NM_032383.5(HPS3):c.2887+81G>A
|
rs2681096
|
0.98243
|
NM_181507.2(HPS5):c.822C>A (p.Leu274=)
|
rs1140047
|
0.72384
|
NM_032383.5(HPS3):c.1692-192T>G
|
rs772903
|
0.70831
|
NM_032383.5(HPS3):c.1164-139A>C
|
rs2254913
|
0.69958
|
NM_181507.2(HPS5):c.1511-30G>A
|
rs2305565
|
0.58312
|
NM_032383.5(HPS3):c.1494G>A (p.Gln498=)
|
rs6440589
|
0.50726
|
NM_032383.5(HPS3):c.2796+50C>T
|
rs2681092
|
0.46501
|
NM_032383.5(HPS3):c.2107-57A>G
|
rs61615092
|
0.44604
|
NM_181507.2(HPS5):c.*464C>A
|
rs1046611
|
0.35745
|
NM_181507.2(HPS5):c.*475C>T
|
rs1046615
|
0.33956
|
NM_181507.2(HPS5):c.*299C>T
|
rs12419588
|
0.33793
|
NM_181507.2(HPS5):c.*300T>C
|
rs12416821
|
0.33782
|
NM_032383.5(HPS3):c.1163+62T>G
|
rs11715291
|
0.28038
|
NM_032383.5(HPS3):c.981A>G (p.Thr327=)
|
rs11718908
|
0.28006
|
NM_181507.2(HPS5):c.3058+9A>G
|
rs2049129
|
0.20713
|
NM_024747.6(HPS6):c.*178T>G
|
rs3816
|
0.19913
|
NM_000096.4(CP):c.*769G>A
|
rs1053669
|
0.19723
|
NM_032383.5(HPS3):c.2107-52A>G
|
rs57943258
|
0.17569
|
NM_032383.5(HPS3):c.1164-25C>T
|
rs2689232
|
0.17519
|
NM_181507.2(HPS5):c.*804C>T
|
rs1046628
|
0.17195
|
NM_032383.5(HPS3):c.2526C>T (p.His842=)
|
rs3732557
|
0.15600
|
NM_181507.2(HPS5):c.1165-15C>A
|
rs7128146
|
0.13983
|
NM_181507.1(HPS5):c.-251C>A
|
rs4150530
|
0.13814
|
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met)
|
rs7128017
|
0.13791
|
NM_032383.5(HPS3):c.*172G>A
|
rs34511277
|
0.11672
|
NM_032383.5(HPS3):c.*128A>G
|
rs73019023
|
0.11195
|
NM_024747.6(HPS6):c.516G>A (p.Gly172=)
|
rs3737243
|
0.07919
|
NM_032383.5(HPS3):c.1479G>A (p.Thr493=)
|
rs34197730
|
0.03245
|
NM_181507.2(HPS5):c.*1068T>A
|
rs112456564
|
0.02934
|
NM_181507.2(HPS5):c.*443T>A
|
rs74602396
|
0.02922
|
NM_032383.5(HPS3):c.970+7A>G
|
rs114029765
|
0.02580
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
NM_000096.4(CP):c.*1157C>T
|
rs11537809
|
0.02347
|
NM_032383.5(HPS3):c.-70T>C
|
rs13089410
|
0.02214
|
NM_181507.2(HPS5):c.1785-13C>T
|
rs73430857
|
0.02128
|
NM_181507.2(HPS5):c.139T>C (p.Leu47=)
|
rs73432728
|
0.02127
|
NM_181507.2(HPS5):c.*702A>T
|
rs79086536
|
0.01805
|
NM_000096.4(CP):c.*768T>C
|
rs35805816
|
0.01348
|
NM_032383.5(HPS3):c.*135T>C
|
rs375383865
|
0.01150
|
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)
|
rs78336249
|
0.01058
|
NM_024747.6(HPS6):c.1764G>A (p.Gln588=)
|
rs145597717
|
0.00963
|
NM_181507.2(HPS5):c.-142C>T
|
rs4150528
|
0.00903
|
NM_000096.4(CP):c.*509A>C
|
rs13098532
|
0.00867
|
NM_000096.4(CP):c.*879A>C
|
rs144029944
|
0.00863
|
NM_032383.5(HPS3):c.*170C>T
|
rs182666670
|
0.00795
|
NM_181507.1(HPS5):c.-250G>T
|
rs4150529
|
0.00728
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg)
|
rs36078476
|
0.00592
|
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)
|
rs34388030
|
0.00590
|
NM_000096.4(CP):c.*474T>C
|
rs34936395
|
0.00559
|
NM_181507.2(HPS5):c.-91C>G
|
rs4150527
|
0.00513
|
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)
|
rs61755718
|
0.00512
|
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val)
|
rs149640235
|
0.00498
|
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)
|
rs143784823
|
0.00417
|
NM_000096.4(CP):c.*259C>T
|
rs192321084
|
0.00414
|
NM_024747.6(HPS6):c.398C>T (p.Ala133Val)
|
rs199816481
|
0.00315
|
NM_181507.2(HPS5):c.345G>A (p.Met115Ile)
|
rs149229493
|
0.00309
|
NM_032383.5(HPS3):c.2055G>A (p.Leu685=)
|
rs140443498
|
0.00300
|
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)
|
rs144875223
|
0.00297
|
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu)
|
rs149677540
|
0.00276
|
NM_024747.6(HPS6):c.99A>G (p.Arg33=)
|
rs139591041
|
0.00234
|
NM_024747.6(HPS6):c.1779G>A (p.Pro593=)
|
rs77529785
|
0.00228
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_181507.2(HPS5):c.-75A>G
|
rs193106100
|
0.00192
|
NM_181507.2(HPS5):c.1635-4C>G
|
rs79009787
|
0.00184
|
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)
|
rs200584437
|
