NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
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.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
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.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.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.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.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.2626-4T>C
|
rs777386691
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)
|
rs118203723
|
0.00025
|
NM_000368.5(TSC1):c.810A>G (p.Ser270=)
|
rs142336706
|
0.00025
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
NM_000368.5(TSC1):c.1677C>T (p.Cys559=)
|
rs368317116
|
0.00021
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000368.5(TSC1):c.249C>T (p.Ala83=)
|
rs145783693
|
0.00013
|
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)
|
rs142954164
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala)
|
rs893232039
|
0.00012
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00011
|
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)
|
rs118203692
|
0.00011
|
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)
|
rs756514375
|
0.00010
|
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)
|
rs148931779
|
0.00010
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000368.5(TSC1):c.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.1051A>G (p.Met351Val)
|
rs781312535
|
0.00007
|
NM_000368.5(TSC1):c.1302A>G (p.Arg434=)
|
rs907840461
|
0.00007
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)
|
rs751247705
|
0.00006
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
NM_000368.5(TSC1):c.513C>T (p.His171=)
|
rs377196837
|
0.00006
|
NM_000368.5(TSC1):c.625A>G (p.Met209Val)
|
rs754980229
|
0.00006
|
NM_000368.5(TSC1):c.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.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.110G>A (p.Arg37His)
|
rs750441497
|
0.00004
|
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)
|
rs1461609607
|
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.1885A>C (p.Lys629Gln)
|
rs865941509
|
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.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.912T>C (p.Tyr304=)
|
rs118203466
|
0.00004
|
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.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.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.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.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.1020A>G (p.Glu340=)
|
rs760233114
|
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.2542T>C (p.Leu848=)
|
rs780394011
|
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.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.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.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.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
NM_000368.5(TSC1):c.1038T>C (p.Leu346=)
|
rs753360364
|
0.00001
|
NM_000368.5(TSC1):c.1050T>C (p.Ser350=)
|
rs150777389
|
0.00001
|
NM_000368.5(TSC1):c.1059T>C (p.Cys353=)
|
rs1216537041
|
0.00001
|
NM_000368.5(TSC1):c.106+4A>G
|
rs373075566
|
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.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.1139C>G (p.Thr380Ser)
|
rs1064796512
|
0.00001
|
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu)
|
rs752575728
|
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.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.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.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1263+5G>A
|
rs767745683
|
0.00001
|
NM_000368.5(TSC1):c.1269G>C (p.Glu423Asp)
|
rs1272450087
|
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.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.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)
|
rs371908551
|
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.1602G>T (p.Glu534Asp)
|
rs1419023919
|
0.00001
|
NM_000368.5(TSC1):c.1626G>A (p.Lys542=)
|
rs756935981
|
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.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.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.1818T>A (p.His606Gln)
|
rs758769193
|
0.00001
|
NM_000368.5(TSC1):c.181C>T (p.Leu61=)
|
rs752047592
|
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.1997A>G (p.Lys666Arg)
|
rs1419720341
|
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.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.2109C>T (p.Leu703=)
|
rs1440846632
|
0.00001
|
NM_000368.5(TSC1):c.213C>A (p.His71Gln)
|
rs765578482
|
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.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.2394G>A (p.Thr798=)
|
rs1060504860
|
0.00001
|
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala)
|
rs1269896419
|
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.2503-4T>G
|
rs772414581
|
0.00001
|
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)
|
rs547498792
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000368.5(TSC1):c.2577C>T (p.Asn859=)
|
rs781553258
|
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.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.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.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.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.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.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.3268A>G (p.Met1090Val)
|
rs776694051
|
0.00001
|
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)
|
rs779599439
|
0.00001
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)
|
rs754282309
|
0.00001
|
NM_000368.5(TSC1):c.3305G>C (p.Ser1102Thr)
|
rs1263464680
|
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.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.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>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.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.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.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.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.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00001
|
NM_000368.5(TSC1):c.830T>C (p.Val277Ala)
|
rs200749357
|
0.00001
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
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.960A>G (p.Leu320=)
|
rs770183315
|
0.00001
|
NM_000368.5(TSC1):c.966G>A (p.Met322Ile)
|
rs397514807
|
0.00001
|
NM_000368.5(TSC1):c.-3A>G
|
|
|
NM_000368.5(TSC1):c.1002G>C (p.Ser334=)
|
rs200820603
|
|
NM_000368.5(TSC1):c.1002G>T (p.Ser334=)
|
|
|
NM_000368.5(TSC1):c.1005A>G (p.Thr335=)
|
rs753091213
|
|
NM_000368.5(TSC1):c.1006C>A (p.Arg336=)
|
rs118203483
|
|
