NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000368.5(TSC1):c.*4248C>T
|
rs886063567
|
0.00018
|
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala)
|
rs893232039
|
0.00012
|
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)
|
rs781312535
|
0.00007
|
NM_000368.5(TSC1):c.1302A>G (p.Arg434=)
|
rs907840461
|
0.00007
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)
|
rs200514807
|
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.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=)
|
rs769266225
|
0.00004
|
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)
|
rs397514808
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)
|
rs939275328
|
0.00003
|
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)
|
rs1433723046
|
0.00003
|
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)
|
rs768443391
|
0.00003
|
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln)
|
rs755859330
|
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.1030-14T>A
|
rs180810228
|
0.00002
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu)
|
rs397514879
|
0.00002
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)
|
rs112066743
|
0.00002
|
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala)
|
rs745871522
|
0.00002
|
NM_000368.5(TSC1):c.720T>G (p.His240Gln)
|
rs779872953
|
0.00002
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
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.*2949A>T
|
rs886063588
|
0.00001
|
NM_000368.5(TSC1):c.*333C>A
|
rs886063618
|
0.00001
|
NM_000368.5(TSC1):c.*4845G>T
|
rs886063562
|
0.00001
|
NM_000368.5(TSC1):c.106+4A>G
|
rs373075566
|
0.00001
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala)
|
rs1412914051
|
0.00001
|
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys)
|
rs1309560054
|
0.00001
|
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala)
|
rs760638759
|
0.00001
|
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser)
|
rs367564729
|
0.00001
|
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val)
|
rs918660416
|
0.00001
|
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys)
|
rs143502728
|
0.00001
|
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe)
|
rs118203334
|
0.00001
|
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu)
|
rs1588321339
|
0.00001
|
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)
|
rs1060503218
|
0.00001
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro)
|
rs1845728007
|
0.00001
|
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val)
|
rs1554816420
|
0.00001
|
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
|
rs199800297
|
0.00001
|
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)
|
rs587778722
|
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.1562C>T (p.Ser521Leu)
|
rs759379027
|
0.00001
|
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg)
|
rs767708806
|
0.00001
|
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)
|
rs765149885
|
0.00001
|
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser)
|
rs1330089369
|
0.00001
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
NM_000368.5(TSC1):c.1779A>G (p.Arg593=)
|
rs964191879
|
0.00001
|
NM_000368.5(TSC1):c.1780G>A (p.Val594Met)
|
rs1845623814
|
0.00001
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
NM_000368.5(TSC1):c.1800G>C (p.Gln600His)
|
rs1254353359
|
0.00001
|
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)
|
rs1057522817
|
0.00001
|
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)
|
rs1343881428
|
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.1927A>G (p.Thr643Ala)
|
rs1485955306
|
0.00001
|
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)
|
rs914628341
|
0.00001
|
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)
|
rs1419720341
|
0.00001
|
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
|
rs748901883
|
0.00001
|
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)
|
rs200827913
|
0.00001
|
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)
|
rs760208449
|
0.00001
|
NM_000368.5(TSC1):c.2502+3A>G
|
rs1349115830
|
0.00001
|
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)
|
rs780115763
|
0.00001
|
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)
|
rs751362258
|
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.2975+6A>T
|
rs1060503220
|
0.00001
|
NM_000368.5(TSC1):c.2976-2A>G
|
rs1588288463
|
0.00001
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)
|
rs371879917
|
0.00001
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser)
|
rs1020905743
|
0.00001
|
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)
|
rs1313165721
|
0.00001
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)
|
rs587778726
|
0.00001
|
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)
|
rs755396992
|
0.00001
|
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)
|
rs1167362899
|
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.331C>T (p.Pro111Ser)
|
rs748669519
|
0.00001
|
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)
|
rs775420987
|
0.00001
|
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)
|
rs1249897804
|
0.00001
|
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)
|
rs751398082
|
0.00001
|
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)
|
rs764018144
|
0.00001
|
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser)
|
rs1060503227
|
0.00001
|
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)
|
rs767904247
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.364A>G (p.Met122Val)
|
rs1846685026
|
0.00001
|
NM_000368.5(TSC1):c.38T>C (p.Met13Thr)
|
rs1041071543
|
0.00001
|
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)
|
rs118203381
|
0.00001
|
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn)
|
rs1163879822
|
0.00001
|
NM_000368.5(TSC1):c.514G>A (p.Val172Met)
|
rs952813051
|
