NM_000195.5(HPS1):c.*706C>G
|
rs3830020
|
0.48408
|
NM_000195.5(HPS1):c.*982T>C
|
rs1739
|
0.45933
|
NM_000195.5(HPS1):c.*955A>G
|
rs1737
|
0.45932
|
NM_022081.6(HPS4):c.*1962C>T
|
rs5761533
|
0.44728
|
NM_000195.5(HPS1):c.*324T>C
|
rs1061123
|
0.44036
|
NM_000195.5(HPS1):c.*272C>T
|
rs1061115
|
0.43400
|
NM_000195.5(HPS1):c.*452G>A
|
rs701801
|
0.39309
|
NM_000195.5(HPS1):c.*1167G>A
|
rs1061437
|
0.35147
|
NM_000195.5(HPS1):c.*1217T>C
|
rs3830025
|
0.34581
|
NM_000195.5(HPS1):c.*1215C>T
|
rs3830024
|
0.34580
|
NM_000195.5(HPS1):c.-51C>A
|
rs1804689
|
0.27683
|
NM_000195.5(HPS1):c.636C>T (p.Leu212=)
|
rs1801287
|
0.25851
|
NM_000195.5(HPS1):c.1599-15A>G
|
rs2296435
|
0.21496
|
NM_000195.5(HPS1):c.1397+7G>C
|
rs2296432
|
0.20947
|
NM_000195.5(HPS1):c.1397+8G>T
|
rs2296433
|
0.20935
|
NM_022081.6(HPS4):c.*1233C>T
|
rs770072939
|
0.16771
|
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)
|
rs2296436
|
0.09989
|
NM_000195.5(HPS1):c.297C>T (p.Thr99=)
|
rs11539873
|
0.04930
|
NM_000195.5(HPS1):c.*694C>T
|
rs7075480
|
0.04558
|
NM_000195.5(HPS1):c.987+13T>C
|
rs12571249
|
0.04438
|
NM_000195.5(HPS1):c.*473G>A
|
rs3830019
|
0.04437
|
NM_000195.5(HPS1):c.11T>C (p.Val4Ala)
|
rs58548334
|
0.03653
|
NM_022081.6(HPS4):c.*1250C>T
|
rs7291576
|
0.02974
|
NM_022081.6(HPS4):c.*1227T>C
|
rs7293228
|
0.01801
|
NM_000195.5(HPS1):c.1767G>A (p.Ala589=)
|
rs79218830
|
0.01605
|
NM_000195.5(HPS1):c.159G>A (p.Pro53=)
|
rs78504928
|
0.01348
|
NM_000195.5(HPS1):c.-105-9C>T
|
rs2296429
|
0.01268
|
NM_022081.6(HPS4):c.*1235C>T
|
rs1235169942
|
0.01229
|
NM_000195.5(HPS1):c.*460C>T
|
rs114794063
|
0.01003
|
NM_022081.6(HPS4):c.*1528T>G
|
rs7292764
|
0.00979
|
NM_000195.5(HPS1):c.255+9A>G
|
rs78927693
|
0.00885
|
NM_022081.6(HPS4):c.*2269A>G
|
rs147989849
|
0.00883
|
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys)
|
rs116769827
|
0.00865
|
NM_022081.6(HPS4):c.*477C>T
|
rs76496430
|
0.00851
|
NM_022081.6(HPS4):c.*1207T>C
|
rs534698074
|
0.00842
|
NM_022081.6(HPS4):c.-554C>T
|
rs115916720
|
0.00769
|
NM_022081.6(HPS4):c.*1223T>C
|
rs1367343497
|
0.00724
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
NM_000195.5(HPS1):c.*916G>A
|
rs114082441
|
0.00522
|
NM_022081.6(HPS4):c.*1850G>A
|
rs143168600
|
0.00456
|
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)
|
rs7914192
|
0.00426
|
NM_022081.6(HPS4):c.*1237C>T
|
rs886057305
|
0.00384
|
NM_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_000195.5(HPS1):c.*252C>T
|
rs552596275
|
0.00346
|
NM_000195.5(HPS1):c.*736C>T
|
rs149708847
|
0.00306
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)
|
rs142893758
|
0.00290
|
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)
|
rs78892693
|
0.00257
|
NM_022081.6(HPS4):c.*1687A>G
|
rs3752588
|
0.00207
|
NM_000195.5(HPS1):c.*1326C>A
|
rs146022441
|
0.00195
|
NM_022081.6(HPS4):c.15C>T (p.Thr5=)
|
rs144622501
|
0.00193
|
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)
|
rs147435410
|
0.00184
|
NM_022081.6(HPS4):c.-185A>G
|
rs188205202
|
0.00154
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_000195.5(HPS1):c.*719T>C
|
rs557194861
|
0.00125
|
NM_000195.5(HPS1):c.557C>T (p.Ala186Val)
|
rs1801286
|
0.00125
|
