NM_022081.6(HPS4):c.*1231C>T
|
rs56271395
|
0.35531
|
NM_022081.6(HPS4):c.*1229C>T
|
rs6147576
|
0.33676
|
NM_022081.6(HPS4):c.*1233C>T
|
rs770072939
|
0.16771
|
NM_022081.6(HPS4):c.*1227T>C
|
rs7293228
|
0.01801
|
NM_022081.5(HPS4):c.-660C>T
|
rs34019374
|
0.01443
|
NM_022081.6(HPS4):c.*1235C>T
|
rs1235169942
|
0.01229
|
NM_032383.5(HPS3):c.*135T>C
|
rs375383865
|
0.01150
|
NM_022081.6(HPS4):c.*1528T>G
|
rs7292764
|
0.00979
|
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.*1225T>C
|
rs886057311
|
0.00821
|
NM_022081.6(HPS4):c.*1223T>C
|
rs1367343497
|
0.00724
|
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
NM_022081.6(HPS4):c.*1762G>A
|
rs139974836
|
0.00680
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
NM_022081.6(HPS4):c.710C>T (p.Ala237Val)
|
rs77597168
|
0.00411
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)
|
rs62001052
|
0.00398
|
NM_022081.6(HPS4):c.*1237C>T
|
rs886057305
|
0.00384
|
NM_000195.5(HPS1):c.*252C>T
|
rs552596275
|
0.00346
|
NM_212550.5(BLOC1S3):c.*155_*156insAA
|
rs570559399
|
0.00320
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
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_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_181507.2(HPS5):c.-75A>G
|
rs193106100
|
0.00192
|
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)
|
rs147435410
|
0.00184
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_000096.4(CP):c.*1081T>A
|
rs188137938
|
0.00174
|
NM_181507.2(HPS5):c.309A>G (p.Glu103=)
|
rs77722090
|
0.00163
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)
|
rs17853184
|
0.00144
|
NM_032383.5(HPS3):c.*98A>T
|
rs113951847
|
0.00139
|
NM_000195.5(HPS1):c.*719T>C
|
rs557194861
|
0.00125
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
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_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)
|
rs200459002
|
0.00091
|
NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg)
|
rs201804540
|
0.00091
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_022081.6(HPS4):c.888C>T (p.Asn296=)
|
rs138343171
|
0.00086
|
NM_022081.5(HPS4):c.-628C>G
|
rs56821996
|
0.00078
|
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_032383.5(HPS3):c.*96TC[3]
|
rs1553756780
|
0.00063
|
NM_032383.5(HPS3):c.*96T>A
|
rs879086473
|
0.00060
|
NM_032383.5(HPS3):c.1152C>T (p.His384=)
|
rs113381494
|
0.00060
|
NM_000195.5(HPS1):c.*943C>T
|
rs558066370
|
0.00059
|
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)
|
rs199965734
|
0.00058
|
NM_003664.5(AP3B1):c.3131+5G>T
|
rs191616060
|
0.00053
|
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_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)
|
rs145351589
|
0.00046
|
NM_032383.5(HPS3):c.*95A>C
|
rs1013031553
|
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_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
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_003664.5(AP3B1):c.38G>C (p.Gly13Ala)
|
rs139760966
|
0.00039
|
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_000195.5(HPS1):c.1887C>T (p.Pro629=)
|
rs142347792
|
0.00036
|
NM_000195.5(HPS1):c.473G>A (p.Arg158His)
|
rs140480324
|
0.00036
|
NM_181507.2(HPS5):c.986-5C>T
|
rs201439984
|
0.00036
|
NM_022081.6(HPS4):c.*1236G>A
|
rs1356149759
|
0.00035
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile)
|
rs146303784
|
0.00033
|
NM_032383.5(HPS3):c.2124C>T (p.Gly708=)
|
rs138987987
|
0.00033
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
NM_181507.2(HPS5):c.2721A>G (p.Ser907=)
|
rs139795577
|
0.00032
|
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe)
|
rs146695034
|
0.00031
|
NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr)
|
rs201113371
|
0.00031
|
NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser)
|
rs138284359
|
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_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_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
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_022081.6(HPS4):c.-42A>G
|
rs369803062
|
0.00025
|
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)
|
rs149039105
|
0.00025
|
NM_000195.5(HPS1):c.-91T>A
|
rs542654066
|
0.00024
|
NM_003664.5(AP3B1):c.1168-9C>T
|
rs367648410
|
0.00024
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
NM_024747.6(HPS6):c.1035G>A (p.Arg345=)
|
rs374860183
|
0.00024
|
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His)
|
rs141832130
|
0.00023
|
NM_022081.6(HPS4):c.1192A>C (p.Arg398=)
|
rs375655372
|
0.00023
|
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_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_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.2200C>T (p.Arg734Trp)
|
rs752089199
|
0.00019
|
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=)
|
rs139039126
|
0.00019
|
NM_001261826.3(AP3D1):c.2001+6C>T
|
rs376715473
|
0.00017
|
NM_003664.5(AP3B1):c.*482C>T
|
rs538570213
|
0.00017
|
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_012388.4(BLOC1S6):c.125T>C (p.Leu42Ser)
|
rs201461886
|
0.00016
|
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)
|
rs376165374
|
0.00016
|
NM_181507.2(HPS5):c.*182C>T
|
rs886048074
|
0.00016
|
NM_000195.5(HPS1):c.1286G>A (p.Arg429His)
|
rs201728087
|
0.00015
|
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu)
|
rs201886263
|
0.00015
|
NM_022081.6(HPS4):c.1959T>C (p.Asn653=)
|
rs202120615
|
0.00015
|
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
|
rs142793392
|
0.00015
|
NM_000195.5(HPS1):c.366G>A (p.Leu122=)
|
rs147269809
|
0.00014
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
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_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg)
|
rs948696809
|
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_003664.5(AP3B1):c.1720A>G (p.Thr574Ala)
|
rs141789572
|
0.00013
|
