NM_001128159.3(VPS53):c.219-294G>T
|
rs2740362
|
0.98976
|
NM_001128159.3(VPS53):c.2328+15A>G
|
rs2034088
|
0.63097
|
NM_001128159.3(VPS53):c.2015+160T>G
|
rs11653961
|
0.62237
|
NM_001128159.3(VPS53):c.2086-121C>A
|
rs11651340
|
0.61978
|
NC_000017.11:g.714860C>G
|
rs2955626
|
0.60299
|
NM_001128159.3(VPS53):c.1788-261G>T
|
rs9905044
|
0.55514
|
NM_001128159.3(VPS53):c.687+265A>C
|
rs2002015
|
0.53021
|
NM_001128159.3(VPS53):c.-90C>T
|
rs2474694
|
0.44823
|
NM_001128159.3(VPS53):c.1867-81C>T
|
rs7219151
|
0.40515
|
NM_001128159.3(VPS53):c.218+102C>G
|
rs2543781
|
0.38294
|
NM_001128159.3(VPS53):c.218+310C>A
|
rs2657629
|
0.38255
|
NM_001128159.3(VPS53):c.285+156G>A
|
rs2657633
|
0.38195
|
NM_001128159.3(VPS53):c.974+75A>G
|
rs16954064
|
0.36382
|
NM_001128159.3(VPS53):c.489-234T>C
|
rs379998
|
0.34368
|
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)
|
rs2075443
|
0.33961
|
NM_001128159.2(VPS53):c.-459G>T
|
rs2456274
|
0.26446
|
NM_001128159.3(VPS53):c.2085+186G>A
|
rs11650424
|
0.24193
|
NM_001128159.3(VPS53):c.219-11T>C
|
rs4968100
|
0.19527
|
NM_001128159.3(VPS53):c.1788-193G>C
|
rs12450578
|
0.18997
|
NM_001128159.3(VPS53):c.2328+170C>T
|
rs2034087
|
0.17962
|
NM_001128159.3(VPS53):c.88-161G>T
|
rs11657527
|
0.17661
|
NM_001128159.3(VPS53):c.81C>T (p.Ile27=)
|
rs11558129
|
0.16882
|
NM_001128159.3(VPS53):c.1867-71T>C
|
rs12951098
|
0.15268
|
NM_001128159.3(VPS53):c.168+272T>G
|
rs10521109
|
0.14931
|
NM_001128159.3(VPS53):c.2016-70C>G
|
rs2304947
|
0.14738
|
NM_001128159.3(VPS53):c.1313+214G>C
|
rs34345377
|
0.14487
|
NM_001128159.3(VPS53):c.982C>A (p.Leu328Ile)
|
rs16954056
|
0.11362
|
NM_001128159.3(VPS53):c.688-258A>G
|
rs12450330
|
0.09613
|
NM_001128159.3(VPS53):c.168+188G>A
|
rs62053812
|
0.08525
|
NM_001128159.3(VPS53):c.-44G>A
|
rs35915949
|
0.07113
|
NM_001128159.3(VPS53):c.219-230A>G
|
rs75533558
|
0.07016
|
NM_001128159.3(VPS53):c.608+46G>T
|
rs60631479
|
0.06519
|
NM_001128159.3(VPS53):c.1867-292C>T
|
rs35320312
|
0.06254
|
NM_001128159.3(VPS53):c.1116+296C>A
|
rs62056505
|
0.05803
|
NM_001128159.3(VPS53):c.1866+127G>T
|
rs16953529
|
0.04370
|
NM_001128159.3(VPS53):c.2016-45T>G
|
rs79639543
|
0.04297
|
NM_001128159.3(VPS53):c.88-154C>T
|
rs11653781
|
0.03965
|
NM_001128159.3(VPS53):c.1787+156A>G
|
rs149996743
|
0.03395
|
NM_001128159.3(VPS53):c.1116+27C>T
|
rs73975715
|
0.02583
|
NM_001128159.3(VPS53):c.286-259T>A
|
rs73975798
|
0.02564
|
NM_001128159.3(VPS53):c.832-29G>C
|
rs73975718
|
0.02473
|
NM_001128159.3(VPS53):c.488+218G>A
|
rs79885967
|
0.02295
|
NM_001128159.3(VPS53):c.2184C>T (p.Ile728=)
|
rs16953156
|
0.01948
|
NM_001128159.3(VPS53):c.1787+57G>A
