NM_022081.6(HPS4):c.-530A>G
|
rs3747137
|
0.11724
|
NM_212550.4(BLOC1S3):c.*1905T>C
|
rs78979751
|
0.06757
|
NM_003664.5(AP3B1):c.1969-10G>A
|
rs77009095
|
0.05363
|
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)
|
rs17192146
|
0.04676
|
NM_022081.6(HPS4):c.558G>A (p.Ser186=)
|
rs13054747
|
0.03591
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)
|
rs76433453
|
0.02452
|
NM_001271769.2(AP3B1):c.*588A>G
|
rs114954951
|
0.02413
|
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_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_000096.4(CP):c.*879A>C
|
rs144029944
|
0.00863
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_032383.5(HPS3):c.*170C>T
|
rs182666670
|
0.00795
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)
|
rs34388030
|
0.00590
|
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)
|
rs61755718
|
0.00512
|
NM_022081.6(HPS4):c.*1850G>A
|
rs143168600
|
0.00456
|
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_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_001261826.3(AP3D1):c.463-4G>A
|
rs192634153
|
0.00324
|
NM_181507.2(HPS5):c.345G>A (p.Met115Ile)
|
rs149229493
|
0.00309
|
NM_000195.5(HPS1):c.*736C>T
|
rs149708847
|
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_022081.6(HPS4):c.1883G>A (p.Arg628His)
|
rs78892693
|
0.00257
|
NM_022081.6(HPS4):c.*1589C>A
|
rs117397456
|
0.00238
|
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.1779G>A (p.Pro593=)
|
rs77529785
|
0.00228
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)
|
rs115892142
|
0.00200
|
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_024747.6(HPS6):c.632G>C (p.Gly211Ala)
|
rs200584437
|
0.00183
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
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.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_022081.6(HPS4):c.*1253G>A
|
rs534586940
|
0.00121
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
NM_022081.6(HPS4):c.-585T>G
|
rs187762406
|
0.00105
|
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_181507.2(HPS5):c.*70C>T
|
rs371535842
|
0.00087
|
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)
|
rs201808262
|
0.00076
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00054
|
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_022081.5(HPS4):c.-661G>T
|
rs753668169
|
0.00045
|
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly)
|
rs141366997
|
0.00043
|
NM_022081.6(HPS4):c.*751G>A
|
rs190837977
|
0.00039
|
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg)
|
rs199663930
|
0.00036
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
NM_032383.5(HPS3):c.2364A>G (p.Ala788=)
|
rs149563235
|
0.00034
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
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_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_181507.2(HPS5):c.1900G>A (p.Glu634Lys)
|
rs143204089
|
0.00019
|
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_032383.5(HPS3):c.1769G>A (p.Arg590His)
|
rs145158238
|
0.00017
|
NM_032122.5(DTNBP1):c.512-16T>C
|
rs112527545
|
0.00016
|
NM_000195.5(HPS1):c.1286G>A (p.Arg429His)
|
rs201728087
|
0.00015
|
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_000195.5(HPS1):c.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
NM_003664.5(AP3B1):c.1650+18dup
|
rs766343354
|
0.00011
|
NM_003664.5(AP3B1):c.1650+20C>G
|
rs374194943
|
0.00011
|
NM_000195.5(HPS1):c.507+15C>T
|
rs374761960
|
0.00010
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)
|
rs370137287
|
0.00010
|
NM_000195.5(HPS1):c.179C>T (p.Thr60Met)
|
rs200004304
|
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_003664.5(AP3B1):c.2424T>C (p.Asp808=)
|
rs144240072
|
0.00008
|
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_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
NM_003664.5(AP3B1):c.2709A>G (p.Gln903=)
|
rs774631707
|
0.00007
|
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
|
rs200704721
|
0.00007
|
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.2578-12C>T
|
rs532846547
|
0.00006
|
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
|
rs373272114
|
0.00006
|
NM_032122.5(DTNBP1):c.355+10A>G
|
rs368923800
|
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_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.909A>G (p.Pro303=)
|
rs139169204
|
0.00005
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
NM_003664.5(AP3B1):c.603+20G>A
|
rs377222228
|
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.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_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.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_012388.4(BLOC1S6):c.72G>A (p.Glu24=)
|
rs768535324
|
0.00004
|
NM_032383.5(HPS3):c.957C>G (p.Pro319=)
|
rs751233801
|
0.00004
|
NM_000195.5(HPS1):c.1533-6C>T
|
rs751468611
|
0.00003
|
NM_003664.5(AP3B1):c.1095+20G>A
|
rs1003488988
|
