NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)
|
rs45517340
|
0.00003
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile)
|
rs745895675
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2098168-2100457)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:2114273-2122984)x1
|
|
|
NC_000016.10:g.(?_2048587)_(2065635_?)del
|
|
|
NC_000016.10:g.(?_2048596)_(2048773_?)del
|
|
|
NC_000016.10:g.(?_2048596)_(2074415_?)del
|
|
|
NC_000016.10:g.(?_2048610)_(2088616_?)del
|
|
|
NC_000016.10:g.(?_2050390)_(2050496_?)del
|
|
|
NC_000016.10:g.(?_2053322)_(2057459_?)del
|
|
|
NC_000016.10:g.(?_2053342)_(2060813_?)del
|
|
|
NC_000016.10:g.(?_2056176)_(2064447_?)del
|
|
|
NC_000016.10:g.(?_2056176)_(2074415_?)del
|
|
|
NC_000016.10:g.(?_2070436)_(2080397_?)dup
|
|
|
NC_000016.10:g.(?_2081589)_(2088616_?)del
|
|
|
NC_000016.10:g.2056989_2074645del
|
|
|
NC_000016.10:g.2072241_2072247dup
|
rs2151315345
|
|
NC_000016.10:g.2074199_2088611dup
|
|
|
NC_000016.10:g.2077825_2088543del
|
|
|
NC_000016.9:g.(?_2025180)_2130380del
|
|
|
NC_000016.9:g.(?_2097990)_(2138611_?)del
|
|
|
NC_000016.9:g.(?_2098597)_(2103473_?)del
|
|
|
NC_000016.9:g.(?_2098597)_(2108894_?)del
|
|
|
NC_000016.9:g.(?_2098597)_(2130398_?)del
|
|
|
NC_000016.9:g.(?_2098645)_(2130379_2131595)del
|
|
|
NC_000016.9:g.(?_2100381)_(2100507_?)del
|
|
|
NC_000016.9:g.(?_2100381)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2103323)_(2115656_?)del
|
|
|
NC_000016.9:g.(?_2103337)_(2110820_?)del
|
|
|
NC_000016.9:g.(?_2105383)_(2124410_?)del
|
|
|
NC_000016.9:g.(?_2106344)_(2107114_?)del
|
|
|
NC_000016.9:g.(?_2108728)_(2108894_?)del
|
|
|
NC_000016.9:g.(?_2108728)_(2120599_?)del
|
|
|
NC_000016.9:g.(?_2110149)_(2112548_?)del
|
|
|
NC_000016.9:g.(?_2110651)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2110651)_(2135343_?)dup
|
|
|
NC_000016.9:g.(?_2112478)_(2115656_?)del
|
|
|
NC_000016.9:g.(?_2112953)_(2113074_?)del
|
|
|
NC_000016.9:g.(?_2115510)_(2115646_?)del
|
|
|
NC_000016.9:g.(?_2120437)_(2123004_?)del
|
|
|
NC_000016.9:g.(?_2122222)_(2127477_?)del
|
|
|
NC_000016.9:g.(?_2124181)_(2135047_?)dup
|
|
|
NC_000016.9:g.(?_2124181)_(2138611_?)del
|
|
|
NC_000016.9:g.(?_2127477)_(2135343_?)del
|
|
|
NC_000016.9:g.(?_2127829)_(2134379_?)del
|
|
|
NC_000016.9:g.(?_2129819)_(2134377_?)del
|
|
|
NC_000016.9:g.(?_2134223)_(2136878_?)del
|
|
|
NC_000016.9:g.(?_2134307)_(2137196_?)del
|
|
|
NC_000016.9:g.(?_2137518)_(2138586_?)del
|
|
|
NM_000548.3(TSC2):c.1600-?_1716+?del
|
|
|
NM_000548.3(TSC2):c.1948delG
|
rs1596343922
|
|
NM_000548.5(TSC2):c.1047dup (p.Arg350Ter)
|
rs1555500535
|
|
NM_000548.5(TSC2):c.104_108dup (p.Glu37fs)
|
|
|
NM_000548.5(TSC2):c.1051_1052insGGCCGGGCGCGGTGGCTCGCGCCTGTAGTCCCAGCTCTTAGGGAGGCCGAGGCAGGAGGATCTAGAGTACAGGAGAACCGGAGCATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTATAGGA (p.Lys351delinsArgProGlyAlaValAlaArgAlaCysSerProSerSerTer)
|
|
|
NM_000548.5(TSC2):c.105_106del (p.Gln35fs)
|
rs2084681207
|
|
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)
|
rs45469896
|
|
NM_000548.5(TSC2):c.1061_1068dup (p.Ala357fs)
|
|
|
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter)
|
rs1229561585
|
|
NM_000548.5(TSC2):c.107_108insCTGGTAAAC (p.Thr36_Glu37insTrpTer)
|
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.109G>T (p.Glu37Ter)
|
|
|
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)
|
rs1596298721
|
|
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)
|
rs45469099
|
|
NM_000548.5(TSC2):c.1119+129G>T
|
rs1001221917
|
|
NM_000548.5(TSC2):c.1119+1G>C
|
rs45475793
|
|
NM_000548.5(TSC2):c.1126_1135del (p.Asp376fs)
|
|
|
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)
|
rs2086680808
|
|
NM_000548.5(TSC2):c.113_114dup (p.Ile39fs)
|
rs137854355
|
|
NM_000548.5(TSC2):c.1145_1146del (p.Thr382fs)
|
rs1567428094
|
|
NM_000548.5(TSC2):c.1149del (p.Ile383fs)
|
|
|
NM_000548.5(TSC2):c.114_115insC (p.Ile39fs)
|
rs2084683129
|
|
NM_000548.5(TSC2):c.1160dup (p.Leu388fs)
|
rs878854075
|
|
NM_000548.5(TSC2):c.116_123dup (p.Ala42fs)
|
|
|
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)
|
rs2086689358
|
|
NM_000548.5(TSC2):c.1189C>T (p.Gln397Ter)
|
|
|
NM_000548.5(TSC2):c.1194del (p.Asn398fs)
|
rs886039736
|
|
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)
|
rs773920155
|
|
NM_000548.5(TSC2):c.1206del (p.Ser403fs)
|
rs2151155973
|
|
NM_000548.5(TSC2):c.120del (p.Thr41fs)
|
rs397515085
|
|
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)
|
rs45457701
|
|
NM_000548.5(TSC2):c.1213G>T (p.Glu405Ter)
|
|
|
NM_000548.5(TSC2):c.1217_1218del (p.Arg406fs)
|
rs2151156291
|
|
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del)
|
rs137853998
|
|
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
|
|
|
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)
|
rs137854127
|
|
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)
|
rs1057523509
|
|
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)
|
rs45517158
|
|
NM_000548.5(TSC2):c.1252_1253del (p.Arg418fs)
|
rs2086699971
|
|
NM_000548.5(TSC2):c.1254del (p.Arg418fs)
|
|
|
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)
|
rs45517159
|
|
NM_000548.5(TSC2):c.1257+1G>A
|
rs397515066
|
|
NM_000548.5(TSC2):c.1257+1G>C
|
rs397515066
|
|
NM_000548.5(TSC2):c.1257+2T>C
|
rs45509697
|
|
NM_000548.5(TSC2):c.1257+2T>G
|
rs45509697
|
|
NM_000548.5(TSC2):c.1257dup (p.Glu420Ter)
|
|
|
NM_000548.5(TSC2):c.1258-2A>G
|
rs45517160
|
|
NM_000548.5(TSC2):c.1258-96_1362del
|
rs2151161634
|
|
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)
|
rs796053484
|
|
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer)
|
rs2086765953
|
|
NM_000548.5(TSC2):c.1276del (p.Asn425_Leu426insTer)
|
rs2086767947
|
|
NM_000548.5(TSC2):c.1282del (p.Ser428fs)
|
rs1555501373
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter)
|
rs45493394
|
|
NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter)
|
rs1114167462
|
|
NM_000548.5(TSC2):c.131_132del (p.Ile44fs)
|
rs1064793853
|
|
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)
|
rs45515894
|
|
NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter)
|
rs2151164702
|
|
NM_000548.5(TSC2):c.132dup (p.Leu45fs)
|
rs2150973810
|
|
NM_000548.5(TSC2):c.1334dup (p.Gln446fs)
|
rs2086777094
|
|
NM_000548.5(TSC2):c.1337dup (p.Ala447fs)
|
rs2039161082
|
|
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)
|
rs137854360
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter)
|
rs45491095
|
|
NM_000548.5(TSC2):c.134_138+1delinsC
|
rs1057518535
|
|
NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs)
|
rs397515082
|
|
NM_000548.5(TSC2):c.1358_1359delinsAA (p.Phe453Ter)
|
rs2151165414
|
|
NM_000548.5(TSC2):c.1358_1361+14del
|
|
|
NM_000548.5(TSC2):c.1361+1G>A
|
rs45517164
|
|
NM_000548.5(TSC2):c.1361+1G>T
|
rs45517164
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-1G>A
|
|
|
NM_000548.5(TSC2):c.1362-2A>G
|
rs45517165
|
|
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)
|
rs137854266
|
|
NM_000548.5(TSC2):c.136_138+1del
|
rs137854117
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.138+2T>C
|
rs137854226
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.138+5G>C
|
rs45481400
|
|
NM_000548.5(TSC2):c.1380_1386del (p.Val461fs)
|
rs2151171193
|
|
NM_000548.5(TSC2):c.1381del (p.Val461fs)
|
|
|
NM_000548.5(TSC2):c.1386dup (p.Ile463fs)
|
rs1596307300
|
|
NM_000548.5(TSC2):c.1388dup (p.Lys464fs)
