NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu)
|
rs1053311636
|
0.00006
|
NM_000548.5(TSC2):c.921C>G (p.His307Gln)
|
rs878854121
|
0.00004
|
NM_000548.5(TSC2):c.848G>A (p.Arg283Lys)
|
rs1255519055
|
0.00003
|
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly)
|
rs753730009
|
0.00002
|
NM_000548.5(TSC2):c.3285-3C>A
|
rs781023043
|
0.00002
|
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr)
|
rs993614997
|
0.00002
|
NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala)
|
rs756957699
|
0.00002
|
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val)
|
rs1060500913
|
0.00001
|
NM_000548.5(TSC2):c.1039A>G (p.Lys347Glu)
|
rs1337295642
|
0.00001
|
NM_000548.5(TSC2):c.1075G>A (p.Asp359Asn)
|
rs2086534058
|
0.00001
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)
|
rs757844109
|
0.00001
|
NM_000548.5(TSC2):c.1120-3C>T
|
rs1349958011
|
0.00001
|
NM_000548.5(TSC2):c.1142G>T (p.Arg381Met)
|
rs45465395
|
0.00001
|
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn)
|
rs1596303501
|
0.00001
|
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)
|
rs1365616275
|
0.00001
|
NM_000548.5(TSC2):c.1257+20G>A
|
rs1436234038
|
0.00001
|
NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr)
|
rs1186443300
|
0.00001
|
NM_000548.5(TSC2):c.134T>G (p.Leu45Arg)
|
rs1383831944
|
0.00001
|
NM_000548.5(TSC2):c.138+4A>G
|
rs779611259
|
0.00001
|
NM_000548.5(TSC2):c.1423A>G (p.Ile475Val)
|
rs1196710568
|
0.00001
|
NM_000548.5(TSC2):c.1425C>G (p.Ile475Met)
|
rs1596307430
|
0.00001
|
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)
|
rs760205499
|
0.00001
|
NM_000548.5(TSC2):c.1490C>A (p.Pro497His)
|
rs1484576810
|
0.00001
|
NM_000548.5(TSC2):c.1504C>T (p.His502Tyr)
|
rs1567437505
|
0.00001
|
NM_000548.5(TSC2):c.1569C>G (p.His523Gln)
|
rs1420211177
|
0.00001
|
NM_000548.5(TSC2):c.1603A>T (p.Met535Leu)
|
rs1309598467
|
0.00001
|
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe)
|
rs201334685
|
0.00001
|
NM_000548.5(TSC2):c.1624C>T (p.Pro542Ser)
|
rs891347695
|
0.00001
|
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)
|
rs1430159201
|
0.00001
|
NM_000548.5(TSC2):c.170G>A (p.Arg57His)
|
rs397514949
|
0.00001
|
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)
|
rs773304374
|
0.00001
|
NM_000548.5(TSC2):c.1765A>T (p.Met589Leu)
|
rs1567457356
|
0.00001
|
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly)
|
rs910068556
|
0.00001
|
NM_000548.5(TSC2):c.178A>G (p.Met60Val)
|
rs1053960780
|
0.00001
|
NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala)
|
rs1295352648
|
0.00001
|
NM_000548.5(TSC2):c.1925C>G (p.Pro642Arg)
|
rs1408228669
|
0.00001
|
NM_000548.5(TSC2):c.1946+9G>T
|
rs1470276886
|
0.00001
|
NM_000548.5(TSC2):c.1952C>T (p.Pro651Leu)
|
rs1300730043
|
0.00001
|
NM_000548.5(TSC2):c.1991C>G (p.Ser664Cys)
|
rs991714565
|
0.00001
|
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro)
|
rs878854079
|
0.00001
|
NM_000548.5(TSC2):c.2045G>C (p.Gly682Ala)
|
rs1567465004
|
0.00001
|
NM_000548.5(TSC2):c.2050G>A (p.Val684Met)
|
rs779275341
|
0.00001
|
NM_000548.5(TSC2):c.2053C>T (p.Pro685Ser)
|
rs748300709
|
0.00001
|
NM_000548.5(TSC2):c.2054C>T (p.Pro685Leu)
|
rs959165669
|
0.00001
|
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala)
|
rs763351805
|
0.00001
|
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr)
|
rs757347786
|
0.00001
|
NM_000548.5(TSC2):c.2220+6A>G
|
rs745822483
|
0.00001
|
NM_000548.5(TSC2):c.2278A>G (p.Thr760Ala)
|
rs1213793365
|
0.00001
|
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)
|
rs777459404
|
0.00001
|
NM_000548.5(TSC2):c.2356-3C>T
|
rs1310938905
|
0.00001
|
NM_000548.5(TSC2):c.2357G>A (p.Arg786His)
|
rs796053511
|
0.00001
|
NM_000548.5(TSC2):c.2416G>A (p.Val806Met)
|
rs796053473
|
0.00001
|
NM_000548.5(TSC2):c.2445G>T (p.Met815Ile)
|
rs1203344843
|
0.00001
|
NM_000548.5(TSC2):c.2446C>G (p.Pro816Ala)
|
rs760265207
|
0.00001
|
NM_000548.5(TSC2):c.2515A>G (p.Met839Val)
|
rs876660457
|
0.00001
|
NM_000548.5(TSC2):c.2640-3C>T
|
rs2089308821
|
0.00001
|
NM_000548.5(TSC2):c.2702G>A (p.Arg901His)
|
rs1273957629
|
0.00001
|
NM_000548.5(TSC2):c.2719G>T (p.Asp907Tyr)
|
rs1287273870
|
0.00001
|
NM_000548.5(TSC2):c.2741A>C (p.Lys914Thr)
|
rs1405342761
|
0.00001
|
NM_000548.5(TSC2):c.2803G>A (p.Ala935Thr)
|
rs979456797
|
0.00001
|
NM_000548.5(TSC2):c.2828G>A (p.Arg943Lys)
|
rs1447031509
|
0.00001
|
NM_000548.5(TSC2):c.2858C>A (p.Pro953His)
|
rs1303011979
|
0.00001
|
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg)
|
rs397515191
|
0.00001
|
NM_000548.5(TSC2):c.2884C>T (p.Pro962Ser)
|
rs1477697117
|
0.00001
|
NM_000548.5(TSC2):c.2896T>C (p.Phe966Leu)
|
rs1567490884
|
0.00001
|
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn)
|
rs1168031047
|
0.00001
|
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)
|
rs1478204355
|
0.00001
|
NM_000548.5(TSC2):c.2941A>G (p.Ser981Gly)
|
rs2089595149
|
0.00001
|
NM_000548.5(TSC2):c.2966+4G>T
|
rs1235253082
|
0.00001
|
NM_000548.5(TSC2):c.2967C>T (p.Ser989=)
|
rs766417784
|
0.00001
|
NM_000548.5(TSC2):c.2970G>T (p.Arg990Ser)
|
rs1317631053
|
0.00001
|
NM_000548.5(TSC2):c.301G>A (p.Val101Met)
|
rs878854089
|
0.00001
|
NM_000548.5(TSC2):c.3114C>A (p.Phe1038Leu)
|
rs1567497089
|
0.00001
|
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val)
|
rs2089807202
|
0.00001
|
NM_000548.5(TSC2):c.323T>C (p.Ile108Thr)
|
rs1233900284
|
0.00001
|
NM_000548.5(TSC2):c.3277G>A (p.Glu1093Lys)
|
rs1182829976
|
0.00001
|
NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro)
|
rs755815612
|
0.00001
|
NM_000548.5(TSC2):c.3298G>T (p.Val1100Leu)
|
rs1596385749
|
0.00001
|
NM_000548.5(TSC2):c.3301C>T (p.His1101Tyr)
|
rs1060500933
|
0.00001
|
NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro)
|
rs1260370117
|
0.00001
|
NM_000548.5(TSC2):c.334C>G (p.Gln112Glu)
|
rs397515308
|
0.00001
|
NM_000548.5(TSC2):c.3404A>G (p.His1135Arg)
|
rs1309968292
|
0.00001
|
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser)
|
rs895935495
|
0.00001
|
NM_000548.5(TSC2):c.3518C>T (p.Thr1173Ile)
|
rs2089969949
|
0.00001
|
NM_000548.5(TSC2):c.352G>T (p.Val118Phe)
|
rs878854094
|
0.00001
|
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu)
|
rs45517297
|
0.00001
|
NM_000548.5(TSC2):c.3551C>A (p.Ala1184Glu)
|
rs1060500939
|
0.00001
|
NM_000548.5(TSC2):c.3610+3A>G
|
rs760153227
|
0.00001
|
NM_000548.5(TSC2):c.3773C>A (p.Ala1258Asp)
|
rs1060500958
|
0.00001
|
NM_000548.5(TSC2):c.3815-7C>G
|
rs1441898498
|
0.00001
|
NM_000548.5(TSC2):c.381C>G (p.Ile127Met)
|
rs2085502591
|
0.00001
|
NM_000548.5(TSC2):c.3893T>C (p.Val1298Ala)
|
rs758677443
|
0.00001
|
NM_000548.5(TSC2):c.3899T>A (p.Met1300Lys)
|
rs1349341137
|
0.00001
|
NM_000548.5(TSC2):c.3902A>G (p.Glu1301Gly)
|
rs2090419224
|
0.00001
|
NM_000548.5(TSC2):c.3941C>T (p.Pro1314Leu)
|
rs1217156011
|
0.00001
|
NM_000548.5(TSC2):c.3964G>A (p.Ala1322Thr)
|
rs759790981
|
0.00001
|
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe)
|
rs1350803240
|
0.00001
|
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val)
|
rs1060500928
|
0.00001
|
NM_000548.5(TSC2):c.4196G>A (p.Gly1399Glu)
|
rs2090504166
|
0.00001
|
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu)
|
rs1384101814
|
0.00001
|
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn)
|
rs1267811475
|
0.00001
|
NM_000548.5(TSC2):c.4257G>C (p.Gln1419His)
|
rs1403321543
|
0.00001
|
NM_000548.5(TSC2):c.434C>T (p.Ala145Val)
|
rs1596265255
|
0.00001
|
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys)
|
rs766916450
|
0.00001
|
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser)
|
rs1029118280
|
0.00001
|
NM_000548.5(TSC2):c.4470G>C (p.Glu1490Asp)
|
rs1221986548
|
0.00001
|
NM_000548.5(TSC2):c.4561C>T (p.Pro1521Ser)
|
rs1468281970
|
0.00001
|
NM_000548.5(TSC2):c.4568A>G (p.Glu1523Gly)
|
rs777406873
|
0.00001
|
NM_000548.5(TSC2):c.4569+5G>A
|
rs746446349
|
0.00001
|
NM_000548.5(TSC2):c.4570-3C>T
|
rs1166715944
|
0.00001
|
NM_000548.5(TSC2):c.457A>G (p.Ile153Val)
|
rs1555497700
|
0.00001
|
NM_000548.5(TSC2):c.4608G>T (p.Gln1536His)
|
rs749875773
|
0.00001
|
NM_000548.5(TSC2):c.4758C>G (p.Asp1586Glu)
|
rs1366814192
|
0.00001
|
NM_000548.5(TSC2):c.481G>A (p.Ala161Thr)
|
rs1157976261
|
0.00001
|
NM_000548.5(TSC2):c.4848A>G (p.Gln1616=)
|
rs762819541
|
0.00001
|
NM_000548.5(TSC2):c.4849+3A>T
|
rs1057521378
|
0.00001
|
NM_000548.5(TSC2):c.4850C>G (p.Ala1617Gly)
|
rs1412545821
|
0.00001
|
NM_000548.5(TSC2):c.4868C>G (p.Thr1623Ser)
|
rs397515220
|
0.00001
|
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys)
|
rs1555438551
|
0.00001
|
NM_000548.5(TSC2):c.4961G>T (p.Gly1654Val)
|
rs1555438692
|
0.00001
|
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)
|
rs1555498118
|
0.00001
|
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile)
|
rs1555439727
|
0.00001
|
NM_000548.5(TSC2):c.5038T>G (p.Cys1680Gly)
|
rs1555439802
|
0.00001
|
NM_000548.5(TSC2):c.5067A>G (p.Lys1689=)
|
rs1018327394
|
0.00001
|
NM_000548.5(TSC2):c.5071A>G (p.Met1691Val)
|
rs767809848
|
0.00001
|
NM_000548.5(TSC2):c.5086G>T (p.Asp1696Tyr)
|
rs1555440048
|
0.00001
|
NM_000548.5(TSC2):c.5107G>A (p.Val1703Met)
|
rs2091092273
|
0.00001
|
NM_000548.5(TSC2):c.5133G>A (p.Val1711=)
|
rs1596457919
|
0.00001
|
NM_000548.5(TSC2):c.5160+6T>C
|
rs1567130441
|
0.00001
|
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp)
|
rs1555440500
|
0.00001
|
NM_000548.5(TSC2):c.5201A>G (p.Asp1734Gly)
|
rs878854117
|
0.00001
|
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)
|
rs140526185
|
0.00001
|
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln)
|
rs749487441
|
0.00001
|
NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser)
|
rs781226141
|
0.00001
|
NM_000548.5(TSC2):c.533T>C (p.Leu178Pro)
|
rs1266917945
|
0.00001
|
NM_000548.5(TSC2):c.5374C>A (p.Gln1792Lys)
|
rs201916931
|
0.00001
|
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)
|
rs796053479
|
0.00001
|
NM_000548.5(TSC2):c.5416T>C (p.Phe1806Leu)
|
rs1060500910
|
0.00001
|
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)
|
rs45506197
|
0.00001
|
NM_000548.5(TSC2):c.632C>A (p.Ser211Tyr)
|
rs878854120
|
0.00001
|
NM_000548.5(TSC2):c.635C>T (p.Ser212Phe)
|
rs2085795216
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_000548.5(TSC2):c.817A>G (p.Ile273Val)
|
rs1357428836
|
0.00001
|
NM_000548.5(TSC2):c.849-6T>G
|
rs886038358
|
0.00001
|
NM_000548.5(TSC2):c.851C>T (p.Ala284Val)
|
rs1195702502
|
0.00001
|
NM_000548.5(TSC2):c.985T>C (p.Cys329Arg)
|
rs2086518199
|
0.00001
|
NC_000016.10:g.(?_2058737)_(2088610_?)dup
|
|
|
NC_000016.10:g.(?_2081585)_(2088620_?)dup
|
|
|
NC_000016.9:g.(?_2098588)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2098611)_(2110820_?)dup
|
|
|
NC_000016.9:g.(?_2098611)_(2138617_?)dup
|
|
|
NC_000016.9:g.(?_2098617)_(2110824_?)dup
|
|
|
NC_000016.9:g.(?_2103323)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2106625)_(2126191_?)dup
|
|
|
NC_000016.9:g.(?_2108738)_(2138621_?)dup
|
|
|
NC_000016.9:g.(?_2108742)_(2138617_?)dup
|
|
|
NC_000016.9:g.(?_2114253)_(2138611_?)dup
|
|
|
NC_000016.9:g.(?_2115500)_(2115656_?)dup
|
|
|
NC_000016.9:g.(?_2125790)_(2132515_?)dup
|
|
|
NC_000016.9:g.(?_2130391)_(2132328_?)del
|
|
|
NM_000548.5(TSC2):c.1000G>A (p.Val334Met)
|
rs2086521360
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)
|
rs45517144
|
|
NM_000548.5(TSC2):c.1006T>C (p.Tyr336His)
|
rs2086522579
|
|
NM_000548.5(TSC2):c.1007A>T (p.Tyr336Phe)
|
rs780378198
|
|
NM_000548.5(TSC2):c.100A>G (p.Lys34Glu)
|
rs2084680573
|
|
NM_000548.5(TSC2):c.1010A>T (p.Glu337Val)
|
rs1596298246
|
|
NM_000548.5(TSC2):c.1011G>C (p.Glu337Asp)
|
|
|
NM_000548.5(TSC2):c.1014C>G (p.Ile338Met)
|
rs1250621196
|
|
NM_000548.5(TSC2):c.1015G>C (p.Val339Leu)
|
rs559727962
|
|
NM_000548.5(TSC2):c.1018C>G (p.Leu340Val)
|
|
|
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro)
|
rs397515192
|
|
NM_000548.5(TSC2):c.1020G>T (p.Leu340=)
|
|
|
NM_000548.5(TSC2):c.1022C>T (p.Ser341Phe)
|
rs2086524884
|
|
NM_000548.5(TSC2):c.1025_1027del (p.Ile342del)
|
rs2086525255
|
|
NM_000548.5(TSC2):c.1029C>T (p.Thr343=)
|
rs45468201
|
|
NM_000548.5(TSC2):c.1031G>A (p.Arg344Lys)
|
|
|
NM_000548.5(TSC2):c.1032G>A (p.Arg344=)
|
rs1057524033
|
|
NM_000548.5(TSC2):c.1036A>T (p.Ile346Phe)
|
rs768760795
|
|
NM_000548.5(TSC2):c.1038C>G (p.Ile346Met)
|
rs2086528091
|
|
NM_000548.5(TSC2):c.1045T>C (p.Tyr349His)
|
rs2086529367
|
|
NM_000548.5(TSC2):c.1046A>T (p.Tyr349Phe)
|
rs1060500916
|
|
NM_000548.5(TSC2):c.1048A>T (p.Arg350Trp)
|
rs2086530276
|
|
NM_000548.5(TSC2):c.1051A>G (p.Lys351Glu)
|
rs2086530884
|
|
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys)
|
rs1596298442
|
|
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)
|
rs902767624
|
|
NM_000548.5(TSC2):c.1057C>T (p.Leu353Phe)
|
rs902767624
|
|
NM_000548.5(TSC2):c.1058T>C (p.Leu353Pro)
|
rs2151137215
|
|
NM_000548.5(TSC2):c.1061A>G (p.Gln354Arg)
|
|
|
NM_000548.5(TSC2):c.1061A>T (p.Gln354Leu)
|
|
|
NM_000548.5(TSC2):c.1064T>G (p.Val355Gly)
|
|
|
NM_000548.5(TSC2):c.1069G>A (p.Ala357Thr)
|
|
|
NM_000548.5(TSC2):c.1070C>A (p.Ala357Glu)
|
rs150195368
|
|
NM_000548.5(TSC2):c.1077C>A (p.Asp359Glu)
|
|
|
NM_000548.5(TSC2):c.1078A>G (p.Ile360Val)
|
rs1555500560
|
|
NM_000548.5(TSC2):c.107C>T (p.Thr36Met)
|
rs376280172
|
|
NM_000548.5(TSC2):c.1080T>G (p.Ile360Met)
|
rs2086534827
|
|
NM_000548.5(TSC2):c.1088A>G (p.Asn363Ser)
|
rs1567423658
|
|
NM_000548.5(TSC2):c.1088A>T (p.Asn363Ile)
|
rs1567423658
|
|
NM_000548.5(TSC2):c.1090A>G (p.Ile364Val)
|
rs2086536512
|
|
NM_000548.5(TSC2):c.1095C>G (p.Ile365Met)
|
rs757135168
|
|
NM_000548.5(TSC2):c.109G>A (p.Glu37Lys)
|
|
|
NM_000548.5(TSC2):c.10C>T (p.Pro4Ser)
|
|
|
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro)
|
rs1800725
|
|
NM_000548.5(TSC2):c.1100G>T (p.Arg367Leu)
|
rs1800725
|
|
NM_000548.5(TSC2):c.1102C>T (p.Leu368Phe)
|
rs1567423904
|
|
NM_000548.5(TSC2):c.1105C>A (p.Leu369Ile)
|
rs1195544121
|
|
NM_000548.5(TSC2):c.1105C>T (p.Leu369Phe)
|
|
|
NM_000548.5(TSC2):c.1109AGC[1] (p.Gln371del)
|
|
|
NM_000548.5(TSC2):c.110A>T (p.Glu37Val)
|
|
|
NM_000548.5(TSC2):c.1112A>C (p.Gln371Pro)
|
|
|
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg)
|
rs1555500581
|
|
NM_000548.5(TSC2):c.1113G>T (p.Gln371His)
|
|
|
NM_000548.5(TSC2):c.1114C>T (p.Leu372Phe)
|
|
|
NM_000548.5(TSC2):c.1117C>A (p.Gln373Lys)
|
rs45458694
|
|
NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg)
|
rs397515131
|
|
NM_000548.5(TSC2):c.1119+19C>G
|
rs2151140026
|
|
NM_000548.5(TSC2):c.1119+3G>A
|
rs79668097
|
|
NM_000548.5(TSC2):c.1119+4G>C
|
|
|
NM_000548.5(TSC2):c.1119+5G>A
|
|
|
NM_000548.5(TSC2):c.1119+5G>C
|
rs2086542949
|
|
NM_000548.5(TSC2):c.1119+5G>T
|
rs2086542949
|
|
NM_000548.5(TSC2):c.1119+6G>A
|
rs397515305
|
|
NM_000548.5(TSC2):c.1119+6G>T
|
rs397515305
|
|
NM_000548.5(TSC2):c.1120-10G>A
|
rs2151153517
|
|
NM_000548.5(TSC2):c.1120A>G (p.Thr374Ala)
|
|
|
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser)
|
rs1440918649
|
|
NM_000548.5(TSC2):c.1121C>T (p.Thr374Ile)
|
|
|
NM_000548.5(TSC2):c.1125G>C (p.Leu375Phe)
|
|
|
NM_000548.5(TSC2):c.1126G>A (p.Asp376Asn)
|
rs1060500976
|
|
NM_000548.5(TSC2):c.1128C>G (p.Asp376Glu)
|
|
|
NM_000548.5(TSC2):c.1130G>A (p.Ser377Asn)
|
rs2086680090
|
|
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)
|
rs201525586
|
|
NM_000548.5(TSC2):c.1132C>G (p.Pro378Ala)
|
rs2151154104
|
|
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)
|
rs45517154
|
|
NM_000548.5(TSC2):c.1138C>G (p.Leu380Val)
|
|
|
NM_000548.5(TSC2):c.1138C>T (p.Leu380Phe)
|
rs2151154287
|
|
NM_000548.5(TSC2):c.113T>C (p.Phe38Ser)
|
rs745604417
|
|
NM_000548.5(TSC2):c.1144A>T (p.Thr382Ser)
|
rs2086683040
|
|
NM_000548.5(TSC2):c.1147A>G (p.Ile383Val)
|
|
|
NM_000548.5(TSC2):c.1149C>G (p.Ile383Met)
|
rs764246333
|
|
NM_000548.5(TSC2):c.1153C>G (p.His385Asp)
|
rs1410290642
|
|
NM_000548.5(TSC2):c.1157A>G (p.Asp386Gly)
|
|
|
NM_000548.5(TSC2):c.1159C>G (p.Leu387Val)
|
|
|
NM_000548.5(TSC2):c.115A>G (p.Ile39Val)
|
|
|
NM_000548.5(TSC2):c.1165A>G (p.Thr389Ala)
|
|
|
NM_000548.5(TSC2):c.1168A>T (p.Thr390Ser)
|
rs2086688013
|
|
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)
|
rs1596303442
|
|
NM_000548.5(TSC2):c.116T>A (p.Ile39Asn)
|
|
|
NM_000548.5(TSC2):c.116TCA[1] (p.Ile40del)
|
rs2150973192
|
|
NM_000548.5(TSC2):c.1171G>A (p.Val391Met)
|
rs1555501071
|
|
NM_000548.5(TSC2):c.1171G>T (p.Val391Leu)
|
|
|
NM_000548.5(TSC2):c.1172_1174del (p.Val391del)
|
rs1567428371
|
|
NM_000548.5(TSC2):c.1176G>T (p.Glu392Asp)
|
|
|
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)
|
rs1026632436
|
|
NM_000548.5(TSC2):c.1186G>C (p.Asp396His)
|
rs1596303501
|
|
NM_000548.5(TSC2):c.1188C>G (p.Asp396Glu)
|
|
|
NM_000548.5(TSC2):c.118A>G (p.Ile40Val)
|
rs2084683845
|
|
NM_000548.5(TSC2):c.118A>T (p.Ile40Phe)
|
|
|
NM_000548.5(TSC2):c.1191G>C (p.Gln397His)
|
rs2086690848
|
|
NM_000548.5(TSC2):c.1194C>G (p.Asn398Lys)
|
|
|
NM_000548.5(TSC2):c.119T>C (p.Ile40Thr)
|
rs587781758
|
|
NM_000548.5(TSC2):c.1202A>G (p.His401Arg)
|
rs2086691569
|
|
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)
|
rs771561593
|
|
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val)
|
rs777172185
|
|
NM_000548.5(TSC2):c.1208C>G (p.Ser403Cys)
|
rs1555501098
|
|
NM_000548.5(TSC2):c.1208C>T (p.Ser403Phe)
|
rs1555501098
|
|
NM_000548.5(TSC2):c.1213G>A (p.Glu405Lys)
|
|
|
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)
|
rs1057518321
|
|
NM_000548.5(TSC2):c.1216A>G (p.Arg406Gly)
|
rs2151156367
|
|
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys)
|
rs2086693907
|
|
NM_000548.5(TSC2):c.121A>G (p.Thr41Ala)
|
rs1596234558
|
|
NM_000548.5(TSC2):c.121A>T (p.Thr41Ser)
|
rs1596234558
|
|
NM_000548.5(TSC2):c.1220A>G (p.Tyr407Cys)
|
rs1596303621
|
|
NM_000548.5(TSC2):c.1220A>T (p.Tyr407Phe)
|
rs1596303621
|
|
NM_000548.5(TSC2):c.1223T>G (p.Phe408Cys)
|
rs1555501123
|
|
NM_000548.5(TSC2):c.1228C>G (p.Leu410Val)
|
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1231G>A (p.Val411Met)
|
|
|
NM_000548.5(TSC2):c.1231G>T (p.Val411Leu)
|
rs1567428822
|
|
NM_000548.5(TSC2):c.1233G>A (p.Val411=)
|
rs2086697274
|
|
NM_000548.5(TSC2):c.1234G>C (p.Glu412Gln)
|
rs1596303713
|
|
NM_000548.5(TSC2):c.1235A>G (p.Glu412Gly)
|
rs137854026
|
|
NM_000548.5(TSC2):c.1237A>G (p.Arg413Gly)
|
rs2151156876
|
|
NM_000548.5(TSC2):c.1239A>T (p.Arg413Ser)
|
rs1596303739
|
|
NM_000548.5(TSC2):c.1240T>A (p.Cys414Ser)
|
rs1057523509
|
|
NM_000548.5(TSC2):c.1242T>G (p.Cys414Trp)
|
rs2151156989
|
|
NM_000548.5(TSC2):c.1246G>A (p.Asp416Asn)
|
rs45517157
|
|
NM_000548.5(TSC2):c.1247A>C (p.Asp416Ala)
|
rs117111015
|
|
NM_000548.5(TSC2):c.1248C>G (p.Asp416Glu)
|
rs1555501144
|
|
NM_000548.5(TSC2):c.124G>A (p.Ala42Thr)
|
|
|
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)
|
rs1237876686
|
|
NM_000548.5(TSC2):c.1257+16G>A
|
|
|
NM_000548.5(TSC2):c.1257+6A>G
|
rs2151157450
|
|
NM_000548.5(TSC2):c.1257+9C>G
|
|
|
NM_000548.5(TSC2):c.1258-3C>A
|
rs45517161
|
|
NM_000548.5(TSC2):c.1258-3C>G
|
rs45517161
|
|
NM_000548.5(TSC2):c.1258-3C>T
|
|
|
NM_000548.5(TSC2):c.1258G>A (p.Glu420Lys)
|
rs796053484
|
|
NM_000548.5(TSC2):c.1258G>C (p.Glu420Gln)
|
|
|
NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)
|
|
|
NM_000548.5(TSC2):c.1261T>A (p.Ser421Thr)
|
rs2086765786
|
|
NM_000548.5(TSC2):c.1261T>C (p.Ser421Pro)
|
|
|
NM_000548.5(TSC2):c.1262C>T (p.Ser421Phe)
|
rs2151163260
|
|
NM_000548.5(TSC2):c.1265C>T (p.Ser422Phe)
|
rs2151163315
|
|
NM_000548.5(TSC2):c.1267C>T (p.Leu423Phe)
|
rs746586340
|
|
NM_000548.5(TSC2):c.1268T>C (p.Leu423Pro)
|
|
|
NM_000548.5(TSC2):c.1271T>G (p.Leu424Arg)
|
rs1468287623
|
|
NM_000548.5(TSC2):c.1274A>G (p.Asn425Ser)
|
|
|
NM_000548.5(TSC2):c.1275C>A (p.Asn425Lys)
|
rs878854076
|
|
NM_000548.5(TSC2):c.1279A>G (p.Ile427Val)
|
rs1202399787
|
|
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)
|
rs2084685904
|
|
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)
|
rs45478892
|
|
NM_000548.5(TSC2):c.1285T>A (p.Tyr429Asn)
|
rs2151163734
|
|
NM_000548.5(TSC2):c.1285T>C (p.Tyr429His)
|
|
|
NM_000548.5(TSC2):c.1286A>T (p.Tyr429Phe)
|
|
|
NM_000548.5(TSC2):c.1288A>G (p.Arg430Gly)
|
|
|
NM_000548.5(TSC2):c.1289G>C (p.Arg430Thr)
|
rs2086770532
|
|
NM_000548.5(TSC2):c.1291G>C (p.Ala431Pro)
|
rs2086770794
|
|
NM_000548.5(TSC2):c.1297T>G (p.Ser433Ala)
|
rs1335355737
|
|
NM_000548.5(TSC2):c.1298C>A (p.Ser433Tyr)
|
rs397515187
|
|
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)
|
rs397515187
|
|
NM_000548.5(TSC2):c.1303C>A (p.His435Asn)
|
rs760896048
|
|
NM_000548.5(TSC2):c.1304A>C (p.His435Pro)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1304A>G (p.His435Arg)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1304A>T (p.His435Leu)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1304_1306del (p.His435del)
|
rs1596305698
|
|
NM_000548.5(TSC2):c.1306C>A (p.Pro436Thr)
|
rs1489429320
|
|
NM_000548.5(TSC2):c.1306C>G (p.Pro436Ala)
|
rs1489429320
|
|
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1307C>G (p.Pro436Arg)
|
rs796053485
|
|
NM_000548.5(TSC2):c.130A>G (p.Ile44Val)
|
rs1555494697
|
|
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)
|
rs777457815
|
|
NM_000548.5(TSC2):c.1326T>G (p.Ile442Met)
|
rs2086776250
|
|
NM_000548.5(TSC2):c.1327C>G (p.Gln443Glu)
|
|
|
NM_000548.5(TSC2):c.132A>G (p.Ile44Met)
|
rs796053508
|
|
NM_000548.5(TSC2):c.1330A>C (p.Asn444His)
|
rs2151164750
|
|
NM_000548.5(TSC2):c.1332C>A (p.Asn444Lys)
|
|
|
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys)
|
rs535984356
|
|
NM_000548.5(TSC2):c.1337A>G (p.Gln446Arg)
|
|
|
NM_000548.5(TSC2):c.133C>G (p.Leu45Val)
|
rs1555494707
|
|
NM_000548.5(TSC2):c.1340C>G (p.Ala447Gly)
|
rs45486591
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000548.5(TSC2):c.1345A>T (p.Met449Leu)
|
rs1555501441
|
|
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys)
|
rs1057520875
|
|
NM_000548.5(TSC2):c.1346T>C (p.Met449Thr)
|
rs1057520875
|
|
NM_000548.5(TSC2):c.1346T>G (p.Met449Arg)
|
rs1057520875
|
|
NM_000548.5(TSC2):c.1347G>A (p.Met449Ile)
|
rs45443091
|
|
NM_000548.5(TSC2):c.134T>C (p.Leu45Pro)
|
rs1383831944
|
|
NM_000548.5(TSC2):c.1354T>A (p.Phe452Ile)
|
|
|
NM_000548.5(TSC2):c.1355T>A (p.Phe452Tyr)
|
|
|
NM_000548.5(TSC2):c.1356C>G (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1360A>G (p.Arg454Gly)
|
rs2086780236
|
|
NM_000548.5(TSC2):c.1361+3A>G
|
rs1567431655
|
|
NM_000548.5(TSC2):c.1361+4G>A
|
rs2086781300
|
|
NM_000548.5(TSC2):c.1361+5G>A