0.00003
|
NM_003664.5(AP3B1):c.1473+11A>G
|
rs373481590
|
0.00003
|
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=)
|
rs551799202
|
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_032383.5(HPS3):c.2634G>A (p.Pro878=)
|
rs147593958
|
0.00003
|
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_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.1651-5A>G
|
rs1356238571
|
0.00002
|
NM_003664.5(AP3B1):c.1722A>C (p.Thr574=)
|
rs754956851
|
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.943-9A>T
|
rs776758618
|
0.00002
|
NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=)
|
rs761132701
|
0.00002
|
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)
|
rs543058717
|
0.00002
|
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.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.2037G>A (p.Leu679=)
|
rs773611107
|
0.00001
|
NM_000195.5(HPS1):c.399-5C>T
|
rs765780669
|
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.867+11T>C
|
rs745977366
|
0.00001
|
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=)
|
rs767889885
|
0.00001
|
NM_003664.5(AP3B1):c.1020G>A (p.Val340=)
|
rs145787996
|
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.1095+19C>T
|
rs377078977
|
0.00001
|
NM_003664.5(AP3B1):c.1140T>G (p.Thr380=)
|
rs752592265
|
0.00001
|
NM_003664.5(AP3B1):c.1161A>T (p.Thr387=)
|
rs746601394
|
0.00001
|
NM_003664.5(AP3B1):c.1236T>C (p.Tyr412=)
|
rs1468639815
|
0.00001
|
NM_003664.5(AP3B1):c.1275T>C (p.Ile425=)
|
rs1174063218
|
0.00001
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val)
|
rs191850940
|
0.00001
|
NM_003664.5(AP3B1):c.1467T>C (p.Ser489=)
|
rs772984182
|
0.00001
|
NM_003664.5(AP3B1):c.1650+14G>A
|
rs753974452
|
0.00001
|
NM_003664.5(AP3B1):c.1837+10G>A
|
rs1028071929
|
0.00001
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
NM_003664.5(AP3B1):c.1932C>T (p.Pro644=)
|
rs368771979
|
0.00001
|
NM_003664.5(AP3B1):c.1968+9A>G
|
rs750895201
|
0.00001
|
NM_003664.5(AP3B1):c.205-10T>A
|
rs1340696750
|
0.00001
|
NM_003664.5(AP3B1):c.2250-13C>T
|
rs774882416
|
0.00001
|
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=)
|
rs747086403
|
0.00001
|
NM_003664.5(AP3B1):c.2622T>G (p.Leu874=)
|
rs1471301912
|
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.2853T>C (p.Ile951=)
|
rs1263221940
|
0.00001
|
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=)
|
rs750377910
|
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.2992+20T>C
|
rs755171790
|
0.00001
|
NM_003664.5(AP3B1):c.306G>C (p.Leu102=)
|
rs746322233
|
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.855C>T (p.Asp285=)
|
rs79932334
|
0.00001
|
NM_003664.5(AP3B1):c.870G>A (p.Pro290=)
|
rs566729844
|
0.00001
|
NM_003664.5(AP3B1):c.954A>C (p.Ala318=)
|
rs1744193916
|
0.00001
|
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=)
|
rs372182517
|
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.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.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_024747.6(HPS6):c.105T>C (p.Arg35=)
|
rs573488604
|
0.00001
|
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)
|
rs367543105
|
0.00001
|
NM_032383.5(HPS3):c.2181C>T (p.Thr727=)
|
rs573058813
|
0.00001
|
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)
|
rs1170514296
|
0.00001
|
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
|
rs547880287
|
0.00001
|
NM_000195.5(HPS1):c.1239G>A (p.Pro413=)
|
rs777125097
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
NM_000195.5(HPS1):c.1533-17C>T
|
rs187227619
|
|
NM_000195.5(HPS1):c.198G>C (p.Ser66=)
|
rs115265574
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg)
|
rs11592273
|
|
NM_003664.5(AP3B1):c.1040+17T>G
|
|
|
NM_003664.5(AP3B1):c.1041-15T>A
|
rs2112402058
|
|
NM_003664.5(AP3B1):c.1047G>A (p.Val349=)
|
|
|
NM_003664.5(AP3B1):c.105C>T (p.Gly35=)
|
|
|
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.1125C>T (p.Phe375=)
|
|
|
NM_003664.5(AP3B1):c.1143T>C (p.Asp381=)
|
|
|
NM_003664.5(AP3B1):c.1167+11T>C
|
rs2112401362
|
|
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.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.1231-9A>G
|
|
|
NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)
|
|
|
NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)
|
|
|
NM_003664.5(AP3B1):c.128+20T>C
|
|
|
NM_003664.5(AP3B1):c.128+8G>A
|
|
|
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.129-19T>C
|
|
|
NM_003664.5(AP3B1):c.129-9_129-8del
|
rs2112562563
|
|
NM_003664.5(AP3B1):c.1323G>A (p.Thr441=)
|
|
|
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.1364-15T>G
|
|
|
NM_003664.5(AP3B1):c.1364-4del
|
rs1188997693
|
|
NM_003664.5(AP3B1):c.1473+15A>C
|
|
|
NM_003664.5(AP3B1):c.1474-18A>T
|
|
|
NM_003664.5(AP3B1):c.1491A>G (p.Ala497=)
|
rs2112327078
|
|
NM_003664.5(AP3B1):c.15T>C (p.Ser5=)
|
|
|
NM_003664.5(AP3B1):c.1605G>A (p.Gln535=)
|
rs200769344
|
|
NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)
|
|
|
NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)
|
|
|
NM_003664.5(AP3B1):c.1651-11T>C
|
|
|
NM_003664.5(AP3B1):c.1651-14dup
|
rs1333771177
|
|
NM_003664.5(AP3B1):c.1651-9T>C
|
rs2112301377
|
|
NM_003664.5(AP3B1):c.1675T>C (p.Leu559=)
|
|
|
NM_003664.5(AP3B1):c.1707C>T (p.Asp569=)
|
|
|
NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)
|
|
|
NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)
|
|
|
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser)
|
rs149263390
|
|
NM_003664.5(AP3B1):c.1812A>G (p.Ala604=)
|
|
|
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
|
|
|
NM_003664.5(AP3B1):c.1838-13C>G
|
|
|
NM_003664.5(AP3B1):c.1838-16T>C
|
|
|
NM_003664.5(AP3B1):c.1878C>T (p.Leu626=)
|
|
|
NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)
|
|
|
NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)
|
|
|
NM_003664.5(AP3B1):c.1932C>A (p.Pro644=)
|
|
|
NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)
|
|
|
NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)
|
|
|
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.2001G>A (p.Lys667=)
|
|
|
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.2077+18T>C
|
|
|
NM_003664.5(AP3B1):c.2078-11C>T
|
|
|
NM_003664.5(AP3B1):c.2088T>C (p.Ser696=)
|
rs200618231
|
|
NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)
|
|
|
NM_003664.5(AP3B1):c.213A>G (p.Ala71=)
|
|
|
NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)
|
|
|
NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)
|
|
|
NM_003664.5(AP3B1):c.2190G>A (p.Arg730=)
|
rs2112260185
|
|
NM_003664.5(AP3B1):c.2202A>C (p.Leu734=)
|
|
|
NM_003664.5(AP3B1):c.2220C>T (p.Ala740=)
|
|
|
NM_003664.5(AP3B1):c.2250-6G>A
|
|
|
NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)
|
|
|
NM_003664.5(AP3B1):c.2382C>T (p.Ser794=)
|
rs920648897
|
|
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.2409_2411del (p.Lys804del)
|
rs199702315
|
|
NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)
|
|
|
NM_003664.5(AP3B1):c.2433T>C (p.Pro811=)
|
rs2112233233
|
|
NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)
|
|
|
NM_003664.5(AP3B1):c.2470+9dup
|
|
|
NM_003664.5(AP3B1):c.2471-16G>C
|
|
|
NM_003664.5(AP3B1):c.2471-20A>G
|
|
|
NM_003664.5(AP3B1):c.2478A>G (p.Pro826=)
|
|
|
NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)
|
|
|
NM_003664.5(AP3B1):c.2568A>G (p.Ser856=)
|
|
|
NM_003664.5(AP3B1):c.2577+9T>C
|
|
|
NM_003664.5(AP3B1):c.2578-7G>A
|
|
|
NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)
|
|
|
NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)
|
|
|
NM_003664.5(AP3B1):c.2673G>A (p.Gln891=)
|
rs770455413
|
|
NM_003664.5(AP3B1):c.2715A>G (p.Thr905=)
|
|
|
NM_003664.5(AP3B1):c.2730T>G (p.Thr910=)
|
|
|
NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)
|
|
|
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.279+18A>G
|
|
|
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.280-5A>T
|
|
|
NM_003664.5(AP3B1):c.280-6T>A
|
|
|
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.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.2894+10A>G
|
|
|
NM_003664.5(AP3B1):c.2895-12G>T
|
|
|
NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)
|
|
|
NM_003664.5(AP3B1):c.2993-12T>C
|
|
|
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.3123T>C (p.Asn1041=)
|
rs1561354415
|
|
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.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.3264G>A (p.Lys1088=)
|
|
|
NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
|
|
|
NM_003664.5(AP3B1):c.376-11A>C
|
|
|
NM_003664.5(AP3B1):c.376-13G>A
|
rs1185982935
|
|
NM_003664.5(AP3B1):c.39A>G (p.Gly13=)
|
rs1488407842
|
|
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.604-17A>G
|
|
|
NM_003664.5(AP3B1):c.63T>C (p.Gly21=)
|
rs776252237
|
|
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.723G>A (p.Gln241=)
|
|
|
NM_003664.5(AP3B1):c.738C>T (p.His246=)
|
rs912124016
|
|
NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
|
|
|
NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
|
|
|
NM_003664.5(AP3B1):c.786+15G>A
|
|
|
NM_003664.5(AP3B1):c.84T>A (p.Ile28=)
|
|
|
NM_003664.5(AP3B1):c.894A>G (p.Arg298=)
|
rs1580453466
|
|
NM_003664.5(AP3B1):c.915G>A (p.Lys305=)
|
rs751927249
|
|
NM_003664.5(AP3B1):c.942+17A>T
|
|
|
NM_003664.5(AP3B1):c.942+8A>G
|
|
|
NM_003664.5(AP3B1):c.943-9A>G
|
rs776758618
|
|
NM_003664.5(AP3B1):c.957T>G (p.Val319=)
|
rs2112405584
|
|
NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
|
|
|
NM_003664.5(AP3B1):c.975C>T (p.His325=)
|
rs2112405548
|
|
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.171T>C (p.Leu57=)
|
|
|
NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=)
|
rs2140904620
|
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NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=)
|
rs1329457663
|