|
rs2086826069
|
|
NM_000548.5(TSC2):c.138_138+1del
|
rs137854117
|
|
NM_000548.5(TSC2):c.139-1G>A
|
rs1567386603
|
|
NM_000548.5(TSC2):c.139-2A>G
|
rs2084954667
|
|
NM_000548.5(TSC2):c.1399dup (p.Asp467fs)
|
|
|
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter)
|
rs1555495676
|
|
NM_000548.5(TSC2):c.13del (p.Thr5fs)
|
rs2084669441
|
|
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)
|
rs121964862
|
|
NM_000548.5(TSC2):c.1437_1438delinsG (p.Phe479fs)
|
|
|
NM_000548.5(TSC2):c.1439_1440del (p.Phe479_Tyr480insTer)
|
|
|
NM_000548.5(TSC2):c.1443+1G>A
|
|
|
NM_000548.5(TSC2):c.1443+1G>T
|
rs397515257
|
|
NM_000548.5(TSC2):c.1443+2T>A
|
rs397515064
|
|
NM_000548.5(TSC2):c.1443+2T>C
|
|
|
NM_000548.5(TSC2):c.1444-1G>A
|
rs45515902
|
|
NM_000548.5(TSC2):c.1444-2A>G
|
rs45517174
|
|
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1458del (p.Ser487fs)
|
rs1567437155
|
|
NM_000548.5(TSC2):c.1470del (p.Ser491fs)
|
rs2151188797
|
|
NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter)
|
rs1060500931
|
|
NM_000548.5(TSC2):c.1487del (p.Ile496fs)
|
rs2087013746
|
|
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)
|
rs45517178
|
|
NM_000548.5(TSC2):c.1502del (p.Asp501fs)
|
rs1567437492
|
|
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1528C>T (p.Gln510Ter)
|
|
|
NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs)
|
rs796053503
|
|
NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter)
|
rs1555502518
|
|
NM_000548.5(TSC2):c.1563_1566del (p.His522fs)
|
|
|
NM_000548.5(TSC2):c.1563_1599+94del
|
rs2087026946
|
|
NM_000548.5(TSC2):c.1563dup (p.His522fs)
|
rs137854023
|
|
NM_000548.5(TSC2):c.1565_1566dup (p.His523fs)
|
rs1555502530
|
|
NM_000548.5(TSC2):c.1582del (p.Leu528fs)
|
rs1060499647
|
|
NM_000548.5(TSC2):c.1583dup (p.Asp529fs)
|
rs2087032456
|
|
NM_000548.5(TSC2):c.1597_1599del (p.Lys533del)
|
rs1596312554
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+2T>C
|
rs45517183
|
|
NM_000548.5(TSC2):c.1599+2T>G
|
|
|
NM_000548.5(TSC2):c.1599+4A>C
|
rs2151192256
|
|
NM_000548.5(TSC2):c.1599+5G>A
|
rs397515100
|
|
NM_000548.5(TSC2):c.1600-1G>C
|
|
|
NM_000548.5(TSC2):c.1600-2A>G
|
rs1114167466
|
|
NM_000548.5(TSC2):c.1609dup (p.Arg537fs)
|
rs1555503131
|
|
NM_000548.5(TSC2):c.160_161delinsG (p.Leu54fs)
|
|
|
NM_000548.5(TSC2):c.1610_1617dup (p.Ser540fs)
|
rs2087224465
|
|
NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs)
|
rs397515148
|
|
NM_000548.5(TSC2):c.1628del (p.Pro543fs)
|
rs397515204
|
|
NM_000548.5(TSC2):c.1628dup (p.Glu544fs)
|
rs397515204
|
|
NM_000548.5(TSC2):c.1636G>T (p.Glu546Ter)
|
rs2087230941
|
|
NM_000548.5(TSC2):c.1659C>G (p.Tyr553Ter)
|
|
|
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)
|
rs45471596
|
|
NM_000548.5(TSC2):c.16dup (p.Ser6fs)
|
rs2150970014
|
|
NM_000548.5(TSC2):c.1714C>T (p.Gln572Ter)
|
rs2087242404
|
|
NM_000548.5(TSC2):c.1716+1G>A
|
rs45517190
|
|
NM_000548.5(TSC2):c.1716+5G>C
|
rs1596317714
|
|
NM_000548.5(TSC2):c.1717-12CT[2]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1717-1G>A
|
rs45517192
|
|
NM_000548.5(TSC2):c.1717-2A>C
|
rs1596335963
|
|
NM_000548.5(TSC2):c.1720A>T (p.Lys574Ter)
|
rs2088115626
|
|
NM_000548.5(TSC2):c.1732dup (p.Leu578fs)
|
rs2151278146
|
|
NM_000548.5(TSC2):c.1739_1740insT (p.Ser581fs)
|
rs2088122285
|
|
NM_000548.5(TSC2):c.1741_1745dup (p.His582fs)
|
rs2151278476
|
|
NM_000548.5(TSC2):c.1741_1839+182del
|
|
|
NM_000548.5(TSC2):c.1749_1753dup (p.Arg585fs)
|
rs1567457100
|
|
NM_000548.5(TSC2):c.1753_1754del (p.Arg585fs)
|
|
|
NM_000548.5(TSC2):c.1758_1759del (p.Val586_Tyr587insTer)
|
rs397515116
|
|
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer)
|
rs137854371
|
|
NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter)
|
rs753179817
|
|
NM_000548.5(TSC2):c.1762G>T (p.Glu588Ter)
|
rs1596336374
|
|
NM_000548.5(TSC2):c.1764_1765del (p.Glu588fs)
|
rs1555505103
|
|
NM_000548.5(TSC2):c.1768_1769delinsG (p.Leu590fs)
|
rs1596336436
|
|
NM_000548.5(TSC2):c.1769_1776del (p.Leu590fs)
|
rs2151279634
|
|
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)
|
rs45517199
|
|
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr)
|
rs397515246
|
|
NM_000548.5(TSC2):c.1789dup (p.His597fs)
|
|
|
NM_000548.5(TSC2):c.1790A>G (p.His597Arg)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1791del (p.Tyr598fs)
|
|
|
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)
|
rs45509094
|
|
NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter)
|
rs367553206
|
|
NM_000548.5(TSC2):c.1817del (p.Ile606fs)
|
|
|
NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1839+1G>T
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+2T>C
|
rs1555505211
|
|
NM_000548.5(TSC2):c.1839G>C (p.Gln613His)
|
rs1555505208
|
|
NM_000548.5(TSC2):c.1840-1G>A
|
rs397514953
|
|
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA
|
rs1555505742
|
|
NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro)
|
rs397515199
|
|
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)
|
rs45454398
|
|
NM_000548.5(TSC2):c.1845del (p.Phe615fs)
|
rs137854248
|
|
NM_000548.5(TSC2):c.1852del (p.Leu618fs)
|
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.1869del (p.Asp624fs)
|
|
|
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs)
|
rs397515073
|
|
NM_000548.5(TSC2):c.1881_1882del (p.His627fs)
|
rs2151297228
|
|
NM_000548.5(TSC2):c.1910_1931dup (p.Val645fs)
|
|
|
NM_000548.5(TSC2):c.1912_1924del (p.Val638fs)
|
|
|
NM_000548.5(TSC2):c.1929C>A (p.Tyr643Ter)
|
rs368710573
|
|
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter)
|
rs368710573
|
|
NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly)
|
rs1567462577
|
|
NM_000548.5(TSC2):c.1932C>A (p.Cys644Ter)
|
|
|
NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter)
|
rs745414854
|
|
NM_000548.5(TSC2):c.1946+1G>A
|
rs397514994
|
|
NM_000548.5(TSC2):c.1946+1G>T
|
rs397514994
|
|
NM_000548.5(TSC2):c.1946+2T>A
|
rs397515247
|
|
NM_000548.5(TSC2):c.1948G>T (p.Glu650Ter)
|
rs2151303613
|
|
NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter)
|
rs1555505954
|
|
NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter)
|
rs764225717
|
|
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.1961del (p.Gly654fs)
|
|
|
NM_000548.5(TSC2):c.1981_2020del (p.Gly661fs)
|
rs2088453139
|
|
NM_000548.5(TSC2):c.1987_1988del (p.Leu663fs)
|
rs1596344279
|
|
NM_000548.5(TSC2):c.1987del (p.Leu663fs)
|
rs137854310
|
|
NM_000548.5(TSC2):c.1990del (p.Ser664fs)
|
|
|
NM_000548.5(TSC2):c.2009del (p.Pro670fs)
|
rs1060500934
|
|
NM_000548.5(TSC2):c.2015dup (p.Ala673fs)
|
|
|
NM_000548.5(TSC2):c.2021_2356-115delinsTAAGCACTTAGTCTCCT
|
|
|
NM_000548.5(TSC2):c.2024_2034del (p.Ala675fs)
|
rs2151306395
|
|
NM_000548.5(TSC2):c.2046del (p.Ser683fs)
|
rs397515287
|
|
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs)
|
rs137854337
|
|
NM_000548.5(TSC2):c.2057_2078dup (p.Gln695fs)
|
rs2088476977
|
|
NM_000548.5(TSC2):c.2058C>A (p.Tyr686Ter)
|
rs1186913814
|
|
NM_000548.5(TSC2):c.2067_2068del (p.Phe690fs)
|
rs1064793524
|
|
NM_000548.5(TSC2):c.2071del (p.Arg691fs)
|
rs137854071
|
|
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter)
|
rs45517209
|
|
NM_000548.5(TSC2):c.2086_2089delinsCG (p.Cys696fs)
|
rs1555506201
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.208del (p.Thr70fs)
|
|
|
NM_000548.5(TSC2):c.2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)