0.00001
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)
|
rs984306144
|
0.00001
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00001
|
NM_000368.5(TSC1):c.830T>C (p.Val277Ala)
|
rs200749357
|
0.00001
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn)
|
rs755195460
|
0.00001
|
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys)
|
rs1332978347
|
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.-8G>A
|
|
|
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)
|
rs1845955010
|
|
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val)
|
rs2131974315
|
|
NM_000368.5(TSC1):c.1022CAC[1] (p.Pro342del)
|
|
|
NM_000368.5(TSC1):c.1029+4T>C
|
rs772962741
|
|
NM_000368.5(TSC1):c.1030-5C>G
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1046C>T (p.Pro349Leu)
|
|
|
NM_000368.5(TSC1):c.1048T>C (p.Ser350Pro)
|
|
|
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)
|
rs796053447
|
|
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)
|
rs876660024
|
|
NM_000368.5(TSC1):c.106+5G>A
|
rs1554820973
|
|
NM_000368.5(TSC1):c.1063A>G (p.Met355Val)
|
rs1302832406
|
|
NM_000368.5(TSC1):c.1072C>A (p.Pro358Thr)
|
|
|
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser)
|
rs118203493
|
|
NM_000368.5(TSC1):c.108C>T (p.Asp36=)
|
rs886063624
|
|
NM_000368.5(TSC1):c.1113C>A (p.His371Gln)
|
rs771217333
|
|
NM_000368.5(TSC1):c.1142-11T>A
|
|
|
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
|
|
|
NM_000368.5(TSC1):c.1163T>G (p.Leu388Arg)
|
|
|
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup)
|
rs1845904104
|
|
NM_000368.5(TSC1):c.1194C>G (p.Ala398=)
|
rs1060504861
|
|
NM_000368.5(TSC1):c.1206T>A (p.His402Gln)
|
rs1845902050
|
|
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val)
|
rs1554817130
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.1225A>G (p.Ile409Val)
|
|
|
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
|
|
|
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr)
|
rs2131939930
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1263+4C>T
|
rs1554817077
|
|
NM_000368.5(TSC1):c.1264-12T>G
|
|
|
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)
|
rs762688935
|
|
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg)
|
rs2131880323
|
|
NM_000368.5(TSC1):c.1309C>G (p.His437Asp)
|
rs985183299
|
|
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr)
|
rs985183299
|
|
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser)
|
rs1399266964
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala)
|
rs1588313030
|
|
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu)
|
rs772868048
|
|
NM_000368.5(TSC1):c.135G>T (p.Leu45Phe)
|
|
|
NM_000368.5(TSC1):c.1439-15C>G
|
|
|
NM_000368.5(TSC1):c.1439-20_1439-9del
|
rs1064792996
|
|
NM_000368.5(TSC1):c.1439-7C>A
|
rs1588311354
|
|
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del)
|
rs1554816071
|
|
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile)
|
rs1564482593
|
|
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val)
|
|
|
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys)
|
rs1845656110
|
|
NM_000368.5(TSC1):c.1489G>A (p.Val497Met)
|
rs946491568
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr)
|
|
|
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser)
|
rs776633158
|
|
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser)
|
rs1554815946
|
|
NM_000368.5(TSC1):c.170C>T (p.Ala57Val)
|
|
|
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala)
|
rs1454859974
|
|
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys)
|
rs118203570
|
|
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)
|
rs1429666367
|
|
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)
|
rs1554815795
|
|
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile)
|
rs1588308884
|
|
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)
|
|
|
NM_000368.5(TSC1):c.185C>T (p.Thr62Ile)
|
|
|
NM_000368.5(TSC1):c.1874A>G (p.Glu625Gly)
|
|
|
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)
|
rs1269162063
|
|
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)
|
rs1588308288
|
|
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala)
|
rs1554815701
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1997+6_1997+7del
|
|
|
NM_000368.5(TSC1):c.1998-7T>G
|
rs1845549017
|
|
NM_000368.5(TSC1):c.1998-8C>G
|
|
|
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr)
|
|
|
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile)
|
rs1845544758
|
|
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
|
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys)
|
rs919177189
|
|
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly)
|
rs1846914861
|
|
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu)
|
rs1845501093
|
|
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp)
|
rs1564478519
|
|
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe)
|
rs759183842
|
|
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln)
|
rs1060503207
|
|
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly)
|
rs763357144
|
|
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2166G>T (p.Lys722Asn)
|
|
|
NM_000368.5(TSC1):c.2233A>G (p.Lys745Glu)
|
|
|
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr)
|
rs786203007
|
|
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln)
|
rs1845453569
|
|
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)
|
rs397514783
|
|
NM_000368.5(TSC1):c.2326C>A (p.His776Asn)
|
|
|
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys)
|
rs781371665
|
|
NM_000368.5(TSC1):c.2391G>T (p.Gln797His)
|
|
|
NM_000368.5(TSC1):c.239T>C (p.Val80Ala)
|
|
|
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2458_2460del (p.Lys820del)
|
|
|
NM_000368.5(TSC1):c.2503-11T>A
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-11T>G
|
rs201568350
|
|
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser)