0.00183
|
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_181507.2(HPS5):c.*70C>T
|
rs371535842
|
0.00087
|
NM_024747.6(HPS6):c.1692C>T (p.Pro564=)
|
rs147449083
|
0.00070
|
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.3229C>T (p.Arg1077Trp)
|
rs75482179
|
0.00056
|
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_032383.5(HPS3):c.158A>G (p.Gln53Arg)
|
rs199663930
|
0.00036
|
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_032383.5(HPS3):c.2196C>T (p.His732=)
|
rs148398659
|
0.00028
|
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_032383.5(HPS3):c.1821C>G (p.Ile607Met)
|
rs148168280
|
0.00024
|
NM_181507.2(HPS5):c.*688A>G
|
rs145507598
|
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_181507.2(HPS5):c.*362G>A
|
rs148862838
|
0.00021
|
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.1900G>A (p.Glu634Lys)
|
rs143204089
|
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.1711C>T (p.His571Tyr)
|
rs142027515
|
0.00014
|
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.2469A>G (p.Thr823=)
|
rs370137287
|
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.1228A>G (p.Met410Val)
|
rs756295432
|
0.00008
|
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.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
NM_032383.5(HPS3):c.2888-1612G>A
|
rs281865096
|
0.00007
|
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
|
rs200704721
|
0.00007
|
NM_024747.6(HPS6):c.1152T>C (p.Phe384=)
|
rs200681093
|
0.00006
|
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
|
rs373272114
|
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.240C>T (p.Val80=)
|
rs138423875
|
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.1163+1G>A
|
rs201227603
|
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.1509G>A (p.Met503Ile)
|
rs780183200
|
0.00003
|
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter)
|
rs755841847
|
0.00003
|
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys)
|
rs199882259
|
0.00003
|
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
|
rs200079039
|
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.1999C>T (p.Arg667Ter)
|
rs373272174
|
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_032383.5(HPS3):c.2527G>A (p.Val843Ile)
|
rs150765088
|
0.00002
|
NM_032383.5(HPS3):c.2589+1G>T
|
rs281865095
|
0.00002
|
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)
|
rs543058717
|
0.00002
|
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter)
|
rs752837159
|
0.00002
|
NM_181507.2(HPS5):c.1076G>A (p.Arg359His)
|
rs774619545
|
0.00002
|
NM_181507.2(HPS5):c.1862+1G>A
|
rs778500897
|
0.00002
|
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)
|
rs747733616
|
0.00002
|
NM_181507.2(HPS5):c.543del (p.Gln181fs)
|
rs755827664
|
0.00002
|
NM_000096.4(CP):c.*343A>G
|
rs886058085
|
0.00001
|
NM_024747.6(HPS6):c.105T>C (p.Arg35=)
|
rs573488604
|
0.00001
|
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter)
|
rs281865112
|
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.1819C>T (p.Arg607Ter)
|
rs377169467
|
0.00001
|
NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter)
|
rs1131692333
|
0.00001
|
NM_024747.6(HPS6):c.2166C>T (p.Phe722=)
|
rs746069907
|
0.00001
|
NM_024747.6(HPS6):c.223C>T (p.Gln75Ter)
|
rs281865107
|
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.466_475dup (p.Phe159fs)
|
rs1462863412
|
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.1189C>T (p.Arg397Trp)
|
rs121908316
|
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.1838C>G (p.Ser613Ter)
|
rs755083879
|
0.00001
|
NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter)
|
rs1488175163
|
0.00001
|
NM_032383.5(HPS3):c.2078A>G (p.His693Arg)
|
rs759772353
|
0.00001
|
NM_032383.5(HPS3):c.2292+1G>A
|
rs755724489
|
0.00001
|
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)
|
rs369855073
|
0.00001
|
NM_032383.5(HPS3):c.2482-2A>G
|
