NM_032383.5(HPS3):c.*135T>C
|
rs375383865
|
0.01150
|
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu)
|
rs149677540
|
0.00276
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_181507.2(HPS5):c.-75A>G
|
rs193106100
|
0.00192
|
NM_000096.4(CP):c.*1081T>A
|
rs188137938
|
0.00174
|
NM_181507.2(HPS5):c.309A>G (p.Glu103=)
|
rs77722090
|
0.00163
|
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)
|
rs17853184
|
0.00144
|
NM_032383.5(HPS3):c.*98A>T
|
rs113951847
|
0.00139
|
NM_181507.2(HPS5):c.2562-14G>C
|
rs199999276
|
0.00107
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
NM_032383.5(HPS3):c.51C>T (p.Pro17=)
|
rs141883346
|
0.00097
|
NM_032383.5(HPS3):c.*96T>A
|
rs879086473
|
0.00060
|
NM_032383.5(HPS3):c.1152C>T (p.His384=)
|
rs113381494
|
0.00060
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
NM_032383.5(HPS3):c.*95A>C
|
rs1013031553
|
0.00045
|
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys)
|
rs529838933
|
0.00039
|
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)
|
rs144990171
|
0.00039
|
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala)
|
rs144099522
|
0.00038
|
NM_181507.2(HPS5):c.986-5C>T
|
rs201439984
|
0.00036
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
NM_032383.5(HPS3):c.2124C>T (p.Gly708=)
|
rs138987987
|
0.00033
|
NM_181507.2(HPS5):c.2721A>G (p.Ser907=)
|
rs139795577
|
0.00032
|
NM_000096.4(CP):c.*373C>G
|
rs370247691
|
0.00029
|
NM_024747.6(HPS6):c.1363T>C (p.Leu455=)
|
rs144777687
|
0.00029
|
NM_181507.2(HPS5):c.1692T>C (p.Pro564=)
|
rs150590027
|
0.00028
|
NM_024747.6(HPS6):c.-5G>A
|
rs376684120
|
0.00027
|
NM_181507.2(HPS5):c.*812A>C
|
rs755078355
|
0.00027
|
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
|
rs138303522
|
0.00026
|
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu)
|
rs371551313
|
0.00026
|
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)
|
rs149039105
|
0.00025
|
NM_024747.6(HPS6):c.1035G>A (p.Arg345=)
|
rs374860183
|
0.00024
|
NM_024747.6(HPS6):c.1039G>A (p.Val347Ile)
|
rs139517839
|
0.00023
|
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val)
|
rs202188533
|
0.00023
|
NM_181507.2(HPS5):c.*95C>A
|
rs776484868
|
0.00023
|
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)
|
rs149564550
|
0.00023
|
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)
|
rs141068948
|
0.00020
|
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala)
|
rs144257610
|
0.00019
|
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met)
|
rs149620802
|
0.00019
|
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=)
|
rs139039126
|
0.00019
|
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)
|
rs376165374
|
0.00016
|
NM_181507.2(HPS5):c.*182C>T
|
rs886048074
|
0.00016
|
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
|
rs142793392
|
0.00015
|
NM_032383.5(HPS3):c.694A>G (p.Ile232Val)
|
rs199722122
|
0.00014
|
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe)
|
rs149512871
|
0.00014
|
NM_024747.6(HPS6):c.2181A>G (p.Ala727=)
|
rs199518658
|
0.00013
|
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu)
|
rs779631326
|
0.00013
|
NM_024747.6(HPS6):c.112C>G (p.Pro38Ala)
|
rs746813506
|
0.00012
|
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)
|
rs147413884
|
0.00012
|
NM_000096.4(CP):c.*572A>G
|
rs561191589
|
0.00011
|
NM_024747.6(HPS6):c.2231G>T (p.Gly744Val)
|
rs770148492
|
0.00010
|
