NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)
|
rs747602915
|
0.00002
|
NC_000009.11:g.(?_135771184)_(135781738_?)del
|
|
|
NC_000009.11:g.(?_135771622)_(135773017_?)del
|
|
|
NC_000009.11:g.(?_135771622)_(135820530_?)del
|
|
|
NC_000009.11:g.(?_135775735)_(135820530_?)del
|
|
|
NC_000009.11:g.(?_135776102)_(135787844_?)dup
|
|
|
NC_000009.11:g.(?_135777972)_(135782777_?)del
|
|
|
NC_000009.11:g.(?_135782098)_(135796843_?)del
|
|
|
NC_000009.11:g.(?_135798715)_(135798899_?)del
|
|
|
NC_000009.11:g.(?_135802568)_(135804339_?)del
|
|
|
NC_000009.12:g.(?_132896215)_(132900857_?)del
|
|
|
NC_000009.12:g.(?_132896215)_(132904474_?)del
|
|
|
NC_000009.12:g.(?_132896215)_(132928892_?)del
|
|
|
NC_000009.12:g.(?_132896229)_(132928878_?)del
|
|
|
NC_000009.12:g.(?_132897164)_(132897630_?)del
|
|
|
NC_000009.12:g.(?_132900348)_(132921993_?)del
|
|
|
NC_000009.12:g.(?_132910551)_(132912477_?)del
|
|
|
NC_000009.12:g.(?_132910551)_(132928892_?)del
|
|
|
NC_000009.12:g.(?_132921343)_(132921993_?)del
|
|
|
NC_000009.12:g.(?_132927181)_(132927324_?)del
|
|
|
NC_000009.12:g.(?_132944543)_(132945143_?)del
|
|
|
NM_000368.4(TSC1):c.1030delG
|
rs118203486
|
|
NM_000368.4(TSC1):c.2006_2007insTTTAGGTTGCCTTT
|
|
|
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter)
|
rs118203481
|
|
NM_000368.5(TSC1):c.1006del (p.Arg336fs)
|
|
|
NM_000368.5(TSC1):c.1015dup (p.Thr339fs)
|
|
|
NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter)
|
rs2131972870
|
|
NM_000368.5(TSC1):c.1029+1G>A
|
rs118203485
|
|
NM_000368.5(TSC1):c.1029+1G>C
|
rs118203485
|
|
NM_000368.5(TSC1):c.1030-2A>G
|
rs2131965369
|
|
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)
|
rs118203491
|
|
NM_000368.5(TSC1):c.1047del (p.Ser350fs)
|
rs2131963896
|
|
NM_000368.5(TSC1):c.1057dup (p.Cys353fs)
|
rs1845932297
|
|
NM_000368.5(TSC1):c.1073del (p.Pro358fs)
|
rs1554817259
|
|
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs)
|
rs118203494
|
|
NM_000368.5(TSC1):c.10C>T (p.Gln4Ter)
|
rs753838459
|
|
NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter)
|
|
|
NM_000368.5(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer)
|
rs1588322764
|
|
NM_000368.5(TSC1):c.1130_1131del (p.Phe377fs)
|
rs1554817222
|
|
NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs)
|
rs1064793844
|
|
NM_000368.5(TSC1):c.116del (p.Pro39fs)
|
|
|
NM_000368.5(TSC1):c.1172del (p.Pro391fs)
|
rs2131945572
|
|
NM_000368.5(TSC1):c.1192del (p.Ala398fs)
|
rs2131943928
|
|
NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs)
|
rs1554817140
|
|
NM_000368.5(TSC1):c.1201del (p.Cys401fs)
|
rs2131943046
|
|
NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter)
|
rs118203504
|
|
NM_000368.5(TSC1):c.1228del (p.Ser410fs)
|
rs1845899274
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1257dup (p.Arg420fs)
|
|
|
NM_000368.5(TSC1):c.1270A>T (p.Arg424Ter)
|
|
|
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)
|
rs118203509
|
|
NM_000368.5(TSC1):c.1279del (p.Ser427fs)
|
rs118203510
|
|
NM_000368.5(TSC1):c.1285_1298del (p.Arg429fs)
|
rs2131880971
|
|
NM_000368.5(TSC1):c.1301dup (p.Gln435fs)
|
rs1554816394
|
|
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs)
|
rs1064795285
|
|
NM_000368.5(TSC1):c.1336G>T (p.Glu446Ter)
