NM_032383.5(HPS3):c.2887+81G>A
|
rs2681096
|
0.98243
|
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)
|
rs6453373
|
0.91917
|
NM_022081.6(HPS4):c.*1613C>A
|
rs3752589
|
0.88461
|
NM_022081.6(HPS4):c.-296T>C
|
rs5761557
|
0.88308
|
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)
|
rs1894706
|
0.86290
|
NM_022081.6(HPS4):c.1875G>T (p.Gln625His)
|
rs1894704
|
0.86250
|
NM_022081.6(HPS4):c.706+39G>T
|
rs739289
|
0.83516
|
NM_022081.6(HPS4):c.707-28T>C
|
rs3213583
|
0.83408
|
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)
|
rs713998
|
0.81679
|
NM_022081.6(HPS4):c.1654G>A (p.Val552Met)
|
rs5752330
|
0.81665
|
NM_022081.6(HPS4):c.-253C>T
|
rs3747134
|
0.81120
|
NM_022081.5(HPS4):c.-662G>T
|
rs968425
|
0.80578
|
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_000195.5(HPS1):c.768+64A>G
|
rs2296431
|
0.67902
|
NM_181507.2(HPS5):c.1511-30G>A
|
rs2305565
|
0.58312
|
NM_000195.5(HPS1):c.937+192T>C
|
rs1061135
|
0.53604
|
NM_032383.5(HPS3):c.1494G>A (p.Gln498=)
|
rs6440589
|
0.50726
|
NM_000195.5(HPS1):c.*706C>G
|
rs3830020
|
0.48408
|
NM_032383.5(HPS3):c.2796+50C>T
|
rs2681092
|
0.46501
|
NM_000195.5(HPS1):c.*982T>C
|
rs1739
|
0.45933
|
NM_000195.5(HPS1):c.*955A>G
|
rs1737
|
0.45932
|
NM_022081.6(HPS4):c.*1962C>T
|
rs5761533
|
0.44728
|
NM_032383.5(HPS3):c.2107-57A>G
|
rs61615092
|
0.44604
|
NM_000195.5(HPS1):c.*324T>C
|
rs1061123
|
0.44036
|
NM_000195.5(HPS1):c.*272C>T
|
rs1061115
|
0.43400
|
NM_000195.5(HPS1):c.*452G>A
|
rs701801
|
0.39309
|
NM_181507.2(HPS5):c.*464C>A
|
rs1046611
|
0.35745
|
NM_022081.6(HPS4):c.*1231C>T
|
rs56271395
|
0.35531
|
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val)
|
rs2014410
|
0.35365
|
NM_000195.5(HPS1):c.*1167G>A
|
rs1061437
|
0.35147
|
NM_000195.5(HPS1):c.*1217T>C
|
rs3830025
|
0.34581
|
NM_000195.5(HPS1):c.*1215C>T
|
rs3830024
|
0.34580
|
NM_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_022081.6(HPS4):c.*1229C>T
|
rs6147576
|
0.33676
|
NM_000195.5(HPS1):c.118-54A>T
|
rs2296430
|
0.33514
|
NM_003664.5(AP3B1):c.*107T>A
|
rs11552314
|
0.29901
|
NM_032383.5(HPS3):c.1163+62T>G
|
rs11715291
|
0.28038
|
NM_032383.5(HPS3):c.981A>G (p.Thr327=)
|
rs11718908
|
0.28006
|
NM_000195.5(HPS1):c.-51C>A
|
rs1804689
|
0.27683
|
NM_000195.5(HPS1):c.636C>T (p.Leu212=)
|
rs1801287
|
0.25851
|
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)
|
rs42360
|
0.23948
|
NM_000195.5(HPS1):c.1599-15A>G
|
rs2296435
|
0.21496
|
NM_000195.5(HPS1):c.1397+7G>C
|
rs2296432
|
0.20947
|
NM_000195.5(HPS1):c.1397+8G>T
|
rs2296433
|
0.20935
|
NM_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_003664.5(AP3B1):c.1038T>C (p.Asn346=)
|
rs4532349
|
0.18606
|
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_022081.6(HPS4):c.*1233C>T
|
rs770072939
|
0.16771
|
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_000195.5(HPS1):c.937+88C>T
|
rs34533614
|
0.13757
|
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=)
|
rs758506
|
0.13313
|
NM_000195.5(HPS1):c.399-35G>A
|
rs11591594
|
0.12488
|
NM_022081.6(HPS4):c.-530A>G
|
rs3747137
|
0.11724
|
NM_032383.5(HPS3):c.*172G>A
|
rs34511277
|
0.11672
|
NM_032383.5(HPS3):c.*128A>G
|
rs73019023
|
0.11195
|
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)
|
rs2296436
|
0.09989
|
NM_000195.5(HPS1):c.1335+48G>A
|
rs41317034
|
0.09953
|
NM_024747.6(HPS6):c.516G>A (p.Gly172=)
|
rs3737243
|
0.07919
|
NM_212550.4(BLOC1S3):c.*1905T>C
|
rs78979751
|
0.06757
|
NM_003664.5(AP3B1):c.1969-10G>A
|
rs77009095
|
0.05363
|
NM_000195.5(HPS1):c.297C>T (p.Thr99=)
|
rs11539873
|
0.04930
|
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)
|
rs17192146
|
0.04676
|
NM_000195.5(HPS1):c.*694C>T
|
rs7075480
|
0.04558
|
NM_000195.5(HPS1):c.987+13T>C
|
rs12571249
|
0.04438
|
NM_000195.5(HPS1):c.*473G>A
|
rs3830019
|
0.04437
|
NM_000195.5(HPS1):c.11T>C (p.Val4Ala)
|
rs58548334
|
0.03653
|
NM_022081.6(HPS4):c.558G>A (p.Ser186=)
|
rs13054747
|
0.03591
|
NM_032383.5(HPS3):c.1479G>A (p.Thr493=)
|
rs34197730
|
0.03245
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_022081.6(HPS4):c.*1250C>T
|
rs7291576
|
0.02974
|
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_003664.5(AP3B1):c.1116G>C (p.Leu372=)
|
rs76433453
|
0.02452
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
NM_001271769.2(AP3B1):c.*588A>G
|
rs114954951
|
0.02413
|
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_000096.4(CP):c.*137C>T
|
rs34228141
|
0.02012
|
NM_181507.2(HPS5):c.*702A>T
|
rs79086536
|
0.01805
|
NM_022081.6(HPS4):c.*1227T>C
|
rs7293228
|
0.01801
|
NM_003664.5(AP3B1):c.1364-18A>G
|
rs112329411
|
0.01617
|
NM_000195.5(HPS1):c.1767G>A (p.Ala589=)
|
rs79218830
|
0.01605
|
NM_022081.6(HPS4):c.1899C>T (p.Val633=)
|
rs35993959
|
0.01542
|
NM_003664.5(AP3B1):c.687A>G (p.Leu229=)
|
rs35496909
|
0.01507
|
NM_003664.5(AP3B1):c.339A>C (p.Ala113=)
|
rs7706167
|
0.01450
|
NM_022081.5(HPS4):c.-660C>T
|
rs34019374
|
0.01443
|
NM_000096.4(CP):c.*768T>C
|
rs35805816
|
0.01348
|
NM_000195.5(HPS1):c.159G>A (p.Pro53=)
|
rs78504928
|
0.01348
|
NM_003664.5(AP3B1):c.1095+17C>T
|
rs58284777
|
0.01316
|
NM_000195.5(HPS1):c.-105-9C>T
|
rs2296429
|
0.01268
|
NM_022081.6(HPS4):c.*1235C>T
|
rs1235169942
|
0.01229
|
NM_032383.5(HPS3):c.*135T>C
|
rs375383865
|
0.01150
|
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)
|
rs78336249
|
0.01058
|
NM_003664.5(AP3B1):c.2810-4C>T
|
rs115340604
|
0.01015
|
NM_000195.5(HPS1):c.*460C>T
|
rs114794063
|
0.01003
|
NM_022081.6(HPS4):c.*1528T>G
|
rs7292764
|
0.00979
|
NM_024747.6(HPS6):c.1764G>A (p.Gln588=)
|
rs145597717
|
0.00963
|
NM_181507.2(HPS5):c.-142C>T
|
rs4150528
|
0.00903
|
NM_000195.5(HPS1):c.255+9A>G
|
rs78927693
|
0.00885
|
NM_022081.6(HPS4):c.*2269A>G
|
rs147989849
|
0.00883
|
NM_000096.4(CP):c.*509A>C
|
rs13098532
|
0.00867
|
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys)
|
rs116769827
|
0.00865
|
NM_000096.4(CP):c.*879A>C
|
rs144029944
|
0.00863
|
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_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_032383.5(HPS3):c.*170C>T
|
rs182666670
|
0.00795
|
NM_022081.6(HPS4):c.-554C>T
|
rs115916720
|
0.00769
|
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln)
|
rs56378825
|
0.00761
|
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys)
|
rs62001050
|
0.00745
|
NM_181507.1(HPS5):c.-250G>T
|
rs4150529
|
0.00728
|
NM_022081.6(HPS4):c.*1223T>C
|
rs1367343497
|
0.00724
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
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.*379A>G
|
rs115124715
|
0.00669
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
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_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_000195.5(HPS1):c.*916G>A
|
rs114082441
|
0.00522
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
NM_181507.2(HPS5):c.-91C>G
|
rs4150527
|
0.00513
|
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)
|
rs61755718
|
0.00512
|
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)
|
rs146624866
|
0.00508
|
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val)
|
rs149640235
|
0.00498
|
NM_022081.6(HPS4):c.*1850G>A
|
rs143168600
|
0.00456
|
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)
|
rs7914192
|
0.00426
|
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)
|
rs143784823
|
0.00417
|
NM_000096.4(CP):c.*259C>T
|
rs192321084
|
0.00414
|
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_003664.5(AP3B1):c.1838-19T>G
|
rs140840619
|
0.00367
|
NM_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_000195.5(HPS1):c.*252C>T
|
rs552596275
|
0.00346
|
NM_001261826.3(AP3D1):c.463-4G>A
|
rs192634153
|
0.00324
|
NM_212550.5(BLOC1S3):c.*155_*156insAA
|
rs570559399
|
0.00320
|
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_000195.5(HPS1):c.*736C>T
|
rs149708847
|
0.00306
|
NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr)
|
rs145762743
|
0.00306
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_032383.5(HPS3):c.2055G>A (p.Leu685=)
|
rs140443498
|
0.00300
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)
|
rs144875223
|
0.00297
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)
|
rs142893758
|
0.00290
|
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu)
|
rs149677540
|
0.00276
|
NM_000195.5(HPS1):c.1532+5G>A
|
rs199874645
|
0.00273
|
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)
|
rs78892693
|
0.00257
|
