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.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_032383.5(HPS3):c.1494G>A (p.Gln498=)
|
rs6440589
|
0.50726
|
NM_022081.6(HPS4):c.*1231C>T
|
rs56271395
|
0.35531
|
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val)
|
rs2014410
|
0.35365
|
NM_022081.6(HPS4):c.*1229C>T
|
rs6147576
|
0.33676
|
NM_003664.5(AP3B1):c.*107T>A
|
rs11552314
|
0.29901
|
NM_032383.5(HPS3):c.981A>G (p.Thr327=)
|
rs11718908
|
0.28006
|
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.1397+7G>C
|
rs2296432
|
0.20947
|
NM_000195.5(HPS1):c.1397+8G>T
|
rs2296433
|
0.20935
|
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)
|
rs4532349
|
0.18606
|
NM_032383.5(HPS3):c.2526C>T (p.His842=)
|
rs3732557
|
0.15600
|
NM_022081.6(HPS4):c.-530A>G
|
rs3747137
|
0.11724
|
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)
|
rs2296436
|
0.09989
|
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.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_032383.5(HPS3):c.970+7A>G
|
rs114029765
|
0.02580
|
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)
|
rs76433453
|
0.02452
|
NM_001271769.2(AP3B1):c.*588A>G
|
rs114954951
|
0.02413
|
NM_000096.4(CP):c.*137C>T
|
rs34228141
|
0.02012
|
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_022081.5(HPS4):c.-660C>T
|
rs34019374
|
0.01443
|
NM_000195.5(HPS1):c.159G>A (p.Pro53=)
|
rs78504928
|
0.01348
|
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)
|
rs78336249
|
0.01058
|
NM_000195.5(HPS1):c.255+9A>G
|
rs78927693
|
0.00885
|
NM_022081.6(HPS4):c.*1225T>C
|
rs886057311
|
0.00821
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln)
|
rs56378825
|
0.00761
|
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
NM_022081.6(HPS4):c.*1762G>A
|
rs139974836
|
0.00680
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)
|
rs34388030
|
0.00590
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val)
|
rs149640235
|
0.00498
|
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)
|
rs7914192
|
0.00426
|
NM_022081.6(HPS4):c.710C>T (p.Ala237Val)
|
rs77597168
|
0.00411
|
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)
|
rs62001052
|
0.00398
|
NM_212550.5(BLOC1S3):c.*155_*156insAA
|
rs570559399
|
0.00320
|
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_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_000195.5(HPS1):c.1532+5G>A
|
rs199874645
|
0.00273
|
NM_022081.6(HPS4):c.*1589C>A
|
rs117397456
|
0.00238
|
NM_022081.6(HPS4):c.696G>A (p.Pro232=)
|
rs3747132
|
0.00237
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)
|
rs116143727
|
0.00193
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_000195.5(HPS1):c.557C>T (p.Ala186Val)
|
rs1801286
|
0.00125
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
NM_032383.5(HPS3):c.51C>T (p.Pro17=)
|
rs141883346
|
0.00097
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)
|
rs201808262
|
0.00076
|
NM_032383.5(HPS3):c.*96TC[3]
|
rs1553756780
|
0.00063
|
NM_032383.5(HPS3):c.1152C>T (p.His384=)
|
rs113381494
|
0.00060
|
NM_032383.5(HPS3):c.884+7T>C
|
rs202215373
|
0.00058
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00054
|
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser)
|
rs116698870
|
0.00049
|
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly)
|
rs141366997
|
0.00043
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
NM_000195.5(HPS1):c.700C>T (p.Leu234=)
|
rs150444975
|
0.00039
|
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys)
|
rs529838933
|
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_032383.5(HPS3):c.158A>G (p.Gln53Arg)
|
rs199663930
|
0.00036
|
NM_032383.5(HPS3):c.2364A>G (p.Ala788=)
|
rs149563235
|
0.00034
|
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met)
|
rs201076763
|
0.00030
|
NM_032383.5(HPS3):c.2196C>T (p.His732=)
|
rs148398659
|
0.00028
|
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu)
|
rs371551313
|
0.00026
|
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met)
|
rs148168280
|
0.00024
|
NM_000195.5(HPS1):c.1801C>T (p.Leu601=)
|
rs368146160
|
0.00020
|
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met)
|
rs149620802
|
0.00019
|
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp)
|
rs752089199
|
0.00019
|
NM_032383.5(HPS3):c.1769G>A (p.Arg590His)
|
rs145158238
|
0.00017
|
NM_000195.5(HPS1):c.1286G>A (p.Arg429His)
|
rs201728087
|
0.00015
|
NM_000195.5(HPS1):c.366G>A (p.Leu122=)
|
rs147269809
|
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_000195.5(HPS1):c.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
|
rs775570414
