NM_000368.5(TSC1):c.2626-4T>C
|
rs777386691
|
0.00029
|
NM_000368.5(TSC1):c.1333+14G>A
|
rs371733518
|
0.00016
|
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala)
|
rs893232039
|
0.00012
|
NM_000368.5(TSC1):c.210+18A>G
|
rs118203349
|
0.00011
|
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)
|
rs148931779
|
0.00010
|
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)
|
rs765695557
|
0.00008
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
NM_000368.5(TSC1):c.1302A>G (p.Arg434=)
|
rs907840461
|
0.00007
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
NM_000368.5(TSC1):c.2391+14C>T
|
rs757480492
|
0.00005
|
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)
|
rs200514807
|
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.73G>A (p.Val25Met)
|
rs1230244328
|
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.1263+15G>A
|
rs765809001
|
0.00004
|
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
NM_000368.5(TSC1):c.1884A>G (p.Leu628=)
|
rs1038140620
|
0.00004
|
NM_000368.5(TSC1):c.211-18G>C
|
rs751712867
|
0.00004
|
NM_000368.5(TSC1):c.2209-18A>C
|
rs754189843
|
0.00004
|
NM_000368.5(TSC1):c.2325C>T (p.Leu775=)
|
rs1005558276
|
0.00004
|
NM_000368.5(TSC1):c.738-20A>G
|
rs397514824
|
0.00004
|
NM_000368.5(TSC1):c.114C>G (p.Gly38=)
|
rs776158461
|
0.00003
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
NM_000368.5(TSC1):c.1334-16C>T
|
rs373774544
|
0.00003
|
NM_000368.5(TSC1):c.1344T>G (p.Pro448=)
|
rs530908428
|
0.00003
|
NM_000368.5(TSC1):c.1635T>C (p.Pro545=)
|
rs372284519
|
0.00003
|
NM_000368.5(TSC1):c.1878G>A (p.Glu626=)
|
rs753424167
|
0.00003
|
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)
|
rs939275328
|
0.00003
|
NM_000368.5(TSC1):c.1997+18T>A
|
rs750338319
|
0.00003
|
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)
|
rs1336228562
|
0.00003
|
NM_000368.5(TSC1):c.2503-15A>G
|
rs752540347
|
0.00003
|
NM_000368.5(TSC1):c.2626-4_2626-3insTC
|
rs1554813651
|
0.00003
|
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=)
|
rs761673589
|
0.00003
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
NM_000368.5(TSC1):c.762T>C (p.Asp254=)
|
rs780005416
|
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.1030-14T>A
|
rs180810228
|
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.1290A>G (p.Pro430=)
|
rs759914505
|
0.00002
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
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.1881G>A (p.Leu627=)
|
rs766204646
|
0.00002
|
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile)
|
rs779584449
|
0.00002
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
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.2503-20T>G
|
rs539758749
|
0.00002
|
NM_000368.5(TSC1):c.251C>A (p.Ala84Asp)
|
rs761717715
|
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.2976-14C>T
|
rs368652971
|
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.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.364-7C>T
|
rs775465260
|
0.00002
|
NM_000368.5(TSC1):c.375C>T (p.Asp125=)
|
rs560863078
|
0.00002
|
NM_000368.5(TSC1):c.389C>T (p.Thr130Ile)
|
rs779340088
|
0.00002
|
NM_000368.5(TSC1):c.509-10C>T
|
rs780670013
|
0.00002
|
NM_000368.5(TSC1):c.509-13G>A
|
rs746269100
|
0.00002
|
NM_000368.5(TSC1):c.531C>T (p.Leu177=)
|
rs752615412
|
0.00002
|
NM_000368.5(TSC1):c.569G>A (p.Arg190His)
|
rs118203402
|
0.00002
|
NM_000368.5(TSC1):c.720T>G (p.His240Gln)
|
rs779872953
|
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.1029+12A>G
|
rs1333680936
|
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.107-8T>C
|
rs763234027
|
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.1099C>G (p.Pro367Ala)
|
rs1412914051
|
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.1141+17T>C
|
rs1335504392
|
0.00001
|
NM_000368.5(TSC1):c.1142-17C>G
|
rs1845909117
|
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.1200C>G (p.Leu400=)
|
rs767514820
|
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.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.1253C>A (p.Pro418His)
|
rs997339959
|
0.00001
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1263+10A>G
|
rs1260305500
|
0.00001
|
NM_000368.5(TSC1):c.1263+14C>T
|
rs1240806849
|
0.00001
|
NM_000368.5(TSC1):c.1263+6_1263+8dup
|
rs751182565
|
0.00001
|
NM_000368.5(TSC1):c.1263+9C>T
|
rs761837376
|
0.00001
|
NM_000368.5(TSC1):c.1264-10del
|
rs753168838
|
0.00001
|
NM_000368.5(TSC1):c.1305A>G (p.Gln435=)
|
rs1334781311
|
0.00001
|
NM_000368.5(TSC1):c.1333+19T>C
|
rs1292520108
|
0.00001
|
NM_000368.5(TSC1):c.1333+7T>G
|
rs1588313945
|
0.00001
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
NM_000368.5(TSC1):c.1418T>C (p.Ile473Thr)
|
rs185159716
|
0.00001
|
NM_000368.5(TSC1):c.1438+10G>A
|
rs1845690652
|
0.00001
|
NM_000368.5(TSC1):c.1438+13G>A
|
rs1478759489
|
0.00001
|
NM_000368.5(TSC1):c.1438+19C>A
|
rs778924863
|
0.00001
|
NM_000368.5(TSC1):c.1438+20T>C
|
rs1406922569
|
0.00001
|
NM_000368.5(TSC1):c.1439-10T>A
|
rs1060504852
|
0.00001
|
NM_000368.5(TSC1):c.1539A>G (p.Pro513=)
|
rs755055358
|
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.1571C>T (p.Ser524Phe)
|
rs1276296733
|
0.00001
|
NM_000368.5(TSC1):c.1590C>T (p.Ser530=)
|
rs762424091
|
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.1597C>A (p.Pro533Thr)
|
rs1331420425
|
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.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.1765C>T (p.Pro589Ser)
|
rs1299279813
|
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.1809G>A (p.Pro603=)
|
rs112434645
|
0.00001
|
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)
|
rs1343881428
|
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.1997+16A>G
|
rs755582593
|
0.00001
|
NM_000368.5(TSC1):c.1998-4C>T
|
rs1179883422
|
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.2033A>T (p.His678Leu)
|
rs745413532
|
0.00001
|
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg)
|
rs757322533
|
0.00001
|
NM_000368.5(TSC1):c.2041+16T>G
|
rs754045538
|
0.00001
|
NM_000368.5(TSC1):c.2048C>G (p.Pro683Arg)
|
rs1413960643
|
0.00001
|
NM_000368.5(TSC1):c.2064C>T (p.Ile688=)
|
rs878853963
|
0.00001
|
NM_000368.5(TSC1):c.2085G>A (p.Leu695=)
|
rs767518902
|
0.00001
|
NM_000368.5(TSC1):c.2092C>T (p.Leu698=)
|
rs551954460
|
0.00001
|
NM_000368.5(TSC1):c.210+13A>G
|
rs759235039
|
0.00001
|
NM_000368.5(TSC1):c.210+17C>T
|
rs1432418711
|
0.00001
|
NM_000368.5(TSC1):c.210+9T>C
|
rs1173791389
|
0.00001
|
NM_000368.5(TSC1):c.2109C>T (p.Leu703=)
|
rs1440846632
|
0.00001
|
NM_000368.5(TSC1):c.211-11T>C
|
rs1258774658
|
0.00001
|
NM_000368.5(TSC1):c.211-15C>G
|
rs1459098612
|
0.00001
|
NM_000368.5(TSC1):c.211-8A>G
|
rs753082880
|
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.2208+7A>G
|
rs777732621
|
0.00001
|
NM_000368.5(TSC1):c.2209-14C>T
|
rs1554815062
|
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.22G>A (p.Gly8Arg)
|
rs773784532
|
0.00001
|
NM_000368.5(TSC1):c.2307C>T (p.Asp769=)
|
rs876658671
|
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.2391+17C>T
|
rs572485175
|
0.00001
|
NM_000368.5(TSC1):c.2392-13T>C
|
rs779536336
|
0.00001
|
NM_000368.5(TSC1):c.2392-14G>A
|
rs1057524717
|
0.00001
|
NM_000368.5(TSC1):c.2392-20G>T
|
rs1181323344
|
0.00001
|
NM_000368.5(TSC1):c.2394G>A (p.Thr798=)
|
rs1060504860
|
0.00001
|
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)
|
rs751128287
|
0.00001
|
NM_000368.5(TSC1):c.2503-13G>A
|
rs1197465592
|
0.00001
|
NM_000368.5(TSC1):c.2503-20T>C
|
rs539758749
|
0.00001
|
NM_000368.5(TSC1):c.2503-4T>G
|
rs772414581
|
0.00001
|
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)
|
rs749414404
|
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.2614G>C (p.Asp872His)