NM_022081.6(HPS4):c.*1589C>A
|
rs117397456
|
0.00238
|
NM_003664.5(AP3B1):c.1040+9T>A
|
rs201876461
|
0.00237
|
NM_022081.6(HPS4):c.696G>A (p.Pro232=)
|
rs3747132
|
0.00237
|
NM_012388.4(BLOC1S6):c.82+10A>G
|
rs370370639
|
0.00235
|
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_003664.5(AP3B1):c.2730T>C (p.Thr910=)
|
rs143527588
|
0.00220
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_022081.6(HPS4):c.*1687A>G
|
rs3752588
|
0.00207
|
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)
|
rs115892142
|
0.00200
|
NM_000195.5(HPS1):c.*1326C>A
|
rs146022441
|
0.00195
|
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)
|
rs116143727
|
0.00193
|
NM_022081.6(HPS4):c.15C>T (p.Thr5=)
|
rs144622501
|
0.00193
|
NM_181507.2(HPS5):c.-75A>G
|
rs193106100
|
0.00192
|
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)
|
rs147435410
|
0.00184
|
NM_181507.2(HPS5):c.1635-4C>G
|
rs79009787
|
0.00184
|
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)
|
rs200584437
|
0.00183
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_000096.4(CP):c.*1081T>A
|
rs188137938
|
0.00174
|
NM_003664.5(AP3B1):c.*44G>A
|
rs182487478
|
0.00174
|
NM_181507.2(HPS5):c.309A>G (p.Glu103=)
|
rs77722090
|
0.00163
|
NM_022081.6(HPS4):c.-185A>G
|
rs188205202
|
0.00154
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_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.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_012388.4(BLOC1S6):c.224+17C>A
|
rs142188315
|
0.00126
|
NM_000195.5(HPS1):c.*719T>C
|
rs557194861
|
0.00125
|
NM_000195.5(HPS1):c.557C>T (p.Ala186Val)
|
rs1801286
|
0.00125
|
NM_022081.6(HPS4):c.*1253G>A
|
rs534586940
|
0.00121
|
NM_003664.5(AP3B1):c.375+11G>A
|
rs190638302
|
0.00114
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
NM_181507.2(HPS5):c.2562-14G>C
|
rs199999276
|
0.00107
|
NM_022081.6(HPS4):c.-585T>G
|
rs187762406
|
0.00105
|
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_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
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_181507.2(HPS5):c.*70C>T
|
rs371535842
|
0.00087
|
NM_022081.6(HPS4):c.888C>T (p.Asn296=)
|
rs138343171
|
0.00086
|
NM_022081.6(HPS4):c.*1387T>A
|
rs3752590
|
0.00082
|
NM_022081.5(HPS4):c.-628C>G
|
rs56821996
|
0.00078
|
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)
|
rs201808262
|
0.00076
|
NM_022081.6(HPS4):c.*769G>A
|
rs187297219
|
0.00071
|
NM_024747.6(HPS6):c.1692C>T (p.Pro564=)
|
rs147449083
|
0.00070
|
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_032383.5(HPS3):c.884+7T>C
|
rs202215373
|
0.00058
|
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp)
|
rs75482179
|
0.00056
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00054
|
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_012388.4(BLOC1S6):c.252A>T (p.Thr84=)
|
rs114872740
|
0.00047
|
NM_022081.6(HPS4):c.-395A>C
|
rs147631281
|
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_022081.5(HPS4):c.-661G>T
|
rs753668169
|
0.00045
|
NM_032383.5(HPS3):c.*95A>C
|
rs1013031553
|
0.00045
|
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly)
|
rs141366997
|
0.00043
|
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_022081.6(HPS4):c.*751G>A
|
rs190837977
|
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_032383.5(HPS3):c.158A>G (p.Gln53Arg)
|
rs199663930
|
0.00036
|
NM_181507.2(HPS5):c.986-5C>T
|
rs201439984
|
0.00036
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
NM_022081.6(HPS4):c.*1236G>A
|
rs1356149759
|
0.00035
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
NM_032383.5(HPS3):c.2364A>G (p.Ala788=)
|
rs149563235
|
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_032383.5(HPS3):c.2196C>T (p.His732=)
|
rs148398659
|
0.00028
|
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_032383.5(HPS3):c.1821C>G (p.Ile607Met)
|
rs148168280
|
0.00024
|
NM_181507.2(HPS5):c.*688A>G
|
rs145507598
|
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_181507.2(HPS5):c.*362G>A
|
rs148862838
|
0.00021
|
NM_000195.5(HPS1):c.118-19T>A
|
rs758750874
|
0.00020
|
NM_000195.5(HPS1):c.1801C>T (p.Leu601=)
|
rs368146160
|
0.00020
|
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.1900G>A (p.Glu634Lys)
|
rs143204089
|
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_003664.5(AP3B1):c.402C>T (p.Ser134=)
|
rs144761256
|
0.00018
|
NM_001261826.3(AP3D1):c.2001+6C>T
|
rs376715473
|
0.00017
|
NM_003664.5(AP3B1):c.*482C>T
|
rs538570213
|
0.00017
|
NM_003664.5(AP3B1):c.1995A>G (p.Lys665=)
|
rs201097736
|
0.00017
|
NM_012388.4(BLOC1S6):c.51C>G (p.Pro17=)
|
rs150470765
|
0.00017
|
NM_022081.6(HPS4):c.1680G>A (p.Pro560=)
|
rs527653764
|
0.00017
|
NM_032383.5(HPS3):c.1769G>A (p.Arg590His)
|
rs145158238
|
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_032122.5(DTNBP1):c.512-16T>C
|
rs112527545
|
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.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_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.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
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.1650+18dup
|
rs766343354
|
0.00011
|
NM_003664.5(AP3B1):c.1650+20C>G
|
rs374194943
|
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_000195.5(HPS1):c.507+15C>T
|
rs374761960
|
0.00010
|
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.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_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_003664.5(AP3B1):c.942+17A>G
|
rs377061172
|
0.00009
|
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile)
|
rs574333116
|
0.00009
|
NM_012388.4(BLOC1S6):c.318T>C (p.Ala106=)
|
rs752899247
|
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_003664.5(AP3B1):c.2424T>C (p.Asp808=)
|
rs144240072
|
0.00008
|
NM_003664.5(AP3B1):c.2993-15C>A
|
rs202232687
|
0.00008
|
NM_012388.4(BLOC1S6):c.82+6del
|
rs779246428
|
0.00008
|
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_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.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu)
|
rs138751237
|
0.00007
|
NM_003664.5(AP3B1):c.2709A>G (p.Gln903=)
|
rs774631707
|
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.1773G>A (p.Thr591=)
|
rs559550536
|
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_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
|
rs200704721
|
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.2025T>C (p.Phe675=)
|
rs370684531
|
0.00006
|
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile)
|
rs372847987
|
0.00006
|
NM_003664.5(AP3B1):c.2578-12C>T
|
rs532846547
|
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.2029G>A (p.Glu677Lys)
|
rs373272114
|
0.00006
|
NM_024747.6(HPS6):c.277G>T (p.Val93Leu)
|
rs185571437
|
0.00006
|
NM_032122.5(DTNBP1):c.355+10A>G
|
rs368923800
|
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.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_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
NM_000195.5(HPS1):c.1860G>A (p.Gly620=)
|
rs376722018
|
0.00005
|
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln)
|
rs538482143
|
0.00005
|
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)
|
rs11189601
|
0.00005
|
NM_000195.5(HPS1):c.909A>G (p.Pro303=)
|
rs139169204
|
0.00005
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His)
|
rs777268122
|
0.00005
|
NM_003664.5(AP3B1):c.603+20G>A
|
rs377222228
|
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.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_000195.5(HPS1):c.*589G>A
|
rs540367850
|
0.00004
|
NM_000195.5(HPS1):c.*691G>A
|
rs1012331153
|
0.00004
|
NM_000195.5(HPS1):c.1164C>T (p.Ser388=)
|
rs747305546
|
0.00004
|
NM_000195.5(HPS1):c.1341C>G (p.Thr447=)
|
rs990213443
|
0.00004
|
NM_000195.5(HPS1):c.1532+14G>A
|
rs761708348
|
0.00004
|
NM_000195.5(HPS1):c.1940+9G>A
|
rs757142456
|
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.1821T>C (p.Leu607=)
|
rs768721394
|
0.00004
|
NM_003664.5(AP3B1):c.1837+16A>G
|
rs757331102
|
0.00004
|
NM_003664.5(AP3B1):c.1838-5A>G
|
rs779897317
|
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.536+20del
|
rs773391461
|
0.00004
|
NM_003664.5(AP3B1):c.648G>A (p.Pro216=)
|
rs773924247
|
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_012388.4(BLOC1S6):c.72G>A (p.Glu24=)
|
rs768535324
|
0.00004
|
NM_022081.6(HPS4):c.*1359A>T
|
rs886057298
|
0.00004
|
NM_022081.6(HPS4):c.*1576C>T
|