|
rs2086781791
|
|
NM_000548.5(TSC2):c.1361+5G>T
|
|
|
NM_000548.5(TSC2):c.1361+6G>A
|
rs1596305980
|
|
NM_000548.5(TSC2):c.1362-3C>G
|
|
|
NM_000548.5(TSC2):c.1362-5C>G
|
rs372424945
|
|
NM_000548.5(TSC2):c.1362-6C>A
|
rs2086820146
|
|
NM_000548.5(TSC2):c.1362-7C>A
|
rs1555501647
|
|
NM_000548.5(TSC2):c.1362G>A (p.Arg454=)
|
|
|
NM_000548.5(TSC2):c.1363A>G (p.Ser455Gly)
|
|
|
NM_000548.5(TSC2):c.1364G>A (p.Ser455Asn)
|
rs1567432782
|
|
NM_000548.5(TSC2):c.1366G>C (p.Glu456Gln)
|
|
|
NM_000548.5(TSC2):c.1368G>C (p.Glu456Asp)
|
rs2151170835
|
|
NM_000548.5(TSC2):c.1369T>A (p.Ser457Thr)
|
rs2151170866
|
|
NM_000548.5(TSC2):c.1369T>C (p.Ser457Pro)
|
|
|
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr)
|
rs1278503244
|
|
NM_000548.5(TSC2):c.1370C>T (p.Ser457Phe)
|
rs1278503244
|
|
NM_000548.5(TSC2):c.1375G>A (p.Gly459Ser)
|
|
|
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys)
|
rs1567432890
|
|
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp)
|
rs886051788
|
|
NM_000548.5(TSC2):c.1378G>C (p.Ala460Pro)
|
|
|
NM_000548.5(TSC2):c.138+10C>G
|
rs748932830
|
|
NM_000548.5(TSC2):c.138+10C>T
|
|
|
NM_000548.5(TSC2):c.138+6_138+9del
|
rs2084688881
|
|
NM_000548.5(TSC2):c.1381G>C (p.Val461Leu)
|
rs796053486
|
|
NM_000548.5(TSC2):c.1382T>C (p.Val461Ala)
|
rs2086823656
|
|
NM_000548.5(TSC2):c.1384C>G (p.Arg462Gly)
|
rs397515261
|
|
NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys)
|
rs397515261
|
|
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)
|
rs45494392
|
|
NM_000548.5(TSC2):c.1385G>C (p.Arg462Pro)
|
|
|
NM_000548.5(TSC2):c.1385_1396del (p.Arg462_Val465del)
|
|
|
NM_000548.5(TSC2):c.1388T>A (p.Ile463Asn)
|
rs1060500940
|
|
NM_000548.5(TSC2):c.1388T>G (p.Ile463Ser)
|
rs1060500940
|
|
NM_000548.5(TSC2):c.139-6C>G
|
rs778516569
|
|
NM_000548.5(TSC2):c.1390A>C (p.Lys464Gln)
|
rs1555501694
|
|
NM_000548.5(TSC2):c.1390A>G (p.Lys464Glu)
|
rs1555501694
|
|
NM_000548.5(TSC2):c.1391A>C (p.Lys464Thr)
|
|
|
NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg)
|
rs1033108057
|
|
NM_000548.5(TSC2):c.1392G>C (p.Lys464Asn)
|
|
|
NM_000548.5(TSC2):c.1400A>G (p.Asp467Gly)
|
rs1060500977
|
|
NM_000548.5(TSC2):c.1402G>A (p.Val468Met)
|
rs1158055650
|
|
NM_000548.5(TSC2):c.1406T>C (p.Leu469Pro)
|
|
|
NM_000548.5(TSC2):c.1411T>C (p.Phe471Leu)
|
|
|
NM_000548.5(TSC2):c.1415T>G (p.Val472Gly)
|
rs2151172463
|
|
NM_000548.5(TSC2):c.1417C>G (p.Leu473Val)
|
rs1321215329
|
|
NM_000548.5(TSC2):c.1418T>A (p.Leu473Gln)
|
rs2086830486
|
|
NM_000548.5(TSC2):c.1419G>T (p.Leu473=)
|
|
|
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp)
|
rs137854133
|
|
NM_000548.5(TSC2):c.1426A>C (p.Asn476His)
|
|
|
NM_000548.5(TSC2):c.1427A>C (p.Asn476Thr)
|
rs2086831741
|
|
NM_000548.5(TSC2):c.1429A>G (p.Arg477Gly)
|
|
|
NM_000548.5(TSC2):c.1432C>A (p.Gln478Lys)
|
|
|
NM_000548.5(TSC2):c.1433A>G (p.Gln478Arg)
|
rs1555501733
|
|
NM_000548.5(TSC2):c.1433A>T (p.Gln478Leu)
|
|
|
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu)
|
rs2151173141
|
|
NM_000548.5(TSC2):c.1437C>G (p.Phe479Leu)
|
|
|
NM_000548.5(TSC2):c.1439A>G (p.Tyr480Cys)
|
rs2086832697
|
|
NM_000548.5(TSC2):c.1442A>G (p.Glu481Gly)
|
|
|
NM_000548.5(TSC2):c.1443+11_1443+12delinsTT
|
|
|
NM_000548.5(TSC2):c.1443+3G>A
|
|
|
NM_000548.5(TSC2):c.1443+5G>A
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1443G>A (p.Glu481=)
|
rs137854876
|
|
NM_000548.5(TSC2):c.1443G>T (p.Glu481Asp)
|
|
|
NM_000548.5(TSC2):c.1444-15C>G
|
|
|
NM_000548.5(TSC2):c.1444-33_1444-18del
|
|
|
NM_000548.5(TSC2):c.1444-3C>A
|
|
|
NM_000548.5(TSC2):c.1444-3C>T
|
rs1484617931
|
|
NM_000548.5(TSC2):c.1444-5T>A
|
rs2087005659
|
|
NM_000548.5(TSC2):c.1444-6G>T
|
|
|
NM_000548.5(TSC2):c.1444-9C>A
|
|
|
NM_000548.5(TSC2):c.1444G>A (p.Glu482Lys)
|
|
|
NM_000548.5(TSC2):c.1444G>C (p.Glu482Gln)
|
rs1308965961
|
|
NM_000548.5(TSC2):c.1447G>C (p.Glu483Gln)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1449G>C (p.Glu483Asp)
|
|
|
NM_000548.5(TSC2):c.1453A>T (p.Ile485Phe)
|
rs2151188401
|
|
NM_000548.5(TSC2):c.1457A>T (p.Asn486Ile)
|
rs45486599
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.1460C>T (p.Ser487Leu)
|
rs2151188579
|
|
NM_000548.5(TSC2):c.1462G>A (p.Val488Met)
|
|
|
NM_000548.5(TSC2):c.1467C>G (p.Val489=)
|
|
|
NM_000548.5(TSC2):c.1469T>C (p.Ile490Thr)
|
|
|
NM_000548.5(TSC2):c.146G>A (p.Ser49Asn)
|
rs2084956276
|
|
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met)
|
rs753344988
|
|
NM_000548.5(TSC2):c.1476G>C (p.Gln492His)
|
rs1596311941
|
|
NM_000548.5(TSC2):c.1477C>T (p.Leu493Phe)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1478T>C (p.Leu493Pro)
|
rs397515029
|
|
NM_000548.5(TSC2):c.1480T>C (p.Ser494Pro)
|
rs1555502412
|
|
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
|
|
|
NM_000548.5(TSC2):c.1483C>G (p.His495Asp)
|
rs2087013241
|
|
NM_000548.5(TSC2):c.1483C>T (p.His495Tyr)
|
rs2087013241
|
|
NM_000548.5(TSC2):c.1486A>C (p.Ile496Leu)
|
rs1211121251
|
|
NM_000548.5(TSC2):c.1486A>G (p.Ile496Val)
|
|
|
NM_000548.5(TSC2):c.1489C>A (p.Pro497Thr)
|
|
|
NM_000548.5(TSC2):c.1490C>T (p.Pro497Leu)
|
rs1484576810
|
|
NM_000548.5(TSC2):c.1495G>A (p.Asp499Asn)
|
rs1555502438
|
|
NM_000548.5(TSC2):c.1495G>C (p.Asp499His)
|
rs1555502438
|
|
NM_000548.5(TSC2):c.1497T>G (p.Asp499Glu)
|
rs1354915682
|
|
NM_000548.5(TSC2):c.1498A>G (p.Lys500Glu)
|
rs2151189527
|
|
NM_000548.5(TSC2):c.149T>C (p.Met50Thr)
|
rs1060500955
|
|
NM_000548.5(TSC2):c.1501G>A (p.Asp501Asn)
|
|
|
NM_000548.5(TSC2):c.1504C>A (p.His502Asn)
|
rs1567437505
|
|
NM_000548.5(TSC2):c.1507C>G (p.Gln503Glu)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1508A>G (p.Gln503Arg)
|
rs1567437568
|
|
NM_000548.5(TSC2):c.1509G>C (p.Gln503His)
|
|
|
NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1517A>G (p.Lys506Arg)
|
|
|
NM_000548.5(TSC2):c.1518G>T (p.Lys506Asn)
|
|
|
NM_000548.5(TSC2):c.1519C>G (p.Leu507Val)
|
|
|
NM_000548.5(TSC2):c.151G>C (p.Glu51Gln)
|
rs910205065
|
|
NM_000548.5(TSC2):c.1522G>A (p.Ala508Thr)
|
rs2087020192
|
|
NM_000548.5(TSC2):c.1522G>C (p.Ala508Pro)
|
|
|
NM_000548.5(TSC2):c.1525A>G (p.Thr509Ala)
|
rs1042656602
|
|
NM_000548.5(TSC2):c.1526C>G (p.Thr509Ser)
|
rs2151190252
|
|
NM_000548.5(TSC2):c.1529A>C (p.Gln510Pro)
|
rs1596312182
|
|
NM_000548.5(TSC2):c.1529A>G (p.Gln510Arg)
|
rs1596312182
|
|
NM_000548.5(TSC2):c.1533G>C (p.Leu511Phe)
|
|
|
NM_000548.5(TSC2):c.1537G>A (p.Val513Met)
|
|
|
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp)
|
rs746366461
|
|
NM_000548.5(TSC2):c.1541A>G (p.Asp514Gly)
|
rs2087022663
|
|
NM_000548.5(TSC2):c.1542C>G (p.Asp514Glu)
|
rs2151190617
|
|
NM_000548.5(TSC2):c.1546G>T (p.Ala516Ser)
|
rs2151190732
|
|
NM_000548.5(TSC2):c.1547C>T (p.Ala516Val)
|
rs2151190764
|
|
NM_000548.5(TSC2):c.154T>C (p.Cys52Arg)
|
rs2084958377
|
|
NM_000548.5(TSC2):c.1555T>G (p.Cys519Gly)
|
rs1156554876
|
|
NM_000548.5(TSC2):c.1556G>C (p.Cys519Ser)
|
|
|
NM_000548.5(TSC2):c.1559A>G (p.His520Arg)
|
rs1220672669
|
|
NM_000548.5(TSC2):c.1560C>G (p.His520Gln)
|
rs1596312329
|
|
NM_000548.5(TSC2):c.1564C>G (p.His522Asp)
|
rs397514991
|
|
NM_000548.5(TSC2):c.1564C>T (p.His522Tyr)
|
rs397514991
|
|
NM_000548.5(TSC2):c.1564CAC[1] (p.His523del)
|
rs2087028639
|
|
NM_000548.5(TSC2):c.1565A>G (p.His522Arg)
|
rs397515147
|
|
NM_000548.5(TSC2):c.1566C>A (p.His522Gln)
|
|
|
NM_000548.5(TSC2):c.1566C>G (p.His522Gln)
|
|
|
NM_000548.5(TSC2):c.1567C>T (p.His523Tyr)
|
rs1567438108
|
|
NM_000548.5(TSC2):c.1572C>G (p.Phe524Leu)
|
rs2151191560
|
|
NM_000548.5(TSC2):c.1582C>G (p.Leu528Val)
|
|
|
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr)
|
rs2151191974
|
|
NM_000548.5(TSC2):c.1590C>G (p.Ile530Met)
|
rs2151191998
|
|
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met)
|
rs45517180
|
|
NM_000548.5(TSC2):c.1599G>A (p.Lys533=)
|
rs1555502589
|
|
NM_000548.5(TSC2):c.1600-3A>G
|
rs45517186
|
|
NM_000548.5(TSC2):c.1600-7_1600-6del
|
|
|
NM_000548.5(TSC2):c.1600-9_1600-5del
|
rs2151205718
|
|
NM_000548.5(TSC2):c.1600G>A (p.Val534Met)
|
rs587778729
|
|
NM_000548.5(TSC2):c.1604T>A (p.Met535Lys)
|
|
|
NM_000548.5(TSC2):c.1605G>A (p.Met535Ile)
|
rs2151206304
|
|
NM_000548.5(TSC2):c.1606G>A (p.Ala536Thr)
|
|
|
NM_000548.5(TSC2):c.1609C>A (p.Arg537Ser)
|
rs142257684
|
|
NM_000548.5(TSC2):c.1609C>G (p.Arg537Gly)
|
rs142257684
|
|
NM_000548.5(TSC2):c.160C>G (p.Leu54Val)
|
rs1394176023
|
|
NM_000548.5(TSC2):c.160C>T (p.Leu54Phe)
|
rs1394176023
|
|
NM_000548.5(TSC2):c.1610G>C (p.Arg537Pro)
|
rs372681603
|
|
NM_000548.5(TSC2):c.1610G>T (p.Arg537Leu)
|
rs372681603
|
|
NM_000548.5(TSC2):c.1615C>G (p.Leu539Val)
|
rs2087226024
|
|
NM_000548.5(TSC2):c.1615C>T (p.Leu539Phe)
|
rs2087226024
|
|
NM_000548.5(TSC2):c.1616T>C (p.Leu539Pro)
|
|
|
NM_000548.5(TSC2):c.161T>G (p.Leu54Arg)
|
|
|
NM_000548.5(TSC2):c.1621C>A (p.Pro541Thr)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1621C>G (p.Pro541Ala)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1621C>T (p.Pro541Ser)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1622C>A (p.Pro541Gln)
|
rs752953762
|
|
NM_000548.5(TSC2):c.1624C>A (p.Pro542Thr)
|
rs891347695
|
|
NM_000548.5(TSC2):c.1624C>G (p.Pro542Ala)
|
rs891347695
|
|
NM_000548.5(TSC2):c.1625C>A (p.Pro542His)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1625C>G (p.Pro542Arg)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1627C>G (p.Pro543Ala)
|
|
|
NM_000548.5(TSC2):c.162CAA[1] (p.Asn56del)
|
|
|
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp)
|
rs137854075
|
|
NM_000548.5(TSC2):c.1633C>G (p.Leu545Val)
|
rs1060504103
|
|
NM_000548.5(TSC2):c.1634T>C (p.Leu545Pro)
|
|
|
NM_000548.5(TSC2):c.163A>C (p.Asn55His)
|
rs2084958940
|
|
NM_000548.5(TSC2):c.1640A>G (p.Glu547Gly)
|
rs2087231131
|
|
NM_000548.5(TSC2):c.1642A>G (p.Arg548Gly)
|
rs565375272
|
|
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr)
|
rs748938385
|
|
NM_000548.5(TSC2):c.1646A>C (p.Asp549Ala)
|
|
|
NM_000548.5(TSC2):c.1646A>T (p.Asp549Val)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.1648G>A (p.Val550Met)
|
rs2087232543
|
|
NM_000548.5(TSC2):c.164A>G (p.Asn55Ser)
|
rs1555495709
|
|
NM_000548.5(TSC2):c.1655C>T (p.Ala552Val)
|
rs1555503231
|
|
NM_000548.5(TSC2):c.1660T>A (p.Ser554Thr)
|
rs1596317415
|
|
NM_000548.5(TSC2):c.1660T>C (p.Ser554Pro)
|
rs1596317415
|
|
NM_000548.5(TSC2):c.1661C>G (p.Ser554Trp)
|
|
|
NM_000548.5(TSC2):c.1663G>T (p.Ala555Ser)
|
rs763183991
|
|
NM_000548.5(TSC2):c.1666T>C (p.Ser556Pro)
|
|
|
NM_000548.5(TSC2):c.1667C>T (p.Ser556Phe)
|
rs2087235893
|
|
NM_000548.5(TSC2):c.1669T>A (p.Leu557Met)
|
|
|
NM_000548.5(TSC2):c.1669T>G (p.Leu557Val)
|
|
|
NM_000548.5(TSC2):c.1670T>G (p.Leu557Trp)
|
|
|
NM_000548.5(TSC2):c.1673A>G (p.Glu558Gly)
|
rs1596317476
|
|
NM_000548.5(TSC2):c.1673A>T (p.Glu558Val)
|
rs1596317476
|
|
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr)
|
rs1555503254
|
|
NM_000548.5(TSC2):c.1676A>G (p.Asp559Gly)
|
rs767619776
|
|
NM_000548.5(TSC2):c.167A>T (p.Asn56Ile)
|
rs144165984
|
|
NM_000548.5(TSC2):c.1683G>T (p.Lys561Asn)
|
|
|
NM_000548.5(TSC2):c.1688C>T (p.Ala563Val)
|
|
|
NM_000548.5(TSC2):c.1693C>G (p.Leu565Val)
|
rs878854078
|
|
NM_000548.5(TSC2):c.1694T>A (p.Leu565Gln)
|
rs2087239987
|
|
NM_000548.5(TSC2):c.1694T>C (p.Leu565Pro)
|
rs2087239987
|
|
NM_000548.5(TSC2):c.1696G>A (p.Gly566Arg)
|
rs1596317594
|
|
NM_000548.5(TSC2):c.1699C>T (p.Leu567Phe)
|
rs2087240694
|
|
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly)
|
rs1555494544
|
|
NM_000548.5(TSC2):c.16A>T (p.Ser6Cys)
|
rs1555494544
|
|
NM_000548.5(TSC2):c.1702C>G (p.Leu568Val)
|
|
|
NM_000548.5(TSC2):c.1706T>A (p.Val569Asp)
|
|
|
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val)
|
rs397515230
|
|
NM_000548.5(TSC2):c.1711C>T (p.Leu571Phe)
|
rs1596317641
|
|
NM_000548.5(TSC2):c.1714C>G (p.Gln572Glu)
|
|
|
NM_000548.5(TSC2):c.1715A>C (p.Gln572Pro)
|
rs1596317664
|
|
NM_000548.5(TSC2):c.1716+3G>A
|
rs1596317691
|
|
NM_000548.5(TSC2):c.1716+4G>C
|
|
|
NM_000548.5(TSC2):c.1716G>A (p.Gln572=)
|
rs397514917
|
|
NM_000548.5(TSC2):c.1717-3C>T
|
rs2151277529
|
|
NM_000548.5(TSC2):c.1717-3del
|
|
|
NM_000548.5(TSC2):c.1717-5T>A
|
rs2088113456
|
|
NM_000548.5(TSC2):c.1717-6C>G
|
rs1596335934
|
|
NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)
|
|
|
NM_000548.5(TSC2):c.1720A>G (p.Lys574Glu)
|
rs2088115626
|
|
NM_000548.5(TSC2):c.1723C>G (p.Leu575Val)
|
rs1419122104
|
|
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro)
|
rs1567456901
|
|
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
|
|
|
NM_000548.5(TSC2):c.1726T>C (p.Tyr576His)
|
|
|
NM_000548.5(TSC2):c.172A>G (p.Ile58Val)
|
rs2084960700
|
|
NM_000548.5(TSC2):c.1735C>A (p.Pro579Thr)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1738G>A (p.Ala580Thr)
|
rs1596336167
|
|
NM_000548.5(TSC2):c.1739C>T (p.Ala580Val)
|
rs765043471
|
|
NM_000548.5(TSC2):c.1741A>T (p.Ser581Cys)
|
rs2151278580
|
|
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn)
|
rs45517197
|
|
NM_000548.5(TSC2):c.1742G>T (p.Ser581Ile)
|
rs45517197
|
|
NM_000548.5(TSC2):c.1744C>G (p.His582Asp)
|
rs1385373190
|
|
NM_000548.5(TSC2):c.1745A>G (p.His582Arg)
|
rs2088124334
|
|
NM_000548.5(TSC2):c.1745A>T (p.His582Leu)
|
rs2088124334
|
|
NM_000548.5(TSC2):c.1746C>A (p.His582Gln)
|
rs876658921
|
|
NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly)
|
rs370324876
|
|
NM_000548.5(TSC2):c.1754G>T (p.Arg585Leu)
|
|
|
NM_000548.5(TSC2):c.1757T>C (p.Val586Ala)
|
rs2088127954
|
|
NM_000548.5(TSC2):c.1757T>G (p.Val586Gly)
|
|
|
NM_000548.5(TSC2):c.1759T>C (p.Tyr587His)
|
rs1555505094
|
|
NM_000548.5(TSC2):c.175C>A (p.Arg59=)
|
rs1015282988
|
|
NM_000548.5(TSC2):c.1760A>G (p.Tyr587Cys)
|
rs1487642536
|
|
NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys)
|
rs1596336374
|
|
NM_000548.5(TSC2):c.1763A>T (p.Glu588Val)
|
|
|
NM_000548.5(TSC2):c.1764G>C (p.Glu588Asp)
|
rs2088130143
|
|
NM_000548.5(TSC2):c.1765A>G (p.Met589Val)
|
rs1567457356
|
|
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys)
|
rs796053487
|
|
NM_000548.5(TSC2):c.1766T>C (p.Met589Thr)
|
|
|
NM_000548.5(TSC2):c.1766T>G (p.Met589Arg)
|
rs796053487
|
|
NM_000548.5(TSC2):c.1767G>C (p.Met589Ile)
|
|
|
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)
|
rs1161261925
|
|
NM_000548.5(TSC2):c.176G>C (p.Arg59Pro)
|
rs1161261925
|
|
NM_000548.5(TSC2):c.1771G>C (p.Val591Leu)
|
|
|
NM_000548.5(TSC2):c.1772T>G (p.Val591Gly)
|
|
|
NM_000548.5(TSC2):c.1775G>C (p.Ser592Thr)
|
|
|
NM_000548.5(TSC2):c.1776C>G (p.Ser592Arg)
|
|
|
NM_000548.5(TSC2):c.1777C>T (p.His593Tyr)
|
rs1555505123
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
NM_000548.5(TSC2):c.1780A>G (p.Ile594Val)
|
rs1555505128
|
|
NM_000548.5(TSC2):c.1786C>A (p.Leu596Ile)
|
rs2088136491
|
|
NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)
|
|
|
NM_000548.5(TSC2):c.1787T>A (p.Leu596His)
|
rs45517200
|
|
NM_000548.5(TSC2):c.178A>T (p.Met60Leu)
|
rs1053960780
|
|
NM_000548.5(TSC2):c.1790A>T (p.His597Leu)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1791C>G (p.His597Gln)
|
rs886038350
|
|
NM_000548.5(TSC2):c.1793A>T (p.Tyr598Phe)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1795A>G (p.Lys599Glu)
|
rs2088139595
|
|
NM_000548.5(TSC2):c.1798C>G (p.His600Asp)
|
rs775390128
|
|
NM_000548.5(TSC2):c.1800C>A (p.His600Gln)
|
rs762782913
|
|
NM_000548.5(TSC2):c.1801A>G (p.Ser601Gly)
|
|
|
NM_000548.5(TSC2):c.1802G>A (p.Ser601Asn)
|
rs2151281011
|
|
NM_000548.5(TSC2):c.1803C>A (p.Ser601Arg)
|
rs1044401463
|
|
NM_000548.5(TSC2):c.1804T>C (p.Tyr602His)
|
|
|
NM_000548.5(TSC2):c.1805A>G (p.Tyr602Cys)
|
rs1596336738
|
|
NM_000548.5(TSC2):c.1807A>T (p.Thr603Ser)
|
rs876660140
|
|
NM_000548.5(TSC2):c.1808C>G (p.Thr603Ser)
|
rs1318655892
|
|
NM_000548.5(TSC2):c.1813C>A (p.Pro605Thr)
|
rs1295352648
|
|
NM_000548.5(TSC2):c.1813C>T (p.Pro605Ser)
|
rs1295352648
|
|
NM_000548.5(TSC2):c.1814C>T (p.Pro605Leu)
|
rs1555505178
|
|
NM_000548.5(TSC2):c.1816A>T (p.Ile606Phe)
|
|
|
NM_000548.5(TSC2):c.1817T>C (p.Ile606Thr)
|
|
|
NM_000548.5(TSC2):c.1818C>G (p.Ile606Met)
|
rs547389841
|
|
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser)
|
rs45517203
|
|
NM_000548.5(TSC2):c.181A>G (p.Ile61Val)
|
rs2084961446
|
|
NM_000548.5(TSC2):c.181A>T (p.Ile61Leu)
|
rs2084961446
|
|
NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu)
|
rs397515296
|
|
NM_000548.5(TSC2):c.1823G>A (p.Ser608Asn)
|
rs753235037
|
|
NM_000548.5(TSC2):c.1823GCA[3] (p.Ser609dup)
|
rs137854260
|
|
NM_000548.5(TSC2):c.1828A>C (p.Ile610Leu)
|
|
|
NM_000548.5(TSC2):c.1834C>G (p.Leu612Val)
|
rs1192397083
|
|
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)
|
rs1567458244
|
|
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg)
|
rs2151282389
|
|
NM_000548.5(TSC2):c.1839+3A>G
|
rs1596336981
|
|
NM_000548.5(TSC2):c.1839+3A>T
|
rs1596336981
|
|
NM_000548.5(TSC2):c.1839G>A (p.Gln613=)
|
rs1555505208
|
|
NM_000548.5(TSC2):c.183A>G (p.Ile61Met)
|
rs2084961841
|
|
NM_000548.5(TSC2):c.1840-18C>G
|
|
|
NM_000548.5(TSC2):c.1840-3C>A
|
|
|
NM_000548.5(TSC2):c.1840-3C>G
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840-6T>A
|
rs747952317
|
|
NM_000548.5(TSC2):c.1840-8C>G
|
rs778905320
|
|
NM_000548.5(TSC2):c.1843T>G (p.Phe615Val)
|
rs1446136662
|
|
NM_000548.5(TSC2):c.1846G>A (p.Asp616Asn)
|
|
|
NM_000548.5(TSC2):c.1847A>C (p.Asp616Ala)
|
rs2151296149
|
|
NM_000548.5(TSC2):c.1847A>G (p.Asp616Gly)
|
|
|
NM_000548.5(TSC2):c.1850T>A (p.Phe617Tyr)
|
|
|
NM_000548.5(TSC2):c.1851C>G (p.Phe617Leu)
|
rs1446662814
|
|
NM_000548.5(TSC2):c.1859T>C (p.Leu620Pro)
|
rs1567461912
|
|
NM_000548.5(TSC2):c.185G>A (p.Gly62Glu)
|
rs397515045
|
|
NM_000548.5(TSC2):c.1862T>G (p.Leu621Arg)
|
|
|
NM_000548.5(TSC2):c.1867G>C (p.Ala623Pro)
|
|
|
NM_000548.5(TSC2):c.1867G>T (p.Ala623Ser)
|
rs1596342269
|
|
NM_000548.5(TSC2):c.1868C>T (p.Ala623Val)
|
rs1057522306
|
|
NM_000548.5(TSC2):c.1870G>T (p.Asp624Tyr)
|
|
|
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala)
|
rs2151296839
|
|
NM_000548.5(TSC2):c.1872C>G (p.Asp624Glu)
|
rs1596342301
|
|
NM_000548.5(TSC2):c.1876C>G (p.Leu626Val)
|
rs903369062
|
|
NM_000548.5(TSC2):c.1877T>C (p.Leu626Pro)
|
|
|
NM_000548.5(TSC2):c.1879C>A (p.His627Asn)
|
|
|
NM_000548.5(TSC2):c.1879C>T (p.His627Tyr)
|
|
|
NM_000548.5(TSC2):c.1880A>G (p.His627Arg)
|
rs2088392295
|
|
NM_000548.5(TSC2):c.1881C>A (p.His627Gln)
|
rs967430707
|
|
NM_000548.5(TSC2):c.1883G>T (p.Arg628Leu)
|
|
|
NM_000548.5(TSC2):c.1888G>A (p.Gly630Ser)
|
rs2088394240
|
|
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.188A>G (p.Gln63Arg)
|
|
|
NM_000548.5(TSC2):c.188A>T (p.Gln63Leu)
|
rs2150996390
|
|
NM_000548.5(TSC2):c.1895C>G (p.Pro632Arg)
|
rs750663771
|
|
NM_000548.5(TSC2):c.1899C>G (p.Asn633Lys)
|
rs2088398113
|
|
NM_000548.5(TSC2):c.1901A>G (p.Lys634Arg)
|
|
|
NM_000548.5(TSC2):c.1902G>A (p.Lys634=)
|
rs2088398778
|
|
NM_000548.5(TSC2):c.1904A>G (p.Asp635Gly)
|
rs2088399323
|
|
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)
|
rs1596342515
|
|
NM_000548.5(TSC2):c.1906G>A (p.Gly636Arg)
|
|
|
NM_000548.5(TSC2):c.1909G>C (p.Val637Leu)
|
rs2088399918
|
|
NM_000548.5(TSC2):c.190A>C (p.Ile64Leu)
|
|
|
NM_000548.5(TSC2):c.1916G>T (p.Arg639Leu)
|
rs753932484
|
|
NM_000548.5(TSC2):c.1918T>C (p.Phe640Leu)
|
|
|
NM_000548.5(TSC2):c.1921A>G (p.Ser641Gly)
|
|
|
NM_000548.5(TSC2):c.1922G>A (p.Ser641Asn)
|
rs397514964
|
|
NM_000548.5(TSC2):c.1924C>A (p.Pro642Thr)
|
rs889366862
|
|
NM_000548.5(TSC2):c.1924C>T (p.Pro642Ser)
|
|
|
NM_000548.5(TSC2):c.1925C>A (p.Pro642His)
|
rs1408228669
|
|
NM_000548.5(TSC2):c.1928A>T (p.Tyr643Phe)
|
|
|
NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly)
|
rs1567462577
|
|
NM_000548.5(TSC2):c.1937G>A (p.Cys646Tyr)
|
rs1555505863
|
|
NM_000548.5(TSC2):c.1939G>C (p.Asp647His)
|
rs45509392
|
|
NM_000548.5(TSC2):c.1940A>C (p.Asp647Ala)
|
rs2151299187
|
|
NM_000548.5(TSC2):c.1940A>G (p.Asp647Gly)
|
|
|
NM_000548.5(TSC2):c.1941C>G (p.Asp647Glu)
|
rs1326318078
|
|
NM_000548.5(TSC2):c.1942T>C (p.Tyr648His)
|
|
|
NM_000548.5(TSC2):c.1943A>C (p.Tyr648Ser)
|
|
|
NM_000548.5(TSC2):c.1945A>T (p.Met649Leu)
|
rs762331610
|
|
NM_000548.5(TSC2):c.1946+3A>C
|
rs1596342841
|
|
NM_000548.5(TSC2):c.1946+6C>A
|
rs754069880
|
|
NM_000548.5(TSC2):c.1946+6C>G
|
rs754069880
|
|
NM_000548.5(TSC2):c.1946+6_1946+7del
|
rs2088411660
|
|
NM_000548.5(TSC2):c.1947-10_1947-7del
|
rs1596343804
|
|
NM_000548.5(TSC2):c.1947-11_1947-10insA
|
|
|
NM_000548.5(TSC2):c.1947-7T>G
|
rs45450193
|
|
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile)
|
rs775845436
|
|
NM_000548.5(TSC2):c.1949A>C (p.Glu650Ala)
|
|
|
NM_000548.5(TSC2):c.194G>A (p.Cys65Tyr)
|
rs1299377997
|
|
NM_000548.5(TSC2):c.1954G>A (p.Glu652Lys)
|
rs1555505954
|
|
NM_000548.5(TSC2):c.1955A>G (p.Glu652Gly)
|
|
|
NM_000548.5(TSC2):c.1957A>G (p.Arg653Gly)
|
rs764225717
|
|
NM_000548.5(TSC2):c.1958G>A (p.Arg653Lys)
|
rs876658202
|
|
NM_000548.5(TSC2):c.1958G>C (p.Arg653Thr)
|
rs876658202
|
|
NM_000548.5(TSC2):c.1960G>A (p.Gly654Ser)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1960G>C (p.Gly654Arg)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1967A>C (p.Glu656Ala)
|
|
|
NM_000548.5(TSC2):c.1967A>G (p.Glu656Gly)
|
rs2088449468
|
|
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del)
|
rs137854104
|
|
NM_000548.5(TSC2):c.1969A>G (p.Lys657Glu)
|
rs45488199
|
|
NM_000548.5(TSC2):c.1971G>C (p.Lys657Asn)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1971G>T (p.Lys657Asn)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1972A>G (p.Lys658Glu)
|
rs1596344129
|
|
NM_000548.5(TSC2):c.1975A>C (p.Thr659Pro)
|
|
|
NM_000548.5(TSC2):c.1975A>G (p.Thr659Ala)
|
rs1398495219
|
|
NM_000548.5(TSC2):c.1975A>T (p.Thr659Ser)
|
|
|
NM_000548.5(TSC2):c.1976C>A (p.Thr659Asn)
|
rs755847664
|
|
NM_000548.5(TSC2):c.1976C>T (p.Thr659Ile)
|
|
|
NM_000548.5(TSC2):c.1978A>G (p.Ser660Gly)
|
|
|
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1979G>C (p.Ser660Thr)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1979G>T (p.Ser660Ile)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1980C>A (p.Ser660Arg)
|
rs959705365
|
|
NM_000548.5(TSC2):c.1980C>G (p.Ser660Arg)
|
|
|
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg)
|
rs137854168
|
|
NM_000548.5(TSC2):c.1981G>T (p.Gly661Cys)
|
|
|
NM_000548.5(TSC2):c.1982G>A (p.Gly661Asp)
|
rs1213719461
|
|
NM_000548.5(TSC2):c.1982G>T (p.Gly661Val)
|
|
|
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val)
|
rs137854103
|
|
NM_000548.5(TSC2):c.1984C>G (p.Pro662Ala)
