NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)
|
rs6453373
|
0.91917
|
NM_003664.5(AP3B1):c.*107T>A
|
rs11552314
|
0.29901
|
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)
|
rs42360
|
0.23948
|
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)
|
rs4532349
|
0.18606
|
NM_003664.5(AP3B1):c.1969-10G>A
|
rs77009095
|
0.05363
|
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)
|
rs17192146
|
0.04676
|
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)
|
rs76433453
|
0.02452
|
NM_001271769.2(AP3B1):c.*588A>G
|
rs114954951
|
0.02413
|
NM_003664.5(AP3B1):c.1364-18A>G
|
rs112329411
|
0.01617
|
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_003664.5(AP3B1):c.1095+17C>T
|
rs58284777
|
0.01316
|
NM_003664.5(AP3B1):c.2810-4C>T
|
rs115340604
|
0.01015
|
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys)
|
rs62001050
|
0.00745
|
NM_003664.5(AP3B1):c.*379A>G
|
rs115124715
|
0.00669
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
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_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)
|
rs146624866
|
0.00508
|
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_003664.5(AP3B1):c.1838-19T>G
|
rs140840619
|
0.00367
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_003664.5(AP3B1):c.1040+9T>A
|
rs201876461
|
0.00237
|
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_003664.5(AP3B1):c.1857T>G (p.Leu619=)
|
rs115892142
|
0.00200
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_003664.5(AP3B1):c.*44G>A
|
rs182487478
|
0.00174
|
NM_003664.5(AP3B1):c.375+11G>A
|
rs190638302
|
0.00114
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_003664.5(AP3B1):c.3131+5G>T
|
rs191616060
|
0.00053
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)
|
rs145351589
|
0.00046
|
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
NM_003664.5(AP3B1):c.38G>C (p.Gly13Ala)
|
rs139760966
|
0.00039
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
NM_003664.5(AP3B1):c.1168-9C>T
|
rs367648410
|
0.00024
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His)
|
rs141832130
|
0.00023
|
NM_003664.5(AP3B1):c.402C>T (p.Ser134=)
|
rs144761256
|
0.00018
|
NM_003664.5(AP3B1):c.*482C>T
|
rs538570213
|
0.00017
|
NM_003664.5(AP3B1):c.1995A>G (p.Lys665=)
|
rs201097736
|
0.00017
|
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu)
|
rs201886263
|
0.00015
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
0.00014
|
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_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_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_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_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_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_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_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_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_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_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_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
|
NC_000005.10:g.(?_78020672)_(78089519_?)del
|
|
|
NC_000005.10:g.(?_78089373)_(78141339_?)del
|
|
|
NC_000005.9:g.(?_77471430)_(77477506_?)del
|
|
|
NC_000005.9:g.(?_77536666)_(77590423_?)dup
|
|
|
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
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NM_003664.5(AP3B1):c.2894+10A>G
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NM_003664.5(AP3B1):c.2894+1G>T
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NM_003664.5(AP3B1):c.2894+6T>C
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NM_003664.5(AP3B1):c.2895-12G>T
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NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
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NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys)
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rs1749672035
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NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly)
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rs886060770
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NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)
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NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser)
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rs1580247322
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NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile)
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rs745653147
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NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
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NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
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NM_003664.5(AP3B1):c.2993-12T>C
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NM_003664.5(AP3B1):c.2993-3C>T
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rs1746824105
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NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)
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NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)
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NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)
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rs111935323
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NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)
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NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala)
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rs781365567
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NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
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NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly)
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rs1746480237
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NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)
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rs1746480237
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NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His)
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rs764848036
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NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
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NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=)
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rs1561354415
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NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg)
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rs2112054033
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NM_003664.5(AP3B1):c.3131+18C>T
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NM_003664.5(AP3B1):c.3131+19G>C
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rs769957838
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NM_003664.5(AP3B1):c.3132-16C>T
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NM_003664.5(AP3B1):c.3132-5T>C
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rs2112028477
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NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=)
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rs748447113
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NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
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NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=)
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rs751258161
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NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)
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NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)
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NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=)
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rs1192574805
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NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
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rs1397315776
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NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)
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NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala)
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rs137901104
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NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
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NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
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NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
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NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
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NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro)
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rs2112607296
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NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn)
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rs1746477844
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NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
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NM_003664.5(AP3B1):c.376-11A>C
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NM_003664.5(AP3B1):c.376-13G>A
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rs1185982935
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NM_003664.5(AP3B1):c.387A>T (p.Gln129His)
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rs1229682546
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NM_003664.5(AP3B1):c.39A>G (p.Gly13=)
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rs1488407842