|
rs45517210
|
|
NM_000548.5(TSC2):c.2098-1G>A
|
rs45517212
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2098-2A>T
|
rs45501596
|
|
NM_000548.5(TSC2):c.2098G>T (p.Glu700Ter)
|
|
|
NM_000548.5(TSC2):c.20_21del (p.Lys7fs)
|
rs137854019
|
|
NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer)
|
rs1555506395
|
|
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs)
|
rs886041563
|
|
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)
|
rs45517213
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2113del (p.Val705fs)
|
rs1555506428
|
|
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)
|
rs45517214
|
|
NM_000548.5(TSC2):c.2157T>G (p.Tyr719Ter)
|
rs902456479
|
|
NM_000548.5(TSC2):c.2158A>T (p.Lys720Ter)
|
rs1195091149
|
|
NM_000548.5(TSC2):c.2160del (p.Val721fs)
|
rs2151317705
|
|
NM_000548.5(TSC2):c.2166dup (p.Ile723fs)
|
rs2151318037
|
|
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs)
|
rs137854216
|
|
NM_000548.5(TSC2):c.2180del (p.Pro727fs)
|
rs2088578781
|
|
NM_000548.5(TSC2):c.2180dup (p.Cys728fs)
|
|
|
NM_000548.5(TSC2):c.2184C>A (p.Cys728Ter)
|
rs1555506557
|
|
NM_000548.5(TSC2):c.2191del (p.Asp731fs)
|
rs2151318827
|
|
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)
|
rs397515163
|
|
NM_000548.5(TSC2):c.21del (p.Asp8fs)
|
rs137854019
|
|
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs)
|
rs137854247
|
|
NM_000548.5(TSC2):c.220G>T (p.Glu74Ter)
|
|
|
NM_000548.5(TSC2):c.2220+1G>T
|
rs137854361
|
|
NM_000548.5(TSC2):c.2220+2T>C
|
rs397515121
|
|
NM_000548.5(TSC2):c.2221-1G>A
|
rs45517218
|
|
NM_000548.5(TSC2):c.2221-2A>G
|
rs45502196
|
|
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter)
|
rs45517220
|
|
NM_000548.5(TSC2):c.2231del (p.Pro744fs)
|
rs397515218
|
|
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs)
|
rs137854006
|
|
NM_000548.5(TSC2):c.225+1G>A
|
rs1567387207
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.226-1G>A
|
rs397515134
|
|
NM_000548.5(TSC2):c.226-2A>G
|
rs45517096
|
|
NM_000548.5(TSC2):c.2261del (p.Pro754fs)
|
rs137854021
|
|
NM_000548.5(TSC2):c.2262dup (p.Glu755fs)
|
rs2151327153
|
|
NM_000548.5(TSC2):c.2265_2268del (p.Glu755fs)
|
|
|
NM_000548.5(TSC2):c.226_228delinsTAA (p.His76Ter)
|
|
|
NM_000548.5(TSC2):c.2285T>A (p.Leu762Ter)
|
rs2151327516
|
|
NM_000548.5(TSC2):c.22del (p.Asp8fs)
|
rs2150970257
|
|
NM_000548.5(TSC2):c.2309_2315del (p.Leu770fs)
|
|
|
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2331_2344del (p.His777fs)
|
rs2088702417
|
|
NM_000548.5(TSC2):c.2349del (p.Lys784fs)
|
|
|
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)
|
rs751172150
|
|
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)
|
rs45517226
|
|
NM_000548.5(TSC2):c.2354_2355insC (p.Gln785fs)
|
rs1596350698
|
|
NM_000548.5(TSC2):c.2355+1G>A
|
rs45517227
|
|
NM_000548.5(TSC2):c.2355+2T>C
|
rs45517228
|
|
NM_000548.5(TSC2):c.2355+2T>G
|
rs45517228
|
|
NM_000548.5(TSC2):c.2355+2_2355+5del
|
rs137854250
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-1G>C
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-1G>T
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-2A>C
|
rs45517229
|
|
NM_000548.5(TSC2):c.2358_2359del (p.Glu787Aspfs)
|
rs1555507462
|
|
NM_000548.5(TSC2):c.2362_2363dup (p.Met788fs)
|
rs2151346636
|
|
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter)
|
rs1596356248
|
|
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter)
|
rs45517233
|
|
NM_000548.5(TSC2):c.2384dup (p.Leu796fs)
|
rs2151347763
|
|
NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs)
|
rs1114167463
|
|
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)
|
rs45517234
|
|
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)
|
rs137853995
|
|
NM_000548.5(TSC2):c.2411_2412delinsAA (p.Cys804Ter)
|
rs2151349354
|
|
NM_000548.5(TSC2):c.2412C>A (p.Cys804Ter)
|
rs763123951
|
|
NM_000548.5(TSC2):c.2429_2461delinsC (p.Ile810fs)
|
rs878854082
|
|
NM_000548.5(TSC2):c.2435_2545+153delinsTC
|
|
|
NM_000548.5(TSC2):c.2436del (p.Ser812fs)
|
|
|
NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter)
|
rs45485395
|
|
NM_000548.5(TSC2):c.2445dup (p.Pro816fs)
|
rs2151351558
|
|
NM_000548.5(TSC2):c.2452dup (p.Ile818fs)
|
rs2088927807
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)
|
rs397514933
|
|
NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)
|
rs1567394860
|
|
NM_000548.5(TSC2):c.2475_2503del (p.Leu826fs)
|
rs2088933078
|
|
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs)
|
rs1555507612
|
|
NM_000548.5(TSC2):c.248del (p.Lys83fs)
|
|
|
NM_000548.5(TSC2):c.2491dup (p.Thr831fs)
|
rs1555507623
|
|
NM_000548.5(TSC2):c.2492dup (p.His832fs)
|
rs2088938668
|
|
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter)
|
rs1596356898
|
|
NM_000548.5(TSC2):c.2525del (p.Pro842fs)
|
rs137854375
|
|
NM_000548.5(TSC2):c.252_304del (p.Val85fs)
|
|
|
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2539_2540del (p.Leu847fs)
|
rs1060500938
|
|
NM_000548.5(TSC2):c.2539del (p.Leu847fs)
|
rs137854140
|
|
NM_000548.5(TSC2):c.2545+1G>A
|
|
|
NM_000548.5(TSC2):c.2545+2T>C
|
rs397515262
|
|
NM_000548.5(TSC2):c.2546-1G>A
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-1G>C
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-2A>G
|
rs45517246
|
|
NM_000548.5(TSC2):c.2546-313_2967-376del
|
|
|
NM_000548.5(TSC2):c.2548del (p.Leu850fs)
|
rs2089256835
|
|
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
NM_000548.5(TSC2):c.2562_2566del (p.His855fs)
|
rs2151380036
|
|
NM_000548.5(TSC2):c.2566_2567insG (p.Leu856fs)
|
rs2089261042
|
|
NM_000548.5(TSC2):c.2574del (p.Asn859fs)
|
|
|
NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs)
|
rs886042032
|
|
NM_000548.5(TSC2):c.2587G>T (p.Glu863Ter)
|
|
|
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)
|
rs45517250
|
|
NM_000548.5(TSC2):c.2616_2617delinsG (p.Leu873fs)
|
rs2089270984
|
|
NM_000548.5(TSC2):c.2623dup (p.Tyr875fs)
|
|
|
NM_000548.5(TSC2):c.2633_2639+1del
|
|
|
NM_000548.5(TSC2):c.2634del (p.Ser879fs)
|
|
|
NM_000548.5(TSC2):c.2637dup (p.Lys880fs)
|
|
|
NM_000548.5(TSC2):c.2639+1G>A
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+1G>C
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT
|
rs2089276880
|
|
NM_000548.5(TSC2):c.2640-1G>A
|
rs397515203
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2649_2651dup (p.Tyr884Ter)
|
|
|
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs)
|
rs137854232
|
|
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter)
|
rs45475594
|
|
NM_000548.5(TSC2):c.2661_2664del (p.Cys887fs)
|
rs1060500914
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.2678_2679del (p.Ile893fs)
|
|
|
NM_000548.5(TSC2):c.267_268delinsTT (p.Leu89_Gln90delinsPheTer)
|
|
|
NM_000548.5(TSC2):c.2687_2690dup (p.Phe897fs)
|
rs2151387560
|
|
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter)
|
rs397514913
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser)
|
rs45517255
|
|
NM_000548.5(TSC2):c.2690del (p.Phe897fs)
|
|
|
NM_000548.5(TSC2):c.2699G>A (p.Cys900Tyr)
|
rs2089323124
|
|
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)
|
rs397515228
|
|
NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter)
|
rs45517257
|
|
NM_000548.5(TSC2):c.2702dup (p.Leu902fs)
|
|
|
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2729_2733del (p.Pro910fs)
|
|
|
NM_000548.5(TSC2):c.2732del (p.Phe911fs)