NM_003664.5(AP3B1):c.1741A>G (p.Ile581Val)
|
rs751683762
|
0.00013
|
NM_022081.6(HPS4):c.*1209T>C
|
rs749313648
|
0.00013
|
NM_022081.6(HPS4):c.706+8G>C
|
rs3747131
|
0.00013
|
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_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
|
rs775570414
|
0.00012
|
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_003664.5(AP3B1):c.2762A>G (p.Glu921Gly)
|
rs753810749
|
0.00011
|
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_003664.5(AP3B1):c.*101T>C
|
rs766029582
|
0.00010
|
NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu)
|
rs148023800
|
0.00010
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu)
|
rs143902143
|
0.00010
|
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_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_003664.5(AP3B1):c.2900A>G (p.Lys967Arg)
|
rs766616397
|
0.00009
|
NM_003664.5(AP3B1):c.537-9A>G
|
rs372285421
|
0.00009
|
NM_003664.5(AP3B1):c.604-3T>C
|
rs754016521
|
0.00009
|
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile)
|
rs574333116
|
0.00009
|
NM_022081.6(HPS4):c.*469C>T
|
rs959233919
|
0.00009
|
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
|
rs180729981
|
0.00009
|
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_003664.5(AP3B1):c.1031G>A (p.Arg344His)
|
rs765852823
|
0.00008
|
NM_012388.4(BLOC1S6):c.82+6del
|
rs779246428
|
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_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
|
rs147125175
|
0.00007
|
NM_000195.5(HPS1):c.90C>T (p.Phe30=)
|
rs765362355
|
0.00007
|
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu)
|
rs138751237
|
0.00007
|
NM_003664.5(AP3B1):c.2779G>A (p.Gly927Ser)
|
rs746205404
|
0.00007
|
NM_022081.6(HPS4):c.*423G>A
|
rs552928725
|
0.00007
|
NM_024747.6(HPS6):c.634G>A (p.Val212Met)
|
rs375789510
|
0.00007
|
NM_032383.5(HPS3):c.2018C>T (p.Ser673Leu)
|
rs141023798
|
0.00007
|
NM_032383.5(HPS3):c.2888-1612G>A
|
rs281865096
|
0.00007
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
NM_000195.5(HPS1):c.447C>T (p.Phe149=)
|
rs564896584
|
0.00006
|
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_003664.5(AP3B1):c.*507G>A
|
rs865863660
|
0.00006
|
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser)
|
rs774098325
|
0.00006
|
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn)
|
rs370362655
|
0.00006
|
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
|
rs201238945
|
0.00006
|
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile)
|
rs372847987
|
0.00006
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
NM_003664.5(AP3B1):c.823G>A (p.Glu275Lys)
|
rs140209190
|
0.00006
|
NM_003664.5(AP3B1):c.835G>T (p.Asp279Tyr)
|
rs751922416
|
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_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.1224G>A (p.Pro408=)
|
rs752942876
|
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_000195.5(HPS1):c.320G>A (p.Arg107Gln)
|
rs538482143
|
0.00005
|
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)
|
rs11189601
|
0.00005
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His)
|
rs777268122
|
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_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_000195.5(HPS1):c.*589G>A
|
rs540367850
|
0.00004
|
NM_000195.5(HPS1):c.*691G>A
|
rs1012331153
|
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_000195.5(HPS1):c.9C>T (p.Cys3=)
|
rs750909242
|
0.00004
|
NM_001261826.3(AP3D1):c.2936C>T (p.Pro979Leu)
|
rs776432599
|
0.00004
|
NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr)
|
rs1032054339
|
0.00004
|
NM_003664.5(AP3B1):c.1862C>G (p.Thr621Ser)
|
rs796196281
|
0.00004
|
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val)
|
rs779404585
|
0.00004
|
NM_003664.5(AP3B1):c.2132A>T (p.Asp711Val)
|
rs145162631
|
0.00004
|
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln)
|
rs151028592
|
0.00004
|
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg)
|
rs764312417
|
0.00004
|
NM_003664.5(AP3B1):c.388C>T (p.Leu130=)
|
rs138774723
|
0.00004
|
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly)
|
rs554863664
|
0.00004
|
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr)
|
rs374731803
|
0.00004
|
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu)
|
rs1042113102
|
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_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)
|
rs281865164
|
0.00004
|
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_032383.5(HPS3):c.905C>T (p.Ser302Leu)
|
rs781327575
|
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_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.1398-8G>A
|
rs375009475
|
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.387T>C (p.Leu129=)
|
rs777005528
|
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_000195.5(HPS1):c.924C>T (p.Gly308=)
|
rs747955942
|
0.00003
|
NM_000195.5(HPS1):c.960G>A (p.Gly320=)
|
rs894529827
|
0.00003
|
NM_001261826.3(AP3D1):c.2601+6G>T
|
rs1265838305
|
0.00003
|
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
|
rs148160411
|
0.00003
|
NM_003664.5(AP3B1):c.1168-3T>C
|
rs751674819
|
0.00003
|
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met)
|
rs556341477
|
0.00003
|
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp)
|
rs758616866
|
0.00003
|
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val)
|
rs150765181
|
0.00003
|
NM_003664.5(AP3B1):c.279+6G>A
|
rs1269853831
|
0.00003
|
NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly)
|
rs746992047
|
0.00003
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys)
|
rs748972774
|
0.00003
|
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly)
|
rs756321242
|
0.00003
|
NM_003664.5(AP3B1):c.877A>G (p.Met293Val)
|
rs538390986
|
0.00003
|
NM_012388.4(BLOC1S6):c.130A>G (p.Ile44Val)
|
rs564232908
|
0.00003
|
