NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
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
|
NC_000009.12:g.132944772C>T
|
rs538491949
|
0.00202
|
NM_000368.5(TSC1):c.*2109C>T
|
rs73552808
|
0.00200
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000368.5(TSC1):c.*2904G>T
|
rs559978998
|
0.00163
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_000368.5(TSC1):c.*3830C>T
|
rs544931538
|
0.00120
|
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.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
NM_000368.5(TSC1):c.*358C>T
|
rs147729052
|
0.00066
|
NM_000368.5(TSC1):c.*279T>G
|
rs554637460
|
0.00061
|
NM_000368.5(TSC1):c.*4680G>T
|
rs747969932
|
0.00055
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000368.5(TSC1):c.*3988G>A
|
rs563835484
|
0.00034
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000368.5(TSC1):c.2502+18A>C
|
rs200908079
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)
|
rs549467159
|
0.00008
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)
|
rs751247705
|
0.00006
|
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)
|
rs372583166
|
0.00005
|
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=)
|
rs201165286
|
0.00005
|
NM_000368.5(TSC1):c.*2638C>T
|
rs373845353
|
0.00004
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
NM_000368.5(TSC1):c.87T>C (p.Phe29=)
|
rs745384145
|
0.00003
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1716C>T (p.Cys572=)
|
rs752202276
|
0.00001
|
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)
|
rs760004541
|
0.00001
|
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)
|
rs878853966
|
0.00001
|
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)
|
rs118203752
|
0.00001
|
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=)
|
rs1157060310
|
0.00001
|
NM_000368.5(TSC1):c.378C>T (p.Val126=)
|
rs373173550
|
0.00001
|
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)
|
rs777484049
|
0.00001
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro)
|
rs774009225
|
0.00001
|
GRCh37/hg19 9q34.13(chr9:135800974-135801126)x1
|
|
|
NM_000368.5(TSC1):c.*1355C>A
|
rs749683153
|
|
NM_000368.5(TSC1):c.*2437G>A
|
|
|
NM_000368.5(TSC1):c.*295C>A
|
rs113549339
|
|
NM_000368.5(TSC1):c.*295C>G
|
rs113549339
|
|
NM_000368.5(TSC1):c.*3833C>A
|
|
|
NM_000368.5(TSC1):c.-144+134G>T
|
rs375418118
|
|
NM_000368.5(TSC1):c.-5A>G
|
rs1323766758
|
|
NM_000368.5(TSC1):c.1029+2T>C
|
rs1554817336
|
|
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)
|
rs118203491
|
|
NM_000368.5(TSC1):c.111del (p.Gly38fs)
|
rs1846929742
|
|
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu)
|
rs1845897946
|
|
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala)
|
rs1588313030
|
|
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.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1610A>G (p.His537Arg)
|
rs1845643427
|
|
NM_000368.5(TSC1):c.1732A>G (p.Thr578Ala)
|
|
|
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu)
|
rs1554815746
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1998-2A>C
|
rs1057518217
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)
|
rs118203646
|
|
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2268dup (p.Glu757fs)
|
|
|
NM_000368.5(TSC1):c.2293C>G (p.Gln765Glu)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.2391+12A>G
|
rs2131727338
|
|
NM_000368.5(TSC1):c.2502+2T>A
|
|
|
NM_000368.5(TSC1):c.2625+367A>G
|
rs1564474542
|
|
NM_000368.5(TSC1):c.2625G>C (p.Lys875Asn)
|
rs777437357
|
|
NM_000368.5(TSC1):c.2771del (p.Leu924fs)
|
rs1845139251
|
|
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)
|
rs774196458
|
|
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)
|
rs747162992
|
|
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val)
|
rs1588287204
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3394C>A (p.Pro1132Thr)
|
|
|
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)
|
rs759431801
|
|
NM_000368.5(TSC1):c.363+667A>T
|
rs1846769659
|
|
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)
|
rs118203450
|
|
NM_000368.5(TSC1):c.801A>G (p.Thr267=)
|
rs2132002475
|
|
NM_000368.5(TSC1):c.809C>A (p.Ser270Ter)
|
rs878853968
|
|
NM_000368.5(TSC1):c.903dup (p.Asn302fs)
|
rs1846003590
|
|
NM_000368.5(TSC1):c.913+1G>A
|
rs118203470
|
|
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)
|
rs766317920
|
|