NM_004863.4(SPTLC2):c.850+34G>A
|
rs45613436
|
0.03385
|
NM_004863.4(SPTLC2):c.1440-30T>G
|
rs140089337
|
0.02105
|
NM_004863.4(SPTLC2):c.1176+98C>T
|
rs117989420
|
0.01026
|
NM_004863.4(SPTLC2):c.1570-219C>G
|
rs76689695
|
0.00928
|
NM_004863.4(SPTLC2):c.1570-107C>T
|
rs113163668
|
0.00861
|
NM_004863.4(SPTLC2):c.956+83A>G
|
rs116670813
|
0.00709
|
NM_004863.4(SPTLC2):c.1304-151A>G
|
rs185132192
|
0.00572
|
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.483-58T>C
|
rs75555387
|
0.00434
|
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.957-44C>G
|
rs113823362
|
0.00023
|
NM_004863.4(SPTLC2):c.1172A>G (p.Lys391Arg)
|
rs114940503
|
0.00022
|
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.414C>T (p.Ile138=)
|
rs1364157223
|
0.00005
|
NM_004863.4(SPTLC2):c.1128G>A (p.Thr376=)
|
rs773806229
|
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.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.1101C>T (p.Pro367=)
|
rs765457530
|
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.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.-38C>T
|
rs375977724
|
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.1080G>A (p.Val360=)
|
rs764651221
|
0.00001
|
NM_004863.4(SPTLC2):c.1284G>A (p.Gly428=)
|
rs756155597
|
0.00001
|
NM_004863.4(SPTLC2):c.1303+9T>G
|
rs757545220
|
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.1377C>A (p.Ile459=)
|
rs772404684
|
0.00001
|
NM_004863.4(SPTLC2):c.1440-5T>G
|
rs556451968
|
0.00001
|
NM_004863.4(SPTLC2):c.1479C>T (p.Val493=)
|
rs373444606
|
0.00001
|
NM_004863.4(SPTLC2):c.1659C>T (p.Asp553=)
|
rs757746741
|
0.00001
|
NM_004863.4(SPTLC2):c.231G>A (p.Gly77=)
|
rs1183868978
|
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.366T>C (p.Tyr122=)
|
rs765827366
|
0.00001
|
NM_004863.4(SPTLC2):c.546A>G (p.Ala182=)
|
rs1158103098
|
0.00001
|
NM_004863.4(SPTLC2):c.548G>A (p.Arg183Gln)
|
rs368865952
|
0.00001
|
NM_004863.4(SPTLC2):c.619C>A (p.Arg207=)
|
rs146066422
|
0.00001
|
NM_004863.4(SPTLC2):c.663G>A (p.Glu221=)
|
rs773007136
|
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+8dup
|
rs769443222
|
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.837C>T (p.Ile279=)
|
rs1197653153
|
0.00001
|
NM_004863.4(SPTLC2):c.874T>C (p.Leu292=)
|
rs996569306
|
0.00001
|
NM_004863.4(SPTLC2):c.900G>A (p.Gln300=)
|
rs571524943
|
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_000014.9:g.77616818C>A
|
rs115432973
|
|
NM_004863.4(SPTLC2):c.*2936_*2938dup
|
rs200856836
|
|
NM_004863.4(SPTLC2):c.*3876GTT[2]
|
rs544851038
|
|
NM_004863.4(SPTLC2):c.*5989dup
|
rs149453307
|
|
NM_004863.4(SPTLC2):c.*6T>C
|
rs73319080
|
|
NM_004863.4(SPTLC2):c.-30G>A
|
rs142320856
|
|
NM_004863.4(SPTLC2):c.-30G>C
|
rs142320856
|
|
NM_004863.4(SPTLC2):c.1017A>G (p.Ala339=)
|
|
|
NM_004863.4(SPTLC2):c.1035G>A (p.Glu345=)
|
rs1566778601
|
|
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.1071G>C (p.Arg357=)
|
rs2079577433
|
|
NM_004863.4(SPTLC2):c.1101C>G (p.Pro367=)
|
|
|
NM_004863.4(SPTLC2):c.1143T>C (p.Phe381=)
|
rs2140020443
|
|
NM_004863.4(SPTLC2):c.1176+14G>A
|
|
|
NM_004863.4(SPTLC2):c.1176+20G>A
|
|
|
NM_004863.4(SPTLC2):c.1176+9G>C
|
|
|
NM_004863.4(SPTLC2):c.1177-14T>C
|
rs2140017795
|
