NM_033305.3(VPS13A):c.2512+116A>G
|
rs2050831
|
0.84346
|
NM_033305.3(VPS13A):c.8105+81G>A
|
rs7043232
|
0.65470
|
NM_033305.3(VPS13A):c.9400-34A>T
|
rs2025846
|
0.53041
|
NM_033305.3(VPS13A):c.3961-22A>G
|
rs2275549
|
0.52711
|
NM_033305.3(VPS13A):c.*1024C>T
|
rs9186
|
0.52644
|
NM_033305.3(VPS13A):c.101-62A>G
|
rs12552898
|
0.51020
|
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)
|
rs3737289
|
0.40290
|
NM_033305.3(VPS13A):c.9078-133A>G
|
rs10869920
|
0.39381
|
NM_033305.3(VPS13A):c.*1378C>A
|
rs13286867
|
0.30192
|
NM_033305.3(VPS13A):c.1901-215G>A
|
rs2022444
|
0.20477
|
NM_033305.3(VPS13A):c.2170+42G>A
|
rs2021998
|
0.20458
|
NM_033305.3(VPS13A):c.*222G>A
|
rs12343797
|
0.19772
|
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)
|
rs7025532
|
0.18911
|
NM_033305.3(VPS13A):c.6378+15A>T
|
rs12348097
|
0.14593
|
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)
|
rs11145366
|
0.10477
|
NM_033305.3(VPS13A):c.6379-27G>T
|
rs56156608
|
0.10471
|
NM_033305.3(VPS13A):c.2288+20T>C
|
rs12335955
|
0.10447
|
NM_033305.3(VPS13A):c.*565G>A
|
rs989391
|
0.08398
|
NM_033305.3(VPS13A):c.2825-63T>G
|
rs17423029
|
0.07996
|
NM_033305.3(VPS13A):c.7026+62A>G
|
rs17424248
|
0.07843
|
NM_033305.3(VPS13A):c.615+20G>C
|
rs17723908
|
0.07780
|
NM_033305.3(VPS13A):c.2428-50G>A
|
rs17063468
|
0.07779
|
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=)
|
rs17424026
|
0.07721
|
NM_033305.3(VPS13A):c.6379-7A>T
|
rs759586753
|
0.07351
|
NM_033305.3(VPS13A):c.7027-54A>G
|
rs72746022
|
0.06290
|
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=)
|
rs17340192
|
0.05788
|
NM_033305.3(VPS13A):c.8553+31G>C
|
rs72746094
|
0.05781
|
NM_033305.3(VPS13A):c.8667+106A>G
|
rs17340234
|
0.05621
|
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=)
|
rs17423984
|
0.05526
|
NM_033305.3(VPS13A):c.3508-51A>G
|
rs1317305
|
0.05518
|
NM_033305.3(VPS13A):c.3813-171C>G
|
rs17423381
|
0.05518
|
NM_033305.3(VPS13A):c.1596-31C>T
|
rs72742601
|
0.05251
|
NM_033305.3(VPS13A):c.883-16A>C
|
rs72742584
|
0.05222
|
NM_033305.3(VPS13A):c.*942C>T
|
rs1048743
|
0.02380
|
NM_033305.3(VPS13A):c.2964+13A>G
|
rs115996561
|
0.02367
|
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=)
|
rs78046172
|
0.02340
|
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=)
|
rs76751358
|
0.02305
|
NM_033305.3(VPS13A):c.2718A>G (p.Val906=)
|
rs79287753
|
0.02299
|
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys)
|
rs76077278
|
0.02297
|
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=)
|
rs79914457
|
0.02054
|
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala)
|
rs78048112
|
0.01850
|
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=)
|
rs34255276
|
0.01788
|
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=)
|
rs17081163
|
0.01458
|
NM_033305.3(VPS13A):c.*1186A>G
|
rs3177
|
0.01392
|
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=)
|
rs73466058
|
0.01375
|
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn)
|
rs73467962
|
0.01369
|
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=)
|
rs73654012
|
0.01345
|
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=)
|
rs73449933
|
0.01319
|
NM_033305.3(VPS13A):c.7806+6A>G
|
rs74810255
|
0.01231
|
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)
|
rs41289969
|
0.00944
|
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=)
|
rs115565179
|
0.00932
|
NM_033305.3(VPS13A):c.6880-19G>C
|
rs183040221
|
0.00852
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00817
|
NM_033305.3(VPS13A):c.228T>C (p.Thr76=)
|
rs115443572
|
0.00762
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_033305.3(VPS13A):c.8472-12C>T
|
rs115077471
|
0.00651
|
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=)
|
rs146280301
|
0.00643
|
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=)
|
rs139753431
|
0.00641
|
NM_033305.3(VPS13A):c.3813-15T>C
|
rs145835861
|
0.00639
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=)
|
rs114699935
|
0.00559
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_033305.3(VPS13A):c.*1458T>G
|
rs139050715
|
0.00474
|
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)
|
rs148656796
|
0.00425
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=)
|
rs73467954
|
0.00400
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_033305.3(VPS13A):c.2667+12G>A
|
rs199995355
|
0.00342
|
NM_033305.3(VPS13A):c.101-7T>C
|
rs190684534
|
0.00338
|
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=)
|
rs73466090
|
0.00324
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)
|
rs142058362
|
0.00198
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
NM_033305.3(VPS13A):c.9078-7C>T
|
rs186819389
|
0.00183
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)
|
rs141835897
|
0.00171
|
NM_033305.3(VPS13A):c.4630+17A>G
|
rs371320559
|
0.00153
|
NM_033305.3(VPS13A):c.-148C>T
|
rs555695029
|
0.00150
|
NM_033305.3(VPS13A):c.2170+13T>C
|
rs183087425
|