|
rs1845700817
|
|
NM_000368.5(TSC1):c.1344del (p.Gly449fs)
|
|
|
NM_000368.5(TSC1):c.1367dup (p.Ser457fs)
|
rs1554816245
|
|
NM_000368.5(TSC1):c.1369del (p.Ser457fs)
|
rs118203523
|
|
NM_000368.5(TSC1):c.1379del (p.Pro460fs)
|
rs118203525
|
|
NM_000368.5(TSC1):c.1382_1385del (p.Gly461fs)
|
rs2131865150
|
|
NM_000368.5(TSC1):c.1388dup (p.Leu463fs)
|
rs1064796237
|
|
NM_000368.5(TSC1):c.139del (p.Asp47fs)
|
rs2132269239
|
|
NM_000368.5(TSC1):c.140_146del (p.Asp47fs)
|
|
|
NM_000368.5(TSC1):c.1412del (p.Asp471fs)
|
rs2131863156
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1432G>T (p.Glu478Ter)
|
rs1393065957
|
|
NM_000368.5(TSC1):c.1446_1447del (p.Ile482_Ser483insTer)
|
rs1554816076
|
|
NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter)
|
|
|
NM_000368.5(TSC1):c.1450A>T (p.Arg484Ter)
|
rs2131850310
|
|
NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter)
|
rs1564482622
|
|
NM_000368.5(TSC1):c.146del (p.Tyr49fs)
|
rs397514861
|
|
NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter)
|
rs2132268804
|
|
NM_000368.5(TSC1):c.147_157del (p.Tyr49_Ser53delinsTer)
|
|
|
NM_000368.5(TSC1):c.1480del (p.Ala494fs)
|
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1518del (p.Tyr508fs)
|
rs1060503210
|
|
NM_000368.5(TSC1):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs)
|
rs118203544
|
|
NM_000368.5(TSC1):c.1535_1536dup (p.Pro513fs)
|
|
|
NM_000368.5(TSC1):c.1538_1997+108del
|
|
|
NM_000368.5(TSC1):c.1541_1549delinsTG (p.Gly514fs)
|
rs1564482288
|
|
NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter)
|
rs1588310754
|
|
NM_000368.5(TSC1):c.1548del (p.Gln516fs)
|
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1598del (p.Pro533fs)
|
|
|
NM_000368.5(TSC1):c.1601_1602del (p.Glu534fs)
|
|
|
NM_000368.5(TSC1):c.1607T>A (p.Leu536Ter)
|
|
|
NM_000368.5(TSC1):c.1607_1616del (p.Leu536fs)
|
|
|
NM_000368.5(TSC1):c.1610_1611del (p.His537fs)
|
|
|
NM_000368.5(TSC1):c.161del (p.Ser54fs)
|
|
|
NM_000368.5(TSC1):c.1624A>T (p.Lys542Ter)
|
rs1845641716
|
|
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)
|
rs118203343
|
|
NM_000368.5(TSC1):c.1648C>T (p.Gln550Ter)
|
|
|
NM_000368.5(TSC1):c.1654_1655delinsCCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTACAAAGTC (p.Phe552fs)
|
|
|
NM_000368.5(TSC1):c.1674del (p.Cys559fs)
|
|
|
NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter)
|
rs368317116
|
|
NM_000368.5(TSC1):c.1679dup (p.Ser561fs)
|
rs2131833003
|
|
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1690G>T (p.Glu564Ter)
|
|
|
NM_000368.5(TSC1):c.1692_1693dup (p.Ser565fs)
|
rs118203562
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
|
rs118203564
|
|
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs)
|
rs1588309702
|
|
NM_000368.5(TSC1):c.1726_1727del (p.Leu576fs)
|
rs886041684
|
|
NM_000368.5(TSC1):c.1749del (p.Ser584fs)
|
rs2131827015
|
|
NM_000368.5(TSC1):c.1758del (p.Pro585_Cys586insTer)
|
rs1554815856
|
|
NM_000368.5(TSC1):c.1772dup (p.Thr592fs)
|
|
|
NM_000368.5(TSC1):c.1781del (p.Val594fs)
|
rs1554815829
|
|
NM_000368.5(TSC1):c.1792_1804dup (p.Pro602fs)
|
|
|
NM_000368.5(TSC1):c.1797del (p.Gln600fs)
|
rs2131823012
|
|
NM_000368.5(TSC1):c.17del (p.Asn6fs)
|
rs2132297010
|
|