rs886057297
|
0.00004
|
NM_022081.6(HPS4):c.*842G>A
|
rs887874663
|
0.00004
|
NM_022081.6(HPS4):c.*946G>A
|
rs1014910744
|
0.00004
|
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile)
|
rs202222123
|
0.00004
|
NM_022081.6(HPS4):c.570C>T (p.Leu190=)
|
rs201820144
|
0.00004
|
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)
|
rs119471023
|
0.00004
|
NM_022081.6(HPS4):c.680C>T (p.Thr227Met)
|
rs201806802
|
0.00004
|
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)
|
rs281865164
|
0.00004
|
NM_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_032383.5(HPS3):c.957C>G (p.Pro319=)
|
rs751233801
|
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.1533-6C>T
|
rs751468611
|
0.00003
|
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys)
|
rs367656088
|
0.00003
|
NM_000195.5(HPS1):c.256-4G>A
|
rs372404024
|
0.00003
|
NM_000195.5(HPS1):c.387T>C (p.Leu129=)
|
rs777005528
|
0.00003
|
NM_000195.5(HPS1):c.468C>T (p.Tyr156=)
|
rs772192145
|
0.00003
|
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)
|
rs538274657
|
0.00003
|
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu)
|
rs773953162
|
0.00003
|
NM_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.1095+20G>A
|
rs1003488988
|
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.1473+11A>G
|
rs373481590
|
0.00003
|
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp)
|
rs758616866
|
0.00003
|
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=)
|
rs551799202
|
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.2992+10G>A
|
rs375250754
|
0.00003
|
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=)
|
rs746152289
|
0.00003
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
NM_003664.5(AP3B1):c.603+19C>T
|
rs201278348
|
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.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_032383.5(HPS3):c.2634G>A (p.Pro878=)
|
rs147593958
|
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_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter)
|
rs281865115
|
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.1857+2T>C
|
rs374689398
|
0.00002
|
NM_000195.5(HPS1):c.1896C>T (p.Ser632=)
|
rs760508807
|
0.00002
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
NM_000195.5(HPS1):c.303C>T (p.Ser101=)
|
rs769932435
|
0.00002
|
NM_000195.5(HPS1):c.355del (p.His119fs)
|
rs281865075
|
0.00002
|
NM_000195.5(HPS1):c.398+2T>C
|
rs1486224265
|
0.00002
|
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)
|
rs281865080
|
0.00002
|
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly)
|
rs979661361
|
0.00002
|
NM_003664.5(AP3B1):c.1050G>A (p.Gln350=)
|
rs760881363
|
0.00002
|
NM_003664.5(AP3B1):c.1167+15A>G
|
rs368393559
|
0.00002
|
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=)
|
rs574476271
|
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.1651-5A>G
|
rs1356238571
|
0.00002
|
NM_003664.5(AP3B1):c.1722A>C (p.Thr574=)
|
rs754956851
|
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.2700C>T (p.Val900=)
|
rs756834284
|
0.00002
|
NM_003664.5(AP3B1):c.2895-19T>A
|
rs779085657
|
0.00002
|
NM_003664.5(AP3B1):c.375+18T>A
|
rs775724254
|
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_003664.5(AP3B1):c.943-9A>T
|
rs776758618
|
0.00002
|
NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser)
|
rs200204287
|
0.00002
|
NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=)
|
rs761132701
|
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.2079C>T (p.Ser693=)
|
rs138189133
|
0.00002
|
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr)
|
rs549798245
|
0.00002
|
NM_022081.6(HPS4):c.877C>G (p.Leu293Val)
|
rs886057317
|
0.00002
|
NM_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_024747.6(HPS6):c.823C>T (p.Pro275Ser)
|
rs756325364
|
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.2527G>A (p.Val843Ile)
|
rs150765088
|
0.00002
|
NM_032383.5(HPS3):c.2589+1G>T
|
rs281865095
|
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.436G>T (p.Gly146Ter)
|
rs752837159
|
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.1862+1G>A
|
rs778500897
|
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_181507.2(HPS5):c.543del (p.Gln181fs)
|
rs755827664
|
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.-219C>G
|
rs574471533
|
0.00001
|
NM_000195.5(HPS1):c.1245C>T (p.Pro415=)
|
rs879797527
|
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.1315C>T (p.Arg439Ter)
|
rs1185127836
|
0.00001
|
NM_000195.5(HPS1):c.1383C>T (p.Pro461=)
|
rs763241171
|
0.00001
|
NM_000195.5(HPS1):c.1398-9C>T
|
rs773047618
|
0.00001
|
NM_000195.5(HPS1):c.1431G>A (p.Gln477=)
|
rs747509165
|
0.00001
|
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp)
|
rs755120094
|
0.00001
|
NM_000195.5(HPS1):c.1532+13C>T
|
rs202086569
|
0.00001
|
NM_000195.5(HPS1):c.1533-16G>A
|
rs763995634
|
0.00001
|
NM_000195.5(HPS1):c.1545G>A (p.Thr515=)
|
rs141596696
|
0.00001
|
NM_000195.5(HPS1):c.1598+11G>A
|
rs538837544
|
0.00001
|
NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys)
|
rs747984964
|
0.00001
|
NM_000195.5(HPS1):c.1744-2A>C
|
rs281865088
|
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.1807C>T (p.Gln603Ter)
|
rs886077189
|
0.00001
|
NM_000195.5(HPS1):c.1858-1G>A
|
rs758797992
|
0.00001
|
NM_000195.5(HPS1):c.1940+2T>C
|
rs972096803
|
0.00001
|
NM_000195.5(HPS1):c.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.391C>T (p.Arg131Ter)
|
rs281865076
|
0.00001
|
NM_000195.5(HPS1):c.399-5C>T
|
rs765780669
|
0.00001
|
NM_000195.5(HPS1):c.419C>T (p.Ala140Val)
|
rs1243685743
|
0.00001
|
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys)
|
rs727505003
|
0.00001
|
NM_000195.5(HPS1):c.498C>T (p.Phe166=)
|
rs375340317
|
0.00001
|
NM_000195.5(HPS1):c.507+14G>A
|
rs367821874
|
0.00001
|
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp)
|
rs757374077
|
0.00001
|
NM_000195.5(HPS1):c.570C>T (p.His190=)
|
rs1028581867
|
0.00001
|
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln)
|
rs746626404
|
0.00001
|
NM_000195.5(HPS1):c.741C>T (p.Ser247=)
|
rs772319786
|
0.00001
|
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)
|
rs745797275
|
0.00001
|
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter)
|
rs1846158787
|
0.00001
|
NM_000195.5(HPS1):c.819C>T (p.Ala273=)
|
rs775779922
|
0.00001
|
NM_000195.5(HPS1):c.867+11T>C
|
rs745977366
|
0.00001
|
NM_000195.5(HPS1):c.973A>G (p.Met325Val)
|
rs1406192587
|
0.00001
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=)
|
rs767889885
|
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.1020G>A (p.Val340=)
|
rs145787996
|
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.1040+14T>A
|
rs1355146687
|
0.00001
|
NM_003664.5(AP3B1):c.1040+20A>G
|
rs369301345
|
0.00001
|
NM_003664.5(AP3B1):c.1041-9G>T
|
rs1474245373
|
0.00001
|
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val)
|
rs1749668081
|
0.00001
|
NM_003664.5(AP3B1):c.1095+19C>T
|
rs377078977
|
0.00001
|
NM_003664.5(AP3B1):c.1140T>G (p.Thr380=)
|
rs752592265
|
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.1161A>T (p.Thr387=)
|
rs746601394
|
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.1236T>C (p.Tyr412=)
|
rs1468639815
|
0.00001
|
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg)
|
rs778910104
|
0.00001
|
NM_003664.5(AP3B1):c.1275T>C (p.Ile425=)
|
rs1174063218
|
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.1467T>C (p.Ser489=)
|
rs772984182
|
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.1650+14G>A
|
rs753974452
|
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.1837+10G>A
|
rs1028071929
|
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.1932C>T (p.Pro644=)
|
rs368771979
|
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.1968+9A>G
|
rs750895201
|
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.205-10T>A
|
rs1340696750
|
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.2250-13C>T
|
rs774882416
|
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.2502C>G (p.Pro834=)
|
rs747086403
|
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.2622T>G (p.Leu874=)
|
rs1471301912
|
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+14C>A
|
rs754832294
|
0.00001
|
NM_003664.5(AP3B1):c.2809+16C>T
|
rs951058281
|
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.2853T>C (p.Ile951=)
|
rs1263221940
|
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.2922T>C (p.Asn974=)
