NM_004863.4(SPTLC2):c.1196G>A (p.Arg399Gln)
|
rs143757018
|
0.00014
|
NM_004863.4(SPTLC2):c.38C>T (p.Thr13Met)
|
rs745644125
|
0.00011
|
NM_004863.4(SPTLC2):c.1313G>A (p.Cys438Tyr)
|
rs116342919
|
0.00009
|
NM_004863.4(SPTLC2):c.99C>A (p.Ser33Arg)
|
rs763621248
|
0.00008
|
NM_004863.4(SPTLC2):c.1622G>A (p.Arg541His)
|
rs375384785
|
0.00006
|
NM_004863.4(SPTLC2):c.977G>A (p.Arg326His)
|
rs116822112
|
0.00006
|
NM_004863.4(SPTLC2):c.1628G>A (p.Arg543Gln)
|
rs763898397
|
0.00005
|
NM_004863.4(SPTLC2):c.1176+6C>T
|
rs766616688
|
0.00004
|
NM_004863.4(SPTLC2):c.1354C>T (p.Arg452Cys)
|
rs747168398
|
0.00004
|
NM_004863.4(SPTLC2):c.238G>A (p.Val80Ile)
|
rs776997699
|
0.00004
|
NM_004863.4(SPTLC2):c.1226C>T (p.Thr409Met)
|
rs368357970
|
0.00002
|
NM_004863.4(SPTLC2):c.1450C>T (p.Arg484Trp)
|
rs765520235
|
0.00002
|
NM_004863.4(SPTLC2):c.1451G>A (p.Arg484Gln)
|
rs755350573
|
0.00002
|
NM_004863.4(SPTLC2):c.406C>T (p.Arg136Trp)
|
rs116730455
|
0.00002
|
NM_004863.4(SPTLC2):c.842A>G (p.Lys281Arg)
|
rs780031244
|
0.00002
|
NM_004863.4(SPTLC2):c.970A>G (p.Ile324Val)
|
rs1488039133
|
0.00002
|
NM_004863.4(SPTLC2):c.994G>T (p.Ala332Ser)
|
rs767978353
|
0.00002
|
NM_004863.4(SPTLC2):c.1051G>A (p.Ala351Thr)
|
rs773212643
|
0.00001
|
NM_004863.4(SPTLC2):c.1070G>A (p.Arg357Gln)
|
rs375669404
|
0.00001
|
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met)
|
rs267607090
|
0.00001
|
NM_004863.4(SPTLC2):c.109G>T (p.Ala37Ser)
|
rs1245435236
|
0.00001
|
NM_004863.4(SPTLC2):c.1118T>C (p.Met373Thr)
|
rs771962258
|
0.00001
|
NM_004863.4(SPTLC2):c.1127C>T (p.Thr376Met)
|
rs761783981
|
0.00001
|
NM_004863.4(SPTLC2):c.122C>T (p.Ala41Val)
|
rs1397356644
|
0.00001
|
NM_004863.4(SPTLC2):c.1292G>A (p.Gly431Asp)
|
rs746036150
|
0.00001
|
NM_004863.4(SPTLC2):c.12G>T (p.Glu4Asp)
|
rs780139760
|
0.00001
|
NM_004863.4(SPTLC2):c.1312T>C (p.Cys438Arg)
|
rs151141805
|
0.00001
|
NM_004863.4(SPTLC2):c.1355G>A (p.Arg452His)
|
rs1458871280
|
0.00001
|
NM_004863.4(SPTLC2):c.1439+4C>T
|
rs1035407081
|
0.00001
|
NM_004863.4(SPTLC2):c.1439+5G>A
|
rs750011579
|
0.00001
|
NM_004863.4(SPTLC2):c.1447G>T (p.Gly483Ter)
|
rs756812919
|
0.00001
|
NM_004863.4(SPTLC2):c.1569+8G>A
|
rs577069180
|
0.00001
|
NM_004863.4(SPTLC2):c.1621C>T (p.Arg541Cys)
|
rs746495804
|
0.00001
|
NM_004863.4(SPTLC2):c.163T>C (p.Tyr55His)
|
rs1273884598
|
0.00001
|
NM_004863.4(SPTLC2):c.173C>T (p.Pro58Leu)
|
rs371307729
|
0.00001
|
NM_004863.4(SPTLC2):c.178A>G (p.Asn60Asp)
|
rs758420217
|
0.00001
|
NM_004863.4(SPTLC2):c.263G>A (p.Arg88Gln)
|
rs748168089
|
0.00001
|
NM_004863.4(SPTLC2):c.35G>C (p.Arg12Pro)
|
rs963707121
|
0.00001
|
NM_004863.4(SPTLC2):c.415T>C (p.Cys139Arg)
|
rs150036058
|
0.00001
|
NM_004863.4(SPTLC2):c.430G>A (p.Ala144Thr)