|
|
|
NM_000548.5(TSC2):c.2733del (p.Phe911fs)
|
rs137854328
|
|
NM_000548.5(TSC2):c.2740_2741delinsG (p.Lys914fs)
|
rs2089331902
|
|
NM_000548.5(TSC2):c.2742+1G>A
|
rs45517262
|
|
NM_000548.5(TSC2):c.2742+5G>A
|
rs397515076
|
|
NM_000548.5(TSC2):c.2742+5G>C
|
|
|
NM_000548.5(TSC2):c.2742G>A (p.Lys914=)
|
rs137854877
|
|
NM_000548.5(TSC2):c.2743-1G>A
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1G>C
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1G>T
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1_2755dup
|
|
|
NM_000548.5(TSC2):c.2746del (p.Leu916fs)
|
|
|
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro)
|
rs137854405
|
|
NM_000548.5(TSC2):c.2763_2764dup (p.Leu922fs)
|
rs1555508917
|
|
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)
|
rs1555508929
|
|
NM_000548.5(TSC2):c.2765T>A (p.Leu922Ter)
|
|
|
NM_000548.5(TSC2):c.2772del (p.Phe924fs)
|
rs1555508938
|
|
NM_000548.5(TSC2):c.2790_2793del (p.Asp931fs)
|
|
|
NM_000548.5(TSC2):c.2806del (p.Arg936fs)
|
|
|
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)
|
rs45517270
|
|
NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter)
|
rs1596369682
|
|
NM_000548.5(TSC2):c.2832del (p.Lys945fs)
|
|
|
NM_000548.5(TSC2):c.2838-122G>A
|
rs1567489890
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.294dup (p.His99fs)
|
|
|
NM_000548.5(TSC2):c.2967-32_3105del
|
|
|
NM_000548.5(TSC2):c.2972dup (p.Gln992fs)
|
rs2089786684
|
|
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)
|
rs45438592
|
|
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs)
|
rs1596382268
|
|
NM_000548.5(TSC2):c.3020_3021delinsAA (p.Ser1007Ter)
|
rs2151431781
|
|
NM_000548.5(TSC2):c.3032del (p.Ala1011fs)
|
rs1596382441
|
|
NM_000548.5(TSC2):c.3040dup (p.Ser1014fs)
|
rs2151432406
|
|
NM_000548.5(TSC2):c.3059_3060insCCAT (p.Glu1021fs)
|
|
|
NM_000548.5(TSC2):c.3067dup (p.Thr1023fs)
|
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3095_3102dup (p.Phe1035fs)
|
rs1114167461
|
|
NM_000548.5(TSC2):c.3095_3107del (p.Arg1032fs)
|
|
|
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter)
|
rs137854015
|
|
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter)
|
rs45464800
|
|
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)
|
rs45464800
|
|
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer)
|
rs137854157
|
|
NM_000548.5(TSC2):c.3104del (p.Phe1035fs)
|
|
|
NM_000548.5(TSC2):c.3131+1G>A
|
rs45506401
|
|
NM_000548.5(TSC2):c.3131+2T>A
|
rs397515036
|
|
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3131G>C (p.Arg1044Thr)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3132-1G>A
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-1G>T
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-2A>C
|
rs45517282
|
|
NM_000548.5(TSC2):c.3132-2A>G
|
|
|
NM_000548.5(TSC2):c.3132_3133insAGAC (p.Ser1045fs)
|
|
|
NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter)
|
rs796053492
|
|
NM_000548.5(TSC2):c.3156del (p.Ala1053fs)
|
rs2151437486
|
|
NM_000548.5(TSC2):c.3164_3170del (p.Gly1055fs)
|
rs2151437718
|
|
NM_000548.5(TSC2):c.3164_3171dup (p.Lys1058fs)
|
|
|
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter)
|
rs796053509
|
|
NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs)
|
rs1555510579
|
|
NM_000548.5(TSC2):c.3189del (p.Asn1064fs)
|
rs1567498041
|
|
NM_000548.5(TSC2):c.3190_3209dup (p.Ser1072_Val1073insLeuSerLeuTerThrSer)
|
|
|
NM_000548.5(TSC2):c.3190_3285-15del
|
|
|
NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile)
|
rs397515284
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3207GAC[1] (p.Thr1071del)
|
|
|
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3212_3213del (p.Thr1071fs)
|
rs1057518448
|
|
NM_000548.5(TSC2):c.3214del (p.Ser1072fs)
|
rs137854106
|
|
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs)
|
rs397515115
|
|
NM_000548.5(TSC2):c.3228_3234dup (p.Ser1079fs)
|
rs2089834376
|
|
NM_000548.5(TSC2):c.322dup (p.Ile108fs)
|
rs2085375504
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3239T>A (p.Leu1080Ter)
|
rs2089838149
|
|
NM_000548.5(TSC2):c.3239dup (p.Leu1080fs)
|
|
|
NM_000548.5(TSC2):c.3247del (p.Leu1083fs)
|
|
|
NM_000548.5(TSC2):c.3251del (p.Asp1084fs)
|
rs2089840483
|
|
NM_000548.5(TSC2):c.3253delinsCC (p.Ser1085fs)
|
rs1596384304
|
|
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter)
|
rs45517287
|
|
NM_000548.5(TSC2):c.3255_3262del (p.Gly1086fs)
|
|
|
NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter)
|
rs1085307762
|
|
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)
|
rs45517288
|
|
NM_000548.5(TSC2):c.3270del (p.Gly1091fs)
|
|
|
NM_000548.5(TSC2):c.3281C>A (p.Ser1094Ter)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)
|
rs1064796511
|
|
NM_000548.5(TSC2):c.3294dup (p.Gly1099fs)
|
rs397515048
|
|
NM_000548.5(TSC2):c.3298del (p.Val1100fs)
|
rs137854162
|
|
NM_000548.5(TSC2):c.329del (p.Gln110fs)
|
rs1567395826
|
|
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)
|
rs796053515
|
|
NM_000548.5(TSC2):c.3305_3306del (p.Val1102fs)
|
|
|
NM_000548.5(TSC2):c.3305_3306dup (p.Arg1103Ter)
|
rs2151444781
|
|
NM_000548.5(TSC2):c.3307A>T (p.Arg1103Ter)
|
|
|
NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)
|
rs397514978
|
|
NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs)
|
rs137854018
|
|
NM_000548.5(TSC2):c.3316A>T (p.Lys1106Ter)
|
rs2151445155
|
|
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs)
|
rs397515144
|
|
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)
|
rs137854253
|
|
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter)
|
rs45496291
|
|
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter)
|
rs45517292
|
|
NM_000548.5(TSC2):c.336+1G>A
|
rs45517102
|
|
NM_000548.5(TSC2):c.336+1G>C
|
rs45517102
|
|
NM_000548.5(TSC2):c.336+1G>T
|
|
|
NM_000548.5(TSC2):c.336+2T>G
|
rs45505995
|
|
NM_000548.5(TSC2):c.336+5G>C
|
rs1057523242
|
|
NM_000548.5(TSC2):c.3361_3362delinsGACA (p.Ser1121fs)
|
rs2089878502
|
|
NM_000548.5(TSC2):c.3364del (p.Arg1122fs)
|
rs2151446681
|
|
NM_000548.5(TSC2):c.336G>A (p.Gln112=)
|
|
|
NM_000548.5(TSC2):c.337-1G>A
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-1G>T
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-2A>C
|
|
|
NM_000548.5(TSC2):c.3376del (p.Asp1126fs)
|
rs397515125
|
|
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter)
|
rs137854074
|
|
NM_000548.5(TSC2):c.3397+1G>A
|
rs137854208
|
|
NM_000548.5(TSC2):c.3397+1G>T
|
rs137854208
|
|
NM_000548.5(TSC2):c.3397+4A>G
|
|
|
NM_000548.5(TSC2):c.3397+5G>A
|
rs45501492
|
|
NM_000548.5(TSC2):c.3398-1G>A
|
rs45517293
|
|
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)
|
rs137854314
|
|
NM_000548.5(TSC2):c.3403del (p.His1135fs)
|
rs1596389437
|
|
NM_000548.5(TSC2):c.3404del (p.His1135fs)
|
rs1064793464
|
|
NM_000548.5(TSC2):c.340G>T (p.Glu114Ter)
|
rs397515021
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3424del (p.Leu1142fs)
|
rs1596389562
|
|
NM_000548.5(TSC2):c.3433_3437delinsGCA (p.Pro1145fs)
|
rs2089956522
|
|
NM_000548.5(TSC2):c.3434del (p.Pro1145fs)
|
rs2151456652
|
|
NM_000548.5(TSC2):c.3439dup (p.Ser1147fs)
|
rs2151456849
|
|
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)
|
rs45477491
|
|
NM_000548.5(TSC2):c.3448del (p.Leu1150fs)
|
rs1555511352
|
|
NM_000548.5(TSC2):c.3448dup (p.Leu1150fs)
|
rs1555511352
|
|
NM_000548.5(TSC2):c.3452del (p.Gly1151fs)