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NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr)
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rs1270734050
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NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup)
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rs759424724
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NM_003664.5(AP3B1):c.439A>G (p.Ile147Val)
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rs2112494710
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NM_003664.5(AP3B1):c.454A>C (p.Met152Leu)
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rs2112494693
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NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
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NM_003664.5(AP3B1):c.513C>G (p.Ala171=)
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rs2112494604
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NM_003664.5(AP3B1):c.529T>C (p.Leu177=)
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NM_003664.5(AP3B1):c.536+8C>A
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NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
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NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
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NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
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NM_003664.5(AP3B1):c.570A>G (p.Glu190=)
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rs2112491939
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NM_003664.5(AP3B1):c.603+16T>G
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rs2112491852
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NM_003664.5(AP3B1):c.604-17A>G
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NM_003664.5(AP3B1):c.63T>C (p.Gly21=)
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rs776252237
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NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu)
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rs762212366
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NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu)
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rs1302695682
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NM_003664.5(AP3B1):c.681C>G (p.Arg227=)
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NM_003664.5(AP3B1):c.702G>T (p.Val234=)
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rs1745952689
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NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
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rs779084730
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NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter)
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rs869312837
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NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu)
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rs869312837
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NM_003664.5(AP3B1):c.720G>A (p.Gly240=)
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rs886060775
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NM_003664.5(AP3B1):c.723G>A (p.Gln241=)
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NM_003664.5(AP3B1):c.724dup (p.Val242fs)
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NM_003664.5(AP3B1):c.725T>C (p.Val242Ala)
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rs1580498432
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NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
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NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr)
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rs753890496
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NM_003664.5(AP3B1):c.738C>T (p.His246=)
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rs912124016
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NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile)
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rs2112607227
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NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
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NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
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NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
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NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
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NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
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NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu)
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rs1260956613
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NM_003664.5(AP3B1):c.778del (p.Trp260fs)
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NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter)
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rs1745947620
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NM_003664.5(AP3B1):c.786+15G>A
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NM_003664.5(AP3B1):c.786+1G>A
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NM_003664.5(AP3B1):c.786+6T>A
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rs1332793203
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NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser)
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rs1044368703
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NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp)
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rs1744376789
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NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly)
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rs147761913
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NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn)
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rs751922416
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NM_003664.5(AP3B1):c.836A>T (p.Asp279Val)
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rs1744372518
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NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu)
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rs1437339620
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NM_003664.5(AP3B1):c.84T>A (p.Ile28=)
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NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
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NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
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NM_003664.5(AP3B1):c.890A>T (p.His297Leu)
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rs1744369394
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NM_003664.5(AP3B1):c.894A>G (p.Arg298=)
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rs1580453466
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NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
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NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter)
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rs121908905
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NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys)
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rs1744368521
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NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr)
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rs2112414100
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NM_003664.5(AP3B1):c.915G>A (p.Lys305=)
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rs751927249
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NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser)
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rs1456578906
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NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
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NM_003664.5(AP3B1):c.942+17A>T
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NM_003664.5(AP3B1):c.942+1G>T
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NM_003664.5(AP3B1):c.942+8A>G
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NM_003664.5(AP3B1):c.943-9A>G
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rs776758618
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NM_003664.5(AP3B1):c.944T>C (p.Val315Ala)
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rs1744194194
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NM_003664.5(AP3B1):c.946G>A (p.Val316Ile)
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rs1744194052
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NM_003664.5(AP3B1):c.957T>G (p.Val319=)
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rs2112405584
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NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
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NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
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NM_003664.5(AP3B1):c.975C>T (p.His325=)
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rs2112405548
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NM_003664.5(AP3B1):c.976A>G (p.Ile326Val)
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rs758789954
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NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu)
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rs2112405535
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NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser)
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rs2112405528
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