NM_000368.5(TSC1):c.2392-35T>C
|
rs11243931
|
0.20073
|
NM_000368.5(TSC1):c.1439-37C>T
|
rs10901220
|
0.16021
|
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.1334-55C>G
|
rs7872606
|
0.09429
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_000368.5(TSC1):c.2502+51A>G
|
rs75802666
|
0.04894
|
NM_000368.5(TSC1):c.*913C>T
|
rs117425923
|
0.03547
|
NM_000368.5(TSC1):c.*1487C>T
|
rs79277527
|
0.02671
|
NM_000368.5(TSC1):c.2976-43G>C
|
rs7853849
|
0.02474
|
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.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_000368.5(TSC1):c.2976-54G>A
|
rs118203740
|
0.00757
|
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.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000368.5(TSC1):c.1263+88A>G
|
rs118203507
|
0.00250
|
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.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
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.*358C>T
|
rs147729052
|
0.00066
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
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.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
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.1998-53G>A
|
rs368679682
|
0.00025
|
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)
|
rs118203723
|
0.00025
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.663+29A>G
|
rs376472527
|
0.00016
|
NM_000368.5(TSC1):c.1333+13C>T
|
rs118203516
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
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.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.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.1567G>C (p.Ala523Pro)
|
rs118203548
|
0.00008
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000368.5(TSC1):c.231C>T (p.Asn77=)
|
rs397514809
|
0.00005
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00005
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_000368.5(TSC1):c.853T>G (p.Phe285Val)
|
rs377076733
|
0.00005
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)
|
rs149719514
|
0.00004
|
NM_000368.5(TSC1):c.2814-27A>G
|
rs118203738
|
0.00004
|
NM_000368.5(TSC1):c.738-20A>G
|
rs397514824
|
0.00004
|
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)
|
rs397514808
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)
|
rs397514863
|
0.00003
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
NM_000368.5(TSC1):c.126A>C (p.Val42=)
|
rs118203335
|
0.00002
|
NM_000368.5(TSC1):c.1439-25C>A
|
rs397514813
|
0.00002
|
NM_000368.5(TSC1):c.1584C>T (p.Gly528=)
|
rs149439187
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
NM_000368.5(TSC1):c.2208+23G>A
|
rs118203658
|
0.00001
|
NM_000368.5(TSC1):c.2226A>G (p.Leu742=)
|
rs397514878
|
0.00001
|
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)
|
rs118203699
|
0.00001
|
NM_000368.5(TSC1):c.2503-21T>C
|
rs118203703
|
0.00001
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
NM_000368.5(TSC1):c.2976-18T>C
|
rs397514866
|
0.00001
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
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.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.376G>A (p.Val126Ile)
|
rs397514843
|
0.00001
|
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)
|
rs118203381
|
0.00001
|
NM_000368.5(TSC1):c.555C>T (p.Tyr185=)
|
rs118203398
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000368.5(TSC1):c.966G>A (p.Met322Ile)
|
rs397514807
|
0.00001
|
NM_000368.4(TSC1):c.1030delG
|
rs118203486
|
|
NM_000368.4(TSC1):c.2096_2097ins28 (p.?)
