NM_004863.4(SPTLC2):c.786T>C (p.Asn262=)
|
rs2364602
|
0.83233
|
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=)
|
rs34418677
|
0.01229
|
NM_004863.4(SPTLC2):c.1227G>A (p.Thr409=)
|
rs9323646
|
0.00560
|
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)
|
rs138652708
|
0.00454
|
NM_004863.4(SPTLC2):c.506G>C (p.Gly169Ala)
|
rs75565823
|
0.00430
|
NM_004863.4(SPTLC2):c.1176+7G>A
|
rs74063297
|
0.00399
|
NM_004863.4(SPTLC2):c.1614G>A (p.Lys538=)
|
rs143770506
|
0.00070
|
NM_004863.4(SPTLC2):c.612C>T (p.Cys204=)
|
rs115500562
|
0.00065
|
NM_004863.4(SPTLC2):c.1239T>C (p.Pro413=)
|
rs140041902
|
0.00055
|
NM_004863.4(SPTLC2):c.1449A>T (p.Gly483=)
|
rs149054777
|
0.00051
|
NM_004863.4(SPTLC2):c.1603T>C (p.Leu535=)
|
rs34017190
|
0.00046
|
NM_004863.4(SPTLC2):c.432C>T (p.Ala144=)
|
rs139381733
|
0.00037
|
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=)
|
rs143934634
|
0.00029
|
NM_004863.4(SPTLC2):c.851-5T>C
|
rs199867946
|
0.00024
|
NM_004863.4(SPTLC2):c.1172A>G (p.Lys391Arg)
|
rs114940503
|
0.00022
|
NM_004863.4(SPTLC2):c.957-20A>T
|
rs777105588
|
0.00016
|
NM_004863.4(SPTLC2):c.1196G>A (p.Arg399Gln)
|
rs143757018
|
0.00014
|
NM_004863.4(SPTLC2):c.1569+16C>T
|
rs756795773
|
0.00014
|
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=)
|
rs539265514
|
0.00012
|
NM_004863.4(SPTLC2):c.174G>A (p.Pro58=)
|
rs373828710
|
0.00012
|
NM_004863.4(SPTLC2):c.328-17T>C
|
rs200794836
|
0.00011
|
NM_004863.4(SPTLC2):c.38C>T (p.Thr13Met)
|
rs745644125
|
0.00011
|
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=)
|
rs773905221
|
0.00010
|
NM_004863.4(SPTLC2):c.1304-5T>G
|
rs763217879
|
0.00009
|
NM_004863.4(SPTLC2):c.1313G>A (p.Cys438Tyr)
|
rs116342919
|
0.00009
|
NM_004863.4(SPTLC2):c.1065A>T (p.Thr355=)
|
rs138865310
|
0.00008
|
NM_004863.4(SPTLC2):c.99C>A (p.Ser33Arg)
|
rs763621248
|
0.00008
|
NM_004863.4(SPTLC2):c.1217T>C (p.Val406Ala)
|
rs1024879456
|
0.00006
|
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.414C>T (p.Ile138=)
|
rs1364157223
|
0.00005
|
NM_004863.4(SPTLC2):c.1128G>A (p.Thr376=)
|
rs773806229
|
0.00004
|
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.1470C>T (p.Asn490=)
|
rs374657234
|
0.00004
|
NM_004863.4(SPTLC2):c.1668G>A (p.Thr556=)
|
rs370209646
|
0.00004
|
NM_004863.4(SPTLC2):c.237C>T (p.Gly79=)
|
rs560785142
|
0.00004
|
NM_004863.4(SPTLC2):c.238G>A (p.Val80Ile)
|
rs776997699
|
0.00004
|
NM_004863.4(SPTLC2):c.702G>A (p.Ala234=)
|
rs372032405
|
0.00004
|
NM_004863.4(SPTLC2):c.996C>T (p.Ala332=)
|
rs757660579
|
0.00004
|
NM_004863.4(SPTLC2):c.1062C>A (p.Pro354=)
|
rs764116609
|
0.00003
|
NM_004863.4(SPTLC2):c.222G>A (p.Thr74=)
|
rs763582332
|
0.00003
|
NM_004863.4(SPTLC2):c.73G>C (p.Val25Leu)
|
rs1017782894
|
0.00003
|
NM_004863.4(SPTLC2):c.756+10T>C
|
rs772919286
