NM_000548.5(TSC2):c.2296G>A (p.Val766Met)
|
rs150672640
|
0.00041
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)
|
rs144165984
|
0.00021
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)
|
rs45487691
|
0.00019
|
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)
|
rs45506695
|
0.00019
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)
|
rs368923127
|
0.00016
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)
|
rs145470784
|
0.00013
|
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn)
|
rs751990617
|
0.00013
|
NM_000548.5(TSC2):c.1599+10G>A
|
rs376692777
|
0.00012
|
NM_000368.5(TSC1):c.*4248C>T
|
rs886063567
|
0.00010
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00009
|
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu)
|
rs397515288
|
0.00008
|
NM_000548.5(TSC2):c.4569+12C>T
|
rs45517350
|
0.00008
|
NM_000548.5(TSC2):c.*7G>A
|
rs765016970
|
0.00007
|
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)
|
rs367963898
|
0.00007
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
NM_000548.5(TSC2):c.*77G>A
|
rs886051799
|
0.00006
|
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp)
|
rs777489742
|
0.00006
|
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)
|
rs45517162
|
0.00005
|
NM_000548.5(TSC2):c.4849+12C>T
|
rs45517373
|
0.00005
|
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)
|
rs142085017
|
0.00005
|
NM_000548.5(TSC2):c.-34G>A
|
rs559641280
|
0.00004
|
NM_000548.5(TSC2):c.-82G>T
|
rs1391750751
|
0.00004
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00004
|
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)
|
rs45457694
|
0.00004
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000548.5(TSC2):c.2539C>T (p.Leu847=)
|
rs377300009
|
0.00004
|
NM_000548.5(TSC2):c.2639+10C>T
|
rs137854378
|
0.00004
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00004
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000368.5(TSC1):c.*2949A>T
|
rs886063588
|
0.00003
|
NM_000368.5(TSC1):c.*4845G>T
|
rs886063562
|
0.00003
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)
|
rs45517154
|
0.00003
|
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)
|
rs587778729
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=)
|
rs539927192
|
0.00003
|
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=)
|
rs769562717
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
0.00003
|
NM_000548.5(TSC2):c.1257+8C>A
|
rs767392684
|
0.00002
|
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg)
|
rs775195398
|
0.00002
|
NM_000548.5(TSC2):c.1842C>G (p.Ala614=)
|
rs201575136
|
0.00002
|
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)
|
rs1319342312
|
0.00002
|
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)
|
rs201769220
|
0.00002
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)
|
rs767059758
|
0.00002
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala)
|
rs755461310
|
0.00002
|
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)
|
rs886051794
|
0.00002
|
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)
|
rs377377367
|
0.00002
|
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)
|
rs151140709
|
0.00002
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_000368.4(TSC1):c.-227G>A
|
rs886063629
|
0.00001
|
NM_000368.5(TSC1):c.*1519del
|
rs886063607
|
0.00001
|
NM_000368.5(TSC1):c.*333C>A
|
rs886063618
|
0.00001
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)
|
rs758511419
|
0.00001
|
NM_000548.5(TSC2):c.1361+13C>T
|
rs900870796
|
0.00001
|
NM_000548.5(TSC2):c.1362-9G>A
|
rs763842281
|
0.00001
|
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)
|
rs752953762
|
0.00001
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
NM_000548.5(TSC2):c.1836G>A (p.Leu612=)
|
rs758839898
|
0.00001
|
NM_000548.5(TSC2):c.2077C>T (p.Leu693=)
|
rs1167258871
|
0.00001
|
NM_000548.5(TSC2):c.226-4A>G
|
rs886051786
|
0.00001
|
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile)
|
rs886051790
|
0.00001
|
NM_000548.5(TSC2):c.2355+8G>A
|
rs199558375
|
0.00001
|
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)
|
rs758961134
|
0.00001
|
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)
|
rs549612492
|
0.00001
|
NM_000548.5(TSC2):c.2546-4G>A
|
rs746958032
|
0.00001
|
NM_000548.5(TSC2):c.2838-6C>T
|
rs528706539
|
0.00001
|
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)
|
rs150126331
|
0.00001
|
NM_000548.5(TSC2):c.3397+15C>T
|
rs202246408
|
0.00001
|
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)
|
rs786202178
|
0.00001
|
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala)
|
rs878854104
|
0.00001
|
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)
|
rs769653533
|
0.00001
|
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)
|
rs1057522238
|
0.00001
|
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val)
|
rs757579310
|
0.00001
|
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)
|
rs886051796
|
0.00001
|
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)
|
rs747538587
|
0.00001
|
NM_000548.5(TSC2):c.5259+15G>A
|
rs373209496
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)
|
rs760100924
|
0.00001
|
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)
|
rs774526017