|
|
|
NM_000368.4(TSC1):c.2626_2975del
|
|
|
NM_000368.4(TSC1):c.2626_3495del
|
|
|
NM_000368.5(TSC1):c.*1332C>T
|
rs397514841
|
|
NM_000368.5(TSC1):c.*1396T>C
|
rs397514790
|
|
NM_000368.5(TSC1):c.*2230A>G
|
rs397514781
|
|
NM_000368.5(TSC1):c.*2641G>T
|
rs397514827
|
|
NM_000368.5(TSC1):c.*2893del
|
rs143549363
|
|
NM_000368.5(TSC1):c.*3258G>C
|
rs397514877
|
|
NM_000368.5(TSC1):c.*3260G>C
|
rs397514782
|
|
NM_000368.5(TSC1):c.*361C>T
|
rs397514844
|
|
NM_000368.5(TSC1):c.*3935C>T
|
rs397514787
|
|
NM_000368.5(TSC1):c.*3936C>T
|
rs397514853
|
|
NM_000368.5(TSC1):c.*4591G>T
|
rs397514821
|
|
NM_000368.5(TSC1):c.-80-51del
|
rs1227429293
|
|
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter)
|
rs118203481
|
|
NM_000368.5(TSC1):c.1007_1016del (p.Arg336fs)
|
rs397514849
|
|
NM_000368.5(TSC1):c.1020del (p.Glu340fs)
|
rs118203484
|
|
NM_000368.5(TSC1):c.1029+1G>A
|
rs118203485
|
|
NM_000368.5(TSC1):c.1030-1G>A
|
rs118203489
|
|
NM_000368.5(TSC1):c.1030-3C>G
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-9A>G
|
rs118203487
|
|
NM_000368.5(TSC1):c.1040G>A (p.Trp347Ter)
|
rs118203490
|
|
NM_000368.5(TSC1):c.106+47A>C
|
rs373390352
|
|
NM_000368.5(TSC1):c.107-2A>G
|
rs118203332
|
|
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs)
|
rs118203494
|
|
NM_000368.5(TSC1):c.109dup (p.Arg37fs)
|
rs118203333
|
|
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs)
|
rs118203495
|
|
NM_000368.5(TSC1):c.1105C>T (p.Leu369=)
|
rs118203496
|
|
NM_000368.5(TSC1):c.1110dup (p.His371fs)
|
rs118203497
|
|
NM_000368.5(TSC1):c.1112_1113dup (p.Pro372fs)
|
rs118203498
|
|
NM_000368.5(TSC1):c.1118dup (p.Tyr373Ter)
|
rs118203499
|
|
NM_000368.5(TSC1):c.1141+1G>T
|
rs397514819
|
|
NM_000368.5(TSC1):c.1152del (p.Gly385fs)
|
rs118203501
|
|
NM_000368.5(TSC1):c.1166del (p.Gly389fs)
|
rs397514832
|
|
NM_000368.5(TSC1):c.1196_1209del (p.Pro399fs)
|
rs118203502
|
|
NM_000368.5(TSC1):c.1203del (p.His402fs)
|
rs118203503
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.1249del (p.Thr417fs)
|
rs397514792
|
|
NM_000368.5(TSC1):c.1250del (p.Thr417fs)
|
rs397514778
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)
|
rs118203509
|
|
NM_000368.5(TSC1):c.1279del (p.Ser427fs)
|
rs118203510
|
|
NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter)
|
rs118203511
|
|
NM_000368.5(TSC1):c.130dup (p.Thr44fs)
|
rs118203336
|
|
NM_000368.5(TSC1):c.131_132dup (p.Leu45fs)
|
rs118203337
|
|
NM_000368.5(TSC1):c.1331C>A (p.Ser444Ter)
|
rs118203512
|
|
NM_000368.5(TSC1):c.1331C>G (p.Ser444Ter)
|
rs118203512
|
|
NM_000368.5(TSC1):c.1333+1dup
|
rs118203514
|
|
NM_000368.5(TSC1):c.1338del (p.Glu446fs)
|
rs118203517
|
|
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu)
|
rs397514848
|
|
NM_000368.5(TSC1):c.1361_1398del (p.Val454fs)
|
rs118203520
|
|
NM_000368.5(TSC1):c.1364del (p.Thr455fs)
|
rs118203521
|
|
NM_000368.5(TSC1):c.1366_1367del (p.Leu456fs)
|
rs397514798
|
|
NM_000368.5(TSC1):c.1366_1367insGA (p.Leu456fs)
|
rs118203522
|
|
NM_000368.5(TSC1):c.1368A>C (p.Leu456=)
|
rs397514856
|
|
NM_000368.5(TSC1):c.1369del (p.Ser457fs)
|
rs118203523
|
|
NM_000368.5(TSC1):c.1371T>C (p.Ser457=)
|
rs118203524
|
|
NM_000368.5(TSC1):c.1379del (p.Pro460fs)
|
rs118203525
|
|
NM_000368.5(TSC1):c.1411_1412insT (p.Asp471fs)
|
rs118203526
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1431dup (p.Glu478fs)
|
rs397514858
|
|
NM_000368.5(TSC1):c.1432_1433dup (p.Glu479fs)
|
rs118203528
|
|
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly)
