NM_006415.4(SPTLC1):c.1153G>A (p.Val385Met)
|
rs373007603
|
0.00010
|
NM_006415.4(SPTLC1):c.888+3A>G
|
rs367646576
|
0.00010
|
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe)
|
rs369803886
|
0.00009
|
NM_006415.4(SPTLC1):c.707G>C (p.Arg236Pro)
|
rs765970732
|
0.00009
|
NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His)
|
rs567541925
|
0.00008
|
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)
|
rs748723735
|
0.00008
|
NM_006415.4(SPTLC1):c.1136+6T>C
|
rs541932144
|
0.00006
|
NM_006415.4(SPTLC1):c.208G>T (p.Val70Phe)
|
rs764460003
|
0.00006
|
NM_006415.4(SPTLC1):c.269G>A (p.Ser90Asn)
|
rs946291571
|
0.00006
|
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly)
|
rs768841574
|
0.00006
|
NM_006415.4(SPTLC1):c.1213C>T (p.Arg405Cys)
|
rs745684683
|
0.00005
|
NM_006415.4(SPTLC1):c.238C>G (p.Leu80Val)
|
rs368960986
|
0.00005
|
NM_006415.4(SPTLC1):c.784A>G (p.Lys262Glu)
|
rs139086093
|
0.00005
|
NM_006415.4(SPTLC1):c.940A>G (p.Ile314Val)
|
rs199609730
|
0.00005
|
NM_006415.4(SPTLC1):c.1393A>G (p.Lys465Glu)
|
rs773640417
|
0.00004
|
NM_006415.4(SPTLC1):c.889-5G>A
|
rs763731160
|
0.00004
|
NM_006415.4(SPTLC1):c.1057C>T (p.Leu353Phe)
|
rs1372273697
|
0.00003
|
NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr)
|
rs143232538
|
0.00003
|
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val)
|
rs781435924
|
0.00003
|
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu)
|
rs371203080
|
0.00002
|
NM_006415.4(SPTLC1):c.1216G>A (p.Glu406Lys)
|
rs750753414
|
0.00002
|
NM_006415.4(SPTLC1):c.1288C>T (p.Arg430Cys)
|
rs143754785
|
0.00002
|
NM_006415.4(SPTLC1):c.165+4C>T
|
rs750680286
|
0.00002
|
NM_006415.4(SPTLC1):c.451C>T (p.Arg151Cys)
|
rs146548058
|
0.00002
|
NM_006415.4(SPTLC1):c.656G>A (p.Arg219Gln)
|
rs373991190
|
0.00002
|
NM_006415.4(SPTLC1):c.907A>T (p.Ile303Phe)
|
rs775359105
|
0.00002
|
NM_006415.4(SPTLC1):c.1066A>G (p.Met356Val)
|
rs369506636
|
0.00001
|
NM_006415.4(SPTLC1):c.1126G>C (p.Ala376Pro)
|
rs1280089627
|
0.00001
|
NM_006415.4(SPTLC1):c.1159G>T (p.Gly387Trp)
|
rs1298409243
|
0.00001
|
NM_006415.4(SPTLC1):c.115C>A (p.Leu39Ile)
|
rs1429250767
|
0.00001
|
NM_006415.4(SPTLC1):c.1204A>G (p.Thr402Ala)
|
rs781421635
|
0.00001
|
NM_006415.4(SPTLC1):c.1255-3C>T
|
rs766223452
|
0.00001
|
NM_006415.4(SPTLC1):c.1328G>C (p.Ser443Thr)
|
rs1463416767
|
0.00001
|
NM_006415.4(SPTLC1):c.1329-1G>T
|
rs756268983
|
0.00001
|
NM_006415.4(SPTLC1):c.1329-8G>A