|
rs1421233916
|
0.00001
|
NM_004863.4(SPTLC2):c.445A>G (p.Met149Val)
|
rs1309964279
|
0.00001
|
NM_004863.4(SPTLC2):c.44G>A (p.Arg15Gln)
|
rs1164824967
|
0.00001
|
NM_004863.4(SPTLC2):c.460C>A (p.His154Asn)
|
rs1205341271
|
0.00001
|
NM_004863.4(SPTLC2):c.461A>G (p.His154Arg)
|
rs1426663035
|
0.00001
|
NM_004863.4(SPTLC2):c.467A>G (p.Tyr156Cys)
|
rs1271201080
|
0.00001
|
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu)
|
rs762005720
|
0.00001
|
NM_004863.4(SPTLC2):c.511A>G (p.Ile171Val)
|
rs763924228
|
0.00001
|
NM_004863.4(SPTLC2):c.565C>A (p.Gln189Lys)
|
rs1216165779
|
0.00001
|
NM_004863.4(SPTLC2):c.575C>T (p.Ala192Val)
|
rs776071727
|
0.00001
|
NM_004863.4(SPTLC2):c.610T>G (p.Cys204Gly)
|
rs781167120
|
0.00001
|
NM_004863.4(SPTLC2):c.620G>A (p.Arg207Gln)
|
rs751801159
|
0.00001
|
NM_004863.4(SPTLC2):c.701C>T (p.Ala234Val)
|
rs761202531
|
0.00001
|
NM_004863.4(SPTLC2):c.721A>G (p.Thr241Ala)
|
rs781282316
|
0.00001
|
NM_004863.4(SPTLC2):c.737T>C (p.Ile246Thr)
|
rs2079674859
|
0.00001
|
NM_004863.4(SPTLC2):c.756+3A>G
|
rs1033756932
|
0.00001
|
NM_004863.4(SPTLC2):c.760T>C (p.Cys254Arg)
|
rs767182140
|
0.00001
|
NM_004863.4(SPTLC2):c.820G>A (p.Gly274Arg)
|
rs2079619821
|
0.00001
|
NM_004863.4(SPTLC2):c.890T>C (p.Val297Ala)
|
rs370170064
|
0.00001
|
NM_004863.4(SPTLC2):c.905G>A (p.Arg302Gln)
|
rs766660719
|
0.00001
|
NM_004863.4(SPTLC2):c.911G>A (p.Arg304Gln)
|
rs761038205
|
0.00001
|
NC_000014.8:g.(?_77978617)_(77978756_?)del
|
|
|
NC_000014.8:g.(?_77978627)_(77984530_?)del
|
|
|
NC_000014.8:g.(?_77984371)_(77984520_?)del
|
|
|
NC_000014.8:g.(?_78018419)_(78018585_?)del
|
|
|
NC_000014.8:g.(?_78045288)_(78045462_?)dup
|
|
|
NC_000014.9:g.(?_77512274)_(77579119_?)dup
|
|
|
NC_000014.9:g.(?_77616438)_(77616589_?)del
|
|
|
NM_004863.4(SPTLC2):c.1009T>C (p.Tyr337His)
|
rs2079578053
|
|
NM_004863.4(SPTLC2):c.1010A>G (p.Tyr337Cys)
|
rs2140020609
|
|
NM_004863.4(SPTLC2):c.1015G>A (p.Ala339Thr)
|
|
|
NM_004863.4(SPTLC2):c.1019A>G (p.Tyr340Cys)
|
rs2140020594
|
|
NM_004863.4(SPTLC2):c.1032T>G (p.Asp344Glu)
|
rs1555375334
|
|
NM_004863.4(SPTLC2):c.1035G>A (p.Glu345=)
|
rs1566778601
|
|
NM_004863.4(SPTLC2):c.1051G>T (p.Ala351Ser)
|
rs773212643
|
|
NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup)
|
rs577436926
|
|
NM_004863.4(SPTLC2):c.1060C>T (p.Pro354Ser)
|
rs2079577617
|
|
NM_004863.4(SPTLC2):c.1067G>C (p.Gly356Ala)
|
|
|
NM_004863.4(SPTLC2):c.1069C>T (p.Arg357Trp)
|
|
|
NM_004863.4(SPTLC2):c.10G>C (p.Glu4Gln)
|
|
|
NM_004863.4(SPTLC2):c.1106A>G (p.Asp369Gly)
|
|
|
NM_004863.4(SPTLC2):c.1117A>T (p.Met373Leu)
|
|
|
NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg)
|
rs2079576918
|
|
NM_004863.4(SPTLC2):c.1162A>G (p.Ile388Val)
|
rs2079576761
|
|
