NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)
|
rs1894706
|
0.86290
|
NM_022081.6(HPS4):c.1875G>T (p.Gln625His)
|
rs1894704
|
0.86250
|
NM_022081.6(HPS4):c.706+39G>T
|
rs739289
|
0.83516
|
NM_022081.6(HPS4):c.707-28T>C
|
rs3213583
|
0.83408
|
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)
|
rs713998
|
0.81679
|
NM_022081.6(HPS4):c.1654G>A (p.Val552Met)
|
rs5752330
|
0.81665
|
NM_000195.5(HPS1):c.768+64A>G
|
rs2296431
|
0.67902
|
NM_000195.5(HPS1):c.937+192T>C
|
rs1061135
|
0.53604
|
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_022081.6(HPS4):c.1327C>G (p.Leu443Val)
|
rs2014410
|
0.35365
|
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.118-54A>T
|
rs2296430
|
0.33514
|
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.937+88C>T
|
rs34533614
|
0.13757
|
NM_000195.5(HPS1):c.399-35G>A
|
rs11591594
|
0.12488
|
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)
|
rs2296436
|
0.09989
|
NM_000195.5(HPS1):c.1335+48G>A
|
rs41317034
|
0.09953
|
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_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
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.710C>T (p.Ala237Val)
|
rs77597168
|
0.00411
|
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_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
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_000195.5(HPS1):c.80G>A (p.Arg27Gln)
|
rs116143727
|
0.00193
|
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.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
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_000195.5(HPS1):c.1897G>A (p.Asp633Asn)
|
rs150740880
|
0.00049
|
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser)
|
rs116698870
|
0.00049
|
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_000195.5(HPS1):c.15G>C (p.Leu5Phe)
|
rs146695034
|
0.00031
|
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met)
|
rs201076763
|
0.00030
|
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_000195.5(HPS1):c.118-19T>A
|
rs758750874
|
0.00020
|
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.1067A>C (p.Asn356Thr)
|
rs374389539
|
0.00016
|
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.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
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_000195.5(HPS1):c.507+15C>T
|
rs374761960
|
0.00010
|
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.1448G>A (p.Arg483Gln)
|
rs199996900
|
0.00009
|
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val)
|
rs528827909
|
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_000195.5(HPS1):c.760G>A (p.Asp254Asn)
|
rs376078258
|
0.00006
|
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala)
|
rs1055799878
|
0.00006
|
NM_022081.6(HPS4):c.1014C>T (p.Pro338=)
|
rs188300485
|
0.00006
|
NM_022081.6(HPS4):c.384+1G>A
|
rs201334605
|
0.00006
|
NM_000195.5(HPS1):c.1860G>A (p.Gly620=)
|
rs376722018
|
0.00005
|
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln)
|
rs538482143
|
0.00005
|
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)
|
rs11189601
|
0.00005
|
NM_000195.5(HPS1):c.909A>G (p.Pro303=)
|
rs139169204
|
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.1164C>T (p.Ser388=)
|
rs747305546
|
0.00004
|
NM_000195.5(HPS1):c.1341C>G (p.Thr447=)
|
rs990213443
|
0.00004
|
NM_000195.5(HPS1):c.1532+14G>A
|
rs761708348
|
0.00004
|
NM_000195.5(HPS1):c.1977C>T (p.Thr659=)
|
rs751349303
|
0.00004
|
NM_000195.5(HPS1):c.204C>T (p.Thr68=)
|
rs149759513
|
0.00004
|
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr)
|
rs367640909
|
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.649C>T (p.Arg217Ter)
|
rs119471023
|
0.00004
|
NM_022081.6(HPS4):c.680C>T (p.Thr227Met)
|
rs201806802
|
0.00004
|
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)
|
rs281865164
|
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.1533-6C>T
|
rs751468611
|
0.00003
|
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys)
|
rs367656088
|
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.517C>T (p.Arg173Ter)
|
rs538274657
|
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.1050G>T (p.Arg350Ser)
|
rs748998125
|
0.00002
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
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_000195.5(HPS1):c.355del (p.His119fs)
|
rs281865075
|
0.00002
|
NM_000195.5(HPS1):c.398+2T>C
|
rs1486224265
|
0.00002
|
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)
|
rs281865080
|
0.00002
|
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly)
|
rs979661361
|
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.2041G>A (p.Gly681Ser)
|
rs149568178
|
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.1245C>T (p.Pro415=)
|
rs879797527
|
0.00001
|
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu)
|
rs756067445
|
0.00001
|
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter)
|
rs1185127836
|
0.00001
|
NM_000195.5(HPS1):c.1383C>T (p.Pro461=)
|
rs763241171
|
0.00001
|
NM_000195.5(HPS1):c.1398-9C>T
|
rs773047618
|
0.00001
|
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp)
|
rs755120094
|
0.00001
|
NM_000195.5(HPS1):c.1532+13C>T
|
rs202086569
|
0.00001
|
NM_000195.5(HPS1):c.1533-16G>A
|
rs763995634
|
0.00001
|
NM_000195.5(HPS1):c.1545G>A (p.Thr515=)
|
rs141596696
|
0.00001
|
NM_000195.5(HPS1):c.1598+11G>A
|
rs538837544
|
0.00001
|
NM_000195.5(HPS1):c.1744-2A>C
|
rs281865088
|
0.00001
|
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=)
|
rs764612179
|
0.00001
|
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)
|
rs886077189
|
0.00001
|
NM_000195.5(HPS1):c.1858-1G>A
|
rs758797992
|
0.00001
|
NM_000195.5(HPS1):c.1940+2T>C
|
rs972096803
|
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.2086C>T (p.Arg696Cys)
|
rs118116760
|
0.00001