|
rs1309151152
|
|
NM_000548.5(TSC2):c.1985C>A (p.Pro662His)
|
rs2088455520
|
|
NM_000548.5(TSC2):c.1985C>T (p.Pro662Leu)
|
rs2088455520
|
|
NM_000548.5(TSC2):c.1988T>C (p.Leu663Pro)
|
rs1555506026
|
|
NM_000548.5(TSC2):c.1988T>G (p.Leu663Arg)
|
rs1555506026
|
|
NM_000548.5(TSC2):c.198A>C (p.Glu66Asp)
|
|
|
NM_000548.5(TSC2):c.1990T>G (p.Ser664Ala)
|
rs1555506028
|
|
NM_000548.5(TSC2):c.1991C>A (p.Ser664Tyr)
|
rs991714565
|
|
NM_000548.5(TSC2):c.1992TCC[1] (p.Pro666del)
|
|
|
NM_000548.5(TSC2):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000548.5(TSC2):c.1996C>G (p.Pro666Ala)
|
|
|
NM_000548.5(TSC2):c.1996C>T (p.Pro666Ser)
|
rs2151305388
|
|
NM_000548.5(TSC2):c.199G>T (p.Val67Phe)
|
rs774506901
|
|
NM_000548.5(TSC2):c.1A>G (p.Met1Val)
|
rs1055443730
|
|
NM_000548.5(TSC2):c.2000C>G (p.Thr667Arg)
|
|
|
NM_000548.5(TSC2):c.2003G>A (p.Gly668Glu)
|
rs1406015247
|
|
NM_000548.5(TSC2):c.2005C>A (p.Pro669Thr)
|
|
|
NM_000548.5(TSC2):c.2006C>A (p.Pro669His)
|
|
|
NM_000548.5(TSC2):c.2006C>G (p.Pro669Arg)
|
|
|
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu)
|
rs794727221
|
|
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)
|
rs1338802781
|
|
NM_000548.5(TSC2):c.2014C>G (p.Pro672Ala)
|
rs1262368552
|
|
NM_000548.5(TSC2):c.2016_2030dup (p.Pro674_Ala678dup)
|
rs1430327271
|
|
NM_000548.5(TSC2):c.2017G>T (p.Ala673Ser)
|
|
|
NM_000548.5(TSC2):c.201_202delinsTC (p.Ala68Pro)
|
rs1567387058
|
|
NM_000548.5(TSC2):c.2021C>T (p.Pro674Leu)
|
|
|
NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr)
|
rs764840082
|
|
NM_000548.5(TSC2):c.2023G>C (p.Ala675Pro)
|
|
|
NM_000548.5(TSC2):c.2023_2024delinsTT (p.Ala675Leu)
|
rs1555506090
|
|
NM_000548.5(TSC2):c.2024C>T (p.Ala675Val)
|
|
|
NM_000548.5(TSC2):c.2029C>G (p.Pro677Ala)
|
rs1178654694
|
|
NM_000548.5(TSC2):c.2033C>A (p.Ala678Asp)
|
rs1567464805
|
|
NM_000548.5(TSC2):c.2033C>G (p.Ala678Gly)
|
rs1567464805
|
|
NM_000548.5(TSC2):c.2035G>C (p.Val679Leu)
|
rs746315218
|
|
NM_000548.5(TSC2):c.2035G>T (p.Val679Leu)
|
rs746315218
|
|
NM_000548.5(TSC2):c.2036T>C (p.Val679Ala)
|
|
|
NM_000548.5(TSC2):c.2038C>G (p.Arg680Gly)
|
rs876658578
|
|
NM_000548.5(TSC2):c.2039G>C (p.Arg680Pro)
|
rs756536921
|
|
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
|
|
|
NM_000548.5(TSC2):c.203C>T (p.Ala68Val)
|
|
|
NM_000548.5(TSC2):c.2042T>A (p.Leu681Gln)
|
rs878854079
|
|
NM_000548.5(TSC2):c.2044G>T (p.Gly682Trp)
|
rs1432565227
|
|
NM_000548.5(TSC2):c.2045G>A (p.Gly682Glu)
|
rs1567465004
|
|
NM_000548.5(TSC2):c.2048C>A (p.Ser683Tyr)
|
rs919334398
|
|
NM_000548.5(TSC2):c.2048C>G (p.Ser683Cys)
|
rs919334398
|
|
NM_000548.5(TSC2):c.2048C>T (p.Ser683Phe)
|
rs919334398
|
|
NM_000548.5(TSC2):c.2049C>A (p.Ser683=)
|
rs569518378
|
|
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu)
|
rs1555506150
|
|
NM_000548.5(TSC2):c.2050G>C (p.Val684Leu)
|
|
|
NM_000548.5(TSC2):c.2050G>T (p.Val684Leu)
|
rs779275341
|
|
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg)
|
rs959165669
|
|
NM_000548.5(TSC2):c.2056T>A (p.Tyr686Asn)
|
rs2151307522
|
|
NM_000548.5(TSC2):c.2057A>C (p.Tyr686Ser)
|
|
|
NM_000548.5(TSC2):c.2057A>G (p.Tyr686Cys)
|
|
|
NM_000548.5(TSC2):c.2057_2068dup (p.Tyr686_Leu689dup)
|
rs2151307509
|
|
NM_000548.5(TSC2):c.2060C>A (p.Ser687Tyr)
|
rs1455799897
|
|
NM_000548.5(TSC2):c.2060C>T (p.Ser687Phe)
|
rs1455799897
|
|
NM_000548.5(TSC2):c.2065C>G (p.Leu689Val)
|
rs1567465268
|
|
NM_000548.5(TSC2):c.2065C>T (p.Leu689Phe)
|
rs1567465268
|
|
NM_000548.5(TSC2):c.2066T>A (p.Leu689His)
|
rs2088480123
|
|
NM_000548.5(TSC2):c.2068T>G (p.Phe690Val)
|
|
|
NM_000548.5(TSC2):c.2070C>A (p.Phe690Leu)
|
rs558292668
|
|
NM_000548.5(TSC2):c.2070C>G (p.Phe690Leu)
|
rs558292668
|
|
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly)
|
rs760489473
|
|
NM_000548.5(TSC2):c.2074G>C (p.Val692Leu)
|
|
|
NM_000548.5(TSC2):c.2074G>T (p.Val692Phe)
|
rs201769220
|
|
NM_000548.5(TSC2):c.2074_2076dup (p.Val692_Leu693insVal)
|
|
|
NM_000548.5(TSC2):c.2075T>C (p.Val692Ala)
|
|
|
NM_000548.5(TSC2):c.2077C>G (p.Leu693Val)
|
rs1167258871
|
|
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg)
|
rs45483301
|
|
NM_000548.5(TSC2):c.208A>C (p.Thr70Pro)
|
|
|
NM_000548.5(TSC2):c.2090T>C (p.Leu697Ser)
|
rs2088487335
|
|
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe)
|
rs2151308956
|
|
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu)
|
rs796053510
|
|
NM_000548.5(TSC2):c.2094G>C (p.Lys698Asn)
|
rs752256613
|
|
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg)
|
rs1596345229
|
|
NM_000548.5(TSC2):c.2097+2dup
|
rs2088488578
|
|
NM_000548.5(TSC2):c.2097+4A>G
|
rs1567465686
|
|
NM_000548.5(TSC2):c.2097+5G>A
|
rs977777731
|
|
NM_000548.5(TSC2):c.2097+6T>A
|
|
|
NM_000548.5(TSC2):c.2097+6T>C
|
rs762550686
|
|
NM_000548.5(TSC2):c.2098-3C>G
|
|
|
NM_000548.5(TSC2):c.2098-3C>T
|
rs876660489
|
|
NM_000548.5(TSC2):c.209C>G (p.Thr70Ser)
|
rs1013995962
|
|
NM_000548.5(TSC2):c.209C>T (p.Thr70Ile)
|
|
|
NM_000548.5(TSC2):c.20A>C (p.Lys7Thr)
|
rs137854215
|
|
NM_000548.5(TSC2):c.2100G>T (p.Glu700Asp)
|
rs571792874
|
|
NM_000548.5(TSC2):c.2101T>G (p.Ser701Ala)
|
|
|
NM_000548.5(TSC2):c.2102C>G (p.Ser701Cys)
|
rs1044030046
|
|
NM_000548.5(TSC2):c.2102C>T (p.Ser701Phe)
|
rs1044030046
|
|
NM_000548.5(TSC2):c.2104G>T (p.Asp702Tyr)
|
|
|
NM_000548.5(TSC2):c.2105A>T (p.Asp702Val)
|
rs898836681
|
|
NM_000548.5(TSC2):c.2106C>A (p.Asp702Glu)
|
|
|
NM_000548.5(TSC2):c.2106C>G (p.Asp702Glu)
|
rs1396298404
|
|
NM_000548.5(TSC2):c.2106_2108dup (p.Asp702_Trp703insCys)
|
|
|
NM_000548.5(TSC2):c.2112G>C (p.Lys704Asn)
|
rs1555506423
|
|
NM_000548.5(TSC2):c.2112G>T (p.Lys704Asn)
|
rs1555506423
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2113G>C (p.Val705Leu)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2113G>T (p.Val705Leu)
|
|
|
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2119A>G (p.Lys707Glu)
|
rs1596347145
|
|
NM_000548.5(TSC2):c.2126T>C (p.Val709Ala)
|
rs1326276839
|
|
NM_000548.5(TSC2):c.2127_2129dup (p.Leu710dup)
|
rs2088566745
|
|
NM_000548.5(TSC2):c.2137C>G (p.Leu713Val)
|
|
|
NM_000548.5(TSC2):c.2138T>C (p.Leu713Pro)
|
rs1060500942
|
|
NM_000548.5(TSC2):c.213G>C (p.Lys71Asn)
|
|
|
NM_000548.5(TSC2):c.2140C>G (p.Pro714Ala)
|
rs1596347240
|
|
NM_000548.5(TSC2):c.2140C>T (p.Pro714Ser)
|
rs1596347240
|
|
NM_000548.5(TSC2):c.2143G>A (p.Glu715Lys)
|
rs1292305111
|
|
NM_000548.5(TSC2):c.2144A>G (p.Glu715Gly)
|
rs763351805
|
|
NM_000548.5(TSC2):c.2145G>T (p.Glu715Asp)
|
|
|
NM_000548.5(TSC2):c.214A>G (p.Lys72Glu)
|
rs2084967199
|
|
NM_000548.5(TSC2):c.2155T>A (p.Tyr719Asn)
|
rs2088573694
|
|
NM_000548.5(TSC2):c.2155T>C (p.Tyr719His)
|
rs2088573694
|
|
NM_000548.5(TSC2):c.2156A>C (p.Tyr719Ser)
|
|
|
NM_000548.5(TSC2):c.2156A>G (p.Tyr719Cys)
|
rs2088573975
|
|
NM_000548.5(TSC2):c.2158A>C (p.Lys720Gln)
|
rs1195091149
|
|
NM_000548.5(TSC2):c.2161G>C (p.Val721Leu)
|
|
|
NM_000548.5(TSC2):c.2162T>C (p.Val721Ala)
|
|
|
NM_000548.5(TSC2):c.2164C>G (p.Leu722Val)
|
|
|
NM_000548.5(TSC2):c.2164C>T (p.Leu722Phe)
|
rs1029969953
|
|
NM_000548.5(TSC2):c.2166C>A (p.Leu722=)
|
|
|
NM_000548.5(TSC2):c.2170T>C (p.Phe724Leu)
|
rs2088577923
|
|
NM_000548.5(TSC2):c.2170T>G (p.Phe724Val)
|
rs2088577923
|
|
NM_000548.5(TSC2):c.2174C>A (p.Thr725Asn)
|
rs1567467623
|
|
NM_000548.5(TSC2):c.2174C>T (p.Thr725Ile)
|
rs1567467623
|
|
NM_000548.5(TSC2):c.2177C>A (p.Ser726Tyr)
|
|
|
NM_000548.5(TSC2):c.2177C>T (p.Ser726Phe)
|
rs2088578578
|
|
NM_000548.5(TSC2):c.2179C>G (p.Pro727Ala)
|
|
|
NM_000548.5(TSC2):c.2179C>T (p.Pro727Ser)
|
rs2151318416
|
|
NM_000548.5(TSC2):c.217T>C (p.Phe73Leu)
|
rs1596245977
|
|
NM_000548.5(TSC2):c.217T>G (p.Phe73Val)
|
rs1596245977
|
|
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe)
|
rs397514908
|
|
NM_000548.5(TSC2):c.2185A>C (p.Ser729Arg)
|
rs2088581010
|
|
NM_000548.5(TSC2):c.2186G>A (p.Ser729Asn)
|
rs2088581254
|
|
NM_000548.5(TSC2):c.2188G>A (p.Val730Met)
|
rs1555506559
|
|
NM_000548.5(TSC2):c.2188G>T (p.Val730Leu)
|
rs1555506559
|
|
NM_000548.5(TSC2):c.2189T>C (p.Val730Ala)
|
|
|
NM_000548.5(TSC2):c.2191G>A (p.Asp731Asn)
|
rs777308285
|
|
NM_000548.5(TSC2):c.2192A>C (p.Asp731Ala)
|
rs2151318889
|
|
NM_000548.5(TSC2):c.2193C>G (p.Asp731Glu)
|
|
|
NM_000548.5(TSC2):c.2194C>A (p.Gln732Lys)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2196G>T (p.Gln732His)
|
rs765646245
|
|
NM_000548.5(TSC2):c.2197C>A (p.Leu733Met)
|
|
|
NM_000548.5(TSC2):c.2204C>G (p.Ser735Cys)
|
rs1596347589
|
|
NM_000548.5(TSC2):c.2204C>T (p.Ser735Phe)
|
rs1596347589
|
|
NM_000548.5(TSC2):c.2206G>A (p.Ala736Thr)
|
rs1252599854
|
|
NM_000548.5(TSC2):c.2209C>T (p.Leu737Phe)
|
rs1485034650
|
|
NM_000548.5(TSC2):c.2213G>A (p.Cys738Tyr)
|
rs2151319643
|
|
NM_000548.5(TSC2):c.2216C>G (p.Ser739Cys)
|
|
|
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
|
rs757345150
|
|
NM_000548.5(TSC2):c.2218A>T (p.Met740Leu)
|
rs757345150
|
|
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly)
|
rs2084968438
|
|
NM_000548.5(TSC2):c.2220+14C>T
|
|
|
NM_000548.5(TSC2):c.2220+4C>T
|
rs781186613
|
|
NM_000548.5(TSC2):c.2220+6A>C
|
|
|
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile)
|
rs2151319848
|
|
NM_000548.5(TSC2):c.2220G>C (p.Met740Ile)
|
|
|
NM_000548.5(TSC2):c.2221-12T>G
|
|
|
NM_000548.5(TSC2):c.2221-169C>T
|
|
|
NM_000548.5(TSC2):c.2221-3C>G
|
rs1555506834
|
|
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe)
|
rs886051789
|
|
NM_000548.5(TSC2):c.2222T>C (p.Leu741Pro)
|
rs2088681390
|
|
NM_000548.5(TSC2):c.2225C>T (p.Ser742Leu)
|
rs45517220
|
|
NM_000548.5(TSC2):c.2227G>A (p.Gly743Ser)
|
rs1555506852
|
|
NM_000548.5(TSC2):c.2228G>A (p.Gly743Asp)
|
|
|
NM_000548.5(TSC2):c.2230C>G (p.Pro744Ala)
|
rs1596350020
|
|
NM_000548.5(TSC2):c.2230C>T (p.Pro744Ser)
|
|
|
NM_000548.5(TSC2):c.2231C>G (p.Pro744Arg)
|
rs774759789
|
|
NM_000548.5(TSC2):c.2239C>A (p.Leu747Met)
|
rs45517221
|
|
NM_000548.5(TSC2):c.223G>C (p.Glu75Gln)
|
rs145470784
|
|
NM_000548.5(TSC2):c.2243A>G (p.Glu748Gly)
|
|
|
NM_000548.5(TSC2):c.2244G>T (p.Glu748Asp)
|
rs2151326551
|
|
NM_000548.5(TSC2):c.2247_2248delinsAT (p.Leu750Phe)
|
rs2088687656
|
|
NM_000548.5(TSC2):c.225+2T>C
|
rs397515105
|
|
NM_000548.5(TSC2):c.225+4G>C
|
|
|
NM_000548.5(TSC2):c.2252G>T (p.Arg751Leu)
|
rs749593050
|
|
NM_000548.5(TSC2):c.2254G>A (p.Gly752Ser)
|
rs2151326864
|
|
NM_000548.5(TSC2):c.2258C>T (p.Ala753Val)
|
|
|
NM_000548.5(TSC2):c.226-17C>G
|
|
|
NM_000548.5(TSC2):c.226-3C>T
|
|
|
NM_000548.5(TSC2):c.226-6T>A
|
|
|
NM_000548.5(TSC2):c.226-8G>A
|
rs2085356308
|
|
NM_000548.5(TSC2):c.2260C>G (p.Pro754Ala)
|
|
|
NM_000548.5(TSC2):c.2261C>G (p.Pro754Arg)
|
rs2088690950
|
|
NM_000548.5(TSC2):c.2263G>C (p.Glu755Gln)
|
rs2088691487
|
|
NM_000548.5(TSC2):c.2267G>C (p.Gly756Ala)
|
|
|
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro)
|
rs2151327279
|
|
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe)
|
rs45517223
|
|
NM_000548.5(TSC2):c.2276G>A (p.Arg759Lys)
|
|
|
NM_000548.5(TSC2):c.2276G>C (p.Arg759Thr)
|
|
|
NM_000548.5(TSC2):c.2279C>G (p.Thr760Ser)
|
|
|
NM_000548.5(TSC2):c.2279C>T (p.Thr760Ile)
|
rs1060500920
|
|
NM_000548.5(TSC2):c.2286G>C (p.Leu762Phe)
|
|
|
NM_000548.5(TSC2):c.2287C>A (p.His763Asn)
|
|
|
NM_000548.5(TSC2):c.2289C>G (p.His763Gln)
|
rs1319959937
|
|
NM_000548.5(TSC2):c.2290C>G (p.Leu764Val)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2293G>T (p.Ala765Ser)
|
|
|
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)
|
rs777459404
|
|
NM_000548.5(TSC2):c.22G>A (p.Asp8Asn)
|
rs1596233815
|
|
NM_000548.5(TSC2):c.2303C>T (p.Pro768Leu)
|
rs1555506977
|
|
NM_000548.5(TSC2):c.2308C>A (p.Leu770Met)
|
rs762215859
|
|
NM_000548.5(TSC2):c.2311A>T (p.Thr771Ser)
|
rs1555506986
|
|
NM_000548.5(TSC2):c.2312C>G (p.Thr771Arg)
|
rs886051790
|
|
NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu)
|
rs397514984
|
|
NM_000548.5(TSC2):c.2319A>C (p.Leu773Phe)
|
rs1359991984
|
|
NM_000548.5(TSC2):c.2324C>G (p.Ser775Cys)
|
rs2088701360
|
|
NM_000548.5(TSC2):c.2324C>T (p.Ser775Phe)
|
rs2088701360
|
|
NM_000548.5(TSC2):c.2326T>A (p.Tyr776Asn)
|
|
|
NM_000548.5(TSC2):c.2326T>C (p.Tyr776His)
|
|
|
NM_000548.5(TSC2):c.2329C>T (p.His777Tyr)
|
rs1349953143
|
|
NM_000548.5(TSC2):c.2330A>C (p.His777Pro)
|
|
|
NM_000548.5(TSC2):c.2331T>A (p.His777Gln)
|
|
|
NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp)
|
rs1060500946
|
|
NM_000548.5(TSC2):c.2336A>G (p.Tyr779Cys)
|
rs752656474
|
|
NM_000548.5(TSC2):c.2336A>T (p.Tyr779Phe)
|
rs752656474
|
|
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)
|
rs2151328709
|
|
NM_000548.5(TSC2):c.2339T>G (p.Leu780Arg)
|
rs2151328709
|
|
NM_000548.5(TSC2):c.233T>A (p.Val78Glu)
|
|
|
NM_000548.5(TSC2):c.2341G>C (p.Asp781His)
|
|
|
NM_000548.5(TSC2):c.2342A>G (p.Asp781Gly)
|
rs2088705306
|
|
NM_000548.5(TSC2):c.2343C>G (p.Asp781Glu)
|
rs1446097378
|
|
NM_000548.5(TSC2):c.2344A>G (p.Lys782Glu)
|
|
|
NM_000548.5(TSC2):c.2345A>G (p.Lys782Arg)
|
rs2151328864
|
|
NM_000548.5(TSC2):c.2346A>T (p.Lys782Asn)
|
|
|
NM_000548.5(TSC2):c.2351A>C (p.Lys784Thr)
|
rs1489548085
|
|
NM_000548.5(TSC2):c.2355+3A>C
|
rs2151329166
|
|
NM_000548.5(TSC2):c.2355+3A>G
|
|
|
NM_000548.5(TSC2):c.2355+3dup
|
|
|
NM_000548.5(TSC2):c.2355+4G>A
|
|
|
NM_000548.5(TSC2):c.2355+5del
|
rs2151329225
|
|
NM_000548.5(TSC2):c.2355+6A>G
|
|
|
NM_000548.5(TSC2):c.2355+6_2355+8del
|
rs1195113840
|
|
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)
|
rs2088708544
|
|
NM_000548.5(TSC2):c.2356-12T>G
|
|
|
NM_000548.5(TSC2):c.2356-2_2373dup
|
|
|
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
|
|
|
NM_000548.5(TSC2):c.2356C>A (p.Arg786Ser)
|
rs767252128
|
|
NM_000548.5(TSC2):c.2357G>T (p.Arg786Leu)
|
rs796053511
|
|
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys)
|
rs45517231
|
|
NM_000548.5(TSC2):c.235G>A (p.Glu79Lys)
|
rs2151026169
|
|
NM_000548.5(TSC2):c.2360A>C (p.Glu787Ala)
|
|
|
NM_000548.5(TSC2):c.2363T>C (p.Met788Thr)
|
|
|
NM_000548.5(TSC2):c.2368_2369delinsGT (p.Tyr790Val)
|
|
|
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys)
|
rs1555507478
|
|
NM_000548.5(TSC2):c.236A>C (p.Glu79Ala)
|
|
|
NM_000548.5(TSC2):c.236A>T (p.Glu79Val)
|
rs2085359439
|
|
NM_000548.5(TSC2):c.2372G>A (p.Cys791Tyr)
|
|
|
NM_000548.5(TSC2):c.2372G>C (p.Cys791Ser)
|
rs758961134
|
|
NM_000548.5(TSC2):c.2376G>A (p.Leu792=)
|
rs1596356233
|
|
NM_000548.5(TSC2):c.2377G>C (p.Glu793Gln)
|
|
|
NM_000548.5(TSC2):c.237A>T (p.Glu79Asp)
|
rs1567394781
|
|
NM_000548.5(TSC2):c.2381A>G (p.Gln794Arg)
|
rs2151347628
|
|
NM_000548.5(TSC2):c.2384G>A (p.Gly795Asp)
|
rs1555507503
|
|
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val)
|
rs1596356291
|
|
NM_000548.5(TSC2):c.2387T>G (p.Leu796Arg)
|
|
|
NM_000548.5(TSC2):c.2389A>C (p.Ile797Leu)
|
|
|
NM_000548.5(TSC2):c.2389A>T (p.Ile797Phe)
|
rs1240217406
|
|
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr)
|
rs2085359793
|
|
NM_000548.5(TSC2):c.2390T>A (p.Ile797Asn)
|
|
|
NM_000548.5(TSC2):c.2390T>C (p.Ile797Thr)
|
rs2088916279
|
|
NM_000548.5(TSC2):c.2396G>A (p.Arg799His)
|
rs1567474646
|
|
NM_000548.5(TSC2):c.2399G>A (p.Cys800Tyr)
|
rs746044783
|
|
NM_000548.5(TSC2):c.239C>T (p.Ala80Val)
|
rs142580483
|
|
NM_000548.5(TSC2):c.2401G>A (p.Ala801Thr)
|
|
|
NM_000548.5(TSC2):c.2405G>A (p.Ser802Asn)
|
rs1015629239
|
|
NM_000548.5(TSC2):c.2405G>C (p.Ser802Thr)
|
rs1015629239
|
|
NM_000548.5(TSC2):c.2408A>G (p.Gln803Arg)
|
|
|
NM_000548.5(TSC2):c.2409G>C (p.Gln803His)
|
rs1400548727
|
|
NM_000548.5(TSC2):c.2409G>T (p.Gln803His)
|
rs1400548727
|
|
NM_000548.5(TSC2):c.2416G>T (p.Val806Leu)
|
|
|
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup)
|
rs1298756950
|
|
NM_000548.5(TSC2):c.241C>T (p.Leu81Phe)
|
|
|
NM_000548.5(TSC2):c.2420C>T (p.Ala807Val)
|
|
|
NM_000548.5(TSC2):c.2426C>A (p.Ser809Tyr)
|
rs2151350205
|
|
NM_000548.5(TSC2):c.242T>C (p.Leu81Pro)
|
|
|
NM_000548.5(TSC2):c.2431T>G (p.Cys811Gly)
|
|
|
NM_000548.5(TSC2):c.2434A>G (p.Ser812Gly)
|
|
|
NM_000548.5(TSC2):c.2437G>T (p.Val813Leu)
|
rs375030314
|
|
NM_000548.5(TSC2):c.2439G>A (p.Val813=)
|
rs2151351167
|
|
NM_000548.5(TSC2):c.2440G>C (p.Glu814Gln)
|
|
|
NM_000548.5(TSC2):c.2441A>C (p.Glu814Ala)
|
|
|
NM_000548.5(TSC2):c.2443A>G (p.Met815Val)
|
|
|
NM_000548.5(TSC2):c.2443A>T (p.Met815Leu)
|
|
|
NM_000548.5(TSC2):c.2444T>A (p.Met815Lys)
|
|
|
NM_000548.5(TSC2):c.2446C>A (p.Pro816Thr)
|
rs760265207
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.2449G>A (p.Asp817Asn)
|
|
|
NM_000548.5(TSC2):c.244T>C (p.Trp82Arg)
|
rs878854083
|
|
NM_000548.5(TSC2):c.2450A>C (p.Asp817Ala)
|
|
|
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
|
rs1596356585
|
|
NM_000548.5(TSC2):c.2453T>A (p.Ile818Asn)
|
rs2151352015
|
|
NM_000548.5(TSC2):c.2453T>C (p.Ile818Thr)
|
rs2151352015
|
|
NM_000548.5(TSC2):c.2453TCA[4] (p.Ile820_Lys821insIle)
|
|
|
NM_000548.5(TSC2):c.2454C>G (p.Ile818Met)
|
|
|
NM_000548.5(TSC2):c.2455A>G (p.Ile819Val)
|
rs1426302691
|
|
NM_000548.5(TSC2):c.2458A>G (p.Ile820Val)
|
rs754451657
|
|
NM_000548.5(TSC2):c.2464G>A (p.Ala822Thr)
|
rs2151352584
|
|
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser)
|
rs1596356675
|
|
NM_000548.5(TSC2):c.2471C>T (p.Pro824Leu)
|
|
|
NM_000548.5(TSC2):c.2473G>T (p.Val825Phe)
|
rs149860212
|
|
NM_000548.5(TSC2):c.2476C>G (p.Leu826Val)
|
rs45517238
|
|
NM_000548.5(TSC2):c.2479GTG[1] (p.Val828del)
|
rs1596356726
|
|
NM_000548.5(TSC2):c.247A>G (p.Lys83Glu)
|
|
|
NM_000548.5(TSC2):c.2481G>A (p.Val827=)
|
rs1046589212
|
|
NM_000548.5(TSC2):c.2482G>A (p.Val828Met)
|
rs150178524
|
|
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr)
|
rs1555507617
|
|
NM_000548.5(TSC2):c.2488C>T (p.Leu830Phe)
|
rs1596356808
|
|
NM_000548.5(TSC2):c.2491A>C (p.Thr831Pro)
|
|
|
NM_000548.5(TSC2):c.2492C>A (p.Thr831Lys)
|
rs774380711
|
|
NM_000548.5(TSC2):c.2494C>T (p.His832Tyr)
|
rs2088939242
|
|
NM_000548.5(TSC2):c.2495A>T (p.His832Leu)
|
|
|
NM_000548.5(TSC2):c.2497A>G (p.Ile833Val)
|
rs2151354485
|
|
NM_000548.5(TSC2):c.2497A>T (p.Ile833Phe)
|
|
|
NM_000548.5(TSC2):c.2499C>G (p.Ile833Met)
|
|
|
NM_000548.5(TSC2):c.2500T>A (p.Ser834Thr)
|
|
|
NM_000548.5(TSC2):c.2503G>T (p.Ala835Ser)
|
rs2151354761
|
|
NM_000548.5(TSC2):c.250G>A (p.Ala84Thr)
|
|
|
NM_000548.5(TSC2):c.2510C>T (p.Ala837Val)
|
rs139919040
|
|
NM_000548.5(TSC2):c.2515A>C (p.Met839Leu)
|
rs876660457
|
|
NM_000548.5(TSC2):c.2518G>A (p.Ala840Thr)
|
rs2151355372
|
|
NM_000548.5(TSC2):c.251C>A (p.Ala84Glu)
|
rs35660529
|
|
NM_000548.5(TSC2):c.2524C>T (p.Pro842Ser)
|
|
|
NM_000548.5(TSC2):c.2525C>G (p.Pro842Arg)
|
|
|
NM_000548.5(TSC2):c.2525C>T (p.Pro842Leu)
|
rs2151355682
|
|
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro)
|
rs1057522911
|
|
NM_000548.5(TSC2):c.2530C>G (p.Leu844Val)
|
rs1596357053
|
|
NM_000548.5(TSC2):c.2531T>A (p.Leu844Gln)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2542T>A (p.Ser848Thr)
|
|
|
NM_000548.5(TSC2):c.2542T>C (p.Ser848Pro)
|
|
|
NM_000548.5(TSC2):c.2543C>G (p.Ser848Cys)
|
rs1060500922
|
|
NM_000548.5(TSC2):c.2544C>A (p.Ser848=)
|
rs2151356741
|
|
NM_000548.5(TSC2):c.2545+6T>G
|
rs45517245
|
|
NM_000548.5(TSC2):c.2545A>T (p.Thr849Ser)
|
|
|
NM_000548.5(TSC2):c.2546-10A>T
|
|
|
NM_000548.5(TSC2):c.2546-11C>T
|
|
|
NM_000548.5(TSC2):c.2546-13T>G
|
|
|
NM_000548.5(TSC2):c.2546-17C>T
|
|
|
NM_000548.5(TSC2):c.2546-6C>A
|
rs372088609
|
|
NM_000548.5(TSC2):c.2546C>T (p.Thr849Ile)
|
|
|
NM_000548.5(TSC2):c.2548C>G (p.Leu850Val)
|
rs2089256658
|
|
NM_000548.5(TSC2):c.2552C>G (p.Ala851Gly)
|
|
|
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val)
|
rs1596364874
|
|
NM_000548.5(TSC2):c.2555G>A (p.Arg852Lys)
|
rs2151379894
|
|
NM_000548.5(TSC2):c.2556G>T (p.Arg852Ser)
|
rs1596364897
|
|
NM_000548.5(TSC2):c.2560C>G (p.Pro854Ala)
|
rs1060500959
|
|
NM_000548.5(TSC2):c.2560C>T (p.Pro854Ser)
|
rs1060500959
|
|
NM_000548.5(TSC2):c.2561C>G (p.Pro854Arg)
|
rs1180511535
|
|
NM_000548.5(TSC2):c.2563C>T (p.His855Tyr)
|
rs2089259816
|
|
NM_000548.5(TSC2):c.2566C>T (p.Leu856Phe)
|
rs1596364980
|
|
NM_000548.5(TSC2):c.2572A>G (p.Arg858Gly)
|
rs2089261730
|
|
NM_000548.5(TSC2):c.2574G>T (p.Arg858Ser)
|
rs1596365022
|
|
NM_000548.5(TSC2):c.2575A>T (p.Asn859Tyr)
|
rs2151380450
|
|
NM_000548.5(TSC2):c.2577C>G (p.Asn859Lys)
|
|
|
NM_000548.5(TSC2):c.2584G>T (p.Ala862Ser)
|
|
|
NM_000548.5(TSC2):c.2584_2585delinsTT (p.Ala862Leu)
|
|
|
NM_000548.5(TSC2):c.2585C>G (p.Ala862Gly)
|
rs45517249
|
|
NM_000548.5(TSC2):c.2589G>T (p.Glu863Asp)
|
|
|
NM_000548.5(TSC2):c.2590C>A (p.Gln864Lys)
|
rs45517250
|
|
NM_000548.5(TSC2):c.2591A>C (p.Gln864Pro)
|
rs2151380945
|
|
NM_000548.5(TSC2):c.2591A>G (p.Gln864Arg)
|
rs2151380945
|
|
NM_000548.5(TSC2):c.2591A>T (p.Gln864Leu)
|
|
|
NM_000548.5(TSC2):c.2596G>A (p.Ala866Thr)
|
rs1555508378
|
|
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser)
|
rs1555508378
|
|
NM_000548.5(TSC2):c.2599A>G (p.Ser867Gly)
|
rs1596365202
|
|
NM_000548.5(TSC2):c.2600G>T (p.Ser867Ile)
|
rs751702841
|
|
NM_000548.5(TSC2):c.2602G>A (p.Val868Met)
|
rs2089267679
|
|
NM_000548.5(TSC2):c.2603T>C (p.Val868Ala)
|
rs2089267892
|
|
NM_000548.5(TSC2):c.2606T>A (p.Phe869Tyr)
|
rs2151381329
|
|
NM_000548.5(TSC2):c.2606T>G (p.Phe869Cys)
|
rs2151381329
|
|
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu)
|
rs750336814
|
|
NM_000548.5(TSC2):c.2608G>A (p.Ala870Thr)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.2608G>T (p.Ala870Ser)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.2611A>G (p.Ile871Val)
|
|
|
NM_000548.5(TSC2):c.2612T>C (p.Ile871Thr)
|
rs2089269466
|
|
NM_000548.5(TSC2):c.2617C>G (p.Leu873Val)
|
rs1555508418
|
|
NM_000548.5(TSC2):c.2618_2620del (p.Leu873del)
|
rs2089271727
|
|
NM_000548.5(TSC2):c.261T>A (p.Asp87Glu)
|
rs1555496967
|
|
NM_000548.5(TSC2):c.2621C>G (p.Pro874Arg)
|
rs138527121
|
|
NM_000548.5(TSC2):c.2623T>C (p.Tyr875His)
|
|
|
NM_000548.5(TSC2):c.2629_2631del (p.Asn877del)
|
rs2089273762
|
|
NM_000548.5(TSC2):c.262C>G (p.Leu88Val)
|
|
|
NM_000548.5(TSC2):c.2630A>G (p.Asn877Ser)
|
rs1567482364
|
|
NM_000548.5(TSC2):c.2631C>G (p.Asn877Lys)
|
rs45517251
|
|
NM_000548.5(TSC2):c.2633C>A (p.Pro878His)
|
rs1060500925
|
|
NM_000548.5(TSC2):c.2633C>T (p.Pro878Leu)
|
|
|
NM_000548.5(TSC2):c.2635T>C (p.Ser879Pro)
|
rs2151382181
|
|
NM_000548.5(TSC2):c.2636C>T (p.Ser879Phe)
|
rs1555508444
|
|
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu)
|
rs2151382293
|
|
NM_000548.5(TSC2):c.2639+2dup
|
rs2089276740
|
|
NM_000548.5(TSC2):c.2639+5G>A
|
rs397515171
|
|
NM_000548.5(TSC2):c.2639+6T>C
|