NM_004863.4(SPTLC2):c.116C>T (p.Ala39Val)
|
rs1360384744
|
|
NM_004863.4(SPTLC2):c.116_127del (p.Ala39_Ala42del)
|
rs759802248
|
|
NM_004863.4(SPTLC2):c.1176+4A>G
|
rs894410400
|
|
NM_004863.4(SPTLC2):c.119CCG[5] (p.Ala41_Ala42dup)
|
rs1555379635
|
|
NM_004863.4(SPTLC2):c.1201C>A (p.His401Asn)
|
|
|
NM_004863.4(SPTLC2):c.1213G>A (p.Ala405Thr)
|
rs2079559039
|
|
NM_004863.4(SPTLC2):c.1226C>A (p.Thr409Lys)
|
rs368357970
|
|
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala)
|
rs577862696
|
|
NM_004863.4(SPTLC2):c.124G>A (p.Ala42Thr)
|
|
|
NM_004863.4(SPTLC2):c.1262C>T (p.Thr421Ile)
|
rs2140017667
|
|
NM_004863.4(SPTLC2):c.1274G>A (p.Cys425Tyr)
|
|
|
NM_004863.4(SPTLC2):c.1288G>C (p.Asp430His)
|
rs2079558586
|
|
NM_004863.4(SPTLC2):c.128G>A (p.Gly43Asp)
|
rs1057521684
|
|
NM_004863.4(SPTLC2):c.1297A>G (p.Ser433Gly)
|
|
|
NM_004863.4(SPTLC2):c.1304-1G>C
|
|
|
NM_004863.4(SPTLC2):c.1304-7T>G
|
|
|
NM_004863.4(SPTLC2):c.1319A>G (p.Gln440Arg)
|
|
|
NM_004863.4(SPTLC2):c.131A>G (p.Gln44Arg)
|
|
|
NM_004863.4(SPTLC2):c.132+5G>T
|
rs1442394746
|
|
NM_004863.4(SPTLC2):c.135C>G (p.Ile45Met)
|
rs1595013409
|
|
NM_004863.4(SPTLC2):c.1378A>G (p.Ile460Val)
|
rs2139994945
|
|
NM_004863.4(SPTLC2):c.13C>T (p.Pro5Ser)
|
rs1473189491
|
|
NM_004863.4(SPTLC2):c.1403_1413del (p.Val468fs)
|
rs2079384603
|
|
NM_004863.4(SPTLC2):c.1411T>G (p.Leu471Val)
|
|
|
NM_004863.4(SPTLC2):c.1423A>G (p.Met475Val)
|
|
|
NM_004863.4(SPTLC2):c.1440C>T (p.Gly480=)
|
|
|
NM_004863.4(SPTLC2):c.1448G>T (p.Gly483Val)
|
|
|
NM_004863.4(SPTLC2):c.1450del (p.Arg484fs)
|
|
|
NM_004863.4(SPTLC2):c.1453G>C (p.Glu485Gln)
|
rs1317731653
|
|
NM_004863.4(SPTLC2):c.1481T>C (p.Val494Ala)
|
rs1555372983
|
|
NM_004863.4(SPTLC2):c.14C>T (p.Pro5Leu)
|
|
|
NM_004863.4(SPTLC2):c.1511T>C (p.Ile504Thr)
|
rs775468865
|
|
NM_004863.4(SPTLC2):c.1541C>T (p.Ala514Val)
|
|
|
NM_004863.4(SPTLC2):c.1543G>A (p.Ala515Thr)
|
rs2079367502
|
|
NM_004863.4(SPTLC2):c.154G>A (p.Gly52Arg)
|
|
|
NM_004863.4(SPTLC2):c.1567A>C (p.Thr523Pro)
|
rs2139992960
|
|
NM_004863.4(SPTLC2):c.1570_1572delinsATC (p.Ala524Ile)
|
rs2079337088
|
|
NM_004863.4(SPTLC2):c.1576A>G (p.Lys526Glu)
|
rs1162872465
|
|
NM_004863.4(SPTLC2):c.1579G>A (p.Glu527Lys)
|
|
|
NM_004863.4(SPTLC2):c.1597G>A (p.Asp533Asn)
|
rs1334152040
|
|
NM_004863.4(SPTLC2):c.161T>C (p.Leu54Pro)
|
|
|
NM_004863.4(SPTLC2):c.1621del (p.Arg541fs)
|
rs2139989157
|
|
NM_004863.4(SPTLC2):c.1627C>T (p.Arg543Trp)
|
|
|
NM_004863.4(SPTLC2):c.1637C>T (p.Pro546Leu)
|
|
|
NM_004863.4(SPTLC2):c.1640T>A (p.Leu547Gln)
|
rs373948802
|
|
NM_004863.4(SPTLC2):c.1667C>T (p.Thr556Met)
|
rs1207958200
|
|
NM_004863.4(SPTLC2):c.166A>G (p.Lys56Glu)
|
rs1251070277
|
|
NM_004863.4(SPTLC2):c.173C>G (p.Pro58Arg)
|
rs371307729