|
rs142478715
|
0.01710
|
NM_001128159.3(VPS53):c.975-238A>G
|
rs145478325
|
0.01691
|
NM_001128159.3(VPS53):c.1788-42G>A
|
rs2304949
|
0.01577
|
NM_001128159.3(VPS53):c.1089C>T (p.Ser363=)
|
rs61099969
|
0.01457
|
NM_001128159.3(VPS53):c.2328+45dup
|
rs140756478
|
0.01415
|
NM_001128159.3(VPS53):c.489-122G>C
|
rs9900266
|
0.01231
|
NM_001128159.3(VPS53):c.975-62C>T
|
rs58265223
|
0.01208
|
NM_001128159.3(VPS53):c.1219-57C>A
|
rs73277147
|
0.01202
|
NM_001128159.3(VPS53):c.489-109T>C
|
rs73281349
|
0.01089
|
NM_001128159.3(VPS53):c.168+146G>A
|
rs60716882
|
0.01079
|
NM_001128159.3(VPS53):c.2130C>G (p.Leu710=)
|
rs59240016
|
0.00924
|
NM_001128159.3(VPS53):c.219-206G>A
|
rs147639969
|
0.00914
|
NM_001128159.3(VPS53):c.1314-324C>A
|
rs150018646
|
0.00871
|
NM_001128159.3(VPS53):c.1867-150A>T
|
rs143213511
|
0.00853
|
NM_001128159.3(VPS53):c.286-187dup
|
rs144528860
|
0.00826
|
NM_001128159.3(VPS53):c.609-37T>C
|
rs59649196
|
0.00800
|
NM_001128159.3(VPS53):c.219-181A>G
|
rs79363175
|
0.00685
|
NM_001128159.3(VPS53):c.169-258C>T
|
rs75104376
|
0.00680
|
NM_001128159.3(VPS53):c.218+159T>C
|
rs79167389
|
0.00678
|
NM_001128159.3(VPS53):c.488+90A>G
|
rs74965944
|
0.00605
|
NM_001128159.3(VPS53):c.219-216A>G
|
rs76783890
|
0.00555
|
NM_001128159.3(VPS53):c.2046C>T (p.Leu682=)
|
rs145601260
|
0.00489
|
NM_001128159.3(VPS53):c.831+70A>C
|
rs116722145
|
0.00456
|
NM_001128159.3(VPS53):c.1866+169G>A
|
rs143964294
|
0.00387
|
NM_001128159.3(VPS53):c.832-230C>G
|
rs147728854
|
0.00342
|
NM_001128159.3(VPS53):c.1787+82C>T
|
rs182361884
|
0.00330
|
NM_001128159.3(VPS53):c.688-235T>C
|
rs116493624
|
0.00312
|
NM_001128159.3(VPS53):c.687+119T>C
|
rs73975719
|
0.00287
|
NM_001128159.3(VPS53):c.1788-52T>A
|
rs576962422
|
0.00210
|
NM_001128159.3(VPS53):c.1866+12G>A
|
rs193257501
|
0.00157
|
NM_001128159.3(VPS53):c.1556+3G>A
|
rs77612078
|
0.00140
|
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val)
|
rs140376049
|
0.00139
|
NM_001128159.3(VPS53):c.688-3T>C
|
rs188572742
|
0.00110
|
NM_001128159.3(VPS53):c.189A>G (p.Glu63=)
|
rs115321348
|
0.00098
|
NM_001128159.3(VPS53):c.997C>T (p.Arg333Cys)
|
rs145041715
|
0.00016
|
NM_001128159.3(VPS53):c.2412C>T (p.Ser804=)
|
rs768263237
|
0.00014
|
NM_001128159.3(VPS53):c.1944C>T (p.Asn648=)
|
rs202035474
|
0.00008
|
NM_001128159.3(VPS53):c.950C>T (p.Ala317Val)
|
rs376544966
|
0.00006
|
NM_001128159.3(VPS53):c.664G>A (p.Ala222Thr)
|
rs144345391
|
0.00005
|
NM_001128159.3(VPS53):c.2253G>A (p.Val751=)
|
rs377274469
|
0.00004
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
0.00003
|
NM_001128159.3(VPS53):c.1416C>T (p.Ala472=)