NM_000368.5(TSC1):c.1007G>T (p.Arg336Leu)
|
|
|
NM_000368.5(TSC1):c.1008G>T (p.Arg336=)
|
rs2131974677
|
|
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.1024C>T (p.Pro342Ser)
|
|
|
NM_000368.5(TSC1):c.1025C>T (p.Pro342Leu)
|
rs1060503197
|
|
NM_000368.5(TSC1):c.1026A>G (p.Pro342=)
|
rs1588324071
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.1029+5G>A
|
rs1845952054
|
|
NM_000368.5(TSC1):c.1030-3C>T
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-5C>T
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1031C>A (p.Ala344Asp)
|
|
|
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.1054G>A (p.Val352Ile)
|
rs796053447
|
|
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)
|
rs876660024
|
|
NM_000368.5(TSC1):c.1059_1060insTAC (p.Cys353_Gly354insTyr)
|
rs2131962787
|
|
NM_000368.5(TSC1):c.106+5G>A
|
rs1554820973
|
|
NM_000368.5(TSC1):c.1060G>A (p.Gly354Ser)
|
|
|
NM_000368.5(TSC1):c.1061G>A (p.Gly354Asp)
|
|
|
NM_000368.5(TSC1):c.1063A>G (p.Met355Val)
|
rs1302832406
|
|
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile)
|
|
|
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn)
|
rs1845931432
|
|
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu)
|
rs2131961651
|
|
NM_000368.5(TSC1):c.1075C>G (p.Pro359Ala)
|
|
|
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser)
|
rs118203493
|
|
NM_000368.5(TSC1):c.107A>T (p.Asp36Val)
|
rs148468036
|
|
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del)
|
rs1554817252
|
|
NM_000368.5(TSC1):c.108C>G (p.Asp36Glu)
|
|
|
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala)
|
rs2131960121
|
|
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser)
|
rs1309560054
|
|
NM_000368.5(TSC1):c.10C>A (p.Gln4Lys)
|
|
|
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.1121G>A (p.Ser374Asn)
|
rs1564488001
|
|
NM_000368.5(TSC1):c.1123A>G (p.Lys375Glu)
|
rs1564487989
|
|
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.1133G>A (p.Gly378Asp)
|
|
|
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala)
|
rs1060503216
|
|
NM_000368.5(TSC1):c.1141+3A>G
|
|
|
NM_000368.5(TSC1):c.114C>T (p.Gly38=)
|
|
|
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg)
|
rs1845907002
|
|
NM_000368.5(TSC1):c.1152A>G (p.Lys384=)
|
rs1554817165
|
|
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro)
|
|
|
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
|
|
|
NM_000368.5(TSC1):c.1167A>T (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.1172C>T (p.Pro391Leu)
|
|
|
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser)
|
rs1845904791
|
|
NM_000368.5(TSC1):c.1188T>C (p.Pro396=)
|
|
|
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.1195_1196delinsTG (p.Pro399Ter)
|
|
|
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.1202G>A (p.Cys401Tyr)
|
rs2131942881
|
|
NM_000368.5(TSC1):c.1209G>C (p.Ser403=)
|
|
|
NM_000368.5(TSC1):c.1209G>T (p.Ser403=)
|
rs141184479
|
|
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val)
|
rs1554817130
|
|
NM_000368.5(TSC1):c.1219G>C (p.Val407Leu)
|
rs769331772
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.1222C>T (p.His408Tyr)
|
|
|
NM_000368.5(TSC1):c.1223A>C (p.His408Pro)
|
rs1554817122
|
|
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
|
|
|
NM_000368.5(TSC1):c.1227T>G (p.Ile409Met)
|
|
|
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.1234C>T (p.Pro412Ser)
|
|
|
NM_000368.5(TSC1):c.1236C>T (p.Pro412=)
|
rs1588321355
|
|
NM_000368.5(TSC1):c.1239G>A (p.Gln413=)
|
rs786203715
|
|
NM_000368.5(TSC1):c.1245A>G (p.Thr415=)
|
rs2131939065
|
|
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp)
|
|
|
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)
|
rs77464996
|
|
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala)
|
rs1845895299
|
|
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
|
|
|
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.1261_1263dup (p.Lys421_Glu422insLys)
|
|
|
NM_000368.5(TSC1):c.1263+37C>T
|
|
|
NM_000368.5(TSC1):c.1263+4C>T
|
rs1554817077
|
|
NM_000368.5(TSC1):c.1269G>A (p.Glu423=)
|
rs1272450087
|
|
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)
|
rs118203509
|
|
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg)
|
|
|
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)
|
rs587778721
|
|
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu)
|
rs1845727308
|
|
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)
|
rs762688935
|
|
NM_000368.5(TSC1):c.1294C>A (p.Leu432Ile)
|
|
|
NM_000368.5(TSC1):c.1296A>C (p.Leu432=)
|
rs1554816406
|
|
NM_000368.5(TSC1):c.1298A>G (p.His433Arg)
|
rs1554816403
|
|
NM_000368.5(TSC1):c.12A>G (p.Gln4=)
|
rs1588363707
|
|
NM_000368.5(TSC1):c.1305A>C (p.Gln435His)
|
rs1334781311
|
|
NM_000368.5(TSC1):c.1309C>G (p.His437Asp)
|
rs985183299
|
|
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr)
|
rs985183299
|
|
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser)
|
rs1399266964
|
|
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser)
|
rs2131879422
|
|
NM_000368.5(TSC1):c.1320T>C (p.Asn440=)
|
|
|
NM_000368.5(TSC1):c.1336G>C (p.Glu446Gln)
|
|
|
NM_000368.5(TSC1):c.1338G>A (p.Glu446=)
|
rs1410493156
|
|
NM_000368.5(TSC1):c.1338G>C (p.Glu446Asp)
|
|
|
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala)
|
rs1588313030
|
|
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu)
|
rs772868048
|
|
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu)
|
rs397514848
|
|
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp)
|
rs371093730
|
|
NM_000368.5(TSC1):c.1355G>T (p.Gly452Val)
|
|
|
NM_000368.5(TSC1):c.1359T>C (p.Ser453=)
|
rs1468470312
|
|
NM_000368.5(TSC1):c.1363A>G (p.Thr455Ala)
|
|
|
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.1382G>A (p.Gly461Glu)
|
rs140953644
|
|
NM_000368.5(TSC1):c.1385T>C (p.Phe462Ser)
|
rs1588312788
|
|
NM_000368.5(TSC1):c.1407A>C (p.Glu469Asp)
|
|
|
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val)
|
rs2131863099
|
|
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>A (p.Ile473Asn)
|
|
|
NM_000368.5(TSC1):c.1428T>C (p.Asp476=)
|
|
|
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)
|
rs1554816213
|
|
NM_000368.5(TSC1):c.1430A>T (p.Lys477Ile)
|
|
|
NM_000368.5(TSC1):c.1432G>C (p.Glu478Gln)
|
|
|
NM_000368.5(TSC1):c.1434A>G (p.Glu478=)
|
rs1588312602
|
|
NM_000368.5(TSC1):c.1439-10_1439-3del
|
rs753878222
|
|
NM_000368.5(TSC1):c.1443A>G (p.Ala481=)
|
rs1554816081
|
|
NM_000368.5(TSC1):c.1444A>G (p.Ile482Val)
|
|
|
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met)
|
rs1845658834
|
|
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del)
|
rs1554816071
|
|
NM_000368.5(TSC1):c.1467del (p.Thr490fs)
|
|
|
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile)
|
rs1564482593
|
|
NM_000368.5(TSC1):c.1476A>C (p.Ala492=)
|
rs1554816067
|
|
NM_000368.5(TSC1):c.1476A>G (p.Ala492=)
|
|
|
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