NM_000368.5(TSC1):c.181del (p.Ile60_Leu61insTer)
|
rs2132266748
|
|
NM_000368.5(TSC1):c.181dup (p.Leu61fs)
|
rs2132266748
|
|
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter)
|
rs118203587
|
|
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)
|
rs118203345
|
|
NM_000368.5(TSC1):c.1849_1852dup (p.His618fs)
|
rs2131818738
|
|
NM_000368.5(TSC1):c.1849del (p.His617fs)
|
rs1564481122
|
|
NM_000368.5(TSC1):c.1858_1859del (p.Val620fs)
|
rs1845617102
|
|
NM_000368.5(TSC1):c.1872dup (p.Glu625Ter)
|
rs2131817146
|
|
NM_000368.5(TSC1):c.1873_1876dup (p.Glu626fs)
|
rs2131816800
|
|
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)
|
rs397514815
|
|
NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter)
|
rs1158059433
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
|
|
NM_000368.5(TSC1):c.1896del (p.Gly633fs)
|
rs1564480935
|
|
NM_000368.5(TSC1):c.1898del (p.Gly633fs)
|
rs2131814973
|
|
NM_000368.5(TSC1):c.1899_1900insTATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGCAAAAGGA (p.Asn634fs)
|
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1914del (p.Asp638fs)
|
|
|
NM_000368.5(TSC1):c.1918dup (p.Val640fs)
|
rs2131813354
|
|
NM_000368.5(TSC1):c.191T>A (p.Leu64Ter)
|
rs1846916239
|
|
NM_000368.5(TSC1):c.1929del (p.Ser644fs)
|
rs2131812351
|
|
NM_000368.5(TSC1):c.1936dup (p.Met646fs)
|
rs2131811653
|
|
NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter)
|
rs1171512070
|
|
NM_000368.5(TSC1):c.193C>T (p.Gln65Ter)
|
rs1846915941
|
|
NM_000368.5(TSC1):c.1944dup (p.Leu649fs)
|
rs2131811032
|
|
NM_000368.5(TSC1):c.1951del (p.Arg651fs)
|
|
|
NM_000368.5(TSC1):c.1956_1960delinsTCAGGG (p.Ile653fs)
|
rs1845607838
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1961_1974del (p.Gln654fs)
|
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter)
|
rs2131809131
|
|
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter)
|
rs886041538
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+2T>G
|
rs2131806725
|
|
NM_000368.5(TSC1):c.1998-1G>C
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-1G>T
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-2A>C
|
rs1057518217
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
NM_000368.5(TSC1):c.2000dup (p.Leu667fs)
|
|
|
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)
|
rs118203617
|
|
NM_000368.5(TSC1):c.2022del (p.Asp675fs)
|
rs118203619
|
|
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter)
|
rs1554815454
|
|
NM_000368.5(TSC1):c.2033del (p.His678fs)
|
rs2131786544
|
|
NM_000368.5(TSC1):c.2039_2041+1del
|
rs2131785934
|
|
NM_000368.5(TSC1):c.2039del (p.Gly680fs)
|
rs2131786241
|
|
NM_000368.5(TSC1):c.2046_2050del (p.Pro683fs)
|
rs2131774414
|
|
NM_000368.5(TSC1):c.2063_2078del (p.Ile688fs)
|
|
|
NM_000368.5(TSC1):c.2065dup (p.Arg689fs)
|
rs2131773288
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2077_2078dup (p.Asp693fs)
|
|
|
NM_000368.5(TSC1):c.2078_2082del (p.Asp693fs)
|
|
|
NM_000368.5(TSC1):c.2081del (p.Gln694fs)
|
|
|
NM_000368.5(TSC1):c.2090del (p.Leu697fs)
|
rs118203633
|
|
NM_000368.5(TSC1):c.210+1G>T
|
|
|
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2105_2106insCT (p.Leu702fs)
|
rs1564478705
|
|
NM_000368.5(TSC1):c.2105_2108dup (p.Tyr704fs)
|
|
|