|
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala)
|
rs577862696
|
|
NM_004863.4(SPTLC2):c.126C>T (p.Ala42=)
|
rs2140071567
|
|
NM_004863.4(SPTLC2):c.128G>C (p.Gly43Ala)
|
rs1057521684
|
|
NM_004863.4(SPTLC2):c.1303+10dup
|
rs2140017607
|
|
NM_004863.4(SPTLC2):c.1304-4C>G
|
rs1555373207
|
|
NM_004863.4(SPTLC2):c.1304-4C>T
|
|
|
NM_004863.4(SPTLC2):c.1304-5dup
|
|
|
NM_004863.4(SPTLC2):c.1315G>A (p.Val439Ile)
|
|
|
NM_004863.4(SPTLC2):c.132+10del
|
rs1012404041
|
|
NM_004863.4(SPTLC2):c.132+9G>A
|
rs752336783
|
|
NM_004863.4(SPTLC2):c.1341G>A (p.Arg447=)
|
|
|
NM_004863.4(SPTLC2):c.1362A>G (p.Lys454=)
|
|
|
NM_004863.4(SPTLC2):c.1407G>T (p.Val469=)
|
rs1414279990
|
|
NM_004863.4(SPTLC2):c.1440-10C>T
|
|
|
NM_004863.4(SPTLC2):c.1530T>C (p.Phe510=)
|
|
|
NM_004863.4(SPTLC2):c.1534C>T (p.Leu512=)
|
|
|
NM_004863.4(SPTLC2):c.1542A>G (p.Ala514=)
|
|
|
NM_004863.4(SPTLC2):c.1569+8G>T
|
rs577069180
|
|
NM_004863.4(SPTLC2):c.1570-19T>G
|
|
|
NM_004863.4(SPTLC2):c.1620C>G (p.Ser540=)
|
|
|
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.165T>C (p.Tyr55=)
|
|
|
NM_004863.4(SPTLC2):c.1668G>C (p.Thr556=)
|
rs370209646
|
|
NM_004863.4(SPTLC2):c.180T>C (p.Asn60=)
|
|
|
NM_004863.4(SPTLC2):c.219C>T (p.Leu73=)
|
|
|
NM_004863.4(SPTLC2):c.21C>T (p.Gly7=)
|
|
|
NM_004863.4(SPTLC2):c.252T>C (p.Phe84=)
|
|
|
NM_004863.4(SPTLC2):c.255A>G (p.Gly85=)
|
rs771876630
|
|
NM_004863.4(SPTLC2):c.279T>C (p.Tyr93=)
|
rs2140056169
|
|
NM_004863.4(SPTLC2):c.30C>T (p.Cys10=)
|
|
|
NM_004863.4(SPTLC2):c.318A>G (p.Glu106=)
|
|
|
NM_004863.4(SPTLC2):c.327+10A>T
|
rs1451522717
|
|
NM_004863.4(SPTLC2):c.327+7G>T
|
rs2140056122
|
|
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.423G>T (p.Val141=)
|
|
|
NM_004863.4(SPTLC2):c.435G>T (p.Arg145Ser)
|
|
|
NM_004863.4(SPTLC2):c.438G>A (p.Val146=)
|
rs975574041
|
|
NM_004863.4(SPTLC2):c.444C>T (p.Ile148=)
|
rs369523661
|
|
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.525C>T (p.Ser175=)
|
|
|
NM_004863.4(SPTLC2):c.570A>G (p.Glu190=)
|
|
|
NM_004863.4(SPTLC2):c.597T>C (p.Tyr199=)
|
rs1555376518
|
|
NM_004863.4(SPTLC2):c.609G>A (p.Val203=)
|
|
|
NM_004863.4(SPTLC2):c.631+19T>G
|
|
|
NM_004863.4(SPTLC2):c.632-11T>G
|
|
|
NM_004863.4(SPTLC2):c.632-73_632-69del
|
rs371439273
|
|
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.708C>T (p.Gly236=)
|
rs2140034136
|
|
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.73G>T (p.Val25Leu)
|
|
|
NM_004863.4(SPTLC2):c.757-14del
|
rs776135010
|
|
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser)
|
rs572378641
|
|
NM_004863.4(SPTLC2):c.78G>C (p.Arg26=)
|
|
|
NM_004863.4(SPTLC2):c.816G>C (p.Leu272=)
|
rs1395196394
|
|
NM_004863.4(SPTLC2):c.851-154C>T
|
|
|
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.871C>T (p.Leu291=)
|
rs2140022094
|
|
NM_004863.4(SPTLC2):c.873A>G (p.Leu291=)
|
rs2079588503
|
|
NM_004863.4(SPTLC2):c.876G>A (p.Leu292=)
|
|
|
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.957-18T>C
|
|
|
NM_004863.4(SPTLC2):c.957-28AT[6]
|
rs1046352769
|
|
NM_004863.4(SPTLC2):c.963G>A (p.Glu321=)
|
rs182880965
|
|
NM_004863.4(SPTLC2):c.966A>C (p.Gly322=)
|
rs2140020649
|
|
NM_004863.4(SPTLC2):c.981T>C (p.Leu327=)
|
rs1305800586
|
|