NM_024747.6(HPS6):c.727C>A (p.Pro243Thr)
|
rs767667481
|
0.00010
|
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)
|
rs781373708
|
0.00010
|
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu)
|
rs577273287
|
0.00010
|
NM_181507.2(HPS5):c.-82T>G
|
rs1452519401
|
0.00010
|
NM_181507.2(HPS5):c.1012A>C (p.Asn338His)
|
rs144134556
|
0.00010
|
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)
|
rs754025975
|
0.00009
|
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly)
|
rs147557809
|
0.00009
|
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu)
|
rs140810728
|
0.00009
|
NM_181507.2(HPS5):c.2247A>G (p.Val749=)
|
rs139004989
|
0.00009
|
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)
|
rs763529688
|
0.00008
|
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)
|
rs371346921
|
0.00008
|
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)
|
rs781166596
|
0.00008
|
NM_024747.6(HPS6):c.634G>A (p.Val212Met)
|
rs375789510
|
0.00007
|
NM_032383.5(HPS3):c.2888-1612G>A
|
rs281865096
|
0.00007
|
NM_024747.6(HPS6):c.1152T>C (p.Phe384=)
|
rs200681093
|
0.00006
|
NM_024747.6(HPS6):c.277G>T (p.Val93Leu)
|
rs185571437
|
0.00006
|
NM_032383.5(HPS3):c.159G>T (p.Gln53His)
|
rs774480483
|
0.00006
|
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)
|
rs750402363
|
0.00006
|
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe)
|
rs142090060
|
0.00006
|
NM_181507.2(HPS5):c.285-10A>G
|
rs200449378
|
0.00006
|
NM_000096.4(CP):c.*912C>G
|
rs149920453
|
0.00005
|
NM_032383.5(HPS3):c.-50C>T
|
rs750659280
|
0.00005
|
NM_032383.5(HPS3):c.677A>G (p.His226Arg)
|
rs188661079
|
0.00005
|
NM_181507.2(HPS5):c.*157G>A
|
rs916119305
|
0.00005
|
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu)
|
rs373228021
|
0.00005
|
NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly)
|
rs757589760
|
0.00004
|
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro)
|
rs752370839
|
0.00004
|
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp)
|
rs371986139
|
0.00004
|
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)
|
rs754189788
|
0.00004
|
NM_181507.2(HPS5):c.535G>A (p.Val179Ile)
|
rs373277149
|
0.00004
|
NM_024747.6(HPS6):c.1181T>C (p.Val394Ala)
|
rs146521433
|
0.00003
|
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp)
|
rs781537152
|
0.00003
|
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
|
rs763073715
|
0.00003
|
NM_024747.6(HPS6):c.2112C>T (p.Leu704=)
|
rs764640708
|
0.00003
|
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val)
|
rs773950483
|
0.00003
|
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys)
|
rs199882259
|
0.00003
|
NM_181507.2(HPS5):c.-64A>G
|
rs886048084
|
0.00003
|
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys)
|
rs143073506
|
0.00003
|
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu)
|
rs756408229
|
0.00003
|
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
|
rs139349345
|
0.00003
|
NM_181507.2(HPS5):c.3059-10G>A
|
rs764418389
|
0.00003
|
NM_181507.2(HPS5):c.370C>T (p.Arg124Ter)
|
rs577034676
|
0.00003
|
NM_024747.6(HPS6):c.1417G>A (p.Val473Met)
|
rs542540023
|
0.00002
|
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys)
|
rs749139864
|
0.00002
|
NM_024747.6(HPS6):c.2045G>A (p.Arg682His)
|
rs778873202
|
0.00002
|
NM_032383.5(HPS3):c.1125G>A (p.Gln375=)
|
rs367816094
|
0.00002
|
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile)
|