|
rs1131691419
|
|
NM_000548.5(TSC2):c.3455del (p.Ser1152fs)
|
|
|
NM_000548.5(TSC2):c.3473dup (p.Arg1159fs)
|
rs2151458037
|
|
NM_000548.5(TSC2):c.347del (p.Leu116fs)
|
rs1567398983
|
|
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)
|
rs45512692
|
|
NM_000548.5(TSC2):c.3505del (p.Ala1169fs)
|
rs2151459190
|
|
NM_000548.5(TSC2):c.3520del (p.Arg1174fs)
|
rs137854326
|
|
NM_000548.5(TSC2):c.352del (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.352dup (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)
|
rs45517297
|
|
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter)
|
rs1567504592
|
|
NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter)
|
rs1202939879
|
|
NM_000548.5(TSC2):c.3559dup (p.Val1187fs)
|
|
|
NM_000548.5(TSC2):c.3560_3567del (p.Val1187fs)
|
|
|
NM_000548.5(TSC2):c.3565del (p.Leu1189fs)
|
rs137854121
|
|
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)
|
rs45517298
|
|
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter)
|
rs397515168
|
|
NM_000548.5(TSC2):c.3582G>A (p.Trp1194Ter)
|
rs2151462008
|
|
NM_000548.5(TSC2):c.3586G>T (p.Glu1196Ter)
|
rs1555511585
|
|
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)
|
rs1131691602
|
|
NM_000548.5(TSC2):c.3592del (p.Leu1198fs)
|
|
|
NM_000548.5(TSC2):c.360_361del (p.Arg120fs)
|
rs876658878
|
|
NM_000548.5(TSC2):c.3610+1G>A
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+1G>C
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+1G>T
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+2T>C
|
|
|
NM_000548.5(TSC2):c.3610+419C>G
|
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs)
|
rs397514952
|
|
NM_000548.5(TSC2):c.3620dup (p.Ser1207fs)
|
rs2151480775
|
|
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3622dup (p.Trp1208fs)
|
|
|
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)
|
rs397514979
|
|
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter)
|
rs796053496
|
|
NM_000548.5(TSC2):c.3641_3814+28del
|
rs1555512330
|
|
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
|
|
|
NM_000548.5(TSC2):c.364del (p.Leu122fs)
|
rs2085499583
|
|
NM_000548.5(TSC2):c.3653_3654del (p.Pro1218fs)
|
rs2151481415
|
|
NM_000548.5(TSC2):c.3653del (p.Pro1218fs)
|
rs1057518201
|
|
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)
|
rs45517305
|
|
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs)
|
rs137854393
|
|
NM_000548.5(TSC2):c.3669del (p.Asn1224fs)
|
rs137854223
|
|
NM_000548.5(TSC2):c.3682del (p.Leu1228fs)
|
|
|
NM_000548.5(TSC2):c.3683del (p.Leu1228fs)
|
rs1596400038
|
|
NM_000548.5(TSC2):c.3684dup (p.Gln1229fs)
|
|
|
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)
|
rs45517306
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)
|
rs137854210
|
|
NM_000548.5(TSC2):c.3697_3698insGA (p.Asn1233fs)
|
rs2090159838
|
|
NM_000548.5(TSC2):c.3706dup (p.Met1236fs)
|
rs2151482554
|
|
NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter)
|
rs1057520759
|
|
NM_000548.5(TSC2):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAGCCCTCTTCTTT (p.Lys125delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_000548.5(TSC2):c.3736del (p.Asp1246fs)
|
rs796053516
|
|
NM_000548.5(TSC2):c.3738dup (p.Thr1247fs)
|
rs796053506
|
|
NM_000548.5(TSC2):c.3739del (p.Thr1247fs)
|
rs796053517
|
|
NM_000548.5(TSC2):c.3742_3751del (p.Ala1248fs)
|
rs2151483315
|
|
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)
|
rs1555512486
|
|
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter)
|
rs45517308
|
|
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)
|
rs45517308
|
|
NM_000548.5(TSC2):c.3752del (p.Lys1251fs)
|
|
|
NM_000548.5(TSC2):c.3759del (p.Ser1254fs)
|
rs1555512497
|
|
NM_000548.5(TSC2):c.3761C>A (p.Ser1254Ter)
|
|
|
NM_000548.5(TSC2):c.3774del (p.Ser1259fs)
|
|
|
NM_000548.5(TSC2):c.3777del (p.Ser1259fs)
|
rs1114167459
|
|
NM_000548.5(TSC2):c.3780_3787del (p.Ala1261fs)
|
rs2090169575
|
|
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs)
|
rs2090170656
|
|
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)
|
rs137854001
|
|
NM_000548.5(TSC2):c.3794dup (p.Leu1266fs)
|
|
|
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
|
rs796053505
|
|
NM_000548.5(TSC2):c.3814+1G>A
|
rs397514902
|
|
NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs)
|
rs796053518
|
|
NM_000548.5(TSC2):c.3884-1G>C
|
rs137854079
|
|
NM_000548.5(TSC2):c.3884-2A>T
|
rs137854053
|
|
NM_000548.5(TSC2):c.3884-497_5045del
|
|
|
NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter)
|
rs886039680
|
|
NM_000548.5(TSC2):c.3917del (p.Gly1306fs)
|
|
|
NM_000548.5(TSC2):c.3939del (p.Glu1313fs)
|
rs2090423688
|
|
NM_000548.5(TSC2):c.3944dup (p.Gly1316fs)
|
rs137854011
|
|
NM_000548.5(TSC2):c.3950dup (p.Leu1317fs)
|
rs2151512451
|
|
NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter)
|
rs1064793797
|
|
NM_000548.5(TSC2):c.3955_3958dup (p.Val1320fs)
|
|
|
NM_000548.5(TSC2):c.3956_3962del (p.Asp1319fs)
|
rs2151512637
|
|
NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter)
|
rs775604492
|
|
NM_000548.5(TSC2):c.4005+1G>A
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+1G>C
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4006-1G>A
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
NM_000548.5(TSC2):c.4006-2A>T
|
rs397514941
|
|
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.4013_4014del (p.Ser1338fs)
|
rs2151520497
|
|
NM_000548.5(TSC2):c.4014dup (p.Val1339fs)
|
rs2151520544
|
|
NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter)
|
rs397515003
|
|
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter)
|
rs397515035
|
|
NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter)
|
rs2151521044
|
|
NM_000548.5(TSC2):c.4051G>T (p.Glu1351Ter)
|
rs878854101
|
|
NM_000548.5(TSC2):c.4070del (p.Ile1357fs)
|
|
|
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter)
|
rs397514997
|
|
NM_000548.5(TSC2):c.4079del (p.Glu1360fs)
|
|
|
NM_000548.5(TSC2):c.4085_4098del (p.Val1362fs)
|
rs2151522509
|
|
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)
|
rs45517327
|
|
NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs)
|
rs1064793573
|
|
NM_000548.5(TSC2):c.4106_4109dup (p.Ser1371fs)
|
rs2090492186
|
|
NM_000548.5(TSC2):c.4106_4110del (p.Arg1369fs)
|
rs1567521369
|
|
NM_000548.5(TSC2):c.4114_4123dup (p.Ser1375fs)
|
rs2151523516
|
|
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs)
|
rs137854368
|
|
NM_000548.5(TSC2):c.4123_4124del (p.Ser1375fs)
|
rs137854289
|
|
NM_000548.5(TSC2):c.4127dup (p.Gln1377fs)
|
rs2151524044
|
|
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)
|
rs45517329
|
|
NM_000548.5(TSC2):c.4129del (p.Gln1377fs)
|
rs2151524091
|
|
NM_000548.5(TSC2):c.412G>T (p.Glu138Ter)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.4135_4136del (p.Ser1379fs)
|
rs2090496214
|
|
NM_000548.5(TSC2):c.4135_4160dup (p.Ser1387_Ser1388insArgSerProTer)
|
rs1555514034
|
|
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)
|
rs137854045
|
|
NM_000548.5(TSC2):c.4144_4145del (p.Leu1382fs)
|
|
|
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)
|
rs397514976
|
|
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)
|
rs397515009
|
|
NM_000548.5(TSC2):c.4149C>T (p.Ser1383=)
|
|
|
NM_000548.5(TSC2):c.4149dup (p.Lys1384fs)
|
rs1555514063
|
|
NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter)
|
rs397515033
|
|
