NM_004863.4(SPTLC2):c.*3612T>A
|
rs2364160
|
0.95467
|
NM_004863.4(SPTLC2):c.*4645A>G
|
rs10132095
|
0.95264
|
NM_004863.4(SPTLC2):c.*4673_*4674insTG
|
rs58831828
|
0.83371
|
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=)
|
rs2364602
|
0.83233
|
NM_004863.4(SPTLC2):c.*3524A>C
|
rs1063270
|
0.75189
|
NM_004863.4(SPTLC2):c.*3637G>A
|
rs1063271
|
0.74276
|
NM_004863.4(SPTLC2):c.*2302A>G
|
rs11159269
|
0.73771
|
NM_004863.4(SPTLC2):c.*4446G>T
|
rs11159268
|
0.54169
|
NM_004863.4(SPTLC2):c.*2177A>C
|
rs17824567
|
0.11179
|
NM_004863.4(SPTLC2):c.*2159A>G
|
rs45493395
|
0.11081
|
NM_004863.4(SPTLC2):c.*2702G>A
|
rs10147023
|
0.08565
|
NM_004863.4(SPTLC2):c.*1134T>C
|
rs17751562
|
0.07179
|
NM_004863.4(SPTLC2):c.*5531A>G
|
rs17105886
|
0.06072
|
NM_004863.4(SPTLC2):c.*6080C>G
|
rs56040359
|
0.05057
|
NM_004863.4(SPTLC2):c.*1742C>T
|
rs9323644
|
0.03686
|
NM_004863.4(SPTLC2):c.*4198C>T
|
rs143542715
|
0.02771
|
NM_004863.4(SPTLC2):c.*5358T>C
|
rs8021886
|
0.02770
|
NM_004863.4(SPTLC2):c.*4914C>T
|
rs150007923
|
0.02739
|
NM_004863.4(SPTLC2):c.-43C>T
|
rs7155278
|
0.02570
|
NM_004863.4(SPTLC2):c.*4431G>T
|
rs75823402
|
0.01241
|
NM_004863.4(SPTLC2):c.*4503A>G
|
rs78947178
|
0.01233
|
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=)
|
rs34418677
|
0.01229
|
NM_004863.4(SPTLC2):c.*1014C>T
|
rs116563416
|
0.01210
|
NM_004863.4(SPTLC2):c.*5395C>G
|
rs13430
|
0.01060
|
NM_004863.4(SPTLC2):c.*3224C>T
|
rs77200167
|
0.00956
|
NM_004863.4(SPTLC2):c.*3812C>T
|
rs74730673
|
0.00930
|
NM_004863.4(SPTLC2):c.*1221A>G
|
rs80244932
|
0.00919
|
NM_004863.4(SPTLC2):c.*3034C>G
|
rs75977251
|
0.00919
|
NM_004863.4(SPTLC2):c.*1729G>A
|
rs143610997
|
0.00712
|
NM_004863.4(SPTLC2):c.*4039T>C
|
rs117131683
|
0.00665
|
NM_004863.4(SPTLC2):c.*4276G>A
|
rs116794186
|
0.00575
|
NM_004863.4(SPTLC2):c.*2375C>T
|
rs147416393
|
0.00492
|
NM_004863.4(SPTLC2):c.*3526A>T
|
rs530009301
|
0.00491
|
NM_004863.4(SPTLC2):c.*2699C>A
|
rs142877874
|
0.00475
|
NM_004863.4(SPTLC2):c.*4478C>A
|
rs145218669
|
0.00466
|
NM_004863.4(SPTLC2):c.*1440G>T
|
rs116702345
|
0.00458
|
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)
|
rs138652708
|
0.00454
|
NM_004863.4(SPTLC2):c.*3274C>T
|
rs114274991
|
0.00449
|
NM_004863.4(SPTLC2):c.*397G>T
|
rs140766311
|
0.00442
|
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.*5892C>A
|
rs140576195
|
0.00392
|
NM_004863.4(SPTLC2):c.*2338G>A
|
rs148034053
|
0.00227
|
NM_004863.4(SPTLC2):c.*1709G>A
|
rs146295173
|
0.00220
|
NM_004863.4(SPTLC2):c.*2645C>T
|
rs78577388
|
0.00220
|
NM_004863.4(SPTLC2):c.*2749A>C
|
rs138960830
|
0.00215
|
NM_004863.4(SPTLC2):c.*4131G>A
|
rs45577834
|
0.00151
|
NM_004863.3(SPTLC2):c.-181C>G
|
rs538010560
|
0.00089
|
NM_004863.4(SPTLC2):c.*2966G>A
|
rs369681276
|
0.00061
|
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.*4108G>A
|
rs140701933
|
0.00049
|
NM_004863.4(SPTLC2):c.*4030T>G
|
rs185596488
|
0.00048
|
NM_004863.4(SPTLC2):c.*2794C>T
|
rs191989490
|
0.00046
|
NM_004863.4(SPTLC2):c.*2962C>T
|
rs561137941
|
0.00046
|
NM_004863.4(SPTLC2):c.*3261C>A