NM_012388.4(BLOC1S6):c.224C>T (p.Thr75Ile)
|
rs768978261
|
0.00003
|
NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu)
|
rs759539185
|
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_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_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.1667C>T (p.Ala556Val)
|
rs200239872
|
0.00002
|
NM_000195.5(HPS1):c.1896C>T (p.Ser632=)
|
rs760508807
|
0.00002
|
NM_000195.5(HPS1):c.303C>T (p.Ser101=)
|
rs769932435
|
0.00002
|
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly)
|
rs979661361
|
0.00002
|
NM_003664.5(AP3B1):c.1331A>G (p.Asn444Ser)
|
rs758805835
|
0.00002
|
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys)
|
rs771964089
|
0.00002
|
NM_003664.5(AP3B1):c.1927G>A (p.Ala643Thr)
|
rs775296594
|
0.00002
|
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln)
|
rs150651515
|
0.00002
|
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val)
|
rs768736531
|
0.00002
|
NM_003664.5(AP3B1):c.2287A>G (p.Lys763Glu)
|
rs151082743
|
0.00002
|
NM_003664.5(AP3B1):c.2577T>C (p.Ser859=)
|
rs755754414
|
0.00002
|
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu)
|
rs1424373279
|
0.00002
|
NM_003664.5(AP3B1):c.942+6T>C
|
rs759015208
|
0.00002
|
NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser)
|
rs200204287
|
0.00002
|
NM_012388.4(BLOC1S6):c.391A>G (p.Lys131Glu)
|
rs1339131805
|
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.437T>C (p.Ile146Thr)
|
rs549798245
|
0.00002
|
NM_022081.6(HPS4):c.877C>G (p.Leu293Val)
|
rs886057317
|
0.00002
|
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.1342T>C (p.Leu448=)
|
rs778753554
|
0.00002
|
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys)
|
rs775762509
|
0.00002
|
NM_032383.5(HPS3):c.1509+5T>C
|
rs200117898
|
0.00002
|
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr)
|
rs776346762
|
0.00002
|
NM_032383.5(HPS3):c.2667C>T (p.Ala889=)
|
rs761310586
|
0.00002
|
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)
|
rs543058717
|
0.00002
|
NM_032383.5(HPS3):c.701G>A (p.Arg234Gln)
|
rs748904322
|
0.00002
|
NM_032383.5(HPS3):c.864C>T (p.His288=)
|
rs146928432
|
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_181507.2(HPS5):c.2718-12A>G
|
rs759757206
|
0.00002
|
NM_000096.4(CP):c.*343A>G
|
rs886058085
|
0.00001
|
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.1285C>T (p.Arg429Cys)
|
rs770233681
|
0.00001
|
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu)
|
rs756067445
|
0.00001
|
NM_000195.5(HPS1):c.1431G>A (p.Gln477=)
|
rs747509165
|
0.00001
|
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp)
|
rs755120094
|
0.00001
|
NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys)
|
rs747984964
|
0.00001
|
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val)
|
rs139951191
|
0.00001
|
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=)
|
rs764612179
|
0.00001
|
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys)
|
rs121908385
|
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.419C>T (p.Ala140Val)
|
rs1243685743
|
0.00001
|
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys)
|
rs727505003
|
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_000195.5(HPS1):c.741C>T (p.Ser247=)
|
rs772319786
|
0.00001
|
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)
|
rs745797275
|
0.00001
|
NM_000195.5(HPS1):c.819C>T (p.Ala273=)
|
rs775779922
|
0.00001
|
NM_000195.5(HPS1):c.973A>G (p.Met325Val)
|
rs1406192587
|
0.00001
|
NM_003664.5(AP3B1):c.*141T>C
|
rs753283084
|
0.00001
|
NM_003664.5(AP3B1):c.*447C>T
|
rs886060768
|
0.00001
|
NM_003664.5(AP3B1):c.1021C>T (p.Arg341Cys)
|
rs964935640
|
0.00001
|
NM_003664.5(AP3B1):c.1034G>A (p.Ser345Asn)
|
rs750036781
|
0.00001
|
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val)
|
rs1749668081
|
0.00001
|
NM_003664.5(AP3B1):c.1159A>G (p.Thr387Ala)
|
rs762030946
|
0.00001
|
NM_003664.5(AP3B1):c.1160C>T (p.Thr387Ile)
|
rs1744114827
|
0.00001
|
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met)
|
rs758680279
|
0.00001
|
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln)
|
rs779980435
|
0.00001
|
NM_003664.5(AP3B1):c.1234T>C (p.Tyr412His)
|
rs781034104
|
0.00001
|
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg)
|
rs778910104
|
0.00001
|
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val)
|
rs201185966
|
0.00001
|
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp)
|
rs1160297829
|
0.00001
|
NM_003664.5(AP3B1):c.1343G>A (p.Cys448Tyr)
|
rs201877252
|
0.00001
|
NM_003664.5(AP3B1):c.1363G>A (p.Glu455Lys)
|
rs1204234337
|
0.00001
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
NM_003664.5(AP3B1):c.136G>A (p.Asp46Asn)
|
rs768641911
|
0.00001
|
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val)
|
rs191850940
|
0.00001
|
NM_003664.5(AP3B1):c.1424A>G (p.Gln475Arg)
|
rs1743147205
|
0.00001
|
NM_003664.5(AP3B1):c.1445A>G (p.His482Arg)
|
rs370497154
|
0.00001
|
NM_003664.5(AP3B1):c.1554G>C (p.Leu518Phe)
|
rs1364578273
|
0.00001
|
NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu)
|
rs1384754808
|
0.00001
|
NM_003664.5(AP3B1):c.1679A>G (p.Asn560Ser)
|
rs776064198
|
0.00001
|
NM_003664.5(AP3B1):c.168T>A (p.Asp56Glu)
|
rs1274489549
|
0.00001
|
NM_003664.5(AP3B1):c.1718G>A (p.Arg573His)
|
rs1229904606
|
0.00001
|
NM_003664.5(AP3B1):c.176A>G (p.Lys59Arg)
|
rs1300050218
|
0.00001
|
NM_003664.5(AP3B1):c.1873A>T (p.Thr625Ser)
|
rs199908785
|
0.00001
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
NM_003664.5(AP3B1):c.1903G>A (p.Glu635Lys)
|
rs1381722917
|
0.00001
|
NM_003664.5(AP3B1):c.1934A>C (p.Asp645Ala)
|
rs1317710866
|
0.00001
|
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln)
|
rs748191084
|
0.00001
|
NM_003664.5(AP3B1):c.1972A>G (p.Lys658Glu)
|
rs1357683810
|
0.00001
|
NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp)
|
rs781781671
|
0.00001
|
NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg)
|
rs763619135
|
0.00001
|
NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn)
|
rs752440818
|
0.00001
|
NM_003664.5(AP3B1):c.2077+6T>C
|
rs1432974932
|
0.00001
|
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu)
|
rs1244138366
|
0.00001
|
NM_003664.5(AP3B1):c.2189G>A (p.Arg730Gln)
|
rs933653334
|
0.00001
|
NM_003664.5(AP3B1):c.2210A>G (p.Lys737Arg)
|
rs780784576
|
0.00001
|
NM_003664.5(AP3B1):c.2311G>A (p.Glu771Lys)
|
rs758351076
|
0.00001
|
NM_003664.5(AP3B1):c.2329G>A (p.Asp777Asn)
|
rs751538828
|
0.00001
|
NM_003664.5(AP3B1):c.2384G>A (p.Arg795Lys)
|
rs1017591456
|
0.00001
|
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro)
|
rs768483549
|
0.00001
|
NM_003664.5(AP3B1):c.2492T>A (p.Val831Asp)
|
rs149948974
|
0.00001
|
NM_003664.5(AP3B1):c.2527A>G (p.Met843Val)
|
rs201609994
|
0.00001
|
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala)
|
rs1056281695
|
0.00001
|
NM_003664.5(AP3B1):c.2627G>A (p.Arg876Gln)
|
rs772186737
|
0.00001
|
NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val)
|
rs1225801616
|
0.00001
|
NM_003664.5(AP3B1):c.2686G>C (p.Gly896Arg)
|
rs1338111569
|
0.00001
|
NM_003664.5(AP3B1):c.2708A>C (p.Gln903Pro)
|
rs1240100716
|
0.00001
|
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp)
|
rs759300647
|
0.00001
|
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val)
|
rs558325834
|
0.00001
|
NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu)
|
rs1747935041
|
0.00001
|
NM_003664.5(AP3B1):c.27T>G (p.Asn9Lys)
|
rs1170215351
|
0.00001
|
NM_003664.5(AP3B1):c.2809+4A>G
|
rs747843144
|
0.00001
|
NM_003664.5(AP3B1):c.2822C>A (p.Pro941His)
|
rs1022482616
|
0.00001
|
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=)
|
rs750377910
|
0.00001
|
NM_003664.5(AP3B1):c.2894+4A>G
|
rs544214699
|
0.00001
|
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile)
|
rs369459422
|
0.00001
|
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile)
|
rs780459865
|
0.00001
|
NM_003664.5(AP3B1):c.2992+3G>A
|
rs779017901
|
0.00001
|
NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg)
|
rs780143358
|
0.00001
|
NM_003664.5(AP3B1):c.3131+1G>A
|
rs766116144
|
0.00001
|
NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr)
|
rs776628092
|
0.00001
|
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)
|
rs535976982
|
0.00001
|
NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys)
|
rs767072786
|
0.00001
|
NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp)
|
rs761729448
|
0.00001
|
NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val)
|
rs760735640
|
0.00001
|
NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu)
|
rs976542118
|
0.00001
|
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile)
|
rs773537846
|
0.00001
|
NM_003664.5(AP3B1):c.382A>G (p.Asn128Asp)
|
rs758062316
|
0.00001
|
NM_003664.5(AP3B1):c.537-7T>A
|
rs773657171
|
0.00001
|
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala)
|
rs778281326
|
0.00001
|
NM_003664.5(AP3B1):c.565A>G (p.Ile189Val)
|
rs1393665689
|
0.00001
|
NM_003664.5(AP3B1):c.603+3A>G
|
rs1357382699
|
0.00001
|
NM_003664.5(AP3B1):c.637G>C (p.Glu213Gln)
|
rs1485047029
|
0.00001
|
NM_003664.5(AP3B1):c.739A>C (p.Met247Leu)
|
rs1271543780
|
0.00001
|
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn)
|
rs914618490
|
0.00001
|
NM_003664.5(AP3B1):c.821A>G (p.Tyr274Cys)
|
rs989736183
|
0.00001
|
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)
|
rs759296897
|
0.00001
|
NM_003664.5(AP3B1):c.883C>A (p.Pro295Thr)
|
rs570476100
|
0.00001
|
NM_003664.5(AP3B1):c.911C>T (p.Thr304Ile)
|
rs201075567
|
0.00001
|
NM_003664.5(AP3B1):c.929G>C (p.Ser310Thr)
|
rs778226822
|
0.00001
|
NM_003664.5(AP3B1):c.941C>T (p.Ala314Val)
|
rs753218867
|
0.00001
|
NM_003664.5(AP3B1):c.97G>T (p.Ala33Ser)
|
rs773073407
|
0.00001
|
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn)
|
rs149605903
|
0.00001
|
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val)
|
rs779791657
|
0.00001
|
NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp)
|
rs1048656816
|
0.00001
|
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys)
|
rs1427586266
|
0.00001
|
NM_012388.4(BLOC1S6):c.350A>G (p.Asn117Ser)
|
rs1230644464
|
0.00001
|
NM_012388.4(BLOC1S6):c.421C>T (p.Gln141Ter)
|
rs759015758
|
0.00001
|
NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr)
|
rs770901442
|
0.00001
|
NM_012388.4(BLOC1S6):c.508A>G (p.Lys170Glu)
|
rs760751818
|
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.765C>T (p.Ala255=)
|
rs886057318
|
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_024747.6(HPS6):c.1430A>C (p.Asp477Ala)
|
rs755069670
|
0.00001
|
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg)
|
rs772897521
|
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_032122.5(DTNBP1):c.488+18G>A
|
rs746234584
|
0.00001
|
NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met)
|
rs367543104
|
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.1951A>G (p.Met651Val)
|
rs753269782
|
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.305C>A (p.Ser102Tyr)
|
rs1189649144
|
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.687C>A (p.Asn229Lys)
|
rs750964494
|
0.00001
|
NM_032383.5(HPS3):c.906G>A (p.Ser302=)
|
rs1157223288
|
0.00001
|
NM_032383.5(HPS3):c.938A>G (p.His313Arg)
|
rs910569690
|
0.00001
|
NM_032383.5(HPS3):c.970G>A (p.Gly324Ser)
|
rs370943042
|
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_181507.2(HPS5):c.825-14del
|
rs886048082
|
0.00001
|
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu)
|
rs1021933564
|
0.00001
|
NC_000005.10:g.(?_78020672)_(78089519_?)del
|
|
|
NC_000005.9:g.(?_77471430)_(77477506_?)del
|
|
|
NC_000005.9:g.(?_77536666)_(77590423_?)dup
|
|
|
NC_000015.9:g.(?_45879642)_(45898712_?)dup
|
|
|