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NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)
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|
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NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)
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NM_012388.4(BLOC1S6):c.21G>A (p.Ser7=)
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NM_012388.4(BLOC1S6):c.224+10T>C
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NM_012388.4(BLOC1S6):c.224+15A>C
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NM_012388.4(BLOC1S6):c.224+17C>T
|
|
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NM_012388.4(BLOC1S6):c.224+18C>A
|
rs2140904710
|
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NM_012388.4(BLOC1S6):c.224+18C>G
|
|
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NM_012388.4(BLOC1S6):c.225-13G>A
|
rs1010778337
|
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NM_012388.4(BLOC1S6):c.225-16T>C
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NM_012388.4(BLOC1S6):c.225-17G>A
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NM_012388.4(BLOC1S6):c.225-19C>T
|
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NM_012388.4(BLOC1S6):c.225-4dup
|
|
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NM_012388.4(BLOC1S6):c.240A>G (p.Val80=)
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NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)
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NM_012388.4(BLOC1S6):c.253C>T (p.Leu85=)
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NM_012388.4(BLOC1S6):c.255G>A (p.Leu85=)
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NM_012388.4(BLOC1S6):c.309T>C (p.Ala103=)
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|
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NM_012388.4(BLOC1S6):c.312+17T>A
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NM_012388.4(BLOC1S6):c.312+7A>G
|
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NM_012388.4(BLOC1S6):c.313-7T>C
|
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NM_012388.4(BLOC1S6):c.327A>G (p.Lys109=)
|
rs2140918976
|
|
NM_012388.4(BLOC1S6):c.343T>C (p.Leu115=)
|
rs2140919014
|
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NM_012388.4(BLOC1S6):c.367C>T (p.Leu123=)
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|
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NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=)
|
rs1426071548
|
|
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
|
|
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NM_012388.4(BLOC1S6):c.399+13T>A
|
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NM_012388.4(BLOC1S6):c.399+14T>G
|
rs2140919137
|
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NM_012388.4(BLOC1S6):c.399+18dup
|
|
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NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)
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NM_012388.4(BLOC1S6):c.400-13T>C
|
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NM_012388.4(BLOC1S6):c.400-16T>A
|
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NM_012388.4(BLOC1S6):c.400-17T>A
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NM_012388.4(BLOC1S6):c.400-5C>T
|
|
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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.408A>G (p.Ala136=)
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|
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NM_012388.4(BLOC1S6):c.408A>T (p.Ala136=)
|
rs765691244
|
|
NM_012388.4(BLOC1S6):c.417G>A (p.Leu139=)
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|
|
NM_012388.4(BLOC1S6):c.43C>A (p.Arg15=)
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NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)
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|
|
NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)
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|
|
NM_012388.4(BLOC1S6):c.507C>T (p.Ala169=)
|
|
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NM_012388.4(BLOC1S6):c.51C>T (p.Pro17=)
|
|
|
NM_012388.4(BLOC1S6):c.63G>A (p.Glu21=)
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|
|
NM_012388.4(BLOC1S6):c.66C>T (p.Ala22=)
|
|
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NM_012388.4(BLOC1S6):c.69G>C (p.Gly23=)
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|
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NM_012388.4(BLOC1S6):c.82+11T>C
|
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NM_012388.4(BLOC1S6):c.82+14G>T
|
|
|
NM_012388.4(BLOC1S6):c.82+9_82+12del
|
|
|
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=)
|
rs386820399
|
|
NM_032383.5(HPS3):c.2479C>T (p.Leu827=)
|
rs773017257
|
|
NM_032383.5(HPS3):c.884+25del
|
rs10693502
|
|