|
0.00003
|
NM_004863.4(SPTLC2):c.1101C>T (p.Pro367=)
|
rs765457530
|
0.00002
|
NM_004863.4(SPTLC2):c.1226C>T (p.Thr409Met)
|
rs368357970
|
0.00002
|
NM_004863.4(SPTLC2):c.1304-12G>A
|
rs1230441889
|
0.00002
|
NM_004863.4(SPTLC2):c.1304-13C>T
|
rs368131672
|
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.1473C>T (p.Ile491=)
|
rs374308415
|
0.00002
|
NM_004863.4(SPTLC2):c.255A>T (p.Gly85=)
|
rs771876630
|
0.00002
|
NM_004863.4(SPTLC2):c.264A>C (p.Arg88=)
|
rs778242101
|
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.1059C>T (p.Gly353=)
|
rs747649289
|
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.1080G>A (p.Val360=)
|
rs764651221
|
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.1284G>A (p.Gly428=)
|
rs756155597
|
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.1303+9T>G
|
rs757545220
|
0.00001
|
NM_004863.4(SPTLC2):c.1312T>C (p.Cys438Arg)
|
rs151141805
|
0.00001
|
NM_004863.4(SPTLC2):c.1320A>G (p.Gln440=)
|
rs377233305
|
0.00001
|
NM_004863.4(SPTLC2):c.133-13A>G
|
rs762952400
|
0.00001
|
NM_004863.4(SPTLC2):c.1355G>A (p.Arg452His)
|
rs1458871280
|
0.00001
|
NM_004863.4(SPTLC2):c.1377C>A (p.Ile459=)
|
rs772404684
|
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.1440-5T>G
|
rs556451968
|
0.00001
|
NM_004863.4(SPTLC2):c.1447G>T (p.Gly483Ter)
|
rs756812919
|
0.00001
|
NM_004863.4(SPTLC2):c.1479C>T (p.Val493=)
|
rs373444606
|
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.1659C>T (p.Asp553=)
|
rs757746741
|
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.231G>A (p.Gly77=)
|
rs1183868978
|
0.00001
|
NM_004863.4(SPTLC2):c.263G>A (p.Arg88Gln)
|
rs748168089
|
0.00001
|
NM_004863.4(SPTLC2):c.273G>A (p.Leu91=)
|
rs145489962
|
0.00001
|
NM_004863.4(SPTLC2):c.300C>T (p.His100=)
|
rs751864113
|
0.00001
|
NM_004863.4(SPTLC2):c.35G>C (p.Arg12Pro)
|
rs963707121
|
0.00001
|
NM_004863.4(SPTLC2):c.366T>C (p.Tyr122=)
|
rs765827366
|
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.546A>G (p.Ala182=)
|
rs1158103098
|
0.00001
|
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)
|
rs775437084
|
0.00001
|
NM_004863.4(SPTLC2):c.548G>A (p.Arg183Gln)
|
rs368865952
|
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.619C>A (p.Arg207=)
|
rs146066422
|
0.00001
|
NM_004863.4(SPTLC2):c.620G>A (p.Arg207Gln)
|
rs751801159
|
0.00001
|
NM_004863.4(SPTLC2):c.663G>A (p.Glu221=)
|
rs773007136
|
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.747T>C (p.Leu249=)
|
rs148535125
|
0.00001
|
NM_004863.4(SPTLC2):c.756+17T>G
|
rs1057521628
|
0.00001
|
NM_004863.4(SPTLC2):c.756+3A>G
|
rs1033756932
|
0.00001
|
NM_004863.4(SPTLC2):c.756+8dup
|
rs769443222
|
0.00001
|
NM_004863.4(SPTLC2):c.760T>C (p.Cys254Arg)
|
rs767182140
|
0.00001
|
NM_004863.4(SPTLC2):c.819A>G (p.Ser273=)
|