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)
|
rs45517330
|
|
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)
|
rs137854363
|
|
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter)
|
rs886041772
|
|
NM_000548.5(TSC2):c.4198_4207del (p.Asp1400fs)
|
|
|
NM_000548.5(TSC2):c.41del (p.Lys14fs)
|
rs2084674122
|
|
NM_000548.5(TSC2):c.4207del (p.Asp1403fs)
|
rs137854273
|
|
NM_000548.5(TSC2):c.421G>T (p.Glu141Ter)
|
rs1060500924
|
|
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs)
|
rs1555514179
|
|
NM_000548.5(TSC2):c.4223G>A (p.Gly1408Asp)
|
|
|
NM_000548.5(TSC2):c.4223del (p.Gly1408fs)
|
rs137854427
|
|
NM_000548.5(TSC2):c.4242dup (p.Lys1415Ter)
|
|
|
NM_000548.5(TSC2):c.4246dup (p.Ala1416fs)
|
|
|
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)
|
rs45437193
|
|
NM_000548.5(TSC2):c.4255_4256del (p.Gln1419fs)
|
rs2151529577
|
|
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)
|
rs137854132
|
|
NM_000548.5(TSC2):c.4263dup (p.Thr1422fs)
|
|
|
NM_000548.5(TSC2):c.4270dup (p.Asp1424fs)
|
|
|
NM_000548.5(TSC2):c.4275_4294del (p.Glu1426fs)
|
|
|
NM_000548.5(TSC2):c.4276dup (p.Glu1426fs)
|
rs886041573
|
|
NM_000548.5(TSC2):c.4279del (p.Ser1427fs)
|
rs137854113
|
|
NM_000548.5(TSC2):c.4279dup (p.Ser1427fs)
|
rs137854113
|
|
NM_000548.5(TSC2):c.4280del (p.Ser1427fs)
|
rs2151530795
|
|
NM_000548.5(TSC2):c.4287dup (p.Trp1430fs)
|
rs2090516898
|
|
NM_000548.5(TSC2):c.428del (p.Phe143fs)
|
rs1057518508
|
|
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter)
|
rs45517334
|
|
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4303G>T (p.Glu1435Ter)
|
rs1441136255
|
|
NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs)
|
rs137854415
|
|
NM_000548.5(TSC2):c.4316del (p.Gly1439fs)
|
rs137853988
|
|
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)
|
rs45517337
|
|
NM_000548.5(TSC2):c.4323del (p.Glu1442fs)
|
rs137854327
|
|
NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter)
|
rs45469392
|
|
NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs)
|
rs1596417662
|
|
NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs)
|
rs1555514354
|
|
NM_000548.5(TSC2):c.4345del (p.Ser1449fs)
|
rs2090524176
|
|
NM_000548.5(TSC2):c.4351del (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter)
|
rs45517339
|
|
NM_000548.5(TSC2):c.4359del (p.Ser1454fs)
|
rs397515237
|
|
NM_000548.5(TSC2):c.4369del (p.Arg1457fs)
|
rs1567524236
|
|
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs)
|
rs137854046
|
|
NM_000548.5(TSC2):c.4375del (p.Arg1459fs)
|
rs397514959
|
|
NM_000548.5(TSC2):c.4379_4395dup (p.Ser1466fs)
|
rs2151534791
|
|
NM_000548.5(TSC2):c.4383del (p.Gly1460_Tyr1461insTer)
|
|
|
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter)
|
rs45517341
|
|
NM_000548.5(TSC2):c.4398_4401del (p.Ala1467fs)
|
rs2090530802
|
|
NM_000548.5(TSC2):c.4404_4407dup (p.Arg1470fs)
|
|
|
NM_000548.5(TSC2):c.440_441del (p.Thr147fs)
|
rs137854292
|
|
NM_000548.5(TSC2):c.4415del (p.Gly1472fs)
|
rs794727573
|
|
NM_000548.5(TSC2):c.4416del (p.Lys1473fs)
|
|
|
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs)
|
rs137854307
|
|
NM_000548.5(TSC2):c.4424del (p.Val1475fs)
|
rs2151536071
|
|
NM_000548.5(TSC2):c.4429_4430del (p.Arg1477fs)
|
rs1567524949
|
|
NM_000548.5(TSC2):c.4437_4440delinsTTT (p.Lys1481fs)
|
rs1555514548
|
|
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter)
|
rs45446594
|
|
NM_000548.5(TSC2):c.4439dup (p.Leu1480fs)
|
|
|
NM_000548.5(TSC2):c.4440_4441insT (p.Lys1481Ter)
|
rs2151536718
|
|
NM_000548.5(TSC2):c.4441A>T (p.Lys1481Ter)
|
|
|
NM_000548.5(TSC2):c.4441_4442del (p.Lys1481fs)
|
rs137854312
|
|
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs)
|
rs137854312
|
|
NM_000548.5(TSC2):c.4470_4471del (p.Lys1491fs)
|
rs2151537568
|
|
NM_000548.5(TSC2):c.4470_4471delinsTT (p.Glu1490_Lys1491delinsAspTer)
|
rs2090542594
|
|
NM_000548.5(TSC2):c.4473del (p.Val1492fs)
|
rs397515023
|
|
NM_000548.5(TSC2):c.4473dup (p.Val1492fs)
|
rs397515023
|
|
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)
|
rs45517344
|
|
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4490C>T (p.Pro1497Leu)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4493+1G>A
|
rs1057518230
|
|
NM_000548.5(TSC2):c.4494-2A>G
|
rs397514990
|
|
NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs)
|
rs886041905
|
|
NM_000548.5(TSC2):c.4504del (p.Leu1502fs)
|
rs137854160
|
|
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)
|
rs45517348
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4516del (p.His1506fs)
|
rs137854017
|
|
NM_000548.5(TSC2):c.4524del (p.Phe1509fs)
|
rs1567526941
|
|
NM_000548.5(TSC2):c.4536_4543del (p.Asp1512fs)
|
|
|
NM_000548.5(TSC2):c.4537G>T (p.Glu1513Ter)
|
|
|
NM_000548.5(TSC2):c.4537del (p.Glu1513fs)
|
rs137854028
|
|
NM_000548.5(TSC2):c.4539_4540insGGGCGACGAG (p.Ser1514fs)
|
|
|
NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter)
|
rs74363455
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.4544del (p.Asn1515fs)
|
rs886041789
|
|
NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs)
|
rs886041643
|
|
NM_000548.5(TSC2):c.4557del (p.Leu1520fs)
|
|
|
NM_000548.5(TSC2):c.4566del (p.Asn1522fs)
|
|
|
NM_000548.5(TSC2):c.4569+1G>A
|
rs1060500972
|
|
NM_000548.5(TSC2):c.4569+2_4569+5del
|
rs2151545272
|
|
NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs)
|
rs137854425
|
|
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)
|
rs45517352
|
|
NM_000548.5(TSC2):c.4573_4574del (p.Gln1525fs)
|
rs2090620654
|
|
NM_000548.5(TSC2):c.4578del (p.Phe1527fs)
|
rs2151550210
|
|
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter)
|
rs137854329
|
|
NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)
|
|
|
NM_000548.5(TSC2):c.4589C>A (p.Ser1530Ter)
|
|
|
NM_000548.5(TSC2):c.4593_4594delinsTT (p.Gln1532Ter)
|
|
|
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter)
|
rs886041919
|
|
NM_000548.5(TSC2):c.45_51del (p.Lys16fs)
|
rs397514958
|
|
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)
|
rs397515020
|
|
NM_000548.5(TSC2):c.4616C>A (p.Ser1539Ter)
|
|
|
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter)
|
rs45455897
|
|
NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter)
|
rs45455897
|
|
NM_000548.5(TSC2):c.4642del (p.Leu1548fs)
|
rs137854083
|
|
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro)
|
rs397515070
|
|
NM_000548.5(TSC2):c.4644del (p.Tyr1549fs)
|
rs2151553190
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)
|
rs137854146
|
|
NM_000548.5(TSC2):c.4660C>T (p.Gln1554Ter)
|
rs2090634528
|
|
NM_000548.5(TSC2):c.4662+1G>A
|
rs45514095
|
|
NM_000548.5(TSC2):c.4662+1G>T
|
|
|
NM_000548.5(TSC2):c.4662+2T>C
|
|
|
NM_000548.5(TSC2):c.4662+2_4662+6del
|
rs796053520
|
|
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4663-1G>A
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-1G>T
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-2A>C
|
|
|
NM_000548.5(TSC2):c.4663-2A>G
|
|
|
NM_000548.5(TSC2):c.4665_4666insT (p.Asn1556Ter)
|
rs2151569238
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4705dup (p.Tyr1569fs)
|
|
|
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter)
|
rs397515277
|
|
NM_000548.5(TSC2):c.4710G>C (p.Arg1570Ser)
|
|
|
NM_000548.5(TSC2):c.472G>T (p.Glu158Ter)
|
|
|
NM_000548.5(TSC2):c.4730del (p.Gly1577fs)
|
rs397515173
|
|
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)