rs2151382514
|
|
NM_000548.5(TSC2):c.2639A>C (p.Lys880Thr)
|
|
|
NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg)
|
rs2089276233
|
|
NM_000548.5(TSC2):c.2640-4_2640-3del
|
rs1555508570
|
|
NM_000548.5(TSC2):c.2646T>G (p.Asn882Lys)
|
rs2151386177
|
|
NM_000548.5(TSC2):c.2647C>G (p.Gln883Glu)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2653A>G (p.Ile885Val)
|
rs1555508581
|
|
NM_000548.5(TSC2):c.2655C>G (p.Ile885Met)
|
rs1060504116
|
|
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2656G>T (p.Val886Leu)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2661_2699del (p.Leu888_Cys900del)
|
rs1596366593
|
|
NM_000548.5(TSC2):c.2662C>A (p.Leu888Met)
|
|
|
NM_000548.5(TSC2):c.2662C>G (p.Leu888Val)
|
|
|
NM_000548.5(TSC2):c.2664G>T (p.Leu888=)
|
|
|
NM_000548.5(TSC2):c.2665G>A (p.Ala889Thr)
|
rs397515054
|
|
NM_000548.5(TSC2):c.2671C>T (p.His891Tyr)
|
rs2089316693
|
|
NM_000548.5(TSC2):c.2676C>A (p.Val892=)
|
|
|
NM_000548.5(TSC2):c.2677A>T (p.Ile893Leu)
|
rs2151387209
|
|
NM_000548.5(TSC2):c.2678T>A (p.Ile893Lys)
|
|
|
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr)
|
rs796053491
|
|
NM_000548.5(TSC2):c.2679A>G (p.Ile893Met)
|
|
|
NM_000548.5(TSC2):c.267G>T (p.Leu89Phe)
|
|
|
NM_000548.5(TSC2):c.2683A>G (p.Met895Val)
|
rs45470695
|
|
NM_000548.5(TSC2):c.2683A>T (p.Met895Leu)
|
rs45470695
|
|
NM_000548.5(TSC2):c.2686T>C (p.Trp896Arg)
|
rs1567483855
|
|
NM_000548.5(TSC2):c.2690T>A (p.Phe897Tyr)
|
rs45517255
|
|
NM_000548.5(TSC2):c.2695A>G (p.Arg899Gly)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2696G>A (p.Arg899Lys)
|
|
|
NM_000548.5(TSC2):c.2698T>C (p.Cys900Arg)
|
|
|
NM_000548.5(TSC2):c.269A>T (p.Gln90Leu)
|
|
|
NM_000548.5(TSC2):c.2707C>A (p.Pro903Thr)
|
rs2089324682
|
|
NM_000548.5(TSC2):c.2707C>T (p.Pro903Ser)
|
rs2089324682
|
|
NM_000548.5(TSC2):c.2708C>T (p.Pro903Leu)
|
|
|
NM_000548.5(TSC2):c.2710T>G (p.Phe904Val)
|
rs2151388349
|
|
NM_000548.5(TSC2):c.2711T>C (p.Phe904Ser)
|
rs2089325564
|
|
NM_000548.5(TSC2):c.2712C>A (p.Phe904Leu)
|
rs137920189
|
|
NM_000548.5(TSC2):c.2716A>G (p.Lys906Glu)
|
|
|
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr)
|
rs1555496979
|
|
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser)
|
rs1555496979
|
|
NM_000548.5(TSC2):c.2720A>G (p.Asp907Gly)
|
rs2151388705
|
|
NM_000548.5(TSC2):c.2721T>A (p.Asp907Glu)
|
rs2089328474
|
|
NM_000548.5(TSC2):c.2722T>C (p.Phe908Leu)
|
|
|
NM_000548.5(TSC2):c.2725G>A (p.Val909Ile)
|
|
|
NM_000548.5(TSC2):c.2728C>T (p.Pro910Ser)
|
rs1319146226
|
|
NM_000548.5(TSC2):c.2729C>G (p.Pro910Arg)
|
|
|
NM_000548.5(TSC2):c.2729C>T (p.Pro910Leu)
|
|
|
NM_000548.5(TSC2):c.2732T>C (p.Phe911Ser)
|
rs774758044
|
|
NM_000548.5(TSC2):c.2737A>C (p.Thr913Pro)
|
|
|
NM_000548.5(TSC2):c.2737A>T (p.Thr913Ser)
|
rs772378578
|
|
NM_000548.5(TSC2):c.2738C>G (p.Thr913Ser)
|
rs2151389251
|
|
NM_000548.5(TSC2):c.2738C>T (p.Thr913Ile)
|
|
|
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln)
|
rs1422374195
|
|
NM_000548.5(TSC2):c.2742+20A>G
|
rs1057521395
|
|
NM_000548.5(TSC2):c.2742+3G>C
|
rs373935836
|
|
NM_000548.5(TSC2):c.2742+3_2742+4insATGGCTGTG
|
|
|
NM_000548.5(TSC2):c.2742+5dup
|
|
|
NM_000548.5(TSC2):c.2742+6C>G
|
rs377568673
|
|
NM_000548.5(TSC2):c.2743-20G>A
|
rs2089393160
|
|
NM_000548.5(TSC2):c.2743G>A (p.Gly915Ser)
|
|
|
NM_000548.5(TSC2):c.2744G>T (p.Gly915Val)
|
|
|
NM_000548.5(TSC2):c.2746C>A (p.Leu916Met)
|
rs137854274
|
|
NM_000548.5(TSC2):c.2750G>C (p.Arg917Pro)
|
rs397515046
|
|
NM_000548.5(TSC2):c.2755A>G (p.Asn919Asp)
|
|
|
NM_000548.5(TSC2):c.2756A>T (p.Asn919Ile)
|
rs780057014
|
|
NM_000548.5(TSC2):c.2758G>A (p.Val920Ile)
|
rs2151394156
|
|
NM_000548.5(TSC2):c.2761C>T (p.Leu921Phe)
|
rs201835391
|
|
NM_000548.5(TSC2):c.2763_2765del (p.Leu922del)
|
rs2151394339
|
|
NM_000548.5(TSC2):c.2764T>G (p.Leu922Val)
|
rs2089404994
|
|
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe)
|
rs587778731
|
|
NM_000548.5(TSC2):c.276G>T (p.Glu92Asp)
|
|
|
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)
|
rs1555508942
|
|
NM_000548.5(TSC2):c.2775T>A (p.Asp925Glu)
|
|
|
NM_000548.5(TSC2):c.2776G>T (p.Asp926Tyr)
|
rs766039435
|
|
NM_000548.5(TSC2):c.2779A>C (p.Thr927Pro)
|
rs1420034406
|
|
NM_000548.5(TSC2):c.2780C>G (p.Thr927Ser)
|
|
|
NM_000548.5(TSC2):c.2782C>G (p.Pro928Ala)
|
|
|
NM_000548.5(TSC2):c.2783C>G (p.Pro928Arg)
|
rs2151394997
|
|
NM_000548.5(TSC2):c.2786A>G (p.Glu929Gly)
|
rs2151395129
|
|
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp)
|
rs968144525
|
|
NM_000548.5(TSC2):c.2792A>G (p.Asp931Gly)
|
rs2089411255
|
|
NM_000548.5(TSC2):c.2794A>G (p.Ser932Gly)
|
|
|
NM_000548.5(TSC2):c.2803G>T (p.Ala935Ser)
|
rs979456797
|
|
NM_000548.5(TSC2):c.2804C>A (p.Ala935Asp)
|
rs1555508975
|
|
NM_000548.5(TSC2):c.2804C>T (p.Ala935Val)
|
rs1555508975
|
|
NM_000548.5(TSC2):c.2806C>T (p.Arg936Trp)
|
rs2151395746
|
|
NM_000548.5(TSC2):c.2812A>C (p.Thr938Pro)
|
rs1567486660
|
|
NM_000548.5(TSC2):c.2813C>T (p.Thr938Ile)
|
|
|
NM_000548.5(TSC2):c.2817T>A (p.Ser939Arg)
|
rs2151396025
|
|
NM_000548.5(TSC2):c.2818C>G (p.Leu940Val)
|
|
|
NM_000548.5(TSC2):c.281C>G (p.Pro94Arg)
|
|
|
NM_000548.5(TSC2):c.2822A>C (p.Asn941Thr)
|
rs2089415203
|
|
NM_000548.5(TSC2):c.2822A>G (p.Asn941Ser)
|
|
|
NM_000548.5(TSC2):c.2823C>G (p.Asn941Lys)
|
|
|
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly)
|
rs2151396480
|
|
NM_000548.5(TSC2):c.2837+4C>G
|
rs544409858
|
|
NM_000548.5(TSC2):c.2837+5G>T
|
|
|
NM_000548.5(TSC2):c.2838-2A>C
|
|
|
NM_000548.5(TSC2):c.2838-2A>G
|
|
|
NM_000548.5(TSC2):c.2838-3T>G
|
rs553942147
|
|
NM_000548.5(TSC2):c.2838-5_2859del
|
|
|
NM_000548.5(TSC2):c.2838-6C>A
|
|
|
NM_000548.5(TSC2):c.2838T>C (p.Ser946=)
|
rs2089574542
|
|
NM_000548.5(TSC2):c.2840T>C (p.Leu947Pro)
|
rs1555509447
|
|
NM_000548.5(TSC2):c.2843G>T (p.Arg948Met)
|
rs1555509449
|
|
NM_000548.5(TSC2):c.2845A>G (p.Ile949Val)
|
|
|
NM_000548.5(TSC2):c.2846T>C (p.Ile949Thr)
|
rs2089576147
|
|
NM_000548.5(TSC2):c.2847A>G (p.Ile949Met)
|
rs1596374592
|
|
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro)
|
rs886051792
|
|
NM_000548.5(TSC2):c.284T>C (p.Leu95Pro)
|
rs2085369170
|
|
NM_000548.5(TSC2):c.284T>G (p.Leu95Arg)
|
rs2085369170
|
|
NM_000548.5(TSC2):c.2852G>A (p.Arg951Lys)
|
|
|
NM_000548.5(TSC2):c.2852G>C (p.Arg951Thr)
|
rs1216438701
|
|
NM_000548.5(TSC2):c.2852G>T (p.Arg951Ile)
|
rs1216438701
|
|
NM_000548.5(TSC2):c.2853A>C (p.Arg951Ser)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2854C>A (p.Pro952Thr)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2854C>G (p.Pro952Ala)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2855C>G (p.Pro952Arg)
|
rs2089578491
|
|
NM_000548.5(TSC2):c.2857C>G (p.Pro953Ala)
|
rs2151413577
|
|
NM_000548.5(TSC2):c.2857C>T (p.Pro953Ser)
|
rs2151413577
|
|
NM_000548.5(TSC2):c.2858C>G (p.Pro953Arg)
|
rs1303011979
|
|
NM_000548.5(TSC2):c.2858C>T (p.Pro953Leu)
|
rs1303011979
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.2863C>G (p.Gln955Glu)
|
rs1596374761
|
|
NM_000548.5(TSC2):c.2863C>T (p.Gln955Ter)
|
rs1596374761
|
|
NM_000548.5(TSC2):c.2866G>A (p.Gly956Ser)
|
rs769199118
|
|
NM_000548.5(TSC2):c.2867G>A (p.Gly956Asp)
|
rs2151413781
|
|
NM_000548.5(TSC2):c.2867G>T (p.Gly956Val)
|
rs2151413781
|
|
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer)
|
rs1057518322
|
|
NM_000548.5(TSC2):c.286G>A (p.Glu96Lys)
|
rs2151027724
|
|
NM_000548.5(TSC2):c.2870T>C (p.Leu957Ser)
|
|
|
NM_000548.5(TSC2):c.2870dup (p.Leu957fs)
|
rs1567490680
|
|
NM_000548.5(TSC2):c.2871G>C (p.Leu957Phe)
|
rs772755332
|
|
NM_000548.5(TSC2):c.2872A>G (p.Asn958Asp)
|
rs1567490706
|
|
NM_000548.5(TSC2):c.2878T>G (p.Ser960Ala)
|
rs1005027685
|
|
NM_000548.5(TSC2):c.287A>G (p.Glu96Gly)
|
rs2085369532
|
|
NM_000548.5(TSC2):c.2880T>G (p.Ser960=)
|
|
|
NM_000548.5(TSC2):c.2880_2881del (p.Pro961fs)
|
rs2089583790
|
|
NM_000548.5(TSC2):c.2881C>A (p.Pro961Thr)
|
rs2089584361
|
|
NM_000548.5(TSC2):c.2881C>G (p.Pro961Ala)
|
|
|
NM_000548.5(TSC2):c.2881C>T (p.Pro961Ser)
|
rs2089584361
|
|
NM_000548.5(TSC2):c.2890A>G (p.Lys964Glu)
|
rs1596375009
|
|
NM_000548.5(TSC2):c.2892A>T (p.Lys964Asn)
|
|
|
NM_000548.5(TSC2):c.2895A>C (p.Glu965Asp)
|
|
|
NM_000548.5(TSC2):c.2897T>C (p.Phe966Ser)
|
rs2151414797
|
|
NM_000548.5(TSC2):c.2898C>G (p.Phe966Leu)
|
rs2151414830
|
|
NM_000548.5(TSC2):c.2899A>G (p.Lys967Glu)
|
|
|
NM_000548.5(TSC2):c.289G>A (p.Ala97Thr)
|
rs1446873736
|
|
NM_000548.5(TSC2):c.289G>C (p.Ala97Pro)
|
rs1446873736
|
|
NM_000548.5(TSC2):c.28G>C (p.Gly10Arg)
|
|
|
NM_000548.5(TSC2):c.2900A>T (p.Lys967Met)
|
rs2089588117
|
|
NM_000548.5(TSC2):c.2902G>T (p.Glu968Ter)
|
|
|
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del)
|
rs1460562160
|
|
NM_000548.5(TSC2):c.2909C>G (p.Ser970Cys)
|
rs758447107
|
|
NM_000548.5(TSC2):c.2909C>T (p.Ser970Phe)
|
rs758447107
|
|
NM_000548.5(TSC2):c.290C>A (p.Ala97Asp)
|
|
|
NM_000548.5(TSC2):c.2912C>T (p.Ala971Val)
|
rs1596375143
|
|
NM_000548.5(TSC2):c.2914G>A (p.Ala972Thr)
|
rs1567490981
|
|
NM_000548.5(TSC2):c.2915C>T (p.Ala972Val)
|
rs2089590552
|
|
NM_000548.5(TSC2):c.2917G>C (p.Glu973Gln)
|
rs780981335
|
|
NM_000548.5(TSC2):c.2917G>T (p.Glu973Ter)
|
rs780981335
|
|
NM_000548.5(TSC2):c.2920G>A (p.Ala974Thr)
|
rs556778889
|
|
NM_000548.5(TSC2):c.2924T>C (p.Phe975Ser)
|
rs2151415659
|
|
NM_000548.5(TSC2):c.292C>G (p.Arg98Gly)
|
|
|
NM_000548.5(TSC2):c.2930G>A (p.Cys977Tyr)
|
rs2089593473
|
|
NM_000548.5(TSC2):c.2931C>A (p.Cys977Ter)
|
rs2089593888
|
|
NM_000548.5(TSC2):c.2932C>G (p.Arg978Gly)
|
rs768241596
|
|
NM_000548.5(TSC2):c.2932_2934dup (p.Arg978dup)
|
rs2089593679
|
|
NM_000548.5(TSC2):c.2933G>A (p.Arg978His)
|
rs876660733
|
|
NM_000548.5(TSC2):c.2935A>G (p.Ser979Gly)
|
|
|
NM_000548.5(TSC2):c.2936G>C (p.Ser979Thr)
|
rs2151416062
|
|
NM_000548.5(TSC2):c.2938A>G (p.Ile980Val)
|
|
|
NM_000548.5(TSC2):c.293G>C (p.Arg98Pro)
|
rs1478204355
|
|
NM_000548.5(TSC2):c.2942G>A (p.Ser981Asn)
|
|
|
NM_000548.5(TSC2):c.2942G>C (p.Ser981Thr)
|
rs1596375336
|
|
NM_000548.5(TSC2):c.2943T>G (p.Ser981Arg)
|
rs1596375342
|
|
NM_000548.5(TSC2):c.2944G>A (p.Val982Met)
|
|
|
NM_000548.5(TSC2):c.2946_2947del (p.Val982_Ser983insTer)
|
|
|
NM_000548.5(TSC2):c.2950G>A (p.Glu984Lys)
|
|
|
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln)
|
rs397515156
|
|
NM_000548.5(TSC2):c.2957dup (p.Val987fs)
|
rs2089598055
|
|
NM_000548.5(TSC2):c.2959G>A (p.Val987Ile)
|
rs2089598568
|
|
NM_000548.5(TSC2):c.2960T>G (p.Val987Gly)
|
rs1391148381
|
|
NM_000548.5(TSC2):c.2961_2966+3del
|
|
|
NM_000548.5(TSC2):c.2964C>T (p.Arg988=)
|
rs757274577
|
|
NM_000548.5(TSC2):c.2965A>G (p.Ser989Gly)
|
rs1567491278
|
|
NM_000548.5(TSC2):c.2966+1G>A
|
rs2089600815
|
|
NM_000548.5(TSC2):c.2966+1G>C
|
rs2089600815
|
|
NM_000548.5(TSC2):c.2966+3A>C
|
rs1332708335
|
|
NM_000548.5(TSC2):c.2966+4G>C
|
rs1235253082
|
|
NM_000548.5(TSC2):c.2966G>C (p.Ser989Thr)
|
rs1555509538
|
|
NM_000548.5(TSC2):c.2967-1G>A
|
|
|
NM_000548.5(TSC2):c.2967-1G>T
|
rs1596382055
|
|
NM_000548.5(TSC2):c.2968A>T (p.Arg990Trp)
|
rs753730009
|
|
NM_000548.5(TSC2):c.2973A>G (p.Ile991Met)
|
|
|
NM_000548.5(TSC2):c.2975A>G (p.Gln992Arg)
|
|
|
NM_000548.5(TSC2):c.2977_2979del (p.Thr993del)
|
rs2151430223
|
|
NM_000548.5(TSC2):c.2981C>A (p.Ser994Tyr)
|
rs2151430416
|
|
NM_000548.5(TSC2):c.2981C>T (p.Ser994Phe)
|
rs2151430416
|
|
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)
|
rs752248140
|
|
NM_000548.5(TSC2):c.2983C>T (p.Leu995Phe)
|
|
|
NM_000548.5(TSC2):c.2987C>A (p.Thr996Asn)
|
|
|
NM_000548.5(TSC2):c.2987C>T (p.Thr996Ile)
|
rs1596382185
|
|
NM_000548.5(TSC2):c.2989A>C (p.Ser997Arg)
|
|
|
NM_000548.5(TSC2):c.2989A>G (p.Ser997Gly)
|
rs1555510209
|
|
NM_000548.5(TSC2):c.2990G>A (p.Ser997Asn)
|
rs1596382214
|
|
NM_000548.5(TSC2):c.2990G>T (p.Ser997Ile)
|
rs1596382214
|
|
NM_000548.5(TSC2):c.2992G>A (p.Ala998Thr)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2992G>C (p.Ala998Pro)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2993C>T (p.Ala998Val)
|
rs2089790275
|
|
NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr)
|
rs149808366
|
|
NM_000548.5(TSC2):c.2996G>T (p.Ser999Ile)
|
rs149808366
|
|
NM_000548.5(TSC2):c.2998T>A (p.Leu1000Met)
|
|
|
NM_000548.5(TSC2):c.29G>T (p.Gly10Val)
|
rs2084671697
|
|
NM_000548.5(TSC2):c.2T>A (p.Met1Lys)
|
rs2084667702
|
|
NM_000548.5(TSC2):c.2T>C (p.Met1Thr)
|
rs2084667702
|
|
NM_000548.5(TSC2):c.3005C>A (p.Ser1002Tyr)
|
rs748261129
|
|
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.3007G>T (p.Ala1003Ser)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.3011A>C (p.Asp1004Ala)
|
rs2151431476
|
|
NM_000548.5(TSC2):c.3012T>G (p.Asp1004Glu)
|
rs772328985
|
|
NM_000548.5(TSC2):c.3017A>C (p.Asn1006Thr)
|
rs2151431671
|
|
NM_000548.5(TSC2):c.301G>T (p.Val101Leu)
|
rs878854089
|
|
NM_000548.5(TSC2):c.3023T>A (p.Val1008Glu)
|
rs2151431875
|
|
NM_000548.5(TSC2):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_000548.5(TSC2):c.3026C>T (p.Ala1009Val)
|
rs1567496227
|
|
NM_000548.5(TSC2):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_000548.5(TSC2):c.302T>C (p.Val101Ala)
|
rs2085372909
|
|
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3036C>G (p.Asp1012Glu)
|
rs144997264
|
|
NM_000548.5(TSC2):c.3037G>C (p.Asp1013His)
|
rs45517279
|
|
NM_000548.5(TSC2):c.3049A>G (p.Asn1017Asp)
|
|
|
NM_000548.5(TSC2):c.3050A>G (p.Asn1017Ser)
|
rs2151432652
|
|
NM_000548.5(TSC2):c.3052C>A (p.Leu1018Ile)
|
rs1034696882
|
|
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe)
|
rs1034696882
|
|
NM_000548.5(TSC2):c.3053T>C (p.Leu1018Pro)
|
rs2151432741
|
|
NM_000548.5(TSC2):c.3055C>T (p.His1019Tyr)
|
rs2089797662
|
|
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro)
|
rs1555510317
|
|
NM_000548.5(TSC2):c.3056A>G (p.His1019Arg)
|
rs1555510317
|
|
NM_000548.5(TSC2):c.3056A>T (p.His1019Leu)
|
|
|
NM_000548.5(TSC2):c.3059T>C (p.Leu1020Pro)
|
rs2089798643
|
|
NM_000548.5(TSC2):c.3064C>G (p.Leu1022Val)
|
|
|
NM_000548.5(TSC2):c.3067A>G (p.Thr1023Ala)
|
rs2089798819
|
|
NM_000548.5(TSC2):c.3068C>T (p.Thr1023Met)
|
rs1555510327
|
|
NM_000548.5(TSC2):c.3070G>A (p.Glu1024Lys)
|
rs1060500960
|
|
NM_000548.5(TSC2):c.307G>A (p.Ala103Thr)
|
rs2151028402
|
|
NM_000548.5(TSC2):c.307G>T (p.Ala103Ser)
|
|
|
NM_000548.5(TSC2):c.3085A>G (p.Met1029Val)
|
|
|
NM_000548.5(TSC2):c.3089T>C (p.Met1030Thr)
|
rs1567496821
|
|
NM_000548.5(TSC2):c.308C>G (p.Ala103Gly)
|
rs1555497043
|
|
NM_000548.5(TSC2):c.308C>T (p.Ala103Val)
|
rs1555497043
|
|
NM_000548.5(TSC2):c.3090G>C (p.Met1030Ile)
|
rs2151433890
|
|
NM_000548.5(TSC2):c.3091G>C (p.Ala1031Pro)
|
|
|
NM_000548.5(TSC2):c.3091G>T (p.Ala1031Ser)
|
rs2151433921
|
|
NM_000548.5(TSC2):c.3092C>T (p.Ala1031Val)
|
rs2151433942
|
|
NM_000548.5(TSC2):c.3094C>G (p.Arg1032Gly)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3097T>C (p.Tyr1033His)
|
rs137854404
|
|
NM_000548.5(TSC2):c.30C>T (p.Gly10=)
|
rs876659726
|
|
NM_000548.5(TSC2):c.3100G>T (p.Val1034Phe)
|
rs146745242
|
|
NM_000548.5(TSC2):c.3101T>C (p.Val1034Ala)
|
|
|
NM_000548.5(TSC2):c.3103T>G (p.Phe1035Val)
|
rs2151434349
|
|
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro)
|
rs45517281
|
|
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala)
|
rs45517281
|
|
NM_000548.5(TSC2):c.310C>G (p.Leu104Val)
|
rs1596259554
|
|
NM_000548.5(TSC2):c.3110A>C (p.Asn1037Thr)
|
rs2089806008
|
|
NM_000548.5(TSC2):c.3110A>G (p.Asn1037Ser)
|
|
|
NM_000548.5(TSC2):c.3115A>G (p.Thr1039Ala)
|
rs2151434691
|
|
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met)
|
rs1596382895
|
|
NM_000548.5(TSC2):c.3118G>T (p.Ala1040Ser)
|
|
|
NM_000548.5(TSC2):c.3118_3126del (p.Ala1040_Pro1042del)
|
|
|
NM_000548.5(TSC2):c.3122T>C (p.Val1041Ala)
|
|
|
NM_000548.5(TSC2):c.3125C>G (p.Pro1042Arg)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3130A>G (p.Arg1044Gly)
|
|
|
NM_000548.5(TSC2):c.3131+19G>A
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|
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NM_000548.5(TSC2):c.3131+3C>G
|
|
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NM_000548.5(TSC2):c.3131+4C>G
|
rs559015964
|
|
NM_000548.5(TSC2):c.3131+5A>C
|
rs1843069967
|
|
NM_000548.5(TSC2):c.3132-11_3132-10del
|
|
|
NM_000548.5(TSC2):c.3132-4C>G
|
|
|
NM_000548.5(TSC2):c.3132G>A (p.Arg1044=)
|
|
|
NM_000548.5(TSC2):c.3133T>A (p.Ser1045Thr)
|
rs1596383557
|
|
NM_000548.5(TSC2):c.3134C>G (p.Ser1045Cys)
|
rs1567497647
|
|
NM_000548.5(TSC2):c.3136C>T (p.Pro1046Ser)
|
rs774008119
|
|
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu)
|
rs1567497682
|
|
NM_000548.5(TSC2):c.3141G>A (p.Val1047=)
|
rs1596383623
|
|
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)
|
rs772640324
|
|
NM_000548.5(TSC2):c.3145G>C (p.Glu1049Gln)
|
rs796053492
|
|
NM_000548.5(TSC2):c.3155T>C (p.Leu1052Pro)
|
rs878854091
|
|
NM_000548.5(TSC2):c.3157G>A (p.Ala1053Thr)
|
rs2151437502
|
|
NM_000548.5(TSC2):c.3160G>A (p.Gly1054Ser)
|
|
|
NM_000548.5(TSC2):c.3161G>A (p.Gly1054Asp)
|
|
|
NM_000548.5(TSC2):c.3161G>T (p.Gly1054Val)
|
|
|
NM_000548.5(TSC2):c.3166A>G (p.Arg1056Gly)
|
rs2151437774
|
|
NM_000548.5(TSC2):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_000548.5(TSC2):c.3179G>C (p.Trp1060Ser)
|
rs2089827541
|
|
NM_000548.5(TSC2):c.317A>C (p.Lys106Thr)
|
rs1567395686
|
|
NM_000548.5(TSC2):c.317A>G (p.Lys106Arg)
|
rs1567395686
|
|
NM_000548.5(TSC2):c.3181C>A (p.Leu1061Met)
|
|
|
NM_000548.5(TSC2):c.3181C>G (p.Leu1061Val)
|
rs946673791
|
|
NM_000548.5(TSC2):c.3182T>G (p.Leu1061Arg)
|
rs397514919
|
|
NM_000548.5(TSC2):c.3184G>T (p.Val1062Phe)
|
|
|
NM_000548.5(TSC2):c.3185T>C (p.Val1062Ala)
|
|
|
NM_000548.5(TSC2):c.3188G>A (p.Gly1063Glu)
|
rs2089828784
|
|
NM_000548.5(TSC2):c.3190A>G (p.Asn1064Asp)
|
rs2151438419
|
|
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys)
|
rs201670791
|
|
NM_000548.5(TSC2):c.3193A>G (p.Lys1065Glu)
|
rs751955670
|
|
NM_000548.5(TSC2):c.3196C>G (p.Leu1066Val)
|
rs886051793
|
|
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro)
|
rs397515207
|
|
NM_000548.5(TSC2):c.3202A>G (p.Thr1068Ala)
|
|
|
NM_000548.5(TSC2):c.3203C>A (p.Thr1068Asn)
|
rs397515284
|
|
NM_000548.5(TSC2):c.3205G>A (p.Val1069Met)
|
rs2151438862
|
|
NM_000548.5(TSC2):c.3205G>C (p.Val1069Leu)
|
rs2151438862
|
|
NM_000548.5(TSC2):c.320C>A (p.Ala107Asp)
|
rs2085374926
|
|
NM_000548.5(TSC2):c.320C>T (p.Ala107Val)
|
rs2085374926
|
|
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3214A>G (p.Ser1072Gly)
|
|
|
NM_000548.5(TSC2):c.3221G>T (p.Gly1074Val)
|
rs2089833187
|
|
NM_000548.5(TSC2):c.3224C>A (p.Thr1075Asn)
|
rs397515024
|
|
NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile)
|
rs397515024
|
|
NM_000548.5(TSC2):c.3229_3258dup (p.Thr1077_Gly1086dup)
|
rs1567498463
|
|
NM_000548.5(TSC2):c.322A>G (p.Ile108Val)
|
rs955754399
|
|
NM_000548.5(TSC2):c.3235T>G (p.Ser1079Ala)
|
rs1555510643
|
|
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3245G>T (p.Gly1082Val)
|
rs2151440096
|
|
NM_000548.5(TSC2):c.3248T>C (p.Leu1083Pro)
|
rs2089839896
|
|
NM_000548.5(TSC2):c.3250G>A (p.Asp1084Asn)
|
rs2151440238
|
|
NM_000548.5(TSC2):c.3251A>G (p.Asp1084Gly)
|
|
|
NM_000548.5(TSC2):c.3251A>T (p.Asp1084Val)
|
|
|
NM_000548.5(TSC2):c.3252C>A (p.Asp1084Glu)
|
rs45517286
|
|
NM_000548.5(TSC2):c.3253T>G (p.Ser1085Ala)
|
rs767655384
|
|
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys)
|
rs1085307762
|
|
NM_000548.5(TSC2):c.3261G>C (p.Glu1087Asp)
|
rs45438093
|
|
NM_000548.5(TSC2):c.3266A>G (p.Gln1089Arg)
|
rs2089843844
|
|
NM_000548.5(TSC2):c.3267G>T (p.Gln1089His)
|
|
|
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)
|
rs1060500936
|
|
NM_000548.5(TSC2):c.3269C>A (p.Ser1090Tyr)
|
rs1596384471
|
|
NM_000548.5(TSC2):c.3269C>G (p.Ser1090Cys)
|
rs1596384471
|
|
NM_000548.5(TSC2):c.3272G>A (p.Gly1091Asp)
|
rs2089845275
|
|
NM_000548.5(TSC2):c.3272G>C (p.Gly1091Ala)
|
|
|
NM_000548.5(TSC2):c.3272G>T (p.Gly1091Val)
|
|
|
NM_000548.5(TSC2):c.3274C>T (p.Pro1092Ser)
|
rs2089845906
|
|
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly)
|
rs796053494
|
|
NM_000548.5(TSC2):c.3283A>G (p.Ser1095Gly)
|
rs2089847209
|
|
NM_000548.5(TSC2):c.3284+3G>A
|
rs2089847916
|
|
NM_000548.5(TSC2):c.3284+3G>C
|
|
|
NM_000548.5(TSC2):c.3284+3G>T
|
|
|
NM_000548.5(TSC2):c.3284+5C>G
|
rs1596384620
|
|
NM_000548.5(TSC2):c.3284+8C>T
|
rs2089849102
|
|
NM_000548.5(TSC2):c.3285-12T>G
|
|
|
NM_000548.5(TSC2):c.3285-13A>T
|
|
|
NM_000548.5(TSC2):c.3285-3C>T
|
rs781023043
|
|
NM_000548.5(TSC2):c.3285-5_3285-3del
|
rs2151443997
|
|
NM_000548.5(TSC2):c.3285-7T>G
|
rs1260593322
|
|
NM_000548.5(TSC2):c.3286T>A (p.Ser1096Thr)
|
|
|
NM_000548.5(TSC2):c.3287C>G (p.Ser1096Cys)
|
rs140772300
|
|
NM_000548.5(TSC2):c.3290G>A (p.Ser1097Asn)
|
rs1060500912
|
|
NM_000548.5(TSC2):c.3292C>G (p.Pro1098Ala)
|
rs772686090
|
|
NM_000548.5(TSC2):c.3295G>T (p.Gly1099Trp)
|
rs776855601
|
|
NM_000548.5(TSC2):c.3296G>T (p.Gly1099Val)
|
rs2151444560
|
|
NM_000548.5(TSC2):c.3298G>A (p.Val1100Met)
|
rs1596385749
|
|
NM_000548.5(TSC2):c.3298G>C (p.Val1100Leu)
|
rs1596385749
|
|
NM_000548.5(TSC2):c.329A>C (p.Gln110Pro)
|
rs2085376654
|
|
NM_000548.5(TSC2):c.329A>G (p.Gln110Arg)
|
rs2085376654
|
|
NM_000548.5(TSC2):c.3305T>G (p.Val1102Gly)
|
|
|
NM_000548.5(TSC2):c.3310C>A (p.Gln1104Lys)
|
rs397514978
|
|
NM_000548.5(TSC2):c.3313A>G (p.Thr1105Ala)
|
rs2089870323
|
|
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile)
|
rs946381749
|
|
NM_000548.5(TSC2):c.3317A>C (p.Lys1106Thr)
|
rs764113584
|
|
NM_000548.5(TSC2):c.3317A>G (p.Lys1106Arg)
|
rs764113584
|
|
NM_000548.5(TSC2):c.3319_3320delinsAT (p.Glu1107Met)
|
rs1596385905
|
|
NM_000548.5(TSC2):c.3319_3320delinsCT (p.Glu1107Leu)
|
rs1596385905
|
|
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)
|
rs1266039524
|
|
NM_000548.5(TSC2):c.3320A>G (p.Glu1107Gly)
|
|
|
NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala)
|
rs1555510880
|
|
NM_000548.5(TSC2):c.3328G>A (p.Ala1110Thr)
|
rs1260370117
|
|
NM_000548.5(TSC2):c.3329C>T (p.Ala1110Val)
|
|
|
NM_000548.5(TSC2):c.3331A>G (p.Lys1111Glu)
|
rs2151445646
|
|
NM_000548.5(TSC2):c.3334C>G (p.Leu1112Val)
|
rs531172613
|
|
NM_000548.5(TSC2):c.3335_3355dup (p.Leu1112_Gln1118dup)
|
rs2089873322
|
|
NM_000548.5(TSC2):c.3337G>A (p.Glu1113Lys)
|
rs1567500491
|
|
NM_000548.5(TSC2):c.3337G>C (p.Glu1113Gln)
|
rs1567500491
|
|
NM_000548.5(TSC2):c.3338A>G (p.Glu1113Gly)
|
rs2151445909
|
|
NM_000548.5(TSC2):c.3340T>G (p.Ser1114Ala)
|
|
|
NM_000548.5(TSC2):c.3340_3351del (p.Ser1114_Gly1117del)
|