|
rs1256709729
|
0.00001
|
NM_003664.5(AP3B1):c.2928G>A (p.Gln976=)
|
rs1199672973
|
0.00001
|
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile)
|
rs780459865
|
0.00001
|
NM_003664.5(AP3B1):c.2992+20T>C
|
rs755171790
|
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.306G>C (p.Leu102=)
|
rs746322233
|
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.536+9A>G
|
rs771528600
|
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.855C>T (p.Asp285=)
|
rs79932334
|
0.00001
|
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)
|
rs759296897
|
0.00001
|
NM_003664.5(AP3B1):c.870G>A (p.Pro290=)
|
rs566729844
|
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.954A>C (p.Ala318=)
|
rs1744193916
|
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.144A>T (p.Ala48=)
|
rs372182517
|
0.00001
|
NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp)
|
rs1048656816
|
0.00001
|
NM_012388.4(BLOC1S6):c.186A>G (p.Pro62=)
|
rs1209687570
|
0.00001
|
NM_012388.4(BLOC1S6):c.224+11A>G
|
rs777210501
|
0.00001
|
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)
|
rs201348482
|
0.00001
|
NM_012388.4(BLOC1S6):c.264G>A (p.Glu88=)
|
rs761723925
|
0.00001
|
NM_012388.4(BLOC1S6):c.282A>G (p.Glu94=)
|
rs774700428
|
0.00001
|
NM_012388.4(BLOC1S6):c.313-9C>T
|
rs765107661
|
0.00001
|
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys)
|
rs1427586266
|
0.00001
|
NM_012388.4(BLOC1S6):c.335dup (p.His112fs)
|
rs762974622
|
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_012388.4(BLOC1S6):c.69G>A (p.Gly23=)
|
rs774804135
|
0.00001
|
NM_012388.4(BLOC1S6):c.75G>A (p.Pro25=)
|
rs1342184206
|
0.00001
|
NM_012388.4(BLOC1S6):c.82+8C>G
|
rs1386198190
|
0.00001
|
NM_022081.6(HPS4):c.*391G>A
|
rs886057315
|
0.00001
|
NM_022081.6(HPS4):c.-18A>G
|
rs1159855728
|
0.00001
|
NM_022081.6(HPS4):c.-523G>T
|
rs886057323
|
0.00001
|
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu)
|
rs777570870
|
0.00001
|
NM_022081.6(HPS4):c.1692C>T (p.Asp564=)
|
rs759632995
|
0.00001
|
NM_022081.6(HPS4):c.1758G>A (p.Leu586=)
|
rs1356334936
|
0.00001
|
NM_022081.6(HPS4):c.411G>A (p.Thr137=)
|
rs375462083
|
0.00001
|
NM_022081.6(HPS4):c.637G>A (p.Val213Ile)
|
rs766791829
|
0.00001
|
NM_022081.6(HPS4):c.687G>A (p.Glu229=)
|
rs758547221
|
0.00001
|
NM_022081.6(HPS4):c.706+1G>A
|
rs374343385
|
0.00001
|
NM_022081.6(HPS4):c.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.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.1498G>A (p.Gly500Arg)
|
rs772897521
|
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.779G>A (p.Gly260Glu)
|
rs1478574193
|
0.00001
|
NM_024747.6(HPS6):c.831C>G (p.Pro277=)
|
rs1368416172
|
0.00001
|
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)
|
rs104893945
|
0.00001
|
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)
|
rs367543105
|
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.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.1951A>G (p.Met651Val)
|
rs753269782
|
0.00001
|
NM_032383.5(HPS3):c.2078A>G (p.His693Arg)
|
rs759772353
|
0.00001
|
NM_032383.5(HPS3):c.2181C>T (p.Thr727=)
|
rs573058813
|
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.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.728_729insA (p.Ser244fs)
|
rs760577035
|
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.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
|
NM_181507.2(HPS5):c.825-14del
|
rs886048082
|
0.00001
|
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu)
|
rs1021933564
|
0.00001
|
11p15.1 deletion
|
|
|
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
|
|
|
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
|
|
|
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
|
|
|
NC_000005.10:g.(?_78020672)_(78089519_?)del
|
|
|
NC_000005.10:g.(?_78089373)_(78141339_?)del
|
|
|
NC_000005.9:g.(?_76115008)_(78281071_?)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_000096.4(CP):c.*828dup
|
rs35907111
|
|
NM_000195.4(HPS1):c.1602_1605delCCTA
|
|
|
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.1065del (p.Asn356fs)
|
|
|
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
|
|
|
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
|
|
|
NM_000195.5(HPS1):c.1090dup (p.Leu364fs)
|
rs2136156603
|
|
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile)
|
rs374952573
|
|
NM_000195.5(HPS1):c.1118C>A (p.Pro373His)
|
rs945250747
|
|
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
|
|
|
NM_000195.5(HPS1):c.1156-8A>C
|
rs1845516768
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
|
|
|
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
|
|
|
NM_000195.5(HPS1):c.1239G>A (p.Pro413=)
|
rs777125097
|
|
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs)
|
rs1303126934
|
|
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
|
|
|
NM_000195.5(HPS1):c.1335+1G>A
|
|
|
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)
|
rs1591045080
|
|
NM_000195.5(HPS1):c.1375del (p.Ser459fs)
|
rs281865086
|
|
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter)
|
rs786205464
|
|
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
|
|
|
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
|
|
|
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro)
|
rs757853476
|
|
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter)
|
rs552340796
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)
|
rs2296434
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.1473dup (p.Ser492fs)
|
rs1278834481
|
|
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter)
|
rs748888649
|
|
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)
|
rs769446880
|
|
NM_000195.5(HPS1):c.1519dup (p.Gln507fs)
|
|
|
NM_000195.5(HPS1):c.1527C>G (p.Leu509=)
|
rs17109850
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
NM_000195.5(HPS1):c.1533-17C>T
|
rs187227619
|
|
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile)
|
rs2136134351
|
|
NM_000195.5(HPS1):c.159G>T (p.Pro53=)
|
rs78504928
|
|
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
|
|
|
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.1657C>T (p.Gln553Ter)
|
rs1591031929
|
|
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.1771A>T (p.Arg591Ter)
|
|
|
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
|
|
|
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
|
|
|
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
|
|
|
NM_000195.5(HPS1):c.1855A>G (p.Met619Val)
|
rs1844649182
|
|
NM_000195.5(HPS1):c.1857+1G>A
|
rs2136102397
|
|
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)
|
rs1591120765
|
|
NM_000195.5(HPS1):c.1925del (p.Gly642fs)
|
rs2136083690
|
|
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
|
rs1239621485
|
|
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys)
|
rs1467653379
|
|
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
|
|
|
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys)
|
rs1844278117
|
|
NM_000195.5(HPS1):c.198G>C (p.Ser66=)
|
rs115265574
|
|
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)
|
rs121908385
|
|
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro)
|
rs1844268357
|
|
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu)
|
rs973290077
|
|
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
|
|
|
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg)
|
rs554593853
|
|
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)
|
rs1591002808
|
|
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
|
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000195.5(HPS1):c.238del (p.Leu80fs)
|
rs1453977337
|
|
NM_000195.5(HPS1):c.268C>G (p.Leu90Val)
|
rs1847174036
|
|
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
|
|
|
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.322A>T (p.Lys108Ter)
|
|
|
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter)
|
rs121908386
|
|
NM_000195.5(HPS1):c.398+5G>A
|
rs281865077
|
|
NM_000195.5(HPS1):c.399-14G>A
|
rs1260083432
|
|
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
|
|
|
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)
|
rs1846922474
|
|
NM_000195.5(HPS1):c.507+2T>G
|
rs1591109881
|
|
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)
|
rs1591093208
|
|
NM_000195.5(HPS1):c.533del (p.Gln178fs)
|
|
|
NM_000195.5(HPS1):c.54A>G (p.Thr18=)
|
rs531947687
|
|
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
|
|
|