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_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.*1215_*1217delinsTCC
|
rs386746903
|
|
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.-153del
|
rs886046593
|
|
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
|
|
|
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile)
|
rs374952573
|
|
NM_000195.5(HPS1):c.1118C>A (p.Pro373His)
|
rs945250747
|
|
NM_000195.5(HPS1):c.1156-8A>C
|
rs1845516768
|
|
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro)
|
rs757853476
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile)
|
rs2136134351
|
|
NM_000195.5(HPS1):c.159G>T (p.Pro53=)
|
rs78504928
|
|
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
|
rs748106098
|
|
NM_000195.5(HPS1):c.1646G>A (p.Arg549His)
|
rs753635327
|
|
NM_000195.5(HPS1):c.1647C>T (p.Arg549=)
|
rs886046591
|
|
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu)
|
rs1271147542
|
|
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala)
|
rs1314012716
|
|
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.1855A>G (p.Met619Val)
|
rs1844649182
|
|
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys)
|
rs1467653379
|
|
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys)
|
rs1844278117
|
|
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.2053G>C (p.Gly685Arg)
|
rs554593853
|
|
NM_000195.5(HPS1):c.268C>G (p.Leu90Val)
|
rs1847174036
|
|
NM_000195.5(HPS1):c.307G>T (p.Gly103Trp)
|
rs771121322
|
|
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly)
|
rs376557022
|
|
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp)
|
rs376557022
|
|
NM_000195.5(HPS1):c.54A>G (p.Thr18=)
|
rs531947687
|
|
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly)
|
rs565505287
|
|
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.723T>A (p.Val241=)
|
rs1846304734
|
|
NM_000195.5(HPS1):c.808G>A (p.Val270Met)
|
rs145364430
|
|
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln)
|
rs374679558
|
|
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg)
|
rs11592273
|
|
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg)
|
rs1846147269
|
|
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)
|
|
|
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys)
|
rs551074257
|
|
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg)
|
rs886046592
|
|
NM_001261826.3(AP3D1):c.1523G>C (p.Arg508Pro)
|
rs768071199
|
|
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)
|
rs2018180805
|
|
NM_003664.4(AP3B1):c.-126C>G
|
rs760008097
|
|
NM_003664.5(AP3B1):c.*191C>G
|
rs6864605
|
|
NM_003664.5(AP3B1):c.*380G>A
|
rs911081557
|
|
NM_003664.5(AP3B1):c.*380G>C
|
rs911081557
|
|
NM_003664.5(AP3B1):c.*552TAAA[1]
|
rs886060767
|
|
NM_003664.5(AP3B1):c.*69dup
|
rs886060769
|
|
NM_003664.5(AP3B1):c.-115G>A
|
rs886060776
|
|
NM_003664.5(AP3B1):c.-83G>C
|
rs774869942
|
|
NM_003664.5(AP3B1):c.1025T>C (p.Leu342Ser)
|
|
|
NM_003664.5(AP3B1):c.1030C>A (p.Arg344Ser)
|
rs753341973
|
|
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg)
|
rs1744189442
|
|
NM_003664.5(AP3B1):c.1039A>G (p.Arg347Gly)
|
rs774128940
|
|
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
|
|
|
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
|
|
|
NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)
|
|
|
NM_003664.5(AP3B1):c.107T>C (p.Leu36Pro)
|
|
|
NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)
|
|
|
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
|
|
|
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu)
|
rs2112401517
|
|
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile)
|
rs757985695
|
|
NM_003664.5(AP3B1):c.1167+1_1167+2dup
|
rs2112401395
|
|
NM_003664.5(AP3B1):c.1180A>G (p.Thr394Ala)
|
|
|
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val)
|
rs1743584840
|
|
NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser)
|
rs759936403
|
|
NM_003664.5(AP3B1):c.1230+6T>C
|
|
|
NM_003664.5(AP3B1):c.1230G>C (p.Gln410His)
|
rs2112377230
|
|
NM_003664.5(AP3B1):c.1231-11A>G
|
rs1743450274
|
|
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
|
|
|
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr)
|
rs778910104
|
|
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
|
|
|
NM_003664.5(AP3B1):c.128+4A>G
|
|
|
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=)
|
rs954170484
|
|
NM_003664.5(AP3B1):c.1292G>A (p.Cys431Tyr)
|
rs751127592
|
|
NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)
|
|
|
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr)
|
rs1289085829
|
|
NM_003664.5(AP3B1):c.1301A>G (p.Asn434Ser)
|
|
|
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
|
|
|
NM_003664.5(AP3B1):c.1367T>A (p.Ile456Lys)
|
|
|
NM_003664.5(AP3B1):c.1387GTT[1] (p.Val464del)
|
|
|
NM_003664.5(AP3B1):c.1390G>C (p.Val464Leu)
|
|
|
NM_003664.5(AP3B1):c.1392T>G (p.Val464=)
|
rs886060774
|
|
NM_003664.5(AP3B1):c.1427A>T (p.His476Leu)
|
|
|
NM_003664.5(AP3B1):c.1435A>C (p.Ile479Leu)
|
rs2112357067
|
|
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr)
|
rs757746058
|
|
NM_003664.5(AP3B1):c.1438A>G (p.Ile480Val)
|
|
|
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
|
|
|
NM_003664.5(AP3B1):c.1509T>A (p.Ile503=)
|
rs1480759584
|
|
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln)
|
rs193920974
|
|
NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)
|
|
|
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg)
|
rs1753134356
|
|
NM_003664.5(AP3B1):c.1550T>C (p.Val517Ala)
|
rs2112326945
|
|
NM_003664.5(AP3B1):c.1562T>C (p.Met521Thr)
|
|
|
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn)
|
rs779511911
|
|
NM_003664.5(AP3B1):c.1589A>G (p.Asp530Gly)
|
|
|
NM_003664.5(AP3B1):c.1596A>G (p.Val532=)
|
|
|
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
|
|
|
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
|
|
|
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile)
|
rs770281960