rs747565334
|
0.00001
|
NM_004863.4(SPTLC2):c.81C>T (p.Asn27=)
|
rs751595983
|
0.00001
|
NM_004863.4(SPTLC2):c.820G>A (p.Gly274Arg)
|
rs2079619821
|
0.00001
|
NM_004863.4(SPTLC2):c.837C>T (p.Ile279=)
|
rs1197653153
|
0.00001
|
NM_004863.4(SPTLC2):c.874T>C (p.Leu292=)
|
rs996569306
|
0.00001
|
NM_004863.4(SPTLC2):c.890T>C (p.Val297Ala)
|
rs370170064
|
0.00001
|
NM_004863.4(SPTLC2):c.900G>A (p.Gln300=)
|
rs571524943
|
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
|
NM_004863.4(SPTLC2):c.936C>T (p.Ile312=)
|
rs966096873
|
0.00001
|
NM_004863.4(SPTLC2):c.956+10C>G
|
rs767903051
|
0.00001
|
NM_004863.4(SPTLC2):c.957-7T>C
|
rs1257987991
|
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.1017A>G (p.Ala339=)
|
|
|
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[2] (p.Ala41_Ala42del)
|
rs577436926
|
|
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.1071G>C (p.Arg357=)
|
rs2079577433
|
|
NM_004863.4(SPTLC2):c.10G>C (p.Glu4Gln)
|
|
|
NM_004863.4(SPTLC2):c.1101C>G (p.Pro367=)
|
|
|
NM_004863.4(SPTLC2):c.1106A>G (p.Asp369Gly)
|
|
|
NM_004863.4(SPTLC2):c.1117A>T (p.Met373Leu)
|
|
|
NM_004863.4(SPTLC2):c.1143T>C (p.Phe381=)
|
rs2140020443
|
|
NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg)
|
rs2079576918
|
|
NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val)
|
rs267607089
|
|
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe)
|
rs1594986869
|
|
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+14G>A
|
|
|
NM_004863.4(SPTLC2):c.1176+20G>A
|
|
|
NM_004863.4(SPTLC2):c.1176+4A>G
|
rs894410400
|
|
NM_004863.4(SPTLC2):c.1176+9G>C
|
|
|
NM_004863.4(SPTLC2):c.1177-14T>C
|
rs2140017795
|
|
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.1203T>C (p.His401=)
|
|
|
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.126C>T (p.Ala42=)
|
rs2140071567
|
|
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.1303+10dup
|
rs2140017607
|
|
NM_004863.4(SPTLC2):c.1304-1G>C
|
|
|
NM_004863.4(SPTLC2):c.1304-4C>T
|
|
|
NM_004863.4(SPTLC2):c.1304-5dup
|
|
|
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+10del
|
rs1012404041
|
|
NM_004863.4(SPTLC2):c.132+5G>T
|
rs1442394746
|
|
NM_004863.4(SPTLC2):c.132+9G>A
|
rs752336783
|
|
NM_004863.4(SPTLC2):c.1341G>A (p.Arg447=)
|
|
|
NM_004863.4(SPTLC2):c.135C>G (p.Ile45Met)
|
rs1595013409
|
|
NM_004863.4(SPTLC2):c.1362A>G (p.Lys454=)
|
|
|
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.1407G>T (p.Val469=)
|
rs1414279990
|
|
NM_004863.4(SPTLC2):c.1411T>G (p.Leu471Val)
|
|
|
NM_004863.4(SPTLC2):c.1423A>G (p.Met475Val)
|
|
|
NM_004863.4(SPTLC2):c.1440-10C>T
|
|
|
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.1530T>C (p.Phe510=)
|
|
|
NM_004863.4(SPTLC2):c.1534C>T (p.Leu512=)
|
|
|
NM_004863.4(SPTLC2):c.1541C>T (p.Ala514Val)
|
|
|