|
rs746607455
|
0.00001
|
NM_000368.5(TSC1):c.2625+14C>T
|
rs757876250
|
0.00001
|
NM_000368.5(TSC1):c.2625+15G>A
|
rs565234395
|
0.00001
|
NM_000368.5(TSC1):c.2625+17G>A
|
rs1207319302
|
0.00001
|
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr)
|
rs754457018
|
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.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.2814-9A>G
|
rs878853965
|
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.289A>G (p.Ile97Val)
|
rs138541569
|
0.00001
|
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe)
|
rs1399717425
|
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.2975+6A>T
|
rs1060503220
|
0.00001
|
NM_000368.5(TSC1):c.2976-16C>T
|
rs759106092
|
0.00001
|
NM_000368.5(TSC1):c.2976-18T>C
|
rs397514866
|
0.00001
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)
|
rs1242948205
|
0.00001
|
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)
|
rs1313165721
|
0.00001
|
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)
|
rs375394001
|
0.00001
|
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=)
|
rs1289954163
|
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.3181A>G (p.Ser1061Gly)
|
rs1203493016
|
0.00001
|
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)
|
rs755396992
|
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.3289C>T (p.Arg1097Cys)
|
rs779599439
|
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.3309G>A (p.Gln1103=)
|
rs1474184918
|
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.3347G>A (p.Ser1116Asn)
|
rs764140399
|
0.00001
|
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)
|
rs762641110
|
0.00001
|
NM_000368.5(TSC1):c.3381G>A (p.Val1127=)
|
rs773586317
|
0.00001
|
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)
|
rs1249897804
|
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>C (p.Asp1146His)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.3475A>T (p.Thr1159Ser)
|
rs1216169846
|
0.00001
|
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)
|
rs749746550
|
0.00001
|
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser)
|
rs747251435
|
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.45C>T (p.Asp15=)
|
rs1457262106
|
0.00001
|
NM_000368.5(TSC1):c.508+14C>T
|
rs144270749
|
0.00001
|
NM_000368.5(TSC1):c.508+17A>G
|
rs763034091
|
0.00001
|
NM_000368.5(TSC1):c.508+18T>C
|
rs1057522667
|
0.00001
|
NM_000368.5(TSC1):c.509-16C>T
|
rs1316888340
|
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.51C>G (p.Pro17=)
|
rs768175095
|
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.593A>G (p.Asn198Ser)
|
rs577983115
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
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.663+17T>G
|
rs1564497799
|
0.00001
|
NM_000368.5(TSC1):c.663+8G>A
|
rs1288691986
|
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.737+6G>A
|
rs567909130
|
0.00001
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
NM_000368.5(TSC1):c.771C>T (p.Ile257=)
|
rs1060504854
|
0.00001
|
NM_000368.5(TSC1):c.774G>A (p.Glu258=)
|
rs1554817678
|
0.00001
|
NM_000368.5(TSC1):c.804A>G (p.Glu268=)
|
rs753895570
|
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.826T>C (p.Ser276Pro)
|
rs774009225
|
0.00001
|
NM_000368.5(TSC1):c.863G>A (p.Arg288His)
|
rs1424366444
|
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.884G>C (p.Ser295Thr)
|
rs1415705359
|
0.00001
|
NM_000368.5(TSC1):c.903G>C (p.Gln301His)
|
rs762200890
|
0.00001
|
NM_000368.5(TSC1):c.943T>A (p.Ser315Thr)
|
rs185815387
|
0.00001
|
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys)
|
rs1332978347
|
0.00001
|
NM_000368.5(TSC1):c.960A>G (p.Leu320=)
|
rs770183315
|
0.00001
|
NC_000009.11:g.135773000_135773001insCA
|
rs1554813651
|
|
NM_000368.5(TSC1):c.1002G>C (p.Ser334=)
|
rs200820603
|
|
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.1008G>A (p.Arg336=)
|
rs2131974677
|
|
NM_000368.5(TSC1):c.1008G>T (p.Arg336=)
|
rs2131974677
|
|
NM_000368.5(TSC1):c.1009C>T (p.Leu337=)
|
rs1845954330
|
|
NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser)
|
rs570809282
|
|
NM_000368.5(TSC1):c.1017T>C (p.Thr339=)
|
|
|
NM_000368.5(TSC1):c.1023A>G (p.Pro341=)
|
rs2131973361
|
|
NM_000368.5(TSC1):c.1026A>C (p.Pro342=)
|
rs1588324071
|
|
NM_000368.5(TSC1):c.1026A>G (p.Pro342=)
|
rs1588324071
|
|
NM_000368.5(TSC1):c.1029+10C>T
|
rs1222482776
|
|
NM_000368.5(TSC1):c.1029+14T>C
|
|
|
NM_000368.5(TSC1):c.1029+14T>G
|
|
|
NM_000368.5(TSC1):c.1029+15A>G
|
|
|
NM_000368.5(TSC1):c.1029+16G>A
|
|
|
NM_000368.5(TSC1):c.1029+17T>C
|
rs2131972072
|
|
NM_000368.5(TSC1):c.1029+19T>C
|
rs2131971991
|
|
NM_000368.5(TSC1):c.1029+8G>A
|
rs1036865129
|
|
NM_000368.5(TSC1):c.1030-17C>A
|
rs1432784303
|
|
NM_000368.5(TSC1):c.1030-18A>G
|
|
|
NM_000368.5(TSC1):c.1030-19T>C
|
|
|
NM_000368.5(TSC1):c.1030-20G>A
|
|
|
NM_000368.5(TSC1):c.1030-20G>T
|
rs2131966081
|
|
NM_000368.5(TSC1):c.1030-4C>T
|
|
|
NM_000368.5(TSC1):c.1030-5C>T
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1030-8C>T
|
rs2131965605
|
|
NM_000368.5(TSC1):c.1032T>A (p.Ala344=)
|
|
|
NM_000368.5(TSC1):c.1032T>C (p.Ala344=)
|
rs2131965075
|
|
NM_000368.5(TSC1):c.106+12A>G
|
|
|
NM_000368.5(TSC1):c.106+12A>T
|
|
|
NM_000368.5(TSC1):c.106+13A>C
|
|
|
NM_000368.5(TSC1):c.106+16T>G
|
|
|
NM_000368.5(TSC1):c.106+17C>A
|
|
|
NM_000368.5(TSC1):c.106+18C>A
|
|
|
NM_000368.5(TSC1):c.106+9A>C
|
rs1554820969
|
|
NM_000368.5(TSC1):c.106+9A>G
|
rs1554820969
|
|
NM_000368.5(TSC1):c.107-12T>G
|
|
|
NM_000368.5(TSC1):c.107-13T>C
|
|
|
NM_000368.5(TSC1):c.107-14T>G
|
|
|
NM_000368.5(TSC1):c.107-16C>T
|
|
|
NM_000368.5(TSC1):c.107-19T>C
|
rs1284557941
|
|
NM_000368.5(TSC1):c.107-20T>A
|
rs2132272238
|
|
NM_000368.5(TSC1):c.107-20T>C
|
|
|
NM_000368.5(TSC1):c.107-4T>A
|
|
|
NM_000368.5(TSC1):c.107-6A>G
|
|
|
NM_000368.5(TSC1):c.107-7G>A
|
rs775150962
|
|
NM_000368.5(TSC1):c.107-7_107-3dup
|
rs1588359972
|
|
NM_000368.5(TSC1):c.1089A>G (p.Gly363=)
|
rs2131960560
|
|
NM_000368.5(TSC1):c.1095C>T (p.Val365=)
|
rs2131960043
|
|
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser)
|
rs1309560054
|
|
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.1110A>C (p.Ser370=)
|
rs371648887
|
|
NM_000368.5(TSC1):c.1113C>A (p.His371Gln)
|
rs771217333
|
|
NM_000368.5(TSC1):c.1119C>T (p.Tyr373=)
|
|
|
NM_000368.5(TSC1):c.1128C>G (p.Val376=)
|
rs1419093686
|
|
NM_000368.5(TSC1):c.1137A>T (p.Thr379=)
|
rs2131956465
|
|
NM_000368.5(TSC1):c.1141+11C>A
|
|
|
NM_000368.5(TSC1):c.1141+12_1141+13insG
|
|
|
NM_000368.5(TSC1):c.1141+14A>G
|
|
|
NM_000368.5(TSC1):c.1141+15_1141+23del
|
|
|
NM_000368.5(TSC1):c.1141+16G>A
|
rs2131955589
|
|
NM_000368.5(TSC1):c.1141+16G>T
|
|
|
NM_000368.5(TSC1):c.1141+18T>G
|
|
|
NM_000368.5(TSC1):c.1141+19G>C
|
rs772553802
|
|
NM_000368.5(TSC1):c.1141+9G>A
|
|
|
NM_000368.5(TSC1):c.1141+9G>T
|
rs2131955840
|
|
NM_000368.5(TSC1):c.1142-11T>C
|
|
|
NM_000368.5(TSC1):c.1142-12C>A
|
rs1845908709
|
|
NM_000368.5(TSC1):c.1142-16del
|
|
|
NM_000368.5(TSC1):c.1142-17C>T
|
rs1845909117
|
|
NM_000368.5(TSC1):c.1142-9G>A
|
rs1554817169
|
|
NM_000368.5(TSC1):c.1142-9G>C
|
rs1554817169
|
|
NM_000368.5(TSC1):c.1143A>G (p.Ala381=)
|
rs2131948061
|
|
NM_000368.5(TSC1):c.114C>T (p.Gly38=)
|
|
|
NM_000368.5(TSC1):c.1160C>T (p.Pro387Leu)
|
|
|
NM_000368.5(TSC1):c.1161T>C (p.Pro387=)
|
|
|
NM_000368.5(TSC1):c.1167A>C (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.1167A>G (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.1167A>T (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.116C>G (p.Pro39Arg)
|
rs770831962
|
|
NM_000368.5(TSC1):c.1173A>G (p.Pro391=)
|
rs2131945460
|
|
NM_000368.5(TSC1):c.1179C>G (p.Thr393=)