rs749726836
|
0.00002
|
NM_032383.5(HPS3):c.1509+5T>C
|
rs200117898
|
0.00002
|
NM_181507.2(HPS5):c.1076G>A (p.Arg359His)
|
rs774619545
|
0.00002
|
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)
|
rs747733616
|
0.00002
|
NM_000096.4(CP):c.*343A>G
|
rs886058085
|
0.00001
|
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala)
|
rs755069670
|
0.00001
|
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val)
|
rs762013198
|
0.00001
|
NM_024747.6(HPS6):c.2166C>T (p.Phe722=)
|
rs746069907
|
0.00001
|
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr)
|
rs367872565
|
0.00001
|
NM_024747.6(HPS6):c.2307G>A (p.Pro769=)
|
rs553794194
|
0.00001
|
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val)
|
rs4917959
|
0.00001
|
NM_024747.6(HPS6):c.303C>T (p.Ala101=)
|
rs952447952
|
0.00001
|
NM_024747.6(HPS6):c.831C>G (p.Pro277=)
|
rs1368416172
|
0.00001
|
NM_032383.5(HPS3):c.*239G>A
|
rs886058083
|
0.00001
|
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys)
|
rs771822133
|
0.00001
|
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile)
|
rs886058078
|
0.00001
|
NM_032383.5(HPS3):c.1785A>G (p.Val595=)
|
rs150262900
|
0.00001
|
NM_032383.5(HPS3):c.2078A>G (p.His693Arg)
|
rs759772353
|
0.00001
|
NM_032383.5(HPS3):c.2699G>A (p.Arg900His)
|
rs202157837
|
0.00001
|
NM_032383.5(HPS3):c.571G>A (p.Val191Ile)
|
rs779612018
|
0.00001
|
NM_032383.5(HPS3):c.573T>C (p.Val191=)
|
rs746331416
|
0.00001
|
NM_032383.5(HPS3):c.938A>G (p.His313Arg)
|
rs910569690
|
0.00001
|
NM_181507.1(HPS5):c.-263A>G
|
rs886048086
|
0.00001
|
NM_181507.2(HPS5):c.*1023T>G
|
rs886048069
|
0.00001
|
NM_181507.2(HPS5):c.*276T>G
|
rs146958457
|
0.00001
|
NM_181507.2(HPS5):c.*469A>G
|
rs1858594870
|
0.00001
|
NM_181507.2(HPS5):c.*839T>C
|
rs537810532
|
0.00001
|
NM_181507.2(HPS5):c.-195A>G
|
rs533200717
|
0.00001
|
NM_181507.2(HPS5):c.-197C>T
|
rs886048085
|
0.00001
|
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)
|
rs747748271
|
0.00001
|
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln)
|
rs190883305
|
0.00001
|
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val)
|
rs370396275
|
0.00001
|
NM_181507.2(HPS5):c.1803T>C (p.Thr601=)
|
rs762327635
|
0.00001
|
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile)
|
rs190221223
|
0.00001
|
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)
|
rs564959505
|
0.00001
|
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg)
|
rs763599072
|
0.00001
|
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp)
|
rs775281184
|
0.00001
|
NM_181507.2(HPS5):c.2838-13T>C
|
rs377293025
|
0.00001
|
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met)
|
rs369368194
|
0.00001
|
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr)
|
rs886048075
|
0.00001
|
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)
|
rs773390398
|
0.00001
|
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=)
|
rs868410563
|
0.00001
|
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)
|
rs974587263
|
0.00001
|
NM_181507.2(HPS5):c.755G>A (p.Gly252Glu)
|
rs755846129
|
0.00001
|
NM_000096.4(CP):c.*1007T>A
|
rs36120450
|
|
NM_000096.4(CP):c.*373C>T
|
rs370247691
|
|
NM_000096.4(CP):c.*536G>C
|
rs1725167347
|
|
NM_000096.4(CP):c.*583T>C
|
rs886058084
|
|
NM_024747.6(HPS6):c.1127G>A (p.Arg376His)
|
rs1270858817
|
|
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn)
|
rs886046651
|
|