NM_004863.4(SPTLC2):c.1542A>G (p.Ala514=)
|
|
|
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.1569+8G>T
|
rs577069180
|
|
NM_004863.4(SPTLC2):c.1570-19T>G
|
|
|
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.1620C>G (p.Ser540=)
|
|
|
NM_004863.4(SPTLC2):c.1621del (p.Arg541fs)
|
rs2139989157
|
|
NM_004863.4(SPTLC2):c.1627C>T (p.Arg543Trp)
|
|
|
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=)
|
rs115191009
|
|
NM_004863.4(SPTLC2):c.162A>G (p.Leu54=)
|
rs115191009
|
|
NM_004863.4(SPTLC2):c.1637C>T (p.Pro546Leu)
|
|
|
NM_004863.4(SPTLC2):c.1640T>A (p.Leu547Gln)
|
rs373948802
|
|
NM_004863.4(SPTLC2):c.165T>C (p.Tyr55=)
|
|
|
NM_004863.4(SPTLC2):c.1667C>T (p.Thr556Met)
|
rs1207958200
|
|
NM_004863.4(SPTLC2):c.1668G>C (p.Thr556=)
|
rs370209646
|
|
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>C (p.Asn60=)
|
|
|
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.219C>T (p.Leu73=)
|
|
|
NM_004863.4(SPTLC2):c.21C>T (p.Gly7=)
|
|
|
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.252T>C (p.Phe84=)
|
|
|
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.279T>C (p.Tyr93=)
|
rs2140056169
|
|
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.30C>T (p.Cys10=)
|
|
|
NM_004863.4(SPTLC2):c.318A>G (p.Glu106=)
|
|
|
NM_004863.4(SPTLC2):c.31CGC[3] (p.Arg12_Thr13insArg)
|
|
|
NM_004863.4(SPTLC2):c.327+10A>T
|
rs1451522717
|
|
NM_004863.4(SPTLC2):c.327+5C>G
|
rs1385358452
|
|
NM_004863.4(SPTLC2):c.327+7G>T
|
rs2140056122
|
|
NM_004863.4(SPTLC2):c.327G>A (p.Lys109=)
|
|
|
NM_004863.4(SPTLC2):c.328-13C>T
|
|
|
NM_004863.4(SPTLC2):c.339A>C (p.Ser113=)
|
rs952500033
|
|
NM_004863.4(SPTLC2):c.33C>T (p.Arg11=)
|
rs2079969142
|
|
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.423G>T (p.Val141=)
|
|
|
NM_004863.4(SPTLC2):c.434G>A (p.Arg145Lys)
|
|
|
NM_004863.4(SPTLC2):c.435G>T (p.Arg145Ser)
|
|
|
NM_004863.4(SPTLC2):c.438G>A (p.Val146=)
|
rs975574041
|
|
NM_004863.4(SPTLC2):c.440A>G (p.Asp147Gly)
|
|
|
NM_004863.4(SPTLC2):c.444C>T (p.Ile148=)
|
rs369523661
|
|
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.483-11T>C
|
|
|
NM_004863.4(SPTLC2):c.483-14C>T
|
|
|
NM_004863.4(SPTLC2):c.483-18T>C
|
|
|
NM_004863.4(SPTLC2):c.483-19T>G
|
|
|
NM_004863.4(SPTLC2):c.483-6G>T
|
rs991080462
|
|
NM_004863.4(SPTLC2):c.483-7T>C
|
|
|
NM_004863.4(SPTLC2):c.486T>C (p.Tyr162=)
|
rs2140039162
|
|
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.525C>T (p.Ser175=)
|
|
|
NM_004863.4(SPTLC2):c.529A>G (p.Asn177Asp)
|
rs1131691917
|
|
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.570A>G (p.Glu190=)
|
|
|
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.609G>A (p.Val203=)
|
|
|
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+19T>G
|
|
|
NM_004863.4(SPTLC2):c.631+4A>C
|
|
|