|
rs566911644
|
0.00046
|
NM_004863.4(SPTLC2):c.*365A>G
|
rs532673076
|
0.00046
|
NM_004863.4(SPTLC2):c.*3666T>G
|
rs146602683
|
0.00042
|
NM_004863.4(SPTLC2):c.*4842A>C
|
rs538809593
|
0.00036
|
NM_004863.4(SPTLC2):c.*695T>A
|
rs192822567
|
0.00035
|
NM_004863.4(SPTLC2):c.*4115G>T
|
rs542638116
|
0.00034
|
NM_004863.4(SPTLC2):c.*5799C>T
|
rs142817152
|
0.00033
|
NM_004863.4(SPTLC2):c.*1612G>A
|
rs769535377
|
0.00031
|
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=)
|
rs143934634
|
0.00029
|
NM_004863.4(SPTLC2):c.*4825C>T
|
rs193215155
|
0.00028
|
NM_004863.4(SPTLC2):c.*2807C>G
|
rs560223593
|
0.00025
|
NM_004863.3(SPTLC2):c.-160A>G
|
rs886050852
|
0.00024
|
NM_004863.4(SPTLC2):c.851-5T>C
|
rs199867946
|
0.00024
|
NM_004863.4(SPTLC2):c.*4037G>A
|
rs144430502
|
0.00022
|
NM_004863.4(SPTLC2):c.*1457C>T
|
rs542322275
|
0.00021
|
NM_004863.4(SPTLC2):c.*288C>T
|
rs187745450
|
0.00021
|
NM_004863.4(SPTLC2):c.*5357A>G
|
rs139325375
|
0.00018
|
NM_004863.4(SPTLC2):c.*536T>G
|
rs45612439
|
0.00017
|
NM_004863.4(SPTLC2):c.*513C>T
|
rs530076018
|
0.00015
|
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=)
|
rs539265514
|
0.00012
|
NM_004863.4(SPTLC2):c.*3931G>C
|
rs371265800
|
0.00011
|
NM_004863.4(SPTLC2):c.*4107C>T
|
rs991399387
|
0.00011
|
NM_004863.4(SPTLC2):c.*823G>T
|
rs879635428
|
0.00011
|
NM_004863.4(SPTLC2):c.*100G>A
|
rs535135686
|
0.00010
|
NM_004863.4(SPTLC2):c.*2186A>G
|
rs377018367
|
0.00010
|
NM_004863.4(SPTLC2):c.*3315C>G
|
rs886050839
|
0.00010
|
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=)
|
rs773905221
|
0.00010
|
NM_004863.4(SPTLC2):c.*4755C>T
|
rs548820679
|
0.00009
|
NM_004863.4(SPTLC2):c.*542T>C
|
rs758359564
|
0.00008
|
NM_004863.4(SPTLC2):c.*419C>T
|
rs897879528
|
0.00007
|
NM_004863.4(SPTLC2):c.*838G>A
|
rs760436119
|
0.00007
|
NM_004863.4(SPTLC2):c.*1153T>A
|
rs749346501
|
0.00006
|
NM_004863.4(SPTLC2):c.*2622A>C
|
rs762906175
|
0.00006
|
NM_004863.4(SPTLC2):c.*3785G>C
|
rs996810849
|
0.00006
|
NM_004863.4(SPTLC2):c.*4948A>C
|
rs886050832
|
0.00006
|
NM_004863.4(SPTLC2):c.*5852A>G
|
rs753761374
|
0.00006
|
NM_004863.4(SPTLC2):c.-37C>T
|
rs762618185
|
0.00006
|
NM_004863.4(SPTLC2):c.*3809T>C
|
rs1021970499
|
0.00004
|
NM_004863.4(SPTLC2):c.-42A>G
|
rs751107431
|
0.00004
|
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.*1521G>A
|
rs886050846
|
0.00003
|
NM_004863.4(SPTLC2):c.*1622G>A
|
rs1175716506
|
0.00003
|
NM_004863.4(SPTLC2):c.*3396A>G
|
rs886050838
|
0.00003
|
NM_004863.4(SPTLC2):c.*3813G>A
|
rs886050834
|
0.00003
|
NM_004863.4(SPTLC2):c.*697C>G
|
rs187339967
|
0.00003
|
NM_004863.4(SPTLC2):c.*1193G>C
|
rs532533522
|
0.00002
|
NM_004863.4(SPTLC2):c.*6018A>C
|
rs886050830
|
0.00002
|
NM_004863.4(SPTLC2):c.1450C>T (p.Arg484Trp)
|
rs765520235
|
0.00002
|
NM_004863.4(SPTLC2):c.*2275C>T
|
rs886050843
|
0.00001
|
NM_004863.4(SPTLC2):c.*2314C>T
|
rs886050842
|
0.00001
|
NM_004863.4(SPTLC2):c.*2672A>G
|
rs1407394634
|
0.00001
|
NM_004863.4(SPTLC2):c.*3380A>G
|
rs1462623596
|
0.00001
|
NM_004863.4(SPTLC2):c.*3454C>T
|
rs886050837
