NM_022081.6(HPS4):c.*477C>T
|
rs76496430
|
0.00851
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
NM_001261826.3(AP3D1):c.463-4G>A
|
rs192634153
|
0.00324
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)
|
rs116143727
|
0.00193
|
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)
|
rs200584437
|
0.00183
|
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)
|
rs17853184
|
0.00144
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)
|
rs200459002
|
0.00091
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn)
|
rs150740880
|
0.00049
|
NM_000195.5(HPS1):c.473G>A (p.Arg158His)
|
rs140480324
|
0.00036
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
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_000195.5(HPS1):c.1796C>T (p.Thr599Met)
|
rs201076763
|
0.00030
|
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)
|
rs149039105
|
0.00025
|
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val)
|
rs202188533
|
0.00023
|
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)
|
rs149564550
|
0.00023
|
NM_000195.5(HPS1):c.118-19T>A
|
rs758750874
|
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_001261826.3(AP3D1):c.2001+6C>T
|
rs376715473
|
0.00017
|
NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr)
|
rs374389539
|
0.00016
|
NM_032122.5(DTNBP1):c.512-16T>C
|
rs112527545
|
0.00016
|
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu)
|
rs201886263
|
0.00015
|
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
|
rs142793392
|
0.00015
|
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_003664.5(AP3B1):c.1720A>G (p.Thr574Ala)
|
rs141789572
|
0.00013
|
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
NM_000195.5(HPS1):c.507+15C>T
|
rs374761960
|
0.00010
|
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.1951C>T (p.Arg651Cys)
|
rs375322422
|
0.00009
|
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)
|
rs754025975
|
0.00009
|
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)
|
rs781166596
|
0.00008
|
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
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_032122.5(DTNBP1):c.355+10A>G
|
rs368923800
|
0.00006
|
NM_032383.5(HPS3):c.159G>T (p.Gln53His)
|
rs774480483
|
0.00006
|
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_032383.5(HPS3):c.1163+1G>A
|
rs201227603
|
0.00005
|
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.1977C>T (p.Thr659=)
|
rs751349303
|
0.00004
|
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr)
|
rs367640909
|
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_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.692C>T (p.Pro231Leu)
|
rs773953162
|
0.00003
|
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
|
rs148160411
|
0.00003
|
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
|
rs763073715
|
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_000195.5(HPS1):c.1050G>T (p.Arg350Ser)
|
rs748998125
|
0.00002
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
NM_000195.5(HPS1):c.355del (p.His119fs)
|
rs281865075
|
0.00002
|
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly)
|
rs979661361
|
0.00002
|
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu)
|
rs1424373279
|
0.00002
|
NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser)
|
rs149568178
|
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_181507.2(HPS5):c.1862+1G>A
|
rs778500897
|
0.00002
|
NM_000195.5(HPS1):c.1245C>T (p.Pro415=)
|
rs879797527
|
0.00001
|
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu)
|
rs756067445
|
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.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.1744-2A>C
|
rs281865088
|
0.00001
|
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)
|
rs886077189
|
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.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.498C>T (p.Phe166=)
|
rs375340317
|
0.00001
|
NM_000195.5(HPS1):c.507+14G>A
|
rs367821874
|
0.00001
|
NM_000195.5(HPS1):c.570C>T (p.His190=)
|
rs1028581867
|
0.00001
|
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)
|
rs745797275
|
0.00001
|
NM_000195.5(HPS1):c.867+11T>C
|
rs745977366
|
0.00001
|
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=)
|
rs767889885
|
0.00001
|
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)
|
rs759296897
|
0.00001
|
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)
|
rs367543105
|
0.00001
|
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter)
|
rs755083879
|
0.00001
|
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)
|
rs369855073
|
0.00001
|
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)
|
rs765169755
|
0.00001
|
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)
|
rs1170514296
|
0.00001
|
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)
|
rs564959505
|
0.00001
|
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu)
|
rs1021933564
|
0.00001
|
NM_000195.5(HPS1):c.1118C>A (p.Pro373His)
|
rs945250747
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1239G>A (p.Pro413=)
|
rs777125097
|
|
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro)
|
rs757853476
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.1533-17C>T
|
rs187227619
|
|
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu)
|
rs1271147542
|
|
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.198G>C (p.Ser66=)
|
rs115265574
|
|
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.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp)
|
rs376557022
|
|
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)
|
rs1846922474
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu)
|
rs1450596874
|
|
NM_000195.5(HPS1):c.780dup (p.Arg261fs)
|
rs2136197089
|
|
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln)
|
rs374679558
|
|
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg)
|
rs11592273
|
|
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)
|
rs11592273
|
|
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys)
|
rs551074257
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)
|
rs1746480237
|
|
NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
|
rs779084730
|
|
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly)
|
rs147761913
|
|
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)
|
rs544314793
|
|
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro)
|
rs2108112412
|
|
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs)
|
rs745457191
|
|
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)
|
rs1277509410
|
|
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala)
|
rs922342164
|
|
NM_032383.5(HPS3):c.660_661del (p.Arg220fs)
|
rs1363164647
|
|
NM_181507.2(HPS5):c.1324-32dup
|
rs369116404
|
|
NM_181507.2(HPS5):c.2077del (p.Arg693fs)
|
rs746844529
|
|
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs)
|
rs397507169
|
|
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu)
|
rs201664625
|
|