rs397507168
|
0.00001
|
NM_032383.5(HPS3):c.2589+2T>C
|
rs1411572278
|
0.00001
|
NM_032383.5(HPS3):c.2699G>A (p.Arg900His)
|
rs202157837
|
0.00001
|
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)
|
rs765169755
|
0.00001
|
NM_032383.5(HPS3):c.2796+2T>C
|
rs1476066527
|
0.00001
|
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)
|
rs1170514296
|
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.728_729insA (p.Ser244fs)
|
rs760577035
|
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.1037A>G (p.Asn346Ser)
|
rs547880287
|
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.2593C>T (p.Arg865Ter)
|
rs281865104
|
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.719G>C (p.Arg240Pro)
|
rs764296457
|
0.00001
|
NM_181507.2(HPS5):c.755G>A (p.Gly252Glu)
|
rs755846129
|
0.00001
|
11p15.1 deletion
|
|
|
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.1030G>T (p.Glu344Ter)
|
rs2067971306
|
|
NM_024747.6(HPS6):c.1065dup (p.Leu356fs)
|
rs1564899492
|
|
NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs)
|
rs281865111
|
|
NM_024747.6(HPS6):c.1127G>A (p.Arg376His)
|
rs1270858817
|
|
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)
|
|
|
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn)
|
rs886046651
|
|
NM_024747.6(HPS6):c.1228_1252del (p.Tyr410fs)
|
rs760452661
|
|
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.1411C>T (p.Gln471Ter)
|
rs1590263662
|
|
NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)
|
|
|
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.1693T>G (p.Phe565Val)
|
rs1554903728
|
|
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)
|
rs1220869113
|
|
NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs)
|
rs281865113
|
|
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)
|
rs940319528
|
|
NM_024747.6(HPS6):c.1789del (p.Ala597fs)
|
|
|
NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs)
|
rs281865114
|
|
NM_024747.6(HPS6):c.1898del (p.Pro633fs)
|
rs1131692332
|
|
NM_024747.6(HPS6):c.194C>G (p.Ala65Gly)
|
rs886046649
|
|
NM_024747.6(HPS6):c.19_20del (p.Leu7fs)
|
rs1590262288
|
|
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)
|
rs2136333791
|
|
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.335G>A (p.Trp112Ter)
|
rs2067964057
|
|
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp)
|
rs766916912
|
|
NM_024747.6(HPS6):c.444C>G (p.Ala148=)
|
rs533784966
|
|
NM_024747.6(HPS6):c.732A>G (p.Gly244=)
|
rs756521666
|
|
NM_024747.6(HPS6):c.7C>T (p.Arg3Cys)
|
rs975351475
|
|
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile)
|
rs281865109
|
|
NM_024747.6(HPS6):c.877C>T (p.Gln293Ter)
|
|
|
NM_024747.6(HPS6):c.913C>T (p.Gln305Ter)
|
rs281865110
|
|
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.0_217+692del
|
|
|
NM_032383.5(HPS3):c.1055del (p.Gly352fs)
|
|
|
NM_032383.5(HPS3):c.10C>T (p.Leu4=)
|
rs1343390851
|
|
NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)
|
|
|
NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)
|
|
|
NM_032383.5(HPS3):c.1150_1153del (p.His384fs)
|
|
|
NM_032383.5(HPS3):c.1175del (p.Gln392fs)
|
|
|
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs)
|
rs1309602954
|
|
NM_032383.5(HPS3):c.1200G>C (p.Ala400=)
|
rs377368442
|
|
NM_032383.5(HPS3):c.1231dup (p.Asp411fs)
|
|
|
NM_032383.5(HPS3):c.1246-2A>T
|
rs1282659169
|
|
NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs)
|
|
|
NM_032383.5(HPS3):c.1246dup
|
|
|
NM_032383.5(HPS3):c.1249del (p.Cys417fs)
|
|
|
NM_032383.5(HPS3):c.1275T>A (p.Cys425Ter)
|
|
|
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
|
|
|
NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter)
|
rs1330496818
|
|
NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)
|
|
|
NM_032383.5(HPS3):c.1509+1G>A
|
rs746906314
|
|
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer)
|
rs756611897
|
|
NM_032383.5(HPS3):c.1561del (p.Leu521fs)
|
rs2108158577