|
0.00001
|
NM_004863.4(SPTLC2):c.*3457T>C
|
rs886050836
|
0.00001
|
NM_004863.4(SPTLC2):c.*3819C>T
|
rs112133015
|
0.00001
|
NM_004863.4(SPTLC2):c.*5032T>A
|
rs892847100
|
0.00001
|
NM_004863.4(SPTLC2):c.*523C>T
|
rs561128453
|
0.00001
|
NM_004863.4(SPTLC2):c.*5915T>C
|
rs886050831
|
0.00001
|
NM_004863.4(SPTLC2):c.*6253T>C
|
rs370412771
|
0.00001
|
NM_004863.4(SPTLC2):c.407G>A (p.Arg136Gln)
|
rs760762454
|
0.00001
|
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu)
|
rs762005720
|
0.00001
|
NM_004863.3(SPTLC2):c.-187C>T
|
rs554906103
|
|
NM_004863.4(SPTLC2):c.*1077A>T
|
rs149194260
|
|
NM_004863.4(SPTLC2):c.*1185G>C
|
rs917777276
|
|
NM_004863.4(SPTLC2):c.*135C>A
|
rs886050850
|
|
NM_004863.4(SPTLC2):c.*152A>T
|
rs886050849
|
|
NM_004863.4(SPTLC2):c.*1655G>C
|
rs45480297
|
|
NM_004863.4(SPTLC2):c.*1658G>A
|
rs2079327620
|
|
NM_004863.4(SPTLC2):c.*1832T>C
|
rs886050845
|
|
NM_004863.4(SPTLC2):c.*1936A>T
|
rs886050844
|
|
NM_004863.4(SPTLC2):c.*1997T>G
|
rs2079325752
|
|
NM_004863.4(SPTLC2):c.*2716CT[1]
|
rs140918232
|
|
NM_004863.4(SPTLC2):c.*2777G>A
|
rs774328377
|
|
NM_004863.4(SPTLC2):c.*2847T>C
|
rs1340846568
|
|
NM_004863.4(SPTLC2):c.*2910_*2912del
|
rs145606197
|
|
NM_004863.4(SPTLC2):c.*2936_*2938dup
|
rs200856836
|
|
NM_004863.4(SPTLC2):c.*2960C>T
|
rs886050841
|
|
NM_004863.4(SPTLC2):c.*2981del
|
rs545316519
|
|
NM_004863.4(SPTLC2):c.*303G>A
|
rs886050848
|
|
NM_004863.4(SPTLC2):c.*3084A>G
|
rs2079320176
|
|
NM_004863.4(SPTLC2):c.*3286C>T
|
rs2079319191
|
|
NM_004863.4(SPTLC2):c.*3348G>T
|
rs1173264442
|
|
NM_004863.4(SPTLC2):c.*3668G>A
|
rs886050835
|
|
NM_004863.4(SPTLC2):c.*3876GTT[2]
|
rs544851038
|
|
NM_004863.4(SPTLC2):c.*4052G>C
|
rs2079315610
|
|
NM_004863.4(SPTLC2):c.*4089del
|
rs149064904
|
|
NM_004863.4(SPTLC2):c.*4402G>A
|
rs886050833
|
|
NM_004863.4(SPTLC2):c.*4493dup
|
rs145656898
|
|
NM_004863.4(SPTLC2):c.*4682C>A
|
rs2079311832
|
|
NM_004863.4(SPTLC2):c.*4950A>T
|
rs955565700
|
|
NM_004863.4(SPTLC2):c.*5008G>A
|
rs368524988
|
|
NM_004863.4(SPTLC2):c.*5303A>G
|
rs2079308922
|
|
NM_004863.4(SPTLC2):c.*5510C>T
|
rs2079307739
|
|
NM_004863.4(SPTLC2):c.*5989dup
|
rs149453307
|
|
NM_004863.4(SPTLC2):c.*6068C>T
|
rs1566763209
|
|
NM_004863.4(SPTLC2):c.*6169G>T
|
rs2079303694
|
|
NM_004863.4(SPTLC2):c.*6T>G
|
rs73319080
|
|
NM_004863.4(SPTLC2):c.*727C>T
|
rs115976926
|
|
NM_004863.4(SPTLC2):c.*809C>A
|
rs886050847
|
|
NM_004863.4(SPTLC2):c.*946C>A
|
rs752351930
|
|
NM_004863.4(SPTLC2):c.*946C>T
|
rs752351930
|
|
NM_004863.4(SPTLC2):c.-30G>A
|
rs142320856
|
|
NM_004863.4(SPTLC2):c.-30G>T
|
rs142320856
|
|
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala)
|
rs577862696
|
|
NM_004863.4(SPTLC2):c.133-12C>T
|
rs2079853345
|
|
NM_004863.4(SPTLC2):c.1569+8G>T
|
rs577069180
|
|
NM_004863.4(SPTLC2):c.1570-13T>C
|
rs886050851
|
|
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=)
|
rs115191009
|
|
NM_004863.4(SPTLC2):c.620G>T (p.Arg207Leu)
|
rs751801159
|
|
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.761G>C (p.Cys254Ser)
|
rs572378641
|
|