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter)
|
rs747607498
|
|
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly)
|
rs565505287
|
|
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
|
|
|
NM_000195.5(HPS1):c.668+1G>A
|
|
|
NM_000195.5(HPS1):c.669-1G>C
|
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000195.5(HPS1):c.689G>A (p.Arg230His)
|
rs377752969
|
|
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu)
|
rs1450596874
|
|
NM_000195.5(HPS1):c.721del (p.Val241fs)
|
|
|
NM_000195.5(HPS1):c.723T>A (p.Val241=)
|
rs1846304734
|
|
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
|
|
|
NM_000195.5(HPS1):c.780dup (p.Arg261fs)
|
rs2136197089
|
|
NM_000195.5(HPS1):c.807del (p.Val270fs)
|
|
|
NM_000195.5(HPS1):c.808G>A (p.Val270Met)
|
rs145364430
|
|
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer)
|
rs1938751649
|
|
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln)
|
rs374679558
|
|
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
|
|
|
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg)
|
rs11592273
|
|
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg)
|
rs11592273
|
|
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)
|
rs11592273
|
|
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg)
|
rs1846147269
|
|
NM_000195.5(HPS1):c.852del (p.Ser285fs)
|
rs757883936
|
|
NM_000195.5(HPS1):c.875_878del (p.Asp292fs)
|
rs1846105381
|
|
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)
|
|
|
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter)
|
rs748939090
|
|
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser)
|
rs962689701
|
|
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys)
|
rs551074257
|
|
NM_000195.5(HPS1):c.962del (p.Gly321fs)
|
rs281865081
|
|
NM_000195.5(HPS1):c.962dup (p.Thr322fs)
|
rs281865081
|
|
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg)
|
rs886046592
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.987+1G>A
|
|
|
NM_000195.5(HPS1):c.988-44_1023delinsT
|
rs1591055649
|
|
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
|
rs750909242
|
|
NM_001261826.3(AP3D1):c.1523G>C (p.Arg508Pro)
|
rs768071199
|
|
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
|
|
|
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)
|
rs2018180805
|
|
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs)
|
rs879255646
|
|
NM_003664.4(AP3B1):c.-126C>G
|
rs760008097
|
|
NM_003664.4(AP3B1):c.1839_1842delTAGA
|
|
|
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.1020del (p.Arg341fs)
|
|
|
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.1040+17T>G
|
|
|
NM_003664.5(AP3B1):c.1041-15T>A
|
rs2112402058
|
|
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
|
|
|
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
|
|
|
NM_003664.5(AP3B1):c.1047G>A (p.Val349=)
|
|
|
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
|
|
|
NM_003664.5(AP3B1):c.105C>T (p.Gly35=)
|
|
|
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.1095+17C>G
|
|
|
NM_003664.5(AP3B1):c.1095+20G>T
|
|
|
NM_003664.5(AP3B1):c.1095+9G>A
|
|
|
NM_003664.5(AP3B1):c.1096-16T>C
|
|
|
NM_003664.5(AP3B1):c.1096-7A>T
|
rs2112401625
|
|
NM_003664.5(AP3B1):c.1096-9G>A
|
|
|
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs)
|
rs1744118616
|
|
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
|
|
|
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu)
|
rs2112401517
|
|
NM_003664.5(AP3B1):c.1125C>T (p.Phe375=)
|
|
|
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile)
|
rs757985695
|
|
NM_003664.5(AP3B1):c.1143T>C (p.Asp381=)
|
|
|
NM_003664.5(AP3B1):c.1167+11T>C
|
rs2112401362
|
|
NM_003664.5(AP3B1):c.1167+1_1167+2dup
|
rs2112401395
|
|
NM_003664.5(AP3B1):c.1167+8T>C
|
|
|
NM_003664.5(AP3B1):c.1168-12_1168-8del
|
|
|
NM_003664.5(AP3B1):c.1168-4A>G
|
|
|
NM_003664.5(AP3B1):c.1168-7A>G
|
rs780180977
|
|
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
|
|
|
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.1206_1207del (p.Ser403fs)
|
|
|
NM_003664.5(AP3B1):c.1219C>A (p.Arg407=)
|
rs768390608
|
|
NM_003664.5(AP3B1):c.1230+10C>T
|
rs1580431334
|
|
NM_003664.5(AP3B1):c.1230+12G>A
|
|
|
NM_003664.5(AP3B1):c.1230+13T>C
|
|
|
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.1231-9A>G
|
|
|
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
|
|
|
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr)
|
rs778910104
|
|
NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)
|
|
|
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
|
|
|
NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)
|
|
|
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
|
|
|
NM_003664.5(AP3B1):c.128+20T>C
|
|
|
NM_003664.5(AP3B1):c.128+4A>G
|
|
|
NM_003664.5(AP3B1):c.128+8G>A
|
|
|
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=)
|
rs954170484
|
|
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
|
|
|
NM_003664.5(AP3B1):c.129-14C>T
|
rs904956491
|
|
NM_003664.5(AP3B1):c.129-14_129-10del
|
rs982597895
|
|
NM_003664.5(AP3B1):c.129-14_129-12del
|
|
|
NM_003664.5(AP3B1):c.129-18del
|
|
|
NM_003664.5(AP3B1):c.129-18dup
|
rs201281724
|
|
NM_003664.5(AP3B1):c.129-19T>C
|
|
|
NM_003664.5(AP3B1):c.129-1G>A
|
|
|
NM_003664.5(AP3B1):c.129-9_129-8del
|
rs2112562563
|
|
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.1323G>A (p.Thr441=)
|
|
|
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
|
|
|
NM_003664.5(AP3B1):c.1347G>A (p.Leu449=)
|
|
|
NM_003664.5(AP3B1):c.1350G>C (p.Leu450=)
|
|
|
NM_003664.5(AP3B1):c.1356C>T (p.Asn452=)
|
|
|
NM_003664.5(AP3B1):c.1363+10C>T
|
rs2112370696
|
|
NM_003664.5(AP3B1):c.1363+1G>A
|
|
|
NM_003664.5(AP3B1):c.1364-15T>G
|
|
|
NM_003664.5(AP3B1):c.1364-2A>G
|
rs2112357253
|
|
NM_003664.5(AP3B1):c.1364-4del
|
rs1188997693
|
|
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.1408del (p.Gln470fs)
|
|
|
NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu)
|
rs556638927
|
|
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.1473+15A>C
|
|
|
NM_003664.5(AP3B1):c.1473+6T>C
|
rs1000881595
|
|
NM_003664.5(AP3B1):c.1474-18A>T
|
|
|
NM_003664.5(AP3B1):c.1474-2A>G
|
|
|
NM_003664.5(AP3B1):c.1474-7072_1650+921del
|
|
|
NM_003664.5(AP3B1):c.1491A>G (p.Ala497=)
|
rs2112327078
|
|
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
|
|
|
NM_003664.5(AP3B1):c.1509T>A (p.Ile503=)
|
rs1480759584
|
|
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
|
|
|
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter)
|
rs121908906
|
|
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.15T>C (p.Ser5=)
|
|
|
NM_003664.5(AP3B1):c.1605G>A (p.Gln535=)
|
rs200769344
|
|
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
|
|
|
NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)
|
|
|
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs)
|
rs1753129765
|
|
NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)
|
|
|
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
|
|
|
NM_003664.5(AP3B1):c.1650+12del
|
rs563512609
|
|
NM_003664.5(AP3B1):c.1651-11T>C
|
|
|
NM_003664.5(AP3B1):c.1651-14dup
|
rs1333771177
|
|
NM_003664.5(AP3B1):c.1651-1G>A
|
|
|
NM_003664.5(AP3B1):c.1651-2A>T
|
|
|
NM_003664.5(AP3B1):c.1651-9T>C
|
rs2112301377
|
|
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile)
|
rs770281960
|
|
NM_003664.5(AP3B1):c.1675T>C (p.Leu559=)
|
|
|
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His)
|
rs1752591935
|
|
NM_003664.5(AP3B1):c.1707C>T (p.Asp569=)
|
|
|
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
|
|
|
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
|
|
|
NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)
|
|
|
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg)
|
rs121908904
|
|
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.1754del (p.Val585fs)
|
rs869312836
|
|
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
|
|
|
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
|
|
|
NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)
|
|
|
NM_003664.5(AP3B1):c.177del (p.Lys59fs)
|
rs869312838
|
|
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
|
|
|
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser)
|
rs149263390
|
|
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val)
|
rs2112300913
|
|
NM_003664.5(AP3B1):c.1812A>G (p.Ala604=)
|
|
|
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
|