|
|
|
NM_000368.5(TSC1):c.1486C>T (p.Pro496Ser)
|
|
|
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.1492G>A (p.Val498Ile)
|
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.149T>G (p.Leu50Arg)
|
|
|
NM_000368.5(TSC1):c.1503A>C (p.Gly501=)
|
rs201810746
|
|
NM_000368.5(TSC1):c.1512C>T (p.Asp504=)
|
|
|
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.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1530C>T (p.Asp510=)
|
rs1554816033
|
|
NM_000368.5(TSC1):c.1533T>C (p.Ser511=)
|
rs1588310849
|
|
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe)
|
|
|
NM_000368.5(TSC1):c.1536C>T (p.Leu512=)
|
rs1264512400
|
|
NM_000368.5(TSC1):c.1538C>T (p.Pro513Leu)
|
|
|
NM_000368.5(TSC1):c.1541G>T (p.Gly514Val)
|
|
|
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.1558C>T (p.His520Tyr)
|
rs1845649293
|
|
NM_000368.5(TSC1):c.1563G>A (p.Ser521=)
|
rs1554816005
|
|
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>G (p.Thr52=)
|
rs1564503304
|
|
NM_000368.5(TSC1):c.156C>T (p.Thr52=)
|
rs1564503304
|
|
NM_000368.5(TSC1):c.1581G>C (p.Gln527His)
|
rs1554815989
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser)
|
rs751125011
|
|
NM_000368.5(TSC1):c.1587C>T (p.Ala529=)
|
|
|
NM_000368.5(TSC1):c.1588A>G (p.Ser530Gly)
|
|
|
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr)
|
|
|
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln)
|
|
|
NM_000368.5(TSC1):c.1602G>A (p.Glu534=)
|
|
|
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla)
|
rs1554815972
|
|
NM_000368.5(TSC1):c.1603C>G (p.Pro535Ala)
|
|
|
NM_000368.5(TSC1):c.1604C>T (p.Pro535Leu)
|
rs1164741723
|
|
NM_000368.5(TSC1):c.1608A>G (p.Leu536=)
|
|
|
NM_000368.5(TSC1):c.1611C>T (p.His537=)
|
rs898271020
|
|
NM_000368.5(TSC1):c.1614C>A (p.Ser538=)
|
|
|
NM_000368.5(TSC1):c.1614C>T (p.Ser538=)
|
rs878853961
|
|
NM_000368.5(TSC1):c.1623C>G (p.Asp541Glu)
|
rs1346059974
|
|
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu)
|
rs1845641716
|
|
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro)
|
rs1588310271
|
|
NM_000368.5(TSC1):c.1634C>G (p.Pro545Arg)
|
|
|
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
|
|
|
NM_000368.5(TSC1):c.1641A>G (p.Thr547=)
|
|
|
NM_000368.5(TSC1):c.1641A>T (p.Thr547=)
|
|
|
NM_000368.5(TSC1):c.1645A>G (p.Lys549Glu)
|
|
|
NM_000368.5(TSC1):c.1647G>A (p.Lys549=)
|
rs2131835538
|
|
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.1679G>A (p.Gly560Asp)
|
rs1395737285
|
|
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val)
|
rs1395737285
|
|
NM_000368.5(TSC1):c.1680C>T (p.Gly560=)
|
|
|
NM_000368.5(TSC1):c.1686T>C (p.Ala562=)
|
|
|
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn)
|
rs1554815931
|
|
NM_000368.5(TSC1):c.1687G>C (p.Asp563His)
|
rs1554815931
|
|
NM_000368.5(TSC1):c.1688A>G (p.Asp563Gly)
|
rs1588309959
|
|
NM_000368.5(TSC1):c.1689T>C (p.Asp563=)
|
|
|
NM_000368.5(TSC1):c.1695C>T (p.Ser565=)
|
rs1845634405
|
|
NM_000368.5(TSC1):c.1700C>A (p.Ala567Glu)
|
|
|
NM_000368.5(TSC1):c.1701G>C (p.Ala567=)
|
rs35478675
|
|
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.1710G>A (p.Arg570=)
|
rs777386797
|
|
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys)
|
|
|
NM_000368.5(TSC1):c.171A>G (p.Ala57=)
|
rs1060504853
|
|
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.1724del (p.Ser575fs)
|
rs1554815889
|
|
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.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.1735A>T (p.Ser579Cys)
|
|
|
NM_000368.5(TSC1):c.1737T>C (p.Ser579=)
|
rs1588309585
|
|
NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala)
|
rs1564481573
|
|
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser)
|
|
|
NM_000368.5(TSC1):c.1749C>T (p.Pro583=)
|
rs876659216
|
|
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)
|
rs786203799
|
|
NM_000368.5(TSC1):c.1752T>C (p.Ser584=)
|
|
|
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg)
|
rs1845627777
|
|
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser)
|
rs766367103
|
|
NM_000368.5(TSC1):c.175C>T (p.His59Tyr)
|
|
|
NM_000368.5(TSC1):c.1767A>C (p.Pro589=)
|
rs118203578
|
|
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.1776G>T (p.Thr592=)
|
rs118203580
|
|
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.1794C>A (p.Ser598Arg)
|
rs766438395
|
|
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu)
|
rs1845622314
|
|
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)
|
rs543077026
|
|
NM_000368.5(TSC1):c.1803T>A (p.Pro601=)
|
|
|
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr)
|
rs1588309106
|
|
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.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.1813G>A (p.Asp605Asn)
|
rs1588309025
|
|
NM_000368.5(TSC1):c.1816del (p.His606fs)
|
|
|
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)
|
rs1554815795
|
|
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu)
|
rs1845619679
|
|
NM_000368.5(TSC1):c.1829T>A (p.Val610Glu)
|
|
|
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.183G>A (p.Leu61=)
|
rs1588359435
|
|
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.1848C>G (p.Ala616=)
|
rs752286096
|
|
NM_000368.5(TSC1):c.1852C>G (p.His618Asp)
|
rs1588308804
|
|
NM_000368.5(TSC1):c.1853A>G (p.His618Arg)
|
rs2131818558
|
|
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val)
|
rs1554815776
|
|
NM_000368.5(TSC1):c.1858G>A (p.Val620Ile)
|
|
|
NM_000368.5(TSC1):c.1863C>T (p.Ile621=)
|
rs898222579
|
|
NM_000368.5(TSC1):c.186C>T (p.Thr62=)
|
rs1554820640
|
|
NM_000368.5(TSC1):c.1872T>C (p.Thr624=)
|
rs2131817057
|
|
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)
|
rs886038287
|
|
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.1893A>G (p.Ala631=)
|
|
|
NM_000368.5(TSC1):c.1893A>T (p.Ala631=)
|
rs2131815302
|
|
NM_000368.5(TSC1):c.1894A>G (p.Lys632Glu)
|
|
|
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg)
|
rs1554815747
|
|
NM_000368.5(TSC1):c.1903A>G (p.Thr635Ala)
|
|
|
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.1910A>G (p.Glu637Gly)
|
|
|
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)
|
rs372583166
|
|
NM_000368.5(TSC1):c.1920G>A (p.Val640=)
|
|
|
NM_000368.5(TSC1):c.1927A>T (p.Thr643Ser)
|
|
|
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.1937T>C (p.Met646Thr)
|
rs1588308288
|
|
NM_000368.5(TSC1):c.1941A>T (p.Glu647Asp)
|
|
|
NM_000368.5(TSC1):c.1944G>T (p.Val648=)
|
|
|
NM_000368.5(TSC1):c.1947G>A (p.Leu649=)
|
|
|
NM_000368.5(TSC1):c.1948G>A (p.Asp650Asn)
|
|
|
NM_000368.5(TSC1):c.1950C>T (p.Asp650=)
|
rs1845608638
|
|
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg)
|
|
|
NM_000368.5(TSC1):c.1958T>G (p.Ile653Arg)
|
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1962G>A (p.Gln654=)
|
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.1964A>T (p.Gln655Leu)
|
|
|