0.00143
|
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn)
|
rs74622901
|
0.00134
|
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=)
|
rs139115188
|
0.00115
|
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=)
|
rs74983687
|
0.00113
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_033305.3(VPS13A):c.101-14T>G
|
rs202024224
|
0.00098
|
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=)
|
rs143021112
|
0.00096
|
NM_033305.3(VPS13A):c.*279A>T
|
rs191865643
|
0.00095
|
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=)
|
rs145346590
|
0.00093
|
NM_033305.3(VPS13A):c.*933A>G
|
rs561135773
|
0.00085
|
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=)
|
rs73467955
|
0.00070
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)
|
rs146574121
|
0.00057
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
NM_033305.3(VPS13A):c.*185A>G
|
rs773434698
|
0.00043
|
NM_033305.3(VPS13A):c.8668-10G>C
|
rs371453974
|
0.00039
|
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=)
|
rs141940484
|
0.00036
|
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys)
|
rs144290291
|
0.00035
|
NM_033305.3(VPS13A):c.3508-8T>C
|
rs376751858
|
0.00031
|
NM_033305.3(VPS13A):c.8907+10T>G
|
rs373895244
|
0.00031
|
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val)
|
rs142981309
|
0.00030
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)
|
rs148891181
|
0.00026
|
NM_033305.3(VPS13A):c.516G>A (p.Pro172=)
|
rs141109675
|
0.00026
|
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn)
|
rs188070090
|
0.00026
|
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg)
|
rs145686832
|
0.00026
|
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=)
|
rs144477984
|
0.00024
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
NM_033305.3(VPS13A):c.621C>T (p.Ile207=)
|
rs146941948
|
0.00021
|
NM_033305.3(VPS13A):c.1453-15C>T
|
rs200334710
|
0.00020
|
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=)
|
rs112596608
|
0.00018
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=)
|
rs117654083
|
0.00016
|
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)
|
rs200107412
|
0.00016
|
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile)
|
rs189718498
|
0.00014
|
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His)
|
rs141321409
|
0.00014
|
NM_033305.3(VPS13A):c.971A>G (p.His324Arg)
|
rs138568018
|
0.00014
|
NM_033305.3(VPS13A):c.*1194A>C
|
rs556413345
|
0.00013
|
NM_033305.3(VPS13A):c.126A>G (p.Gln42=)
|
rs140518771
|
0.00013
|
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=)
|
rs148754839
|
0.00013
|
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val)
|
rs145398548
|
0.00013
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
NM_033305.3(VPS13A):c.787G>A (p.Val263Met)
|
rs372957084
|
0.00013
|
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe)
|
rs147115148
|
0.00011
|
NM_033305.3(VPS13A):c.1785+7A>G
|
rs367906505
|
0.00011
|
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser)
|
rs139073067
|
0.00011
|
NM_033305.3(VPS13A):c.699C>T (p.Asp233=)
|
rs138009035
|
0.00011
|
NM_033305.3(VPS13A):c.846G>A (p.Glu282=)
|
rs376954549
|
0.00011
|
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val)
|
rs185663133
|
0.00011
|
NM_033305.3(VPS13A):c.*474G>A
|
rs531360785
|
0.00010
|
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=)
|
rs776098236
|
0.00010
|
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=)
|
rs372019796
|
0.00010
|
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met)
|
rs151129933
|
0.00010
|
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys)
|
rs146265794
|
0.00009
|
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=)
|
rs372027471
|
0.00009
|
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser)
|
rs182495915
|
0.00009
|
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=)
|
rs145624888
|
0.00008
|
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val)
|
rs143067406
|
0.00008
|
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs)
|
rs779746050
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)
|
rs200755494
|
0.00008
|
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro)
|
rs148227344
|
0.00007
|
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=)
|
rs189138644
|
0.00007
|
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser)
|
rs371055567
|
0.00007
|
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=)
|
rs151069489
|
0.00006
|
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val)
|
rs750174637
|
0.00006
|
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu)
|
rs755454094
|
0.00006
|
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val)
|
rs758912053
|
0.00006
|
NM_033305.3(VPS13A):c.8212-15G>A
|
rs771085531
|
0.00006
|
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=)
|
rs201517936
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr)
|
rs370950513
|
0.00005
|
