NM_000368.5(TSC1):c.2392-35T>C
|
rs11243931
|
0.20073
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_000368.5(TSC1):c.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.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.2626-3_2626-2insTT
|
rs760737807
|
0.00242
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000368.5(TSC1):c.106+15A>G
|
rs80258442
|
0.00187
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_000368.5(TSC1):c.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.1998-19T>G
|
rs184408837
|
0.00037
|
NM_000368.5(TSC1):c.2625+19G>A
|
rs200135828
|
0.00037
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000368.5(TSC1):c.737+20A>G
|
rs764271835
|
0.00031
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000368.5(TSC1):c.1264-12T>C
|
rs118203508
|
0.00025
|
NM_000368.5(TSC1):c.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.1333+13C>T
|
rs118203516
|
0.00014
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000368.5(TSC1):c.249C>T (p.Ala83=)
|
rs145783693
|
0.00013
|
NM_000368.5(TSC1):c.2502+18A>C
|
rs200908079
|
0.00013
|
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)
|
rs142954164
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
NM_000368.5(TSC1):c.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.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro)
|
rs118203548
|
0.00008
|
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)
|
rs549467159
|
0.00008
|
NM_000368.5(TSC1):c.851G>A (p.Arg284His)
|
rs151309813
|
0.00008
|
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)
|
rs781312535
|
0.00007
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000368.5(TSC1):c.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.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.618T>C (p.His206=)
|
rs118203415
|
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.1141+10T>C
|
rs367601694
|
0.00004
|
NM_000368.5(TSC1):c.1264-9T>C
|
rs1399728684
|
0.00004
|
NM_000368.5(TSC1):c.1506C>T (p.Gly502=)
|
rs772337076
|
0.00004
|
NM_000368.5(TSC1):c.1974C>T (p.Asp658=)
|
rs118203608
|
0.00004
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)
|
rs149719514
|
0.00004
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)
|
rs759047948
|
0.00004
|
NM_000368.5(TSC1):c.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.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
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.1888A>C (p.Lys630Gln)
|
rs1158059433
|
0.00003
|
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)
|
rs397514863
|
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.3428C>T (p.Pro1143Leu)
|
rs201867031
|
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.1020A>G (p.Glu340=)
|
rs760233114
|
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.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.1848C>T (p.Ala616=)
|
rs752286096
|
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.2303G>A (p.Arg768His)
|
rs1033725987
|
0.00002
|
NM_000368.5(TSC1):c.2424G>A (p.Ala808=)
|
rs200651872
|
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.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.370A>G (p.Thr124Ala)
|
rs745871522
|
0.00002
|
NM_000368.5(TSC1):c.379G>A (p.Val127Ile)
|
rs372215435
|
0.00002
|
NM_000368.5(TSC1):c.542A>T (p.His181Leu)
|
rs397515294
|
0.00002
|
NM_000368.5(TSC1):c.597C>T (p.Phe199=)
|
rs202242304
|
0.00002
|
NM_000368.5(TSC1):c.69C>T (p.Asp23=)
|
rs769282604
|
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.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1096C>G (p.Pro366Ala)
|
rs1041988929
|
0.00001
|
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)
|
rs763915012
|
0.00001
|
NM_000368.5(TSC1):c.1196C>T (p.Pro399Leu)
|
rs761014195
|
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.1232T>A (p.Leu411His)
|
rs140410001
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
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.1369A>C (p.Ser457Arg)
|
rs587778722
|
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.1591G>A (p.Val531Met)
|
rs377279170
|
0.00001
|
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser)
|
rs1330089369
|
0.00001
|
NM_000368.5(TSC1):c.1772C>T (p.Pro591Leu)
|
rs768985094
|
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.1818T>A (p.His606Gln)
|
rs758769193
|
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.2066G>A (p.Arg689His)
|
rs200827913
|
0.00001
|
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)
|
rs776386313
|
0.00001
|
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)
|
rs760208449
|
0.00001
|
NM_000368.5(TSC1):c.2392-16A>G
|
rs758374143
|
0.00001
|
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)
|
rs118203699
|
0.00001
|
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)
|
rs547498792
|
0.00001
|
NM_000368.5(TSC1):c.2604C>T (p.Asn868=)
|
rs147163264
|
0.00001
|
NM_000368.5(TSC1):c.2626-5T>C
|
rs1444272064
|
0.00001
|
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys)
|
rs1449821288
|
0.00001
|
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)
|
rs751362258
|
0.00001
|
NM_000368.5(TSC1):c.2982C>T (p.Asp994=)
|
rs199919348
|
0.00001
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu)
|
rs796053449
|
0.00001
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)
|
rs753263747
|
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.3268A>G (p.Met1090Val)
|
rs776694051
|
0.00001
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)
|
rs118203753
|
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.3386C>T (p.Ala1129Val)
|
rs772233665
|
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.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.376G>A (p.Val126Ile)
|
rs397514843
|
0.00001
|
NM_000368.5(TSC1):c.378C>T (p.Val126=)
|
rs373173550
|
0.00001
|
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)
|
rs777484049
|
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.555C>T (p.Tyr185=)
|
rs118203398
|
0.00001
|
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)
|
rs118203450
|
0.00001
|
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg)
|
rs371225009
|
0.00001
|
NM_000368.5(TSC1):c.830T>C (p.Val277Ala)
|
rs200749357
|
0.00001
|
NM_000368.5(TSC1):c.859C>T (p.His287Tyr)
|
rs1278022127
|
0.00001
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)
|
rs370916731
|
0.00001
|
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser)
|
|
|
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)
|
rs796053447
|
|
NM_000368.5(TSC1):c.106+10del
|
|
|
NM_000368.5(TSC1):c.1333+6del
|
rs1060503212
|
|
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu)
|
rs946491568
|
|
NM_000368.5(TSC1):c.1503A>C (p.Gly501=)
|
rs201810746
|
|
NM_000368.5(TSC1):c.176A>T (p.His59Leu)
|
rs757837986
|
|
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)
|
rs1429666367
|
|
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln)
|
rs768985094
|
|
NM_000368.5(TSC1):c.211-11dup
|
rs397514775
|
|
NM_000368.5(TSC1):c.2187G>A (p.Leu729=)
|
|
|
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.2431C>G (p.Arg811Gly)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2503-7del
|
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-6T>C
|
|
|
NM_000368.5(TSC1):c.2626-6_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu)
|
rs1554812917
|
|
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)
|
rs533565295
|
|
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[9] (p.Ser1041_Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)
|
rs747162992
|
|
NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp)
|
rs118203751
|
|
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn)
|
rs1060503226
|
|
NM_000368.5(TSC1):c.435G>T (p.Gln145His)
|
rs1195580419
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)
|
rs940292214
|
|
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.737+13G>A
|
rs1057522693
|
|
NM_000368.5(TSC1):c.913+8G>C
|
rs763784439
|
|
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.920C>T (p.Ala307Val)
|
rs572611259
|
|
NM_000368.5(TSC1):c.967C>A (p.Pro323Thr)
|
rs781189978
|
|
NM_000368.5(TSC1):c.973C>G (p.Gln325Glu)
|
rs118203474
|
|