NM_000368.5(TSC1):c.1967G>A (p.Gly656Glu)
|
|
|
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala)
|
rs1554815701
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1983C>A (p.Ser661Arg)
|
|
|
NM_000368.5(TSC1):c.1986G>A (p.Lys662=)
|
rs2131807682
|
|
NM_000368.5(TSC1):c.1986G>T (p.Lys662Asn)
|
|
|
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys)
|
rs748733167
|
|
NM_000368.5(TSC1):c.1997+2T>G
|
rs2131806725
|
|
NM_000368.5(TSC1):c.1998-5C>T
|
rs1845548849
|
|
NM_000368.5(TSC1):c.1998-81A>C
|
|
|
NM_000368.5(TSC1):c.2009C>A (p.Pro670His)
|
|
|
NM_000368.5(TSC1):c.2010C>T (p.Pro670=)
|
rs1588305958
|
|
NM_000368.5(TSC1):c.2015A>C (p.Lys672Thr)
|
|
|
NM_000368.5(TSC1):c.2016G>A (p.Lys672=)
|
rs748487106
|
|
NM_000368.5(TSC1):c.2019T>G (p.Ser673=)
|
|
|
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.2023G>A (p.Asp675Asn)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2031C>A (p.Thr677=)
|
rs1060504855
|
|
NM_000368.5(TSC1):c.2033A>G (p.His678Arg)
|
rs745413532
|
|
NM_000368.5(TSC1):c.2037T>C (p.Phe679=)
|
|
|
NM_000368.5(TSC1):c.2037T>G (p.Phe679Leu)
|
|
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
|
NM_000368.5(TSC1):c.2041+2T>C
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041+5del
|
rs1564479424
|
|
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)
|
rs118203624
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000368.5(TSC1):c.2042-5A>T
|
rs118203627
|
|
NM_000368.5(TSC1):c.2042G>A (p.Gly681Asp)
|
|
|
NM_000368.5(TSC1):c.2043C>A (p.Gly681=)
|
|
|
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys)
|
rs919177189
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
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.2056G>A (p.Asp686Asn)
|
rs1406756346
|
|
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly)
|
rs786201465
|
|
NM_000368.5(TSC1):c.2064C>A (p.Ile688=)
|
rs878853963
|
|
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro)
|
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.2071C>G (p.Leu691Val)
|
rs1554815343
|
|
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe)
|
rs1554815343
|
|
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro)
|
rs876658244
|
|
NM_000368.5(TSC1):c.2074C>A (p.Arg692=)
|
|
|
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.2080_2095del (p.Gln694fs)
|
|
|
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe)
|
rs1845506304
|
|
NM_000368.5(TSC1):c.2087T>C (p.Leu696Pro)
|
|
|
NM_000368.5(TSC1):c.2087T>G (p.Leu696Arg)
|
|
|
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu)
|
rs876658838
|
|
NM_000368.5(TSC1):c.2091A>G (p.Leu697=)
|
|
|
NM_000368.5(TSC1):c.2091A>T (p.Leu697Phe)
|
|
|
NM_000368.5(TSC1):c.2092C>A (p.Leu698Met)
|
|
|
NM_000368.5(TSC1):c.2097C>G (p.His699Gln)
|
|
|
NM_000368.5(TSC1):c.210+1G>C
|
|
|
NM_000368.5(TSC1):c.2102A>C (p.Gln701Pro)
|
|
|
NM_000368.5(TSC1):c.2103G>A (p.Gln701=)
|
rs118203639
|
|
NM_000368.5(TSC1):c.2109C>G (p.Leu703=)
|
rs1440846632
|
|
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)
|
rs752054698
|
|
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.2118T>C (p.Arg706=)
|
rs2131766639
|
|
NM_000368.5(TSC1):c.2118T>G (p.Arg706=)
|
|
|
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu)
|
rs1845501093
|
|
NM_000368.5(TSC1):c.2127G>A (p.Arg709=)
|
|
|
NM_000368.5(TSC1):c.2127G>C (p.Arg709Ser)
|
|
|
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2132A>G (p.Gln711Arg)
|
|
|
NM_000368.5(TSC1):c.2136T>C (p.His712=)
|
rs1554815286
|
|
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)
|
|
|
NM_000368.5(TSC1):c.2140C>G (p.Leu714Val)
|
|
|
NM_000368.5(TSC1):c.2142C>T (p.Leu714=)
|
|
|
NM_000368.5(TSC1):c.2144G>T (p.Arg715Leu)
|
|
|
NM_000368.5(TSC1):c.2149A>C (p.Arg717=)
|
rs1057523194
|
|
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.2155C>G (p.Leu719Val)
|
|
|
NM_000368.5(TSC1):c.2155C>T (p.Leu719Phe)
|
|
|
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.2171T>C (p.Ile724Thr)
|
rs796053459
|
|
NM_000368.5(TSC1):c.2172C>T (p.Ile724=)
|
|
|
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
|
|
|
NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg)
|
|
|
NM_000368.5(TSC1):c.2177C>T (p.Ala726Val)
|
|
|
NM_000368.5(TSC1):c.2178A>G (p.Ala726=)
|
rs1588303718
|
|
NM_000368.5(TSC1):c.2181A>C (p.Ala727=)
|
rs1588303703
|
|
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr)
|
rs1845494587
|
|
NM_000368.5(TSC1):c.2192A>T (p.Glu731Val)
|
|
|
NM_000368.5(TSC1):c.2195A>G (p.His732Arg)
|
rs878853964
|
|
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.2206A>T (p.Met736Leu)
|
rs2131756215
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2209-2A>G
|
|
|
NM_000368.5(TSC1):c.2214T>A (p.Asp738Glu)
|
rs1588302102
|
|
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.2222A>C (p.Lys741Thr)
|
rs1588302047
|
|
NM_000368.5(TSC1):c.2223G>A (p.Lys741=)
|
rs1588302038
|
|
NM_000368.5(TSC1):c.2229A>T (p.Gln743His)
|
|
|
NM_000368.5(TSC1):c.222C>T (p.Asp74=)
|
rs1846821570
|
|
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.2236G>T (p.Asp746Tyr)
|
rs786203007
|
|
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile)
|
rs765643529
|
|
NM_000368.5(TSC1):c.225G>T (p.Arg75Ser)
|
|
|
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr)
|
rs1060503199
|
|
NM_000368.5(TSC1):c.2276C>G (p.Ala759Gly)
|
rs1554815021
|
|
NM_000368.5(TSC1):c.2276_2303del (p.Ala759fs)
|
|
|
NM_000368.5(TSC1):c.2277T>C (p.Ala759=)
|
|
|
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)
|
rs1264839312
|
|
NM_000368.5(TSC1):c.2291T>A (p.Leu764His)
|
|
|
NM_000368.5(TSC1):c.2291_2292delinsAA (p.Leu764Gln)
|
|
|
NM_000368.5(TSC1):c.2292C>A (p.Leu764=)
|
|
|
NM_000368.5(TSC1):c.2296G>C (p.Glu766Gln)
|
rs1588301609
|
|
NM_000368.5(TSC1):c.2297A>G (p.Glu766Gly)
|
rs1588301593
|
|
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)
|
rs118203675
|
|
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg)
|
rs1845449144
|
|
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys)
|
rs1588301564
|
|
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu)
|
|
|
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.2331C>G (p.Ser777Arg)
|
rs1554814967
|
|
NM_000368.5(TSC1):c.2331C>T (p.Ser777=)
|
|
|
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val)
|
rs1845445721
|
|
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys)
|
rs1845445479
|
|
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)
|
rs118203680
|
|
NM_000368.5(TSC1):c.2343G>A (p.Gln781=)
|
rs2131731368
|
|
NM_000368.5(TSC1):c.2349G>A (p.Gln783=)
|
|
|
NM_000368.5(TSC1):c.2355C>T (p.Asp785=)
|
|
|
NM_000368.5(TSC1):c.2356C>G (p.Arg786Gly)
|
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys)
|
rs1564477097
|
|
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp)
|
rs1564477079
|
|
NM_000368.5(TSC1):c.2364A>C (p.Glu788Asp)
|
|
|
NM_000368.5(TSC1):c.236A>T (p.Tyr79Phe)
|
|
|