|
rs375601587
|
0.00001
|
NM_006415.4(SPTLC1):c.1346C>T (p.Thr449Met)
|
rs1391275819
|
0.00001
|
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr)
|
rs150792865
|
0.00001
|
NM_006415.4(SPTLC1):c.139C>T (p.Gln47Ter)
|
rs748093641
|
0.00001
|
NM_006415.4(SPTLC1):c.166-18A>G
|
rs1738529763
|
0.00001
|
NM_006415.4(SPTLC1):c.250A>G (p.Ile84Val)
|
rs375552986
|
0.00001
|
NM_006415.4(SPTLC1):c.253G>A (p.Val85Ile)
|
rs140486014
|
0.00001
|
NM_006415.4(SPTLC1):c.261-5C>G
|
rs762476726
|
0.00001
|
NM_006415.4(SPTLC1):c.265C>A (p.Pro89Thr)
|
rs1223494730
|
0.00001
|
NM_006415.4(SPTLC1):c.342C>A (p.Asn114Lys)
|
rs752029386
|
0.00001
|
NM_006415.4(SPTLC1):c.362C>G (p.Ala121Gly)
|
rs769799806
|
0.00001
|
NM_006415.4(SPTLC1):c.428-1G>C
|
rs776829771
|
0.00001
|
NM_006415.4(SPTLC1):c.457G>T (p.Ala153Ser)
|
rs527406013
|
0.00001
|
NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala)
|
rs779810169
|
0.00001
|
NM_006415.4(SPTLC1):c.487A>G (p.Ile163Val)
|
rs1834354491
|
0.00001
|
NM_006415.4(SPTLC1):c.51T>G (p.Leu17=)
|
rs1400591449
|
0.00001
|
NM_006415.4(SPTLC1):c.608G>A (p.Arg203His)
|
rs778759719
|
0.00001
|
NM_006415.4(SPTLC1):c.616A>G (p.Ile206Val)
|
rs749175480
|
0.00001
|
NM_006415.4(SPTLC1):c.652G>C (p.Glu218Gln)
|
rs371402481
|
0.00001
|
NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter)
|
rs758622840
|
0.00001
|
NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile)
|
rs760231916
|
0.00001
|
NM_006415.4(SPTLC1):c.706C>T (p.Arg236Cys)
|
rs1019261252
|
0.00001
|
NM_006415.4(SPTLC1):c.718C>T (p.Arg240Cys)
|
rs769908505
|
0.00001
|
NM_006415.4(SPTLC1):c.745A>G (p.Met249Val)
|
rs1279567220
|
0.00001
|
NM_006415.4(SPTLC1):c.785A>T (p.Lys262Met)
|
rs748634825
|
0.00001
|
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln)
|
rs771021842
|
0.00001
|
NM_006415.4(SPTLC1):c.889-3C>T
|
rs1833569456
|
0.00001
|
NM_006415.4(SPTLC1):c.908T>C (p.Ile303Thr)
|
rs766476735
|
0.00001
|
NM_006415.4(SPTLC1):c.910A>G (p.Ser304Gly)
|
rs763065459
|
0.00001
|
NM_006415.4(SPTLC1):c.913G>A (p.Ala305Thr)
|
rs199972180
|
0.00001
|
NM_006415.4(SPTLC1):c.974T>C (p.Ile325Thr)
|
rs765166668
|
0.00001
|
NM_006415.4(SPTLC1):c.985-3C>T
|
rs1265439769
|
0.00001
|
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter)
|
rs1215612827
|
0.00001
|
NC_000009.11:g.(?_94794747)_(94877652_?)del
|
|
|
NC_000009.11:g.(?_94794747)_(95527026_?)del
|
|
|
NC_000009.11:g.(?_94842278)_(94843265_?)del
