|
NM_000368.5(TSC1):c.999A>G (p.Pro333=)
|
rs1192409248
|
|
NM_000368.5(TSC1):c.99C>T (p.Leu33=)
|
rs757216373
|
|
NM_000368.5(TSC1):c.9A>G (p.Gln3=)
|
rs1588363733
|
|
NM_001162426.2(TSC1):c.2623-4_2623-3insTG
|
rs2131640739
|
|