|
|
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His)
|
rs1752591935
|
|
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
|
|
|
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
|
|
|
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala)
|
rs1580385068
|
|
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala)
|
rs6453373
|
|
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
|
|
|
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
|
|
|
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val)
|
rs2112300913
|
|
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn)
|
rs1752586022
|
|
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA
|
rs1290648194
|
|
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly)
|
rs769757592
|
|
NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg)
|
rs2112298805
|
|
NM_003664.5(AP3B1):c.1868C>T (p.Ser623Phe)
|
rs755372821
|
|
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala)
|
rs199908785
|
|
NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)
|
|
|
NM_003664.5(AP3B1):c.1874C>T (p.Thr625Ile)
|
|
|
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
|
|
|
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile)
|
rs1752538898
|
|
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
|
|
|
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu)
|
rs755219130
|
|
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala)
|
rs749489841
|
|
NM_003664.5(AP3B1):c.1988C>T (p.Ala663Val)
|
rs2112265534
|
|
NM_003664.5(AP3B1):c.2009A>C (p.Asn670Thr)
|
rs757825991
|
|
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe)
|
rs886060773
|
|
NM_003664.5(AP3B1):c.2015C>G (p.Ala672Gly)
|
rs2112265444
|
|
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys)
|
rs759438615
|
|
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
|
|
|
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
|
|
|
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn)
|
rs886060772
|
|
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
|
|
|
NM_003664.5(AP3B1):c.211G>A (p.Ala71Thr)
|
|
|
NM_003664.5(AP3B1):c.2122_2123delinsTT (p.Glu708Leu)
|
rs2112260341
|
|
NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu)
|
rs777032367
|
|
NM_003664.5(AP3B1):c.2129G>C (p.Gly710Ala)
|
rs777032367
|
|
NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val)
|
rs777032367
|
|
NM_003664.5(AP3B1):c.2138A>G (p.Asn713Ser)
|
|
|
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg)
|
rs1365271615
|
|
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys)
|
rs2112260253
|
|
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
|
|
|
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
|
|
|
NM_003664.5(AP3B1):c.2257G>A (p.Glu753Lys)
|
|
|
NM_003664.5(AP3B1):c.2270A>G (p.Lys757Arg)
|
rs745461947
|
|
NM_003664.5(AP3B1):c.2279A>G (p.Glu760Gly)
|
rs2112252523
|
|
NM_003664.5(AP3B1):c.2324T>C (p.Ile775Thr)
|
rs62001050
|
|
NM_003664.5(AP3B1):c.2326G>A (p.Glu776Lys)
|
|
|
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg)
|
rs1334114879
|
|
NM_003664.5(AP3B1):c.2333G>A (p.Ser778Asn)
|
|
|
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn)
|
rs532221135
|
|
NM_003664.5(AP3B1):c.2353G>C (p.Glu785Gln)
|
|
|
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro)
|
rs1747105618
|
|
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile)
|
rs770603726
|
|
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
|
|
|
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly)
|
rs886060771
|
|
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr)
|
rs1028498771
|
|
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
|
|
|
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val)
|
rs1751097725
|
|
NM_003664.5(AP3B1):c.2471-16G>A
|
rs760243722
|
|
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser)
|
rs1580331287
|
|
NM_003664.5(AP3B1):c.2492T>G (p.Val831Gly)
|
|
|
NM_003664.5(AP3B1):c.2513T>G (p.Leu838Arg)
|
|
|
NM_003664.5(AP3B1):c.2531C>T (p.Ala844Val)
|
|
|
NM_003664.5(AP3B1):c.2542G>A (p.Gly848Ser)
|
|
|
NM_003664.5(AP3B1):c.2548C>A (p.His850Asn)
|
rs201936976
|
|
NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)
|
|
|
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
|
|
|
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
|
|
|
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met)
|
rs1398038084
|
|
NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)
|
|
|
NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)
|
|
|
NM_003664.5(AP3B1):c.2632A>G (p.Ser878Gly)
|
rs2112100501
|
|
NM_003664.5(AP3B1):c.2641G>C (p.Gly881Arg)
|
rs2112100469
|
|
NM_003664.5(AP3B1):c.2656T>C (p.Tyr886His)
|
rs2112100439
|
|
NM_003664.5(AP3B1):c.265A>G (p.Ser89Gly)
|
rs748322548
|
|
NM_003664.5(AP3B1):c.2673G>C (p.Gln891His)
|
rs770455413
|
|
NM_003664.5(AP3B1):c.2674C>A (p.Pro892Thr)
|
rs2112100401
|
|
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile)
|
rs1747942141
|
|
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
|
|
|
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
|
|
|
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser)
|
rs868369063
|
|
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
|
|
|
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile)
|
rs1747940185
|
|
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
|
|
|
NM_003664.5(AP3B1):c.2759G>A (p.Gly920Glu)
|
|
|
NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg)
|
rs1554059568
|
|
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn)
|
rs201179527
|
|
NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp)
|
rs866308304
|
|
NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr)
|
|
|
NM_003664.5(AP3B1):c.279+19A>G
|
rs756610617
|
|
NM_003664.5(AP3B1):c.280-4_280-3insG
|
|
|
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro)
|
