NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
0.00004
|
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)
|
rs45437797
|
0.00003
|
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)
|
rs137853999
|
0.00002
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NC_000016.10:g.(?_2076471)_(2085342_?)del
|
|
|
NC_000016.10:g.2055492_2070804dup
|
|
|
NC_000016.9:g.(?_2110665)_(2113060_?)del
|
|
|
NC_000016.9:g.(?_2131020)_(2133730_?)del
|
|
|
NC_000016.9:g.(?_2133686)_(2138611_?)del
|
|
|
NC_000016.9:g.(?_2135165)_(2138160_?)del
|
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1037T>A (p.Ile346Asn)
|
|
|
NM_000548.5(TSC2):c.1067_1068dup (p.Ala357fs)
|
|
|
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)
|
rs137854345
|
|
NM_000548.5(TSC2):c.1089del (p.Asn363fs)
|
|
|
NM_000548.5(TSC2):c.1090_1099del (p.Ile364fs)
|
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1098_1100del (p.Arg367del)
|
|
|
NM_000548.5(TSC2):c.1120-1del
|
rs2086678681
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1257+2T>C
|
rs45509697
|
|
NM_000548.5(TSC2):c.1257+2_1257+3del
|
rs1596303814
|
|
NM_000548.5(TSC2):c.1257+5G>A
|
rs2151157428
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000548.5(TSC2):c.1361+1G>T
|
rs45517164
|
|
NM_000548.5(TSC2):c.1361+2T>C
|
rs397515301
|
|
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)
|
rs45481199
|
|
NM_000548.5(TSC2):c.1443+5G>C
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1491del (p.Glu498fs)
|
rs137854346
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1523C>A (p.Ala508Asp)
|
|
|
NM_000548.5(TSC2):c.1565_1566del (p.His522fs)
|
rs1555502530
|
|
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)
|
rs397514922
|
|
NM_000548.5(TSC2):c.1659C>A (p.Tyr553Ter)
|
|
|
NM_000548.5(TSC2):c.1683_1685del (p.Thr562del)
|
|
|
NM_000548.5(TSC2):c.1717-115_1759del
|
rs2151275013
|
|
NM_000548.5(TSC2):c.1717-1G>A
|
rs45517192
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)
|
rs45517201
|
|
NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg)
|
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)
|
rs1567458244
|
|
NM_000548.5(TSC2):c.1840-2A>G
|
rs45517205
|
|
NM_000548.5(TSC2):c.1855_1863dup (p.Leu619_Leu621dup)
|
rs2088385424
|
|
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del)
|
rs397515195
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
NM_000548.5(TSC2):c.1866_1870dup (p.Asp624fs)
|
rs2088388374
|
|
NM_000548.5(TSC2):c.1945_1946+4del
|
rs2151299256
|
|
NM_000548.5(TSC2):c.1947-1G>T
|
rs397515310
|
|
NM_000548.5(TSC2):c.1947-2A>C
|
rs45517207
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2125G>T (p.Val709Phe)
|
rs1567467135
|
|
NM_000548.5(TSC2):c.2126T>G (p.Val709Gly)
|
|
|
NM_000548.5(TSC2):c.2170_2177del (p.Phe724fs)
|
|
|
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)
|
rs45517217
|
|
NM_000548.5(TSC2):c.225+1G>A
|
rs1567387207
|
|
NM_000548.5(TSC2):c.225+2T>C
|
rs397515105
|
|
NM_000548.5(TSC2):c.226-1G>A
|
rs397515134
|
|
NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu)
|
rs2088690950
|
|
NM_000548.5(TSC2):c.2265del (p.Gly756fs)
|
|
|
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)
|
rs2151328709
|
|
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
|
|
|
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)
|
rs137853995
|
|
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)
|
rs45489791
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.2469_2471del (p.Pro824del)
|
rs2088931795
|
|
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)
|
rs45517239
|
|
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2537del (p.Phe846fs)
|
|
|
NM_000548.5(TSC2):c.2545A>C (p.Thr849Pro)
|
|
|
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
NM_000548.5(TSC2):c.2599dup (p.Ser867fs)
|
|
|
NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp)
|
rs2089272680
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro)
|
rs397515054
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.2698T>G (p.Cys900Gly)
|
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2724dup (p.Val909fs)
|
|
|
NM_000548.5(TSC2):c.2726T>A (p.Val909Asp)
|
|
|
NM_000548.5(TSC2):c.2735T>C (p.Ile912Thr)
|
|
|
NM_000548.5(TSC2):c.2743-17_2744del
|
|
|
NM_000548.5(TSC2):c.2743-9C>G
|
rs397515319
|
|
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)
|
rs1555508929
|
|
NM_000548.5(TSC2):c.2772del (p.Phe924fs)
|
rs1555508938
|
|
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)
|
rs1555508942
|
|
NM_000548.5(TSC2):c.2837+1G>A
|
rs45517271
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.301_303dup (p.Val101_Leu102insVal)
|
|
|
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)
|
rs45438192
|
|
NM_000548.5(TSC2):c.3083A>T (p.Asp1028Val)
|
|
|
NM_000548.5(TSC2):c.3086T>G (p.Met1029Arg)
|
|
|
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg)
|
rs1567496821
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3096A>G (p.Arg1032=)
|
rs2089803859
|
|
NM_000548.5(TSC2):c.311T>C (p.Leu104Pro)
|
rs2085373985
|
|
NM_000548.5(TSC2):c.3127A>T (p.Lys1043Ter)
|
|
|
NM_000548.5(TSC2):c.3132-1G>C
|
rs45443096
|
|
NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro)
|
rs1060500947
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.3337del (p.Glu1113fs)
|
|
|
NM_000548.5(TSC2):c.335_336+14del
|
rs1596259720
|
|
NM_000548.5(TSC2):c.336+1G>T
|
|
|
NM_000548.5(TSC2):c.336+5G>C
|
rs1057523242
|
|
NM_000548.5(TSC2):c.3385dup (p.Arg1129fs)
|
|
|
NM_000548.5(TSC2):c.3398-1G>C
|
|
|
NM_000548.5(TSC2):c.3398-2A>G
|
rs2151455445
|
|
NM_000548.5(TSC2):c.3523dup (p.Val1175fs)
|
rs2151459858
|
|
NM_000548.5(TSC2):c.3598C>G (p.Arg1200Gly)
|
|
|
NM_000548.5(TSC2):c.3610+1G>T
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)
|
rs1555511663
|
|
NM_000548.5(TSC2):c.3611-1G>C
|
rs45517302
|
|
NM_000548.5(TSC2):c.3611-2A>G
|
rs397515169
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3616A>C (p.Thr1206Pro)
|
|
|
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)
|
rs1555512486
|
|
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
|
rs796053505
|
|
NM_000548.5(TSC2):c.3884-1G>T
|
rs137854079
|
|
NM_000548.5(TSC2):c.3G>A (p.Met1Ile)
|
rs397515208
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+2T>C
|
rs137854254
|
|
NM_000548.5(TSC2):c.4006-15_4048del
|
rs2090477253
|
|
NM_000548.5(TSC2):c.4006-1G>C
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
NM_000548.5(TSC2):c.4011del (p.Ser1338fs)
|
|
|
NM_000548.5(TSC2):c.4057del (p.Val1353fs)
|
|
|
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)
|
rs1555497690
|
|
NM_000548.5(TSC2):c.4410dup (p.Arg1471fs)
|
|
|
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)
|
rs45517344
|
|
NM_000548.5(TSC2):c.4493+1G>C
|
|
|
NM_000548.5(TSC2):c.4494-1G>A
|
rs45517346
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4508A>G (p.Gln1503Arg)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4569+1G>T
|
rs1060500972
|
|
NM_000548.5(TSC2):c.4569+2T>A
|
rs1555514984
|
|
NM_000548.5(TSC2):c.4569+2T>C
|
|
|
NM_000548.5(TSC2):c.4569+2T>G
|
rs1555514984
|
|
NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del)
|
rs2090626831
|
|
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
|
rs2090628516
|
|
NM_000548.5(TSC2):c.4645T>C (p.Tyr1549His)
|
rs45488595
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
NM_000548.5(TSC2):c.4662+1G>C
|
rs45514095
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4711T>C (p.Tyr1571His)
|
rs397514905
|
|
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)
|
rs45478894
|
|
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)
|
rs45503995
|
|
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)
|
rs137854203
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu)
|
|
|
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup)
|
rs1596439426
|
|
NM_000548.5(TSC2):c.482-1G>C
|
rs137854306
|
|
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg)
|
rs397515177
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro)
|
rs794727602
|
|
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg)
|
rs794727602
|
|
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4936G>T (p.Val1646Leu)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4951A>C (p.Asn1651His)
|
|
|
NM_000548.5(TSC2):c.4990-1G>A
|
rs1555439650
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5067_5068+8del
|
rs1567128655
|
|
NM_000548.5(TSC2):c.5068+43_5080del
|
|
|
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)
|
rs45517395
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp)
|
rs1373235682
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)
|
rs1596460606
|
|
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
|
rs2151631825
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)
|
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5259+1del
|
rs137854317
|
|
NM_000548.5(TSC2):c.5408_5409insG (p.Phe1803fs)
|
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
NM_000548.5(TSC2):c.551T>A (p.Val184Asp)
|
rs2085667006
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
NM_000548.5(TSC2):c.600-2A>G
|
rs45468592
|
|
NM_000548.5(TSC2):c.649-1G>A
|
rs794727906
|
|
NM_000548.5(TSC2):c.708_765del (p.Pro237fs)
|
rs2151079297
|
|
NM_000548.5(TSC2):c.728T>C (p.Leu243Pro)
|
|
|
NM_000548.5(TSC2):c.775-1G>A
|
rs45454192
|
|
NM_000548.5(TSC2):c.775-2A>G
|
|
|
NM_000548.5(TSC2):c.843G>T (p.Glu281Asp)
|
rs2151088094
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-1G>C
|
rs45506396
|
|
NM_000548.5(TSC2):c.875_876insTCGCGCCCCTGCT (p.Gly294fs)
|
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NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)
|
rs1596288578
|
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NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
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rs397515108
|
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NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
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rs397515097
|
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NM_000548.5(TSC2):c.975+1G>A
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rs137854200
|
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NM_000548.5(TSC2):c.976-207_1191del
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