rs2089874614
|
|
NM_000548.5(TSC2):c.3341C>A (p.Ser1114Tyr)
|
|
|
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup)
|
rs1567500517
|
|
NM_000548.5(TSC2):c.3345G>T (p.Gln1115His)
|
rs1323724570
|
|
NM_000548.5(TSC2):c.3346G>A (p.Ala1116Thr)
|
rs1369469515
|
|
NM_000548.5(TSC2):c.3347C>G (p.Ala1116Gly)
|
rs878854092
|
|
NM_000548.5(TSC2):c.3347C>T (p.Ala1116Val)
|
rs878854092
|
|
NM_000548.5(TSC2):c.3353A>T (p.Gln1118Leu)
|
rs2089877003
|
|
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg)
|
rs1567500641
|
|
NM_000548.5(TSC2):c.3357G>T (p.Gln1119His)
|
rs1309073649
|
|
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu)
|
rs397514895
|
|
NM_000548.5(TSC2):c.336+19_336+33dup
|
|
|
NM_000548.5(TSC2):c.336+6G>A
|
rs2085379244
|
|
NM_000548.5(TSC2):c.3361T>C (p.Ser1121Pro)
|
|
|
NM_000548.5(TSC2):c.3362C>A (p.Ser1121Tyr)
|
rs1596386254
|
|
NM_000548.5(TSC2):c.3362C>T (p.Ser1121Phe)
|
rs1596386254
|
|
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro)
|
rs369536711
|
|
NM_000548.5(TSC2):c.3365G>T (p.Arg1122Leu)
|
rs369536711
|
|
NM_000548.5(TSC2):c.3367G>T (p.Gly1123Trp)
|
|
|
NM_000548.5(TSC2):c.337-13C>G
|
|
|
NM_000548.5(TSC2):c.337-7T>C
|
|
|
NM_000548.5(TSC2):c.3373C>A (p.Arg1125=)
|
|
|
NM_000548.5(TSC2):c.3375_3386dup (p.Arg1129_Ser1130insAspArgValArg)
|
|
|
NM_000548.5(TSC2):c.3376G>A (p.Asp1126Asn)
|
rs2151447156
|
|
NM_000548.5(TSC2):c.3377A>G (p.Asp1126Gly)
|
rs397514945
|
|
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup)
|
rs1387479871
|
|
NM_000548.5(TSC2):c.3382G>A (p.Val1128Ile)
|
rs1417366523
|
|
NM_000548.5(TSC2):c.338G>A (p.Gly113Asp)
|
|
|
NM_000548.5(TSC2):c.3391A>T (p.Met1131Leu)
|
rs775639244
|
|
NM_000548.5(TSC2):c.3393G>T (p.Met1131Ile)
|
rs1297504532
|
|
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=)
|
rs373004429
|
|
NM_000548.5(TSC2):c.3397+5G>A
|
rs45501492
|
|
NM_000548.5(TSC2):c.3397+6C>G
|
rs955636757
|
|
NM_000548.5(TSC2):c.3397G>A (p.Gly1133Arg)
|
rs1555511031
|
|
NM_000548.5(TSC2):c.3397G>T (p.Gly1133Trp)
|
rs1555511031
|
|
NM_000548.5(TSC2):c.3398-3C>T
|
rs2089951550
|
|
NM_000548.5(TSC2):c.3398G>A (p.Gly1133Glu)
|
rs1208166840
|
|
NM_000548.5(TSC2):c.3400G>A (p.Gly1134Ser)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3400G>T (p.Gly1134Cys)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3401G>C (p.Gly1134Ala)
|
rs766223343
|
|
NM_000548.5(TSC2):c.3403C>A (p.His1135Asn)
|
|
|
NM_000548.5(TSC2):c.3403C>T (p.His1135Tyr)
|
rs2151455693
|
|
NM_000548.5(TSC2):c.3405T>A (p.His1135Gln)
|
|
|
NM_000548.5(TSC2):c.3406G>A (p.Gly1136Ser)
|
rs2089953185
|
|
NM_000548.5(TSC2):c.3406G>C (p.Gly1136Arg)
|
|
|
NM_000548.5(TSC2):c.3409C>G (p.Leu1137Val)
|
|
|
NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro)
|
rs143168379
|
|
NM_000548.5(TSC2):c.3413G>T (p.Arg1138Leu)
|
rs143168379
|
|
NM_000548.5(TSC2):c.3415G>C (p.Val1139Leu)
|
rs759174655
|
|
NM_000548.5(TSC2):c.3416T>C (p.Val1139Ala)
|
rs2089954332
|
|
NM_000548.5(TSC2):c.3419G>A (p.Gly1140Asp)
|
rs2089954788
|
|
NM_000548.5(TSC2):c.3419G>T (p.Gly1140Val)
|
rs2089954788
|
|
NM_000548.5(TSC2):c.3422C>G (p.Ala1141Gly)
|
|
|
NM_000548.5(TSC2):c.3424C>G (p.Leu1142Val)
|
rs1060504111
|
|
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)
|
rs796053513
|
|
NM_000548.5(TSC2):c.3428A>G (p.Asp1143Gly)
|
rs796053495
|
|
NM_000548.5(TSC2):c.3429C>G (p.Asp1143Glu)
|
|
|
NM_000548.5(TSC2):c.342G>C (p.Glu114Asp)
|
rs1555497542
|
|
NM_000548.5(TSC2):c.3430G>C (p.Val1144Leu)
|
|
|
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)
|
rs45517294
|
|
NM_000548.5(TSC2):c.3431T>C (p.Val1144Ala)
|
|
|
NM_000548.5(TSC2):c.3437C>T (p.Ala1146Val)
|
rs2089957253
|
|
NM_000548.5(TSC2):c.343C>A (p.Arg115Ser)
|
|
|
NM_000548.5(TSC2):c.3440C>A (p.Ser1147Tyr)
|
rs779149155
|
|
NM_000548.5(TSC2):c.3442C>A (p.Gln1148Lys)
|
rs45477491
|
|
NM_000548.5(TSC2):c.3442C>G (p.Gln1148Glu)
|
|
|
NM_000548.5(TSC2):c.3443A>C (p.Gln1148Pro)
|
rs1217539900
|
|
NM_000548.5(TSC2):c.3443A>T (p.Gln1148Leu)
|
|
|
NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu)
|
rs1265832990
|
|
NM_000548.5(TSC2):c.3447C>G (p.Phe1149Leu)
|
rs1265832990
|
|
NM_000548.5(TSC2):c.3448C>G (p.Leu1150Val)
|
rs1060504121
|
|
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro)
|
rs764529584
|
|
NM_000548.5(TSC2):c.344G>T (p.Arg115Leu)
|
rs764529584
|
|
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly)
|
rs772215032
|
|
NM_000548.5(TSC2):c.3455G>A (p.Ser1152Asn)
|
rs2089960768
|
|
NM_000548.5(TSC2):c.3455G>T (p.Ser1152Ile)
|
|
|
NM_000548.5(TSC2):c.3457G>A (p.Ala1153Thr)
|
rs1352230225
|
|
NM_000548.5(TSC2):c.3458C>T (p.Ala1153Val)
|
|
|
NM_000548.5(TSC2):c.3460A>C (p.Thr1154Pro)
|
rs1266509754
|
|
NM_000548.5(TSC2):c.3460A>T (p.Thr1154Ser)
|
rs1266509754
|
|
NM_000548.5(TSC2):c.3461C>G (p.Thr1154Ser)
|
rs377137483
|
|
NM_000548.5(TSC2):c.3464C>T (p.Ser1155Phe)
|
rs1060500948
|
|
NM_000548.5(TSC2):c.3466C>T (p.Pro1156Ser)
|
|
|
NM_000548.5(TSC2):c.3469G>A (p.Gly1157Arg)
|
rs1555511390
|
|
NM_000548.5(TSC2):c.346T>G (p.Leu116Val)
|
|
|
NM_000548.5(TSC2):c.3470G>A (p.Gly1157Glu)
|
|
|
NM_000548.5(TSC2):c.3472C>A (p.Pro1158Thr)
|
rs759350468
|
|
NM_000548.5(TSC2):c.3472C>T (p.Pro1158Ser)
|
rs759350468
|
|
NM_000548.5(TSC2):c.3473C>G (p.Pro1158Arg)
|
rs992338076
|
|
NM_000548.5(TSC2):c.3473C>T (p.Pro1158Leu)
|
|
|
NM_000548.5(TSC2):c.3481G>A (p.Ala1161Thr)
|
rs754177014
|
|
NM_000548.5(TSC2):c.3484C>G (p.Pro1162Ala)
|
rs895935495
|
|
NM_000548.5(TSC2):c.3485C>G (p.Pro1162Arg)
|
|
|
NM_000548.5(TSC2):c.3487G>C (p.Ala1163Pro)
|
rs560522093
|
|
NM_000548.5(TSC2):c.3488C>A (p.Ala1163Asp)
|
rs1596390123
|
|
NM_000548.5(TSC2):c.3488C>G (p.Ala1163Gly)
|
rs1596390123
|
|
NM_000548.5(TSC2):c.3488C>T (p.Ala1163Val)
|
rs1596390123
|
|
NM_000548.5(TSC2):c.3495A>T (p.Lys1165Asn)
|
rs1555511443
|
|
NM_000548.5(TSC2):c.3497C>G (p.Pro1166Arg)
|
rs762650392
|
|
NM_000548.5(TSC2):c.3501G>C (p.Glu1167Asp)
|
rs2151459095
|
|
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
|
|
|
NM_000548.5(TSC2):c.3503A>G (p.Lys1168Arg)
|
|
|
NM_000548.5(TSC2):c.3505G>T (p.Ala1169Ser)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3506C>T (p.Ala1169Val)
|
|
|
NM_000548.5(TSC2):c.350G>A (p.Gly117Glu)
|
rs1596264690
|
|
NM_000548.5(TSC2):c.3510_3511delinsCA (p.Ala1171Thr)
|
|
|
NM_000548.5(TSC2):c.3512C>G (p.Ala1171Gly)
|
rs2151459473
|
|
NM_000548.5(TSC2):c.3512C>T (p.Ala1171Val)
|
|
|
NM_000548.5(TSC2):c.3517A>T (p.Thr1173Ser)
|
rs766827673
|
|
NM_000548.5(TSC2):c.3518C>G (p.Thr1173Ser)
|
|
|
NM_000548.5(TSC2):c.3521G>T (p.Arg1174Leu)
|
rs368666554
|
|
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu)
|
rs753110463
|
|
NM_000548.5(TSC2):c.3529G>A (p.Val1177Met)
|
rs1417220666
|
|
NM_000548.5(TSC2):c.352G>A (p.Val118Ile)
|
rs878854094
|
|
NM_000548.5(TSC2):c.3530T>A (p.Val1177Glu)
|
rs1567504468
|
|
NM_000548.5(TSC2):c.3530T>G (p.Val1177Gly)
|
rs1567504468
|
|
NM_000548.5(TSC2):c.3533A>G (p.Gln1178Arg)
|
rs2151460233
|
|
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del)
|
rs1060500937
|
|
NM_000548.5(TSC2):c.3539A>G (p.Lys1180Arg)
|
|
|
NM_000548.5(TSC2):c.3541A>G (p.Thr1181Ala)
|
rs2151460498
|
|
NM_000548.5(TSC2):c.3542C>A (p.Thr1181Lys)
|
rs373481458
|
|
NM_000548.5(TSC2):c.3542C>G (p.Thr1181Arg)
|
rs373481458
|
|
NM_000548.5(TSC2):c.3544A>G (p.Asn1182Asp)
|
rs2089974047
|
|
NM_000548.5(TSC2):c.3544A>T (p.Asn1182Tyr)
|
|
|
NM_000548.5(TSC2):c.3545A>C (p.Asn1182Thr)
|
|
|
NM_000548.5(TSC2):c.3545A>G (p.Asn1182Ser)
|
rs2089974168
|
|
NM_000548.5(TSC2):c.354C>A (p.Val118=)
|
|
|
NM_000548.5(TSC2):c.3551_3556dup (p.Ala1185_Tyr1186insSerAla)
|
|
|
NM_000548.5(TSC2):c.3553G>A (p.Ala1185Thr)
|
rs2151460899
|
|
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser)
|
rs137854421
|
|
NM_000548.5(TSC2):c.3559G>A (p.Val1187Met)
|
rs2151461121
|
|
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)
|
rs1596264734
|
|
NM_000548.5(TSC2):c.3562C>A (p.Pro1188Thr)
|
rs2151461242
|
|
NM_000548.5(TSC2):c.3562C>T (p.Pro1188Ser)
|
|
|
NM_000548.5(TSC2):c.3563C>T (p.Pro1188Leu)
|
|
|
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val)
|
rs796053476
|
|
NM_000548.5(TSC2):c.3568C>G (p.Leu1190Val)
|
rs2151461483
|
|
NM_000548.5(TSC2):c.3575A>C (p.Gln1192Pro)
|
|
|
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg)
|
rs755559677
|
|
NM_000548.5(TSC2):c.3576G>C (p.Gln1192His)
|
rs2151461822
|
|
NM_000548.5(TSC2):c.3576_3577delinsTT (p.Gln1192_Gly1193delinsHisCys)
|
|
|
NM_000548.5(TSC2):c.3578G>T (p.Gly1193Val)
|
rs2089978360
|
|
NM_000548.5(TSC2):c.3583G>A (p.Ala1195Thr)
|
|
|
NM_000548.5(TSC2):c.3583G>C (p.Ala1195Pro)
|
rs2089978833
|
|
NM_000548.5(TSC2):c.3584C>G (p.Ala1195Gly)
|
rs773951533
|
|
NM_000548.5(TSC2):c.3587A>G (p.Glu1196Gly)
|
rs2151462165
|
|
NM_000548.5(TSC2):c.3589A>C (p.Ile1197Leu)
|
rs2089979590
|
|
NM_000548.5(TSC2):c.3589A>G (p.Ile1197Val)
|
rs2089979590
|
|
NM_000548.5(TSC2):c.3590T>A (p.Ile1197Asn)
|
|
|
NM_000548.5(TSC2):c.3591C>G (p.Ile1197Met)
|
|
|
NM_000548.5(TSC2):c.3595G>A (p.Val1199Ile)
|
rs1596390891
|
|
NM_000548.5(TSC2):c.3595G>T (p.Val1199Phe)
|
rs1596390891
|
|
NM_000548.5(TSC2):c.3596T>G (p.Val1199Gly)
|
rs397515088
|
|
NM_000548.5(TSC2):c.3596_3598del (p.Val1199_Arg1200delinsGly)
|
rs2151462525
|
|
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln)
|
rs397515225
|
|
NM_000548.5(TSC2):c.359G>A (p.Arg120Lys)
|
rs2151040587
|
|
NM_000548.5(TSC2):c.3602G>A (p.Arg1201Lys)
|
rs1596390955
|
|
NM_000548.5(TSC2):c.3604C>T (p.Pro1202Ser)
|
|
|
NM_000548.5(TSC2):c.3607A>C (p.Thr1203Pro)
|
rs397515265
|
|
NM_000548.5(TSC2):c.3608C>G (p.Thr1203Arg)
|
rs397515030
|
|
NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)
|
|
|
NM_000548.5(TSC2):c.3609A>G (p.Thr1203=)
|
rs1567505082
|
|
NM_000548.5(TSC2):c.3610+4C>G
|
rs201978396
|
|
NM_000548.5(TSC2):c.3610+5T>C
|
rs2151463070
|
|
NM_000548.5(TSC2):c.3611-3C>T
|
rs753716627
|
|
NM_000548.5(TSC2):c.3611-5C>A
|
rs200194551
|
|
NM_000548.5(TSC2):c.3611G>C (p.Gly1204Ala)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3614A>G (p.Asn1205Ser)
|
|
|
NM_000548.5(TSC2):c.3615C>G (p.Asn1205Lys)
|
rs924403519
|
|
NM_000548.5(TSC2):c.3617C>G (p.Thr1206Ser)
|
rs2090150662
|
|
NM_000548.5(TSC2):c.3620G>C (p.Ser1207Thr)
|
|
|
NM_000548.5(TSC2):c.362C>A (p.Ala121Asp)
|
|
|
NM_000548.5(TSC2):c.362C>T (p.Ala121Val)
|
rs767755750
|
|
NM_000548.5(TSC2):c.3632G>A (p.Ser1211Asn)
|
|
|
NM_000548.5(TSC2):c.3634C>A (p.Leu1212Met)
|
rs1358537146
|
|
NM_000548.5(TSC2):c.3634C>G (p.Leu1212Val)
|
rs1358537146
|
|
NM_000548.5(TSC2):c.3637G>A (p.Glu1213Lys)
|
|
|
NM_000548.5(TSC2):c.3638A>T (p.Glu1213Val)
|
rs1555512322
|
|
NM_000548.5(TSC2):c.3642C>A (p.Asn1214Lys)
|
|
|
NM_000548.5(TSC2):c.3643C>G (p.Pro1215Ala)
|
rs1555512332
|
|
NM_000548.5(TSC2):c.3643C>T (p.Pro1215Ser)
|
rs1555512332
|
|
NM_000548.5(TSC2):c.3644C>A (p.Pro1215Gln)
|
rs933257311
|
|
NM_000548.5(TSC2):c.3646C>T (p.Leu1216Phe)
|
|
|
NM_000548.5(TSC2):c.3647_3648delinsCT (p.Leu1216Pro)
|
|
|
NM_000548.5(TSC2):c.3649A>C (p.Ser1217Arg)
|
|
|
NM_000548.5(TSC2):c.3650G>A (p.Ser1217Asn)
|
rs2151481330
|
|
NM_000548.5(TSC2):c.3659C>G (p.Ser1220Cys)
|
rs2090155420
|
|
NM_000548.5(TSC2):c.3659C>T (p.Ser1220Phe)
|
rs2090155420
|
|
NM_000548.5(TSC2):c.365T>C (p.Leu122Pro)
|
|
|
NM_000548.5(TSC2):c.3661T>A (p.Ser1221Thr)
|
rs2151481521
|
|
NM_000548.5(TSC2):c.3662C>T (p.Ser1221Leu)
|
rs45517305
|
|
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del)
|
rs1342475885
|
|
NM_000548.5(TSC2):c.3670A>C (p.Asn1224His)
|
|
|
NM_000548.5(TSC2):c.3671A>G (p.Asn1224Ser)
|
rs1434962054
|
|
NM_000548.5(TSC2):c.3671ACA[1] (p.Asn1225del)
|
rs2151481692
|
|
NM_000548.5(TSC2):c.3674A>G (p.Asn1225Ser)
|
rs1037743572
|
|
NM_000548.5(TSC2):c.3677T>C (p.Met1226Thr)
|
rs2090157003
|
|
NM_000548.5(TSC2):c.3678G>A (p.Met1226Ile)
|
rs2151481846
|
|
NM_000548.5(TSC2):c.3679C>T (p.Pro1227Ser)
|
rs1555512392
|
|
NM_000548.5(TSC2):c.367T>C (p.Phe123Leu)
|
|
|
NM_000548.5(TSC2):c.3680C>T (p.Pro1227Leu)
|
rs2090157247
|
|
NM_000548.5(TSC2):c.3682C>A (p.Leu1228Met)
|
rs938124834
|
|
NM_000548.5(TSC2):c.3686A>G (p.Gln1229Arg)
|
rs1060500962
|
|
NM_000548.5(TSC2):c.3687G>T (p.Gln1229His)
|
|
|
NM_000548.5(TSC2):c.3688G>A (p.Glu1230Lys)
|
|
|
NM_000548.5(TSC2):c.3688G>C (p.Glu1230Gln)
|
rs2151482097
|
|
NM_000548.5(TSC2):c.3692T>C (p.Leu1231Pro)
|
rs1055582947
|
|
NM_000548.5(TSC2):c.3698A>T (p.Asn1233Ile)
|
rs1412376534
|
|
NM_000548.5(TSC2):c.369C>G (p.Phe123Leu)
|
rs1567399252
|
|
NM_000548.5(TSC2):c.3700G>A (p.Ala1234Thr)
|
rs2090160412
|
|
NM_000548.5(TSC2):c.3701C>T (p.Ala1234Val)
|
|
|
NM_000548.5(TSC2):c.3703C>G (p.Leu1235Val)
|
|
|
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr)
|
rs1567510644
|
|
NM_000548.5(TSC2):c.3708G>A (p.Met1236Ile)
|
|
|
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)
|
rs547231441
|
|
NM_000548.5(TSC2):c.3712G>A (p.Ala1238Thr)
|
|
|
NM_000548.5(TSC2):c.3719G>A (p.Arg1240His)
|
rs1567510707
|
|
NM_000548.5(TSC2):c.3719G>T (p.Arg1240Leu)
|
rs1567510707
|
|
NM_000548.5(TSC2):c.3721T>C (p.Phe1241Leu)
|
rs2090162360
|
|
NM_000548.5(TSC2):c.3723C>A (p.Phe1241Leu)
|
rs45486193
|
|
NM_000548.5(TSC2):c.3725A>G (p.Lys1242Arg)
|
rs1567510728
|
|
NM_000548.5(TSC2):c.3726G>C (p.Lys1242Asn)
|
rs1596400322
|
|
NM_000548.5(TSC2):c.3728A>G (p.Glu1243Gly)
|
|
|
NM_000548.5(TSC2):c.3730C>A (p.His1244Asn)
|
rs993614997
|
|
NM_000548.5(TSC2):c.3731A>C (p.His1244Pro)
|
rs2151483079
|
|
NM_000548.5(TSC2):c.3731A>G (p.His1244Arg)
|
|
|
NM_000548.5(TSC2):c.3734G>C (p.Arg1245Pro)
|
rs746588726
|
|
NM_000548.5(TSC2):c.3734_3745del (p.Arg1245_Ala1248del)
|
|
|
NM_000548.5(TSC2):c.3736G>A (p.Asp1246Asn)
|
rs1596400382
|
|
NM_000548.5(TSC2):c.3736G>C (p.Asp1246His)
|
rs1596400382
|
|
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg)
|
rs2151483328
|
|
NM_000548.5(TSC2):c.3740C>T (p.Thr1247Ile)
|
|
|
NM_000548.5(TSC2):c.3743C>T (p.Ala1248Val)
|
rs745342041
|
|
NM_000548.5(TSC2):c.3745C>A (p.Leu1249Met)
|
rs1596400436
|
|
NM_000548.5(TSC2):c.3745C>G (p.Leu1249Val)
|
rs1596400436
|
|
NM_000548.5(TSC2):c.3746T>C (p.Leu1249Pro)
|
|
|
NM_000548.5(TSC2):c.3749A>G (p.Tyr1250Cys)
|
rs1596400479
|
|
NM_000548.5(TSC2):c.3751A>G (p.Lys1251Glu)
|
rs2090165820
|
|
NM_000548.5(TSC2):c.3753G>T (p.Lys1251Asn)
|
rs1567511020
|
|
NM_000548.5(TSC2):c.375G>A (p.Lys125=)
|
rs778928295
|
|
NM_000548.5(TSC2):c.3761C>G (p.Ser1254Trp)
|
rs1596400563
|
|
NM_000548.5(TSC2):c.3761C>T (p.Ser1254Leu)
|
rs1596400563
|
|
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu)
|
rs1596400594
|
|
NM_000548.5(TSC2):c.376G>A (p.Val126Ile)
|
rs1458070269
|
|
NM_000548.5(TSC2):c.376G>T (p.Val126Phe)
|
rs1458070269
|
|
NM_000548.5(TSC2):c.3772G>C (p.Ala1258Pro)
|
rs2090168528
|
|
NM_000548.5(TSC2):c.3773C>G (p.Ala1258Gly)
|
rs1060500958
|
|
NM_000548.5(TSC2):c.3776G>A (p.Ser1259Asn)
|
rs1596400661
|
|
NM_000548.5(TSC2):c.3779C>G (p.Thr1260Arg)
|
rs776738338
|
|
NM_000548.5(TSC2):c.377T>C (p.Val126Ala)
|
rs2085502098
|
|
NM_000548.5(TSC2):c.3781G>A (p.Ala1261Thr)
|
rs2090170043
|
|
NM_000548.5(TSC2):c.3785A>T (p.Lys1262Ile)
|
|
|
NM_000548.5(TSC2):c.3788C>A (p.Pro1263His)
|
|
|
NM_000548.5(TSC2):c.3790C>A (p.Pro1264Thr)
|
|
|
NM_000548.5(TSC2):c.3790C>T (p.Pro1264Ser)
|
rs2090171531
|
|
NM_000548.5(TSC2):c.3791CTC[1] (p.Pro1265del)
|
rs876658759
|
|
NM_000548.5(TSC2):c.3796C>G (p.Leu1266Val)
|
|
|
NM_000548.5(TSC2):c.379A>G (p.Ile127Val)
|
rs1207714822
|
|
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys)
|
rs1555494586
|
|
NM_000548.5(TSC2):c.37_39del (p.Glu13del)
|
rs778509364
|
|
NM_000548.5(TSC2):c.3800C>T (p.Pro1267Leu)
|
rs1245115663
|
|
NM_000548.5(TSC2):c.3803G>C (p.Arg1268Pro)
|
|
|
NM_000548.5(TSC2):c.3803G>T (p.Arg1268Leu)
|
rs200577441
|
|
NM_000548.5(TSC2):c.3805T>C (p.Ser1269Pro)
|
rs991523072
|
|
NM_000548.5(TSC2):c.3808A>C (p.Asn1270His)
|
|
|
NM_000548.5(TSC2):c.380T>C (p.Ile127Thr)
|
|
|
NM_000548.5(TSC2):c.3812C>G (p.Thr1271Arg)
|
rs1567511623
|
|
NM_000548.5(TSC2):c.3812C>T (p.Thr1271Ile)
|
rs1567511623
|
|
NM_000548.5(TSC2):c.3814G>C (p.Val1272Leu)
|
rs2090175224
|
|
NM_000548.5(TSC2):c.3815-15G>T
|
|
|
NM_000548.5(TSC2):c.3815-16C>A
|
|
|
NM_000548.5(TSC2):c.3815-16del
|
rs2151492015
|
|
NM_000548.5(TSC2):c.3815-18C>G
|
rs947736117
|
|
NM_000548.5(TSC2):c.3815-2A>G
|
|
|
NM_000548.5(TSC2):c.3815-2A>T
|
rs1567513626
|
|
NM_000548.5(TSC2):c.3815-5T>A
|
|
|
NM_000548.5(TSC2):c.3815-8C>G
|
rs1596404187
|
|
NM_000548.5(TSC2):c.3815-9C>G
|
rs1060504091
|
|
NM_000548.5(TSC2):c.3815T>C (p.Val1272Ala)
|
|
|
NM_000548.5(TSC2):c.3815T>G (p.Val1272Gly)
|
rs1319528505
|
|
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr)
|
rs1596404280
|
|
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs)
|
rs1555512845
|
|
NM_000548.5(TSC2):c.3823T>C (p.Phe1275Leu)
|
rs2090258908
|
|
NM_000548.5(TSC2):c.3824del (p.Phe1275fs)
|
rs1185513978
|
|
NM_000548.5(TSC2):c.3826T>G (p.Ser1276Ala)
|
rs2151492520
|
|
NM_000548.5(TSC2):c.3829T>G (p.Ser1277Ala)
|
rs2090259818
|
|
NM_000548.5(TSC2):c.382A>C (p.Lys128Gln)
|
|
|
NM_000548.5(TSC2):c.382A>G (p.Lys128Glu)
|
|
|
NM_000548.5(TSC2):c.3833T>C (p.Leu1278Pro)
|
rs568015523
|
|
NM_000548.5(TSC2):c.3835dup (p.Tyr1279fs)
|
|
|
NM_000548.5(TSC2):c.3837C>G (p.Tyr1279Ter)
|
rs1555512861
|
|
NM_000548.5(TSC2):c.3839A>G (p.Gln1280Arg)
|
|
|
NM_000548.5(TSC2):c.3839A>T (p.Gln1280Leu)
|
rs1596404506
|
|
NM_000548.5(TSC2):c.383A>C (p.Lys128Thr)
|
|
|
NM_000548.5(TSC2):c.3840G>C (p.Gln1280His)
|
rs1060500941
|
|
NM_000548.5(TSC2):c.3841T>G (p.Ser1281Ala)
|
rs1358527360
|
|
NM_000548.5(TSC2):c.3844A>C (p.Ser1282Arg)
|
rs45446700
|
|
NM_000548.5(TSC2):c.3845G>T (p.Ser1282Ile)
|
rs1596404603
|
|
NM_000548.5(TSC2):c.3850C>G (p.Gln1284Glu)
|
|
|
NM_000548.5(TSC2):c.3853G>A (p.Gly1285Arg)
|
rs2090264891
|
|
NM_000548.5(TSC2):c.3854G>A (p.Gly1285Glu)
|
rs2090265081
|
|
NM_000548.5(TSC2):c.3856C>T (p.Gln1286Ter)
|
rs2151493215
|
|
NM_000548.5(TSC2):c.3863A>C (p.His1288Pro)
|
rs1567514069
|
|
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly)
|
rs2090265922
|
|
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del)
|
rs1567514084
|
|
NM_000548.5(TSC2):c.386A>T (p.Asp129Val)
|
rs1555497612
|
|
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg)
|
rs754466663
|
|
NM_000548.5(TSC2):c.3871G>T (p.Val1291Phe)
|
rs201135184
|
|
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe)
|
rs796053497
|
|
NM_000548.5(TSC2):c.3877T>C (p.Trp1293Arg)
|
|
|
NM_000548.5(TSC2):c.3878G>A (p.Trp1293Ter)
|
rs2090268487
|
|
NM_000548.5(TSC2):c.3880G>A (p.Ala1294Thr)
|
|
|
NM_000548.5(TSC2):c.3883+1G>A
|
rs2090268989
|
|
NM_000548.5(TSC2):c.3883+1G>T
|
|
|
NM_000548.5(TSC2):c.3883+2T>C
|
|
|
NM_000548.5(TSC2):c.3883+3A>G
|
rs1366233650
|
|
NM_000548.5(TSC2):c.3883+4T>C
|
rs2090269579
|
|
NM_000548.5(TSC2):c.3884A>G (p.Asp1295Gly)
|
rs2090416468
|
|
NM_000548.5(TSC2):c.3886T>G (p.Ser1296Ala)
|
|
|
NM_000548.5(TSC2):c.3886_3942dup (p.Pro1314_Pro1315insSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluPro)
|
|
|
NM_000548.5(TSC2):c.3887C>A (p.Ser1296Tyr)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.3898A>G (p.Met1300Val)
|
rs1596411880
|
|
NM_000548.5(TSC2):c.3899T>G (p.Met1300Arg)
|
|
|
NM_000548.5(TSC2):c.3901G>A (p.Glu1301Lys)
|
rs2090419072
|
|
NM_000548.5(TSC2):c.3903G>T (p.Glu1301Asp)
|
rs1429956058
|
|
NM_000548.5(TSC2):c.3904G>A (p.Glu1302Lys)
|
|
|
NM_000548.5(TSC2):c.3908G>A (p.Gly1303Glu)
|
|
|
NM_000548.5(TSC2):c.3910A>C (p.Ser1304Arg)
|
|
|
NM_000548.5(TSC2):c.3912T>G (p.Ser1304Arg)
|
|
|
NM_000548.5(TSC2):c.3914C>A (p.Pro1305Gln)
|
rs45517320
|
|
NM_000548.5(TSC2):c.3914C>G (p.Pro1305Arg)
|
rs45517320
|
|
NM_000548.5(TSC2):c.3917G>A (p.Gly1306Asp)
|
rs1567518028
|
|
NM_000548.5(TSC2):c.391C>A (p.Pro131Thr)
|
rs777398393
|
|
NM_000548.5(TSC2):c.3925C>T (p.Pro1309Ser)
|
rs1049538280
|
|
NM_000548.5(TSC2):c.3926C>T (p.Pro1309Leu)
|
rs1356621621
|
|
NM_000548.5(TSC2):c.392C>G (p.Pro131Arg)
|
rs1487984678
|
|
NM_000548.5(TSC2):c.3931C>G (p.Leu1311Val)
|
|
|
NM_000548.5(TSC2):c.3932T>G (p.Leu1311Arg)
|
rs2090422516
|
|
NM_000548.5(TSC2):c.3934G>T (p.Val1312Leu)
|
rs201584397
|
|
NM_000548.5(TSC2):c.3937G>A (p.Glu1313Lys)
|
rs45517321
|
|
NM_000548.5(TSC2):c.3937G>C (p.Glu1313Gln)
|
rs45517321
|
|
NM_000548.5(TSC2):c.3943C>G (p.Pro1315Ala)
|
rs397514916
|
|
NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser)
|
rs397514916
|
|
NM_000548.5(TSC2):c.3946G>A (p.Gly1316Arg)
|
rs1555513510
|
|
NM_000548.5(TSC2):c.3947G>A (p.Gly1316Glu)
|
rs1555513513
|
|
NM_000548.5(TSC2):c.3947G>C (p.Gly1316Ala)
|
rs1555513513
|
|
NM_000548.5(TSC2):c.394T>C (p.Ser132Pro)
|
rs1191673224
|
|
NM_000548.5(TSC2):c.3950T>C (p.Leu1317Ser)
|
rs2090425460
|
|
NM_000548.5(TSC2):c.3951G>C (p.Leu1317Phe)
|
rs2090425580
|
|
NM_000548.5(TSC2):c.3952G>A (p.Glu1318Lys)
|
rs1064793797
|
|
NM_000548.5(TSC2):c.3955G>C (p.Asp1319His)
|
|
|
NM_000548.5(TSC2):c.3956A>G (p.Asp1319Gly)
|
rs45517322
|
|
NM_000548.5(TSC2):c.3958G>T (p.Val1320Phe)
|
|
|
NM_000548.5(TSC2):c.3962A>G (p.Glu1321Gly)
|
rs587778736
|
|
NM_000548.5(TSC2):c.3963G>T (p.Glu1321Asp)
|
|
|
NM_000548.5(TSC2):c.3967G>T (p.Ala1323Ser)
|
|
|
NM_000548.5(TSC2):c.3968C>A (p.Ala1323Glu)
|
rs397515062
|
|
NM_000548.5(TSC2):c.3970C>G (p.Leu1324Val)
|
rs549060036
|
|
NM_000548.5(TSC2):c.3971T>A (p.Leu1324Gln)
|
rs878854098
|
|
NM_000548.5(TSC2):c.3971T>C (p.Leu1324Pro)
|
rs878854098
|
|
NM_000548.5(TSC2):c.3973G>A (p.Gly1325Ser)
|
rs2151513235
|
|
NM_000548.5(TSC2):c.3974G>T (p.Gly1325Val)
|
rs754680848
|
|
NM_000548.5(TSC2):c.3975C>T (p.Gly1325=)
|
|
|
NM_000548.5(TSC2):c.3976A>G (p.Met1326Val)
|
|
|
NM_000548.5(TSC2):c.3976A>T (p.Met1326Leu)
|
|
|
NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr)
|
rs2090429801
|
|
NM_000548.5(TSC2):c.3979G>C (p.Asp1327His)
|
|
|
NM_000548.5(TSC2):c.3980A>G (p.Asp1327Gly)
|
rs1555513553
|
|
NM_000548.5(TSC2):c.3983G>A (p.Arg1328Lys)
|
rs112885324
|
|
NM_000548.5(TSC2):c.3983G>T (p.Arg1328Met)
|
rs112885324
|
|
NM_000548.5(TSC2):c.3988A>G (p.Thr1330Ala)
|
rs1555513561
|
|
NM_000548.5(TSC2):c.3989C>A (p.Thr1330Lys)
|
|
|
NM_000548.5(TSC2):c.3989C>G (p.Thr1330Arg)
|
rs397515209
|
|
NM_000548.5(TSC2):c.3991G>A (p.Asp1331Asn)
|
rs770396146
|
|
NM_000548.5(TSC2):c.3992A>C (p.Asp1331Ala)
|
|
|
NM_000548.5(TSC2):c.3992A>G (p.Asp1331Gly)
|
rs2090433367
|
|
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro)
|
rs1555513574
|
|
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys)
|
rs878854099
|
|