|
|
NM_032383.5(HPS3):c.157del (p.Gln53fs)
|
|
|
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)
|
rs753185316
|
|
NM_032383.5(HPS3):c.1627G>T (p.Glu543Ter)
|
|
|
NM_032383.5(HPS3):c.1660del (p.Ser554fs)
|
|
|
NM_032383.5(HPS3):c.1678del (p.Asp560fs)
|
|
|
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs)
|
rs778152054
|
|
NM_032383.5(HPS3):c.1685_1686delinsT (p.Tyr562fs)
|
|
|
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter)
|
rs1292407171
|
|
NM_032383.5(HPS3):c.1691+2T>G
|
rs281865093
|
|
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)
|
rs1723609962
|
|
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter)
|
rs1576687466
|
|
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys)
|
rs143804526
|
|
NM_032383.5(HPS3):c.1814del (p.Gly605fs)
|
|
|
NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)
|
|
|
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro)
|
rs2108112412
|
|
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer)
|
rs1363245838
|
|
NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs)
|
rs749632423
|
|
NM_032383.5(HPS3):c.1873-1G>A
|
|
|
NM_032383.5(HPS3):c.2038A>T (p.Lys680Ter)
|
|
|
NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)
|
|
|
NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter)
|
|
|
NM_032383.5(HPS3):c.2086_2093del (p.Glu696fs)
|
|
|
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs)
|
rs1032570128
|
|
NM_032383.5(HPS3):c.2106+1G>T
|
|
|
NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)
|
|
|
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn)
|
rs2108168208
|
|
NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)
|
|
|
NM_032383.5(HPS3):c.217+2T>G
|
rs1286892626
|
|
NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)
|
|
|
NM_032383.5(HPS3):c.2194dup (p.His732fs)
|
|
|
NM_032383.5(HPS3):c.219del (p.Asp74fs)
|
|
|
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs)
|
rs745457191
|
|
NM_032383.5(HPS3):c.2209C>T (p.Gln737Ter)
|
|
|
NM_032383.5(HPS3):c.2224G>A (p.Val742Met)
|
rs886058079
|
|
NM_032383.5(HPS3):c.2287_2289delinsA (p.Phe763fs)
|
|
|
NM_032383.5(HPS3):c.2289del (p.Phe763fs)
|
|
|
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs)
|
rs868868714
|
|
NM_032383.5(HPS3):c.2380del (p.Val794fs)
|
|
|
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter)
|
|
|
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)
|
|
|
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)
|
|
|
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)
|
rs1576695913
|
|
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter)
|
rs373037058
|
|
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
|
|
|
NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs)
|
|
|
NM_032383.5(HPS3):c.249_252del (p.Asn83fs)
|
rs770108122
|
|
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter)
|
|
|
NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs)
|
|
|
NM_032383.5(HPS3):c.2525_2526del (p.His842fs)
|
|
|
NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs)
|
|
|
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter)
|
rs2108173648
|
|
NM_032383.5(HPS3):c.2589+1G>C
|
rs281865095
|
|
NM_032383.5(HPS3):c.2650del (p.Ser884fs)
|
|
|
NM_032383.5(HPS3):c.2658C>T (p.Asp886=)
|
rs141916243
|
|
NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter)
|
|
|
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)
|
rs1277509410
|
|
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
|
|
|
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)
|
|
|
NM_032383.5(HPS3):c.2796+1del
|
rs2108184819
|
|
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)
|
|
|
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)
|
|
|
NM_032383.5(HPS3):c.2887+1G>A
|
|
|
NM_032383.5(HPS3):c.2887+8G>T
|
rs781312506
|
|
NM_032383.5(HPS3):c.288_289del (p.Asn96fs)
|
|
|
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.324dup (p.Ile109fs)