|
0.00012
|
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)
|
rs370137287
|
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.179C>T (p.Thr60Met)
|
rs200004304
|
0.00009
|
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp)
|
rs3830014
|
0.00009
|
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
|
rs180729981
|
0.00009
|
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)
|
rs756295432
|
0.00008
|
NM_000195.5(HPS1):c.90C>T (p.Phe30=)
|
rs765362355
|
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_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.970C>G (p.Pro324Ala)
|
rs1055799878
|
0.00006
|
NM_032383.5(HPS3):c.1224G>A (p.Pro408=)
|
rs752942876
|
0.00006
|
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)
|
rs750402363
|
0.00006
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln)
|
rs538482143
|
0.00005
|
NM_032383.5(HPS3):c.1163+1G>A
|
rs201227603
|
0.00005
|
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.9C>T (p.Cys3=)
|
rs750909242
|
0.00004
|
NM_003664.5(AP3B1):c.388C>T (p.Leu130=)
|
rs138774723
|
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_000195.5(HPS1):c.1398-8G>A
|
rs375009475
|
0.00003
|
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys)
|
rs367656088
|
0.00003
|
NM_000195.5(HPS1):c.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.924C>T (p.Gly308=)
|
rs747955942
|
0.00003
|
NM_000195.5(HPS1):c.960G>A (p.Gly320=)
|
rs894529827
|
0.00003
|
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)
|
rs780183200
|
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_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.940A>G (p.Ser314Gly)
|
rs979661361
|
0.00002
|
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)
|
rs756325364
|
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.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.701G>A (p.Arg234Gln)
|
rs748904322
|
0.00002
|
NM_032383.5(HPS3):c.864C>T (p.His288=)
|
rs146928432
|
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_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.1315C>T (p.Arg439Ter)
|
rs1185127836
|
0.00001
|
NM_000195.5(HPS1):c.1431G>A (p.Gln477=)
|
rs747509165
|
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.1996G>A (p.Glu666Lys)
|
rs121908385
|
0.00001
|
NM_000195.5(HPS1):c.2037G>A (p.Leu679=)
|
rs773611107
|
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.472C>T (p.Arg158Cys)
|
rs727505003
|
0.00001
|
NM_000195.5(HPS1):c.741C>T (p.Ser247=)
|
rs772319786
|
0.00001
|
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu)
|
rs745797275
|
0.00001
|
NM_000195.5(HPS1):c.819C>T (p.Ala273=)
|
rs775779922
|
0.00001
|
NM_000195.5(HPS1):c.973A>G (p.Met325Val)
|
rs1406192587
|
0.00001
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)
|
rs201348482
|
0.00001
|
NM_022081.6(HPS4):c.765C>T (p.Ala255=)
|
rs886057318
|
0.00001
|
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg)
|
rs772897521
|
0.00001
|
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu)
|
rs1478574193
|
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.1838C>G (p.Ser613Ter)
|
rs755083879
|
0.00001
|
NM_032383.5(HPS3):c.1951A>G (p.Met651Val)
|
rs753269782
|
0.00001
|
NM_032383.5(HPS3):c.2181C>T (p.Thr727=)
|
rs573058813
|
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.2796+2T>C
|
rs1476066527
|
0.00001
|
NM_032383.5(HPS3):c.305C>A (p.Ser102Tyr)
|
rs1189649144
|
0.00001
|
NM_032383.5(HPS3):c.687C>A (p.Asn229Lys)
|
rs750964494
|
0.00001
|
NM_032383.5(HPS3):c.906G>A (p.Ser302=)
|
rs1157223288
|
0.00001
|
NM_032383.5(HPS3):c.970G>A (p.Gly324Ser)
|
rs370943042
|
0.00001
|
NM_181507.2(HPS5):c.825-14del
|
rs886048082
|
0.00001
|
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
|
|
|
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
|
|
|
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.*1215_*1217delinsTCC
|
rs386746903
|
|
NM_000195.5(HPS1):c.-153del
|
rs886046593
|
|
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile)
|
rs374952573
|
|
NM_000195.5(HPS1):c.1156-8A>C
|
rs1845516768
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)
|
rs1591045080
|
|
NM_000195.5(HPS1):c.1375del (p.Ser459fs)
|
rs281865086
|
|
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.1507C>T (p.Gln503Ter)
|
rs748888649
|
|
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)
|
rs769446880
|
|
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.159G>T (p.Pro53=)
|
rs78504928
|
|
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
|
rs748106098
|
|
NM_000195.5(HPS1):c.1646G>A (p.Arg549His)
|
rs753635327
|
|