NM_000548.5(TSC2):c.399C>A (p.Asn133Lys)
|
rs746704620
|
|
NM_000548.5(TSC2):c.4001G>C (p.Ser1334Thr)
|
|
|
NM_000548.5(TSC2):c.4001G>T (p.Ser1334Ile)
|
|
|
NM_000548.5(TSC2):c.4003A>G (p.Arg1335Gly)
|
|
|
NM_000548.5(TSC2):c.4003A>T (p.Arg1335Trp)
|
|
|
NM_000548.5(TSC2):c.4004G>A (p.Arg1335Lys)
|
rs1403658994
|
|
NM_000548.5(TSC2):c.4004G>C (p.Arg1335Thr)
|
rs1403658994
|
|
NM_000548.5(TSC2):c.4004G>T (p.Arg1335Met)
|
|
|
NM_000548.5(TSC2):c.4005+3G>C
|
|
|
NM_000548.5(TSC2):c.4005+5G>A
|
|
|
NM_000548.5(TSC2):c.4005+6T>C
|
rs2151514450
|
|
NM_000548.5(TSC2):c.4005G>A (p.Arg1335=)
|
|
|
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser)
|
rs2090436302
|
|
NM_000548.5(TSC2):c.4006-10T>G
|
rs2090477960
|
|
NM_000548.5(TSC2):c.4006-17G>A
|
|
|
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp)
|
rs148527903
|
|
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del)
|
rs1567520255
|
|
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.4010C>A (p.Ser1337Tyr)
|
rs200411484
|
|
NM_000548.5(TSC2):c.4013C>T (p.Ser1338Leu)
|
rs2151520475
|
|
NM_000548.5(TSC2):c.4019C>G (p.Ser1340Cys)
|
rs753656246
|
|
NM_000548.5(TSC2):c.401A>G (p.Glu134Gly)
|
rs2151042080
|
|
NM_000548.5(TSC2):c.4021A>G (p.Ser1341Gly)
|
rs2090480803
|
|
NM_000548.5(TSC2):c.4022G>C (p.Ser1341Thr)
|
|
|
NM_000548.5(TSC2):c.4025A>G (p.Gln1342Arg)
|
rs1060500951
|
|
NM_000548.5(TSC2):c.4028A>G (p.Glu1343Gly)
|
rs2090481775
|
|
NM_000548.5(TSC2):c.4031A>G (p.Glu1344Gly)
|
rs2090482288
|
|
NM_000548.5(TSC2):c.4033A>G (p.Lys1345Glu)
|
|
|
NM_000548.5(TSC2):c.4033_4053dup (p.Lys1345_Glu1351dup)
|
rs1596415359
|
|
NM_000548.5(TSC2):c.4034A>T (p.Lys1345Met)
|
rs1302353294
|
|
NM_000548.5(TSC2):c.4035G>C (p.Lys1345Asn)
|
rs1335576471
|
|
NM_000548.5(TSC2):c.4039C>T (p.Leu1347Phe)
|
rs377050648
|
|
NM_000548.5(TSC2):c.4042C>T (p.His1348Tyr)
|
rs2151521367
|
|
NM_000548.5(TSC2):c.4046C>A (p.Ala1349Glu)
|
rs201979616
|
|
NM_000548.5(TSC2):c.4048G>A (p.Glu1350Lys)
|
|
|
NM_000548.5(TSC2):c.4049A>T (p.Glu1350Val)
|
rs1378842608
|
|
NM_000548.5(TSC2):c.404A>G (p.Asp135Gly)
|
rs2085506301
|
|
NM_000548.5(TSC2):c.4051_4052delinsTT (p.Glu1351Leu)
|
rs2151521631
|
|
NM_000548.5(TSC2):c.4054C>G (p.Leu1352Val)
|
rs2090485397
|
|
NM_000548.5(TSC2):c.4057G>T (p.Val1353Phe)
|
rs373982157
|
|
NM_000548.5(TSC2):c.4058T>C (p.Val1353Ala)
|
rs2151521778
|
|
NM_000548.5(TSC2):c.4060G>A (p.Gly1354Ser)
|
|
|
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp)
|
rs878854102
|
|
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)
|
rs747104864
|
|
NM_000548.5(TSC2):c.4068C>T (p.Gly1356=)
|
rs2090486866
|
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
|
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4075A>T (p.Ile1359Phe)
|
rs2151522243
|
|
NM_000548.5(TSC2):c.4077C>G (p.Ile1359Met)
|
rs150999168
|
|
NM_000548.5(TSC2):c.4078G>C (p.Glu1360Gln)
|
rs397514997
|
|
NM_000548.5(TSC2):c.4081C>T (p.Arg1361Ter)
|
rs560831385
|
|
NM_000548.5(TSC2):c.4082G>C (p.Arg1361Pro)
|
rs762798984
|
|
NM_000548.5(TSC2):c.4084G>T (p.Val1362Phe)
|
rs2090489392
|
|
NM_000548.5(TSC2):c.4085_4086inv (p.Val1362Gly)
|
|
|
NM_000548.5(TSC2):c.4087G>T (p.Val1363Phe)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del)
|
rs755101865
|
|
NM_000548.5(TSC2):c.4090_4091delinsGT (p.Ser1364Val)
|
rs1060500956
|
|
NM_000548.5(TSC2):c.4091C>G (p.Ser1364Cys)
|
|
|
NM_000548.5(TSC2):c.409C>T (p.His137Tyr)
|
rs1596265133
|
|
NM_000548.5(TSC2):c.4102G>A (p.Gly1368Ser)
|
rs1596415966
|
|
NM_000548.5(TSC2):c.4102G>C (p.Gly1368Arg)
|
rs1596415966
|
|
NM_000548.5(TSC2):c.4103G>A (p.Gly1368Asp)
|
rs1596415974
|
|
NM_000548.5(TSC2):c.4103G>T (p.Gly1368Val)
|
rs1596415974
|
|
NM_000548.5(TSC2):c.410A>G (p.His137Arg)
|
rs45517107
|
|
NM_000548.5(TSC2):c.4112C>G (p.Ser1371Cys)
|
rs1060500929
|
|
NM_000548.5(TSC2):c.4114G>A (p.Val1372Met)
|
rs2090494113
|
|
NM_000548.5(TSC2):c.4114G>C (p.Val1372Leu)
|
rs2090494113
|
|
NM_000548.5(TSC2):c.4114G>T (p.Val1372Leu)
|
|
|
NM_000548.5(TSC2):c.4118A>G (p.Asp1373Gly)
|
rs1596416094
|
|
NM_000548.5(TSC2):c.4119C>G (p.Asp1373Glu)
|
rs2090494735
|
|
NM_000548.5(TSC2):c.411C>G (p.His137Gln)
|
rs776129896
|
|
NM_000548.5(TSC2):c.4120C>T (p.Leu1374Phe)
|
|
|
NM_000548.5(TSC2):c.4121T>G (p.Leu1374Arg)
|
rs2151523920
|
|
NM_000548.5(TSC2):c.4124C>G (p.Ser1375Cys)
|
rs145476528
|
|
NM_000548.5(TSC2):c.412G>C (p.Glu138Gln)
|
|
|
NM_000548.5(TSC2):c.4132C>A (p.Pro1378Thr)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4132C>G (p.Pro1378Ala)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4132C>T (p.Pro1378Ser)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4133C>G (p.Pro1378Arg)
|
rs1596416159
|
|
NM_000548.5(TSC2):c.4139_4165dup (p.Gln1380_Ser1388dup)
|
rs2151524475
|
|
NM_000548.5(TSC2):c.413A>G (p.Glu138Gly)
|
rs2151042580
|
|
NM_000548.5(TSC2):c.413A>T (p.Glu138Val)
|
|
|
NM_000548.5(TSC2):c.4140_4166dup (p.Pro1381_Pro1389dup)
|
rs1555514052
|
|
NM_000548.5(TSC2):c.4141C>A (p.Pro1381Thr)
|
|
|
NM_000548.5(TSC2):c.4141C>T (p.Pro1381Ser)
|
rs2090497403
|
|
NM_000548.5(TSC2):c.4148G>C (p.Ser1383Thr)
|
rs1596416285
|
|
NM_000548.5(TSC2):c.4157G>A (p.Ser1386Asn)
|
rs1555514071
|
|
NM_000548.5(TSC2):c.4157G>C (p.Ser1386Thr)
|
rs1555514071
|
|
NM_000548.5(TSC2):c.4157G>T (p.Ser1386Ile)
|
|
|
NM_000548.5(TSC2):c.4163C>T (p.Ser1388Phe)
|
rs764039393
|
|
NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser)
|
rs1057520843
|
|
NM_000548.5(TSC2):c.4166C>T (p.Pro1389Leu)
|
rs1596416369
|
|
NM_000548.5(TSC2):c.4167C>A (p.Pro1389=)
|
rs45508504
|
|
NM_000548.5(TSC2):c.416G>A (p.Arg139Lys)
|
rs2085508015
|
|
NM_000548.5(TSC2):c.416G>T (p.Arg139Met)
|
|
|
NM_000548.5(TSC2):c.4176G>C (p.Gln1392His)
|
rs749930791
|
|
NM_000548.5(TSC2):c.4176G>T (p.Gln1392His)
|
rs749930791
|
|
NM_000548.5(TSC2):c.4177A>G (p.Thr1393Ala)
|
|
|
NM_000548.5(TSC2):c.4178C>G (p.Thr1393Ser)
|
rs755583869
|
|
NM_000548.5(TSC2):c.4178C>T (p.Thr1393Ile)
|
|
|
NM_000548.5(TSC2):c.4184A>G (p.Gln1395Arg)
|
|
|
NM_000548.5(TSC2):c.4185G>C (p.Gln1395His)
|
rs2151526541
|
|
NM_000548.5(TSC2):c.4185G>T (p.Gln1395His)
|
rs2151526541
|
|
NM_000548.5(TSC2):c.4189A>G (p.Ile1397Val)
|
rs1596416534
|
|
NM_000548.5(TSC2):c.4190T>A (p.Ile1397Asn)
|
rs2090503435
|
|
NM_000548.5(TSC2):c.4190T>C (p.Ile1397Thr)
|
rs2090503435
|
|
NM_000548.5(TSC2):c.4192C>T (p.Leu1398Phe)
|
rs1060500928
|
|
NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn)
|
rs762368225
|
|
NM_000548.5(TSC2):c.419T>C (p.Leu140Pro)
|
rs2151042793
|
|
NM_000548.5(TSC2):c.41A>G (p.Lys14Arg)
|
rs1263108967
|
|
NM_000548.5(TSC2):c.4201C>A (p.Pro1401Thr)
|
rs778147657
|
|
NM_000548.5(TSC2):c.4202C>G (p.Pro1401Arg)
|
rs1596416623
|
|
NM_000548.5(TSC2):c.4202C>T (p.Pro1401Leu)
|
rs1596416623
|
|
NM_000548.5(TSC2):c.4204G>A (p.Gly1402Arg)
|
rs2151527362
|
|
NM_000548.5(TSC2):c.4205_4237del (p.Gly1402_Pro1412del)
|
rs2151527185
|
|
NM_000548.5(TSC2):c.4206G>T (p.Gly1402=)
|
rs2090505727
|
|
NM_000548.5(TSC2):c.4207G>A (p.Asp1403Asn)
|
|
|
NM_000548.5(TSC2):c.4207G>T (p.Asp1403Tyr)
|
rs1288307487
|
|
NM_000548.5(TSC2):c.4209C>G (p.Asp1403Glu)
|
rs1257841799
|
|
NM_000548.5(TSC2):c.4210A>C (p.Lys1404Gln)
|
|
|
NM_000548.5(TSC2):c.4212G>C (p.Lys1404Asn)
|
rs2090506660
|
|
NM_000548.5(TSC2):c.4214C>A (p.Ala1405Asp)
|
|
|
NM_000548.5(TSC2):c.4217_4219del (p.Asp1406del)
|
rs2090507183
|
|
NM_000548.5(TSC2):c.421G>C (p.Glu141Gln)
|
|
|
NM_000548.5(TSC2):c.4220T>G (p.Val1407Gly)
|
rs1555514182
|
|
NM_000548.5(TSC2):c.4220_4222del (p.Val1407del)
|
rs1264774699
|
|
NM_000548.5(TSC2):c.4223G>C (p.Gly1408Ala)
|
rs202068995
|
|
NM_000548.5(TSC2):c.422A>G (p.Glu141Gly)
|
rs1446616583
|
|
NM_000548.5(TSC2):c.4233C>A (p.Ser1411Arg)
|
|
|
NM_000548.5(TSC2):c.4234C>T (p.Pro1412Ser)
|
rs1480313663
|
|
NM_000548.5(TSC2):c.4237G>A (p.Glu1413Lys)
|
|
|
NM_000548.5(TSC2):c.423_424delinsAA (p.Val142Ile)
|
rs2085508858
|
|
NM_000548.5(TSC2):c.4241T>C (p.Val1414Ala)
|
|
|
NM_000548.5(TSC2):c.4245G>T (p.Lys1415Asn)
|
rs1431882138
|
|
NM_000548.5(TSC2):c.4247C>G (p.Ala1416Gly)
|
|
|
NM_000548.5(TSC2):c.4247C>T (p.Ala1416Val)
|
rs2090510754
|
|
NM_000548.5(TSC2):c.424G>C (p.Val142Leu)
|
rs2151043003
|
|
NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln)
|
rs1343536158
|
|
NM_000548.5(TSC2):c.4255C>G (p.Gln1419Glu)
|
rs45437193
|
|
NM_000548.5(TSC2):c.425T>A (p.Val142Asp)
|
|
|
NM_000548.5(TSC2):c.4267C>G (p.Leu1423Val)
|
|
|
NM_000548.5(TSC2):c.4268T>C (p.Leu1423Pro)
|
rs1567523138
|
|
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His)
|
rs1216613310
|
|
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly)
|
rs876659933
|
|
NM_000548.5(TSC2):c.4272C>A (p.Asp1424Glu)
|
|
|
NM_000548.5(TSC2):c.4272C>G (p.Asp1424Glu)
|
rs371541319
|
|
NM_000548.5(TSC2):c.4276G>A (p.Glu1426Lys)
|
|
|
NM_000548.5(TSC2):c.4277A>C (p.Glu1426Ala)
|
|
|
NM_000548.5(TSC2):c.4277A>G (p.Glu1426Gly)
|
rs2090515740
|
|
NM_000548.5(TSC2):c.4280G>C (p.Ser1427Thr)
|
rs397515250
|
|
NM_000548.5(TSC2):c.4280G>T (p.Ser1427Ile)
|
rs397515250
|
|
NM_000548.5(TSC2):c.4283C>T (p.Ala1428Val)
|
rs2151530908
|
|
NM_000548.5(TSC2):c.4285G>A (p.Ala1429Thr)
|
|
|
NM_000548.5(TSC2):c.4286C>G (p.Ala1429Gly)
|
rs757579310
|
|
NM_000548.5(TSC2):c.4288T>C (p.Trp1430Arg)
|
rs1596417336
|
|
NM_000548.5(TSC2):c.4289G>C (p.Trp1430Ser)
|
|
|
NM_000548.5(TSC2):c.4290G>T (p.Trp1430Cys)
|
rs45517334
|
|
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp)
|
rs375785710
|
|
NM_000548.5(TSC2):c.4295C>T (p.Ala1432Val)
|
rs2151531391
|
|
NM_000548.5(TSC2):c.4298C>G (p.Ser1433Trp)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4300G>T (p.Gly1434Cys)
|
rs1555514295
|
|
NM_000548.5(TSC2):c.4304A>T (p.Glu1435Val)
|
|
|
NM_000548.5(TSC2):c.4306G>A (p.Asp1436Asn)
|
|
|
NM_000548.5(TSC2):c.4310G>T (p.Ser1437Ile)
|
|
|
NM_000548.5(TSC2):c.4315G>A (p.Gly1439Ser)
|
rs1313797378
|
|
NM_000548.5(TSC2):c.431A>C (p.Lys144Thr)
|
|
|
NM_000548.5(TSC2):c.431A>T (p.Lys144Met)
|
|
|
NM_000548.5(TSC2):c.4320G>T (p.Gln1440His)
|
|
|
NM_000548.5(TSC2):c.4322C>T (p.Pro1441Leu)
|
rs2090520912
|
|
NM_000548.5(TSC2):c.4324G>C (p.Glu1442Gln)
|
|
|
NM_000548.5(TSC2):c.4325A>C (p.Glu1442Ala)
|
|
|
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val)
|
rs1204349917
|
|
NM_000548.5(TSC2):c.4327G>A (p.Gly1443Ser)
|
rs1231519628
|
|
NM_000548.5(TSC2):c.4328G>T (p.Gly1443Val)
|
rs2090521873
|
|
NM_000548.5(TSC2):c.432G>C (p.Lys144Asn)
|
rs2085509615
|
|
NM_000548.5(TSC2):c.4330C>T (p.Pro1444Ser)
|
rs1459518095
|
|
NM_000548.5(TSC2):c.4334T>C (p.Leu1445Ser)
|
|
|
NM_000548.5(TSC2):c.4335G>C (p.Leu1445Phe)
|
|
|
NM_000548.5(TSC2):c.4335G>T (p.Leu1445Phe)
|
rs587778739
|
|
NM_000548.5(TSC2):c.4337C>T (p.Pro1446Leu)
|
rs2090523005
|
|
NM_000548.5(TSC2):c.433G>T (p.Ala145Ser)
|
|
|
NM_000548.5(TSC2):c.4340C>T (p.Ser1447Phe)
|
rs1218154295
|
|
NM_000548.5(TSC2):c.4342A>G (p.Ser1448Gly)
|
rs2090523420
|
|
NM_000548.5(TSC2):c.4347_4355del (p.Arg1451_Pro1453del)
|
rs781641545
|
|
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His)
|
rs45517338
|
|
NM_000548.5(TSC2):c.434C>G (p.Ala145Gly)
|
rs1596265255
|
|
NM_000548.5(TSC2):c.4352G>C (p.Arg1451Pro)
|
rs142848358
|
|
NM_000548.5(TSC2):c.4357C>T (p.Pro1453Ser)
|
|
|
NM_000548.5(TSC2):c.4358C>G (p.Pro1453Arg)
|
|
|
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly)
|
rs137854366
|
|
NM_000548.5(TSC2):c.4361G>A (p.Ser1454Asn)
|
rs758233186
|
|
NM_000548.5(TSC2):c.4362T>A (p.Ser1454Arg)
|
rs1320400029
|
|
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala)
|
rs1567524174
|
|
NM_000548.5(TSC2):c.4366C>T (p.Leu1456Phe)
|
rs1199848222
|
|
NM_000548.5(TSC2):c.436C>G (p.Leu146Val)
|
rs997604465
|
|
NM_000548.5(TSC2):c.436C>T (p.Leu146Phe)
|
rs997604465
|
|
NM_000548.5(TSC2):c.4370G>A (p.Arg1457Gln)
|
rs1060500952
|
|
NM_000548.5(TSC2):c.4376G>A (p.Arg1459Gln)
|
rs1555514409
|
|
NM_000548.5(TSC2):c.4376G>C (p.Arg1459Pro)
|
rs1555514409
|
|
NM_000548.5(TSC2):c.4378G>A (p.Gly1460Ser)
|
|
|
NM_000548.5(TSC2):c.4379G>T (p.Gly1460Val)
|
|
|
NM_000548.5(TSC2):c.437T>C (p.Leu146Pro)
|
|
|
NM_000548.5(TSC2):c.4384A>C (p.Thr1462Pro)
|
|
|
NM_000548.5(TSC2):c.4387A>G (p.Ile1463Val)
|
|
|
NM_000548.5(TSC2):c.4390T>A (p.Ser1464Thr)
|
|
|
NM_000548.5(TSC2):c.4390T>G (p.Ser1464Ala)
|
|
|
NM_000548.5(TSC2):c.4391C>G (p.Ser1464Cys)
|
rs1596418078
|
|
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn)
|
rs1425542648
|
|
NM_000548.5(TSC2):c.4393G>C (p.Asp1465His)
|
rs1425542648
|
|
NM_000548.5(TSC2):c.4393G>T (p.Asp1465Tyr)
|
|
|
NM_000548.5(TSC2):c.4394A>G (p.Asp1465Gly)
|
rs2151535102
|
|
NM_000548.5(TSC2):c.4395C>G (p.Asp1465Glu)
|
|
|
NM_000548.5(TSC2):c.4397C>G (p.Ser1466Trp)
|
|
|
NM_000548.5(TSC2):c.4399G>A (p.Ala1467Thr)
|
rs774980656
|
|
NM_000548.5(TSC2):c.439A>C (p.Thr147Pro)
|
|
|
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala)
|
rs1596265301
|
|
NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val)
|
rs2090531407
|
|
NM_000548.5(TSC2):c.4402C>G (p.Pro1468Ala)
|
rs1217359412
|
|
NM_000548.5(TSC2):c.4405T>G (p.Ser1469Ala)
|
rs907136617
|
|
NM_000548.5(TSC2):c.4409G>T (p.Arg1470Leu)
|
|
|
NM_000548.5(TSC2):c.440C>T (p.Thr147Ile)
|
rs1555497690
|
|
NM_000548.5(TSC2):c.4415G>T (p.Gly1472Val)
|
rs2090534118
|
|
NM_000548.5(TSC2):c.4417A>G (p.Lys1473Glu)
|
|
|
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys)
|
rs2090535225
|
|
NM_000548.5(TSC2):c.4422A>T (p.Arg1474Ser)
|
rs754169255
|
|
NM_000548.5(TSC2):c.4424_4426del (p.Val1475del)
|
|
|
NM_000548.5(TSC2):c.4426G>C (p.Glu1476Gln)
|
rs376946970
|
|
NM_000548.5(TSC2):c.4428G>C (p.Glu1476Asp)
|
rs765447466
|
|
NM_000548.5(TSC2):c.4429A>G (p.Arg1477Gly)
|
rs2090536576
|
|
NM_000548.5(TSC2):c.442G>C (p.Asp148His)
|
rs2151043628
|
|
NM_000548.5(TSC2):c.4430G>C (p.Arg1477Thr)
|
rs752693719
|
|
NM_000548.5(TSC2):c.4431G>C (p.Arg1477Ser)
|
rs76934857
|
|
NM_000548.5(TSC2):c.4433A>C (p.Asp1478Ala)
|
rs1596418447
|
|
NM_000548.5(TSC2):c.4433A>T (p.Asp1478Val)
|
rs1596418447
|
|
NM_000548.5(TSC2):c.4434C>A (p.Asp1478Glu)
|
|
|
NM_000548.5(TSC2):c.4436C>A (p.Ala1479Asp)
|
|
|
NM_000548.5(TSC2):c.4441A>G (p.Lys1481Glu)
|
rs1596418520
|
|
NM_000548.5(TSC2):c.4442A>G (p.Lys1481Arg)
|
rs2090538754
|
|
NM_000548.5(TSC2):c.4443G>C (p.Lys1481Asn)
|
rs2090538903
|
|
NM_000548.5(TSC2):c.4444A>T (p.Ser1482Cys)
|
|
|
NM_000548.5(TSC2):c.4446C>G (p.Ser1482Arg)
|
|
|
NM_000548.5(TSC2):c.4453A>C (p.Thr1485Pro)
|
rs1596418612
|
|
NM_000548.5(TSC2):c.445A>G (p.Asn149Asp)
|
rs878854107
|
|
NM_000548.5(TSC2):c.4460C>T (p.Ser1487Phe)
|
|
|
NM_000548.5(TSC2):c.4463A>C (p.Asn1488Thr)
|
rs999699219
|
|
NM_000548.5(TSC2):c.4464T>A (p.Asn1488Lys)
|
rs2090541614
|
|
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)
|
rs587778740
|
|
NM_000548.5(TSC2):c.4468G>A (p.Glu1490Lys)
|
rs2090542133
|
|
NM_000548.5(TSC2):c.4471A>C (p.Lys1491Gln)
|
|
|
NM_000548.5(TSC2):c.4471A>G (p.Lys1491Glu)
|
rs2090542726
|
|
NM_000548.5(TSC2):c.4472A>G (p.Lys1491Arg)
|
rs2090543060
|
|
NM_000548.5(TSC2):c.4473A>T (p.Lys1491Asn)
|
rs1266546987
|
|
NM_000548.5(TSC2):c.4477C>G (p.Pro1493Ala)
|
rs878854108
|
|
NM_000548.5(TSC2):c.4477C>T (p.Pro1493Ser)
|
rs878854108
|
|
NM_000548.5(TSC2):c.4478C>A (p.Pro1493Gln)
|
rs2090543900
|
|
NM_000548.5(TSC2):c.4478C>T (p.Pro1493Leu)
|
rs2090543900
|
|
NM_000548.5(TSC2):c.4481G>C (p.Gly1494Ala)
|
|
|
NM_000548.5(TSC2):c.4482C>T (p.Gly1494=)
|
|
|
NM_000548.5(TSC2):c.4484T>G (p.Ile1495Ser)
|
|
|
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.4486A>G (p.Asn1496Asp)
|
rs2090544468
|
|
NM_000548.5(TSC2):c.4487A>T (p.Asn1496Ile)
|
|
|
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser)
|
rs45517344
|
|
NM_000548.5(TSC2):c.448G>A (p.Gly150Arg)
|
|
|
NM_000548.5(TSC2):c.4490C>A (p.Pro1497His)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4492A>T (p.Ser1498Cys)
|
|
|
NM_000548.5(TSC2):c.4493+17C>A
|
rs45517345
|
|
NM_000548.5(TSC2):c.4493+3G>C
|
|
|
NM_000548.5(TSC2):c.4493+4G>C
|
|
|
NM_000548.5(TSC2):c.4493+5G>A
|
rs752851868
|
|
NM_000548.5(TSC2):c.4493+6C>T
|
rs1555514697
|
|
NM_000548.5(TSC2):c.4494-10C>G
|
rs753499012
|
|
NM_000548.5(TSC2):c.4494-17_4494-9del
|
|
|
NM_000548.5(TSC2):c.4494-3C>T
|
rs2151542933
|
|
NM_000548.5(TSC2):c.4495T>G (p.Phe1499Val)
|
rs2151543061
|
|
NM_000548.5(TSC2):c.4496T>C (p.Phe1499Ser)
|
rs1596422033
|
|
NM_000548.5(TSC2):c.4496T>G (p.Phe1499Cys)
|
rs1596422033
|
|
NM_000548.5(TSC2):c.4497C>G (p.Phe1499Leu)
|
rs372974007
|
|
NM_000548.5(TSC2):c.4498G>C (p.Val1500Leu)
|
|
|
NM_000548.5(TSC2):c.4499T>C (p.Val1500Ala)
|
rs45517347
|
|
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly)
|
rs45517347
|
|
NM_000548.5(TSC2):c.449G>A (p.Gly150Glu)
|
|
|
NM_000548.5(TSC2):c.4502T>C (p.Phe1501Ser)
|
rs2090578878
|
|
NM_000548.5(TSC2):c.4503C>G (p.Phe1501Leu)
|
|
|
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met)
|
rs928525608
|
|
NM_000548.5(TSC2):c.4507C>A (p.Gln1503Lys)
|
rs45517348
|
|
NM_000548.5(TSC2):c.4509G>C (p.Gln1503His)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4513T>C (p.Tyr1505His)
|
|
|
NM_000548.5(TSC2):c.4514A>G (p.Tyr1505Cys)
|
rs2090580905
|
|
NM_000548.5(TSC2):c.4516C>G (p.His1506Asp)
|
rs1173459869
|
|
NM_000548.5(TSC2):c.4517A>C (p.His1506Pro)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4517A>G (p.His1506Arg)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4517A>T (p.His1506Leu)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4519T>G (p.Ser1507Ala)
|
rs781736405
|
|
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4522C>T (p.Pro1508Ser)
|
rs2090582590
|
|
NM_000548.5(TSC2):c.4522_4524del (p.Pro1508del)
|
|
|
NM_000548.5(TSC2):c.4523C>G (p.Pro1508Arg)
|
|
|
NM_000548.5(TSC2):c.4523C>T (p.Pro1508Leu)
|
rs2151543885
|
|
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)
|
rs775919951
|
|
NM_000548.5(TSC2):c.4528T>A (p.Phe1510Ile)
|
rs2090583733
|
|
NM_000548.5(TSC2):c.4529T>A (p.Phe1510Tyr)
|
rs2090583886
|
|
NM_000548.5(TSC2):c.4530T>G (p.Phe1510Leu)
|
|
|
NM_000548.5(TSC2):c.4530_4531delinsAT (p.Phe1510_Gly1511delinsLeuCys)
|
rs2090584159
|
|
NM_000548.5(TSC2):c.4532G>A (p.Gly1511Asp)
|
rs2151544129
|
|
NM_000548.5(TSC2):c.4532G>T (p.Gly1511Val)
|
rs2151544129
|
|
NM_000548.5(TSC2):c.4535A>G (p.Asp1512Gly)
|
rs2090584497
|
|
NM_000548.5(TSC2):c.4536C>G (p.Asp1512Glu)
|
rs35986575
|
|
NM_000548.5(TSC2):c.4538A>G (p.Glu1513Gly)
|
rs1596422775
|
|
NM_000548.5(TSC2):c.453A>T (p.Arg151Ser)
|
rs2151043990
|
|
NM_000548.5(TSC2):c.4544A>G (p.Asn1515Ser)
|
rs2090586394
|
|
NM_000548.5(TSC2):c.4546A>G (p.Lys1516Glu)
|
rs1596422969
|
|
NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala)
|
rs1057522800
|
|
NM_000548.5(TSC2):c.4552A>T (p.Ile1518Phe)
|
|
|
NM_000548.5(TSC2):c.4554C>G (p.Ile1518Met)
|
rs1204199739
|
|
NM_000548.5(TSC2):c.4556T>C (p.Leu1519Pro)
|
rs1555514956
|
|
NM_000548.5(TSC2):c.4562C>G (p.Pro1521Arg)
|
rs1060500966
|
|
NM_000548.5(TSC2):c.4562C>T (p.Pro1521Leu)
|
rs1060500966
|
|
NM_000548.5(TSC2):c.4564A>G (p.Asn1522Asp)
|
rs2090589266
|
|
NM_000548.5(TSC2):c.4565A>C (p.Asn1522Thr)
|
rs144062721
|
|
NM_000548.5(TSC2):c.4565A>T (p.Asn1522Ile)
|
rs144062721
|
|
NM_000548.5(TSC2):c.4566T>G (p.Asn1522Lys)
|
|
|
NM_000548.5(TSC2):c.4567G>A (p.Glu1523Lys)
|
rs2090589588
|
|
NM_000548.5(TSC2):c.4568A>C (p.Glu1523Ala)
|
rs777406873
|
|
NM_000548.5(TSC2):c.4569+3A>G
|
rs2090590453
|
|
NM_000548.5(TSC2):c.4569G>A (p.Glu1523=)
|
rs945456651
|
|
NM_000548.5(TSC2):c.4570-10T>G
|
rs2151549277
|
|
NM_000548.5(TSC2):c.4570-21_4570-11dup
|
rs137854040
|
|
NM_000548.5(TSC2):c.4570-2A>G
|
rs2151549641
|
|
NM_000548.5(TSC2):c.4570-3_4570-2del
|
rs2090619495
|
|
NM_000548.5(TSC2):c.4570-5del
|
rs1596426242
|
|
NM_000548.5(TSC2):c.4570-6C>A
|
rs2151549406
|
|
NM_000548.5(TSC2):c.4571C>T (p.Ser1524Leu)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4574A>G (p.Gln1525Arg)
|
rs1596426462
|
|
NM_000548.5(TSC2):c.4577C>G (p.Ser1526Cys)
|
|
|
NM_000548.5(TSC2):c.4579T>G (p.Phe1527Val)
|
rs45514391
|
|
NM_000548.5(TSC2):c.4580T>C (p.Phe1527Ser)
|
rs2151550358
|
|
NM_000548.5(TSC2):c.4581T>A (p.Phe1527Leu)
|
rs745860116
|
|
NM_000548.5(TSC2):c.4581T>G (p.Phe1527Leu)
|
|
|
NM_000548.5(TSC2):c.4582G>C (p.Glu1528Gln)
|
rs2090622255
|
|
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4586G>T (p.Arg1529Leu)
|
rs769834772
|
|
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu)
|
rs1567528487
|
|
NM_000548.5(TSC2):c.4591G>C (p.Val1531Leu)
|
|
|
NM_000548.5(TSC2):c.4591G>T (p.Val1531Leu)
|
|
|
NM_000548.5(TSC2):c.4592T>C (p.Val1531Ala)
|
rs2090623543
|
|
NM_000548.5(TSC2):c.4597C>T (p.Leu1533Phe)
|
rs1567528528
|
|
NM_000548.5(TSC2):c.4597CTC[1] (p.Leu1534del)
|
|
|
NM_000548.5(TSC2):c.459C>G (p.Ile153Met)
|
|
|
NM_000548.5(TSC2):c.45_53del (p.Phe15_Ile17del)
|
rs2150970951
|
|
NM_000548.5(TSC2):c.4600C>G (p.Leu1534Val)
|
rs375520841
|
|
NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr)
|
rs45517353
|
|
NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val)
|
rs397515160
|
|
NM_000548.5(TSC2):c.4605C>A (p.Asp1535Glu)
|
rs1555515283
|
|
NM_000548.5(TSC2):c.4607A>G (p.Gln1536Arg)
|
rs2151551661
|
|
NM_000548.5(TSC2):c.4609_4662dup (p.Ile1537_Gln1554dup)
|
rs2151551613
|
|
NM_000548.5(TSC2):c.4610T>G (p.Ile1537Ser)
|
rs760056622
|
|
NM_000548.5(TSC2):c.4612C>G (p.Pro1538Ala)
|
rs1060500930
|
|
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser)
|
rs1060500930
|
|
NM_000548.5(TSC2):c.461C>G (p.Thr154Ser)
|
|
|
NM_000548.5(TSC2):c.461C>T (p.Thr154Ile)
|
rs1215092245
|
|
NM_000548.5(TSC2):c.4622A>G (p.Asp1541Gly)
|
|
|
NM_000548.5(TSC2):c.4624A>G (p.Thr1542Ala)
|
|
|
NM_000548.5(TSC2):c.4625C>A (p.Thr1542Asn)
|
rs2090628070
|
|
NM_000548.5(TSC2):c.4625C>G (p.Thr1542Ser)
|
rs2090628070
|
|
NM_000548.5(TSC2):c.4625C>T (p.Thr1542Ile)
|
rs2090628070
|
|
NM_000548.5(TSC2):c.4627C>T (p.His1543Tyr)
|
rs1567528890
|
|
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
|
rs2090628516
|
|
NM_000548.5(TSC2):c.4631A>C (p.Lys1544Thr)
|
|
|
NM_000548.5(TSC2):c.4631A>G (p.Lys1544Arg)
|
rs2090629229
|
|
NM_000548.5(TSC2):c.4632G>C (p.Lys1544Asn)
|
|
|
NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met)
|
rs757388437
|
|
NM_000548.5(TSC2):c.4636G>T (p.Ala1546Ser)
|
rs1332979299
|
|
NM_000548.5(TSC2):c.4637_4660del (p.Ala1546_Gln1554delinsGlu)
|
rs2090630615
|
|
NM_000548.5(TSC2):c.4648G>A (p.Val1550Ile)
|
|
|
NM_000548.5(TSC2):c.4648G>T (p.Val1550Phe)
|
rs2090633103
|
|
NM_000548.5(TSC2):c.4649T>A (p.Val1550Asp)
|
rs2151553395
|
|