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=)
|
rs748268509
|
0.00005
|
NM_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly)
|
rs377418680
|
0.00005
|
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=)
|
rs191925614
|
0.00005
|
NM_033305.3(VPS13A):c.723T>C (p.Asn241=)
|
rs749945516
|
0.00005
|
NM_033305.3(VPS13A):c.755-7T>C
|
rs377234046
|
0.00005
|
NM_033305.3(VPS13A):c.8953+7A>G
|
rs375621860
|
0.00005
|
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=)
|
rs149474259
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_033305.3(VPS13A):c.*665C>G
|
rs41289985
|
0.00004
|
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=)
|
rs367698917
|
0.00004
|
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser)
|
rs189129300
|
0.00004
|
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val)
|
rs369818421
|
0.00004
|
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter)
|
rs200280742
|
0.00004
|
NM_033305.3(VPS13A):c.3961-2A>C
|
rs1244139989
|
0.00004
|
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=)
|
rs763602189
|
0.00004
|
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=)
|
rs1042736663
|
0.00004
|
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=)
|
rs571822890
|
0.00004
|
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys)
|
rs141164942
|
0.00004
|
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr)
|
rs200616248
|
0.00004
|
NM_033305.3(VPS13A):c.6840T>C (p.His2280=)
|
rs750072063
|
0.00004
|
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=)
|
rs779653365
|
0.00004
|
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu)
|
rs200293888
|
0.00004
|
NM_033305.3(VPS13A):c.981C>T (p.Ala327=)
|
rs368425803
|
0.00004
|
NM_033305.3(VPS13A):c.*182G>A
|
rs983693743
|
0.00003
|
NM_033305.3(VPS13A):c.-150C>T
|
rs560445300
|
0.00003
|
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=)
|
rs760025315
|
0.00003
|
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala)
|
rs564878665
|
0.00003
|
NM_033305.3(VPS13A):c.2667+4G>A
|
rs748465954
|
0.00003
|
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr)
|
rs1437731472
|
0.00003
|
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=)
|
rs143022525
|
0.00003
|
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro)
|
rs757415947
|
0.00003
|
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu)
|
rs772689261
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln)
|
rs201208791
|
0.00003
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys)
|
rs772152953
|
0.00003
|
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=)
|
rs554457655
|
0.00003
|
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys)
|
rs574650880
|
0.00003
|
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg)
|
rs202148808
|
0.00003
|
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=)
|
rs368161466
|
0.00003
|
NM_033305.3(VPS13A):c.9077+8C>G
|
rs1325690140
|
0.00003
|
NM_033305.3(VPS13A):c.*1095A>G
|
rs956751748
|
0.00002
|
NM_033305.3(VPS13A):c.*481G>A
|
rs1057515664
|
0.00002
|
NM_033305.3(VPS13A):c.*503C>A
|
rs1057515665
|
0.00002
|
NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg)
|
rs960135788
|
0.00002
|
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=)
|
rs750307161
|
0.00002
|
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter)
|
rs771943305
|
0.00002
|
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser)
|
rs764645153
|
0.00002
|
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=)
|
rs777234852
|
0.00002
|
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)
|
rs916979346
|
0.00002
|
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val)
|
rs770035274
|
0.00002
|
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=)
|
rs369976472
|
0.00002
|
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu)
|
rs781398633
|
0.00002
|
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=)
|
rs773977853
|
0.00002
|
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn)
|
rs769409983
|
0.00002
|
NM_033305.3(VPS13A):c.588T>C (p.His196=)
|
rs192380515
|
0.00002
|
NM_033305.3(VPS13A):c.6379-12T>G
|
rs865850464
|
0.00002
|
NM_033305.3(VPS13A):c.6489C>T (p.His2163=)
|
rs773384343
|
0.00002
|
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn)
|
rs780035378
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser)
|
rs750460516
|
0.00002
|
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=)
|
rs747802503
|
0.00002
|
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val)
|
rs892450419
|
0.00002
|
NM_033305.3(VPS13A):c.7953+1G>A
|
rs372141290
|
0.00002
|
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro)
|
rs758989403
|
0.00002
|
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=)
|
rs755095881
|
0.00002
|
NM_033305.3(VPS13A):c.8211+5G>A
|
rs183316143
|
0.00002
|
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala)
|
rs368916151
|
0.00002
|
NM_033305.3(VPS13A):c.900G>A (p.Glu300=)
|
rs750958608