NM_000368.5(TSC1):c.2372A>G (p.Asn791Ser)
|
rs876660894
|
|
NM_000368.5(TSC1):c.2374C>T (p.Gln792Ter)
|
|
|
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.2389C>A (p.Gln797Lys)
|
rs397514862
|
|
NM_000368.5(TSC1):c.238G>A (p.Val80Met)
|
rs1588355807
|
|
NM_000368.5(TSC1):c.2392-5G>A
|
rs1463016849
|
|
NM_000368.5(TSC1):c.2393C>G (p.Thr798Arg)
|
|
|
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met)
|
rs1331635112
|
|
NM_000368.5(TSC1):c.2412G>A (p.Arg804=)
|
rs1554814676
|
|
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr)
|
rs2131708510
|
|
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.2431C>T (p.Arg811Trp)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
NM_000368.5(TSC1):c.2438A>T (p.Glu813Val)
|
|
|
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr)
|
rs1588299170
|
|
NM_000368.5(TSC1):c.2445G>T (p.Lys815Asn)
|
|
|
NM_000368.5(TSC1):c.2447A>G (p.Lys816Arg)
|
|
|
NM_000368.5(TSC1):c.2448G>A (p.Lys816=)
|
rs1588299142
|
|
NM_000368.5(TSC1):c.2448G>T (p.Lys816Asn)
|
|
|
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.2454C>G (p.Asn818Lys)
|
rs1014587956
|
|
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)
|
rs1369700443
|
|
NM_000368.5(TSC1):c.2463G>C (p.Val821=)
|
rs764014190
|
|
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)
|
rs1554814639
|
|
NM_000368.5(TSC1):c.2472T>G (p.Thr824=)
|
rs762811821
|
|
NM_000368.5(TSC1):c.2474A>G (p.Glu825Gly)
|
|
|
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro)
|
rs76667066
|
|
NM_000368.5(TSC1):c.2485A>G (p.Ser829Gly)
|
|
|
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe)
|
rs773279842
|
|
NM_000368.5(TSC1):c.2496C>G (p.Ser832=)
|
rs1588298915
|
|
NM_000368.5(TSC1):c.2499A>G (p.Gln833=)
|
rs1554814615
|
|
NM_000368.5(TSC1):c.24G>A (p.Gly8=)
|
|
|
NM_000368.5(TSC1):c.2502+1G>A
|
|
|
NM_000368.5(TSC1):c.2503-4T>C
|
rs772414581
|
|
NM_000368.5(TSC1):c.2503C>G (p.Leu835Val)
|
|
|
NM_000368.5(TSC1):c.2505C>G (p.Leu835=)
|
|
|
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.2509A>C (p.Asn837His)
|
|
|
NM_000368.5(TSC1):c.2509A>G (p.Asn837Asp)
|
|
|
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser)
|
|
|
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly)
|
rs1845335475
|
|
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr)
|
rs1060503208
|
|
NM_000368.5(TSC1):c.2514T>A (p.Ser838Arg)
|
|
|
NM_000368.5(TSC1):c.2514T>C (p.Ser838=)
|
rs786203259
|
|
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg)
|
rs786203259
|
|
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys)
|
rs2131689008
|
|
NM_000368.5(TSC1):c.2516A>G (p.Glu839Gly)
|
rs1588297551
|
|
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.252C>T (p.Ala84=)
|
|
|
NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter)
|
rs1114167619
|
|
NM_000368.5(TSC1):c.2546_2552del (p.Asn849fs)
|
|
|
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter)
|
rs1588297391
|
|
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.2578G>A (p.Glu860Lys)
|
rs1169898186
|
|
NM_000368.5(TSC1):c.257G>A (p.Arg86His)
|
rs1846818019
|
|
NM_000368.5(TSC1):c.2587T>C (p.Leu863=)
|
|
|
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.2608C>G (p.His870Asp)
|
|
|
NM_000368.5(TSC1):c.2610C>G (p.His870Gln)
|
|
|
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.2614G>T (p.Asp872Tyr)
|
|
|
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro)
|
rs1554814368
|
|
NM_000368.5(TSC1):c.2624_2625+3dup
|
|
|
NM_000368.5(TSC1):c.2626-2A>C
|
rs118203717
|
|
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.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.262T>G (p.Ser88Ala)
|
|
|
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
|
rs778416424
|
|
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.263_277delinsTA (p.Ser88fs)
|
|
|
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile)
|
rs1218889799
|
|
NM_000368.5(TSC1):c.2643A>T (p.Lys881Asn)
|
rs1554813602
|
|
NM_000368.5(TSC1):c.2646C>A (p.Ala882=)
|
|
|
NM_000368.5(TSC1):c.2648C>T (p.Ala883Val)
|
|
|
NM_000368.5(TSC1):c.2649C>G (p.Ala883=)
|
rs1279318276
|
|
NM_000368.5(TSC1):c.2656A>G (p.Lys886Glu)
|
rs1554813568
|
|
NM_000368.5(TSC1):c.265A>G (p.Ile89Val)
|
rs1564501798
|
|
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.2666A>T (p.Glu889Val)
|
|
|
NM_000368.5(TSC1):c.2667A>G (p.Glu889=)
|
rs1554813546
|
|
NM_000368.5(TSC1):c.2667A>T (p.Glu889Asp)
|
|
|
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.2672A>G (p.Asn891Ser)
|
rs1060503203
|
|
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2673C>A (p.Asn891Lys)
|
|
|
NM_000368.5(TSC1):c.2675G>A (p.Arg892Lys)
|
|
|
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.2681A>G (p.His894Arg)
|
rs1588290830
|
|
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile)
|
rs576476807
|
|
NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile)
|
rs377132822
|
|
NM_000368.5(TSC1):c.2688C>T (p.Leu896=)
|
|
|
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.2697T>A (p.Thr899=)
|
|
|
NM_000368.5(TSC1):c.2697T>G (p.Thr899=)
|
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.2700G>C (p.Gln900His)
|
rs560986491
|
|
NM_000368.5(TSC1):c.2703G>A (p.Arg901=)
|
|
|
NM_000368.5(TSC1):c.2704C>A (p.Leu902Ile)
|
|
|
NM_000368.5(TSC1):c.2707G>C (p.Asp903His)
|
|
|
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala)
|
rs1554813482
|
|
NM_000368.5(TSC1):c.2713T>A (p.Ser905Thr)
|
|
|
NM_000368.5(TSC1):c.2715C>T (p.Ser905=)
|
|
|
NM_000368.5(TSC1):c.2717A>C (p.Gln906Pro)
|
|
|
NM_000368.5(TSC1):c.2718A>G (p.Gln906=)
|
rs1845144230
|
|
NM_000368.5(TSC1):c.2725A>G (p.Ile909Val)
|
|
|
NM_000368.5(TSC1):c.2728T>C (p.Leu910=)
|
|
|
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu)
|
rs118203361
|
|
NM_000368.5(TSC1):c.2733A>G (p.Glu911=)
|
|
|
NM_000368.5(TSC1):c.2736G>A (p.Leu912=)
|
rs1588290587
|
|
NM_000368.5(TSC1):c.273G>C (p.Ser91=)
|
rs115097221
|
|
NM_000368.5(TSC1):c.2746C>T (p.Leu916=)
|
rs2131633483
|
|
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.2755A>C (p.Lys919Gln)
|
rs1319954878
|
|
NM_000368.5(TSC1):c.2760C>T (p.Asp920=)
|
rs1226490074
|
|
NM_000368.5(TSC1):c.2763C>A (p.His921Gln)
|
|
|
NM_000368.5(TSC1):c.2773G>A (p.Glu925Lys)
|
|
|
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.2787T>C (p.Tyr929=)
|
rs753980869
|
|
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln)
|
rs1845137395
|
|
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.27G>A (p.Glu9=)
|
|
|
NM_000368.5(TSC1):c.27G>C (p.Glu9Asp)
|
|
|
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg)
|
rs2131630651
|
|
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.2813+1G>C
|
|
|
NM_000368.5(TSC1):c.2813+5C>T
|
rs1060503223
|
|
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys)
|
rs1249697208
|
|
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg)
|
rs1564471685
|
|