|
|
|
NM_032383.5(HPS3):c.325_328del (p.Ile109fs)
|
|
|
NM_032383.5(HPS3):c.356_357del (p.Lys119fs)
|
|
|
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter)
|
rs1466073004
|
|
NM_032383.5(HPS3):c.371del (p.Gln124fs)
|
|
|
NM_032383.5(HPS3):c.403del (p.Ala135fs)
|
rs748883997
|
|
NM_032383.5(HPS3):c.423T>A (p.Cys141Ter)
|
|
|
NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)
|
|
|
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser)
|
rs1722360673
|
|
NM_032383.5(HPS3):c.505delinsAAGCAT (p.Glu169fs)
|
|
|
NM_032383.5(HPS3):c.513_516del (p.Leu172fs)
|
|
|
NM_032383.5(HPS3):c.589dup (p.Tyr197fs)
|
|
|
NM_032383.5(HPS3):c.601_602insACTGTCTCTTATACACATC (p.Met201fs)
|
|
|
NM_032383.5(HPS3):c.617_618insTCAGCAG (p.Leu207fs)
|
|
|
NM_032383.5(HPS3):c.658dup (p.Arg220fs)
|
|
|
NM_032383.5(HPS3):c.660_661del (p.Arg220fs)
|
rs1363164647
|
|
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)
|
|
|
NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)
|
|
|
NM_032383.5(HPS3):c.731C>A (p.Ser244Ter)
|
|
|
NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)
|
|
|
NM_032383.5(HPS3):c.791_792insC (p.Lys264fs)
|
|
|
NM_032383.5(HPS3):c.795_796del (p.Ser265fs)
|
|
|
NM_032383.5(HPS3):c.795_796delinsA (p.Ser265fs)
|
|
|
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
|
|
|
NM_032383.5(HPS3):c.809T>A (p.Leu270Ter)
|
|
|
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)
|
|
|
NM_032383.5(HPS3):c.827C>G (p.Ser276Cys)
|
|
|
NM_032383.5(HPS3):c.851_852del (p.Arg284fs)
|
rs750685598
|
|
NM_032383.5(HPS3):c.855del (p.Lys285fs)
|
|
|
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)
|
|
|
NM_032383.5(HPS3):c.869_870del (p.Gln290fs)
|
|
|
NM_032383.5(HPS3):c.87del (p.Arg30fs)
|
|
|
NM_032383.5(HPS3):c.89_114del (p.Arg30fs)
|
rs1553750083
|
|
NM_032383.5(HPS3):c.904dup (p.Ser302fs)
|
|
|
NM_032383.5(HPS3):c.931A>T (p.Lys311Ter)
|
|
|
NM_032383.5(HPS3):c.950_951del (p.Leu317fs)
|
|
|
NM_032383.5(HPS3):c.956_957del (p.Pro319fs)
|
|
|
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)
|
rs1722440534
|
|
NM_032383.5(HPS3):c.964del (p.Gln322fs)
|
|
|
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs)
|
rs763305108
|
|
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.107del (p.Lys36fs)
|
rs1554948134
|
|
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly)
|
rs761598432
|
|
NM_181507.2(HPS5):c.1324-32dup
|
rs369116404
|
|
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter)
|
rs1131692148
|
|
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.1900del (p.Glu634fs)
|
rs1131692146
|
|
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs)
|
rs281865103
|
|
NM_181507.2(HPS5):c.2058A>G (p.Glu686=)
|
rs1860442520
|
|
NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)
|
|
|
NM_181507.2(HPS5):c.2077del (p.Arg693fs)
|
rs746844529
|
|
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly)
|
rs886048078
|
|
NM_181507.2(HPS5):c.219G>A (p.Arg73=)
|
rs1131692150
|
|
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser)
|
rs1131692149
|
|
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
|
|
|
NM_181507.2(HPS5):c.260A>T (p.Asp87Val)
|
rs886048083
|
|
NM_181507.2(HPS5):c.2624del (p.Leu875fs)
|
rs281865105
|
|
NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr)
|
|
|
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs)
|
rs1131692151
|
|
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs)
|
rs397507169
|
|
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)
|
rs886041723
|
|
NM_181507.2(HPS5):c.3058+3A>G
|
rs113304476
|
|
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del)
|
rs753928208
|
|
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.818_822del (p.Thr273fs)
|
rs1131692147
|
|
NM_181507.2(HPS5):c.879dup (p.Lys294fs)
|
rs281865101
|
|
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
|
rs369851648
|
|
nsv1067844
|
|
|