|
|
|
NM_000368.5(TSC1):c.1179C>T (p.Thr393=)
|
rs2131944935
|
|
NM_000368.5(TSC1):c.1194C>G (p.Ala398=)
|
rs1060504861
|
|
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.1197A>T (p.Pro399=)
|
rs2131943425
|
|
NM_000368.5(TSC1):c.1206T>C (p.His402=)
|
rs1845902050
|
|
NM_000368.5(TSC1):c.1209G>C (p.Ser403=)
|
|
|
NM_000368.5(TSC1):c.1209G>T (p.Ser403=)
|
rs141184479
|
|
NM_000368.5(TSC1):c.1212T>C (p.Asp404=)
|
rs2131941843
|
|
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.1230A>C (p.Ser410=)
|
rs2131940277
|
|
NM_000368.5(TSC1):c.1236C>T (p.Pro412=)
|
rs1588321355
|
|
NM_000368.5(TSC1):c.1245A>G (p.Thr415=)
|
rs2131939065
|
|
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)
|
rs77464996
|
|
NM_000368.5(TSC1):c.1255C>G (p.Pro419Ala)
|
rs765145057
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1257C>A (p.Pro419=)
|
rs369642207
|
|
NM_000368.5(TSC1):c.1257C>T (p.Pro419=)
|
rs369642207
|
|
NM_000368.5(TSC1):c.1263+17C>T
|
|
|
NM_000368.5(TSC1):c.1263+18T>C
|
|
|
NM_000368.5(TSC1):c.1263+7T>C
|
|
|
NM_000368.5(TSC1):c.1263+8C>A
|
|
|
NM_000368.5(TSC1):c.1263+8C>T
|
|
|
NM_000368.5(TSC1):c.1264-10A>G
|
rs994736836
|
|
NM_000368.5(TSC1):c.1264-13C>A
|
|
|
NM_000368.5(TSC1):c.1264-16A>T
|
|
|
NM_000368.5(TSC1):c.1264-17G>T
|
rs1845730385
|
|
NM_000368.5(TSC1):c.1264-6T>C
|
rs370778877
|
|
NM_000368.5(TSC1):c.1264-8C>T
|
|
|
NM_000368.5(TSC1):c.1269G>A (p.Glu423=)
|
rs1272450087
|
|
NM_000368.5(TSC1):c.126A>G (p.Val42=)
|
|
|
NM_000368.5(TSC1):c.1270A>C (p.Arg424=)
|
rs1845728736
|
|
NM_000368.5(TSC1):c.1290A>T (p.Pro430=)
|
|
|
NM_000368.5(TSC1):c.1296A>C (p.Leu432=)
|
rs1554816406
|
|
NM_000368.5(TSC1):c.1299C>T (p.His433=)
|
|
|
NM_000368.5(TSC1):c.129C>T (p.Asn43=)
|
rs2132270030
|
|
NM_000368.5(TSC1):c.12A>G (p.Gln4=)
|
rs1588363707
|
|
NM_000368.5(TSC1):c.1317G>T (p.Leu439=)
|
|
|
NM_000368.5(TSC1):c.1323C>T (p.Asp441=)
|
rs2131879178
|
|
NM_000368.5(TSC1):c.1329A>G (p.Gly443=)
|
|
|
NM_000368.5(TSC1):c.1329A>T (p.Gly443=)
|
|
|
NM_000368.5(TSC1):c.132C>T (p.Thr44=)
|
rs2132269698
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
NM_000368.5(TSC1):c.1333+12G>A
|
|
|
NM_000368.5(TSC1):c.1333+14G>T
|
|
|
NM_000368.5(TSC1):c.1333+20A>G
|
rs755910753
|
|
NM_000368.5(TSC1):c.1333+7T>A
|
rs1588313945
|
|
NM_000368.5(TSC1):c.1333+9T>A
|
rs747629498
|
|
NM_000368.5(TSC1):c.1333+9T>C
|
rs747629498
|
|
NM_000368.5(TSC1):c.1334-14_1334-13del
|
rs2131869840
|
|
NM_000368.5(TSC1):c.1334-19T>G
|
|
|
NM_000368.5(TSC1):c.1334-20T>C
|
rs1373490108
|
|
NM_000368.5(TSC1):c.1338G>A (p.Glu446=)
|
rs1410493156
|
|
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu)
|
rs772868048
|
|
NM_000368.5(TSC1):c.1344T>C (p.Pro448=)
|
rs530908428
|
|
NM_000368.5(TSC1):c.1347C>A (p.Gly449=)
|
rs1588312954
|
|
NM_000368.5(TSC1):c.1347C>T (p.Gly449=)
|
|
|
NM_000368.5(TSC1):c.1350C>T (p.Ser450=)
|
rs773780814
|
|
NM_000368.5(TSC1):c.1359T>C (p.Ser453=)
|
rs1468470312
|
|
NM_000368.5(TSC1):c.1368A>G (p.Leu456=)
|
rs397514856
|
|
NM_000368.5(TSC1):c.1383G>A (p.Gly461=)
|
|
|
NM_000368.5(TSC1):c.1392T>C (p.Gly464=)
|
rs1588312747
|
|
NM_000368.5(TSC1):c.1396C>T (p.Leu466=)
|
rs2131864374
|
|
NM_000368.5(TSC1):c.1404T>C (p.Ser468=)
|
|
|
NM_000368.5(TSC1):c.1407A>G (p.Glu469=)
|
rs1272855447
|
|
NM_000368.5(TSC1):c.1410A>G (p.Glu470=)
|
rs2131863384
|
|
NM_000368.5(TSC1):c.1413T>C (p.Asp471=)
|
rs1588312706
|
|
NM_000368.5(TSC1):c.1431A>G (p.Lys477=)
|
rs2131862006
|
|
NM_000368.5(TSC1):c.1438+12G>A
|
rs1845690448
|
|
NM_000368.5(TSC1):c.1438+14G>A
|
|
|
NM_000368.5(TSC1):c.1438+14G>C
|
|
|
NM_000368.5(TSC1):c.1438+14G>T
|
|
|
NM_000368.5(TSC1):c.1438+14del
|
rs2131860823
|
|
NM_000368.5(TSC1):c.1438+19C>T
|
|
|
NM_000368.5(TSC1):c.1438+8A>G
|
rs1588312550
|
|
NM_000368.5(TSC1):c.1438+9T>C
|
|
|
NM_000368.5(TSC1):c.1439-10T>C
|
|
|
NM_000368.5(TSC1):c.1439-10_1439-3del
|
rs753878222
|
|
NM_000368.5(TSC1):c.1439-11C>T
|
|
|
NM_000368.5(TSC1):c.1439-13del
|
rs2131851882
|
|
NM_000368.5(TSC1):c.1439-15C>G
|
|
|
NM_000368.5(TSC1):c.1439-15CT[2]
|
|
|
NM_000368.5(TSC1):c.1439-20G>C
|
|
|
NM_000368.5(TSC1):c.1439-20_1439-9del
|
rs1064792996
|
|
NM_000368.5(TSC1):c.1439-5C>T
|
rs2131851498
|
|
NM_000368.5(TSC1):c.1439-7C>T
|
rs1588311354
|
|
NM_000368.5(TSC1):c.1442C>A (p.Ala481Glu)
|
|
|
NM_000368.5(TSC1):c.1443A>C (p.Ala481=)
|
rs1554816081
|
|
NM_000368.5(TSC1):c.1443A>G (p.Ala481=)
|
rs1554816081
|
|
NM_000368.5(TSC1):c.1461T>C (p.Ser487=)
|
rs2131849603
|
|
NM_000368.5(TSC1):c.1464G>A (p.Glu488=)
|
rs1588311193
|
|
NM_000368.5(TSC1):c.1467C>T (p.Ile489=)
|
rs2131849203
|
|
NM_000368.5(TSC1):c.1470C>A (p.Thr490=)
|
rs2131848951
|
|
NM_000368.5(TSC1):c.1473A>C (p.Thr491=)
|
rs1588311152
|
|
NM_000368.5(TSC1):c.1473A>G (p.Thr491=)
|
rs1588311152
|
|
NM_000368.5(TSC1):c.1476A>C (p.Ala492=)
|
rs1554816067
|
|
NM_000368.5(TSC1):c.1479G>C (p.Glu493Asp)
|
|
|
NM_000368.5(TSC1):c.147C>T (p.Tyr49=)
|
rs2132268804
|
|
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
|
|
|
NM_000368.5(TSC1):c.1488T>C (p.Pro496=)
|
rs2131847678
|
|
NM_000368.5(TSC1):c.1491G>A (p.Val497=)
|
rs1554816056
|
|
NM_000368.5(TSC1):c.1497T>G (p.Pro499=)
|
rs1588311053
|
|
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
|
|
|
NM_000368.5(TSC1):c.1518C>A (p.Pro506=)
|
|
|
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.151G>C (p.Glu51Gln)
|
|
|
NM_000368.5(TSC1):c.1527A>C (p.Arg509=)
|
rs2131844667
|
|
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.1536C>T (p.Leu512=)
|
rs1264512400
|
|
NM_000368.5(TSC1):c.1539A>T (p.Pro513=)
|
|
|
NM_000368.5(TSC1):c.1542T>G (p.Gly514=)
|
rs2131843378
|
|
NM_000368.5(TSC1):c.1548G>A (p.Gln516=)
|
|
|
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.1557C>G (p.Thr519=)
|
rs2131842231
|
|
NM_000368.5(TSC1):c.1563G>A (p.Ser521=)
|
rs1554816005
|
|
NM_000368.5(TSC1):c.1563G>C (p.Ser521=)
|
rs1554816005
|
|
NM_000368.5(TSC1):c.1569C>T (p.Ala523=)
|
rs1234835402
|
|
NM_000368.5(TSC1):c.156C>A (p.Thr52=)
|
rs1564503304
|
|
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.1572C>G (p.Ser524=)
|
rs397514810
|
|
NM_000368.5(TSC1):c.1581G>A (p.Gln527=)
|
rs1554815989
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
NM_000368.5(TSC1):c.1584C>G (p.Gly528=)
|
|
|
NM_000368.5(TSC1):c.159C>T (p.Ser53=)
|
rs756335238
|
|
NM_000368.5(TSC1):c.15A>G (p.Ala5=)
|
|
|
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla)
|
rs1554815972
|
|
NM_000368.5(TSC1):c.1611C>T (p.His537=)
|
rs898271020
|
|
NM_000368.5(TSC1):c.1614C>T (p.Ser538=)
|
rs878853961
|
|
NM_000368.5(TSC1):c.1617C>T (p.Ser539=)
|
rs1554815969
|
|
NM_000368.5(TSC1):c.161C>G (p.Ser54Cys)
|
|
|
NM_000368.5(TSC1):c.1629T>C (p.Leu543=)
|
|
|
NM_000368.5(TSC1):c.1632G>T (p.Gly544=)
|
rs1588310249
|
|
NM_000368.5(TSC1):c.1634C>T (p.Pro545Leu)
|
|
|
NM_000368.5(TSC1):c.1638C>T (p.Asp546=)
|
rs2131836226
|
|
NM_000368.5(TSC1):c.1641A>G (p.Thr547=)
|
|
|
NM_000368.5(TSC1):c.1647G>A (p.Lys549=)
|
rs2131835538
|
|
NM_000368.5(TSC1):c.1662C>T (p.Pro554=)
|
|
|
NM_000368.5(TSC1):c.1668C>T (p.Asp556=)
|
rs1845637294
|
|
NM_000368.5(TSC1):c.1669C>T (p.Leu557=)
|
rs118203555
|
|
NM_000368.5(TSC1):c.1671G>T (p.Leu557=)
|
rs2131833685
|
|
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp)
|
rs1395737285
|
|
NM_000368.5(TSC1):c.1686T>C (p.Ala562=)
|
|
|
NM_000368.5(TSC1):c.1695C>T (p.Ser565=)
|
rs1845634405
|
|
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.1710G>A (p.Arg570=)
|
rs777386797
|
|
NM_000368.5(TSC1):c.1713A>G (p.Glu571=)
|
rs1588309781
|
|
NM_000368.5(TSC1):c.1719G>A (p.Gln573=)
|
rs1588309743
|
|
NM_000368.5(TSC1):c.171A>G (p.Ala57=)
|
rs1060504853
|
|
NM_000368.5(TSC1):c.171A>T (p.Ala57=)
|
|
|