|
|
|
NC_000009.12:g.(?_92032445)_(92115390_?)dup
|
|
|
NM_006415.4(SPTLC1):c.-1_19del (p.Met1fs)
|
|
|
NM_006415.4(SPTLC1):c.1030del (p.Leu344fs)
|
|
|
NM_006415.4(SPTLC1):c.1035dup (p.Ala346fs)
|
|
|
NM_006415.4(SPTLC1):c.1036G>C (p.Ala346Pro)
|
rs1833545545
|
|
NM_006415.4(SPTLC1):c.1042G>A (p.Ala348Thr)
|
|
|
NM_006415.4(SPTLC1):c.1048A>G (p.Ile350Val)
|
|
|
NM_006415.4(SPTLC1):c.1054G>A (p.Ala352Thr)
|
rs990974255
|
|
NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val)
|
rs267607088
|
|
NM_006415.4(SPTLC1):c.1079C>T (p.Pro360Leu)
|
|
|
NM_006415.4(SPTLC1):c.1081+3A>C
|
rs2118447428
|
|
NM_006415.4(SPTLC1):c.1084A>G (p.Ile362Val)
|
|
|
NM_006415.4(SPTLC1):c.1118_1123del (p.Ile373_His374del)
|
rs2118439056
|
|
NM_006415.4(SPTLC1):c.1137-1G>A
|
rs1833219877
|
|
NM_006415.4(SPTLC1):c.1150A>G (p.Lys384Glu)
|
rs1833218770
|
|
NM_006415.4(SPTLC1):c.1160G>A (p.Gly387Glu)
|
rs119482084
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
NM_006415.4(SPTLC1):c.1163A>T (p.Glu388Val)
|
|
|
NM_006415.4(SPTLC1):c.1199A>G (p.Glu400Gly)
|
rs2118372820
|
|
NM_006415.4(SPTLC1):c.1219C>T (p.Gln407Ter)
|
rs1833214197
|
|
NM_006415.4(SPTLC1):c.122C>G (p.Ser41Cys)
|
|
|
NM_006415.4(SPTLC1):c.1255T>C (p.Cys419Arg)
|
|
|
NM_006415.4(SPTLC1):c.1259T>G (p.Met420Arg)
|
rs376427329
|
|
NM_006415.4(SPTLC1):c.12_14del (p.Thr5del)
|
|
|
NM_006415.4(SPTLC1):c.1301A>C (p.Lys434Thr)
|
|
|
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del)
|
rs777170186
|
|
NM_006415.4(SPTLC1):c.1312T>C (p.Cys438Arg)
|
|
|
NM_006415.4(SPTLC1):c.1319C>T (p.Pro440Leu)
|
|
|
NM_006415.4(SPTLC1):c.131dup (p.Tyr44Ter)
|
rs1836286700
|
|
NM_006415.4(SPTLC1):c.1322C>T (p.Pro441Leu)
|
|
|
NM_006415.4(SPTLC1):c.132C>A (p.Tyr44Ter)
|
|
|
NM_006415.4(SPTLC1):c.1333C>T (p.Arg445Trp)
|
|
|
NM_006415.4(SPTLC1):c.1348G>A (p.Val450Met)
|
|
|
NM_006415.4(SPTLC1):c.1356_1359del (p.Thr453fs)
|
|
|
NM_006415.4(SPTLC1):c.1390A>G (p.Ile464Val)
|
|
|
NM_006415.4(SPTLC1):c.1394A>G (p.Lys465Arg)
|
|
|
NM_006415.4(SPTLC1):c.139del (p.Gln47fs)
|
rs772853294
|
|
NM_006415.4(SPTLC1):c.1403C>T (p.Ala468Val)
|
|
|
NM_006415.4(SPTLC1):c.1422G>A (p.Ter474=)
|
rs1832995665
|
|
NM_006415.4(SPTLC1):c.1422G>C (p.Ter474Tyr)
|
|
|
NM_006415.4(SPTLC1):c.145C>T (p.Arg49Ter)
|
rs995221734
|
|
NM_006415.4(SPTLC1):c.165+5G>A
|
|
|
NM_006415.4(SPTLC1):c.19C>A (p.Gln7Lys)
|
|
|
NM_006415.4(SPTLC1):c.1A>G (p.Met1Val)
|
|
|
NM_006415.4(SPTLC1):c.205C>G (p.Leu69Val)