NM_022081.6(HPS4):c.*1253G>A
|
rs534586940
|
0.00121
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
NM_022081.6(HPS4):c.-585T>G
|
rs187762406
|
0.00105
|
NM_022081.6(HPS4):c.888C>T (p.Asn296=)
|
rs138343171
|
0.00086
|
NM_022081.6(HPS4):c.*1387T>A
|
rs3752590
|
0.00082
|
NM_022081.5(HPS4):c.-628C>G
|
rs56821996
|
0.00078
|
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)
|
rs201808262
|
0.00076
|
NM_022081.6(HPS4):c.*769G>A
|
rs187297219
|
0.00071
|
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu)
|
rs142934882
|
0.00068
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
0.00065
|
NM_000195.5(HPS1):c.*943C>T
|
rs558066370
|
0.00059
|
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)
|
rs199965734
|
0.00058
|
NM_022081.6(HPS4):c.-395A>C
|
rs147631281
|
0.00047
|
NM_022081.5(HPS4):c.-661G>T
|
rs753668169
|
0.00045
|
NM_022081.6(HPS4):c.618G>A (p.Pro206=)
|
rs139165558
|
0.00043
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
NM_022081.6(HPS4):c.704A>G (p.His235Arg)
|
rs150166679
|
0.00040
|
NM_000195.5(HPS1):c.700C>T (p.Leu234=)
|
rs150444975
|
0.00039
|
NM_022081.6(HPS4):c.*751G>A
|
rs190837977
|
0.00039
|
NM_000195.5(HPS1):c.1887C>T (p.Pro629=)
|
rs142347792
|
0.00036
|
NM_000195.5(HPS1):c.473G>A (p.Arg158His)
|
rs140480324
|
0.00036
|
NM_022081.6(HPS4):c.*1236G>A
|
rs1356149759
|
0.00035
|
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile)
|
rs146303784
|
0.00033
|
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys)
|
rs145481980
|
0.00030
|
NM_022081.6(HPS4):c.-42A>G
|
rs369803062
|
0.00025
|
NM_000195.5(HPS1):c.-91T>A
|
rs542654066
|
0.00024
|
NM_022081.6(HPS4):c.1192A>C (p.Arg398=)
|
rs375655372
|
0.00023
|
NM_000195.5(HPS1):c.507+13C>T
|
rs371779884
|
0.00022
|
NM_022081.5(HPS4):c.-622G>C
|
rs886057324
|
0.00022
|
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr)
|
rs140732502
|
0.00022
|
NM_022081.6(HPS4):c.-568T>A
|
rs1023210861
|
0.00021
|
NM_022081.6(HPS4):c.133-6C>T
|
rs571184796
|
0.00021
|
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu)
|
rs139107954
|
0.00020
|
NM_022081.6(HPS4):c.1680G>A (p.Pro560=)
|
rs527653764
|
0.00017
|
NM_000195.5(HPS1):c.1286G>A (p.Arg429His)
|
rs201728087
|
0.00015
|
NM_022081.6(HPS4):c.1959T>C (p.Asn653=)
|
rs202120615
|
0.00015
|
NM_000195.5(HPS1):c.366G>A (p.Leu122=)
|
rs147269809
|
0.00014
|
NM_000195.5(HPS1):c.*1005A>G
|
rs186229582
|
0.00013
|
NM_000195.5(HPS1):c.*403G>A
|
rs886046589
|
0.00013
|
NM_000195.5(HPS1):c.-28G>A
|
rs186783129
|
0.00013
|
NM_022081.6(HPS4):c.*1209T>C
|
rs749313648
|
0.00013
|
NM_022081.6(HPS4):c.706+8G>C
|
rs3747131
|
0.00013
|
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
|
rs775570414
|
0.00012
|
NM_022081.6(HPS4):c.*2171C>T
|
rs1013987506
|
0.00011
|
NM_022081.6(HPS4):c.-479+5G>A
|
rs886057322
|
0.00011
|
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys)
|
rs369104384
|
0.00011
|
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)
|
rs150057646
|
0.00011
|
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu)
|
rs143902143
|
0.00010
|
NM_000195.5(HPS1):c.*626C>T
|
rs776700327
|
0.00009
|
NM_000195.5(HPS1):c.179C>T (p.Thr60Met)
|
rs200004304
|
0.00009
|