|
rs118203529
|
|
NM_000368.5(TSC1):c.1439-1G>A
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-2A>G
|
rs118203531
|
|
NM_000368.5(TSC1):c.1439-2A>T
|
rs118203531
|
|
NM_000368.5(TSC1):c.1452del (p.Glu485fs)
|
rs397514797
|
|
NM_000368.5(TSC1):c.145del (p.Tyr49fs)
|
rs118203339
|
|
NM_000368.5(TSC1):c.1462G>T (p.Glu488Ter)
|
rs118203533
|
|
NM_000368.5(TSC1):c.146del (p.Tyr49fs)
|
rs397514861
|
|
NM_000368.5(TSC1):c.1470del (p.Thr491fs)
|
rs118203534
|
|
NM_000368.5(TSC1):c.1481dup (p.Glu495fs)
|
rs118203535
|
|
NM_000368.5(TSC1):c.148del (p.Leu50fs)
|
rs118203340
|
|
NM_000368.5(TSC1):c.1490_1491del (p.Val497fs)
|
rs118203536
|
|
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.1501G>T (p.Gly501Ter)
|
rs118203539
|
|
NM_000368.5(TSC1):c.1503del (p.Gly502fs)
|
rs397514876
|
|
NM_000368.5(TSC1):c.1515_1516dup (p.Pro506fs)
|
rs281875358
|
|
NM_000368.5(TSC1):c.1515dup (p.Pro506fs)
|
rs118203540
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs)
|
rs118203544
|
|
NM_000368.5(TSC1):c.1533del (p.Leu512fs)
|
rs118203545
|
|
NM_000368.5(TSC1):c.1535_1536del (p.Leu512fs)
|
rs397514823
|
|
NM_000368.5(TSC1):c.1542_1543insG (p.Ser515fs)
|
rs118203546
|
|
NM_000368.5(TSC1):c.1559del (p.His520fs)
|
rs118203547
|
|
NM_000368.5(TSC1):c.1572C>G (p.Ser524=)
|
rs397514810
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1615del (p.Ser539fs)
|
rs118203551
|
|
NM_000368.5(TSC1):c.1631_1647del (p.Gly544fs)
|
rs118203552
|
|
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)
|
rs118203343
|
|
NM_000368.5(TSC1):c.1662del (p.Pro554_Ile555insTer)
|
rs118203554
|
|
NM_000368.5(TSC1):c.1664del (p.Ile555fs)
|
rs397514829
|
|
NM_000368.5(TSC1):c.1669C>T (p.Leu557=)
|
rs118203555
|
|
NM_000368.5(TSC1):c.1669del (p.Leu557fs)
|
rs118203556
|
|
NM_000368.5(TSC1):c.1676dup (p.Cys559fs)
|
rs118203558
|
|
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.1683_1705dup (p.Asp569fs)
|
rs118203560
|
|
NM_000368.5(TSC1):c.1687del (p.Asp563fs)
|
rs118203561
|
|
NM_000368.5(TSC1):c.1692_1693del (p.Ser565fs)
|
rs118203562
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1703dup (p.Asp569fs)
|
rs397514777
|
|
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
|
rs118203564
|
|
NM_000368.5(TSC1):c.1717C>T (p.Gln573Ter)
|
rs118203565
|
|
NM_000368.5(TSC1):c.1724C>T (p.Ser575Phe)
|
rs118203566
|
|
NM_000368.5(TSC1):c.1727_1742del (p.Leu576fs)
|
rs118203568
|
|
NM_000368.5(TSC1):c.1729G>T (p.Glu577Ter)
|
rs118203570
|
|
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp)
|
rs118203571
|
|
NM_000368.5(TSC1):c.1736del (p.Ser579fs)
|
rs118203572
|
|
NM_000368.5(TSC1):c.1746dup (p.Pro583fs)
|
rs118203573
|
|
NM_000368.5(TSC1):c.1749_1750del (p.Pro585fs)
|
rs118203574
|
|
NM_000368.5(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer)
|
rs118203575
|
|
NM_000368.5(TSC1):c.1757_1768delinsCA (p.Cys586fs)
|
rs397514857
|
|
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)
|
rs397514846
|
|
NM_000368.5(TSC1):c.1761A>G (p.Lys587=)
|
rs118203577
|
|
NM_000368.5(TSC1):c.1766del (p.Pro589fs)
|
rs397514811
|
|
NM_000368.5(TSC1):c.1767A>G (p.Pro589=)
|
rs118203578
|
|
NM_000368.5(TSC1):c.1773_1774dup (p.Thr592fs)
|
rs118203579
|
|
NM_000368.5(TSC1):c.1776G>T (p.Thr592=)
|
rs118203580
|
|
NM_000368.5(TSC1):c.1777A>T (p.Arg593Ter)
|
rs118203581
|
|
NM_000368.5(TSC1):c.1788del (p.Phe596fs)
|
rs118203582
|
|
NM_000368.5(TSC1):c.1791_1792dup (p.Ser598fs)
|
rs118203583
|
|
NM_000368.5(TSC1):c.1792dup (p.Ser598fs)
|
rs118203583
|
|
