ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1959
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HGVS dbSNP gnomAD frequency
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

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