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys)
|
rs375322422
|
0.00009
|
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp)
|
rs3830014
|
0.00009
|
NM_022081.6(HPS4):c.*469C>T
|
rs959233919
|
0.00009
|
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
|
rs147125175
|
0.00007
|
NM_000195.5(HPS1):c.90C>T (p.Phe30=)
|
rs765362355
|
0.00007
|
NM_022081.6(HPS4):c.*423G>A
|
rs552928725
|
0.00007
|
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)
|
rs764420988
|
0.00006
|
NM_022081.6(HPS4):c.1014C>T (p.Pro338=)
|
rs188300485
|
0.00006
|
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)
|
rs11189601
|
0.00005
|
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn)
|
rs201043011
|
0.00005
|
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)
|
rs373421312
|
0.00005
|
NM_000195.5(HPS1):c.*589G>A
|
rs540367850
|
0.00004
|
NM_000195.5(HPS1):c.*691G>A
|
rs1012331153
|
0.00004
|
NM_000195.5(HPS1):c.204C>T (p.Thr68=)
|
rs149759513
|
0.00004
|
NM_022081.6(HPS4):c.*1359A>T
|
rs886057298
|
0.00004
|
NM_022081.6(HPS4):c.*1576C>T
|
rs886057297
|
0.00004
|
NM_022081.6(HPS4):c.*842G>A
|
rs887874663
|
0.00004
|
NM_022081.6(HPS4):c.*946G>A
|
rs1014910744
|
0.00004
|
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile)
|
rs202222123
|
0.00004
|
NM_022081.6(HPS4):c.570C>T (p.Leu190=)
|
rs201820144
|
0.00004
|
NM_022081.6(HPS4):c.680C>T (p.Thr227Met)
|
rs201806802
|
0.00004
|
NM_000195.5(HPS1):c.*327G>A
|
rs886046590
|
0.00003
|
NM_000195.5(HPS1):c.1239G>T (p.Pro413=)
|
rs777125097
|
0.00003
|
NM_000195.5(HPS1):c.256-4G>A
|
rs372404024
|
0.00003
|
NM_000195.5(HPS1):c.468C>T (p.Tyr156=)
|
rs772192145
|
0.00003
|
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu)
|
rs773953162
|
0.00003
|
NM_022081.6(HPS4):c.*1594G>C
|
rs886057296
|
0.00003
|
NM_022081.6(HPS4):c.*197G>T
|
rs550753111
|
0.00003
|
NM_022081.6(HPS4):c.*369C>T
|
rs886057316
|
0.00003
|
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu)
|
rs778872709
|
0.00003
|
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu)
|
rs746492833
|
0.00003
|
NM_000195.5(HPS1):c.*577C>T
|
rs1455446444
|
0.00002
|
NM_000195.5(HPS1):c.1896C>T (p.Ser632=)
|
rs760508807
|
0.00002
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
NM_022081.6(HPS4):c.*1256C>T
|
rs886057299
|
0.00002
|
NM_022081.6(HPS4):c.*1691G>A
|
rs1405392401
|
0.00002
|
NM_022081.6(HPS4):c.*228A>C
|
rs182700538
|
0.00002
|
NM_022081.6(HPS4):c.1455G>A (p.Thr485=)
|
rs756215705
|
0.00002
|
NM_022081.6(HPS4):c.1641C>T (p.Cys547=)
|
rs199740072
|
0.00002
|
NM_022081.6(HPS4):c.2079C>T (p.Ser693=)
|
rs138189133
|
0.00002
|
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr)
|
rs549798245
|
0.00002
|
NM_022081.6(HPS4):c.877C>G (p.Leu293Val)
|
rs886057317
|
0.00002
|
NM_000195.5(HPS1):c.*1235G>A
|
rs886046584
|
0.00001
|
NM_000195.5(HPS1):c.*451C>G
|
rs1185107542
|
0.00001
|
NM_000195.5(HPS1):c.*635T>C
|
rs886046588
|
0.00001
|
NM_000195.5(HPS1):c.*639G>T
|
rs1025107350
|
0.00001
|
NM_000195.5(HPS1):c.*968G>A
|
rs972778777
|
0.00001
|
NM_000195.5(HPS1):c.-219C>G
|
rs574471533
|
0.00001
|
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp)
|
rs755120094
|
0.00001
|