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.172T>C (p.Leu58=)
|
rs1564503254
|
|
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
|
rs1251871091
|
|
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.1746T>G (p.Thr582=)
|
rs2131827290
|
|
NM_000368.5(TSC1):c.1749C>T (p.Pro583=)
|
rs876659216
|
|
NM_000368.5(TSC1):c.174G>A (p.Leu58=)
|
|
|
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)
|
rs786203799
|
|
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser)
|
rs766367103
|
|
NM_000368.5(TSC1):c.1756T>C (p.Cys586Arg)
|
rs760356610
|
|
NM_000368.5(TSC1):c.1758T>C (p.Cys586=)
|
rs1301051974
|
|
NM_000368.5(TSC1):c.1773G>C (p.Pro591=)
|
|
|
NM_000368.5(TSC1):c.1773G>T (p.Pro591=)
|
rs146578402
|
|
NM_000368.5(TSC1):c.1782G>A (p.Val594=)
|
rs1588309238
|
|
NM_000368.5(TSC1):c.1785C>A (p.Gly595=)
|
rs2131824070
|
|
NM_000368.5(TSC1):c.1797G>A (p.Gly599=)
|
|
|
NM_000368.5(TSC1):c.1800G>A (p.Gln600=)
|
|
|
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)
|
rs543077026
|
|
NM_000368.5(TSC1):c.1806C>T (p.Pro602=)
|
|
|
NM_000368.5(TSC1):c.1809G>C (p.Pro603=)
|
rs112434645
|
|
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.1814A>T (p.Asp605Val)
|
rs994264701
|
|
NM_000368.5(TSC1):c.1815T>C (p.Asp605=)
|
|
|
NM_000368.5(TSC1):c.1830G>A (p.Val610=)
|
rs2131820356
|
|
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.1848C>G (p.Ala616=)
|
rs752286096
|
|
NM_000368.5(TSC1):c.1851T>C (p.His617=)
|
rs2131818787
|
|
NM_000368.5(TSC1):c.1854T>C (p.His618=)
|
rs2131818460
|
|
NM_000368.5(TSC1):c.1860C>T (p.Val620=)
|
rs1588308756
|
|
NM_000368.5(TSC1):c.1863C>T (p.Ile621=)
|
rs898222579
|
|
NM_000368.5(TSC1):c.1866G>A (p.Arg622=)
|
rs2131817489
|
|
NM_000368.5(TSC1):c.186C>G (p.Thr62=)
|
rs1554820640
|
|
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.1872T>G (p.Thr624=)
|
rs2131817057
|
|
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.1893A>T (p.Ala631=)
|
rs2131815302
|
|
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg)
|
rs1471587230
|
|
NM_000368.5(TSC1):c.18T>C (p.Asn6=)
|
rs2132296958
|
|
NM_000368.5(TSC1):c.1905A>G (p.Thr635=)
|
rs2131814347
|
|
NM_000368.5(TSC1):c.1908G>A (p.Glu636=)
|
rs1588308443
|
|
NM_000368.5(TSC1):c.1909G>A (p.Glu637Lys)
|
|
|
NM_000368.5(TSC1):c.1914T>C (p.Asp638=)
|
|
|
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)
|
rs372583166
|
|
NM_000368.5(TSC1):c.1920G>A (p.Val640=)
|
|
|
NM_000368.5(TSC1):c.1920G>C (p.Val640=)
|
|
|
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.1944G>A (p.Val648=)
|
rs1554815720
|
|
NM_000368.5(TSC1):c.1947G>A (p.Leu649=)
|
|
|
NM_000368.5(TSC1):c.1950C>T (p.Asp650=)
|
rs1845608638
|
|
NM_000368.5(TSC1):c.1956G>T (p.Leu652=)
|
rs2131810069
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1977G>T (p.Ala659=)
|
rs35958226
|
|
NM_000368.5(TSC1):c.1980C>T (p.His660=)
|
rs2131808112
|
|
NM_000368.5(TSC1):c.1986G>A (p.Lys662=)
|
rs2131807682
|
|
NM_000368.5(TSC1):c.1989G>A (p.Glu663=)
|
|
|
NM_000368.5(TSC1):c.1997+12G>A
|
|
|
NM_000368.5(TSC1):c.1997+12G>T
|
rs1472417305
|
|
NM_000368.5(TSC1):c.1997+13G>A
|
|
|
NM_000368.5(TSC1):c.1997+15C>T
|
|
|
NM_000368.5(TSC1):c.1997+16A>T
|
rs755582593
|
|
NM_000368.5(TSC1):c.1997+17C>G
|
rs397514860
|
|
NM_000368.5(TSC1):c.1997+17C>T
|
rs397514860
|
|
NM_000368.5(TSC1):c.1997+18T>C
|
rs750338319
|
|
NM_000368.5(TSC1):c.1997+19C>G
|
|
|
NM_000368.5(TSC1):c.1997+9C>G
|
rs371043832
|
|
NM_000368.5(TSC1):c.1997+9C>T
|
rs371043832
|
|
NM_000368.5(TSC1):c.1998-10T>C
|
|
|
NM_000368.5(TSC1):c.1998-11dup
|
rs1388433086
|
|
NM_000368.5(TSC1):c.1998-14A>C
|
|
|
NM_000368.5(TSC1):c.1998-16A>C
|
rs2131789464
|
|
NM_000368.5(TSC1):c.1998-16A>T
|
rs2131789464
|
|
NM_000368.5(TSC1):c.1998-18C>G
|
rs1845550039
|
|
NM_000368.5(TSC1):c.1998-19T>C
|
rs184408837
|
|
NM_000368.5(TSC1):c.1998-20C>T
|
rs1845550517
|
|
NM_000368.5(TSC1):c.1998-24_1998-9dup
|
rs2131789370
|
|
NM_000368.5(TSC1):c.1998-5C>T
|
rs1845548849
|
|
NM_000368.5(TSC1):c.1998-7T>C
|
|
|
NM_000368.5(TSC1):c.1998-7T>G
|
rs1845549017
|
|
NM_000368.5(TSC1):c.1998-8C>A
|
|
|
NM_000368.5(TSC1):c.1999T>C (p.Leu667=)
|
rs2131788780
|
|
NM_000368.5(TSC1):c.2001G>A (p.Leu667=)
|
|
|
NM_000368.5(TSC1):c.2010C>T (p.Pro670=)
|
rs1588305958
|
|
NM_000368.5(TSC1):c.2016G>A (p.Lys672=)
|
rs748487106
|
|
NM_000368.5(TSC1):c.201A>C (p.Pro67=)
|
rs371555137
|
|
NM_000368.5(TSC1):c.2022C>A (p.Val674=)
|
rs118203618
|
|
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.2031C>A (p.Thr677=)
|
rs1060504855
|
|
NM_000368.5(TSC1):c.2031C>T (p.Thr677=)
|
rs1060504855
|
|
NM_000368.5(TSC1):c.2037T>C (p.Phe679=)
|
|
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
|
NM_000368.5(TSC1):c.2041+11T>C
|
|
|
NM_000368.5(TSC1):c.2041+12A>T
|
|
|
NM_000368.5(TSC1):c.2041+13C>T
|
rs1288259134
|
|
NM_000368.5(TSC1):c.2041+15T>C
|
|
|
NM_000368.5(TSC1):c.2041+15T>G
|
|
|
NM_000368.5(TSC1):c.2041+16T>C
|
rs754045538
|
|
NM_000368.5(TSC1):c.2041+17A>G
|
rs2131785386
|
|
NM_000368.5(TSC1):c.2041+6_2041+7dup
|
rs1845540759
|
|
NM_000368.5(TSC1):c.2041+7T>C
|
|
|
NM_000368.5(TSC1):c.2042-10T>A
|
rs1845512917
|
|
NM_000368.5(TSC1):c.2042-12C>T
|
|
|
NM_000368.5(TSC1):c.2042-14dup
|
rs1845513047
|
|
NM_000368.5(TSC1):c.2042-15C>T
|
|
|
NM_000368.5(TSC1):c.2042-19C>T
|
|
|
NM_000368.5(TSC1):c.2042-5A>T
|
rs118203627
|
|
NM_000368.5(TSC1):c.2042-7C>T
|
rs2131775341
|
|
NM_000368.5(TSC1):c.2042-8A>G
|
rs1845512785
|
|
NM_000368.5(TSC1):c.2042-9T>C
|
|
|
NM_000368.5(TSC1):c.2042-9del
|
rs2131775434
|
|
NM_000368.5(TSC1):c.2064C>A (p.Ile688=)
|
rs878853963
|
|
NM_000368.5(TSC1):c.2070C>T (p.Thr690=)
|
rs780223819
|
|
NM_000368.5(TSC1):c.2073C>T (p.Leu691=)
|
rs2131772489
|
|
NM_000368.5(TSC1):c.2082G>A (p.Gln694=)
|
rs2131771543
|
|
NM_000368.5(TSC1):c.2083T>C (p.Leu695=)
|
rs2131771425
|
|
NM_000368.5(TSC1):c.2094G>A (p.Leu698=)
|
rs2131770442
|
|
NM_000368.5(TSC1):c.2094G>T (p.Leu698=)
|
|
|
NM_000368.5(TSC1):c.210+11A>C
|
|
|
NM_000368.5(TSC1):c.210+12A>G
|
rs764911510
|
|
NM_000368.5(TSC1):c.210+15A>G
|
rs2132264232
|
|
NM_000368.5(TSC1):c.210+16T>G
|
rs1057522568
|
|
NM_000368.5(TSC1):c.210+7G>T
|
rs2132264554
|
|
NM_000368.5(TSC1):c.2100C>T (p.Asn700=)
|
|
|
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.211-10del
|
rs1060504859
|
|
NM_000368.5(TSC1):c.211-12T>C
|
|
|
NM_000368.5(TSC1):c.211-16T>A
|
rs118203351
|
|
NM_000368.5(TSC1):c.211-17T>C
|
rs573140264
|
|
NM_000368.5(TSC1):c.211-19T>C
|
rs2132240965
|
|
NM_000368.5(TSC1):c.211-19dup
|
|
|
NM_000368.5(TSC1):c.211-4T>G
|
rs2132240125
|
|
NM_000368.5(TSC1):c.211-8A>C
|
|
|
NM_000368.5(TSC1):c.211-8A>T
|
|
|
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)
|
rs752054698
|
|
NM_000368.5(TSC1):c.2118T>C (p.Arg706=)
|
rs2131766639
|
|
NM_000368.5(TSC1):c.2127G>A (p.Arg709=)
|
|
|
NM_000368.5(TSC1):c.2136T>C (p.His712=)
|
rs1554815286
|
|
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)
|
|
|
NM_000368.5(TSC1):c.213C>T (p.His71=)
|
|
|
NM_000368.5(TSC1):c.2145G>T (p.Arg715=)
|
rs1379334013
|
|
NM_000368.5(TSC1):c.2148C>T (p.Asn716=)
|
rs1554815274
|
|
NM_000368.5(TSC1):c.2149A>C (p.Arg717=)
|
rs1057523194
|
|
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe)
|
rs759183842
|
|
NM_000368.5(TSC1):c.2151G>A (p.Arg717=)
|
rs1301689988
|
|
NM_000368.5(TSC1):c.2157C>T (p.Leu719=)
|
rs1472557024
|
|
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.2169G>A (p.Val723=)
|
rs2131760066
|
|
NM_000368.5(TSC1):c.2178A>G (p.Ala726=)
|
rs1588303718
|
|
NM_000368.5(TSC1):c.217T>C (p.Leu73=)
|
rs2132239282
|
|
NM_000368.5(TSC1):c.2181A>C (p.Ala727=)
|
rs1588303703
|
|
NM_000368.5(TSC1):c.2181A>G (p.Ala727=)
|
rs1588303703
|
|
NM_000368.5(TSC1):c.219G>A (p.Leu73=)
|
rs1588355863