NM_000548.5(TSC2):c.464_466del (p.Tyr155del)
|
rs2085513777
|
|
NM_000548.5(TSC2):c.4652G>A (p.Gly1551Glu)
|
|
|
NM_000548.5(TSC2):c.4655A>G (p.Glu1552Gly)
|
rs2151553694
|
|
NM_000548.5(TSC2):c.4657G>A (p.Gly1553Ser)
|
|
|
NM_000548.5(TSC2):c.4658G>A (p.Gly1553Asp)
|
rs2090634038
|
|
NM_000548.5(TSC2):c.4658G>T (p.Gly1553Val)
|
|
|
NM_000548.5(TSC2):c.4659C>T (p.Gly1553=)
|
rs202212109
|
|
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro)
|
rs45473296
|
|
NM_000548.5(TSC2):c.4662+4A>C
|
|
|
NM_000548.5(TSC2):c.4662+5G>A
|
rs2090635893
|
|
NM_000548.5(TSC2):c.4662+7C>G
|
rs1555515435
|
|
NM_000548.5(TSC2):c.4663-7_4663-6delinsTT
|
|
|
NM_000548.5(TSC2):c.4663A>G (p.Ser1555Gly)
|
rs1555515982
|
|
NM_000548.5(TSC2):c.4663A>T (p.Ser1555Cys)
|
rs1555515982
|
|
NM_000548.5(TSC2):c.4664G>A (p.Ser1555Asn)
|
rs1354678802
|
|
NM_000548.5(TSC2):c.4666A>T (p.Asn1556Tyr)
|
rs2151569260
|
|
NM_000548.5(TSC2):c.4667A>G (p.Asn1556Ser)
|
rs1567532307
|
|
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg)
|
rs151140709
|
|
NM_000548.5(TSC2):c.4675C>G (p.Leu1559Val)
|
rs1327797297
|
|
NM_000548.5(TSC2):c.4675C>T (p.Leu1559Phe)
|
rs1327797297
|
|
NM_000548.5(TSC2):c.4678G>T (p.Ala1560Ser)
|
rs777539610
|
|
NM_000548.5(TSC2):c.4679C>T (p.Ala1560Val)
|
rs2090766850
|
|
NM_000548.5(TSC2):c.467T>G (p.Leu156Trp)
|
|
|
NM_000548.5(TSC2):c.4681A>T (p.Ile1561Phe)
|
rs2090767182
|
|
NM_000548.5(TSC2):c.4684C>A (p.Leu1562Met)
|
rs1057523304
|
|
NM_000548.5(TSC2):c.4685T>A (p.Leu1562Gln)
|
|
|
NM_000548.5(TSC2):c.4688C>T (p.Ser1563Phe)
|
|
|
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser)
|
rs876659806
|
|
NM_000548.5(TSC2):c.4695G>C (p.Glu1565Asp)
|
rs762372483
|
|
NM_000548.5(TSC2):c.4695G>T (p.Glu1565Asp)
|
rs762372483
|
|
NM_000548.5(TSC2):c.4696C>G (p.His1566Asp)
|
rs1596438391
|
|
NM_000548.5(TSC2):c.4696C>T (p.His1566Tyr)
|
rs1596438391
|
|
NM_000548.5(TSC2):c.4699G>C (p.Gly1567Arg)
|
|
|
NM_000548.5(TSC2):c.4700G>C (p.Gly1567Ala)
|
|
|
NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys)
|
rs1555516036
|
|
NM_000548.5(TSC2):c.4703C>T (p.Ser1568Phe)
|
|
|
NM_000548.5(TSC2):c.4705T>C (p.Tyr1569His)
|
rs1567532712
|
|
NM_000548.5(TSC2):c.4706A>G (p.Tyr1569Cys)
|
rs2090771064
|
|
NM_000548.5(TSC2):c.4708A>G (p.Arg1570Gly)
|
rs45517365
|
|
NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)
|
rs397514980
|
|
NM_000548.5(TSC2):c.470A>G (p.Glu157Gly)
|
rs2085514800
|
|
NM_000548.5(TSC2):c.4710G>T (p.Arg1570Ser)
|
rs1389060581
|
|
NM_000548.5(TSC2):c.4714A>C (p.Thr1572Pro)
|
|
|
NM_000548.5(TSC2):c.4717G>C (p.Glu1573Gln)
|
rs2090773157
|
|
NM_000548.5(TSC2):c.4718A>G (p.Glu1573Gly)
|
rs1567532847
|
|
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser)
|
rs796053499
|
|
NM_000548.5(TSC2):c.472G>A (p.Glu158Lys)
|
rs1596265482
|
|
NM_000548.5(TSC2):c.4730G>T (p.Gly1577Val)
|
rs2151571979
|
|
NM_000548.5(TSC2):c.4732C>G (p.Leu1578Val)
|
rs917807471
|
|
NM_000548.5(TSC2):c.4736G>A (p.Gly1579Asp)
|
rs397515222
|
|
NM_000548.5(TSC2):c.473A>G (p.Glu158Gly)
|
rs2085515389
|
|
NM_000548.5(TSC2):c.4741C>A (p.Leu1581Ile)
|
|
|
NM_000548.5(TSC2):c.4741C>T (p.Leu1581Phe)
|
rs2151572466
|
|
NM_000548.5(TSC2):c.4742T>G (p.Leu1581Arg)
|
rs2151572499
|
|
NM_000548.5(TSC2):c.4745T>C (p.Ile1582Thr)
|
rs2151572644
|
|
NM_000548.5(TSC2):c.4746C>G (p.Ile1582Met)
|
rs751305758
|
|
NM_000548.5(TSC2):c.4747G>C (p.Glu1583Gln)
|
|
|
NM_000548.5(TSC2):c.4748A>T (p.Glu1583Val)
|
rs1596439004
|
|
NM_000548.5(TSC2):c.4750C>A (p.Leu1584Met)
|
|
|
NM_000548.5(TSC2):c.4751T>C (p.Leu1584Pro)
|
rs137854203
|
|
NM_000548.5(TSC2):c.4753A>G (p.Lys1585Glu)
|
|
|
NM_000548.5(TSC2):c.4755G>T (p.Lys1585Asn)
|
rs2090778953
|
|
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu)
|
rs1366814192
|
|
NM_000548.5(TSC2):c.4760G>A (p.Cys1587Tyr)
|
rs2090779491
|
|
NM_000548.5(TSC2):c.4764G>C (p.Gln1588His)
|
rs876659800
|
|
NM_000548.5(TSC2):c.4768G>T (p.Asp1590Tyr)
|
rs2090780462
|
|
NM_000548.5(TSC2):c.4769A>C (p.Asp1590Ala)
|
|
|
NM_000548.5(TSC2):c.4769A>T (p.Asp1590Val)
|
rs2090780608
|
|
NM_000548.5(TSC2):c.476A>G (p.Glu159Gly)
|
|
|
NM_000548.5(TSC2):c.476A>T (p.Glu159Val)
|
rs1555497716
|
|
NM_000548.5(TSC2):c.4770C>A (p.Asp1590Glu)
|
|
|
NM_000548.5(TSC2):c.4770C>G (p.Asp1590Glu)
|
|
|
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg)
|
rs1596439144
|
|
NM_000548.5(TSC2):c.4774G>A (p.Val1592Met)
|
|
|
NM_000548.5(TSC2):c.4775T>C (p.Val1592Ala)
|
|
|
NM_000548.5(TSC2):c.4786_4788dup (p.Gly1596dup)
|
rs2090782530
|
|
NM_000548.5(TSC2):c.4787G>A (p.Gly1596Asp)
|
rs397515014
|
|
NM_000548.5(TSC2):c.4787G>C (p.Gly1596Ala)
|
rs397515014
|
|
NM_000548.5(TSC2):c.4793A>T (p.Asp1598Val)
|
rs2151574689
|
|
NM_000548.5(TSC2):c.4794C>A (p.Asp1598Glu)
|
|
|
NM_000548.5(TSC2):c.4794C>G (p.Asp1598Glu)
|
rs548102930
|
|
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu)
|
rs772687631
|
|
NM_000548.5(TSC2):c.4795G>T (p.Val1599Leu)
|
|
|
NM_000548.5(TSC2):c.4796T>C (p.Val1599Ala)
|
|
|
NM_000548.5(TSC2):c.4799G>T (p.Cys1600Phe)
|
rs1596439356
|
|
NM_000548.5(TSC2):c.479T>A (p.Leu160Gln)
|
rs1555497725
|
|
NM_000548.5(TSC2):c.479T>C (p.Leu160Pro)
|
|
|
NM_000548.5(TSC2):c.479T>G (p.Leu160Arg)
|
rs1555497725
|
|
NM_000548.5(TSC2):c.4802G>C (p.Gly1601Ala)
|
|
|
NM_000548.5(TSC2):c.4804G>A (p.Glu1602Lys)
|
rs2151575081
|
|
NM_000548.5(TSC2):c.4806G>T (p.Glu1602Asp)
|
rs1177233720
|
|
NM_000548.5(TSC2):c.481+3G>C
|
|
|
NM_000548.5(TSC2):c.481+4G>A
|
|
|
NM_000548.5(TSC2):c.4814A>C (p.Gln1605Pro)
|
rs1001010265
|
|
NM_000548.5(TSC2):c.4816T>G (p.Phe1606Val)
|
rs2090786390
|
|
NM_000548.5(TSC2):c.482-14C>A
|
rs757054946
|
|
NM_000548.5(TSC2):c.482-4_482-3delinsGT
|
rs2085650597
|
|
NM_000548.5(TSC2):c.482-5C>G
|
rs397515071
|
|
NM_000548.5(TSC2):c.482-6C>A
|
|
|
NM_000548.5(TSC2):c.482-6C>G
|
|
|
NM_000548.5(TSC2):c.482-7C>A
|
rs2085648892
|
|
NM_000548.5(TSC2):c.482-7C>G
|
rs2085648892
|
|
NM_000548.5(TSC2):c.482-9C>A
|
|
|
NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)
|
rs878854111
|
|
NM_000548.5(TSC2):c.4826G>T (p.Cys1609Phe)
|
rs1233744012
|
|
NM_000548.5(TSC2):c.4828T>G (p.Trp1610Gly)
|
rs397514966
|
|
NM_000548.5(TSC2):c.482C>G (p.Ala161Gly)
|
rs45481496
|
|
NM_000548.5(TSC2):c.482C>T (p.Ala161Val)
|
rs45481496
|
|
NM_000548.5(TSC2):c.4831C>T (p.His1611Tyr)
|
rs1596439600
|
|
NM_000548.5(TSC2):c.4832A>T (p.His1611Leu)
|
|
|
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr)
|
rs886051795
|
|
NM_000548.5(TSC2):c.4840A>G (p.Ile1614Val)
|
|
|
NM_000548.5(TSC2):c.4841T>G (p.Ile1614Ser)
|
rs2090789775
|
|
NM_000548.5(TSC2):c.4844T>G (p.Met1615Arg)
|
rs2090790157
|
|
NM_000548.5(TSC2):c.4847A>G (p.Gln1616Arg)
|
rs1555516313
|
|
NM_000548.5(TSC2):c.4848A>C (p.Gln1616His)
|
rs762819541
|
|
NM_000548.5(TSC2):c.4848A>T (p.Gln1616His)
|
rs762819541
|
|
NM_000548.5(TSC2):c.4849+3A>G
|
rs1057521378
|
|
NM_000548.5(TSC2):c.4849+4C>A
|
rs370426490
|
|
NM_000548.5(TSC2):c.4849+4C>G
|
|
|
NM_000548.5(TSC2):c.4849+5_4849+32del
|
|
|
NM_000548.5(TSC2):c.4849+6G>T
|
|
|
NM_000548.5(TSC2):c.4849+6_4849+27del
|
rs1596439736
|
|
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr)
|
rs2090791005
|
|
NM_000548.5(TSC2):c.4850-11C>T
|
|
|
NM_000548.5(TSC2):c.4850-19C>A
|
|
|
NM_000548.5(TSC2):c.4850C>A (p.Ala1617Asp)
|
|
|
NM_000548.5(TSC2):c.4850C>T (p.Ala1617Val)
|
rs1412545821
|
|
NM_000548.5(TSC2):c.4852G>C (p.Val1618Leu)
|
|
|
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4861A>T (p.Ile1621Phe)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4863C>A (p.Ile1621=)
|
|
|
NM_000548.5(TSC2):c.4867A>G (p.Thr1623Ala)
|
rs749501410
|
|
NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr)
|
rs2090852831
|
|
NM_000548.5(TSC2):c.4876C>T (p.Pro1626Ser)
|
rs2090852831
|
|
NM_000548.5(TSC2):c.4877C>T (p.Pro1626Leu)
|
|
|
NM_000548.5(TSC2):c.487T>A (p.Phe163Ile)
|
|
|
NM_000548.5(TSC2):c.4880C>A (p.Thr1627Asn)
|
rs1555438434
|
|
NM_000548.5(TSC2):c.4884G>A (p.Lys1628=)
|
rs2090853639
|
|
NM_000548.5(TSC2):c.4887C>G (p.Asp1629Glu)
|
rs137854152
|
|
NM_000548.5(TSC2):c.4888G>C (p.Val1630Leu)
|
rs886051796
|
|
NM_000548.5(TSC2):c.4889T>G (p.Val1630Gly)
|
|
|
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser)
|
rs1596270677
|
|
NM_000548.5(TSC2):c.4891G>T (p.Asp1631Tyr)
|
rs2090855331
|
|
NM_000548.5(TSC2):c.4894A>G (p.Lys1632Glu)
|
rs2090855880
|
|
NM_000548.5(TSC2):c.4896G>C (p.Lys1632Asn)
|
rs1555438475
|
|
NM_000548.5(TSC2):c.4896G>T (p.Lys1632Asn)
|
|
|
NM_000548.5(TSC2):c.4897C>T (p.His1633Tyr)
|
|
|
NM_000548.5(TSC2):c.48G>C (p.Lys16Asn)
|
rs2084674938
|
|
NM_000548.5(TSC2):c.4900C>G (p.Arg1634Gly)
|
|
|
NM_000548.5(TSC2):c.4904G>A (p.Cys1635Tyr)
|
rs1555438494
|
|
NM_000548.5(TSC2):c.4906G>C (p.Asp1636His)
|
|
|
NM_000548.5(TSC2):c.4908C>A (p.Asp1636Glu)
|
|
|
NM_000548.5(TSC2):c.4909A>G (p.Lys1637Glu)
|
rs1596443444
|
|
NM_000548.5(TSC2):c.4914G>T (p.Lys1638Asn)
|
rs137854094
|
|
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His)
|
rs137854153
|
|
NM_000548.5(TSC2):c.4920C>A (p.His1640Gln)
|
rs1555438576
|
|
NM_000548.5(TSC2):c.4921C>G (p.Leu1641Val)
|
|
|
NM_000548.5(TSC2):c.4925G>C (p.Gly1642Ala)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4927A>G (p.Asn1643Asp)
|
|
|
NM_000548.5(TSC2):c.4933T>C (p.Phe1645Leu)
|
rs1596443758
|
|
NM_000548.5(TSC2):c.4940C>G (p.Ser1647Cys)
|
rs2090863579
|
|
NM_000548.5(TSC2):c.4940C>T (p.Ser1647Phe)
|
rs2090863579
|
|
NM_000548.5(TSC2):c.4942A>C (p.Ile1648Leu)
|
rs749554579
|
|
NM_000548.5(TSC2):c.4949A>C (p.Tyr1650Ser)
|
|
|
NM_000548.5(TSC2):c.4949A>T (p.Tyr1650Phe)
|
rs45501091
|
|
NM_000548.5(TSC2):c.4951A>G (p.Asn1651Asp)
|
rs2090865014
|
|
NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe)
|
rs45517383
|
|
NM_000548.5(TSC2):c.4959C>A (p.Ser1653=)
|
rs45517384
|
|
NM_000548.5(TSC2):c.4960G>C (p.Gly1654Arg)
|
|
|
NM_000548.5(TSC2):c.4960G>T (p.Gly1654Cys)
|
rs771911660
|
|
NM_000548.5(TSC2):c.4961G>A (p.Gly1654Asp)
|
|
|
NM_000548.5(TSC2):c.4967A>G (p.Asp1656Gly)
|
rs1567124767
|
|
NM_000548.5(TSC2):c.4967A>T (p.Asp1656Val)
|
|
|
NM_000548.5(TSC2):c.496C>A (p.Gln166Lys)
|
|
|
NM_000548.5(TSC2):c.4972A>C (p.Lys1658Gln)
|
rs2090867792
|
|
NM_000548.5(TSC2):c.4972A>G (p.Lys1658Glu)
|
rs2090867792
|
|
NM_000548.5(TSC2):c.4974G>C (p.Lys1658Asn)
|
rs45511393
|
|
NM_000548.5(TSC2):c.4976T>G (p.Leu1659Arg)
|
rs2090868646
|
|
NM_000548.5(TSC2):c.4979G>C (p.Gly1660Ala)
|
rs1189857262
|
|
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val)
|
rs1189857262
|
|
NM_000548.5(TSC2):c.4984A>G (p.Ile1662Val)
|
rs2151589566
|
|
NM_000548.5(TSC2):c.4985T>C (p.Ile1662Thr)
|
rs2151589598
|
|
NM_000548.5(TSC2):c.4988A>C (p.Lys1663Thr)
|
|
|
NM_000548.5(TSC2):c.4989+5G>C
|
|
|
NM_000548.5(TSC2):c.4989+6T>C
|
|
|
NM_000548.5(TSC2):c.4989+6_4989+9del
|
rs1262967003
|
|
NM_000548.5(TSC2):c.4989+6dup
|
rs2151590002
|
|
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=)
|
rs1567124948
|
|
NM_000548.5(TSC2):c.4989G>C (p.Lys1663Asn)
|
rs1567124948
|
|
NM_000548.5(TSC2):c.498G>A (p.Gln166=)
|
|
|
NM_000548.5(TSC2):c.4990-9T>A
|
rs1596454615
|
|
NM_000548.5(TSC2):c.4990G>T (p.Gly1664Cys)
|
|
|
NM_000548.5(TSC2):c.4991G>A (p.Gly1664Asp)
|
rs2091044912
|
|
NM_000548.5(TSC2):c.4991_5020del (p.Gly1664_Thr1674delinsAla)
|
rs1555439653
|
|
NM_000548.5(TSC2):c.4995G>C (p.Gln1665His)
|
rs2091045745
|
|
NM_000548.5(TSC2):c.4995G>T (p.Gln1665His)
|
|
|
NM_000548.5(TSC2):c.4997T>C (p.Phe1666Ser)
|
rs1596454907
|
|
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp)
|
rs1182240785
|
|
NM_000548.5(TSC2):c.49A>G (p.Ile17Val)
|
rs1274194851
|
|
NM_000548.5(TSC2):c.49A>T (p.Ile17Phe)
|
|
|
NM_000548.5(TSC2):c.4G>A (p.Ala2Thr)
|
|
|
NM_000548.5(TSC2):c.5001C>G (p.Asn1667Lys)
|
rs551938797
|
|
NM_000548.5(TSC2):c.5003T>C (p.Phe1668Ser)
|
rs1555439678
|
|
NM_000548.5(TSC2):c.5004T>A (p.Phe1668Leu)
|
|
|
NM_000548.5(TSC2):c.5004T>G (p.Phe1668Leu)
|
rs745787082
|
|
NM_000548.5(TSC2):c.5005G>A (p.Val1669Ile)
|
rs2091047035
|
|
NM_000548.5(TSC2):c.5008C>A (p.His1670Asn)
|
|
|
NM_000548.5(TSC2):c.5008C>G (p.His1670Asp)
|
rs1596454994
|
|
NM_000548.5(TSC2):c.5010C>A (p.His1670Gln)
|
rs376306544
|
|
NM_000548.5(TSC2):c.5010C>G (p.His1670Gln)
|
|
|
NM_000548.5(TSC2):c.5011G>C (p.Val1671Leu)
|
rs775395648
|
|
NM_000548.5(TSC2):c.5013_5018del (p.Ile1672_Val1673del)
|
|
|
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5017_5068+19dup
|
rs2151612248
|
|
NM_000548.5(TSC2):c.5021C>G (p.Thr1674Ser)
|
rs1555439727
|
|
NM_000548.5(TSC2):c.502A>C (p.Met168Leu)
|
rs779566253
|
|
NM_000548.5(TSC2):c.502A>T (p.Met168Leu)
|
|
|
NM_000548.5(TSC2):c.5031C>G (p.Asp1677Glu)
|
|
|
NM_000548.5(TSC2):c.5032_5034dup (p.Tyr1678dup)
|
rs2091052317
|
|
NM_000548.5(TSC2):c.5038T>A (p.Cys1680Ser)
|
rs1555439802
|
|
NM_000548.5(TSC2):c.503T>C (p.Met168Thr)
|
rs1555498124
|
|
NM_000548.5(TSC2):c.5044C>A (p.Leu1682Met)
|
|
|
NM_000548.5(TSC2):c.5044C>G (p.Leu1682Val)
|
rs1336904838
|
|
NM_000548.5(TSC2):c.5045T>A (p.Leu1682Gln)
|
rs2091055727
|
|
NM_000548.5(TSC2):c.5045T>G (p.Leu1682Arg)
|
rs2091055727
|
|
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu)
|
rs1596455392
|
|
NM_000548.5(TSC2):c.504G>A (p.Met168Ile)
|
|
|
NM_000548.5(TSC2):c.5050T>A (p.Ser1684Thr)
|
|
|
NM_000548.5(TSC2):c.5051C>T (p.Ser1684Phe)
|
rs2151613906
|
|
NM_000548.5(TSC2):c.5057A>G (p.Gln1686Arg)
|
rs397514983
|
|
NM_000548.5(TSC2):c.5058G>C (p.Gln1686His)
|
rs200700923
|
|
NM_000548.5(TSC2):c.5058G>T (p.Gln1686His)
|
rs200700923
|
|
NM_000548.5(TSC2):c.5059T>A (p.Cys1687Ser)
|
rs184892282
|
|
NM_000548.5(TSC2):c.505G>A (p.Asp169Asn)
|
rs2085657148
|
|
NM_000548.5(TSC2):c.5060G>A (p.Cys1687Tyr)
|
rs2091058156
|
|
NM_000548.5(TSC2):c.5062A>G (p.Arg1688Gly)
|
|
|
NM_000548.5(TSC2):c.5064G>C (p.Arg1688Ser)
|
rs374476631
|
|
NM_000548.5(TSC2):c.5064G>T (p.Arg1688Ser)
|
rs374476631
|
|
NM_000548.5(TSC2):c.5066A>G (p.Lys1689Arg)
|
|
|
NM_000548.5(TSC2):c.5068+13_5068+36dup
|
|
|
NM_000548.5(TSC2):c.5068+19_5068+42dup
|
rs1567128747
|
|
NM_000548.5(TSC2):c.5068+4G>C
|
rs1420928521
|
|
NM_000548.5(TSC2):c.5068+6G>A
|
rs2091060639
|
|
NM_000548.5(TSC2):c.5068+6G>C
|
|
|
NM_000548.5(TSC2):c.5068+8_5068+9insAGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCC
|
|
|
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5069-3C>T
|
rs2091085832
|
|
NM_000548.5(TSC2):c.5069-6C>G
|
rs1212112210
|
|
NM_000548.5(TSC2):c.5069A>C (p.Asp1690Ala)
|
rs2091086775
|
|
NM_000548.5(TSC2):c.506A>C (p.Asp169Ala)
|
|
|
NM_000548.5(TSC2):c.5070C>A (p.Asp1690Glu)
|
rs1596457380
|
|
NM_000548.5(TSC2):c.5070C>G (p.Asp1690Glu)
|
|
|
NM_000548.5(TSC2):c.5073G>A (p.Met1691Ile)
|
rs2091087331
|
|
NM_000548.5(TSC2):c.5073_5074delinsTC (p.Met1691_Glu1692delinsIleGln)
|
rs2151619691
|
|
NM_000548.5(TSC2):c.5075A>G (p.Glu1692Gly)
|
rs984930044
|
|
NM_000548.5(TSC2):c.5075_5077del (p.Glu1692del)
|
rs2151619736
|
|
NM_000548.5(TSC2):c.5077G>A (p.Gly1693Ser)
|
rs2091088245
|
|
NM_000548.5(TSC2):c.5078G>A (p.Gly1693Asp)
|
|
|
NM_000548.5(TSC2):c.5083G>A (p.Val1695Met)
|
|
|
NM_000548.5(TSC2):c.5084T>C (p.Val1695Ala)
|
|
|
NM_000548.5(TSC2):c.5084_5086del (p.Val1695del)
|
|
|
NM_000548.5(TSC2):c.5086G>A (p.Asp1696Asn)
|
rs1555440048
|
|
NM_000548.5(TSC2):c.5089A>G (p.Thr1697Ala)
|
rs2151620482
|
|
NM_000548.5(TSC2):c.508G>A (p.Val170Ile)
|
rs1596270815
|
|
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
|
|
|
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr)
|
rs1267700080
|
|
NM_000548.5(TSC2):c.5099C>T (p.Ala1700Val)
|
rs2151620769
|
|
NM_000548.5(TSC2):c.509T>C (p.Val170Ala)
|
rs2085658266
|
|
NM_000548.5(TSC2):c.50T>G (p.Ile17Ser)
|
|
|
NM_000548.5(TSC2):c.5101A>C (p.Lys1701Gln)
|
|
|
NM_000548.5(TSC2):c.5101A>G (p.Lys1701Glu)
|
rs2151620842
|
|
NM_000548.5(TSC2):c.5102A>G (p.Lys1701Arg)
|
|
|
NM_000548.5(TSC2):c.5103G>C (p.Lys1701Asn)
|
|
|
NM_000548.5(TSC2):c.5106C>G (p.Ile1702Met)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5107G>C (p.Val1703Leu)
|
|
|
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala)
|
rs45498401
|
|
NM_000548.5(TSC2):c.5110T>C (p.Ser1704Pro)
|
rs45474691
|
|
NM_000548.5(TSC2):c.5115C>A (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5116C>A (p.Arg1706Ser)
|
|
|
NM_000548.5(TSC2):c.5116C>G (p.Arg1706Gly)
|
rs45517391
|
|
NM_000548.5(TSC2):c.5117G>T (p.Arg1706Leu)
|
rs45517392
|
|
NM_000548.5(TSC2):c.5117_5122del (p.Arg1706_Asn1707del)
|
rs2151621544
|
|
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His)
|
rs1300582033
|
|
NM_000548.5(TSC2):c.5121C>G (p.Asn1707Lys)
|
rs2151621840
|
|
NM_000548.5(TSC2):c.5122C>G (p.Leu1708Val)
|
rs1168265181
|
|
NM_000548.5(TSC2):c.5125C>A (p.Pro1709Thr)
|
|
|
NM_000548.5(TSC2):c.5125C>T (p.Pro1709Ser)
|
rs2091094853
|
|
NM_000548.5(TSC2):c.5128_5130del (p.Phe1710del)
|
|
|
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp)
|
rs983899092
|
|
NM_000548.5(TSC2):c.512G>T (p.Gly171Val)
|
|
|
NM_000548.5(TSC2):c.5130C>G (p.Phe1710Leu)
|
|
|
NM_000548.5(TSC2):c.5134G>A (p.Ala1712Thr)
|
rs1596457926
|
|
NM_000548.5(TSC2):c.5137C>A (p.Arg1713Ser)
|
rs759420443
|
|
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
|
|
|
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val)
|
rs397514974
|
|
NM_000548.5(TSC2):c.5144T>A (p.Met1715Lys)
|
rs758246234
|
|
NM_000548.5(TSC2):c.5145G>A (p.Met1715Ile)
|
|
|
NM_000548.5(TSC2):c.5147C>T (p.Ala1716Val)
|
rs1420725409
|
|
NM_000548.5(TSC2):c.5149C>G (p.Leu1717Val)
|
rs1555440199
|
|
NM_000548.5(TSC2):c.5150T>G (p.Leu1717Arg)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5152C>G (p.His1718Asp)
|
rs1567130289
|
|
NM_000548.5(TSC2):c.5152C>T (p.His1718Tyr)
|
rs1567130289
|
|
NM_000548.5(TSC2):c.5153A>G (p.His1718Arg)
|
|
|
NM_000548.5(TSC2):c.5156C>A (p.Ala1719Glu)
|
|
|
NM_000548.5(TSC2):c.5156C>G (p.Ala1719Gly)
|
rs2091100543
|
|
NM_000548.5(TSC2):c.5158A>C (p.Asn1720His)
|
|
|
NM_000548.5(TSC2):c.5158A>G (p.Asn1720Asp)
|
rs1555440225
|
|
NM_000548.5(TSC2):c.5160+3G>A
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+3G>C
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+5G>A
|
rs45515392
|
|
NM_000548.5(TSC2):c.5160+5del
|
rs2091103854
|
|
NM_000548.5(TSC2):c.5160+6T>A
|
rs1567130441
|
|
NM_000548.5(TSC2):c.5160+6T>G
|
rs1567130441
|
|
NM_000548.5(TSC2):c.5160T>A (p.Asn1720Lys)
|
rs137854883
|
|
NM_000548.5(TSC2):c.5161-3C>T
|
rs1410204953
|
|
NM_000548.5(TSC2):c.5161-9C>A
|
rs45515893
|
|
NM_000548.5(TSC2):c.5163G>A (p.Met1721Ile)
|
|
|
NM_000548.5(TSC2):c.5164G>A (p.Ala1722Thr)
|
rs397515270
|
|
NM_000548.5(TSC2):c.5164G>T (p.Ala1722Ser)
|
rs397515270
|
|
NM_000548.5(TSC2):c.516G>C (p.Leu172Phe)
|
|
|
NM_000548.5(TSC2):c.5170C>A (p.Gln1724Lys)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5170C>G (p.Gln1724Glu)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5171A>G (p.Gln1724Arg)
|
rs923367492
|
|
NM_000548.5(TSC2):c.5172G>T (p.Gln1724His)
|
rs774044431
|
|
NM_000548.5(TSC2):c.5173G>T (p.Val1725Leu)
|
|
|
NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)
|
|
|
NM_000548.5(TSC2):c.5176C>G (p.His1726Asp)
|
rs761618860
|
|
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro)
|
rs1555440475
|
|
NM_000548.5(TSC2):c.517T>G (p.Ser173Ala)
|
rs2151059325
|
|
NM_000548.5(TSC2):c.5180A>G (p.His1727Arg)
|
rs1596460080
|
|
NM_000548.5(TSC2):c.5180A>T (p.His1727Leu)
|
rs1596460080
|
|
NM_000548.5(TSC2):c.5183G>A (p.Ser1728Asn)
|
rs1596460117
|
|
NM_000548.5(TSC2):c.5183G>T (p.Ser1728Ile)
|
rs1596460117
|
|
NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg)
|
rs397514955
|
|
NM_000548.5(TSC2):c.5185C>G (p.Arg1729Gly)
|
rs45517409
|
|
NM_000548.5(TSC2):c.5188T>C (p.Ser1730Pro)
|
rs2151628975
|
|
NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys)
|
rs2091134565
|
|
NM_000548.5(TSC2):c.5189C>T (p.Ser1730Phe)
|
|
|
NM_000548.5(TSC2):c.5191A>C (p.Asn1731His)
|
rs1555440500
|
|
NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys)
|
rs753336580
|
|
NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala)
|
rs759007975
|
|
NM_000548.5(TSC2):c.5195C>G (p.Pro1732Arg)
|
rs1446388626
|
|
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5197_5202delinsGAC (p.Thr1733del)
|
rs1064792922
|
|
NM_000548.5(TSC2):c.5199C>A (p.Thr1733=)
|
rs778378296
|
|
NM_000548.5(TSC2):c.5201A>C (p.Asp1734Ala)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5202_5203delinsCG (p.Ile1735Val)
|
|
|
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser)
|
rs786203769
|
|
NM_000548.5(TSC2):c.5213C>G (p.Ser1738Cys)
|
rs2151630518
|
|
NM_000548.5(TSC2):c.5215A>G (p.Lys1739Glu)
|
|
|
NM_000548.5(TSC2):c.5216A>C (p.Lys1739Thr)
|
rs2151630716
|
|
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5222T>C (p.Ile1741Thr)
|
rs935521633
|
|
NM_000548.5(TSC2):c.5225C>G (p.Ala1742Gly)
|
|
|
NM_000548.5(TSC2):c.5225C>T (p.Ala1742Val)
|
rs1369101862
|
|
NM_000548.5(TSC2):c.5230C>G (p.Leu1744Val)
|
|
|
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe)
|
rs1567132207
|
|
NM_000548.5(TSC2):c.5234G>T (p.Arg1745Leu)
|
rs766093661
|
|
NM_000548.5(TSC2):c.5237A>G (p.His1746Arg)
|
rs2151631825
|
|
NM_000548.5(TSC2):c.5238C>A (p.His1746Gln)
|
rs1060504084
|
|
NM_000548.5(TSC2):c.5238_5255dup (p.His1746_Arg1751dup)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5239A>T (p.Ile1747Phe)
|
rs2151631966
|
|
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys)
|
rs1555498151
|
|
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln)
|
rs1555498151
|
|
NM_000548.5(TSC2):c.5240_5242dup (p.Ile1747dup)
|
rs1555440757
|
|
NM_000548.5(TSC2):c.5240_5251del (p.Ile1747_Arg1751delinsSer)
|
|
|
NM_000548.5(TSC2):c.5241C>G (p.Ile1747Met)
|
|
|
NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln)
|
rs1555440785
|
|
NM_000548.5(TSC2):c.5246G>C (p.Arg1749Pro)
|
|
|
NM_000548.5(TSC2):c.5252G>C (p.Arg1751Pro)
|
rs373365980
|
|
NM_000548.5(TSC2):c.5252_5259+19dup
|
rs137854397
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5255A>G (p.Gln1752Arg)
|
|
|
NM_000548.5(TSC2):c.5257C>G (p.Arg1753Gly)
|
|
|
NM_000548.5(TSC2):c.5258G>C (p.Arg1753Pro)
|
rs749487441
|
|
NM_000548.5(TSC2):c.5259+2T>C
|
rs1555440894
|
|
NM_000548.5(TSC2):c.5259+2_5259+28del
|
rs759520580
|
|
NM_000548.5(TSC2):c.5259+3A>C
|
rs1555440897
|
|
NM_000548.5(TSC2):c.5259+3A>G
|
rs1555440897
|
|
NM_000548.5(TSC2):c.5259+4G>A
|
rs2091153561
|
|
NM_000548.5(TSC2):c.5259+50_5275del
|
rs2091168537
|
|
NM_000548.5(TSC2):c.5259+5G>A
|
|
|
NM_000548.5(TSC2):c.5259+7A>T
|
rs1060504122
|
|
NM_000548.5(TSC2):c.5259G>A (p.Arg1753=)
|
rs1060500945