rs1002296977
|
|
NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)
|
|
|
NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg)
|
rs2112091461
|
|
NM_003664.5(AP3B1):c.2894+6T>C
|
|
|
NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys)
|
rs1749672035
|
|
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly)
|
rs886060770
|
|
NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser)
|
rs1580247322
|
|
NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile)
|
rs745653147
|
|
NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
|
|
|
NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
|
|
|
NM_003664.5(AP3B1):c.2993-3C>T
|
rs1746824105
|
|
NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala)
|
rs781365567
|
|
NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
|
|
|
NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly)
|
rs1746480237
|
|
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His)
|
rs764848036
|
|
NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
|
|
|
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg)
|
rs2112054033
|
|
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
|
|
|
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
|
rs1397315776
|
|
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala)
|
rs137901104
|
|
NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
|
|
|
NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
|
|
|
NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
|
|
|
NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro)
|
rs2112607296
|
|
NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn)
|
rs1746477844
|
|
NM_003664.5(AP3B1):c.387A>T (p.Gln129His)
|
rs1229682546
|
|
NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr)
|
rs1270734050
|
|
NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup)
|
rs759424724
|
|
NM_003664.5(AP3B1):c.439A>G (p.Ile147Val)
|
rs2112494710
|
|
NM_003664.5(AP3B1):c.454A>C (p.Met152Leu)
|
rs2112494693
|
|
NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
|
|
|
NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
|
|
|
NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
|
|
|
NM_003664.5(AP3B1):c.570A>G (p.Glu190=)
|
rs2112491939
|
|
NM_003664.5(AP3B1):c.603+16T>G
|
rs2112491852
|
|
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu)
|
rs762212366
|
|
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu)
|
rs1302695682
|
|
NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu)
|
rs869312837
|
|
NM_003664.5(AP3B1):c.720G>A (p.Gly240=)
|
rs886060775
|
|
NM_003664.5(AP3B1):c.725T>C (p.Val242Ala)
|
rs1580498432
|
|
NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
|
|
|
NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr)
|
rs753890496
|
|
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile)
|
rs2112607227
|
|
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
|
|
|
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
|
|
|
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu)
|
rs1260956613
|
|
NM_003664.5(AP3B1):c.786+6T>A
|
rs1332793203
|
|
NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser)
|
rs1044368703
|
|
NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp)
|
rs1744376789
|
|
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly)
|
rs147761913
|
|
NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn)
|
rs751922416
|
|
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val)
|
rs1744372518
|
|
NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu)
|
rs1437339620
|
|
NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
|
|
|
NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
|
|
|
NM_003664.5(AP3B1):c.890A>T (p.His297Leu)
|
rs1744369394
|
|
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
|
|
|
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys)
|
rs1744368521
|
|
NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr)
|
rs2112414100
|
|
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser)
|
rs1456578906
|
|
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
|
|
|
NM_003664.5(AP3B1):c.944T>C (p.Val315Ala)
|
rs1744194194
|
|
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile)
|
rs1744194052
|
|
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
|
|
|
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val)
|
rs758789954
|
|
NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu)
|
rs2112405535
|
|
NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser)
|
rs2112405528
|
|
NM_012388.4(BLOC1S6):c.*274TG[1]
|
rs766946085
|
|
NM_012388.4(BLOC1S6):c.*2818ACAA[4]
|
rs376870196
|
|
NM_012388.4(BLOC1S6):c.101C>G (p.Pro34Arg)
|
|
|
NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)
|
|
|
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu)
|
rs1893910592
|
|
NM_012388.4(BLOC1S6):c.120G>A (p.Glu40=)
|
|
|
NM_012388.4(BLOC1S6):c.14G>A (p.Gly5Glu)
|
rs756977799
|
|
NM_012388.4(BLOC1S6):c.14G>T (p.Gly5Val)
|
rs756977799
|
|
NM_012388.4(BLOC1S6):c.152A>G (p.Gln51Arg)
|
rs1893913150
|
|
NM_012388.4(BLOC1S6):c.157G>A (p.Ala53Thr)
|
|
|
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn)
|
rs746059095
|
|
NM_012388.4(BLOC1S6):c.196A>G (p.Arg66Gly)
|
rs1595552977
|
|
NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu)
|
rs775671194
|
|
NM_012388.4(BLOC1S6):c.225-14_225-13insA
|
rs1894325968
|
|
NM_012388.4(BLOC1S6):c.257A>G (p.Glu86Gly)
|
rs2140916217
|
|
NM_012388.4(BLOC1S6):c.25C>T (p.Pro9Ser)
|
rs1442888203
|
|
NM_012388.4(BLOC1S6):c.269C>T (p.Ser90Leu)
|
rs1894328541
|
|
NM_012388.4(BLOC1S6):c.286C>T (p.His96Tyr)
|
rs1595559213
|
|
NM_012388.4(BLOC1S6):c.289T>C (p.Ser97Pro)
|
rs1274935670
|
|
NM_012388.4(BLOC1S6):c.313-3A>T
|
rs1366252583
|
|
NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln)
|
rs370118149
|
|
NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)
|