NM_024747.6(HPS6):c.1241G>A (p.Arg414Gln)
|
|
|
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val)
|
rs201468546
|
|
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)
|
|
|
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)
|
|
|
NM_024747.6(HPS6):c.1360A>G (p.Met454Val)
|
rs769401035
|
|
NM_024747.6(HPS6):c.138G>A (p.Leu46=)
|
rs886046648
|
|
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val)
|
rs765206943
|
|
NM_024747.6(HPS6):c.1692C>A (p.Pro564=)
|
rs147449083
|
|
NM_024747.6(HPS6):c.194C>G (p.Ala65Gly)
|
rs886046649
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)
|
rs544314793
|
|
NM_024747.6(HPS6):c.298C>T (p.Leu100=)
|
rs886046650
|
|
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp)
|
rs766916912
|
|
NM_024747.6(HPS6):c.732A>G (p.Gly244=)
|
rs756521666
|
|
NM_024747.6(HPS6):c.7C>T (p.Arg3Cys)
|
rs975351475
|
|
NM_032383.5(HPS3):c.*138A>T
|
rs1049481742
|
|
NM_032383.5(HPS3):c.*207C>T
|
rs1725097839
|
|
NM_032383.5(HPS3):c.-43C>A
|
rs375227018
|
|
NM_032383.5(HPS3):c.10C>T (p.Leu4=)
|
rs1343390851
|
|
NM_032383.5(HPS3):c.1200G>C (p.Ala400=)
|
rs377368442
|
|
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys)
|
rs143804526
|
|
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro)
|
rs2108112412
|
|
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn)
|
rs2108168208
|
|
NM_032383.5(HPS3):c.2224G>A (p.Val742Met)
|
rs886058079
|
|
NM_032383.5(HPS3):c.2658C>T (p.Asp886=)
|
rs141916243
|
|
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
|
|
|
NM_032383.5(HPS3):c.2887+8G>T
|
rs781312506
|
|
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala)
|
rs922342164
|
|
NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)
|
|
|
NM_032383.5(HPS3):c.323T>C (p.Met108Thr)
|
rs1722344814
|
|
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser)
|
rs1722360673
|
|
NM_032383.5(HPS3):c.827C>G (p.Ser276Cys)
|
|
|
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)
|
rs1722440534
|
|
NM_181507.1(HPS5):c.-251C>T
|
rs4150530
|
|
NM_181507.2(HPS5):c.*1201A>G
|
rs1858510966
|
|
NM_181507.2(HPS5):c.*655A>C
|
rs886048073
|
|
NM_181507.2(HPS5):c.*956T>G
|
rs886048072
|
|
NM_181507.2(HPS5):c.*960T>A
|
rs886048071
|
|
NM_181507.2(HPS5):c.-217G>A
|
rs761585857
|
|
NM_181507.2(HPS5):c.1032C>T (p.His344=)
|
rs1385130088
|
|
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly)
|
rs761598432
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_181507.2(HPS5):c.1479A>G (p.Pro493=)
|
rs886048081
|
|
NM_181507.2(HPS5):c.1510+3G>A
|
rs886048080
|
|
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln)
|
rs770838422
|
|
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg)
|
rs774361456
|
|
NM_181507.2(HPS5):c.1785-9C>A
|
rs886048079
|
|
NM_181507.2(HPS5):c.2058A>G (p.Glu686=)
|
rs1860442520
|
|
NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)
|
|
|
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly)
|
rs886048078
|
|
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
|
|
|
NM_181507.2(HPS5):c.260A>T (p.Asp87Val)
|
rs886048083
|
|
NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr)
|
|
|
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu)
|
rs201664625
|
|
NM_181507.2(HPS5):c.406C>G (p.Leu136Val)
|
rs2134473815
|
|
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro)
|
rs1590156657
|
|
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
|
rs369851648
|
|