NM_000368.5(TSC1):c.181_189del (p.Thr62_Leu64del)
|
rs118203344
|
|
NM_000368.5(TSC1):c.1823_1824del (p.Leu607_Phe608insTer)
|
rs118203585
|
|
NM_000368.5(TSC1):c.1823_1824dup (p.Glu609fs)
|
rs118203585
|
|
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter)
|
rs118203587
|
|
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.1839A>G (p.Pro613=)
|
rs118203588
|
|
NM_000368.5(TSC1):c.1841del (p.Lys614fs)
|
rs118203589
|
|
NM_000368.5(TSC1):c.1849C>G (p.His617Asp)
|
rs397514854
|
|
NM_000368.5(TSC1):c.1851del (p.His618fs)
|
rs118203590
|
|
NM_000368.5(TSC1):c.1857del (p.Phe619fs)
|
rs118203591
|
|
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)
|
rs397514815
|
|
NM_000368.5(TSC1):c.1883T>A (p.Leu628Ter)
|
rs118203592
|
|
NM_000368.5(TSC1):c.1883T>G (p.Leu628Ter)
|
rs118203592
|
|
NM_000368.5(TSC1):c.1884_1905del (p.Lys629fs)
|
rs397514796
|
|
NM_000368.5(TSC1):c.1886del (p.Lys629fs)
|
rs118203594
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
|
|
NM_000368.5(TSC1):c.1890dup (p.Ala631fs)
|
rs118203596
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1911del (p.Asp638fs)
|
rs397514801
|
|
NM_000368.5(TSC1):c.191_199del (p.Leu64_Pro67delinsSer)
|
rs118203346
|
|
NM_000368.5(TSC1):c.1942del (p.Val648fs)
|
rs118203600
|
|
NM_000368.5(TSC1):c.1955_1956del (p.Leu652fs)
|
rs118203601
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.1964del (p.Gln655fs)
|
rs397514793
|
|
NM_000368.5(TSC1):c.1968A>C (p.Gly656=)
|
rs118203607
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1997+17C>G
|
rs397514860
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+1G>C
|
rs118203610
|
|
NM_000368.5(TSC1):c.1998-1G>A
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-1G>C
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-54C>T
|
rs118203613
|
|
NM_000368.5(TSC1):c.1998G>A (p.Lys666=)
|
rs118203616
|
|
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)
|
rs118203617
|
|
NM_000368.5(TSC1):c.2022C>T (p.Val674=)
|
rs118203618
|
|
NM_000368.5(TSC1):c.2022del (p.Asp675fs)
|
rs118203619
|
|
NM_000368.5(TSC1):c.2023del (p.Asp675fs)
|
rs118203620
|
|
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter)
|
rs118203621
|
|
NM_000368.5(TSC1):c.2030_2040del (p.Thr677fs)
|
rs118203622
|
|
NM_000368.5(TSC1):c.2033_2041+14del
|
rs397514817
|
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
|
NM_000368.5(TSC1):c.2041+1G>A
|
rs397514842
|
|
NM_000368.5(TSC1):c.2041+2T>A
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041+2T>C
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)
|
rs118203624
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000368.5(TSC1):c.2046_2047del (p.Pro683fs)
|
rs397514869
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter)
|
rs118203629
|
|
NM_000368.5(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer)
|
rs118203630
|
|
NM_000368.5(TSC1):c.2070_2097dup (p.Asn700fs)
|
rs1554815323
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2082del (p.Gln694fs)
|
rs118203632
|
|
NM_000368.5(TSC1):c.2090del (p.Leu697fs)
|
rs118203633
|
|
NM_000368.5(TSC1):c.2093T>G (p.Leu698Arg)
|
rs397514802
|
|
NM_000368.5(TSC1):c.2094del (p.His699fs)
|
rs118203634
|
|
NM_000368.5(TSC1):c.2097dup (p.Asn700fs)
|
rs118203635
|
|
NM_000368.5(TSC1):c.210+1G>A
|
rs118203348
|
|
NM_000368.5(TSC1):c.2101_2102del (p.Gln701fs)
|
rs118203637
|
|
NM_000368.5(TSC1):c.2101_2107del (p.Gln701fs)
|
rs397514791
|
|
NM_000368.5(TSC1):c.2101del (p.Gln701fs)
|
rs118203636
|
|
NM_000368.5(TSC1):c.2103G>T (p.Gln701His)