|
|
NM_000548.5(TSC2):c.5259G>C (p.Arg1753=)
|
rs1060500945
|
|
NM_000548.5(TSC2):c.5260-10_5260-5del
|
|
|
NM_000548.5(TSC2):c.5260-10_5278del
|
rs756272343
|
|
NM_000548.5(TSC2):c.5260-11T>A
|
|
|
NM_000548.5(TSC2):c.5260-13_5260-12insTTGC
|
|
|
NM_000548.5(TSC2):c.5260-1G>A
|
rs1057518103
|
|
NM_000548.5(TSC2):c.5260-2A>C
|
rs1374323400
|
|
NM_000548.5(TSC2):c.5260-3C>T
|
|
|
NM_000548.5(TSC2):c.5260-7C>A
|
rs1596462958
|
|
NM_000548.5(TSC2):c.5260-7_5260-5delinsGTGC
|
rs1567133272
|
|
NM_000548.5(TSC2):c.5260-9_5279del
|
rs967037646
|
|
NM_000548.5(TSC2):c.5260A>G (p.Ile1754Val)
|
rs2151637498
|
|
NM_000548.5(TSC2):c.5261T>C (p.Ile1754Thr)
|
|
|
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)
|
rs762320484
|
|
NM_000548.5(TSC2):c.5263T>C (p.Cys1755Arg)
|
rs2151637657
|
|
NM_000548.5(TSC2):c.5264G>T (p.Cys1755Phe)
|
rs761162904
|
|
NM_000548.5(TSC2):c.5265C>G (p.Cys1755Trp)
|
rs141449031
|
|
NM_000548.5(TSC2):c.5266G>C (p.Glu1756Gln)
|
rs375075952
|
|
NM_000548.5(TSC2):c.5266G>T (p.Glu1756Ter)
|
|
|
NM_000548.5(TSC2):c.5266_5276delinsCTTCAGAT (p.Glu1756_Ala1759delinsLeuGlnIle)
|
|
|
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)
|
rs755229386
|
|
NM_000548.5(TSC2):c.5270A>C (p.Glu1757Ala)
|
rs2151637961
|
|
NM_000548.5(TSC2):c.5271A>C (p.Glu1757Asp)
|
rs1060500967
|
|
NM_000548.5(TSC2):c.5272G>A (p.Ala1758Thr)
|
rs1555441169
|
|
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)
|
rs1555441169
|
|
NM_000548.5(TSC2):c.5273C>T (p.Ala1758Val)
|
rs547597044
|
|
NM_000548.5(TSC2):c.5275G>C (p.Ala1759Pro)
|
rs758450326
|
|
NM_000548.5(TSC2):c.5277del (p.Tyr1760fs)
|
|
|
NM_000548.5(TSC2):c.5278T>C (p.Tyr1760His)
|
rs2151638289
|
|
NM_000548.5(TSC2):c.5279A>C (p.Tyr1760Ser)
|
rs1261020269
|
|
NM_000548.5(TSC2):c.5279_5282dup (p.Asn1762fs)
|
|
|
NM_000548.5(TSC2):c.5282C>A (p.Ser1761Tyr)
|
|
|
NM_000548.5(TSC2):c.5284A>C (p.Asn1762His)
|
|
|
NM_000548.5(TSC2):c.5284A>G (p.Asn1762Asp)
|
rs1567133600
|
|
NM_000548.5(TSC2):c.5286C>A (p.Asn1762Lys)
|
rs757204634
|
|
NM_000548.5(TSC2):c.5287C>T (p.Pro1763Ser)
|
rs2151638570
|
|
NM_000548.5(TSC2):c.528C>A (p.Phe176Leu)
|
rs2151059657
|
|
NM_000548.5(TSC2):c.5290A>C (p.Ser1764Arg)
|
|
|
NM_000548.5(TSC2):c.5291G>C (p.Ser1764Thr)
|
rs138831802
|
|
NM_000548.5(TSC2):c.5293C>A (p.Leu1765Ile)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5293C>G (p.Leu1765Val)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5294T>C (p.Leu1765Pro)
|
rs2151638859
|
|
NM_000548.5(TSC2):c.5294_5296dup (p.Leu1765dup)
|
rs2151638830
|
|
NM_000548.5(TSC2):c.5299C>A (p.Leu1767Met)
|
rs1051758
|
|
NM_000548.5(TSC2):c.52C>G (p.Leu18Val)
|
|
|
NM_000548.5(TSC2):c.5300T>A (p.Leu1767Gln)
|
|
|
NM_000548.5(TSC2):c.5302G>A (p.Val1768Met)
|
rs2151639120
|
|
NM_000548.5(TSC2):c.5303T>C (p.Val1768Ala)
|
rs1171556696
|
|
NM_000548.5(TSC2):c.5306A>G (p.His1769Arg)
|
rs1567133809
|
|
NM_000548.5(TSC2):c.5307C>G (p.His1769Gln)
|
rs562220073
|
|
NM_000548.5(TSC2):c.5311C>A (p.Pro1771Thr)
|
rs777006583
|
|
NM_000548.5(TSC2):c.5311C>T (p.Pro1771Ser)
|
rs777006583
|
|
NM_000548.5(TSC2):c.5312C>A (p.Pro1771Gln)
|
rs137854214
|
|
NM_000548.5(TSC2):c.5314T>G (p.Ser1772Ala)
|
rs1060500973
|
|
NM_000548.5(TSC2):c.5315C>T (p.Ser1772Phe)
|
rs2151639562
|
|
NM_000548.5(TSC2):c.5317C>A (p.His1773Asn)
|
rs1030998097
|
|
NM_000548.5(TSC2):c.5317C>T (p.His1773Tyr)
|
|
|
NM_000548.5(TSC2):c.5318A>C (p.His1773Pro)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5318A>T (p.His1773Leu)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5320_5326del (p.Ser1774fs)
|
rs2091199193
|
|
NM_000548.5(TSC2):c.5321G>T (p.Ser1774Ile)
|
|
|
NM_000548.5(TSC2):c.5324_5325dup (p.Ala1776fs)
|
rs2151639909
|
|
NM_000548.5(TSC2):c.5326G>C (p.Ala1776Pro)
|
|
|
NM_000548.5(TSC2):c.5326G>T (p.Ala1776Ser)
|
|
|
NM_000548.5(TSC2):c.5326_5327delinsTT (p.Ala1776Phe)
|
rs2091200200
|
|
NM_000548.5(TSC2):c.5329C>G (p.Pro1777Ala)
|
rs781226141
|
|
NM_000548.5(TSC2):c.5330C>A (p.Pro1777His)
|
rs1555441353
|
|
NM_000548.5(TSC2):c.5330C>G (p.Pro1777Arg)
|
rs1555441353
|
|
NM_000548.5(TSC2):c.5330_5339del (p.Pro1777fs)
|
rs2151640132
|
|
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val)
|
rs755900742
|
|
NM_000548.5(TSC2):c.5335C>A (p.Gln1779Lys)
|
rs1396666232
|
|
NM_000548.5(TSC2):c.5335_5336del (p.Gln1779fs)
|
rs2151640273
|
|
NM_000548.5(TSC2):c.5338A>G (p.Thr1780Ala)
|
|
|
NM_000548.5(TSC2):c.5340_5354dup (p.Pro1786_Gly1787insAlaGluProThrPro)
|
|
|
NM_000548.5(TSC2):c.5341C>A (p.Pro1781Thr)
|
rs1555441410
|
|
NM_000548.5(TSC2):c.5341C>G (p.Pro1781Ala)
|
rs1555441410
|
|
NM_000548.5(TSC2):c.5344G>A (p.Ala1782Thr)
|
rs1405712076
|
|
NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser)
|
rs1405712076
|
|
NM_000548.5(TSC2):c.5345C>G (p.Ala1782Gly)
|
rs2091206453
|
|
NM_000548.5(TSC2):c.5345C>T (p.Ala1782Val)
|
|
|
NM_000548.5(TSC2):c.5347G>T (p.Glu1783Ter)
|
rs777166275
|
|
NM_000548.5(TSC2):c.5348A>G (p.Glu1783Gly)
|
rs1555441444
|
|
NM_000548.5(TSC2):c.5349G>T (p.Glu1783Asp)
|
|
|
NM_000548.5(TSC2):c.5350C>T (p.Pro1784Ser)
|
|
|
NM_000548.5(TSC2):c.5353A>C (p.Thr1785Pro)
|
rs1555441455
|
|
NM_000548.5(TSC2):c.5353A>G (p.Thr1785Ala)
|
rs1555441455
|
|
NM_000548.5(TSC2):c.5353A>T (p.Thr1785Ser)
|
rs1555441455
|
|
NM_000548.5(TSC2):c.5360G>A (p.Gly1787Asp)
|
|
|
NM_000548.5(TSC2):c.5361C>G (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5362T>C (p.Tyr1788His)
|
rs904411432
|
|
NM_000548.5(TSC2):c.5363A>C (p.Tyr1788Ser)
|
rs397515221
|
|
NM_000548.5(TSC2):c.5364T>G (p.Tyr1788Ter)
|
rs367703283
|
|
NM_000548.5(TSC2):c.5366_5368del (p.Glu1789del)
|
rs2151641485
|
|
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5369T>A (p.Val1790Glu)
|
rs1596464243
|
|
NM_000548.5(TSC2):c.5369T>G (p.Val1790Gly)
|
rs1596464243
|
|
NM_000548.5(TSC2):c.5372G>A (p.Gly1791Asp)
|
rs2091211512
|
|
NM_000548.5(TSC2):c.5372G>C (p.Gly1791Ala)
|
rs2091211512
|
|
NM_000548.5(TSC2):c.5374C>T (p.Gln1792Ter)
|
|
|
NM_000548.5(TSC2):c.5376G>C (p.Gln1792His)
|
rs45517422
|
|
NM_000548.5(TSC2):c.5378G>C (p.Arg1793Pro)
|
rs45506695
|
|
NM_000548.5(TSC2):c.5380A>C (p.Lys1794Gln)
|
|
|
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup)
|
rs137854335
|
|
NM_000548.5(TSC2):c.5383C>G (p.Arg1795Gly)
|
rs45517423
|
|
NM_000548.5(TSC2):c.5389_5391dup (p.Ile1797_Ser1798insIle)
|
|
|
NM_000548.5(TSC2):c.538C>A (p.Leu180Met)
|
rs45485591
|
|
NM_000548.5(TSC2):c.5390T>C (p.Ile1797Thr)
|
rs2151642406
|
|
NM_000548.5(TSC2):c.5393C>T (p.Ser1798Phe)
|
rs2091216208
|
|
NM_000548.5(TSC2):c.5395T>G (p.Ser1799Ala)
|
rs1231583517
|
|
NM_000548.5(TSC2):c.5396C>G (p.Ser1799Trp)
|
rs778484981
|
|
NM_000548.5(TSC2):c.5397_5398delinsCA (p.Val1800Met)
|
rs2091217432
|
|
NM_000548.5(TSC2):c.5399T>C (p.Val1800Ala)
|
rs2091217625
|
|
NM_000548.5(TSC2):c.5399_5401del (p.Val1800del)
|
|
|
NM_000548.5(TSC2):c.539T>G (p.Leu180Arg)
|
rs1567403610
|
|
NM_000548.5(TSC2):c.5400GGA[1] (p.Glu1801del)
|
rs2151642912
|
|
NM_000548.5(TSC2):c.5401_5402delinsTT (p.Glu1801Leu)
|
|
|
NM_000548.5(TSC2):c.5403G>T (p.Glu1801Asp)
|
rs1060500918
|
|
NM_000548.5(TSC2):c.5407T>C (p.Phe1803Leu)
|
|
|
NM_000548.5(TSC2):c.5408T>C (p.Phe1803Ser)
|
rs2151643160
|
|
NM_000548.5(TSC2):c.540G>A (p.Leu180=)
|
rs1567403619
|
|
NM_000548.5(TSC2):c.5411C>T (p.Thr1804Ile)
|
rs2151643245
|
|
NM_000548.5(TSC2):c.5413G>C (p.Glu1805Gln)
|
rs376017665
|
|
NM_000548.5(TSC2):c.5413G>T (p.Glu1805Ter)
|
|
|
NM_000548.5(TSC2):c.5414A>G (p.Glu1805Gly)
|
rs2091219993
|
|
NM_000548.5(TSC2):c.5415G>C (p.Glu1805Asp)
|
rs982803529
|
|
NM_000548.5(TSC2):c.5417_5418del (p.Phe1806fs)
|
|
|
NM_000548.5(TSC2):c.5419G>A (p.Val1807Met)
|
|
|
NM_000548.5(TSC2):c.5419G>T (p.Val1807Leu)
|
rs45486402
|
|
NM_000548.5(TSC2):c.541G>A (p.Val181Met)
|
rs2151060118
|
|
NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg)
|
rs1567135442
|
|
NM_000548.5(TSC2):c.542T>C (p.Val181Ala)
|
|
|
NM_000548.5(TSC2):c.544A>G (p.Asn182Asp)
|
|
|
NM_000548.5(TSC2):c.545A>T (p.Asn182Ile)
|
rs1016698636
|
|
NM_000548.5(TSC2):c.549G>C (p.Leu183Phe)
|
rs1415519717
|
|
NM_000548.5(TSC2):c.551T>G (p.Val184Gly)
|
rs2085667006
|
|
NM_000548.5(TSC2):c.554A>C (p.Lys185Thr)
|
rs2151060565
|
|
NM_000548.5(TSC2):c.558C>A (p.Phe186Leu)
|
rs775642056
|
|
NM_000548.5(TSC2):c.563G>A (p.Ser188Asn)
|
|
|
NM_000548.5(TSC2):c.563G>C (p.Ser188Thr)
|
|
|
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser)
|
rs764218079
|
|
NM_000548.5(TSC2):c.571C>T (p.Leu191Phe)
|
rs1555498201
|
|
NM_000548.5(TSC2):c.572T>A (p.Leu191His)
|
|
|
NM_000548.5(TSC2):c.572T>C (p.Leu191Pro)
|
|
|
NM_000548.5(TSC2):c.573CGA[1] (p.Asp192del)
|
|
|
NM_000548.5(TSC2):c.574G>A (p.Asp192Asn)
|
rs1284679649
|
|
NM_000548.5(TSC2):c.576C>G (p.Asp192Glu)
|
|
|
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
|
|
|
NM_000548.5(TSC2):c.578A>C (p.Glu193Ala)
|
rs2085672813
|
|
NM_000548.5(TSC2):c.578A>G (p.Glu193Gly)
|
rs2085672813
|
|
NM_000548.5(TSC2):c.581A>G (p.Tyr194Cys)
|
rs1555498219
|
|
NM_000548.5(TSC2):c.585C>G (p.Ile195Met)
|
rs397515309
|
|
NM_000548.5(TSC2):c.587C>T (p.Ala196Val)
|
rs1596271211
|
|
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)
|
rs45517114
|
|
NM_000548.5(TSC2):c.594G>A (p.Met198Ile)
|
rs1452242351
|
|
NM_000548.5(TSC2):c.596T>C (p.Val199Ala)
|
rs1555498243
|
|
NM_000548.5(TSC2):c.599+13T>G
|
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
|
NM_000548.5(TSC2):c.599+4A>G
|
rs397515140
|
|
NM_000548.5(TSC2):c.599+5G>A
|
rs45463996
|
|
NM_000548.5(TSC2):c.599+5G>C
|
rs45463996
|
|
NM_000548.5(TSC2):c.599+6A>G
|
rs2085679383
|
|
NM_000548.5(TSC2):c.599+9A>G
|
|
|
NM_000548.5(TSC2):c.599A>G (p.Gln200Arg)
|
rs2085677930
|
|
NM_000548.5(TSC2):c.599A>T (p.Gln200Leu)
|
|
|
NM_000548.5(TSC2):c.59G>T (p.Gly20Val)
|
rs2150971313
|
|
NM_000548.5(TSC2):c.5C>T (p.Ala2Val)
|
rs2084668501
|
|
NM_000548.5(TSC2):c.600-11G>T
|
|
|
NM_000548.5(TSC2):c.600-14_600-8del
|
|
|
NM_000548.5(TSC2):c.600-8C>G
|
|
|
NM_000548.5(TSC2):c.600-9T>A
|
rs1265270587
|
|
NM_000548.5(TSC2):c.601A>G (p.Met201Val)
|
rs1596275224
|
|
NM_000548.5(TSC2):c.601A>T (p.Met201Leu)
|
rs1596275224
|
|
NM_000548.5(TSC2):c.602T>C (p.Met201Thr)
|
rs2151070731
|
|
NM_000548.5(TSC2):c.605T>C (p.Ile202Thr)
|
|
|
NM_000548.5(TSC2):c.613C>G (p.Leu205Val)
|
rs1596275276
|
|
NM_000548.5(TSC2):c.614T>C (p.Leu205Pro)
|
rs2085789314
|
|
NM_000548.5(TSC2):c.616T>C (p.Cys206Arg)
|
rs1596275305
|
|
NM_000548.5(TSC2):c.617G>A (p.Cys206Tyr)
|
rs2085790261
|
|
NM_000548.5(TSC2):c.61C>A (p.Leu21Met)
|
rs2084676177
|
|
NM_000548.5(TSC2):c.61C>G (p.Leu21Val)
|
|
|
NM_000548.5(TSC2):c.628G>C (p.Ala210Pro)
|
rs147196739
|
|
NM_000548.5(TSC2):c.629C>G (p.Ala210Gly)
|
rs764925296
|
|
NM_000548.5(TSC2):c.635C>G (p.Ser212Cys)
|
|
|
NM_000548.5(TSC2):c.637G>A (p.Val213Met)
|
rs1060500927
|
|
NM_000548.5(TSC2):c.641_648+1del
|
rs2085795613
|
|
NM_000548.5(TSC2):c.644T>C (p.Ile215Thr)
|
rs1555498571
|
|
NM_000548.5(TSC2):c.646G>C (p.Glu216Gln)
|
rs45517118
|
|
NM_000548.5(TSC2):c.648+4A>G
|
rs2151071557
|
|
NM_000548.5(TSC2):c.648+5G>A
|
rs2085796888
|
|
NM_000548.5(TSC2):c.648+5G>C
|
rs2085796888
|
|
NM_000548.5(TSC2):c.648+6_649-166del
|
|
|
NM_000548.5(TSC2):c.648G>A (p.Glu216=)
|
|
|
NM_000548.5(TSC2):c.649-7C>A
|
rs1596277822
|
|
NM_000548.5(TSC2):c.649G>A (p.Val217Ile)
|
rs1567407896
|
|
NM_000548.5(TSC2):c.649G>C (p.Val217Leu)
|
rs1567407896
|
|
NM_000548.5(TSC2):c.653C>T (p.Ser218Phe)
|
|
|
NM_000548.5(TSC2):c.655C>G (p.Leu219Val)
|
rs369046625
|
|
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)
|
rs397515249
|
|
NM_000548.5(TSC2):c.658C>G (p.Gln220Glu)
|
rs45517119
|
|
NM_000548.5(TSC2):c.65G>C (p.Gly22Ala)
|
rs2084676497
|
|
NM_000548.5(TSC2):c.661G>A (p.Val221Met)
|
rs1567408059
|
|
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro)
|
rs45517120
|
|
NM_000548.5(TSC2):c.667G>A (p.Asp223Asn)
|
rs45517121
|
|
NM_000548.5(TSC2):c.668A>G (p.Asp223Gly)
|
|
|
NM_000548.5(TSC2):c.671C>T (p.Ala224Val)
|
rs2151078164
|
|
NM_000548.5(TSC2):c.673G>T (p.Val225Leu)
|
rs142919353
|
|
NM_000548.5(TSC2):c.674T>A (p.Val225Glu)
|
rs1437259556
|
|
NM_000548.5(TSC2):c.676G>C (p.Val226Leu)
|
rs2085881555
|
|
NM_000548.5(TSC2):c.679T>C (p.Cys227Arg)
|
|
|
NM_000548.5(TSC2):c.680_682del (p.Cys227del)
|
rs2151078439
|
|
NM_000548.5(TSC2):c.683A>G (p.Tyr228Cys)
|
rs2085882405
|
|
NM_000548.5(TSC2):c.687C>G (p.Asn229Lys)
|
rs1555498802
|
|
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser)
|
rs1043187800
|
|
NM_000548.5(TSC2):c.688T>C (p.Cys230Arg)
|
rs1043187800
|
|
NM_000548.5(TSC2):c.695C>G (p.Pro232Arg)
|
|
|
NM_000548.5(TSC2):c.697G>T (p.Ala233Ser)
|
rs1567408479
|
|
NM_000548.5(TSC2):c.698C>G (p.Ala233Gly)
|
rs1555498839
|
|
NM_000548.5(TSC2):c.700G>C (p.Glu234Gln)
|
rs397515018
|
|
NM_000548.5(TSC2):c.703A>G (p.Ser235Gly)
|
rs1567408536
|
|
NM_000548.5(TSC2):c.705C>A (p.Ser235Arg)
|
|
|
NM_000548.5(TSC2):c.706C>T (p.Leu236Phe)
|
|
|
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)
|
rs1596278377
|
|
NM_000548.5(TSC2):c.707_708delinsCT (p.Leu236Pro)
|
rs2085886566
|
|
NM_000548.5(TSC2):c.709C>G (p.Pro237Ala)
|
rs1555498859
|
|
NM_000548.5(TSC2):c.709C>T (p.Pro237Ser)
|
rs1555498859
|
|
NM_000548.5(TSC2):c.70C>A (p.Pro24Thr)
|
rs1567380585
|
|
NM_000548.5(TSC2):c.710C>A (p.Pro237Gln)
|
rs139060277
|
|
NM_000548.5(TSC2):c.710C>G (p.Pro237Arg)
|
rs139060277
|
|
NM_000548.5(TSC2):c.712C>G (p.Leu238Val)
|
|
|
NM_000548.5(TSC2):c.717C>A (p.Phe239Leu)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.718A>C (p.Ile240Leu)
|
|
|
NM_000548.5(TSC2):c.718A>G (p.Ile240Val)
|
rs796053482
|
|
NM_000548.5(TSC2):c.718A>T (p.Ile240Phe)
|
rs796053482
|
|
NM_000548.5(TSC2):c.718_720del (p.Ile240del)
|
rs2151079854
|
|
NM_000548.5(TSC2):c.71C>A (p.Pro24Gln)
|
rs868467487
|
|
NM_000548.5(TSC2):c.71C>T (p.Pro24Leu)
|
rs868467487
|
|
NM_000548.5(TSC2):c.721G>C (p.Val241Leu)
|
rs200943828
|
|
NM_000548.5(TSC2):c.722T>C (p.Val241Ala)
|
rs888878542
|
|
NM_000548.5(TSC2):c.725C>A (p.Thr242Asn)
|
rs1007232729
|
|
NM_000548.5(TSC2):c.725C>T (p.Thr242Ile)
|
rs1007232729
|
|
NM_000548.5(TSC2):c.727C>G (p.Leu243Val)
|
rs796053502
|
|
NM_000548.5(TSC2):c.733C>G (p.Arg245Gly)
|
rs375574283
|
|
NM_000548.5(TSC2):c.734G>T (p.Arg245Leu)
|
|
|
NM_000548.5(TSC2):c.743A>C (p.Asn248Thr)
|
|
|
NM_000548.5(TSC2):c.746T>C (p.Val249Ala)
|
rs1596278719
|
|
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu)
|
rs2085894886
|
|
NM_000548.5(TSC2):c.749A>G (p.Lys250Arg)
|
rs2151081016
|
|
NM_000548.5(TSC2):c.74G>T (p.Arg25Met)
|
|
|
NM_000548.5(TSC2):c.751G>A (p.Glu251Lys)
|
rs1114167465
|
|
NM_000548.5(TSC2):c.751G>C (p.Glu251Gln)
|
|
|
NM_000548.5(TSC2):c.754C>A (p.Leu252Ile)
|
rs766770734
|
|
NM_000548.5(TSC2):c.764C>A (p.Pro255His)
|
rs2085896951
|
|
NM_000548.5(TSC2):c.767G>A (p.Cys256Tyr)
|
|
|
NM_000548.5(TSC2):c.767G>T (p.Cys256Phe)
|
rs1567409304
|
|
NM_000548.5(TSC2):c.768C>G (p.Cys256Trp)
|
rs45517127
|
|
NM_000548.5(TSC2):c.76C>T (p.Pro26Ser)
|
|
|
NM_000548.5(TSC2):c.772A>C (p.Lys258Gln)
|
|
|
NM_000548.5(TSC2):c.774+3G>A
|
|
|
NM_000548.5(TSC2):c.774+3G>C
|
rs2151081990
|
|
NM_000548.5(TSC2):c.774+4G>C
|
rs1244859914
|
|
NM_000548.5(TSC2):c.774+4G>T
|
|
|
NM_000548.5(TSC2):c.774+6G>C
|
|
|
NM_000548.5(TSC2):c.775-10T>G
|
rs1555499018
|
|
NM_000548.5(TSC2):c.775-34_775-9del
|
|
|
NM_000548.5(TSC2):c.775-3C>A
|
rs397514909
|
|
NM_000548.5(TSC2):c.775-3C>T
|
|
|
NM_000548.5(TSC2):c.778A>T (p.Met260Leu)
|
rs2085953921
|
|
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu)
|
rs1555494636
|
|
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)
|
rs45517130
|
|
NM_000548.5(TSC2):c.785A>T (p.Asn262Ile)
|
rs2085955900
|
|
NM_000548.5(TSC2):c.786C>A (p.Asn262Lys)
|
rs1485087555
|
|
NM_000548.5(TSC2):c.787C>T (p.Leu263Phe)
|
rs2151086992
|
|
NM_000548.5(TSC2):c.788T>C (p.Leu263Pro)
|
|
|
NM_000548.5(TSC2):c.790C>T (p.Leu264Phe)
|
rs2085956949
|
|
NM_000548.5(TSC2):c.793G>A (p.Gly265Ser)
|
rs1567410457
|
|
NM_000548.5(TSC2):c.794G>T (p.Gly265Val)
|
rs1188591008
|
|
NM_000548.5(TSC2):c.796A>G (p.Thr266Ala)
|
rs1433069377
|
|
NM_000548.5(TSC2):c.797C>T (p.Thr266Ile)
|
|
|
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp)
|
rs2084677815
|
|
NM_000548.5(TSC2):c.801C>A (p.His267Gln)
|
|
|
NM_000548.5(TSC2):c.802C>G (p.Leu268Val)
|
rs1396943042
|
|
NM_000548.5(TSC2):c.803T>G (p.Leu268Arg)
|
rs2085959207
|
|
NM_000548.5(TSC2):c.804G>A (p.Leu268=)
|
rs2151087245
|
|
NM_000548.5(TSC2):c.805G>A (p.Gly269Ser)
|
rs1596280654
|
|
NM_000548.5(TSC2):c.806G>C (p.Gly269Ala)
|
|
|
NM_000548.5(TSC2):c.808C>T (p.His270Tyr)
|
|
|
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly)
|
rs1555499071
|
|
NM_000548.5(TSC2):c.813C>A (p.Ser271Arg)
|
|
|
NM_000548.5(TSC2):c.813C>G (p.Ser271Arg)
|
rs752676212
|
|
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser)
|
rs373818076
|
|
NM_000548.5(TSC2):c.815C>A (p.Ala272Asp)
|
|
|
NM_000548.5(TSC2):c.820T>G (p.Tyr274Asp)
|
rs367642937
|
|
NM_000548.5(TSC2):c.824A>G (p.Asn275Ser)
|
|
|
NM_000548.5(TSC2):c.826A>G (p.Met276Val)
|
rs1238874343
|
|
NM_000548.5(TSC2):c.828G>T (p.Met276Ile)
|
rs1318274503
|
|
NM_000548.5(TSC2):c.82C>A (p.Pro28Thr)
|
rs200480606
|
|
NM_000548.5(TSC2):c.82C>G (p.Pro28Ala)
|
|
|
NM_000548.5(TSC2):c.830G>T (p.Cys277Phe)
|
rs1216101095
|
|
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp)
|
rs1057523424
|
|
NM_000548.5(TSC2):c.832C>T (p.His278Tyr)
|
rs2085965079
|
|
NM_000548.5(TSC2):c.836T>A (p.Leu279His)
|
|
|
NM_000548.5(TSC2):c.836T>C (p.Leu279Pro)
|
|
|
NM_000548.5(TSC2):c.838A>G (p.Met280Val)
|
rs1596280903
|
|
NM_000548.5(TSC2):c.839T>G (p.Met280Arg)
|
|
|
NM_000548.5(TSC2):c.844G>T (p.Asp282Tyr)
|
rs1192271452
|
|
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)
|
rs587778734
|
|
NM_000548.5(TSC2):c.846C>G (p.Asp282Glu)
|
|
|
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)
|
rs1596280931
|
|
NM_000548.5(TSC2):c.848+5G>T
|
rs1370989559
|
|
NM_000548.5(TSC2):c.848+6T>C
|
|
|
NM_000548.5(TSC2):c.849-10A>G
|
rs1596288175
|
|
NM_000548.5(TSC2):c.849-3T>C
|
rs45489591
|
|
NM_000548.5(TSC2):c.849-4_849-3del
|
rs1295449344
|
|
NM_000548.5(TSC2):c.849A>C (p.Arg283Ser)
|
rs1596288325
|
|
NM_000548.5(TSC2):c.851C>A (p.Ala284Asp)
|
|
|
NM_000548.5(TSC2):c.851C>G (p.Ala284Gly)
|
rs1195702502
|
|
NM_000548.5(TSC2):c.853T>C (p.Tyr285His)
|
|
|
NM_000548.5(TSC2):c.853T>G (p.Tyr285Asp)
|
|
|
NM_000548.5(TSC2):c.856A>C (p.Met286Leu)
|
|
|
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys)
|
rs397515300
|
|
NM_000548.5(TSC2):c.85A>G (p.Arg29Gly)
|
|
|
NM_000548.5(TSC2):c.862G>A (p.Asp288Asn)
|
rs1555499648
|
|
NM_000548.5(TSC2):c.862G>T (p.Asp288Tyr)
|
|
|
NM_000548.5(TSC2):c.865G>C (p.Ala289Pro)
|
|
|
NM_000548.5(TSC2):c.866C>A (p.Ala289Glu)
|
|
|
NM_000548.5(TSC2):c.869C>T (p.Pro290Leu)
|
rs2151106083
|
|
NM_000548.5(TSC2):c.86G>A (p.Arg29Lys)
|
rs1567380695
|
|
NM_000548.5(TSC2):c.86G>C (p.Arg29Thr)
|
rs1567380695
|
|
NM_000548.5(TSC2):c.871C>G (p.Leu291Val)
|
rs45517137
|
|
NM_000548.5(TSC2):c.878G>A (p.Arg293Lys)
|
rs2151106417
|
|
NM_000548.5(TSC2):c.87G>T (p.Arg29Ser)
|
rs1010489256
|
|
NM_000548.5(TSC2):c.883G>C (p.Ala295Pro)
|
|
|
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)
|
rs1596288578
|
|
NM_000548.5(TSC2):c.884C>T (p.Ala295Val)
|
rs1596288578
|
|
NM_000548.5(TSC2):c.886G>T (p.Val296Leu)
|
rs747237113
|
|
NM_000548.5(TSC2):c.897G>A (p.Val299=)
|
rs1382139812
|
|
NM_000548.5(TSC2):c.898G>T (p.Gly300Cys)
|
|
|
NM_000548.5(TSC2):c.901A>C (p.Met301Leu)
|
rs1356498946
|
|
NM_000548.5(TSC2):c.902T>C (p.Met301Thr)
|
rs1060500949
|
|
NM_000548.5(TSC2):c.905C>G (p.Ala302Gly)
|
rs2151107275
|
|
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.907C>G (p.Leu303Val)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.913G>A (p.Gly305Arg)
|
rs1567415674
|
|
NM_000548.5(TSC2):c.914G>T (p.Gly305Val)
|
rs770137362
|
|
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)
|
|
|
NM_000548.5(TSC2):c.917C>T (p.Ala306Val)
|
rs2086235107
|
|
NM_000548.5(TSC2):c.919C>T (p.His307Tyr)
|
rs1279645051
|
|
NM_000548.5(TSC2):c.921C>A (p.His307Gln)
|
|
|
NM_000548.5(TSC2):c.92C>T (p.Ala31Val)
|
rs1567380741
|
|
NM_000548.5(TSC2):c.931T>A (p.Ser311Thr)
|
rs775590764
|
|
NM_000548.5(TSC2):c.932C>T (p.Ser311Phe)
|
rs1475672414
|
|
NM_000548.5(TSC2):c.934C>G (p.Leu312Val)
|
rs755368431
|
|
NM_000548.5(TSC2):c.934C>T (p.Leu312Phe)
|
rs755368431
|
|
NM_000548.5(TSC2):c.937A>T (p.Arg313Trp)
|
rs2086239979
|
|
NM_000548.5(TSC2):c.938G>A (p.Arg313Lys)
|
|
|
NM_000548.5(TSC2):c.941A>G (p.Asn314Ser)
|
rs878854123
|
|
NM_000548.5(TSC2):c.942C>G (p.Asn314Lys)
|
|
|
NM_000548.5(TSC2):c.943T>G (p.Ser315Ala)
|
|
|
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)
|
rs751490043
|
|
NM_000548.5(TSC2):c.94G>A (p.Glu32Lys)
|
rs2084679567
|
|
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)
|
rs1596289105
|
|
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe)
|
rs1131825
|
|
NM_000548.5(TSC2):c.961C>A (p.Pro321Thr)
|
|
|
NM_000548.5(TSC2):c.962C>T (p.Pro321Leu)
|
rs2151109772
|
|
NM_000548.5(TSC2):c.969T>G (p.Phe323Leu)
|
rs2151109944
|
|
NM_000548.5(TSC2):c.970T>C (p.Tyr324His)
|
|
|
NM_000548.5(TSC2):c.970T>G (p.Tyr324Asp)
|
rs2086247823
|
|
NM_000548.5(TSC2):c.974A>C (p.Gln325Pro)
|
rs2086248990
|
|
NM_000548.5(TSC2):c.975+3A>G
|
|
|
NM_000548.5(TSC2):c.975+5G>A
|
|
|
NM_000548.5(TSC2):c.975+5G>C
|
rs45458600
|
|
NM_000548.5(TSC2):c.975+6G>A
|
|
|
NM_000548.5(TSC2):c.975G>C (p.Gln325His)
|
rs1567416259
|
|
NM_000548.5(TSC2):c.976-10C>G
|
rs765990217
|
|
NM_000548.5(TSC2):c.976-18G>T
|
|
|
NM_000548.5(TSC2):c.976-19G>A
|
|
|
NM_000548.5(TSC2):c.976-3del
|
rs2151134253
|
|
NM_000548.5(TSC2):c.976-5T>A
|
rs2086516322
|
|
NM_000548.5(TSC2):c.976-5T>C
|
rs2086516322
|
|
NM_000548.5(TSC2):c.976-6T>A
|
rs2086516048
|
|
NM_000548.5(TSC2):c.976-9G>T
|
|
|
NM_000548.5(TSC2):c.983C>T (p.Ala328Val)
|
|
|
NM_000548.5(TSC2):c.985T>A (p.Cys329Ser)
|
rs2086518199
|
|
NM_000548.5(TSC2):c.986G>A (p.Cys329Tyr)
|
rs2086518389
|
|
NM_000548.5(TSC2):c.988C>T (p.Pro330Ser)
|
rs2151134701
|
|
NM_000548.5(TSC2):c.989C>G (p.Pro330Arg)
|
|
|
NM_000548.5(TSC2):c.989_990delinsGA (p.Pro330Arg)
|
rs2086518574
|
|
NM_000548.5(TSC2):c.990_991delinsAT (p.Asn331Tyr)
|
rs2086518981
|
|
NM_000548.5(TSC2):c.994G>C (p.Glu332Gln)
|
rs911600402
|
|
NM_000548.5(TSC2):c.996G>C (p.Glu332Asp)
|
rs757788971
|
|
NM_000548.5(TSC2):c.997G>A (p.Val333Met)
|
rs1336741146
|
|
NM_000548.5(TSC2):c.998T>C (p.Val333Ala)
|
rs781423177
|
|