|
rs45517367
|
|
NM_000548.5(TSC2):c.4736dup (p.Arg1580fs)
|
rs2090775918
|
|
NM_000548.5(TSC2):c.4738dup (p.Arg1580fs)
|
|
|
NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs)
|
rs1567533189
|
|
NM_000548.5(TSC2):c.4756del (p.Asp1586fs)
|
rs2151573209
|
|
NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)
|
rs1555497714
|
|
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)
|
rs45479192
|
|
NM_000548.5(TSC2):c.4772del (p.Lys1591fs)
|
rs2151573795
|
|
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter)
|
rs45517368
|
|
NM_000548.5(TSC2):c.4783G>C (p.Gly1595Arg)
|
|
|
NM_000548.5(TSC2):c.4795del (p.Val1599fs)
|
|
|
NM_000548.5(TSC2):c.4798_4804dup (p.Glu1602delinsValTrpTer)
|
rs2090784195
|
|
NM_000548.5(TSC2):c.4800_4801del (p.Cys1600fs)
|
rs1567533467
|
|
NM_000548.5(TSC2):c.4803dup (p.Glu1602Ter)
|
rs2090784696
|
|
NM_000548.5(TSC2):c.4804G>T (p.Glu1602Ter)
|
|
|
NM_000548.5(TSC2):c.481+1G>A
|
rs45488500
|
|
NM_000548.5(TSC2):c.481+1G>T
|
rs45488500
|
|
NM_000548.5(TSC2):c.481+5G>A
|
rs137854135
|
|
NM_000548.5(TSC2):c.481+5G>T
|
rs137854135
|
|
NM_000548.5(TSC2):c.4810_4811del (p.Gly1604fs)
|
rs2151575311
|
|
NM_000548.5(TSC2):c.4811del (p.Gly1604fs)
|
rs2090785469
|
|
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter)
|
rs397514888
|
|
NM_000548.5(TSC2):c.482-1G>A
|
rs137854306
|
|
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)
|
rs137854399
|
|
NM_000548.5(TSC2):c.4824C>G (p.Tyr1608Ter)
|
|
|
NM_000548.5(TSC2):c.4827C>A (p.Cys1609Ter)
|
rs1179490369
|
|
NM_000548.5(TSC2):c.4827_4835delinsG (p.Cys1609fs)
|
|
|
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)
|
rs45517371
|
|
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter)
|
rs45517372
|
|
NM_000548.5(TSC2):c.4830_4837del (p.Trp1610_Asp1613delinsTer)
|
rs1596439555
|
|
NM_000548.5(TSC2):c.4834_4850-95del
|
rs2151576283
|
|
NM_000548.5(TSC2):c.4836_4839dup (p.Ile1614Ter)
|
|
|
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)
|
rs137854331
|
|
NM_000548.5(TSC2):c.4844_4845dup (p.Gln1616fs)
|
rs2151576756
|
|
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)
|
rs45455296
|
|
NM_000548.5(TSC2):c.4849+1G>A
|
rs45517375
|
|
NM_000548.5(TSC2):c.4849+1G>T
|
rs45517375
|
|
NM_000548.5(TSC2):c.4850-1G>A
|
rs45517377
|
|
NM_000548.5(TSC2):c.4850-2A>G
|
rs397515315
|
|
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr)
|
rs45446901
|
|
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)
|
rs397515220
|
|
NM_000548.5(TSC2):c.4869_4870insAAGGCATCGTC (p.Leu1624fs)
|
rs2090851576
|
|
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs)
|
rs137854050
|
|
NM_000548.5(TSC2):c.4881del (p.Lys1628fs)
|
rs1064793646
|
|
NM_000548.5(TSC2):c.4882_4900del (p.Lys1628fs)
|
rs2151585074
|
|
NM_000548.5(TSC2):c.4883dup (p.Asp1629fs)
|
rs2151585265
|
|
NM_000548.5(TSC2):c.4889dup (p.Asp1631fs)
|
rs2151585509
|
|
NM_000548.5(TSC2):c.488_489del (p.Phe163fs)
|
rs137854122
|
|
NM_000548.5(TSC2):c.4903_4917del (p.Cys1635_Arg1639del)
|
|
|
NM_000548.5(TSC2):c.4905dup (p.Asp1636fs)
|
rs2151586233
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)
|
rs45485092
|
|
NM_000548.5(TSC2):c.4924_4936del (p.Gly1642fs)
|
rs2151587004
|
|
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4925del (p.Gly1642fs)
|
rs137854156
|
|
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His)
|
rs45517379
|
|
NM_000548.5(TSC2):c.4930G>T (p.Asp1644Tyr)
|
rs137853999
|
|
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4935dup (p.Val1646fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4938_4939del (p.Ser1647fs)
|
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000548.5(TSC2):c.4950C>G (p.Tyr1650Ter)
|
rs1283177454
|
|
NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs)
|
rs1060500950
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.4952del (p.Asn1651fs)
|
rs2090865155
|
|
NM_000548.5(TSC2):c.4954_4955insTT (p.Asp1652fs)
|
|
|
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)
|
rs397515159
|
|
NM_000548.5(TSC2):c.4966G>T (p.Asp1656Tyr)
|
|
|
NM_000548.5(TSC2):c.4966_4989+14delinsTGA
|
rs2151588861
|
|
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)
|
rs45517111
|
|
NM_000548.5(TSC2):c.4989+1G>A
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+2T>A
|
rs2090871271
|
|
NM_000548.5(TSC2):c.4990-1G>A
|
rs1555439650
|
|
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)
|
rs45448101
|
|
NM_000548.5(TSC2):c.5003_5004del (p.Phe1668fs)
|
rs2151611619
|
|
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)
|
rs1131691794
|
|
NM_000548.5(TSC2):c.5017del (p.Val1673fs)
|
rs2091048308
|
|
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly)
|
rs397515067
|
|
NM_000548.5(TSC2):c.5018_5042dup (p.Leu1682fs)
|
rs1596455074
|
|
NM_000548.5(TSC2):c.501G>A (p.Trp167Ter)
|
rs755728007
|
|
NM_000548.5(TSC2):c.501_508del (p.Trp167fs)
|
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5025del (p.Leu1676fs)
|
rs137854382
|
|
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs)
|
rs1555439753
|
|
NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter)
|
rs45467993
|
|
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter)
|
rs45467993
|
|
NM_000548.5(TSC2):c.5043C>A (p.Asn1681Lys)
|
|
|
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)
|
rs45476793
|
|
NM_000548.5(TSC2):c.5048T>G (p.Val1683Gly)
|
rs2151613782
|
|
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)
|
rs45517388
|
|
NM_000548.5(TSC2):c.5064_5065delinsTT (p.Arg1688_Lys1689delinsSerTer)
|
rs1555439847
|
|
NM_000548.5(TSC2):c.5068+1G>A
|
rs45445199
|
|
NM_000548.5(TSC2):c.5068+1G>T
|
rs45445199
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5068G>C (p.Asp1690His)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5069-18A>G
|
rs45484794
|
|
NM_000548.5(TSC2):c.5069-1G>C
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-2A>C
|
rs45487291
|
|
NM_000548.5(TSC2):c.5069-2A>G
|
rs45487291
|
|
NM_000548.5(TSC2):c.506del (p.Asp169fs)
|
rs1596270787
|
|
NM_000548.5(TSC2):c.5074dup (p.Glu1692fs)
|
rs2091087487
|
|
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs)
|
rs137854037
|
|
NM_000548.5(TSC2):c.5076_5104del (p.Glu1692fs)
|
rs2151619821
|
|
NM_000548.5(TSC2):c.5078del (p.Gly1693fs)
|
rs1555440022
|
|
NM_000548.5(TSC2):c.5081_5082insA (p.Val1695fs)
|
rs2091089201
|
|
NM_000548.5(TSC2):c.5082del (p.Val1695fs)
|
|
|
NM_000548.5(TSC2):c.5086dup (p.Asp1696fs)
|
rs2151620335
|
|
NM_000548.5(TSC2):c.5103_5104del (p.Lys1701fs)
|
rs2151620921
|
|
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs)
|
rs397515227
|
|
NM_000548.5(TSC2):c.5111_5112dup (p.Asp1705fs)
|
|
|
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter)
|
rs397515205
|
|
NM_000548.5(TSC2):c.5114_5117dup (p.Asn1707fs)
|
rs2151621480
|
|
NM_000548.5(TSC2):c.5115_5116dup (p.Arg1706fs)
|
|
|
NM_000548.5(TSC2):c.5120dup (p.Asn1707fs)
|
|
|
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)
|
rs45517396
|
|
NM_000548.5(TSC2):c.5140del (p.Gln1714fs)
|
rs878854115
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
NM_000548.5(TSC2):c.515dup (p.Leu172fs)
|
|
|
NM_000548.5(TSC2):c.5160+1G>A
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+1G>T
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+2T>C
|
rs397515170
|
|
NM_000548.5(TSC2):c.5160+2_5160+3del
|
rs137854036
|
|
NM_000548.5(TSC2):c.5160+2dup
|
rs397514969
|
|