|
rs118203639
|
|
NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2103_2109dup (p.Tyr704fs)
|
rs118203641
|
|
NM_000368.5(TSC1):c.2106_2107insGTTTA (p.Leu703fs)
|
rs118203642
|
|
NM_000368.5(TSC1):c.2106delinsGT (p.Leu703fs)
|
rs397514838
|
|
NM_000368.5(TSC1):c.2109_2110del (p.Leu703_Tyr704insTer)
|
rs118203643
|
|
NM_000368.5(TSC1):c.211-11dup
|
rs397514775
|
|
NM_000368.5(TSC1):c.211-16T>C
|
rs118203351
|
|
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.2110dup (p.Tyr704fs)
|
rs118203644
|
|
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
|
rs118203645
|
|
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)
|
rs118203646
|
|
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)
|
rs397514874
|
|
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2135_2139del (p.His712fs)
|
rs118203648
|
|
NM_000368.5(TSC1):c.2145del (p.Asn716fs)
|
rs118203650
|
|
NM_000368.5(TSC1):c.2146_2153dup (p.Leu719fs)
|
rs397514803
|
|
NM_000368.5(TSC1):c.2151dup (p.Arg718fs)
|
rs118203651
|
|
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro)
|
rs118203354
|
|
NM_000368.5(TSC1):c.2164A>T (p.Lys722Ter)
|
rs397514772
|
|
NM_000368.5(TSC1):c.2169del (p.Ile724fs)
|
rs118203652
|
|
NM_000368.5(TSC1):c.2173_2176del (p.Lys725fs)
|
rs118203653
|
|
NM_000368.5(TSC1):c.2175dup (p.Ala726fs)
|
rs118203654
|
|
NM_000368.5(TSC1):c.2177C>A (p.Ala726Glu)
|
rs118203655
|
|
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)
|
rs397514820
|
|
NM_000368.5(TSC1):c.2191del (p.Glu731fs)
|
rs118203656
|
|
NM_000368.5(TSC1):c.2209-35A>G
|
rs118203659
|
|
NM_000368.5(TSC1):c.2209-9C>T
|
rs118203660
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)
|
rs118203662
|
|
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)
|
rs118203663
|
|
NM_000368.5(TSC1):c.2260C>T (p.Leu754=)
|
rs118203664
|
|
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs)
|
rs118203665
|
|
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
|
rs397514783
|
|
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn)
|
rs118203355
|
|
NM_000368.5(TSC1):c.2280_2295del (p.Tyr761fs)
|
rs118203666
|
|
NM_000368.5(TSC1):c.2281_2284dup (p.Asn762fs)
|
rs118203667
|
|
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2283C>G (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)
|
rs118203671
|
|
NM_000368.5(TSC1):c.2291del (p.Leu764fs)
|
rs118203672
|
|
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2298_2320del (p.Gln767fs)
|
rs118203674
|
|
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter)
|
rs118203675
|
|
NM_000368.5(TSC1):c.2317del (p.Thr773fs)
|
rs118203676
|
|
NM_000368.5(TSC1):c.2319del (p.Lys774fs)
|
rs118203677
|
|
NM_000368.5(TSC1):c.2328_2329del (p.His776fs)
|
rs118203678
|
|
NM_000368.5(TSC1):c.2329del (p.Ser777fs)
|
rs397514780
|
|
NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter)
|
rs118203679
|
|
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)
|
rs118203680
|
|
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs)
|
rs397514855
|
|
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)
|
rs118203681
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2357del (p.Arg786fs)
|
rs118203683
|
|
NM_000368.5(TSC1):c.2360_2364del (p.Glu787fs)
|
rs118203684
|
|
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)
|
rs118203685
|
|
NM_000368.5(TSC1):c.2364del (p.Glu788fs)
|
rs118203686
|
|
NM_000368.5(TSC1):c.2387dup (p.Leu796fs)
|
rs397514786
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.2392-1G>A