|
|
|
NM_006415.4(SPTLC1):c.20A>G (p.Gln7Arg)
|
|
|
NM_006415.4(SPTLC1):c.212C>T (p.Pro71Leu)
|
|
|
NM_006415.4(SPTLC1):c.21G>C (p.Gln7His)
|
|
|
NM_006415.4(SPTLC1):c.239T>G (p.Leu80Arg)
|
rs2118826153
|
|
NM_006415.4(SPTLC1):c.251_252dup (p.Val85fs)
|
rs2118826066
|
|
NM_006415.4(SPTLC1):c.260+1G>A
|
|
|
NM_006415.4(SPTLC1):c.280G>A (p.Val94Met)
|
|
|
NM_006415.4(SPTLC1):c.290G>A (p.Gly97Glu)
|
|
|
NM_006415.4(SPTLC1):c.325C>T (p.Leu109Phe)
|
|
|
NM_006415.4(SPTLC1):c.326T>C (p.Leu109Pro)
|
|
|
NM_006415.4(SPTLC1):c.329G>A (p.Gly110Glu)
|
rs1834857269
|
|
NM_006415.4(SPTLC1):c.338A>G (p.Asp113Gly)
|
|
|
NM_006415.4(SPTLC1):c.349G>A (p.Val117Ile)
|
|
|
NM_006415.4(SPTLC1):c.350T>A (p.Val117Asp)
|
|
|
NM_006415.4(SPTLC1):c.355-2del
|
rs2118673753
|
|
NM_006415.4(SPTLC1):c.367G>A (p.Ala123Thr)
|
rs748384890
|
|
NM_006415.4(SPTLC1):c.378G>C (p.Lys126Asn)
|
rs1403894821
|
|
NM_006415.4(SPTLC1):c.383A>G (p.Tyr128Cys)
|
|
|
NM_006415.4(SPTLC1):c.386del (p.Gly129fs)
|
rs1554711394
|
|
NM_006415.4(SPTLC1):c.388G>A (p.Val130Met)
|
rs200773661
|
|
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg)
|
rs1587953587
|
|
NM_006415.4(SPTLC1):c.41T>C (p.Val14Ala)
|
|
|
NM_006415.4(SPTLC1):c.428A>G (p.Asp143Gly)
|
rs764072897
|
|
NM_006415.4(SPTLC1):c.436T>G (p.Leu146Val)
|
rs1834357727
|
|
NM_006415.4(SPTLC1):c.443T>C (p.Leu148Ser)
|
rs1834357241
|
|
NM_006415.4(SPTLC1):c.461A>C (p.Lys154Thr)
|
|
|
NM_006415.4(SPTLC1):c.470A>G (p.Lys157Arg)
|
rs1255312189
|
|
NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser)
|
rs779810169
|
|
NM_006415.4(SPTLC1):c.478G>T (p.Glu160Ter)
|
|
|
NM_006415.4(SPTLC1):c.47C>G (p.Ala16Gly)
|
|
|
NM_006415.4(SPTLC1):c.494C>T (p.Ser165Leu)
|
rs1834354293
|
|
NM_006415.4(SPTLC1):c.496T>C (p.Tyr166His)
|
|
|
NM_006415.4(SPTLC1):c.509C>T (p.Thr170Ile)
|
|
|
NM_006415.4(SPTLC1):c.524T>C (p.Ile175Thr)
|
rs747649997
|
|
NM_006415.4(SPTLC1):c.533A>G (p.Tyr178Cys)
|
|
|
NM_006415.4(SPTLC1):c.547G>A (p.Asp183Asn)
|
|
|
NM_006415.4(SPTLC1):c.560+4A>G
|
|
|
NM_006415.4(SPTLC1):c.632A>G (p.His211Arg)
|
rs1587929348
|
|
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu)
|
rs781435924
|
|
NM_006415.4(SPTLC1):c.649C>G (p.Leu217Val)
|
rs1834002962
|
|
NM_006415.4(SPTLC1):c.652G>A (p.Glu218Lys)
|
rs371402481
|
|
NM_006415.4(SPTLC1):c.655del (p.Arg219fs)
|
|
|
NM_006415.4(SPTLC1):c.667G>T (p.Glu223Ter)
|
rs1834001897
|
|
NM_006415.4(SPTLC1):c.685C>G (p.Gln229Glu)