NM_000368.5(TSC1):c.2106dup (p.Leu703fs)
|
rs397514838
|
|
NM_000368.5(TSC1):c.211-1G>A
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-1G>T
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-2A>C
|
rs118203352
|
|
NM_000368.5(TSC1):c.211-2A>G
|
|
|
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
|
rs118203645
|
|
NM_000368.5(TSC1):c.2112T>G (p.Tyr704Ter)
|
rs118203646
|
|
NM_000368.5(TSC1):c.2112_2125del (p.Tyr704_Arg709delinsTer)
|
|
|
NM_000368.5(TSC1):c.2122A>T (p.Lys708Ter)
|
|
|
NM_000368.5(TSC1):c.2123dup (p.Arg709fs)
|
|
|
NM_000368.5(TSC1):c.2130dup (p.Gln711fs)
|
rs2131765460
|
|
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2140del (p.Leu714fs)
|
|
|
NM_000368.5(TSC1):c.2140dup (p.Leu714fs)
|
|
|
NM_000368.5(TSC1):c.2141del (p.Leu714fs)
|
rs2131764067
|
|
NM_000368.5(TSC1):c.2145del (p.Asn716fs)
|
rs118203650
|
|
NM_000368.5(TSC1):c.2159del (p.Leu720fs)
|
rs1845497321
|
|
NM_000368.5(TSC1):c.2165del (p.Lys722fs)
|
rs1060503213
|
|
NM_000368.5(TSC1):c.2167del (p.Lys722_Val723insTer)
|
rs2131760465
|
|
NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs)
|
rs1554815246
|
|
NM_000368.5(TSC1):c.218T>A (p.Leu73Ter)
|
rs1846822085
|
|
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)
|
rs397514820
|
|
NM_000368.5(TSC1):c.2212_2213dup (p.Asp738fs)
|
rs2131741904
|
|
NM_000368.5(TSC1):c.2213_2214insGACCAGTCTTTTGTAAC (p.Asp738delinsGluThrSerLeuLeuTer)
|
|
|
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)
|
rs1554815054
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs)
|
rs1554815049
|
|
NM_000368.5(TSC1):c.2239dup (p.Ile747fs)
|
|
|
NM_000368.5(TSC1):c.2241_2242del (p.Gln748fs)
|
rs2131739882
|
|
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter)
|
rs1588301951
|
|
NM_000368.5(TSC1):c.2248_2249dup (p.Trp750fs)
|
rs1845453970
|
|
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)
|
rs118203663
|
|
NM_000368.5(TSC1):c.225del (p.Ile76fs)
|
|
|
NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter)
|
rs1845452711
|
|
NM_000368.5(TSC1):c.2265_2266del (p.Lys756fs)
|
|
|
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
|
rs397514783
|
|
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2285del (p.Asn762fs)
|
|
|
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)
|
rs118203671
|
|
NM_000368.5(TSC1):c.228_235del (p.Asn77fs)
|
|
|
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2304dup (p.Asp769Ter)
|
rs2131734694
|
|
NM_000368.5(TSC1):c.2314del (p.Met771_Val772insTer)
|
|
|
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)
|
rs1588355838
|
|
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)
|
rs1564477162
|
|
NM_000368.5(TSC1):c.2340_2343del (p.Arg780fs)
|
rs1588301374
|
|
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)
|
rs118203680
|
|
NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs)
|
rs1554814935
|
|
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)
|
rs118203681
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2356del (p.Arg786fs)
|
|
|
NM_000368.5(TSC1):c.2360del (p.Glu787fs)
|
rs1588301269
|
|
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)
|
rs118203685
|
|
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter)
|
rs781371665