|
rs397514822
|
|
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)
|
rs118203687
|
|
NM_000368.5(TSC1):c.2407del (p.Cys803fs)
|
rs118203688
|
|
NM_000368.5(TSC1):c.2412_2425del (p.Asn805fs)
|
rs118203689
|
|
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)
|
rs118203690
|
|
NM_000368.5(TSC1):c.2421dup (p.Ala808fs)
|
rs118203691
|
|
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2456_2459del (p.Asn819fs)
|
rs118203693
|
|
NM_000368.5(TSC1):c.2465_2466del (p.Cys822fs)
|
rs118203694
|
|
NM_000368.5(TSC1):c.2468_2469insG (p.His823fs)
|
rs118203696
|
|
NM_000368.5(TSC1):c.2468del (p.His823fs)
|
rs118203695
|
|
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer)
|
rs118203697
|
|
NM_000368.5(TSC1):c.2471_2472del (p.Thr824fs)
|
rs118203698
|
|
NM_000368.5(TSC1):c.2485A>T (p.Ser829Cys)
|
rs118203699
|
|
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)
|
rs118203700
|
|
NM_000368.5(TSC1):c.2501dup (p.Leu835fs)
|
rs118203701
|
|
NM_000368.5(TSC1):c.2503-1G>T
|
rs118203705
|
|
NM_000368.5(TSC1):c.2503-2A>G
|
rs118203704
|
|
NM_000368.5(TSC1):c.2503-35T>C
|
rs118203702
|
|
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)
|
rs118203706
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.2510dup (p.Asn837fs)
|
rs118203709
|
|
NM_000368.5(TSC1):c.2521dup (p.Val841fs)
|
rs397514850
|
|
NM_000368.5(TSC1):c.2523C>T (p.Val841=)
|
rs397514825
|
|
NM_000368.5(TSC1):c.2528_2534del (p.Gln843fs)
|
rs118203710
|
|
NM_000368.5(TSC1):c.252dup (p.Thr85fs)
|
rs118203358
|
|
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)
|
rs118203711
|
|
NM_000368.5(TSC1):c.2569del (p.Glu857fs)
|
rs118203712
|
|
NM_000368.5(TSC1):c.2569dup (p.Glu857fs)
|
rs118203712
|
|
NM_000368.5(TSC1):c.2582del (p.Leu861fs)
|
rs397514865
|
|
NM_000368.5(TSC1):c.2595del (p.Gln865fs)
|
rs118203714
|
|
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)
|
rs397514776
|
|
NM_000368.5(TSC1):c.260_261insGA (p.Ser88fs)
|
rs118203359
|
|
NM_000368.5(TSC1):c.2626-1G>A
|
rs397514847
|
|
NM_000368.5(TSC1):c.2626-2A>G
|
rs118203717
|
|
NM_000368.5(TSC1):c.2626-4T[17_21]
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2650dup (p.Tyr884fs)
|
rs118203722
|
|
NM_000368.5(TSC1):c.2652T>A (p.Tyr884Ter)
|
rs397514805
|
|
NM_000368.5(TSC1):c.2657_2658del (p.Lys886fs)
|
rs397514788
|
|
NM_000368.5(TSC1):c.2658del (p.Glu887fs)
|
rs397514788
|
|
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672del (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)
|
rs118203726
|
|
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)
|
rs118203727
|
|
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2694del (p.Thr899fs)
|
rs118203729
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.2699del (p.Gln900fs)
|
rs118203731
|
|
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)
|
rs118203732
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.272C>A (p.Ser91Ter)
|
rs118203361
|
|
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)
|
rs397514873
|
|
NM_000368.5(TSC1):c.276_277insAA (p.Leu93fs)
|
rs118203362
|
|
NM_000368.5(TSC1):c.276dup (p.Leu93fs)
|
rs118203362
|
|
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)
|
rs397514879
|
|
NM_000368.5(TSC1):c.2781_2784del (p.Lys927fs)
|
rs397514845
|
|
NM_000368.5(TSC1):c.2786_2787del (p.Tyr929fs)
|
rs118203734
|
|
NM_000368.5(TSC1):c.278T>G (p.Leu93Arg)
|
rs118203363
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
NM_000368.5(TSC1):c.2813+3_2813+21del
|
rs118203737