NM_004863.4(SPTLC2):c.632-11T>G
|
|
|
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.666T>C (p.Leu222=)
|
rs185957601
|
|
NM_004863.4(SPTLC2):c.666T>G (p.Leu222=)
|
rs185957601
|
|
NM_004863.4(SPTLC2):c.675G>T (p.Arg225Ser)
|
rs2079675267
|
|
NM_004863.4(SPTLC2):c.68G>A (p.Gly23Glu)
|
rs1474895929
|
|
NM_004863.4(SPTLC2):c.691G>A (p.Ala231Thr)
|
rs2140034164
|
|
NM_004863.4(SPTLC2):c.692C>G (p.Ala231Gly)
|
rs2140034161
|
|
NM_004863.4(SPTLC2):c.702_708del (p.Tyr235fs)
|
rs1594996545
|
|
NM_004863.4(SPTLC2):c.708C>T (p.Gly236=)
|
rs2140034136
|
|
NM_004863.4(SPTLC2):c.70G>C (p.Glu24Gln)
|
rs1555379648
|
|
NM_004863.4(SPTLC2):c.722C>T (p.Thr241Met)
|
|
|
NM_004863.4(SPTLC2):c.723G>A (p.Thr241=)
|
rs114519796
|
|
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=)
|
rs114519796
|
|
NM_004863.4(SPTLC2):c.730A>G (p.Met244Val)
|
|
|
NM_004863.4(SPTLC2):c.736A>G (p.Ile246Val)
|
rs2079674880
|
|
NM_004863.4(SPTLC2):c.73G>T (p.Val25Leu)
|
|
|
NM_004863.4(SPTLC2):c.748G>A (p.Val250Ile)
|
rs753752297
|
|
NM_004863.4(SPTLC2):c.756+6A>G
|
rs1386326474
|
|
NM_004863.4(SPTLC2):c.757-14del
|
rs776135010
|
|
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser)
|
rs572378641
|
|
NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met)
|
rs879254003
|
|
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)
|
rs2079620247
|
|
NM_004863.4(SPTLC2):c.78G>C (p.Arg26=)
|
|
|
NM_004863.4(SPTLC2):c.816G>C (p.Leu272=)
|
rs1395196394
|
|
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.851-18C>G
|
|
|
NM_004863.4(SPTLC2):c.851-6C>A
|
|
|
NM_004863.4(SPTLC2):c.851-9G>T
|
rs2140022140
|
|
NM_004863.4(SPTLC2):c.857A>G (p.Gln286Arg)
|
rs2079588620
|
|
NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln)
|
rs1028968270
|
|
NM_004863.4(SPTLC2):c.871C>T (p.Leu291=)
|
rs2140022094
|
|
NM_004863.4(SPTLC2):c.872T>C (p.Leu291Pro)
|
rs1374794040
|
|
NM_004863.4(SPTLC2):c.873A>G (p.Leu291=)
|
rs2079588503
|
|
NM_004863.4(SPTLC2):c.876G>A (p.Leu292=)
|
|
|
NM_004863.4(SPTLC2):c.88G>A (p.Val30Met)
|
|
|
NM_004863.4(SPTLC2):c.8C>T (p.Pro3Leu)
|
rs2079969474
|
|
NM_004863.4(SPTLC2):c.909A>C (p.Thr303=)
|
|
|
NM_004863.4(SPTLC2):c.915G>A (p.Arg305=)
|
rs1167129943
|
|
NM_004863.4(SPTLC2):c.933C>T (p.Leu311=)
|
|
|
NM_004863.4(SPTLC2):c.934A>G (p.Ile312Val)
|
rs2079588117
|
|
NM_004863.4(SPTLC2):c.93G>C (p.Arg31Ser)
|
|
|
NM_004863.4(SPTLC2):c.953A>G (p.Tyr318Cys)
|
rs2079588030
|
|
NM_004863.4(SPTLC2):c.956+5T>C
|
|
|
NM_004863.4(SPTLC2):c.957-18T>C
|
|
|
NM_004863.4(SPTLC2):c.957-28AT[6]
|
rs1046352769
|
|
NM_004863.4(SPTLC2):c.958A>G (p.Met320Val)
|
rs1440656780
|
|
NM_004863.4(SPTLC2):c.966A>C (p.Gly322=)
|
rs2140020649
|
|
NM_004863.4(SPTLC2):c.981T>C (p.Leu327=)
|
rs1305800586
|
|
NM_004863.4(SPTLC2):c.992T>C (p.Ile331Thr)
|
|
|