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.2824C>T (p.Gln942Ter)
|
|
|
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)
|
rs751362258
|
|
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.2837G>A (p.Ser946Asn)
|
rs1845130264
|
|
NM_000368.5(TSC1):c.2838C>A (p.Ser946Arg)
|
|
|
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly)
|
rs1845130132
|
|
NM_000368.5(TSC1):c.2840G>A (p.Arg947Lys)
|
|
|
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys)
|
rs989183765
|
|
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val)
|
|
|
NM_000368.5(TSC1):c.284A>G (p.His95Arg)
|
|
|
NM_000368.5(TSC1):c.2853G>A (p.Gln951=)
|
rs2131627425
|
|
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu)
|
|
|
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys)
|
rs1845129125
|
|
NM_000368.5(TSC1):c.2861T>C (p.Ile954Thr)
|
|
|
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn)
|
rs1488726432
|
|
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>C (p.Val96Leu)
|
rs987344953
|
|
NM_000368.5(TSC1):c.2873T>C (p.Phe958Ser)
|
|
|
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.2886C>A (p.Ile962=)
|
|
|
NM_000368.5(TSC1):c.2887T>G (p.Leu963Val)
|
|
|
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn)
|
rs1033463168
|
|
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu)
|
rs138541569
|
|
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.2905T>G (p.Leu969Val)
|
|
|
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly)
|
rs1372477238
|
|
NM_000368.5(TSC1):c.2919C>T (p.Gly973=)
|
|
|
NM_000368.5(TSC1):c.291A>G (p.Ile97Met)
|
rs1588355427
|
|
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe)
|
|
|
NM_000368.5(TSC1):c.2925G>A (p.Leu975=)
|
|
|
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)
|
rs796053448
|
|
NM_000368.5(TSC1):c.2927A>G (p.Lys976Arg)
|
|
|
NM_000368.5(TSC1):c.2928A>C (p.Lys976Asn)
|
|
|
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly)
|
rs2132233857
|
|
NM_000368.5(TSC1):c.2930A>C (p.Lys977Thr)
|
|
|
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile)
|
rs397514859
|
|
NM_000368.5(TSC1):c.2933T>A (p.Leu978His)
|
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.2938G>A (p.Glu980Lys)
|
rs876658600
|
|
NM_000368.5(TSC1):c.293G>T (p.Arg98Ile)
|
|
|
NM_000368.5(TSC1):c.2956G>A (p.Ala986Thr)
|
|
|
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val)
|
rs1239372124
|
|
NM_000368.5(TSC1):c.296T>C (p.Leu99Pro)
|
|
|
NM_000368.5(TSC1):c.2973A>G (p.Glu991=)
|
|
|
NM_000368.5(TSC1):c.2975+1G>A
|
|
|
NM_000368.5(TSC1):c.2975+4G>C
|
rs1057521710
|
|
NM_000368.5(TSC1):c.2976-13G>A
|
|
|
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.2990A>G (p.Asn997Ser)
|
|
|
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys)
|
|
|
NM_000368.5(TSC1):c.2992G>A (p.Asp998Asn)
|
|
|
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.3000C>G (p.Cys1000Trp)
|
rs552217429
|
|
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu)
|
|
|
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.3012G>A (p.Met1004Ile)
|
rs751970451
|
|
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile)
|
rs1588288220
|
|
NM_000368.5(TSC1):c.3015A>T (p.Val1005=)
|
|
|
NM_000368.5(TSC1):c.3022A>C (p.Asn1008His)
|
|
|
NM_000368.5(TSC1):c.3027A>G (p.Glu1009=)
|
rs1588288126
|
|
NM_000368.5(TSC1):c.3030G>A (p.Glu1010=)
|
rs118203741
|
|
NM_000368.5(TSC1):c.3034T>A (p.Ser1012Thr)
|
|
|
NM_000368.5(TSC1):c.3039C>A (p.Gly1013=)
|
|
|
NM_000368.5(TSC1):c.3039C>T (p.Gly1013=)
|
|
|
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg)
|
rs2131613922
|
|
NM_000368.5(TSC1):c.3042C>T (p.His1014=)
|
rs1394343524
|
|
NM_000368.5(TSC1):c.3048T>C (p.Gly1016=)
|
rs786203900
|
|
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys)
|
rs1554812930
|
|
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.3059C>T (p.Thr1020Ile)
|
rs1060503214
|
|
NM_000368.5(TSC1):c.305C>A (p.Ser102Tyr)
|
|
|
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)
|
rs1380396209
|
|
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=)
|
rs2131612277
|
|
NM_000368.5(TSC1):c.3064A>C (p.Arg1022=)
|
|
|
NM_000368.5(TSC1):c.3064A>G (p.Arg1022Gly)
|
|
|
NM_000368.5(TSC1):c.3065G>C (p.Arg1022Thr)
|
|
|
NM_000368.5(TSC1):c.3066del (p.Arg1022fs)
|
|
|
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.306T>C (p.Ser102=)
|
|
|
NM_000368.5(TSC1):c.3070A>T (p.Ser1024Cys)
|
|
|
NM_000368.5(TSC1):c.3073A>T (p.Ser1025Cys)
|
|
|
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn)
|
rs1845081620
|
|
NM_000368.5(TSC1):c.3074G>T (p.Ser1025Ile)
|
|
|
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.3084_3086del (p.Ser1030del)
|
rs1588287797
|
|
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)
|
rs796053450
|
|
NM_000368.5(TSC1):c.3087T>C (p.Ser1029=)
|
|
|
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
|
|
|
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.3102T>C (p.Gly1034=)
|
|
|
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp)
|
rs1176815392
|
|
NM_000368.5(TSC1):c.3105T>C (p.Gly1035=)
|
|
|
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.3107G>T (p.Gly1036Val)
|
|
|
NM_000368.5(TSC1):c.3109G>A (p.Gly1037Ser)
|
|
|
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.3115A>C (p.Ser1039Arg)
|
rs1490199228
|
|
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.3127A>G (p.Ser1043Gly)
|
rs1554812848
|
|
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.3141C>A (p.Thr1047=)
|
rs892228756
|
|
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.3147G>C (p.Glu1049Asp)
|
rs397514831
|
|
NM_000368.5(TSC1):c.3152C>A (p.Pro1051His)
|
rs1588287285
|
|
NM_000368.5(TSC1):c.3152C>G (p.Pro1051Arg)
|
|
|
NM_000368.5(TSC1):c.3153C>T (p.Pro1051=)
|
|
|
NM_000368.5(TSC1):c.3154C>T (p.Pro1052Ser)
|
|
|
NM_000368.5(TSC1):c.3155C>G (p.Pro1052Arg)
|
|
|
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu)
|
|
|
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)
|
|
|
NM_000368.5(TSC1):c.3159C>T (p.His1053=)
|
rs778413037
|
|
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met)
|
rs1167652701
|
|
NM_000368.5(TSC1):c.3173C>T (p.Pro1058Leu)
|
|
|
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.3184C>A (p.Arg1062=)
|
rs118203745
|
|
NM_000368.5(TSC1):c.3186G>T (p.Arg1062=)
|
|
|
NM_000368.5(TSC1):c.318G>A (p.Lys106=)
|
|
|
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val)
|
|
|
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro)
|
|
|
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile)
|
|
|
NM_000368.5(TSC1):c.319C>G (p.Leu107Val)
|
|
|
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys)
|
rs1845061706
|
|
NM_000368.5(TSC1):c.3207A>C (p.Glu1069Asp)
|
|
|
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.3215C>T (p.Ala1072Val)
|
rs779369226
|
|
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly)
|
rs1845059319
|
|
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)