|
NM_000195.5(HPS1):c.2087G>A (p.Arg696His)
|
rs759163020
|
0.00001
|
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg)
|
rs771121322
|
0.00001
|
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr)
|
rs770719820
|
0.00001
|
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)
|
rs281865076
|
0.00001
|
NM_000195.5(HPS1):c.399-5C>T
|
rs765780669
|
0.00001
|
NM_000195.5(HPS1):c.419C>T (p.Ala140Val)
|
rs1243685743
|
0.00001
|
NM_000195.5(HPS1):c.498C>T (p.Phe166=)
|
rs375340317
|
0.00001
|
NM_000195.5(HPS1):c.507+14G>A
|
rs367821874
|
0.00001
|
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp)
|
rs757374077
|
0.00001
|
NM_000195.5(HPS1):c.570C>T (p.His190=)
|
rs1028581867
|
0.00001
|
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln)
|
rs746626404
|
0.00001
|
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)
|
rs745797275
|
0.00001
|
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter)
|
rs1846158787
|
0.00001
|
NM_000195.5(HPS1):c.867+11T>C
|
rs745977366
|
0.00001
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
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.706+1G>A
|
rs374343385
|
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
|
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
|
|
|
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.1065del (p.Asn356fs)
|
|
|
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
|
|
|
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
|
|
|
NM_000195.5(HPS1):c.1090dup (p.Leu364fs)
|
rs2136156603
|
|
NM_000195.5(HPS1):c.1118C>A (p.Pro373His)
|
rs945250747
|
|
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
|
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
|
|
|
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
|
|
|
NM_000195.5(HPS1):c.1239G>A (p.Pro413=)
|
rs777125097
|
|
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs)
|
rs1303126934
|
|
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
|
|
|
NM_000195.5(HPS1):c.1335+1G>A
|
|
|
NM_000195.5(HPS1):c.1375del (p.Ser459fs)
|
rs281865086
|
|
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter)
|
rs786205464
|
|
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
|
|
|
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
|
|
|
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro)
|
rs757853476
|
|
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter)
|
rs552340796
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)
|
rs2296434
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.1473dup (p.Ser492fs)
|
rs1278834481
|
|
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)
|
rs769446880
|
|
NM_000195.5(HPS1):c.1519dup (p.Gln507fs)
|
|
|
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.1533-17C>T
|
rs187227619
|
|
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile)
|
rs2136134351
|
|
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
|
|
|
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
|
rs748106098
|
|
NM_000195.5(HPS1):c.1647C>T (p.Arg549=)
|
rs886046591
|
|
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)
|
rs1591031929
|
|
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu)
|
rs1271147542
|
|
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg)
|
rs372351461
|
|
NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu)
|
rs372351461
|
|
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro)
|
rs1302271283
|
|
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)
|
|
|
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
|
|
|
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
|
|
|
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
|
|
|
NM_000195.5(HPS1):c.1857+1G>A
|
rs2136102397
|
|
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)
|
rs1591120765
|
|
NM_000195.5(HPS1):c.1925del (p.Gly642fs)
|
rs2136083690
|
|
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
|
rs1239621485
|
|
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
|
|
|
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys)
|
rs1844278117
|
|
NM_000195.5(HPS1):c.198G>C (p.Ser66=)
|
rs115265574
|
|
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)
|
rs121908385
|
|
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro)
|
rs1844268357
|
|
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu)
|
rs973290077
|
|
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
|
|
|
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg)
|
rs554593853
|
|
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
|
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
|
|
|
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp)
|
rs376557022
|
|
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)
|
|
|
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter)
|
rs121908386
|
|
NM_000195.5(HPS1):c.398+5G>A
|
rs281865077
|
|
NM_000195.5(HPS1):c.399-14G>A
|
rs1260083432
|
|
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
|
|
|
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)
|
rs1846922474
|
|
NM_000195.5(HPS1):c.507+2T>G
|
rs1591109881
|
|
NM_000195.5(HPS1):c.533del (p.Gln178fs)
|
|
|
NM_000195.5(HPS1):c.54A>G (p.Thr18=)
|
rs531947687
|
|
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
|
|
|
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter)
|
rs747607498
|
|
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
|
|
|
NM_000195.5(HPS1):c.668+1G>A
|
|
|
NM_000195.5(HPS1):c.669-1G>C
|
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000195.5(HPS1):c.689G>A (p.Arg230His)
|
rs377752969
|
|
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu)
|
rs1450596874
|
|
NM_000195.5(HPS1):c.721del (p.Val241fs)
|
|
|
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
|
|
|
NM_000195.5(HPS1):c.780dup (p.Arg261fs)
|
rs2136197089
|