|
|
|
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg)
|
rs786203259
|
|
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro)
|
|
|
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys)
|
rs1463772907
|
|
NM_000368.5(TSC1):c.2597T>G (p.Leu866Arg)
|
|
|
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn)
|
rs746607455
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-2dup
|
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTA
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTG
|
|
|
NM_000368.5(TSC1):c.2626-3del
|
rs886063622
|
|
NM_000368.5(TSC1):c.2626-4_2626-3dup
|
rs1554813638
|
|
NM_000368.5(TSC1):c.2626-4_2626-3insTTTTTTTTTTTTTTTTTTTTTAATTAATTATTCTAGTTTT
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-6_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-7_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
|
|
|
NM_000368.5(TSC1):c.2681A>G (p.His894Arg)
|
rs1588290830
|
|
NM_000368.5(TSC1):c.2722C>A (p.Arg908=)
|
|
|
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu)
|
rs766871150
|
|
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys)
|
rs1249697208
|
|
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg)
|
rs1564471685
|
|
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)
|
rs751362258
|
|
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)
|
|
|
NM_000368.5(TSC1):c.2851C>A (p.Gln951Lys)
|
|
|
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu)
|
rs138541569
|
|
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1])
|
rs767902029
|
|
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)
|
|
|
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe)
|
rs1177810382
|
|
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)
|
rs1554813029
|
|
NM_000368.5(TSC1):c.2987G>C (p.Cys996Ser)
|
|
|
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp)
|
rs552217429
|
|
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe)
|
rs1554812991
|
|
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile)
|
rs751970451
|
|
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=)
|
|
|
NM_000368.5(TSC1):c.3018G>T (p.Gly1006=)
|
|
|
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser)
|
|
|
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu)
|
rs1317622700
|
|
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg)
|
rs1845082733
|
|
NM_000368.5(TSC1):c.3063del (p.Arg1022fs)
|
rs2131612319
|
|
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser)
|
rs138445573
|
|
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn)
|
rs1845081620
|
|
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)
|
rs533565295
|
|
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
|
|
|
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg)
|
rs1588287655
|
|
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn)
|
rs1060503196
|
|
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly)
|
rs2131606041
|
|
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu)
|
|
|
NM_000368.5(TSC1):c.3158A>C (p.His1053Pro)
|
|
|
NM_000368.5(TSC1):c.3193A>G (p.Thr1065Ala)
|
|
|
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys)
|
rs1845061706
|
|
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val)
|
rs779369226
|
|
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly)
|
rs1845059319
|
|
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser)
|
rs2131600316
|
|
NM_000368.5(TSC1):c.3242T>A (p.Leu1081His)
|
|
|
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)
|
rs1060503191
|
|
NM_000368.5(TSC1):c.3257G>A (p.Ser1086Asn)
|
|
|
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)
|
rs1845053380
|
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
|
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=)
|
rs2131589934
|
|
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser)
|
rs2131589157
|
|
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu)
|
|
|
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)
|
rs796053451
|
|
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro)
|
rs1216169846
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe)
|
rs1554820265
|
|
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)
|
rs397514784
|
|
NM_000368.5(TSC1):c.39G>A (p.Met13Ile)
|
rs2132296041
|
|
NM_000368.5(TSC1):c.3G>A (p.Met1Ile)
|
|
|
NM_000368.5(TSC1):c.403G>T (p.Val135Leu)
|
|
|
NM_000368.5(TSC1):c.415A>G (p.Met139Val)
|
|
|
NM_000368.5(TSC1):c.425T>C (p.Met142Thr)
|
rs886042190
|
|
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn)
|
rs1554821020
|
|
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe)
|
rs774900322
|
|
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
|
rs397515294
|
|
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)
|
rs940292214
|
|
NM_000368.5(TSC1):c.553T>G (p.Tyr185Asp)
|
|
|
NM_000368.5(TSC1):c.571C>G (p.Leu191Val)
|
|
|
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp)
|
rs904190788
|
|
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)
|
rs1223799508
|
|
NM_000368.5(TSC1):c.771C>A (p.Ile257=)
|
rs1060504854
|
|
NM_000368.5(TSC1):c.83T>A (p.Val28Asp)
|
|
|
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala)
|
|
|
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu)
|
rs151309813
|
|
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser)
|
rs1047485135
|
|
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
|
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg)
|
rs1389512342
|
|
NM_000368.5(TSC1):c.91G>C (p.Glu31Gln)
|
rs1847032440
|
|
NM_000368.5(TSC1):c.929C>G (p.Thr310Ser)
|
|
|
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser)
|
rs1222555421
|
|
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg)
|
rs1564488890
|
|
NM_000368.5(TSC1):c.975G>T (p.Gln325His)
|
rs1554817398
|
|
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)
|
rs1847031671
|
|