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala)
|
rs1314012716
|
|
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro)
|
rs1302271283
|
|
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
|
|
|
NM_000195.5(HPS1):c.1855A>G (p.Met619Val)
|
rs1844649182
|
|
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
|
rs1239621485
|
|
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys)
|
rs1467653379
|
|
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.2056C>T (p.Gln686Ter)
|
rs1591002808
|
|
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.307G>T (p.Gly103Trp)
|
rs771121322
|
|
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly)
|
rs376557022
|
|
NM_000195.5(HPS1):c.398+5G>A
|
rs281865077
|
|
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)
|
rs1591093208
|
|
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly)
|
rs565505287
|
|
NM_000195.5(HPS1):c.723T>A (p.Val241=)
|
rs1846304734
|
|
NM_000195.5(HPS1):c.808G>A (p.Val270Met)
|
rs145364430
|
|
NM_000195.5(HPS1):c.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.928C>T (p.Gln310Ter)
|
rs748939090
|
|
NM_000195.5(HPS1):c.962del (p.Gly321fs)
|
rs281865081
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
|
|
|
NM_003664.5(AP3B1):c.*552TAAA[1]
|
rs886060767
|
|
NM_003664.5(AP3B1):c.*69dup
|
rs886060769
|
|
NM_003664.5(AP3B1):c.1651-2A>T
|
|
|
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
|
|
|
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)
|
rs199702315
|
|
NM_003664.5(AP3B1):c.280-6dup
|
rs5868908
|
|
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)
|
rs111935323
|
|
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.332_333del (p.Tyr111fs)
|
rs2140918991
|
|
NM_022081.6(HPS4):c.*1024_*1028del
|
rs886057313
|
|
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.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
|
|
|
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter)
|
rs150216540
|
|
NM_022081.6(HPS4):c.1713+1G>A
|
rs2146534178
|
|
NM_022081.6(HPS4):c.276+5G>A
|
rs1602079277
|
|
NM_022081.6(HPS4):c.803+1G>A
|
|
|
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
|
|
|
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.1711_1712insAG (p.Cys571Ter)
|
rs1220869113
|
|
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
|
|
|
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
|
|
|
NM_024747.6(HPS6):c.229_232del (p.Ser77fs)
|
rs2136333814
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_024747.6(HPS6):c.283del (p.Val95fs)
|
rs1564899012
|
|
NM_024747.6(HPS6):c.368del (p.Gly123fs)
|
|
|
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.733C>T (p.Arg245Ter)
|
rs2136334244
|
|
NM_032122.5(DTNBP1):c.*151_*152dup
|
rs555440397
|
|
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)
|
rs752074481
|
|
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_032383.4(HPS3):c.-108C>T
|
rs886058074
|
|
NM_032383.5(HPS3):c.*129_*130insGC
|
rs886058082
|
|
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.1128A>G (p.Ala376=)
|
rs1722738295
|
|
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)
|
rs1553750097
|
|
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)
|
rs753185316
|
|
NM_032383.5(HPS3):c.199C>T (p.Leu67=)
|
rs546531255
|
|
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs)
|
rs745457191
|
|
NM_032383.5(HPS3):c.2370C>G (p.Leu790=)
|
rs746304657
|
|
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg)
|
rs1724018415
|
|
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)
|
rs1576695913
|
|
NM_032383.5(HPS3):c.2479C>T (p.Leu827=)
|
rs773017257
|
|
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
|
|
|
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)
|
rs1576708708
|
|
NM_032383.5(HPS3):c.2887+18_2887+19dup
|
rs397710976
|
|
NM_032383.5(HPS3):c.2887+19dup
|
rs397710976
|
|
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.716T>G (p.Ile239Ser)
|
rs886058075
|
|
NM_032383.5(HPS3):c.851_852del (p.Arg284fs)
|
rs750685598
|
|
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_181507.2(HPS5):c.*1003_*1004del
|
rs886048070
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter)
|
rs779921624
|
|
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del)
|
rs886048077
|
|
NM_181507.2(HPS5):c.2837+15del
|
rs886048076
|
|
NM_181507.2(HPS5):c.2837+1G>A
|
|
|
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)
|
rs886041723
|
|
NM_181507.2(HPS5):c.478-2A>G
|
|
|
NM_201280.3(BLOC1S5):c.345del (p.Val116fs)
|
rs1763106978
|
|
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)
|
rs1599746194
|
|