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.238del (p.Val80fs)
|
|
|
NM_000368.5(TSC1):c.2419_2420dup (p.Ala808fs)
|
|
|
NM_000368.5(TSC1):c.2463_2466del (p.Cys822fs)
|
|
|
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer)
|
rs118203697
|
|
NM_000368.5(TSC1):c.2470_2479del (p.Thr824fs)
|
|
|
NM_000368.5(TSC1):c.2474_2478del (p.Glu825fs)
|
|
|
NM_000368.5(TSC1):c.2477_2480dup (p.Leu828fs)
|
rs2131704033
|
|
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)
|
rs1564475884
|
|
NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs)
|
rs1554821022
|
|
NM_000368.5(TSC1):c.2503-1G>A
|
|
|
NM_000368.5(TSC1):c.2503-1G>C
|
rs118203705
|
|
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)
|
rs118203706
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.2510dup (p.Asn837fs)
|
rs118203709
|
|
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs)
|
rs794727320
|
|
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)
|
rs1447417010
|
|
NM_000368.5(TSC1):c.2545_2566del (p.Asn849fs)
|
rs1564474974
|
|
NM_000368.5(TSC1):c.2547del (p.Asn849fs)
|
rs2131687967
|
|
NM_000368.5(TSC1):c.2548_2554del (p.Arg850fs)
|
|
|
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter)
|
rs1588297391
|
|
NM_000368.5(TSC1):c.2556del (p.Leu853fs)
|
rs2131687509
|
|
NM_000368.5(TSC1):c.2578G>T (p.Glu860Ter)
|
|
|
NM_000368.5(TSC1):c.2588del (p.Leu863fs)
|
|
|
NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter)
|
rs1845328711
|
|
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)
|
rs886039662
|
|
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter)
|
rs2131685383
|
|
NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter)
|
rs1845327789
|
|
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)
|
rs397514776
|
|
NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter)
|
rs1166302175
|
|
NM_000368.5(TSC1):c.261dup (p.Ser88fs)
|
rs1588355628
|
|
NM_000368.5(TSC1):c.2625+367A>G
|
rs1564474542
|
|
NM_000368.5(TSC1):c.2626-2A>G
|
rs118203717
|
|
NM_000368.5(TSC1):c.2635del (p.Glu878_Met879insTer)
|
rs2131639772
|
|
NM_000368.5(TSC1):c.2635dup (p.Met879fs)
|
|
|
NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter)
|
rs1057520444
|
|
NM_000368.5(TSC1):c.2649del (p.Tyr884fs)
|
|
|
NM_000368.5(TSC1):c.2652_2664del (p.Ala883_Tyr884insTer)
|
|
|
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672del (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter)
|
rs2131637455
|
|
NM_000368.5(TSC1):c.2674del (p.Arg892fs)
|
rs2131637518
|
|
NM_000368.5(TSC1):c.2680del (p.His894fs)
|
|
|
NM_000368.5(TSC1):c.2681dup (p.His894fs)
|
|
|
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs)
|
rs1588290658
|
|
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)
|
rs118203732
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.271del (p.Ser91fs)
|
rs1588355566
|
|
NM_000368.5(TSC1):c.2721del (p.Lys907fs)
|
rs1588290641
|
|
NM_000368.5(TSC1):c.2743_2747del (p.His915fs)
|
rs2131633443
|
|
NM_000368.5(TSC1):c.2744dup (p.His915fs)
|
|
|
NM_000368.5(TSC1):c.275T>G (p.Leu92Ter)
|
rs2132234958
|
|
NM_000368.5(TSC1):c.2771_2772insTTTTTATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTAAAGGTAACATTCATCAGTAGCGCAGGTTGTTTTTGTATTGGGGGGTAAATCCTCAAGTCAAGCTCGACAGAANNNNNNNNNNTCTCGCTCTCGTGTCCTCGGTAGACGCCGTGTTGGGCCTCCCACAGTGCTGGGATTACTGGCGTGCGCCAGCGCGCCCGGCCGAAAGACCACCTTCTTTT (p.Leu924delinsPhePheTyrPheLeuPhePhePhePheLeuPhePhePheTer)