|
|
|
NM_000368.5(TSC1):c.3222C>T (p.Ile1074=)
|
|
|
NM_000368.5(TSC1):c.3228C>G (p.Thr1076=)
|
|
|
NM_000368.5(TSC1):c.3230C>G (p.Thr1077Ser)
|
|
|
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=)
|
rs118203748
|
|
NM_000368.5(TSC1):c.3234G>A (p.Val1078=)
|
rs1564470051
|
|
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=)
|
rs1554812759
|
|
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>T (p.Pro1082=)
|
rs2131599043
|
|
NM_000368.5(TSC1):c.3248G>T (p.Ser1083Ile)
|
|
|
NM_000368.5(TSC1):c.3256A>C (p.Ser1086Arg)
|
|
|
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)
|
rs1845053380
|
|
NM_000368.5(TSC1):c.3258C>T (p.Ser1086=)
|
|
|
NM_000368.5(TSC1):c.325C>A (p.Gln109Lys)
|
|
|
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.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>G (p.Arg1093Gly)
|
|
|
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.3279A>C (p.Arg1093=)
|
rs772288584
|
|
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly)
|
rs1588286774
|
|
NM_000368.5(TSC1):c.3288T>C (p.Phe1096=)
|
|
|
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.3301G>A (p.Glu1101Lys)
|
rs1554812661
|
|
NM_000368.5(TSC1):c.3303G>C (p.Glu1101Asp)
|
rs118203751
|
|
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)
|
rs1263464680
|
|
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His)
|
rs1474184918
|
|
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe)
|
rs796053467
|
|
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn)
|
rs1060503226
|
|
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.3326T>C (p.Met1109Thr)
|
|
|
NM_000368.5(TSC1):c.3329C>A (p.Thr1110Asn)
|
|
|
NM_000368.5(TSC1):c.3330C>T (p.Thr1110=)
|
|
|
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn)
|
rs1554812642
|
|
NM_000368.5(TSC1):c.3333del (p.Ser1111fs)
|
|
|
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=)
|
rs761334590
|
|
NM_000368.5(TSC1):c.3349C>G (p.Leu1117Val)
|
|
|
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe)
|
rs1554820276
|
|
NM_000368.5(TSC1):c.3357A>G (p.Thr1119=)
|
rs2131592505
|
|
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=)
|
rs769478982
|
|
NM_000368.5(TSC1):c.3366C>T (p.Gly1122=)
|
|
|
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys)
|
|
|
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu)
|
rs1845037495
|
|
NM_000368.5(TSC1):c.3387dup (p.Lys1130fs)
|
rs1588286388
|
|
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg)
|
rs1588286359
|
|
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>T (p.Leu1133=)
|
rs2131589934
|
|
NM_000368.5(TSC1):c.339G>A (p.Leu113=)
|
rs1588355270
|
|
NM_000368.5(TSC1):c.33T>C (p.Leu11=)
|
rs1329395556
|
|
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=)
|
rs749612772
|
|
NM_000368.5(TSC1):c.3406G>C (p.Asp1136His)
|
|
|
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly)
|
rs1588286218
|
|
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.3422C>G (p.Ser1141Cys)
|
rs1344689860
|
|
NM_000368.5(TSC1):c.3424C>A (p.Pro1142Thr)
|
|
|
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.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.3432C>T (p.Thr1144=)
|
rs1588285980
|
|
NM_000368.5(TSC1):c.3443T>C (p.Val1148Ala)
|
|
|
NM_000368.5(TSC1):c.344C>A (p.Ser115Tyr)
|
|
|
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=)
|
rs1554812550
|
|
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.3467A>G (p.Tyr1156Cys)
|
|
|
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)
|
rs796053451
|
|
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser)
|
rs1845023976
|
|
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser)
|
rs2132230247
|
|
NM_000368.5(TSC1):c.3480T>C (p.His1160=)
|
|
|
NM_000368.5(TSC1):c.3481C>G (p.His1161Asp)
|
|
|
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg)
|
rs1564469371
|
|
NM_000368.5(TSC1):c.3483T>C (p.His1161=)
|
rs1588285797
|
|
NM_000368.5(TSC1):c.3485A>G (p.Glu1162Gly)
|
|
|
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.356G>A (p.Cys119Tyr)
|
rs1554820265
|
|
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe)
|
rs1554820265
|
|
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
|
|
|
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln)
|
rs1846807332
|
|
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn)
|
rs118203370
|
|
NM_000368.5(TSC1):c.364-3C>A
|
|
|
NM_000368.5(TSC1):c.364-4G>A
|
|
|
NM_000368.5(TSC1):c.367G>A (p.Asp123Asn)
|
|
|
NM_000368.5(TSC1):c.368A>C (p.Asp123Ala)
|
rs1588351019
|
|
NM_000368.5(TSC1):c.372T>A (p.Thr124=)
|
|
|
NM_000368.5(TSC1):c.372T>G (p.Thr124=)
|
rs1237342078
|
|
NM_000368.5(TSC1):c.373G>A (p.Asp125Asn)
|
|
|
NM_000368.5(TSC1):c.377T>C (p.Val126Ala)
|
|
|
NM_000368.5(TSC1):c.37A>C (p.Met13Leu)
|
|
|
NM_000368.5(TSC1):c.389C>A (p.Thr130Lys)
|
|
|
NM_000368.5(TSC1):c.389_390delinsT (p.Thr130fs)
|
rs1554819932
|
|
NM_000368.5(TSC1):c.391A>C (p.Thr131Pro)
|
|
|
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala)
|
rs1564499857
|
|
NM_000368.5(TSC1):c.394G>A (p.Gly132Ser)
|
|
|
NM_000368.5(TSC1):c.401del (p.Leu134fs)
|
|
|
NM_000368.5(TSC1):c.403G>A (p.Val135Met)
|
rs1588350708
|
|
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile)
|
rs1163879822
|
|
NM_000368.5(TSC1):c.416T>A (p.Met139Lys)
|
|
|
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.423A>G (p.Pro141=)
|
rs1846677189
|
|
NM_000368.5(TSC1):c.425T>C (p.Met142Thr)
|
rs886042190
|
|
NM_000368.5(TSC1):c.435G>T (p.Gln145His)
|
rs1195580419
|
|
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn)
|
rs1554821020
|
|
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.447G>A (p.Gln149=)
|
|
|
NM_000368.5(TSC1):c.448C>A (p.His150Asn)
|
|
|
NM_000368.5(TSC1):c.454C>T (p.Leu152Phe)
|
|
|
NM_000368.5(TSC1):c.455T>C (p.Leu152Pro)
|
|
|
NM_000368.5(TSC1):c.457G>T (p.Asp153Tyr)
|
|
|
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile)
|
rs1485129708
|
|
NM_000368.5(TSC1):c.469A>G (p.Ile157Val)
|
rs1846673273
|
|
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys)
|
rs1554819886
|
|
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe)
|
rs774900322
|
|
NM_000368.5(TSC1):c.483G>A (p.Leu161=)
|
|
|
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter)
|
rs1846671628
|
|
NM_000368.5(TSC1):c.485CAT[1] (p.Ser163del)
|
rs1588350366
|
|
NM_000368.5(TSC1):c.486A>T (p.Ser162=)
|
|
|
NM_000368.5(TSC1):c.489A>T (p.Ser163=)
|
rs118203386
|
|
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu)
|
rs118203387
|
|
NM_000368.5(TSC1):c.492G>T (p.Trp164Cys)
|
rs1554819870
|
|
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser)
|
|
|
NM_000368.5(TSC1):c.509-4C>G
|
rs2132162807
|
|
NM_000368.5(TSC1):c.509-5T>G
|
rs1846593189
|
|
NM_000368.5(TSC1):c.512A>C (p.His171Pro)
|
|
|
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.518C>A (p.Ala173Glu)
|