|
|
NM_004863.4(SPTLC2):c.180T>G (p.Asn60Lys)
|
rs769807904
|
|
NM_004863.4(SPTLC2):c.187T>C (p.Phe63Leu)
|
rs2079852842
|
|
NM_004863.4(SPTLC2):c.196_204dup (p.Met68_Leu69insThrProMet)
|
|
|
NM_004863.4(SPTLC2):c.1_23dup (p.Cys8Ter)
|
rs2140071742
|
|
NM_004863.4(SPTLC2):c.202A>T (p.Met68Leu)
|
|
|
NM_004863.4(SPTLC2):c.208G>T (p.Val70Phe)
|
rs2079852647
|
|
NM_004863.4(SPTLC2):c.222_223delinsTA (p.Tyr75Asn)
|
|
|
NM_004863.4(SPTLC2):c.245C>T (p.Thr82Ile)
|
rs1555378043
|
|
NM_004863.4(SPTLC2):c.248T>G (p.Leu83Arg)
|
rs2079852376
|
|
NM_004863.4(SPTLC2):c.255A>G (p.Gly85=)
|
rs771876630
|
|
NM_004863.4(SPTLC2):c.260T>A (p.Leu87His)
|
|
|
NM_004863.4(SPTLC2):c.261del (p.Arg88fs)
|
rs2140056187
|
|
NM_004863.4(SPTLC2):c.278A>G (p.Tyr93Cys)
|
|
|
NM_004863.4(SPTLC2):c.280T>C (p.Trp94Arg)
|
|
|
NM_004863.4(SPTLC2):c.301C>T (p.His101Tyr)
|
rs1595013256
|
|
NM_004863.4(SPTLC2):c.302A>G (p.His101Arg)
|
rs764557377
|
|
NM_004863.4(SPTLC2):c.31CGC[3] (p.Arg12_Thr13insArg)
|
|
|
NM_004863.4(SPTLC2):c.327+5C>G
|
rs1385358452
|
|
NM_004863.4(SPTLC2):c.327G>A (p.Lys109=)
|
|
|
NM_004863.4(SPTLC2):c.350A>G (p.Asp117Gly)
|
rs1595002005
|
|
NM_004863.4(SPTLC2):c.355G>A (p.Glu119Lys)
|
rs1595002000
|
|
NM_004863.4(SPTLC2):c.358A>G (p.Asn120Asp)
|
|
|
NM_004863.4(SPTLC2):c.388A>T (p.Ile130Leu)
|
rs766618928
|
|
NM_004863.4(SPTLC2):c.398A>G (p.Asn133Ser)
|
rs1555376645
|
|
NM_004863.4(SPTLC2):c.404A>G (p.Asn135Ser)
|
|
|
NM_004863.4(SPTLC2):c.418A>G (p.Ser140Gly)
|
rs2079732982
|
|
NM_004863.4(SPTLC2):c.434G>A (p.Arg145Lys)
|
|
|
NM_004863.4(SPTLC2):c.440A>G (p.Asp147Gly)
|
|
|
NM_004863.4(SPTLC2):c.455A>G (p.Gln152Arg)
|
rs2079732655
|
|
NM_004863.4(SPTLC2):c.461A>C (p.His154Pro)
|
|
|
NM_004863.4(SPTLC2):c.463G>A (p.Asp155Asn)
|
rs2140040861
|
|
NM_004863.4(SPTLC2):c.466T>C (p.Tyr156His)
|
rs2079732561
|
|
NM_004863.4(SPTLC2):c.473G>A (p.Trp158Ter)
|
|
|
NM_004863.4(SPTLC2):c.482A>G (p.Lys161Arg)
|
|
|
NM_004863.4(SPTLC2):c.496A>T (p.Ile166Leu)
|
rs1355725205
|
|
NM_004863.4(SPTLC2):c.499A>G (p.Ile167Val)
|
|
|
NM_004863.4(SPTLC2):c.50A>G (p.Asn17Ser)
|
|
|
NM_004863.4(SPTLC2):c.523T>C (p.Ser175Pro)
|
|
|
NM_004863.4(SPTLC2):c.533A>G (p.Tyr178Cys)
|
rs1011016523
|
|
NM_004863.4(SPTLC2):c.538G>C (p.Gly180Arg)
|
rs1250368224
|
|
NM_004863.4(SPTLC2):c.562T>C (p.Cys188Arg)
|
|
|
NM_004863.4(SPTLC2):c.577G>A (p.Ala193Thr)
|
|
|
NM_004863.4(SPTLC2):c.583G>A (p.Val195Ile)
|
rs2079718505
|
|
NM_004863.4(SPTLC2):c.5G>T (p.Arg2Leu)
|
|
|
NM_004863.4(SPTLC2):c.605G>A (p.Gly202Glu)
|
rs749749416
|
|
NM_004863.4(SPTLC2):c.617C>G (p.Thr206Ser)
|
|
|
NM_004863.4(SPTLC2):c.628A>G (p.Ile210Val)
|
rs761533653
|
|
NM_004863.4(SPTLC2):c.630T>C (p.Ile210=)
|
|
|
NM_004863.4(SPTLC2):c.631+4A>C
|
|
|
