NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_000548.5(TSC2):c.2546-12C>T
|
rs13331451
|
0.21707
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.08017
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
NM_000548.5(TSC2):c.*26G>A
|
rs13332015
|
0.03592
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_000368.4(TSC1):c.*4898G>A
|
rs79220715
|
0.01804
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=)
|
rs45517384
|
0.01015
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)
|
rs1800742
|
0.00823
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_000548.5(TSC2):c.2239C>T (p.Leu747=)
|
rs45517221
|
0.00480
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)
|
rs35118875
|
0.00415
|
NM_000548.5(TSC2):c.848+7G>A
|
rs45442896
|
0.00376
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_000548.5(TSC2):c.-65G>C
|
rs563544506
|
0.00342
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000548.5(TSC2):c.*35G>A
|
rs200025534
|
0.00226
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_000548.5(TSC2):c.*71C>T
|
rs45498900
|
0.00205
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_000548.5(TSC2):c.3815-15G>A
|
rs45480591
|
0.00149
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00122
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00116
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00096
|
NM_000548.5(TSC2):c.5161-9C>T
|
rs45515893
|
0.00094
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00084
|
NM_000548.5(TSC2):c.-72T>A
|
rs543752709
|
0.00083
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00067
|
NM_000548.5(TSC2):c.2742+13C>T
|
rs45517260
|
0.00065
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_000548.5(TSC2):c.2640-13C>T
|
rs201184637
|
0.00052
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000548.5(TSC2):c.975+13C>T
|
rs200564575
|
0.00051
|
NM_000548.5(TSC2):c.1821G>A (p.Ala607=)
|
rs149543046
|
0.00050
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_000548.5(TSC2):c.2073C>T (p.Arg691=)
|
rs45512398
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000548.5(TSC2):c.2296G>A (p.Val766Met)
|
rs150672640
|
0.00041
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00030
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_000548.5(TSC2):c.291C>G (p.Ala97=)
|
rs137933794
|
0.00028
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
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.3770C>T (p.Ala1257Val)
|
rs45466493
|
0.00022
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
NM_000548.5(TSC2):c.1377C>T (p.Gly459=)
|
rs45517170
|
0.00019
|
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.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.2356-15T>A
|
rs189674303
|
0.00016
|
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)
|
rs368923127
|
0.00016
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=)
|
rs182327684
|
0.00016
|
NM_000548.5(TSC2):c.552C>T (p.Val184=)
|
rs199991910
|
0.00016
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000548.5(TSC2):c.1599+10G>A
|
rs376692777
|
0.00012
|
NM_000548.5(TSC2):c.2451C>T (p.Asp817=)
|
rs201442542
|
0.00012
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_000368.5(TSC1):c.*4248C>T
|
rs886063567
|
0.00010
|
NM_000548.5(TSC2):c.*5G>A
|
rs201342697
|
0.00010
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00009
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
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.630G>A (p.Ala210=)
|
rs567756494
|
0.00007
|
NM_000548.5(TSC2):c.*77G>A
|
rs886051799
|
0.00006
|
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=)
|
rs557648435
|
0.00006
|
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp)
|
rs777489742
|
0.00006
|
NM_000548.5(TSC2):c.708C>T (p.Leu236=)
|
rs756121647
|
0.00006
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00005
|
NM_000548.5(TSC2):c.*44T>C
|
rs188991734
|
0.00005
|
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.4849+13G>A
|
rs780953278
|
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.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000548.5(TSC2):c.2049C>T (p.Ser683=)
|
rs569518378
|
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.2967-6C>T
|
rs200746335
|
0.00004
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00004
|
NM_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
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_000368.4(TSC1):c.-242G>T
|
rs571288003
|
0.00003
|
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.1865G>A (p.Arg622Gln)
|
rs45517206
|
0.00003
|
NM_000548.5(TSC2):c.2097+13G>A
|
rs367915255
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
NM_000548.5(TSC2):c.297C>T (p.His99=)
|
rs752498350
|
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.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)
|
rs200929621
|
0.00002
|
NM_000548.5(TSC2):c.270G>A (p.Gln90=)
|
rs779310889
|
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.4930G>A (p.Asp1644Asn)
|
rs137853999
|
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_000548.5(TSC2):c.*4C>T
|
rs368282661
|
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.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.2331T>C (p.His777=)
|
rs139963953
|
0.00001
|
NM_000548.5(TSC2):c.2355+8G>A
|
rs199558375
|
0.00001
|
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)
|
rs779472379
|
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.3487G>T (p.Ala1163Ser)
|
rs560522093
|
0.00001
|
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)
|
rs786202178
|
0.00001
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
0.00001
|
NM_000548.5(TSC2):c.3850C>T (p.Gln1284Ter)
|
rs753308966
|
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.4458C>T (p.Ala1486=)
|
rs761248238
|
0.00001
|
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)
|
rs886051796
|
0.00001
|
NM_000548.5(TSC2):c.5259+15G>A
|
rs373209496
|
0.00001
|
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg)
|
rs770117004
|
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.*2228G>A
|
rs528833042
|
|
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.*2893del
|
rs143549363
|
|
NM_000368.5(TSC1):c.*2893dup
|
rs143549363
|
|
NM_000368.5(TSC1):c.*2897A>G
|
rs886063589
|
|
NM_000368.5(TSC1):c.*289del
|
rs11323835
|
|
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.*4631del
|
rs60000611
|
|
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.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_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000548.5(TSC2):c.*23C>T
|
rs774841226
|
|
NM_000548.5(TSC2):c.*55TAAA[1]
|
rs137854184
|
|
NM_000548.5(TSC2):c.*61_*62del
|
rs36032671
|
|
NM_000548.5(TSC2):c.*86T>G
|
rs915706457
|
|
NM_000548.5(TSC2):c.-29-10G>C
|
rs28537973
|
|
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.138+14C>G
|
rs201204330
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.1600-13C>G
|
rs1800712
|
|
NM_000548.5(TSC2):c.1600-14C>T
|
rs45517185
|
|
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.1869C>T (p.Ala623=)
|
rs111244727
|
|
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.1947-4G>A
|
rs201633455
|
|
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.226C>T (p.His76Tyr)
|
rs574779350
|
|
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.3126G>C (p.Pro1042=)
|
rs36078782
|
|
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.3890C>T (p.Ala1297Val)
|
rs371239156
|
|
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=)
|
rs1811018177
|
|
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)
|
rs201710642
|
|
NM_000548.5(TSC2):c.4493+15T>G
|
rs2090547818
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=)
|
rs45483700
|
|
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.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)
|
rs376017665
|
|
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp)
|
rs2084677815
|
|
NM_000548.5(TSC2):c.848+5G>T
|
rs1370989559
|
|
NM_000548.5(TSC2):c.849-13G>A
|
rs886051787
|
|