|
rs148959558
|
0.00003
|
NM_001128159.3(VPS53):c.281G>A (p.Arg94Gln)
|
rs780440888
|
0.00003
|
NM_001128159.3(VPS53):c.2352C>T (p.Ser784=)
|
rs1023247952
|
0.00002
|
NM_001128159.3(VPS53):c.1299C>T (p.Ile433=)
|
rs138244894
|
0.00001
|
NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu)
|
rs548219603
|
0.00001
|
NM_001128159.3(VPS53):c.87G>A (p.Gln29=)
|
rs201431069
|
0.00001
|
NC_000017.11:g.714946G>T
|
rs16954764
|
|
NC_000017.11:g.715000del
|
rs66686804
|
|
NC_000017.11:g.715166del
|
rs150222582
|
|
NM_001128159.3(VPS53):c.1266C>T (p.Ser422=)
|
rs1057524168
|
|
NM_001128159.3(VPS53):c.1313+79T>G
|
rs2304951
|
|
NM_001128159.3(VPS53):c.1314-12_1314-9del
|
rs36070043
|
|
NM_001128159.3(VPS53):c.1314-134C>T
|
rs9915472
|
|
NM_001128159.3(VPS53):c.1314-19dup
|
rs36070043
|
|
NM_001128159.3(VPS53):c.169-133dup
|
rs200529095
|
|
NM_001128159.3(VPS53):c.169-134del
|
rs542350655
|
|
NM_001128159.3(VPS53):c.1705-113del
|
rs35437010
|
|
NM_001128159.3(VPS53):c.1787+44A>C
|
rs145953258
|
|
NM_001128159.3(VPS53):c.1866+229dup
|
rs34842319
|
|
NM_001128159.3(VPS53):c.2016-157A>G
|
rs2304948
|
|
NM_001128159.3(VPS53):c.2329-13C>T
|
rs1555546236
|
|
NM_001128159.3(VPS53):c.2397G>A (p.Ser799=)
|
rs377433960
|
|
NM_001128159.3(VPS53):c.267G>C (p.Val89=)
|
rs1443158408
|
|
NM_001128159.3(VPS53):c.286-130del
|
rs140113256
|
|
NM_001128159.3(VPS53):c.300_301dup (p.Gln101fs)
|
rs1447478732
|
|
NM_001128159.3(VPS53):c.372+176G>A
|
rs58184664
|
|
NM_001128159.3(VPS53):c.372+266del
|
rs142116936
|
|
NM_001128159.3(VPS53):c.372+272_372+273dup
|
rs10666256
|
|
NM_001128159.3(VPS53):c.372+272_372+274dup
|
rs10666256
|
|
NM_001128159.3(VPS53):c.372+272dup
|
rs10666256
|
|
NM_001128159.3(VPS53):c.372+288del
|
rs10666256
|
|
NM_001128159.3(VPS53):c.372+5G>A
|
|
|
NM_001128159.3(VPS53):c.488+12C>T
|
rs1057523458
|
|
NM_001128159.3(VPS53):c.488+287_488+288del
|
rs58913512
|
|
NM_001128159.3(VPS53):c.688-16A>G
|
rs369442933
|
|
NM_001128159.3(VPS53):c.688-87G>A
|
rs8075534
|
|
NM_001128159.3(VPS53):c.69G>T (p.Val23=)
|
rs753398021
|
|
NM_001128159.3(VPS53):c.740T>C (p.Ile247Thr)
|
rs1057518257
|
|
NM_001128159.3(VPS53):c.814T>C (p.Phe272Leu)
|
rs989869542
|
|
NM_001128159.3(VPS53):c.831+243A>T
|
rs16954071
|
|
NM_001128159.3(VPS53):c.831+290TG[11]
|
rs60407745
|
|
NM_001128159.3(VPS53):c.831+290TG[13]
|
rs60407745
|
|
NM_001128159.3(VPS53):c.832-234T>C
|
rs331013
|
|
NM_001128159.3(VPS53):c.907G>A (p.Gly303Ser)
|
|
|
NM_001128159.3(VPS53):c.975-255_975-252del
|
rs202087474
|
|
NM_001128159.3(VPS53):c.975-279TAAA[4]
|
rs139981445
|
|
NM_001128159.3(VPS53):c.975-326G>C
|
rs148420172
|
|