|
|
NM_000368.5(TSC1):c.21C>A (p.Val7=)
|
rs145987906
|
|
NM_000368.5(TSC1):c.2202T>C (p.Ala734=)
|
|
|
NM_000368.5(TSC1):c.2208+10G>A
|
|
|
NM_000368.5(TSC1):c.2208+10G>T
|
rs945077563
|
|
NM_000368.5(TSC1):c.2208+13G>T
|
rs2131755645
|
|
NM_000368.5(TSC1):c.2208+15G>A
|
|
|
NM_000368.5(TSC1):c.2208+16G>A
|
|
|
NM_000368.5(TSC1):c.2208+17G>A
|
rs1057523691
|
|
NM_000368.5(TSC1):c.2208+18G>T
|
|
|
NM_000368.5(TSC1):c.2208+20C>A
|
|
|
NM_000368.5(TSC1):c.2208+20C>G
|
rs771950290
|
|
NM_000368.5(TSC1):c.2208+7A>C
|
|
|
NM_000368.5(TSC1):c.2208+8C>A
|
rs2131755863
|
|
NM_000368.5(TSC1):c.2208+9T>G
|
rs2131755820
|
|
NM_000368.5(TSC1):c.2209-11G>A
|
rs1388387332
|
|
NM_000368.5(TSC1):c.2209-11G>T
|
rs1388387332
|
|
NM_000368.5(TSC1):c.2209-17T>C
|
|
|
NM_000368.5(TSC1):c.2209-18A>G
|
|
|
NM_000368.5(TSC1):c.2209-19C>T
|
rs2131742633
|
|
NM_000368.5(TSC1):c.2209-20A>G
|
rs2131742694
|
|
NM_000368.5(TSC1):c.2209-5G>C
|
rs1588302154
|
|
NM_000368.5(TSC1):c.2209-7C>T
|
|
|
NM_000368.5(TSC1):c.2213A>G (p.Asp738Gly)
|
|
|
NM_000368.5(TSC1):c.2217G>A (p.Gln739=)
|
rs1186305034
|
|
NM_000368.5(TSC1):c.2218T>C (p.Leu740=)
|
rs2131741485
|
|
NM_000368.5(TSC1):c.2220G>A (p.Leu740=)
|
rs1588302073
|
|
NM_000368.5(TSC1):c.2223G>A (p.Lys741=)
|
rs1588302038
|
|
NM_000368.5(TSC1):c.2229A>G (p.Gln743=)
|
|
|
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.2238C>T (p.Asp746=)
|
|
|
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr)
|
|
|
NM_000368.5(TSC1):c.2260C>T (p.Leu754=)
|
rs118203664
|
|
NM_000368.5(TSC1):c.2262G>A (p.Leu754=)
|
|
|
NM_000368.5(TSC1):c.2262G>C (p.Leu754=)
|
rs1845452852
|
|
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)
|
rs397514783
|
|
NM_000368.5(TSC1):c.2277T>C (p.Ala759=)
|
|
|
NM_000368.5(TSC1):c.2283C>T (p.Tyr761=)
|
|
|
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)
|
rs1264839312
|
|
NM_000368.5(TSC1):c.2286T>C (p.Asn762=)
|
rs1554815010
|
|
NM_000368.5(TSC1):c.2292C>G (p.Leu764=)
|
rs2131735763
|
|
NM_000368.5(TSC1):c.2337C>T (p.Ile779=)
|
|
|
NM_000368.5(TSC1):c.2343G>A (p.Gln781=)
|
rs2131731368
|
|
NM_000368.5(TSC1):c.2349G>A (p.Gln783=)
|
|
|
NM_000368.5(TSC1):c.2361G>A (p.Glu787=)
|
|
|
NM_000368.5(TSC1):c.2364A>G (p.Glu788=)
|
rs1588301218
|
|
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=)
|
rs1845442273
|
|
NM_000368.5(TSC1):c.2373C>T (p.Asn791=)
|
|
|
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)
|
rs796053460
|
|
NM_000368.5(TSC1):c.237T>C (p.Tyr79=)
|
rs761596603
|
|
NM_000368.5(TSC1):c.2391+10G>T
|
rs2131727428
|
|
NM_000368.5(TSC1):c.2391+11C>T
|
|
|
NM_000368.5(TSC1):c.2391+12A>C
|
rs2131727338
|
|
NM_000368.5(TSC1):c.2391+12A>G
|
rs2131727338
|
|
NM_000368.5(TSC1):c.2391+13G>A
|
|
|
NM_000368.5(TSC1):c.2391+16C>A
|
|
|
NM_000368.5(TSC1):c.2391+16C>T
|
rs377005728
|
|
NM_000368.5(TSC1):c.2391+19G>A
|
|
|
NM_000368.5(TSC1):c.2391+8C>T
|
rs1554814904
|
|
NM_000368.5(TSC1):c.2391+9T>G
|
rs1564476986
|
|
NM_000368.5(TSC1):c.2392-12C>G
|
rs1845382479
|
|
NM_000368.5(TSC1):c.2392-13T>A
|
|
|
NM_000368.5(TSC1):c.2392-15C>T
|
|
|
NM_000368.5(TSC1):c.2392-16A>T
|
|
|
NM_000368.5(TSC1):c.2392-17C>T
|
rs2131711576
|
|
NM_000368.5(TSC1):c.2392-20G>A
|
|
|
NM_000368.5(TSC1):c.2392-5G>A
|
rs1463016849
|
|
NM_000368.5(TSC1):c.2392-7T>C
|
rs1554814693
|
|
NM_000368.5(TSC1):c.2392-8T>C
|
rs1255802643
|
|
NM_000368.5(TSC1):c.2392-8_2392-7del
|
rs1554814696
|
|
NM_000368.5(TSC1):c.2397G>A (p.Lys799=)
|
|
|
NM_000368.5(TSC1):c.2398C>T (p.Leu800=)
|
rs2131709896
|
|
NM_000368.5(TSC1):c.2400G>A (p.Leu800=)
|
rs2131709742
|
|
NM_000368.5(TSC1):c.2400G>C (p.Leu800=)
|
|
|
NM_000368.5(TSC1):c.2412G>A (p.Arg804=)
|
rs1554814676
|
|
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.2427G>A (p.Glu809=)
|
rs2131707778
|
|
NM_000368.5(TSC1):c.2428C>G (p.Leu810Val)
|
|
|
NM_000368.5(TSC1):c.2430G>A (p.Leu810=)
|
rs2131707611
|
|
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.243C>T (p.Gly81=)
|
rs1588355789
|
|
NM_000368.5(TSC1):c.2440C>T (p.Leu814=)
|
rs199517042
|
|
NM_000368.5(TSC1):c.2442G>A (p.Leu814=)
|
rs2131706727
|
|
NM_000368.5(TSC1):c.2448G>A (p.Lys816=)
|
rs1588299142
|
|
NM_000368.5(TSC1):c.2457C>T (p.Asn819=)
|
rs1471536624
|
|
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)
|
rs1369700443
|
|
NM_000368.5(TSC1):c.2463G>A (p.Val821=)
|
rs764014190
|
|
NM_000368.5(TSC1):c.2463G>C (p.Val821=)
|
rs764014190
|
|
NM_000368.5(TSC1):c.2469C>T (p.His823=)
|
|
|
NM_000368.5(TSC1):c.2472T>A (p.Thr824=)
|
rs762811821
|
|
NM_000368.5(TSC1):c.2472T>G (p.Thr824=)
|
rs762811821
|
|
NM_000368.5(TSC1):c.2478G>A (p.Leu826=)
|
rs149719514
|
|
NM_000368.5(TSC1):c.247G>A (p.Ala83Thr)
|
rs76667066
|
|
NM_000368.5(TSC1):c.2484C>T (p.Leu828=)
|
|
|
NM_000368.5(TSC1):c.2490G>A (p.Gln830=)
|
rs2131703243
|
|
NM_000368.5(TSC1):c.2499A>G (p.Gln833=)
|
rs1554814615
|
|
NM_000368.5(TSC1):c.24G>C (p.Gly8=)
|
|
|
NM_000368.5(TSC1):c.2502+11del
|
|
|
NM_000368.5(TSC1):c.2502+17C>A
|
|
|
NM_000368.5(TSC1):c.2502+8G>T
|
rs2131702325
|
|
NM_000368.5(TSC1):c.2502+8_2502+10del
|
rs762882968
|
|
NM_000368.5(TSC1):c.2503-10T>A
|
rs2131690157
|
|
NM_000368.5(TSC1):c.2503-11T>A
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-11T>G
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-12T>C
|
rs765263617
|
|
NM_000368.5(TSC1):c.2503-12T>G
|
rs765263617
|
|
NM_000368.5(TSC1):c.2503-14T>C
|
|
|
NM_000368.5(TSC1):c.2503-15A>C
|
|
|
NM_000368.5(TSC1):c.2503-16C>A
|
rs763538307
|
|
NM_000368.5(TSC1):c.2503-16C>G
|
|
|
NM_000368.5(TSC1):c.2503-16C>T
|
|
|
NM_000368.5(TSC1):c.2503-3T>C
|
rs1355806067
|
|
NM_000368.5(TSC1):c.2503-4T>C
|
rs772414581
|
|
NM_000368.5(TSC1):c.2503-8T>C
|
|
|
NM_000368.5(TSC1):c.2503-9T>G
|
rs1845337720
|
|
NM_000368.5(TSC1):c.2508A>C (p.Ser836=)
|
rs1554814456
|
|
NM_000368.5(TSC1):c.2508A>G (p.Ser836=)
|
rs1554814456
|
|
NM_000368.5(TSC1):c.2511C>T (p.Asn837=)
|
rs1554814448
|
|
NM_000368.5(TSC1):c.2514T>C (p.Ser838=)
|
rs786203259
|
|
NM_000368.5(TSC1):c.2517G>A (p.Glu839=)
|
rs1554814437
|
|
NM_000368.5(TSC1):c.2520G>C (p.Ser840=)
|
rs547498792
|
|
NM_000368.5(TSC1):c.2520G>T (p.Ser840=)
|
|
|
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.2532G>A (p.Gln844=)
|
rs2131688269
|
|
NM_000368.5(TSC1):c.2538G>A (p.Glu846=)
|
|
|
NM_000368.5(TSC1):c.2547C>T (p.Asn849=)
|
rs1554814418
|
|
NM_000368.5(TSC1):c.2556G>A (p.Leu852=)
|
|
|
NM_000368.5(TSC1):c.2556G>T (p.Leu852=)
|
rs770381040
|
|
NM_000368.5(TSC1):c.2557T>C (p.Leu853=)
|
rs2131687370
|
|
NM_000368.5(TSC1):c.255T>C (p.Thr85=)
|
rs1060504856
|
|
NM_000368.5(TSC1):c.2560G>A (p.Val854Ile)
|
|
|
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys)
|
rs1463772907
|
|
NM_000368.5(TSC1):c.2574C>A (p.Val858=)
|
rs1588297282
|
|
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys)
|
rs1169898186
|
|
NM_000368.5(TSC1):c.2580G>A (p.Glu860=)
|
rs1845329120
|
|
NM_000368.5(TSC1):c.2583C>A (p.Leu861=)
|
|
|
NM_000368.5(TSC1):c.2587T>C (p.Leu863=)
|
|
|
NM_000368.5(TSC1):c.2601G>A (p.Gln867=)
|
rs2131685313
|
|
NM_000368.5(TSC1):c.2607G>A (p.Lys869=)
|
rs1845327520
|
|
NM_000368.5(TSC1):c.2613A>G (p.Ser871=)
|
rs1031508405
|
|
NM_000368.5(TSC1):c.2622A>G (p.Thr874=)
|
rs2131684460
|
|
NM_000368.5(TSC1):c.2625+10G>T
|
|
|
NM_000368.5(TSC1):c.2625+11G>A
|
|
|
NM_000368.5(TSC1):c.2625+14C>G
|
rs757876250
|
|
NM_000368.5(TSC1):c.2625+17del
|
|
|
NM_000368.5(TSC1):c.2625+20C>G
|
rs2131683620
|
|
NM_000368.5(TSC1):c.2625+367del
|
rs2131679212
|
|
NM_000368.5(TSC1):c.2625+7C>T
|
rs2131684063
|
|
NM_000368.5(TSC1):c.2625+9G>A
|
|
|
NM_000368.5(TSC1):c.2625+9G>C
|
rs2131684014
|
|
NM_000368.5(TSC1):c.2625+9G>T
|
rs2131684014
|
|
NM_000368.5(TSC1):c.2626-10T>G
|
|
|
NM_000368.5(TSC1):c.2626-10_2626-9insG