|
|
|
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)
|
rs397514879
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000368.5(TSC1):c.2851C>T (p.Gln951Ter)
|
|
|
NM_000368.5(TSC1):c.290_291del (p.Ile97fs)
|
|
|
NM_000368.5(TSC1):c.2913del (p.Asp972fs)
|
|
|
NM_000368.5(TSC1):c.296_297del (p.Leu99fs)
|
|
|
NM_000368.5(TSC1):c.298C>T (p.Gln100Ter)
|
rs1846813509
|
|
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)
|
rs118203364
|
|
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)
|
rs118203365
|
|
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)
|
rs397514774
|
|
NM_000368.5(TSC1):c.337_338del (p.Leu113fs)
|
rs118203367
|
|
NM_000368.5(TSC1):c.339del (p.Leu113fs)
|
|
|
NM_000368.5(TSC1):c.343del (p.Ser115fs)
|
rs2132230601
|
|
NM_000368.5(TSC1):c.344del (p.Ser115fs)
|
rs2132230501
|
|
NM_000368.5(TSC1):c.354del (p.Lys118fs)
|
|
|
NM_000368.5(TSC1):c.360_361insGGCAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAATGTCTC (p.Lys121fs)
|
|
|
NM_000368.5(TSC1):c.360_361insSVAelement
|
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
NM_000368.5(TSC1):c.363G>C (p.Lys121Asn)
|
rs118203370
|
|
NM_000368.5(TSC1):c.364-1G>A
|
|
|
NM_000368.5(TSC1):c.364-1G>C
|
rs118203376
|
|
NM_000368.5(TSC1):c.364-1G>T
|
rs118203376
|
|
NM_000368.5(TSC1):c.364-2A>G
|
rs1846685279
|
|
NM_000368.5(TSC1):c.393_405del (p.Thr131_Gly132insTer)
|
rs2132191644
|
|
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)
|
rs118203380
|
|
NM_000368.5(TSC1):c.397_406del (p.Gly132_Val133insTer)
|
rs2132191512
|
|
NM_000368.5(TSC1):c.398dup (p.Val135fs)
|
rs2132191990
|
|
NM_000368.5(TSC1):c.400_412dup (p.Thr138fs)
|
|
|
NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs)
|
rs1846678053
|
|
NM_000368.5(TSC1):c.421_422insTCTAC (p.Pro141fs)
|
|
|
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter)
|
rs118203382
|
|
NM_000368.5(TSC1):c.43del (p.Asp15fs)
|
|
|
NM_000368.5(TSC1):c.442A>T (p.Lys148Ter)
|
rs2132189676
|
|
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)
|
rs118203384
|
|
NM_000368.5(TSC1):c.482T>C (p.Leu161Pro)
|
rs1846672141
|
|
NM_000368.5(TSC1):c.486del (p.Ser163fs)
|
rs2132187252
|
|
NM_000368.5(TSC1):c.488C>G (p.Ser163Ter)
|
|
|
NM_000368.5(TSC1):c.507del (p.Gly170fs)
|
rs1846669447
|
|
NM_000368.5(TSC1):c.508+1G>C
|
rs118203390
|
|
NM_000368.5(TSC1):c.508+2T>C
|
rs2132185885
|
|
NM_000368.5(TSC1):c.513_514insT (p.Val172fs)
|
|
|
NM_000368.5(TSC1):c.526del (p.Tyr176fs)
|
rs2132161209
|
|
NM_000368.5(TSC1):c.526dup (p.Tyr176fs)
|
rs2132161155
|
|
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter)
|
rs118203398
|
|
NM_000368.5(TSC1):c.555C>G (p.Tyr185Ter)
|
rs118203398
|
|
NM_000368.5(TSC1):c.558_559dup (p.Leu187fs)
|
|
|
NM_000368.5(TSC1):c.561_562del (p.Phe188fs)
|
|
|
NM_000368.5(TSC1):c.561_562dup (p.Phe188fs)
|
rs2132157980
|
|
NM_000368.5(TSC1):c.564del (p.His189fs)
|
|
|
NM_000368.5(TSC1):c.574del (p.Tyr192fs)
|
rs1846585365
|
|
NM_000368.5(TSC1):c.582_583dup (p.Tyr195fs)
|
rs2132156045
|
|
NM_000368.5(TSC1):c.587del (p.Pro196fs)
|
rs796053464
|
|