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000548.5(TSC2):c.879A>G (p.Arg293=)
|
rs369222477
|
0.00001
|
NM_000368.5(TSC1):c.*1519C>T
|
rs886063608
|
|
NM_000368.5(TSC1):c.*1541dup
|
rs748099884
|
|
NM_000368.5(TSC1):c.*1612C>A
|
rs886063605
|
|
NM_000368.5(TSC1):c.*1969T>C
|
rs886063604
|
|
NM_000368.5(TSC1):c.*2022G>T
|
rs568052856
|
|
NM_000368.5(TSC1):c.*2213C>A
|
rs539030496
|
|
NM_000368.5(TSC1):c.*2364T>A
|
rs886063602
|
|
NM_000368.5(TSC1):c.*2439C>A
|
rs886063601
|
|
NM_000368.5(TSC1):c.*2475C>A
|
rs886063600
|
|
NM_000368.5(TSC1):c.*2615C>A
|
rs886063598
|
|
NM_000368.5(TSC1):c.*2632A>G
|
rs886063597
|
|
NM_000368.5(TSC1):c.*2644G>T
|
rs886063596
|
|
NM_000368.5(TSC1):c.*2658G>T
|
rs886063594
|
|
NM_000368.5(TSC1):c.*2679T>C
|
rs886063593
|
|
NM_000368.5(TSC1):c.*2691A>T
|
rs886063592
|
|
NM_000368.5(TSC1):c.*2893dup
|
rs143549363
|
|
NM_000368.5(TSC1):c.*2897A>G
|
rs886063589
|
|
NM_000368.5(TSC1):c.*3047C>A
|
rs886063587
|
|
NM_000368.5(TSC1):c.*3239G>T
|
rs886063584
|
|
NM_000368.5(TSC1):c.*3240G>T
|
rs886063583
|
|
NM_000368.5(TSC1):c.*3248_*3250del
|
rs886063582
|
|
NM_000368.5(TSC1):c.*3284C>A
|
rs886063581
|
|
NM_000368.5(TSC1):c.*3285G>T
|
rs886063580
|
|
NM_000368.5(TSC1):c.*3330G>T
|
rs553475307
|
|
NM_000368.5(TSC1):c.*3531G>T
|
rs886063579
|
|
NM_000368.5(TSC1):c.*3543C>A
|
rs886063578
|
|
NM_000368.5(TSC1):c.*3658G>A
|
rs886063577
|
|
NM_000368.5(TSC1):c.*3737C>A
|
rs886063576
|
|
NM_000368.5(TSC1):c.*3924G>T
|
rs886063575
|
|
NM_000368.5(TSC1):c.*3987A>G
|
rs886063574
|
|
NM_000368.5(TSC1):c.*4072G>A
|
rs886063573
|
|
NM_000368.5(TSC1):c.*4159G>T
|
rs886063571
|
|
NM_000368.5(TSC1):c.*4167C>A
|
rs886063570
|
|
NM_000368.5(TSC1):c.*4193A>C
|
rs886063569
|
|
NM_000368.5(TSC1):c.*4233G>T
|
rs886063568
|
|
NM_000368.5(TSC1):c.*4248C>A
|
rs886063567
|
|
NM_000368.5(TSC1):c.*4622G>A
|
rs886063564
|
|
NM_000368.5(TSC1):c.*4631dup
|
rs60000611
|
|
NM_000368.5(TSC1):c.*548C>A
|
rs886063616
|
|
NM_000368.5(TSC1):c.*583C>A
|
rs886063615
|
|
NM_000368.5(TSC1):c.*817G>T
|
rs886063614
|
|
NM_000368.5(TSC1):c.*859G>T
|
rs886063612
|
|
NM_000368.5(TSC1):c.*920C>A
|
rs886063611
|
|
NM_000368.5(TSC1):c.-174A>T
|
rs886063627
|
|
NM_000368.5(TSC1):c.-80-10T>C
|
rs886063625
|
|
NM_000368.5(TSC1):c.108C>T (p.Asp36=)
|
rs886063624
|
|
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)
|
rs1269162063
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTA
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-3del
|
rs886063622
|
|
NM_000368.5(TSC1):c.2626-4_2626-3dup
|
rs1554813638
|
|
NM_000548.5(TSC2):c.*23C>T
|
rs774841226
|
|
NM_000548.5(TSC2):c.*61_*62del
|
rs36032671
|
|
NM_000548.5(TSC2):c.*86T>G
|
rs915706457
|
|
NM_000548.5(TSC2):c.-85G>C
|
rs540716235
|
|
NM_000548.5(TSC2):c.-87A>G
|
rs886051785
|
|
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys)
|
rs1596298442
|
|
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp)
|
rs886051788
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.1600-13C>G
|
rs1800712
|
|
NM_000548.5(TSC2):c.1821G>C (p.Ala607=)
|
rs149543046
|
|
NM_000548.5(TSC2):c.1843T>G (p.Phe615Val)
|
rs1446136662
|
|
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)
|
rs397515081
|
|
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu)
|
rs587778730
|
|
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala)
|
rs878854080
|
|
NM_000548.5(TSC2):c.2119A>G (p.Lys707Glu)
|
rs1596347145
|
|
NM_000548.5(TSC2):c.2203T>G (p.Ser735Ala)
|
rs753059579
|
|
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe)
|
rs886051789
|
|
NM_000548.5(TSC2):c.2520C>T (p.Ala840=)
|
rs147683438
|
|
NM_000548.5(TSC2):c.2545+3G>A
|
rs2088950824
|
|
NM_000548.5(TSC2):c.258G>C (p.Ala86=)
|
rs397514912
|
|
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg)
|
rs886051791
|
|
NM_000548.5(TSC2):c.2838-5G>A
|
rs876660419
|
|
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro)
|
rs886051792
|
|
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)
|
rs1060500961
|
|
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)
|
rs886051793
|
|
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala)
|
rs1310948800
|
|
NM_000548.5(TSC2):c.3832C>G (p.Leu1278Val)
|
rs374146919
|
|
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)
|
rs371239156
|
|
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=)
|
rs1811018177
|
|
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)
|
rs201710642
|
|
NM_000548.5(TSC2):c.4493+15T>G
|
rs2090547818
|
|
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr)
|
rs878854112
|
|
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu)
|
rs760978505
|
|
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly)
|
rs886051797
|
|
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)
|
rs886051798
|
|
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del)
|
rs796053480
|
|
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp)
|
rs2084677815
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NM_000548.5(TSC2):c.848+5G>T
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rs1370989559
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NM_000548.5(TSC2):c.849-13G>A
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rs886051787
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