|
NM_000195.5(HPS1):c.807del (p.Val270fs)
|
|
|
NM_000195.5(HPS1):c.808G>A (p.Val270Met)
|
rs145364430
|
|
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer)
|
rs1938751649
|
|
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln)
|
rs374679558
|
|
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
|
|
|
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg)
|
rs11592273
|
|
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)
|
rs11592273
|
|
NM_000195.5(HPS1):c.852del (p.Ser285fs)
|
rs757883936
|
|
NM_000195.5(HPS1):c.875_878del (p.Asp292fs)
|
rs1846105381
|
|
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)
|
|
|
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser)
|
rs962689701
|
|
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys)
|
rs551074257
|
|
NM_000195.5(HPS1):c.962del (p.Gly321fs)
|
rs281865081
|
|
NM_000195.5(HPS1):c.962dup (p.Thr322fs)
|
rs281865081
|
|
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg)
|
rs886046592
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.987+1G>A
|
|
|
NM_000195.5(HPS1):c.988-44_1023delinsT
|
rs1591055649
|
|
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
|
rs750909242
|
|
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.1060_1061delinsAG (p.Ser354=)
|
rs386820399
|
|
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs)
|
rs773968140
|
|
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)
|
|
|
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
NM_022081.6(HPS4):c.1152del (p.Gly385fs)
|
rs2146555632
|
|
NM_022081.6(HPS4):c.1156del (p.His386fs)
|
|
|
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr)
|
rs2091003499
|
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NM_022081.6(HPS4):c.132+1G>A
|
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NM_022081.6(HPS4):c.133-1G>A
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NM_022081.6(HPS4):c.133-2A>G
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NM_022081.6(HPS4):c.133-2A>T
|
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NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)
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NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)
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NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)
|
rs372020804
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NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu)
|
rs150216540
|
|
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
|
|
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NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly)
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NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs)
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NM_022081.6(HPS4):c.177A>C (p.Gly59=)
|
rs886057320
|
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NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)
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NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter)
|
rs119471021
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NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)
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NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs)
|
rs752827715
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NM_022081.6(HPS4):c.2054del (p.Pro685fs)
|
rs2146241760
|
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NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs)
|
rs281865100
|
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NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)
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NM_022081.6(HPS4):c.272T>C (p.Leu91Pro)
|
rs2146925564
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NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)
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|
NM_022081.6(HPS4):c.348dup (p.Asn117Ter)
|
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NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
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NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)
|
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NM_022081.6(HPS4):c.41+1_41+3del
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|
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NM_022081.6(HPS4):c.412G>T (p.Glu138Ter)
|
rs119471024
|
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NM_022081.6(HPS4):c.412del (p.Glu138fs)
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NM_022081.6(HPS4):c.42-2A>C
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NM_022081.6(HPS4):c.42-2A>G
|
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|
NM_022081.6(HPS4):c.430G>T (p.Glu144Ter)
|
|
|
NM_022081.6(HPS4):c.446del (p.Asn149fs)
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|
|
NM_022081.6(HPS4):c.461A>G (p.His154Arg)
|
rs281865098
|
|
NM_022081.6(HPS4):c.47del (p.Asn16fs)
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|
|
NM_022081.6(HPS4):c.502-2A>T
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NM_022081.6(HPS4):c.541C>T (p.Gln181Ter)
|
rs119471022
|
|
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
|
|
|
NM_022081.6(HPS4):c.57del (p.Leu20fs)
|
rs281865097
|
|
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile)
|
rs886057319
|
|
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter)
|
rs119471025
|
|
NM_022081.6(HPS4):c.669+1G>A
|
|
|
NM_022081.6(HPS4):c.673_686del
|
|
|
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
|
|
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)
|
|
|
NM_022081.6(HPS4):c.834_865del (p.Asp278fs)
|
|
|
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)
|
|
|