|
|
NM_000368.5(TSC1):c.2813_2813+4del
|
rs118203736
|
|
NM_000368.5(TSC1):c.2830_2831insGCCTG (p.Ala944fs)
|
rs118203739
|
|
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)
|
rs118203364
|
|
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)
|
rs118203365
|
|
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.3147G>C (p.Glu1049Asp)
|
rs397514831
|
|
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=)
|
rs118203747
|
|
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=)
|
rs118203748
|
|
NM_000368.5(TSC1):c.324_325del (p.Gln109fs)
|
rs397514795
|
|
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)
|
rs397514774
|
|
NM_000368.5(TSC1):c.334_335dup (p.Leu113fs)
|
rs118203366
|
|
NM_000368.5(TSC1):c.338del (p.Leu113fs)
|
rs118203367
|
|
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)
|
rs118203368
|
|
NM_000368.5(TSC1):c.362A>G (p.Lys121Arg)
|
rs118203369
|
|
NM_000368.5(TSC1):c.363+1G>A
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1dup
|
rs118203371
|
|
NM_000368.5(TSC1):c.363+47T>C
|
rs118203375
|
|
NM_000368.5(TSC1):c.363+5G>A
|
rs118203374
|
|
NM_000368.5(TSC1):c.363G>A (p.Lys121=)
|
rs118203370
|
|
NM_000368.5(TSC1):c.364-1G>C
|
rs118203376
|
|
NM_000368.5(TSC1):c.372dup (p.Asp125Ter)
|
rs118203377
|
|
NM_000368.5(TSC1):c.381_383del (p.Val128del)
|
rs118203378
|
|
NM_000368.5(TSC1):c.385dup (p.Leu129fs)
|
rs397514852
|
|
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)
|
rs397514784
|
|
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)
|
rs118203380
|
|
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.433C>T (p.Gln145Ter)
|
rs118203382
|
|
NM_000368.5(TSC1):c.433_434del (p.Gln145fs)
|
rs118203383
|
|
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)
|
rs118203384
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000368.5(TSC1):c.504del (p.Lys168fs)
|
rs118203389
|
|
NM_000368.5(TSC1):c.508+1G>A
|
rs118203390
|
|
NM_000368.5(TSC1):c.508+1G>C
|
rs118203390
|
|
NM_000368.5(TSC1):c.509-15G>A
|
rs118203391
|
|
NM_000368.5(TSC1):c.520G>T (p.Glu174Ter)
|
rs118203392
|
|
NM_000368.5(TSC1):c.527_528del (p.Tyr176fs)
|
rs118203394
|
|
NM_000368.5(TSC1):c.530del (p.Leu177fs)
|
rs397514794
|
|
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro)
|
rs118203396
|
|
NM_000368.5(TSC1):c.542A>C (p.His181Pro)
|
rs397515294
|
|
NM_000368.5(TSC1):c.563_564del (p.Phe188fs)
|
rs118203399
|
|
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)
|
rs118203402
|
|
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.575del (p.Tyr192fs)
|
rs118203405
|
|
NM_000368.5(TSC1):c.576T>G (p.Tyr192Ter)
|
rs118203406
|
|
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter)
|
rs118203407
|
|
NM_000368.5(TSC1):c.590dup (p.Cys197fs)
|
rs397514868
|
|
NM_000368.5(TSC1):c.591dup (p.Asn198fs)
|
rs397514836
|
|
NM_000368.5(TSC1):c.593_595del (p.Asn198_Phe199delinsIle)
|
rs118203408
|
|
NM_000368.5(TSC1):c.597_603del (p.Val200fs)
|
rs118203409
|
|
NM_000368.5(TSC1):c.599dup (p.Ser201fs)
|
rs118203411
|
|
NM_000368.5(TSC1):c.602_604del (p.Ser201del)
|
rs118203412
|
|
NM_000368.5(TSC1):c.607_608dup (p.Leu203fs)
|
rs118203413
|
|
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro)
|
rs397514834
|
|
NM_000368.5(TSC1):c.624del (p.Ser208fs)
|
rs397514837
|
|
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.648del (p.Phe216fs)
|
rs118203417
|
|
NM_000368.5(TSC1):c.654dup (p.Val219fs)
|
rs118203418
|
|
NM_000368.5(TSC1):c.663+10A>C
|
rs397514833
|
|
NM_000368.5(TSC1):c.663+39dup