NM_004863.4(SPTLC2):c.648T>G (p.His216Gln)
|
rs374561654
|
|
NM_004863.4(SPTLC2):c.65A>G (p.Asn22Ser)
|
rs2140071668
|
|
NM_004863.4(SPTLC2):c.661G>C (p.Glu221Gln)
|
|
|
NM_004863.4(SPTLC2):c.675G>T (p.Arg225Ser)
|
rs2079675267
|
|
NM_004863.4(SPTLC2):c.68G>A (p.Gly23Glu)
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rs1474895929
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NM_004863.4(SPTLC2):c.691G>A (p.Ala231Thr)
|
rs2140034164
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NM_004863.4(SPTLC2):c.692C>G (p.Ala231Gly)
|
rs2140034161
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NM_004863.4(SPTLC2):c.702_708del (p.Tyr235fs)
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rs1594996545
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NM_004863.4(SPTLC2):c.70G>C (p.Glu24Gln)
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rs1555379648
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NM_004863.4(SPTLC2):c.722C>T (p.Thr241Met)
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NM_004863.4(SPTLC2):c.730A>G (p.Met244Val)
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NM_004863.4(SPTLC2):c.736A>G (p.Ile246Val)
|
rs2079674880
|
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NM_004863.4(SPTLC2):c.748G>A (p.Val250Ile)
|
rs753752297
|
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NM_004863.4(SPTLC2):c.756+6A>G
|
rs1386326474
|
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NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met)
|
rs879254003
|
|
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)
|
rs2079620247
|
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NM_004863.4(SPTLC2):c.823G>A (p.Ala275Thr)
|
|
|
NM_004863.4(SPTLC2):c.829A>G (p.Ile277Val)
|
rs2079619707
|
|
NM_004863.4(SPTLC2):c.841A>C (p.Lys281Gln)
|
rs2140026532
|
|
NM_004863.4(SPTLC2):c.857A>G (p.Gln286Arg)
|
rs2079588620
|
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NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln)
|
rs1028968270
|
|
NM_004863.4(SPTLC2):c.872T>C (p.Leu291Pro)
|
rs1374794040
|
|
NM_004863.4(SPTLC2):c.88G>A (p.Val30Met)
|
|
|
NM_004863.4(SPTLC2):c.8C>T (p.Pro3Leu)
|
rs2079969474
|
|
NM_004863.4(SPTLC2):c.934A>G (p.Ile312Val)
|
rs2079588117
|
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NM_004863.4(SPTLC2):c.93G>C (p.Arg31Ser)
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|
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NM_004863.4(SPTLC2):c.953A>G (p.Tyr318Cys)
|
rs2079588030
|
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NM_004863.4(SPTLC2):c.956+5T>C
|
|
|
NM_004863.4(SPTLC2):c.958A>G (p.Met320Val)
|
rs1440656780
|
|
NM_004863.4(SPTLC2):c.992T>C (p.Ile331Thr)
|
|
|