|
|
NM_012388.4(BLOC1S6):c.350A>T (p.Asn117Ile)
|
rs1230644464
|
|
NM_012388.4(BLOC1S6):c.358A>C (p.Lys120Gln)
|
rs2140919031
|
|
NM_012388.4(BLOC1S6):c.359_360del (p.Lys120fs)
|
|
|
NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)
|
|
|
NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile)
|
rs1242644356
|
|
NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu)
|
rs1894463062
|
|
NM_012388.4(BLOC1S6):c.434A>G (p.Lys145Arg)
|
rs1894463182
|
|
NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp)
|
rs141581736
|
|
NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)
|
|
|
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln)
|
rs145937442
|
|
NM_012388.4(BLOC1S6):c.469G>A (p.Glu157Lys)
|
rs1253763397
|
|
NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs)
|
rs1350528661
|
|
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser)
|
rs775510569
|
|
NM_012388.4(BLOC1S6):c.503C>T (p.Pro168Leu)
|
|
|
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
|
|
|
NM_012388.4(BLOC1S6):c.82+12C>T
|
rs763484836
|
|
NM_012388.4(BLOC1S6):c.82+17G>A
|
|
|
NM_012388.4(BLOC1S6):c.82+4C>G
|
|
|
NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)
|
|
|
NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)
|
|
|
NM_022081.5(HPS4):c.-634C>T
|
rs886057325
|
|
NM_022081.6(HPS4):c.*1024_*1028del
|
rs886057313
|
|
NM_022081.6(HPS4):c.*1120C>T
|
rs886057312
|
|
NM_022081.6(HPS4):c.*1191TG[16]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1191TG[17]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1191TG[20]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1207_*1227delinsC
|
rs886057310
|
|
NM_022081.6(HPS4):c.*1207_*1227delinsCGC
|
rs886057310
|
|
NM_022081.6(HPS4):c.*1223_*1238del
|
rs886057303
|
|
NM_022081.6(HPS4):c.*1227_*1236del
|
rs755364858
|
|
NM_022081.6(HPS4):c.*1229CG[5]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[6]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[7]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[8]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229_*1237delinsTGT
|
rs886057304
|
|
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT
|
rs886057304
|
|
NM_022081.6(HPS4):c.*1236_*1237insTAA
|
rs1555885488
|
|
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.128C>A (p.Ser43Tyr)
|
rs2091003499
|
|
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu)
|
rs150216540
|
|
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
|
|
|
NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly)
|
|
|
NM_022081.6(HPS4):c.177A>C (p.Gly59=)
|
rs886057320
|
|
NM_022081.6(HPS4):c.272T>C (p.Leu91Pro)
|
rs2146925564
|
|
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
|
|
|
NM_022081.6(HPS4):c.430G>T (p.Glu144Ter)
|
|
|
NM_022081.6(HPS4):c.461A>G (p.His154Arg)
|
rs281865098
|
|
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
|
|
|
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_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_032122.5(DTNBP1):c.*151_*152dup
|
rs555440397
|
|
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)
|
rs752074481
|
|
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)
|
rs752074481
|
|
NM_032122.5(DTNBP1):c.111-2A>G
|
|
|
NM_032122.5(DTNBP1):c.489-12_489-8del
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.489-8del
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.489-8dup
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.668-14del
|
rs886061225
|
|
NM_032383.4(HPS3):c.-108C>T
|
rs886058074
|
|
NM_032383.5(HPS3):c.*129_*130insGC
|
rs886058082
|
|
NM_032383.5(HPS3):c.*138A>T
|
rs1049481742
|
|
NM_032383.5(HPS3):c.*207C>T
|
rs1725097839
|
|
NM_032383.5(HPS3):c.*96_*97insATCACA
|
rs374839757
|
|
NM_032383.5(HPS3):c.*97CA[16]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[17]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[20]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[21]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[22]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[23]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[25]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97_*98insTCACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCACACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCACACACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCTCACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.-43C>A
|
rs375227018
|
|
NM_032383.5(HPS3):c.10C>T (p.Leu4=)
|
rs1343390851
|
|
NM_032383.5(HPS3):c.1128A>G (p.Ala376=)
|
rs1722738295
|
|
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.199C>T (p.Leu67=)
|
rs546531255
|
|
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.2370C>G (p.Leu790=)
|
rs746304657
|
|
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg)
|
rs1724018415
|
|
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.2932A>G (p.Met978Val)
|
rs1206629874
|
|
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.716T>G (p.Ile239Ser)
|
rs886058075
|
|
NM_032383.5(HPS3):c.827C>G (p.Ser276Cys)
|
|
|
NM_032383.5(HPS3):c.884+11_884+12insT
|
rs886058076
|
|
NM_032383.5(HPS3):c.884+21_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.884+22_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.884+24_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)
|
rs1722440534
|
|
NM_181507.1(HPS5):c.-251C>T
|
rs4150530
|
|
NM_181507.2(HPS5):c.*1003_*1004del
|
rs886048070
|
|
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.2221ACA[1] (p.Thr742del)
|
rs886048077
|
|
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.2837+15del
|
rs886048076
|
|
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
|
|
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)
|
rs1599746194
|
|
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser)
|
rs200799185
|
|
NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu)
|
|
|