|
|
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn)
|
rs1752586022
|
|
NM_003664.5(AP3B1):c.1837+2T>C
|
rs2112300864
|
|
NM_003664.5(AP3B1):c.1838-13C>G
|
|
|
NM_003664.5(AP3B1):c.1838-16T>C
|
|
|
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.1852C>T (p.Gln618Ter)
|
|
|
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.1878C>T (p.Leu626=)
|
|
|
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
|
|
|
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile)
|
rs1752538898
|
|
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
|
|
|
NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)
|
|
|
NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)
|
|
|
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
|
|
|
NM_003664.5(AP3B1):c.1932C>A (p.Pro644=)
|
|
|
NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)
|
|
|
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
|
|
|
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
|
|
|
NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)
|
|
|
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu)
|
rs755219130
|
|
NM_003664.5(AP3B1):c.1968+8del
|
rs2112298486
|
|
NM_003664.5(AP3B1):c.1969-17T>C
|
|
|
NM_003664.5(AP3B1):c.1969-20T>A
|
rs1394988514
|
|
NM_003664.5(AP3B1):c.1969-20T>C
|
rs1394988514
|
|
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
|
|
|
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter)
|
rs121908907
|
|
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.2001G>A (p.Lys667=)
|
|
|
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.2034A>G (p.Glu678=)
|
rs766320781
|
|
NM_003664.5(AP3B1):c.204+14T>A
|
|
|
NM_003664.5(AP3B1):c.205-10del
|
|
|
NM_003664.5(AP3B1):c.205-12T>C
|
|
|
NM_003664.5(AP3B1):c.205-20C>T
|
|
|
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
|
|
|
NM_003664.5(AP3B1):c.2077+18T>C
|
|
|
NM_003664.5(AP3B1):c.2078-11C>T
|
|
|
NM_003664.5(AP3B1):c.2078-1G>A
|
|
|
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
|
|
|
NM_003664.5(AP3B1):c.2088T>C (p.Ser696=)
|
rs200618231
|
|
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn)
|
rs886060772
|
|
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
|
|
|
NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)
|
|
|
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=)
|
rs35976098
|
|
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.213A>G (p.Ala71=)
|
|
|
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg)
|
rs1365271615
|
|
NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)
|
|
|
NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)
|
|
|
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys)
|
rs2112260253
|
|
NM_003664.5(AP3B1):c.2190G>A (p.Arg730=)
|
rs2112260185
|
|
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
|
|
|
NM_003664.5(AP3B1):c.2202A>C (p.Leu734=)
|
|
|
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
|
|
|
NM_003664.5(AP3B1):c.2220C>T (p.Ala740=)
|
|
|
NM_003664.5(AP3B1):c.2250-6G>A
|
|
|
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.2297del (p.Asp766fs)
|
|
|
NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)
|
|
|
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.2354_2355del (p.Glu785fs)
|
|
|
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro)
|
rs1747105618
|
|
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs)
|
rs2112518616
|
|
NM_003664.5(AP3B1):c.2382C>T (p.Ser794=)
|
rs920648897
|
|
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile)
|
rs770603726
|
|
NM_003664.5(AP3B1):c.2397+7del
|
|
|
NM_003664.5(AP3B1):c.2398-12del
|
|
|
NM_003664.5(AP3B1):c.2398-16A>G
|
|
|
NM_003664.5(AP3B1):c.2398-18A>G
|
|
|
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
|
|
|
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
|
|
|
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly)
|
rs886060771
|
|
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)
|
rs199702315
|
|
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr)
|
rs1028498771
|
|
NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)
|
|
|
NM_003664.5(AP3B1):c.2433T>C (p.Pro811=)
|
rs2112233233
|
|
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
|
|
|
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val)
|
rs1751097725
|
|
NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)
|
|
|
NM_003664.5(AP3B1):c.2470+9dup
|
|
|
NM_003664.5(AP3B1):c.2471-16G>A
|
rs760243722
|
|
NM_003664.5(AP3B1):c.2471-16G>C
|
|
|
NM_003664.5(AP3B1):c.2471-20A>G
|
|
|
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser)
|
rs1580331287
|
|
NM_003664.5(AP3B1):c.2478A>G (p.Pro826=)
|
|
|
NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)
|
|
|
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.2568A>G (p.Ser856=)
|
|
|
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
|
|
|
NM_003664.5(AP3B1):c.2577+9T>C
|
|
|
NM_003664.5(AP3B1):c.2578-7G>A
|
|
|
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
|
|
|
NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)
|
|
|
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met)
|
rs1398038084
|
|
NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)
|
|
|
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.2640del (p.Gly881fs)
|
|
|
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>A (p.Gln891=)
|
rs770455413
|
|
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.2675_2679del (p.Pro892fs)
|
|
|
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile)
|
rs1747942141
|
|
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
|
|
|
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs)
|
rs2112100310
|
|
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
|
|
|
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser)
|
rs868369063
|
|
NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys)
|
rs869312835
|
|
NM_003664.5(AP3B1):c.2715A>G (p.Thr905=)
|
|
|
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
|
|
|
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile)
|
rs1747940185
|
|
NM_003664.5(AP3B1):c.2730T>G (p.Thr910=)
|
|
|
NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)
|
|
|
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
|
|
|
NM_003664.5(AP3B1):c.2738del (p.Lys913fs)
|
rs2112100217
|
|
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
|
|
|
NM_003664.5(AP3B1):c.2757del (p.Ile919fs)
|
rs2112100189
|
|
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.2769A>G (p.Lys923=)
|
rs201179527
|
|
NM_003664.5(AP3B1):c.2772T>A (p.Leu924=)
|
|
|
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+18A>G
|
|
|
NM_003664.5(AP3B1):c.279+19A>G
|
rs756610617
|
|
NM_003664.5(AP3B1):c.2793T>C (p.His931=)
|
rs2112100041
|
|
NM_003664.5(AP3B1):c.280-14_280-13dup
|
rs5868908
|
|
NM_003664.5(AP3B1):c.280-16G>T
|
|
|
NM_003664.5(AP3B1):c.280-2A>G
|
|
|
NM_003664.5(AP3B1):c.280-4_280-3insG
|
|
|
NM_003664.5(AP3B1):c.280-5A>T
|
|
|
NM_003664.5(AP3B1):c.280-6T>A
|
|
|
NM_003664.5(AP3B1):c.280-6del
|
rs5868908
|
|
NM_003664.5(AP3B1):c.280-6dup
|
rs5868908
|
|
NM_003664.5(AP3B1):c.2801del (p.Asn934fs)
|
rs2112100020
|
|
NM_003664.5(AP3B1):c.2809+15T>C
|
|
|
NM_003664.5(AP3B1):c.2809+20T>G
|
rs2112099938
|
|
NM_003664.5(AP3B1):c.2810-10T>C
|
|
|
NM_003664.5(AP3B1):c.2810-7T>A
|
rs1747713195
|
|
NM_003664.5(AP3B1):c.2810-9A>G
|
|
|
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro)
|
rs1002296977
|
|
NM_003664.5(AP3B1):c.2823T>C (p.Pro941=)
|
|
|
NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)
|
|
|
NM_003664.5(AP3B1):c.2856C>T (p.Asp952=)
|
rs912620993
|
|
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+10A>G
|
|
|
NM_003664.5(AP3B1):c.2894+1G>T
|
|
|
NM_003664.5(AP3B1):c.2894+6T>C
|
|
|
NM_003664.5(AP3B1):c.2895-12G>T
|
|
|
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
|
|
|
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.2907T>C (p.Asp969=)
|
|
|
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.2993-12T>C
|
|
|
NM_003664.5(AP3B1):c.2993-3C>T
|
rs1746824105
|
|
NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)
|
|
|
NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)
|
|
|
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)
|
rs111935323
|
|
NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)
|
|
|
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.310C>T (p.Arg104Ter)
|
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.3123T>C (p.Asn1041=)