|
|
|
NM_000368.5(TSC1):c.2626-14_2626-4dup
|
|
|
NM_000368.5(TSC1):c.2626-15_2626-4del
|
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insT
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-3dup
|
rs1554813639
|
|
NM_000368.5(TSC1):c.2626-4T>A
|
rs777386691
|
|
NM_000368.5(TSC1):c.2626-4_2626-3insTTC
|
|
|
NM_000368.5(TSC1):c.2626-6_2626-5insTC
|
rs1256355250
|
|
NM_000368.5(TSC1):c.2626-8T>C
|
rs1588291364
|
|
NM_000368.5(TSC1):c.2626-9T>C
|
rs1588291375
|
|
NM_000368.5(TSC1):c.2626-9_2626-8insTG
|
rs1251149647
|
|
NM_000368.5(TSC1):c.2628A>G (p.Glu876=)
|
rs1588291185
|
|
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
|
rs778416424
|
|
NM_000368.5(TSC1):c.2646C>A (p.Ala882=)
|
|
|
NM_000368.5(TSC1):c.2649C>G (p.Ala883=)
|
rs1279318276
|
|
NM_000368.5(TSC1):c.264C>T (p.Ser88=)
|
|
|
NM_000368.5(TSC1):c.2652T>C (p.Tyr884=)
|
|
|
NM_000368.5(TSC1):c.2662C>T (p.Leu888=)
|
|
|
NM_000368.5(TSC1):c.2664A>G (p.Leu888=)
|
rs2131638076
|
|
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile)
|
rs587778724
|
|
NM_000368.5(TSC1):c.2667A>G (p.Glu889=)
|
rs1554813546
|
|
NM_000368.5(TSC1):c.2679C>T (p.Ser893=)
|
rs374311456
|
|
NM_000368.5(TSC1):c.2682T>C (p.His894=)
|
rs771479673
|
|
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>G (p.Leu896=)
|
rs2131636756
|
|
NM_000368.5(TSC1):c.2691G>A (p.Gln897=)
|
|
|
NM_000368.5(TSC1):c.2703G>A (p.Arg901=)
|
|
|
NM_000368.5(TSC1):c.2707G>C (p.Asp903His)
|
|
|
NM_000368.5(TSC1):c.2709T>C (p.Asp903=)
|
rs2131635426
|
|
NM_000368.5(TSC1):c.270C>G (p.Leu90=)
|
rs142325036
|
|
NM_000368.5(TSC1):c.2722C>A (p.Arg908=)
|
|
|
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu)
|
rs118203361
|
|
NM_000368.5(TSC1):c.2736G>A (p.Leu912=)
|
rs1588290587
|
|
NM_000368.5(TSC1):c.2739A>G (p.Glu913=)
|
rs750238092
|
|
NM_000368.5(TSC1):c.273G>C (p.Ser91=)
|
rs115097221
|
|
NM_000368.5(TSC1):c.273G>T (p.Ser91=)
|
|
|
NM_000368.5(TSC1):c.2746C>T (p.Leu916=)
|
rs2131633483
|
|
NM_000368.5(TSC1):c.2748G>A (p.Leu916=)
|
rs1588290553
|
|
NM_000368.5(TSC1):c.2748G>C (p.Leu916=)
|
rs1588290553
|
|
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln)
|
rs1319954878
|
|
NM_000368.5(TSC1):c.2757A>G (p.Lys919=)
|
rs2131632795
|
|
NM_000368.5(TSC1):c.2760C>T (p.Asp920=)
|
rs1226490074
|
|
NM_000368.5(TSC1):c.2778G>A (p.Gln926=)
|
rs1554813423
|
|
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=)
|
rs753980869
|
|
NM_000368.5(TSC1):c.2788C>T (p.Leu930=)
|
|
|
NM_000368.5(TSC1):c.2790A>G (p.Leu930=)
|
rs2131631187
|
|
NM_000368.5(TSC1):c.2805C>T (p.Leu935=)
|
|
|
NM_000368.5(TSC1):c.2808G>A (p.Gln936=)
|
rs1588290331
|
|
NM_000368.5(TSC1):c.2811A>G (p.Ala937=)
|
|
|
NM_000368.5(TSC1):c.2813+10A>C
|
|
|
NM_000368.5(TSC1):c.2813+5C>T
|
rs1060503223
|
|
NM_000368.5(TSC1):c.2813+9C>G
|
|
|
NM_000368.5(TSC1):c.2814-11G>A
|
rs1287695326
|
|
NM_000368.5(TSC1):c.2814-13C>T
|
rs1393952049
|
|
NM_000368.5(TSC1):c.2814-17T>C
|
rs2131629273
|
|
NM_000368.5(TSC1):c.2814-18C>G
|
|
|
NM_000368.5(TSC1):c.2814-18C>T
|
rs1588290161
|
|
NM_000368.5(TSC1):c.2814-19G>A
|
rs2131629351
|
|
NM_000368.5(TSC1):c.2814-19G>C
|
|
|
NM_000368.5(TSC1):c.2814-7C>T
|
rs1060504851
|
|
NM_000368.5(TSC1):c.2820G>A (p.Gln940=)
|
|
|
NM_000368.5(TSC1):c.2821C>T (p.Leu941=)
|
rs2131628647
|
|
NM_000368.5(TSC1):c.2823G>A (p.Leu941=)
|
|
|
NM_000368.5(TSC1):c.2832A>G (p.Ala944=)
|
rs2131628099
|
|
NM_000368.5(TSC1):c.2841G>A (p.Arg947=)
|
rs1417111404
|
|
NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser)
|
rs1417111404
|
|
NM_000368.5(TSC1):c.2844T>C (p.Tyr948=)
|
|
|
NM_000368.5(TSC1):c.2853G>A (p.Gln951=)
|
rs2131627425
|
|
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.2874T>C (p.Phe958=)
|
rs2131626672
|
|
NM_000368.5(TSC1):c.2898T>C (p.Tyr966=)
|
rs1057522171
|
|
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.2916T>C (p.Asp972=)
|
rs775179927
|
|
NM_000368.5(TSC1):c.2923C>T (p.Leu975=)
|
|
|
NM_000368.5(TSC1):c.2925G>A (p.Leu975=)
|
|
|
NM_000368.5(TSC1):c.2934T>C (p.Leu978=)
|
rs1554813253
|
|
NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg)
|
rs1057520508
|
|
NM_000368.5(TSC1):c.2958T>C (p.Ala986=)
|
|
|
NM_000368.5(TSC1):c.295C>T (p.Leu99=)
|
rs2132233679
|
|
NM_000368.5(TSC1):c.2967A>G (p.Ala989=)
|
|
|
NM_000368.5(TSC1):c.2967A>T (p.Ala989=)
|
|
|
NM_000368.5(TSC1):c.2973A>G (p.Glu991=)
|
|
|
NM_000368.5(TSC1):c.2975+10A>G
|
|
|
NM_000368.5(TSC1):c.2975+12G>T
|
rs1222204401
|
|
NM_000368.5(TSC1):c.2975+12_2975+13del
|
|
|
NM_000368.5(TSC1):c.2975+13A>G
|
rs1845113774
|
|
NM_000368.5(TSC1):c.2975+15C>A
|
|
|
NM_000368.5(TSC1):c.2975+15C>G
|
|
|
NM_000368.5(TSC1):c.2975+15C>T
|
|
|
NM_000368.5(TSC1):c.2975+16T>G
|
|
|
NM_000368.5(TSC1):c.2975+20T>A
|
|
|
NM_000368.5(TSC1):c.2975+20T>G
|
|
|
NM_000368.5(TSC1):c.2975+4G>C
|
rs1057521710
|
|
NM_000368.5(TSC1):c.2975+7A>T
|
rs2131622632
|
|
NM_000368.5(TSC1):c.2975+8C>A
|
rs1588289352
|
|
NM_000368.5(TSC1):c.2976-10T>A
|
rs913722609
|
|
NM_000368.5(TSC1):c.2976-11C>G
|
|
|
NM_000368.5(TSC1):c.2976-13G>C
|
rs1845091594
|
|
NM_000368.5(TSC1):c.2976-14C>G
|
rs368652971
|
|
NM_000368.5(TSC1):c.2976-15C>T
|
rs1195411560
|
|
NM_000368.5(TSC1):c.2976-17C>T
|
|
|
NM_000368.5(TSC1):c.2976-4dup
|
|
|
NM_000368.5(TSC1):c.2976-7C>T
|
rs2131617134
|
|
NM_000368.5(TSC1):c.2976-8T>G
|
rs1060504858
|
|
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)
|
rs144314195
|
|
NM_000368.5(TSC1):c.2987G>A (p.Cys996Tyr)
|
rs771810884
|
|
NM_000368.5(TSC1):c.2988T>C (p.Cys996=)
|
rs1588288374
|
|
NM_000368.5(TSC1):c.2997G>A (p.Gly999=)
|
rs1437222540
|
|
NM_000368.5(TSC1):c.3000C>T (p.Cys1000=)
|
|
|
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=)
|
rs2131615637
|
|
NM_000368.5(TSC1):c.300G>A (p.Gln100=)
|
rs1588355421
|
|
NM_000368.5(TSC1):c.3015A>G (p.Val1005=)
|
|
|
NM_000368.5(TSC1):c.3015A>T (p.Val1005=)
|
|
|
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=)
|
|
|
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=)
|
rs142954164
|
|
NM_000368.5(TSC1):c.3027A>G (p.Glu1009=)
|
rs1588288126
|
|
NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly)
|
|
|
NM_000368.5(TSC1):c.3030G>A (p.Glu1010=)
|
rs118203741
|
|
NM_000368.5(TSC1):c.3039C>A (p.Gly1013=)
|
|
|
NM_000368.5(TSC1):c.3039C>T (p.Gly1013=)
|
|
|
NM_000368.5(TSC1):c.303A>G (p.Pro101=)
|
rs2132233153
|
|
NM_000368.5(TSC1):c.3042C>T (p.His1014=)
|
rs1394343524
|
|
NM_000368.5(TSC1):c.3051G>A (p.Glu1017=)
|
|
|
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu)
|
rs1317622700
|
|
NM_000368.5(TSC1):c.3060C>A (p.Thr1020=)
|
|
|
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.3066G>A (p.Arg1022=)
|
rs1588287932
|
|
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser)
|
rs138445573
|
|
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=)
|
rs1588287899
|
|
NM_000368.5(TSC1):c.3072C>T (p.Ser1024=)
|
rs1554812912
|
|
NM_000368.5(TSC1):c.3084C>T (p.Gly1028=)
|
|
|
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)
|
rs796053450
|
|
NM_000368.5(TSC1):c.30T>A (p.Leu10=)
|
|
|
NM_000368.5(TSC1):c.3105T>A (p.Gly1035=)
|
rs1588287659
|
|
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)
|
rs774196458
|
|
NM_000368.5(TSC1):c.3111C>G (p.Gly1037=)
|
rs2131608875
|
|
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=)
|
rs1588287598
|
|
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg)
|
rs1490199228
|
|
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)
|
rs148931779
|
|
NM_000368.5(TSC1):c.3126C>T (p.Ser1042=)
|
|
|
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=)
|
rs1588287426
|
|
NM_000368.5(TSC1):c.3141C>A (p.Thr1047=)
|
rs892228756
|
|
NM_000368.5(TSC1):c.3141C>T (p.Thr1047=)
|
rs892228756
|
|