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
NM_000368.5(TSC1):c.51C>A (p.Pro17=)
|
|
|
NM_000368.5(TSC1):c.523G>A (p.Val175Ile)
|
|
|
NM_000368.5(TSC1):c.523G>T (p.Val175Phe)
|
rs1564498330
|
|
NM_000368.5(TSC1):c.526dup (p.Tyr176fs)
|
rs2132161155
|
|
NM_000368.5(TSC1):c.529C>T (p.Leu177Phe)
|
rs2132160788
|
|
NM_000368.5(TSC1):c.52A>G (p.Met18Val)
|
|
|
NM_000368.5(TSC1):c.541C>T (p.His181Tyr)
|
rs1057524690
|
|
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
|
rs397515294
|
|
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.552G>A (p.Val184=)
|
rs118203397
|
|
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.558A>G (p.Ala186=)
|
rs2132158268
|
|
NM_000368.5(TSC1):c.561C>G (p.Leu187=)
|
rs2132158033
|
|
NM_000368.5(TSC1):c.562T>C (p.Phe188Leu)
|
|
|
NM_000368.5(TSC1):c.567T>A (p.His189Gln)
|
|
|
NM_000368.5(TSC1):c.574T>C (p.Tyr192His)
|
rs786202831
|
|
NM_000368.5(TSC1):c.57G>A (p.Leu19=)
|
|
|
NM_000368.5(TSC1):c.585C>T (p.Tyr195=)
|
rs118203407
|
|
NM_000368.5(TSC1):c.58G>A (p.Gly20Ser)
|
rs2132295199
|
|
NM_000368.5(TSC1):c.591C>T (p.Cys197=)
|
rs1588347154
|
|
NM_000368.5(TSC1):c.599T>C (p.Val200Ala)
|
|
|
NM_000368.5(TSC1):c.5C>T (p.Ala2Val)
|
rs1588363746
|
|
NM_000368.5(TSC1):c.60T>G (p.Gly20=)
|
rs1293816362
|
|
NM_000368.5(TSC1):c.611G>A (p.Arg204His)
|
rs397514834
|
|
NM_000368.5(TSC1):c.621C>T (p.Tyr207=)
|
|
|
NM_000368.5(TSC1):c.623G>A (p.Ser208Asn)
|
|
|
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr)
|
rs1264782606
|
|
NM_000368.5(TSC1):c.633A>G (p.Glu211=)
|
rs753550247
|
|
NM_000368.5(TSC1):c.637dup (p.Leu213fs)
|
rs1114167620
|
|
NM_000368.5(TSC1):c.63G>A (p.Val21=)
|
|
|
NM_000368.5(TSC1):c.648T>C (p.Phe216=)
|
|
|
NM_000368.5(TSC1):c.648T>G (p.Phe216Leu)
|
|
|
NM_000368.5(TSC1):c.659T>A (p.Val220Asp)
|
|
|
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.663G>A (p.Lys221=)
|
rs868715706
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.664-4C>G
|
rs2132138750
|
|
NM_000368.5(TSC1):c.664C>A (p.Pro222Thr)
|
|
|
NM_000368.5(TSC1):c.667A>G (p.Met223Val)
|
rs2132138226
|
|
NM_000368.5(TSC1):c.674A>C (p.Glu225Ala)
|
|
|
NM_000368.5(TSC1):c.677A>G (p.His226Arg)
|
|
|
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.692C>T (p.Pro231Leu)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.696A>G (p.Glu232=)
|
rs1588345709
|
|
NM_000368.5(TSC1):c.707G>C (p.Gly236Ala)
|
|
|
NM_000368.5(TSC1):c.726G>C (p.Leu242=)
|
rs2132133780
|
|
NM_000368.5(TSC1):c.729C>T (p.Asp243=)
|
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+1G>T
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+2T>C
|
rs1564497308
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.746G>T (p.Arg249Ile)
|
rs1588327781
|
|
NM_000368.5(TSC1):c.749_751delinsAA (p.Leu250_Glu251delinsTer)
|
|
|
NM_000368.5(TSC1):c.758A>C (p.His253Pro)
|
|
|
NM_000368.5(TSC1):c.759T>C (p.His253=)
|
|
|
NM_000368.5(TSC1):c.761A>T (p.Asp254Val)
|
|
|
NM_000368.5(TSC1):c.765T>G (p.Val255=)
|
rs1588327624
|
|
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.779C>T (p.Ala260Val)
|
rs758617649
|
|
NM_000368.5(TSC1):c.782A>C (p.Lys261Thr)
|
rs371225009
|
|
NM_000368.5(TSC1):c.792G>A (p.Leu264=)
|
rs1257538409
|
|
NM_000368.5(TSC1):c.792G>C (p.Leu264=)
|
|
|
NM_000368.5(TSC1):c.79G>A (p.Ala27Thr)
|
|
|
NM_000368.5(TSC1):c.801A>G (p.Thr267=)
|
rs2132002475
|
|
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp)
|
rs1347033062
|
|
NM_000368.5(TSC1):c.807C>T (p.Ala269=)
|
|
|
NM_000368.5(TSC1):c.812A>G (p.Tyr271Cys)
|
|
|
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer)
|
rs118203451
|
|
NM_000368.5(TSC1):c.816A>G (p.Glu272=)
|
rs2132001195
|
|
NM_000368.5(TSC1):c.818A>T (p.Asp273Val)
|
|
|
NM_000368.5(TSC1):c.81T>A (p.Ala27=)
|
|
|
NM_000368.5(TSC1):c.820G>A (p.Gly274Ser)
|
rs1389310342
|
|
NM_000368.5(TSC1):c.822C>G (p.Gly274=)
|
|
|
NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys)
|
rs1554817636
|
|
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe)
|
rs1846012269
|
|
NM_000368.5(TSC1):c.829G>A (p.Val277Met)
|
|
|
NM_000368.5(TSC1):c.831G>C (p.Val277=)
|
rs1588327162
|
|
NM_000368.5(TSC1):c.840A>C (p.Gln280His)
|
rs1171852730
|
|
NM_000368.5(TSC1):c.840A>T (p.Gln280His)
|
|
|
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.860A>G (p.His287Arg)
|
|
|
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.874G>A (p.Val292Ile)
|
rs1588326825
|
|
NM_000368.5(TSC1):c.875T>C (p.Val292Ala)
|
|
|
NM_000368.5(TSC1):c.876C>G (p.Val292=)
|
rs116756594
|
|
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.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.885C>T (p.Ser295=)
|
|
|
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser)
|
rs750890263
|
|
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
|
|
|
NM_000368.5(TSC1):c.891T>C (p.Tyr297=)
|
rs118203461
|
|
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr)
|
rs1846004547
|
|
NM_000368.5(TSC1):c.893C>G (p.Ala298Gly)
|
|
|
NM_000368.5(TSC1):c.897C>T (p.Asp299=)
|
|
|
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
|
NM_000368.5(TSC1):c.899C>A (p.Thr300Lys)
|
|
|
NM_000368.5(TSC1):c.8A>G (p.Gln3Arg)
|
|
|
NM_000368.5(TSC1):c.901C>G (p.Gln301Glu)
|
|
|
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg)
|
rs1389512342
|
|
NM_000368.5(TSC1):c.902A>T (p.Gln301Leu)
|
|
|
NM_000368.5(TSC1):c.903G>A (p.Gln301=)
|
rs762200890
|
|
NM_000368.5(TSC1):c.903G>T (p.Gln301His)
|
|
|
NM_000368.5(TSC1):c.913+2T>C
|
|
|
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)
|
rs118203468
|
|
NM_000368.5(TSC1):c.914-4T>G
|
rs2131982922
|
|
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.918T>C (p.Cys306=)
|
rs34610255
|
|
NM_000368.5(TSC1):c.920C>T (p.Ala307Val)
|
rs572611259
|
|
NM_000368.5(TSC1):c.921T>C (p.Ala307=)
|
rs397514826
|
|
NM_000368.5(TSC1):c.921T>G (p.Ala307=)
|
|
|
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn)
|
rs1554817432
|
|
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.938C>T (p.Ser313Phe)
|
rs766317920
|
|
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp)
|
rs781059342
|
|
NM_000368.5(TSC1):c.949C>T (p.Leu317=)
|
rs1588324686
|
|
NM_000368.5(TSC1):c.951G>C (p.Leu317=)
|
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser)
|
rs1222555421
|
|
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr)
|
rs1588324568
|
|
NM_000368.5(TSC1):c.968C>T (p.Pro323Leu)
|
rs1588324535
|
|
NM_000368.5(TSC1):c.969A>G (p.Pro323=)
|
rs1418510093
|
|
NM_000368.5(TSC1):c.96C>A (p.Asn32Lys)
|
rs1588363242
|
|
NM_000368.5(TSC1):c.96C>T (p.Asn32=)
|
rs1588363242
|
|
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.97C>T (p.Leu33Phe)
|
rs1847031671
|
|
NM_000368.5(TSC1):c.988_989del (p.Leu330fs)
|
rs118203477
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000368.5(TSC1):c.996C>T (p.Ser332=)
|
rs1588324281
|
|
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser)
|
rs1057520994
|
|