|
rs1561354415
|
|
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg)
|
rs2112054033
|
|
NM_003664.5(AP3B1):c.3131+18C>T
|
|
|
NM_003664.5(AP3B1):c.3131+19G>C
|
rs769957838
|
|
NM_003664.5(AP3B1):c.3132-16C>T
|
|
|
NM_003664.5(AP3B1):c.3132-5T>C
|
rs2112028477
|
|
NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=)
|
rs748447113
|
|
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
|
|
|
NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=)
|
rs751258161
|
|
NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)
|
|
|
NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)
|
|
|
NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=)
|
rs1192574805
|
|
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
|
rs1397315776
|
|
NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)
|
|
|
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala)
|
rs137901104
|
|
NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
|
|
|
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.364C>T (p.Arg122Ter)
|
|
|
NM_003664.5(AP3B1):c.376-11A>C
|
|
|
NM_003664.5(AP3B1):c.376-13G>A
|
rs1185982935
|
|
NM_003664.5(AP3B1):c.387A>T (p.Gln129His)
|
rs1229682546
|
|
NM_003664.5(AP3B1):c.39A>G (p.Gly13=)
|
rs1488407842
|
|
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.513C>G (p.Ala171=)
|
rs2112494604
|
|
NM_003664.5(AP3B1):c.529T>C (p.Leu177=)
|
|
|
NM_003664.5(AP3B1):c.536+8C>A
|
|
|
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
|
|
|
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.604-17A>G
|
|
|
NM_003664.5(AP3B1):c.63T>C (p.Gly21=)
|
rs776252237
|
|
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.681C>G (p.Arg227=)
|
|
|
NM_003664.5(AP3B1):c.702G>T (p.Val234=)
|
rs1745952689
|
|
NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
|
rs779084730
|
|
NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter)
|
rs869312837
|
|
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.723G>A (p.Gln241=)
|
|
|
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
|
|
|
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.738C>T (p.His246=)
|
rs912124016
|
|
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile)
|
rs2112607227
|
|
NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
|
|
|
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
|
|
|
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
|
|
|
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
|
|
|
NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
|
|
|
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu)
|
rs1260956613
|
|
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
|
|
|
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter)
|
rs1745947620
|
|
NM_003664.5(AP3B1):c.786+15G>A
|
|
|
NM_003664.5(AP3B1):c.786+1G>A
|
|
|
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.84T>A (p.Ile28=)
|
|
|
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.894A>G (p.Arg298=)
|
rs1580453466
|
|
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
|
|
|
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter)
|
rs121908905
|
|
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.915G>A (p.Lys305=)
|
rs751927249
|
|
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser)
|
rs1456578906
|
|
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
|
|
|
NM_003664.5(AP3B1):c.942+17A>T
|
|
|
NM_003664.5(AP3B1):c.942+1G>T
|
|
|
NM_003664.5(AP3B1):c.942+8A>G
|
|
|
NM_003664.5(AP3B1):c.943-9A>G
|
rs776758618
|
|
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.957T>G (p.Val319=)
|
rs2112405584
|
|
NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
|
|
|
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
|
|
|
NM_003664.5(AP3B1):c.975C>T (p.His325=)
|
rs2112405548
|
|
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.*2818ACAA[6]
|
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.123C>T (p.Asp41=)
|
rs2140904529
|
|
NM_012388.4(BLOC1S6):c.141A>G (p.Lys47=)
|
rs2140904555
|
|
NM_012388.4(BLOC1S6):c.147G>A (p.Val49=)
|
|
|
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.157del (p.Ala53fs)
|
|
|
NM_012388.4(BLOC1S6):c.171T>C (p.Leu57=)
|
|
|
NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=)
|
rs2140904620
|
|
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.198A>G (p.Arg66=)
|
rs1329457663
|
|
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)
|
rs772475341
|
|
NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)
|
|
|
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
|
|
|
NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu)
|
rs775671194
|
|
NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)
|
|
|
NM_012388.4(BLOC1S6):c.21G>A (p.Ser7=)
|
|
|
NM_012388.4(BLOC1S6):c.224+10T>C
|
|
|
NM_012388.4(BLOC1S6):c.224+15A>C
|
|
|
NM_012388.4(BLOC1S6):c.224+17C>T
|
|
|
NM_012388.4(BLOC1S6):c.224+18C>A
|
rs2140904710
|
|
NM_012388.4(BLOC1S6):c.224+18C>G
|
|
|
NM_012388.4(BLOC1S6):c.225-13G>A
|
rs1010778337
|
|
NM_012388.4(BLOC1S6):c.225-14_225-13insA
|
rs1894325968
|
|
NM_012388.4(BLOC1S6):c.225-16T>C
|
|
|
NM_012388.4(BLOC1S6):c.225-17G>A
|
|
|
NM_012388.4(BLOC1S6):c.225-19C>T
|
|
|
NM_012388.4(BLOC1S6):c.225-4dup
|
|
|
NM_012388.4(BLOC1S6):c.240A>G (p.Val80=)
|
|
|
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
|
|
|
NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)
|
|
|
NM_012388.4(BLOC1S6):c.253C>T (p.Leu85=)
|
|
|
NM_012388.4(BLOC1S6):c.255G>A (p.Leu85=)
|
|
|
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.261dup (p.Glu88fs)
|
|
|
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.296T>A (p.Leu99Ter)
|
|
|
NM_012388.4(BLOC1S6):c.309T>C (p.Ala103=)
|
|
|
NM_012388.4(BLOC1S6):c.312+17T>A
|
|
|
NM_012388.4(BLOC1S6):c.312+1G>T
|
|
|
NM_012388.4(BLOC1S6):c.312+7A>G
|
|
|
NM_012388.4(BLOC1S6):c.313-11dup
|
|
|
NM_012388.4(BLOC1S6):c.313-1G>A
|
|
|
NM_012388.4(BLOC1S6):c.313-3A>T
|
rs1366252583
|
|
NM_012388.4(BLOC1S6):c.313-7T>C
|
|
|
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met)
|
rs1595560288
|
|
NM_012388.4(BLOC1S6):c.327A>G (p.Lys109=)
|
rs2140918976
|
|
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
|
|
|
NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln)
|
rs370118149
|
|
NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)
|
|
|
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)
|
rs2140918991
|
|
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
|
|
|
NM_012388.4(BLOC1S6):c.343T>C (p.Leu115=)
|
rs2140919014
|
|
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.367C>T (p.Leu123=)
|
|
|
NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=)
|
rs1426071548
|
|
NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)
|
|
|
NM_012388.4(BLOC1S6):c.384A>G (p.Lys128=)
|
|
|
NM_012388.4(BLOC1S6):c.387A>G (p.Thr129=)
|
rs1188577933
|
|
NM_012388.4(BLOC1S6):c.399+10A>G
|
|
|
NM_012388.4(BLOC1S6):c.399+13T>A
|
|
|
NM_012388.4(BLOC1S6):c.399+14T>G
|
rs2140919137
|
|
NM_012388.4(BLOC1S6):c.399+18dup
|
|
|
NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)
|
|
|
NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile)
|
rs1242644356
|
|
NM_012388.4(BLOC1S6):c.400-13T>C
|
|
|
NM_012388.4(BLOC1S6):c.400-16T>A
|
|
|
NM_012388.4(BLOC1S6):c.400-17T>A
|
|
|
NM_012388.4(BLOC1S6):c.400-5C>T
|
|
|
NM_012388.4(BLOC1S6):c.400-6A>C
|
|
|
NM_012388.4(BLOC1S6):c.400-6dup
|
rs1255019451
|
|
NM_012388.4(BLOC1S6):c.400-7A>G
|
|
|
NM_012388.4(BLOC1S6):c.400-8del
|
|
|
NM_012388.4(BLOC1S6):c.400-8dup
|
rs373061008
|
|
NM_012388.4(BLOC1S6):c.408A>G (p.Ala136=)
|
|
|
NM_012388.4(BLOC1S6):c.408A>T (p.Ala136=)
|
rs765691244
|
|
NM_012388.4(BLOC1S6):c.417G>A (p.Leu139=)
|
|
|
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>A (p.Arg15=)
|
|
|
NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp)
|
rs141581736
|
|
NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)
|
|
|
NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)
|
|
|
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln)
|
rs145937442
|
|
NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)
|
|
|
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.507C>T (p.Ala169=)
|
|
|
NM_012388.4(BLOC1S6):c.51C>T (p.Pro17=)
|
|
|
NM_012388.4(BLOC1S6):c.63G>A (p.Glu21=)
|
|
|
NM_012388.4(BLOC1S6):c.66C>T (p.Ala22=)
|
|
|
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
|
|
|