NM_000368.5(TSC1):c.3144A>C (p.Pro1048=)
|
rs1554812826
|
|
NM_000368.5(TSC1):c.3144A>G (p.Pro1048=)
|
rs1554812826
|
|
NM_000368.5(TSC1):c.3159C>T (p.His1053=)
|
rs778413037
|
|
NM_000368.5(TSC1):c.3162G>A (p.Gln1054=)
|
|
|
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met)
|
rs1167652701
|
|
NM_000368.5(TSC1):c.3165G>A (p.Arg1055=)
|
rs2131604362
|
|
NM_000368.5(TSC1):c.3168A>G (p.Ala1056=)
|
rs2131604139
|
|
NM_000368.5(TSC1):c.3174A>G (p.Pro1058=)
|
|
|
NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu)
|
rs1379924767
|
|
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=)
|
rs753263747
|
|
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=)
|
rs2131603096
|
|
NM_000368.5(TSC1):c.3186G>A (p.Arg1062=)
|
|
|
NM_000368.5(TSC1):c.3186G>T (p.Arg1062=)
|
|
|
NM_000368.5(TSC1):c.318G>A (p.Lys106=)
|
|
|
NM_000368.5(TSC1):c.3192G>A (p.Glu1064=)
|
|
|
NM_000368.5(TSC1):c.3195G>T (p.Thr1065=)
|
|
|
NM_000368.5(TSC1):c.3198T>G (p.Thr1066=)
|
rs1845061945
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
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.3216C>G (p.Ala1072=)
|
rs118203747
|
|
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=)
|
rs118203747
|
|
NM_000368.5(TSC1):c.321C>T (p.Leu107=)
|
rs2132232165
|
|
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)
|
|
|
NM_000368.5(TSC1):c.3225C>T (p.Pro1075=)
|
|
|
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=)
|
rs140622357
|
|
NM_000368.5(TSC1):c.3240A>C (p.Ser1080=)
|
|
|
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=)
|
rs1554812759
|
|
NM_000368.5(TSC1):c.3243T>A (p.Leu1081=)
|
rs2131599256
|
|
NM_000368.5(TSC1):c.3246C>A (p.Pro1082=)
|
rs2131599043
|
|
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=)
|
rs2131599043
|
|
NM_000368.5(TSC1):c.3261C>T (p.Phe1087=)
|
rs2131598168
|
|
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.3276T>G (p.Ala1092=)
|
rs2131597261
|
|
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.3279A>G (p.Arg1093=)
|
rs772288584
|
|
NM_000368.5(TSC1):c.327A>G (p.Gln109=)
|
|
|
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)
|
rs1263464680
|
|
NM_000368.5(TSC1):c.330A>C (p.Ala110=)
|
|
|
NM_000368.5(TSC1):c.330A>T (p.Ala110=)
|
rs2132231516
|
|
NM_000368.5(TSC1):c.3311G>A (p.Cys1104Tyr)
|
rs796053467
|
|
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
|
|
|
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=)
|
rs2131594665
|
|
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=)
|
rs761334590
|
|
NM_000368.5(TSC1):c.3351A>C (p.Leu1117=)
|
|
|
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.3363G>A (p.Leu1121=)
|
|
|
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=)
|
rs1060504857
|
|
NM_000368.5(TSC1):c.3363G>T (p.Leu1121=)
|
rs1060504857
|
|
NM_000368.5(TSC1):c.3372C>T (p.Asp1124=)
|
|
|
NM_000368.5(TSC1):c.3377G>T (p.Gly1126Val)
|
rs1446630759
|
|
NM_000368.5(TSC1):c.3378T>A (p.Gly1126=)
|
rs2131591124
|
|
NM_000368.5(TSC1):c.3396C>G (p.Pro1132=)
|
rs774980129
|
|
NM_000368.5(TSC1):c.3399G>A (p.Leu1133=)
|
rs2131589934
|
|
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.3411C>A (p.Gly1137=)
|
|
|
NM_000368.5(TSC1):c.3417C>T (p.His1139=)
|
rs756737864
|
|
NM_000368.5(TSC1):c.3423T>A (p.Ser1141=)
|
|
|
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=)
|
rs1564469544
|
|
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>G (p.Thr1144=)
|
rs1588285980
|
|
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=)
|
rs1588285980
|
|
NM_000368.5(TSC1):c.3435G>C (p.Pro1145=)
|
rs140352085
|
|
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=)
|
rs1554812550
|
|
NM_000368.5(TSC1):c.3456T>C (p.His1152=)
|
rs1588285851
|
|
NM_000368.5(TSC1):c.3459C>T (p.Ile1153=)
|
rs1290663446
|
|
NM_000368.5(TSC1):c.346T>C (p.Leu116=)
|
rs199620268
|
|
NM_000368.5(TSC1):c.3471T>C (p.Asn1157=)
|
|
|
NM_000368.5(TSC1):c.3480T>C (p.His1160=)
|
|
|
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.349C>T (p.Leu117=)
|
|
|
NM_000368.5(TSC1):c.363+11T>C
|
|
|
NM_000368.5(TSC1):c.363+17G>T
|
rs2132228627
|
|
NM_000368.5(TSC1):c.363+18del
|
|
|
NM_000368.5(TSC1):c.363+19T>C
|
|
|
NM_000368.5(TSC1):c.363+7T>A
|
|
|
NM_000368.5(TSC1):c.364-10T>C
|
rs2132194838
|
|
NM_000368.5(TSC1):c.364-12T>C
|
|
|
NM_000368.5(TSC1):c.364-13dup
|
rs1355054898
|
|
NM_000368.5(TSC1):c.364-14C>T
|
rs1020420756
|
|
NM_000368.5(TSC1):c.364-14del
|
|
|
NM_000368.5(TSC1):c.364-15C>A
|
|
|
NM_000368.5(TSC1):c.364-15C>T
|
rs1846686000
|
|
NM_000368.5(TSC1):c.364-16A>G
|
|
|
NM_000368.5(TSC1):c.364-19T>G
|
rs2132195223
|
|
NM_000368.5(TSC1):c.364-20T>G
|
|
|
NM_000368.5(TSC1):c.364-4G>A
|
|
|
NM_000368.5(TSC1):c.364-5T>C
|
rs111865190
|
|
NM_000368.5(TSC1):c.364-5T>G
|
|
|
NM_000368.5(TSC1):c.364-6C>T
|
rs2132194685
|
|
NM_000368.5(TSC1):c.364-7C>A
|
rs775465260
|
|
NM_000368.5(TSC1):c.364-7C>G
|
rs775465260
|
|
NM_000368.5(TSC1):c.364-9C>T
|
|
|
NM_000368.5(TSC1):c.369C>T (p.Asp123=)
|
rs2132194269
|
|
NM_000368.5(TSC1):c.36C>A (p.Ala12=)
|
rs1588363584
|
|
NM_000368.5(TSC1):c.372T>G (p.Thr124=)
|
rs1237342078
|
|
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala)
|
rs1564499857
|
|
NM_000368.5(TSC1):c.393A>C (p.Thr131=)
|
|
|
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)
|
rs397514784
|
|
NM_000368.5(TSC1):c.396C>A (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.396C>T (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.405G>A (p.Val135=)
|
|
|
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.42G>A (p.Leu14=)
|
rs762233181
|
|
NM_000368.5(TSC1):c.42G>C (p.Leu14=)
|
|
|
NM_000368.5(TSC1):c.432A>C (p.Pro144=)
|
rs1366888701
|
|
NM_000368.5(TSC1):c.435G>A (p.Gln145=)
|
|
|
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.450T>C (p.His150=)
|
|
|
NM_000368.5(TSC1):c.468C>T (p.Asp156=)
|
rs1588350435
|
|
NM_000368.5(TSC1):c.477C>T (p.Gly159=)
|
rs2132187799
|
|
NM_000368.5(TSC1):c.480T>A (p.Arg160=)
|
|
|
NM_000368.5(TSC1):c.480T>G (p.Arg160=)
|
|
|
NM_000368.5(TSC1):c.481C>T (p.Leu161=)
|
rs1846672288
|
|
NM_000368.5(TSC1):c.483G>A (p.Leu161=)
|
|
|
NM_000368.5(TSC1):c.489A>G (p.Ser163=)
|
rs118203386
|
|
NM_000368.5(TSC1):c.489A>T (p.Ser163=)
|
rs118203386
|
|
NM_000368.5(TSC1):c.490T>C (p.Trp164Arg)
|
rs1353861668
|
|
NM_000368.5(TSC1):c.495C>T (p.Cys165=)
|
rs118203388
|
|
NM_000368.5(TSC1):c.508+13T>C
|
|
|
NM_000368.5(TSC1):c.508+14C>G
|
|
|
NM_000368.5(TSC1):c.508+7A>T
|
rs1846668543
|
|
NM_000368.5(TSC1):c.508+8T>C
|
rs2132185556
|
|
NM_000368.5(TSC1):c.508+9C>A
|
rs528772865
|
|
NM_000368.5(TSC1):c.508+9C>T
|
|
|
NM_000368.5(TSC1):c.509-14G>A
|
|
|
NM_000368.5(TSC1):c.509-14G>T
|
rs984165284
|
|
NM_000368.5(TSC1):c.509-15_509-14delinsCT
|
rs2132163342
|
|
NM_000368.5(TSC1):c.509-18A>G
|
rs953918061
|
|
NM_000368.5(TSC1):c.509-4C>G
|
rs2132162807
|
|
NM_000368.5(TSC1):c.509-5T>C
|
rs1846593189
|
|
NM_000368.5(TSC1):c.509-9C>G
|
rs1275897593
|
|
NM_000368.5(TSC1):c.509-9del
|
rs1436371020
|
|
NM_000368.5(TSC1):c.516G>A (p.Val172=)
|
rs1419763219
|
|
NM_000368.5(TSC1):c.51C>T (p.Pro17=)
|
rs768175095
|
|
NM_000368.5(TSC1):c.522A>G (p.Glu174=)
|
|
|
NM_000368.5(TSC1):c.525C>G (p.Val175=)
|
rs2132161260
|
|
NM_000368.5(TSC1):c.528T>C (p.Tyr176=)
|
|
|
NM_000368.5(TSC1):c.540C>G (p.Leu180=)
|
rs201562103
|
|
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
|
rs397515294
|
|
NM_000368.5(TSC1):c.549T>C (p.Ser183=)
|
rs774398322
|
|
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.558A>G (p.Ala186=)
|
rs2132158268
|
|
NM_000368.5(TSC1):c.561C>G (p.Leu187=)
|
rs2132158033
|
|
NM_000368.5(TSC1):c.561C>T (p.Leu187=)
|
rs2132158033
|
|
NM_000368.5(TSC1):c.564T>C (p.Phe188=)
|
rs2132157821
|
|
NM_000368.5(TSC1):c.567T>C (p.His189=)
