|
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)
|
rs6453373
|
0.91917
|
|
NM_003664.5(AP3B1):c.536+104C>T
|
rs7714159
|
0.33493
|
|
NM_003664.5(AP3B1):c.280-28T>C
|
rs4499809
|
0.33465
|
|
NM_003664.5(AP3B1):c.604-97C>T
|
rs9293731
|
0.30127
|
|
NM_003664.5(AP3B1):c.*107T>A
|
rs11552314
|
0.29901
|
|
NM_003664.5(AP3B1):c.204+81C>T
|
rs10065892
|
0.27154
|
|
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)
|
rs42360
|
0.23948
|
|
NM_003664.5(AP3B1):c.1837+109G>A
|
rs1422067
|
0.20232
|
|
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)
|
rs4532349
|
0.18606
|
|
NM_003664.5(AP3B1):c.1168-70T>C
|
rs6873309
|
0.10580
|
|
NM_003664.5(AP3B1):c.1838-78C>G
|
rs16875172
|
0.08166
|
|
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.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.2324T>A (p.Ile775Lys)
|
rs62001050
|
0.00745
|
|
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.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.375+11G>A
|
rs190638302
|
0.00114
|
|
NM_003664.5(AP3B1):c.3132-22G>A
|
rs201198522
|
0.00098
|
|
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.279+16A>G
|
rs199804239
|
0.00035
|
|
NM_003664.5(AP3B1):c.402C>T (p.Ser134=)
|
rs144761256
|
0.00018
|
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
|
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val)
|
rs150765181
|
0.00003
|
|
NM_003664.5(AP3B1):c.2700C>T (p.Val900=)
|
rs756834284
|
0.00002
|
|
NM_003664.5(AP3B1):c.1814C>A (p.Pro605Gln)
|
rs374289196
|
0.00001
|
|
NM_003664.5(AP3B1):c.2470+10G>C
|
rs556568288
|
0.00001
|
|
NC_000005.9:g.(77473261_77477330)_(77477487_77511878)dup
|
|
|
|
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn)
|
rs779511911
|
|
|
NM_003664.5(AP3B1):c.1650+12del
|
rs563512609
|
|
|
NM_003664.5(AP3B1):c.1875T>A (p.Thr625=)
|
rs1305099986
|
|
|
NM_003664.5(AP3B1):c.1928C>T (p.Ala643Val)
|
|
|
|
NM_003664.5(AP3B1):c.1933G>A (p.Asp645Asn)
|
rs797045241
|
|
|
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)
|
rs199702315
|
|
|
NM_003664.5(AP3B1):c.2673G>T (p.Gln891His)
|
rs770455413
|
|
|
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn)
|
rs201179527
|
|
|
NM_003664.5(AP3B1):c.280-6dup
|
rs5868908
|
|
|
NM_003664.5(AP3B1):c.2890T>G (p.Leu964Val)
|
rs750377910
|
|
|
NM_003664.5(AP3B1):c.2968_2969delinsTT (p.Glu990Leu)
|
rs2112065832
|
|
|
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)
|
rs111935323
|
|
|
NM_003664.5(AP3B1):c.3090del (p.Asn1031fs)
|
|
|
|
NM_003664.5(AP3B1):c.751T>C (p.Tyr251His)
|
|
|