|
rs865920055
|
|
NM_006415.4(SPTLC1):c.690+1G>A
|
|
|
NM_006415.4(SPTLC1):c.690+6A>T
|
rs1834000589
|
|
NM_006415.4(SPTLC1):c.690G>C (p.Lys230Asn)
|
rs1321207825
|
|
NM_006415.4(SPTLC1):c.691-2A>G
|
|
|
NM_006415.4(SPTLC1):c.695C>T (p.Pro232Leu)
|
|
|
NM_006415.4(SPTLC1):c.698G>A (p.Arg233His)
|
|
|
NM_006415.4(SPTLC1):c.698G>T (p.Arg233Leu)
|
|
|
NM_006415.4(SPTLC1):c.707G>A (p.Arg236His)
|
rs765970732
|
|
NM_006415.4(SPTLC1):c.712A>G (p.Thr238Ala)
|
rs1833857483
|
|
NM_006415.4(SPTLC1):c.716G>A (p.Arg239Gln)
|
|
|
NM_006415.4(SPTLC1):c.719G>A (p.Arg240His)
|
|
|
NM_006415.4(SPTLC1):c.71A>G (p.His24Arg)
|
rs1587626442
|
|
NM_006415.4(SPTLC1):c.731T>C (p.Val244Ala)
|
|
|
NM_006415.4(SPTLC1):c.743A>G (p.Tyr248Cys)
|
|
|
NM_006415.4(SPTLC1):c.795C>G (p.Tyr265Ter)
|
|
|
NM_006415.4(SPTLC1):c.801C>G (p.Tyr267Ter)
|
|
|
NM_006415.4(SPTLC1):c.806C>G (p.Ala269Gly)
|
rs1833654335
|
|
NM_006415.4(SPTLC1):c.811A>C (p.Ile271Leu)
|
rs944769022
|
|
NM_006415.4(SPTLC1):c.813C>G (p.Ile271Met)
|
rs1587918415
|
|
NM_006415.4(SPTLC1):c.832T>G (p.Ser278Ala)
|
|
|
NM_006415.4(SPTLC1):c.833C>T (p.Ser278Leu)
|
|
|
NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter)
|
rs779016234
|
|
NM_006415.4(SPTLC1):c.888+5G>T
|
rs760514210
|
|
NM_006415.4(SPTLC1):c.889-18C>G
|
rs578230561
|
|
NM_006415.4(SPTLC1):c.899T>C (p.Ile300Thr)
|
|
|
NM_006415.4(SPTLC1):c.919A>G (p.Met307Val)
|
rs1554706531
|
|
NM_006415.4(SPTLC1):c.935C>A (p.Ala312Asp)
|
rs2118451537
|
|
NM_006415.4(SPTLC1):c.940A>C (p.Ile314Leu)
|
|
|
NM_006415.4(SPTLC1):c.947G>T (p.Gly316Val)
|
|
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NM_006415.4(SPTLC1):c.952T>A (p.Cys318Ser)
|
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NM_006415.4(SPTLC1):c.964T>C (p.Ser322Pro)
|
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NM_006415.4(SPTLC1):c.970G>A (p.Val324Ile)
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NM_006415.4(SPTLC1):c.983A>T (p.Gln328Leu)
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rs1354356903
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NM_006415.4(SPTLC1):c.984+5del
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NM_006415.4(SPTLC1):c.985-2A>C
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rs2118448499
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NM_006415.4(SPTLC1):c.994G>A (p.Gly332Ser)
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