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=)
|
rs764612179
|
0.00001
|
NM_000195.5(HPS1):c.2037G>A (p.Leu679=)
|
rs773611107
|
0.00001
|
NM_000195.5(HPS1):c.2058G>C (p.Gln686His)
|
rs780183454
|
0.00001
|
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg)
|
rs771121322
|
0.00001
|
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp)
|
rs757374077
|
0.00001
|
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln)
|
rs746626404
|
0.00001
|
NM_022081.6(HPS4):c.*391G>A
|
rs886057315
|
0.00001
|
NM_022081.6(HPS4):c.-18A>G
|
rs1159855728
|
0.00001
|
NM_022081.6(HPS4):c.-523G>T
|
rs886057323
|
0.00001
|
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu)
|
rs777570870
|
0.00001
|
NM_022081.6(HPS4):c.1692C>T (p.Asp564=)
|
rs759632995
|
0.00001
|
NM_022081.6(HPS4):c.1758G>A (p.Leu586=)
|
rs1356334936
|
0.00001
|
NM_022081.6(HPS4):c.411G>A (p.Thr137=)
|
rs375462083
|
0.00001
|
NM_022081.6(HPS4):c.637G>A (p.Val213Ile)
|
rs766791829
|
0.00001
|
NM_022081.6(HPS4):c.687G>A (p.Glu229=)
|
rs758547221
|
0.00001
|
NM_022081.6(HPS4):c.81G>A (p.Lys27=)
|
rs763708665
|
0.00001
|
NM_022081.6(HPS4):c.930T>C (p.Asp310=)
|
rs1210344296
|
0.00001
|
NM_022081.6(HPS4):c.958G>C (p.Asp320His)
|
rs143965829
|
0.00001
|
NM_000195.5(HPS1):c.*1001G>T
|
rs190211350
|
|
NM_000195.5(HPS1):c.*1043C>T
|
rs1844137935
|
|
NM_000195.5(HPS1):c.*1085G>A
|
rs563447772
|
|
NM_000195.5(HPS1):c.*1212T>A
|
rs557906923
|
|
NM_000195.5(HPS1):c.*1249G>A
|
rs886046583
|
|
NM_000195.5(HPS1):c.*766G>T
|
rs886046587
|
|
NM_000195.5(HPS1):c.*768A>G
|
rs886046586
|
|
NM_000195.5(HPS1):c.*952T>G
|
rs886046585
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)
|
rs2296434
|
|
NM_000195.5(HPS1):c.1527C>G (p.Leu509=)
|
rs17109850
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
NM_000195.5(HPS1):c.1647C>T (p.Arg549=)
|
rs886046591
|
|
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys)
|
rs1844278117
|
|
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg)
|
rs554593853
|
|
NM_000195.5(HPS1):c.808G>A (p.Val270Met)
|
rs145364430
|
|
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)
|
rs11592273
|
|
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg)
|
rs886046592
|
|
NM_022081.5(HPS4):c.-634C>T
|
rs886057325
|
|
NM_022081.6(HPS4):c.*1120C>T
|
rs886057312
|
|
NM_022081.6(HPS4):c.*1752C>G
|
rs886057295
|
|
NM_022081.6(HPS4):c.*333C>T
|
rs2085445155
|
|
NM_022081.6(HPS4):c.*515G>C
|
rs886057314
|
|
NM_022081.6(HPS4):c.-116C>T
|
rs886057321
|
|
NM_022081.6(HPS4):c.-281A>G
|
rs1028325475
|
|
NM_022081.6(HPS4):c.-312C>T
|
rs2091338704
|
|
NM_022081.6(HPS4):c.-317G>A
|
rs2091338920
|
|
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr)
|
rs114685298
|
|
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr)
|
rs2091003499
|
|
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu)
|
rs150216540
|
|
NM_022081.6(HPS4):c.177A>C (p.Gly59=)
|
rs886057320
|
|
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile)
|
rs886057319
|
|
NM_022081.6(HPS4):c.706+10G>A
|
rs2088578226
|
|
NM_022081.6(HPS4):c.706+15G>T
|
rs762647750
|
|
NM_022081.6(HPS4):c.727G>A (p.Val243Ile)
|
rs749572804
|
|
NM_022081.6(HPS4):c.741T>A (p.Pro247=)
|
rs35126034
|
|