NM_000368.5(TSC1):c.599dup (p.Ser201fs)
|
rs118203411
|
|
NM_000368.5(TSC1):c.59del (p.Gly20fs)
|
|
|
NM_000368.5(TSC1):c.608del (p.Leu203fs)
|
|
|
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)
|
rs118203416
|
|
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
|
rs118203417
|
|
NM_000368.5(TSC1):c.648_649insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACCTGGAGACTTTT (p.Glu217delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000368.5(TSC1):c.648del (p.Phe216fs)
|
rs118203417
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.673G>T (p.Glu225Ter)
|
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter)
|
rs118203429
|
|
NM_000368.5(TSC1):c.698T>G (p.Leu233Ter)
|
rs1846545578
|
|
NM_000368.5(TSC1):c.721G>T (p.Glu241Ter)
|
rs2132134052
|
|
NM_000368.5(TSC1):c.731del (p.Pro244fs)
|
rs1846543630
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.734dup (p.Arg246fs)
|
rs1588345595
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+2T>C
|
rs1564497308
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.738-1G>A
|
rs1564490210
|
|
NM_000368.5(TSC1):c.738-1G>C
|
rs1564490210
|
|
NM_000368.5(TSC1):c.738-2A>G
|
rs118203440
|
|
NM_000368.5(TSC1):c.738-2A>T
|
rs118203440
|
|
NM_000368.5(TSC1):c.740G>A (p.Trp247Ter)
|
rs1846020610
|
|
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.74dup (p.Thr26fs)
|
rs886041959
|
|
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter)
|
rs1554817691
|
|
NM_000368.5(TSC1):c.773_774insTA (p.Glu258fs)
|
rs2132004661
|
|
NM_000368.5(TSC1):c.798del (p.Thr267fs)
|
|
|
NM_000368.5(TSC1):c.809C>G (p.Ser270Ter)
|
|
|
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer)
|
rs118203451
|
|
NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter)
|
rs118203452
|
|
NM_000368.5(TSC1):c.817_824del (p.Asp273fs)
|
|
|
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)
|
rs118203454
|
|
NM_000368.5(TSC1):c.831del (p.Ser278fs)
|
rs1846011821
|
|
NM_000368.5(TSC1):c.846del (p.Ala283fs)
|
rs1846010451
|
|
NM_000368.5(TSC1):c.850dup (p.Arg284fs)
|
rs1554817612
|
|
NM_000368.5(TSC1):c.857del (p.Pro286fs)
|
|
|
NM_000368.5(TSC1):c.86_90dup (p.Glu31fs)
|
rs1564504869
|
|
NM_000368.5(TSC1):c.871_886dup (p.Pro296fs)
|
rs1588326629
|
|
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)
|
rs118203461
|
|
NM_000368.5(TSC1):c.891del (p.Pro296_Tyr297insTer)
|
rs1846004910
|
|
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter)
|
rs118203463
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000368.5(TSC1):c.913+1G>A
|
rs118203470
|
|
NM_000368.5(TSC1):c.913+1G>T
|
rs118203470
|
|
NM_000368.5(TSC1):c.913+2T>A
|
|
|
NM_000368.5(TSC1):c.913+2T>G
|
|
|
NM_000368.5(TSC1):c.92del (p.Glu31fs)
|
|
|
NM_000368.5(TSC1):c.932del (p.Pro311fs)
|
|
|
NM_000368.5(TSC1):c.945dup (p.Arg316fs)
|
rs2131980428
|
|
NM_000368.5(TSC1):c.965_978del (p.Met322fs)
|
rs1588324435
|
|
NM_000368.5(TSC1):c.978_988del (p.Pro327fs)
|
|
|
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)
|
rs1554817388
|
|
NM_000368.5(TSC1):c.988_989insGA (p.Leu330fs)
|
rs1564488810
|
|
NM_000368.5(TSC1):c.989_990del (p.Leu330fs)
|
rs118203479
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000368.5(TSC1):c.997_998del (p.Pro333fs)
|
rs1564488773
|
|