|
rs118203421
|
|
NM_000368.5(TSC1):c.663+7T>A
|
rs118203420
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.664-1G>C
|
rs118203423
|
|
NM_000368.5(TSC1):c.665del (p.Pro222fs)
|
rs118203425
|
|
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
|
rs118203426
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter)
|
rs118203429
|
|
NM_000368.5(TSC1):c.694del (p.Glu232fs)
|
rs118203428
|
|
NM_000368.5(TSC1):c.709dup (p.Ser237fs)
|
rs118203430
|
|
NM_000368.5(TSC1):c.70del (p.Asp24fs)
|
rs118203330
|
|
NM_000368.5(TSC1):c.712A>T (p.Lys238Ter)
|
rs397514816
|
|
NM_000368.5(TSC1):c.720_721insA (p.Glu241fs)
|
rs118203431
|
|
NM_000368.5(TSC1):c.724C>T (p.Leu242=)
|
rs118203432
|
|
NM_000368.5(TSC1):c.732del (p.Arg245fs)
|
rs118203433
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+1G>T
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+1del
|
rs118203435
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.737G>C (p.Arg246Thr)
|
rs118203436
|
|
NM_000368.5(TSC1):c.738-2A>G
|
rs118203440
|
|
NM_000368.5(TSC1):c.738-36_747del
|
rs397514839
|
|
NM_000368.5(TSC1):c.742A>T (p.Lys248Ter)
|
rs118203442
|
|
NM_000368.5(TSC1):c.745A>T (p.Arg249Ter)
|
rs118203443
|
|
NM_000368.5(TSC1):c.745del (p.Arg249fs)
|
rs118203444
|
|
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749T>G (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)
|
rs118203445
|
|
NM_000368.5(TSC1):c.749dup (p.Leu250fs)
|
rs118203445
|
|
NM_000368.5(TSC1):c.771del (p.Ile257fs)
|
rs118203449
|
|
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)
|
rs118203450
|
|
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer)
|
rs118203451
|
|
NM_000368.5(TSC1):c.813T>A (p.Tyr271Ter)
|
rs118203452
|
|
NM_000368.5(TSC1):c.814G>T (p.Glu272Ter)
|
rs397514872
|
|
NM_000368.5(TSC1):c.824_825dup (p.Ser276fs)
|
rs118203453
|
|
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)
|
rs118203454
|
|
NM_000368.5(TSC1):c.831_832del (p.His279fs)
|
rs118203455
|
|
NM_000368.5(TSC1):c.834_835del (p.His279fs)
|
rs118203457
|
|
NM_000368.5(TSC1):c.838C>T (p.Gln280Ter)
|
rs118203458
|
|
NM_000368.5(TSC1):c.845C>A (p.Ser282Ter)
|
rs118203459
|
|
NM_000368.5(TSC1):c.846dup (p.Ala283fs)
|
rs118203460
|
|
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)
|
rs397514867
|
|
NM_000368.5(TSC1):c.891T>A (p.Tyr297Ter)
|
rs118203461
|
|
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)
|
rs118203461
|
|
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.901_913+1del
|
rs118203465
|
|
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)
|
rs118203466
|
|
NM_000368.5(TSC1):c.912_913+5del
|
rs118203467
|
|
NM_000368.5(TSC1):c.913+1G>A
|
rs118203470
|
|
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)
|
rs118203468
|
|
NM_000368.5(TSC1):c.913G>T (p.Gly305Trp)
|
rs118203468
|
|
NM_000368.5(TSC1):c.914-18T>C
|
rs118203471
|
|
NM_000368.5(TSC1):c.915G>A (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.921T>C (p.Ala307=)
|
rs397514826
|
|
NM_000368.5(TSC1):c.936C>A (p.Tyr312Ter)
|
rs118203472
|
|
NM_000368.5(TSC1):c.972G>A (p.Gly324=)
|
rs118203473
|
|
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
|
rs118203474
|
|
NM_000368.5(TSC1):c.983dup (p.Thr329fs)
|
rs118203475
|
|
NM_000368.5(TSC1):c.988_989del (p.Leu330fs)
|
rs118203477
|
|
NM_000368.5(TSC1):c.988dup (p.Leu330fs)
|
rs118203476
|
|
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.994_995insA (p.Ser332fs)
|
rs118203480
|
|
TSC1:c.1142-22_1142-21del
|
rs118203500
|
|