NM_012388.4(BLOC1S6):c.69G>C (p.Gly23=)
|
|
|
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
|
|
|
NM_012388.4(BLOC1S6):c.82+11T>C
|
|
|
NM_012388.4(BLOC1S6):c.82+12C>T
|
rs763484836
|
|
NM_012388.4(BLOC1S6):c.82+14G>T
|
|
|
NM_012388.4(BLOC1S6):c.82+17G>A
|
|
|
NM_012388.4(BLOC1S6):c.82+1G>A
|
|
|
NM_012388.4(BLOC1S6):c.82+1G>T
|
|
|
NM_012388.4(BLOC1S6):c.82+1_82+8del
|
|
|
NM_012388.4(BLOC1S6):c.82+4C>G
|
|
|
NM_012388.4(BLOC1S6):c.82+9_82+12del
|
|
|
NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)
|
|
|
NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)
|
|
|
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
|
|
|
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)
|
|
|
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[4]
|
rs10573454
|
|
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.1060T>A (p.Ser354Thr)
|
rs114685298
|
|
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=)
|
rs386820399
|
|
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs)
|
rs773968140
|
|
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)
|
|
|
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
NM_022081.6(HPS4):c.1152del (p.Gly385fs)
|
rs2146555632
|
|
NM_022081.6(HPS4):c.1156del (p.His386fs)
|
|
|
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr)
|
rs2091003499
|
|
NM_022081.6(HPS4):c.132+1G>A
|
|
|
NM_022081.6(HPS4):c.133-1G>A
|
|
|
NM_022081.6(HPS4):c.133-2A>G
|
|
|
NM_022081.6(HPS4):c.133-2A>T
|
|
|
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)
|
|
|
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)
|
|
|
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)
|
rs372020804
|
|
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
|
|
|
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter)
|
rs150216540
|
|
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.1713+1G>A
|
rs2146534178
|
|
NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs)
|
|
|
NM_022081.6(HPS4):c.177A>C (p.Gly59=)
|
rs886057320
|
|
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)
|
|
|
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter)
|
rs119471021
|
|
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)
|
|
|
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs)
|
rs752827715
|
|
NM_022081.6(HPS4):c.2054del (p.Pro685fs)
|
rs2146241760
|
|
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs)
|
rs281865100
|
|
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)
|
|
|
NM_022081.6(HPS4):c.272T>C (p.Leu91Pro)
|
rs2146925564
|
|
NM_022081.6(HPS4):c.276+5G>A
|
rs1602079277
|
|
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)
|
|
|
NM_022081.6(HPS4):c.348dup (p.Asn117Ter)
|
|
|
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
|
|
|
NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)
|
|
|
NM_022081.6(HPS4):c.41+1_41+3del
|
|
|
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter)
|
rs119471024
|
|
NM_022081.6(HPS4):c.412del (p.Glu138fs)
|
|
|
NM_022081.6(HPS4):c.42-2A>C
|
|
|
NM_022081.6(HPS4):c.42-2A>G
|
|
|
NM_022081.6(HPS4):c.430G>T (p.Glu144Ter)
|
|
|
NM_022081.6(HPS4):c.446del (p.Asn149fs)
|
|
|
NM_022081.6(HPS4):c.461A>G (p.His154Arg)
|
rs281865098
|
|
NM_022081.6(HPS4):c.47del (p.Asn16fs)
|
|
|
NM_022081.6(HPS4):c.502-2A>T
|
|
|
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter)
|
rs119471022
|
|
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
|
|
|
NM_022081.6(HPS4):c.57del (p.Leu20fs)
|
rs281865097
|
|
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile)
|
rs886057319
|
|
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter)
|
rs119471025
|
|
NM_022081.6(HPS4):c.669+1G>A
|
|
|
NM_022081.6(HPS4):c.673_686del
|
|
|
NM_022081.6(HPS4):c.706+10G>A
|
rs2088578226
|
|
NM_022081.6(HPS4):c.706+15G>T
|
rs762647750
|
|
NM_022081.6(HPS4):c.727G>A (p.Val243Ile)
|
rs749572804
|
|
NM_022081.6(HPS4):c.741T>A (p.Pro247=)
|
rs35126034
|
|
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)
|
|
|
NM_022081.6(HPS4):c.803+1G>A
|
|
|
NM_022081.6(HPS4):c.834_865del (p.Asp278fs)
|
|
|
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)
|
|
|
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.1387C>T (p.Arg463Ter)
|
|
|
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.1556del (p.Gly519fs)
|
|
|
NM_024747.6(HPS6):c.155del (p.Val52fs)
|
rs1590262450
|
|
NM_024747.6(HPS6):c.1624del (p.Asp542fs)
|
rs1590263807
|
|
NM_024747.6(HPS6):c.1649del (p.Gly550fs)
|
rs1590263820
|
|
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.1931_1953del (p.Val644fs)
|
|
|
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.2028del (p.Glu677fs)
|
|
|
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)
|
rs2136333791
|
|
NM_024747.6(HPS6):c.229_232del (p.Ser77fs)
|
rs2136333814
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)
|
rs544314793
|
|
NM_024747.6(HPS6):c.283del (p.Val95fs)
|
rs1564899012
|
|
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.368del (p.Gly123fs)
|
|
|
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.60_64dup (p.Leu22fs)
|
rs752399257
|
|
NM_024747.6(HPS6):c.706_707del (p.Ser236fs)
|
rs756471925
|
|
NM_024747.6(HPS6):c.732A>G (p.Gly244=)
|
rs756521666
|
|
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter)
|
rs2136334244
|
|
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_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.177G>A (p.Trp59Ter)
|
rs727502866
|
|
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
|
|
|
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_032122.5(DTNBP1):c.872T>G (p.Leu291Ter)
|
rs2127784434
|
|
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.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.1128A>G (p.Ala376=)
|
rs1722738295
|
|
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.124G>T (p.Glu42Ter)
|
rs1553750097
|
|
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.199C>T (p.Leu67=)
|
rs546531255
|
|
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.2370C>G (p.Leu790=)
|
rs746304657
|
|
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.2459C>G (p.Pro820Arg)
|
rs1724018415
|
|
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)
|
rs1576695913
|
|
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter)
|
rs373037058
|
|
NM_032383.5(HPS3):c.2479C>T (p.Leu827=)
|
rs773017257
|
|
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.2788_2792del (p.Glu930fs)
|
|
|
NM_032383.5(HPS3):c.2796+1del
|
rs2108184819
|
|
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)
|
|
|
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)
|
rs1576708708
|
|
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)
|
|
|
NM_032383.5(HPS3):c.2887+18_2887+19dup
|
rs397710976
|
|
NM_032383.5(HPS3):c.2887+19dup
|
rs397710976
|
|
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.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.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.716T>G (p.Ile239Ser)
|
rs886058075
|
|
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.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.884+25del
|
rs10693502
|
|
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.*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.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.2036C>G (p.Ser679Ter)
|
rs779921624
|
|
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.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.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.2837+15del
|
rs886048076
|
|
NM_181507.2(HPS5):c.2837+1G>A
|
|
|
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.478-2A>G
|
|
|
NM_181507.2(HPS5):c.739dup (p.Glu247fs)
|
|
|
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
|
|
NM_201280.2:c.196-678_384+3483del
|
|
|
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)
|
|
|
NM_201280.3(BLOC1S5):c.345del (p.Val116fs)
|
rs1763106978
|
|
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs)
|
rs1568469902
|
|
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs)
|
rs1969482515
|
|
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)
|
rs1599746194
|
|
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del)
|
rs754841982
|
|
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs)
|
rs281865116
|
|
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser)
|
rs200799185
|
|
NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu)
|
|
|
nsv1067844
|
|
|