NM_000548.5(TSC2):c.5160+3G>T
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+4A>C
|
rs45517403
|
|
NM_000548.5(TSC2):c.5161-1G>A
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-1G>C
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-1G>T
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-2A>G
|
rs1114167468
|
|
NM_000548.5(TSC2):c.5161del (p.Met1721fs)
|
rs137854251
|
|
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)
|
rs1060499676
|
|
NM_000548.5(TSC2):c.5169dup (p.Gln1724fs)
|
rs1555440437
|
|
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5174_5175dup (p.His1726fs)
|
rs2151628196
|
|
NM_000548.5(TSC2):c.5196_5199del (p.Thr1733fs)
|
|
|
NM_000548.5(TSC2):c.51dup (p.Leu18fs)
|
|
|
NM_000548.5(TSC2):c.5203dup (p.Ile1735fs)
|
rs886041940
|
|
NM_000548.5(TSC2):c.5204_5207del (p.Ile1735fs)
|
|
|
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs)
|
rs397515053
|
|
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)
|
rs45517410
|
|
NM_000548.5(TSC2):c.5211dup (p.Ser1738fs)
|
rs2151630268
|
|
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)
|
rs1596460606
|
|
NM_000548.5(TSC2):c.5214del (p.Lys1739fs)
|
rs397515139
|
|
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5220dup (p.Ile1741fs)
|
|
|
NM_000548.5(TSC2):c.5226_5243del (p.His1746_Arg1751del)
|
rs2151631183
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5228G>C (p.Arg1743Pro)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5234_5241del (p.Arg1745fs)
|
rs2091147162
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5239_5256del (p.Ile1747_Gln1752del)
|
rs2151632008
|
|
NM_000548.5(TSC2):c.5252_5259+19del
|
rs137854397
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5259+1del
|
rs137854317
|
|
NM_000548.5(TSC2):c.5262del (p.Cys1755fs)
|
rs796053507
|
|
NM_000548.5(TSC2):c.5266del (p.Glu1756fs)
|
rs878854118
|
|
NM_000548.5(TSC2):c.5281_5296del (p.Ser1761fs)
|
rs1064792923
|
|
NM_000548.5(TSC2):c.5289del (p.Ser1764fs)
|
rs1555441221
|
|
NM_000548.5(TSC2):c.536_537del (p.Val179fs)
|
|
|
NM_000548.5(TSC2):c.5377_5378insT (p.Arg1793fs)
|
rs2151641918
|
|
NM_000548.5(TSC2):c.5377dup (p.Arg1793fs)
|
rs2151641893
|
|
NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs)
|
rs1085307666
|
|
NM_000548.5(TSC2):c.5393_*57del (p.Ser1798fs)
|
rs1567135103
|
|
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs)
|
rs397514972
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
NM_000548.5(TSC2):c.548_553del (p.Leu183_Lys185delinsTer)
|
|
|
NM_000548.5(TSC2):c.567T>A (p.Cys189Ter)
|
rs2085669104
|
|
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)
|
rs137854359
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
NM_000548.5(TSC2):c.581dup (p.Tyr194Ter)
|
rs1555498221
|
|
NM_000548.5(TSC2):c.582C>G (p.Tyr194Ter)
|
rs750174170
|
|
NM_000548.5(TSC2):c.595del (p.Val199fs)
|
rs2151061858
|
|
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter)
|
rs45517115
|
|
NM_000548.5(TSC2):c.599+1G>A
|
rs45460895
|
|
NM_000548.5(TSC2):c.599+2T>A
|
|
|
NM_000548.5(TSC2):c.599+2T>G
|
rs45484992
|
|
NM_000548.5(TSC2):c.600-124G>A
|
rs2151069014
|
|
NM_000548.5(TSC2):c.600-1G>A
|
rs45517117
|
|
NM_000548.5(TSC2):c.600-2A>T
|
rs45468592
|
|
NM_000548.5(TSC2):c.618del (p.Cys206fs)
|
rs2151070992
|
|
NM_000548.5(TSC2):c.644_645del (p.Ile215fs)
|
|
|
NM_000548.5(TSC2):c.645_648del (p.Ile215fs)
|
rs1596275494
|
|
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)
|
rs45517118
|
|
NM_000548.5(TSC2):c.648+1G>A
|
rs45488893
|
|
NM_000548.5(TSC2):c.649-1G>C
|
rs794727906
|
|
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)
|
rs397515249
|
|
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)
|
rs45517119
|
|
NM_000548.5(TSC2):c.683dup (p.Tyr228Ter)
|
rs1567408314
|
|
NM_000548.5(TSC2):c.690C>A (p.Cys230Ter)
|
|
|
NM_000548.5(TSC2):c.691_692dup (p.Pro232fs)
|
rs2151078913
|
|
NM_000548.5(TSC2):c.697del (p.Ala233fs)
|
|
|
NM_000548.5(TSC2):c.706dup (p.Leu236fs)
|
|
|
NM_000548.5(TSC2):c.710dup (p.Leu238fs)
|
rs397515166
|
|
NM_000548.5(TSC2):c.724dup (p.Thr242fs)
|
rs397515256
|
|
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)
|
rs137854101
|
|
NM_000548.5(TSC2):c.751G>T (p.Glu251Ter)
|
rs1114167465
|
|
NM_000548.5(TSC2):c.756_757dup (p.Cys253fs)
|
|
|
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)
|
rs45517125
|
|
NM_000548.5(TSC2):c.765_766dup (p.Cys256fs)
|
rs1567409292
|
|
NM_000548.5(TSC2):c.766del (p.Cys256fs)
|
rs1567409292
|
|
NM_000548.5(TSC2):c.769del (p.Trp257fs)
|
rs2085898708
|
|
NM_000548.5(TSC2):c.770G>A (p.Trp257Ter)
|
|
|
NM_000548.5(TSC2):c.774+1G>A
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+1G>T
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+2T>A
|
rs45517129
|
|
NM_000548.5(TSC2):c.774+2T>C
|
|
|
NM_000548.5(TSC2):c.775-1G>C
|
rs45454192
|
|
NM_000548.5(TSC2):c.775-2del
|
rs2085953535
|
|
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs)
|
rs2085955298
|
|
NM_000548.5(TSC2):c.784_794dup (p.His267fs)
|
|
|
NM_000548.5(TSC2):c.810_811dup (p.Ser271fs)
|
rs2151087352
|
|
NM_000548.5(TSC2):c.824dup (p.Asn275fs)
|
rs886041922
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000548.5(TSC2):c.832dup (p.His278fs)
|
rs137854020
|
|
NM_000548.5(TSC2):c.848+1G>A
|
rs45466296
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000548.5(TSC2):c.848+2T>G
|
rs1555499119
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-1G>C
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-2A>C
|
|
|
NM_000548.5(TSC2):c.852del (p.Tyr285fs)
|
|
|
NM_000548.5(TSC2):c.855C>G (p.Tyr285Ter)
|
rs794726983
|
|
NM_000548.5(TSC2):c.871dup (p.Leu291fs)
|
rs137854052
|
|
NM_000548.5(TSC2):c.87_105del (p.Ser30fs)
|
rs1596234235
|
|
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)
|
rs45517139
|
|
NM_000548.5(TSC2):c.894del (p.Phe298fs)
|
|
|
NM_000548.5(TSC2):c.894dup (p.Val299fs)
|
rs137854024
|
|
NM_000548.5(TSC2):c.909_928del (p.Trp304fs)
|
rs137854012
|
|
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)
|
rs45517140
|
|
NM_000548.5(TSC2):c.914del (p.Gly305fs)
|
rs2086233936
|
|
NM_000548.5(TSC2):c.916del (p.Ala306fs)
|
|
|
NM_000548.5(TSC2):c.924del (p.Leu309fs)
|
rs2151108081
|
|
NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter)
|
rs886041758
|
|
NM_000548.5(TSC2):c.935_936del (p.Leu312fs)
|
rs1596288988
|
|
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)
|
rs1345813917
|
|
NM_000548.5(TSC2):c.96_106del (p.Glu32fs)
|
|
|
NM_000548.5(TSC2):c.970_973dup (p.Gln325fs)
|
|
|
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)
|
rs45517143
|
|
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
|
rs397515097
|
|
NM_000548.5(TSC2):c.974_975del (p.Gln325fs)
|
|
|
NM_000548.5(TSC2):c.975+1G>A
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+1G>T
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+2T>C
|
rs2151110209
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_000548.5(TSC2):c.976-1G>A
|
rs45451199
|
|
NM_000548.5(TSC2):c.979_980dup (p.Met327fs)
|
rs397515176
|
|
NM_000548.5(TSC2):c.979dup (p.Met327fs)
|
rs2151134473
|
|
NM_000548.5(TSC2):c.987T>A (p.Cys329Ter)
|
rs2151134671
|
|
NM_000548.5(TSC2):c.993del (p.Asn331fs)
|
rs1596298137
|
|
NM_000548.5(TSC2):c.994G>T (p.Glu332Ter)
|
|
|
NM_000548.5(TSC2):c.[4570-18_4570-6del;4570-5CA[3]]
|
|
|
NM_000548.5:c.(1716+1_1717-1)_(2545+1_2546-1)del
|
|
|
Single allele
|
|
|