|
rs2132157565
|
|
NM_000368.5(TSC1):c.573T>G (p.Leu191=)
|
|
|
NM_000368.5(TSC1):c.576T>C (p.Tyr192=)
|
rs118203406
|
|
NM_000368.5(TSC1):c.57G>C (p.Leu19=)
|
rs2132295317
|
|
NM_000368.5(TSC1):c.585C>T (p.Tyr195=)
|
rs118203407
|
|
NM_000368.5(TSC1):c.603C>A (p.Ser201=)
|
rs777571943
|
|
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.633A>G (p.Glu211=)
|
rs753550247
|
|
NM_000368.5(TSC1):c.636C>T (p.Asn212=)
|
|
|
NM_000368.5(TSC1):c.637C>T (p.Leu213=)
|
rs999904570
|
|
NM_000368.5(TSC1):c.639G>A (p.Leu213=)
|
rs2132151091
|
|
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
|
|
|
NM_000368.5(TSC1):c.64C>A (p.Arg22=)
|
|
|
NM_000368.5(TSC1):c.657G>A (p.Val219=)
|
rs755910789
|
|
NM_000368.5(TSC1):c.657G>T (p.Val219=)
|
rs755910789
|
|
NM_000368.5(TSC1):c.658G>A (p.Val220Ile)
|
|
|
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.663+11A>G
|
rs2132148438
|
|
NM_000368.5(TSC1):c.663+13T>C
|
|
|
NM_000368.5(TSC1):c.663+13T>G
|
rs1846572826
|
|
NM_000368.5(TSC1):c.663+14G>C
|
rs2132148240
|
|
NM_000368.5(TSC1):c.663+16T>C
|
rs2132148143
|
|
NM_000368.5(TSC1):c.663+18G>A
|
rs1304956665
|
|
NM_000368.5(TSC1):c.663+20T>C
|
rs2132147919
|
|
NM_000368.5(TSC1):c.663+7T>C
|
rs118203420
|
|
NM_000368.5(TSC1):c.663+7T>G
|
rs118203420
|
|
NM_000368.5(TSC1):c.663+9A>G
|
rs1240986386
|
|
NM_000368.5(TSC1):c.664-11A>G
|
|
|
NM_000368.5(TSC1):c.664-11A>T
|
|
|
NM_000368.5(TSC1):c.664-12C>T
|
|
|
NM_000368.5(TSC1):c.664-16A>T
|
|
|
NM_000368.5(TSC1):c.664-17C>T
|
|
|
NM_000368.5(TSC1):c.664-18T>C
|
rs2132139374
|
|
NM_000368.5(TSC1):c.664-4C>G
|
rs2132138750
|
|
NM_000368.5(TSC1):c.664-7C>T
|
rs2132138899
|
|
NM_000368.5(TSC1):c.664-9C>T
|
rs757752536
|
|
NM_000368.5(TSC1):c.66G>A (p.Arg22=)
|
rs2132294888
|
|
NM_000368.5(TSC1):c.675G>A (p.Glu225=)
|
rs1846548662
|
|
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)
|
rs1223799508
|
|
NM_000368.5(TSC1):c.690T>C (p.His230=)
|
rs2132136607
|
|
NM_000368.5(TSC1):c.693G>A (p.Pro231=)
|
rs749311040
|
|
NM_000368.5(TSC1):c.696A>G (p.Glu232=)
|
rs1588345709
|
|
NM_000368.5(TSC1):c.711C>T (p.Ser237=)
|
rs1588345678
|
|
NM_000368.5(TSC1):c.712A>G (p.Lys238Glu)
|
|
|
NM_000368.5(TSC1):c.714G>A (p.Lys238=)
|
rs2132134730
|
|
NM_000368.5(TSC1):c.720T>C (p.His240=)
|
|
|
NM_000368.5(TSC1):c.723A>G (p.Glu241=)
|
|
|
NM_000368.5(TSC1):c.724C>T (p.Leu242=)
|
rs118203432
|
|
NM_000368.5(TSC1):c.726G>C (p.Leu242=)
|
rs2132133780
|
|
NM_000368.5(TSC1):c.737+10C>G
|
rs1554819375
|
|
NM_000368.5(TSC1):c.737+10C>T
|
rs1554819375
|
|
NM_000368.5(TSC1):c.737+12A>G
|
|
|
NM_000368.5(TSC1):c.737+17del
|
|
|
NM_000368.5(TSC1):c.737+19A>G
|
rs1162425973
|
|
NM_000368.5(TSC1):c.737+20A>C
|
rs764271835
|
|
NM_000368.5(TSC1):c.737+8A>T
|
|
|
NM_000368.5(TSC1):c.738-11G>A
|
rs2132007936
|
|
NM_000368.5(TSC1):c.738-12T>G
|
rs2132008003
|
|
NM_000368.5(TSC1):c.738-16T>C
|
rs2132008163
|
|
NM_000368.5(TSC1):c.738-18T>G
|
rs2132008244
|
|
NM_000368.5(TSC1):c.738-19C>T
|
|
|
NM_000368.5(TSC1):c.738-9A>G
|
rs1846021685
|
|
NM_000368.5(TSC1):c.745A>C (p.Arg249=)
|
|
|
NM_000368.5(TSC1):c.750A>G (p.Leu250=)
|
rs2132006420
|
|
NM_000368.5(TSC1):c.756T>G (p.Thr252=)
|
rs2132006065
|
|
NM_000368.5(TSC1):c.765T>G (p.Val255=)
|
rs1588327624
|
|
NM_000368.5(TSC1):c.770T>A (p.Ile257Asn)
|
rs745640752
|
|
NM_000368.5(TSC1):c.771C>A (p.Ile257=)
|
rs1060504854
|
|
NM_000368.5(TSC1):c.780C>T (p.Ala260=)
|
rs2132003938
|
|
NM_000368.5(TSC1):c.786C>A (p.Ile262=)
|
|
|
NM_000368.5(TSC1):c.786C>T (p.Ile262=)
|
rs779015004
|
|
NM_000368.5(TSC1):c.789T>C (p.Ser263=)
|
rs2132003258
|
|
NM_000368.5(TSC1):c.792G>A (p.Leu264=)
|
rs1257538409
|
|
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp)
|
rs1347033062
|
|
NM_000368.5(TSC1):c.807C>T (p.Ala269=)
|
|
|
NM_000368.5(TSC1):c.813T>C (p.Tyr271=)
|
rs118203452
|
|
NM_000368.5(TSC1):c.816A>G (p.Glu272=)
|
rs2132001195
|
|
NM_000368.5(TSC1):c.818A>T (p.Asp273Val)
|
|
|
NM_000368.5(TSC1):c.819T>C (p.Asp273=)
|
rs148756522
|
|
NM_000368.5(TSC1):c.81T>C (p.Ala27=)
|
rs1588363327
|
|
NM_000368.5(TSC1):c.820G>A (p.Gly274Ser)
|
rs1389310342
|
|
NM_000368.5(TSC1):c.825T>C (p.Tyr275=)
|
|
|
NM_000368.5(TSC1):c.828T>A (p.Ser276=)
|
rs1588327195
|
|
NM_000368.5(TSC1):c.828T>C (p.Ser276=)
|
|
|
NM_000368.5(TSC1):c.839A>G (p.Gln280Arg)
|
|
|
NM_000368.5(TSC1):c.846A>G (p.Ser282=)
|
rs768226293
|
|
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.867A>G (p.Ser289=)
|
rs1588326877
|
|
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.876C>G (p.Val292=)
|
rs116756594
|
|
NM_000368.5(TSC1):c.879C>T (p.Thr293=)
|
rs1554817584
|
|
NM_000368.5(TSC1):c.882C>T (p.Thr294=)
|
rs1588326689
|
|
NM_000368.5(TSC1):c.885C>T (p.Ser295=)
|
|
|
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser)
|
rs750890263
|
|
NM_000368.5(TSC1):c.888T>C (p.Pro296=)
|
|
|
NM_000368.5(TSC1):c.891T>C (p.Tyr297=)
|
rs118203461
|
|
NM_000368.5(TSC1):c.899C>A (p.Thr300Lys)
|
|
|
NM_000368.5(TSC1):c.900A>G (p.Thr300=)
|
rs2131994220
|
|
NM_000368.5(TSC1):c.903G>A (p.Gln301=)
|
rs762200890
|
|
NM_000368.5(TSC1):c.90A>G (p.Lys30=)
|
rs1847032608
|
|
NM_000368.5(TSC1):c.913+10G>A
|
rs2131992961
|
|
NM_000368.5(TSC1):c.913+11T>G
|
rs1846001522
|
|
NM_000368.5(TSC1):c.913+15T>C
|
|
|
NM_000368.5(TSC1):c.913+17G>C
|
rs762571446
|
|
NM_000368.5(TSC1):c.913+17G>T
|
rs762571446
|
|
NM_000368.5(TSC1):c.913+19A>G
|
rs2131992657
|
|
NM_000368.5(TSC1):c.913+20C>G
|
|
|
NM_000368.5(TSC1):c.913+20C>T
|
|
|
NM_000368.5(TSC1):c.913+7A>C
|
rs2131993085
|
|
NM_000368.5(TSC1):c.913+8G>A
|
|
|
NM_000368.5(TSC1):c.913+9T>A
|
rs1588326345
|
|
NM_000368.5(TSC1):c.913+9T>C
|
rs1588326345
|
|
NM_000368.5(TSC1):c.914-10T>C
|
rs1554817441
|
|
NM_000368.5(TSC1):c.914-11T>C
|
rs745979259
|
|
NM_000368.5(TSC1):c.914-14C>G
|
rs2131983247
|
|
NM_000368.5(TSC1):c.914-15_914-13del
|
|
|
NM_000368.5(TSC1):c.914-16T>C
|
|
|
NM_000368.5(TSC1):c.914-20G>C
|
rs1588325085
|
|
NM_000368.5(TSC1):c.914-4T>G
|
rs2131982922
|
|
NM_000368.5(TSC1):c.914-7A>G
|
rs1588325018
|
|
NM_000368.5(TSC1):c.915G>T (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.918T>C (p.Cys306=)
|
rs34610255
|
|
NM_000368.5(TSC1):c.921T>G (p.Ala307=)
|
|
|
NM_000368.5(TSC1):c.924T>C (p.Thr308=)
|
|
|
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr)
|
rs1332186256
|
|
NM_000368.5(TSC1):c.936C>T (p.Tyr312=)
|
|
|
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)
|
rs766317920
|
|
NM_000368.5(TSC1):c.939C>T (p.Ser313=)
|
rs1588324777
|
|
NM_000368.5(TSC1):c.93G>A (p.Glu31=)
|
|
|
NM_000368.5(TSC1):c.942G>T (p.Thr314=)
|
rs144208203
|
|
NM_000368.5(TSC1):c.949C>T (p.Leu317=)
|
rs1588324686
|
|
NM_000368.5(TSC1):c.951G>A (p.Leu317=)
|
rs1554817419
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
NM_000368.5(TSC1):c.957G>A (p.Leu319=)
|
rs1845961446
|
|
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr)
|
rs1588324568
|
|
NM_000368.5(TSC1):c.965_966inv (p.Met322Thr)
|
|
|
NM_000368.5(TSC1):c.967C>G (p.Pro323Ala)
|
|
|
NM_000368.5(TSC1):c.969A>G (p.Pro323=)
|
rs1418510093
|
|
NM_000368.5(TSC1):c.96C>T (p.Asn32=)
|
rs1588363242
|
|
NM_000368.5(TSC1):c.972G>A (p.Gly324=)
|
rs118203473
|
|
NM_000368.5(TSC1):c.975G>A (p.Gln325=)
|
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.984G>A (p.Gln328=)
|
rs2131977316
|
|
NM_000368.5(TSC1):c.988C>T (p.Leu330=)
|
rs1060503222
|
|
NM_000368.5(TSC1):c.993T>C (p.Ser331=)
|
rs1588324306
|
|
NM_000368.5(TSC1):c.996C>T (p.Ser332=)
|
rs1588324281
|
|
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser)
|
rs1057520994
|
|
NM_000368.5(TSC1):c.999A>G (p.Pro333=)
|
rs1192409248
|
|
NM_000368.5(TSC1):c.99C>T (p.Leu33=)
|
rs757216373
|
|
NM_000368.5(TSC1):c.9A>G (p.Gln3=)
|
rs1588363733
|
|