|
0.00002
|
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)
|
rs199807227
|
0.00002
|
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=)
|
rs538279569
|
0.00002
|
NM_033305.3(VPS13A):c.*1078T>G
|
rs951051787
|
0.00001
|
NM_033305.3(VPS13A):c.*1140A>T
|
rs1360751714
|
0.00001
|
NM_033305.3(VPS13A):c.*663T>C
|
rs1172989781
|
0.00001
|
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg)
|
rs202123189
|
0.00001
|
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=)
|
rs547171069
|
0.00001
|
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)
|
rs750046579
|
0.00001
|
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe)
|
rs1042881230
|
0.00001
|
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu)
|
rs1238647708
|
0.00001
|
NM_033305.3(VPS13A):c.1734T>C (p.Val578=)
|
rs201027855
|
0.00001
|
NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser)
|
rs757058290
|
0.00001
|
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=)
|
rs749655544
|
0.00001
|
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp)
|
rs549929120
|
0.00001
|
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val)
|
rs576941423
|
0.00001
|
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=)
|
rs764549391
|
0.00001
|
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=)
|
rs763126524
|
0.00001
|
NM_033305.3(VPS13A):c.284-4A>G
|
rs534441636
|
0.00001
|
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp)
|
rs769146492
|
0.00001
|
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter)
|
rs1827161118
|
0.00001
|
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val)
|
rs368157358
|
0.00001
|
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=)
|
rs1274810899
|
0.00001
|
NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala)
|
rs542933158
|
0.00001
|
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=)
|
rs527418139
|
0.00001
|
NM_033305.3(VPS13A):c.3813-6T>C
|
rs1057515654
|
0.00001
|
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu)
|
rs781501141
|
0.00001
|
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys)
|
rs1380006812
|
0.00001
|
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser)
|
rs72744294
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala)
|
rs377532527
|
0.00001
|
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=)
|
rs767739134
|
0.00001
|
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val)
|
rs1016550070
|
0.00001
|
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn)
|
rs1034458059
|
0.00001
|
NM_033305.3(VPS13A):c.587A>G (p.His196Arg)
|
rs750690177
|
0.00001
|
NM_033305.3(VPS13A):c.6096-3C>A
|
rs753054165
|
0.00001
|
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=)
|
rs569599272
|
0.00001
|
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys)
|
rs752509925
|
0.00001
|
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys)
|
rs754391863
|
0.00001
|
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe)
|
rs1830592063
|
0.00001
|
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter)
|
rs119477053
|
0.00001
|
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys)
|
rs1168343737
|
0.00001
|
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr)
|
rs763311249
|
0.00001
|
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg)
|
rs771133301
|
0.00001
|
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=)
|
rs192942248
|
0.00001
|
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg)
|
rs1438436648
|
0.00001
|
NM_033305.3(VPS13A):c.7290-10A>G
|
rs777376932
|
0.00001
|
NM_033305.3(VPS13A):c.7489C>T (p.Arg2497Cys)
|
rs762732340
|
0.00001
|
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His)
|
rs766585218
|
0.00001
|
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His)
|
rs762985818
|
0.00001
|
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=)
|
rs774617189
|
0.00001
|
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=)
|
rs753711996
|
0.00001
|
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg)
|
rs558287069
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter)
|
rs771004767
|
0.00001
|
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val)
|
rs780530847
|
0.00001
|
NM_033305.3(VPS13A):c.8325+1G>A
|
rs1459022689
|
0.00001
|
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)
|
rs752608628
|
0.00001
|
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu)
|
rs757219762
|
0.00001
|
NM_033305.3(VPS13A):c.8668-3T>C
|
rs774310931
|
0.00001
|
NM_033305.3(VPS13A):c.9077+8C>T
|
rs1325690140
|
0.00001
|
NM_033305.3(VPS13A):c.9234T>C (p.His3078=)
|
rs766370355
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter)
|
rs148173878
|
0.00001
|
NG_008931.2:g.(188110_192927)_(194341_195522)del
|
|
|
NG_008931.2:g.(?_87553)_(87693_?)del
|
|
|
NM_033305.3(VPS13A):c.*106T>G
|
rs1835160786
|
|
NM_033305.3(VPS13A):c.*1133A>C
|
rs182044001
|
|
NM_033305.3(VPS13A):c.*1248_*1251dup
|
rs1057515668
|
|
NM_033305.3(VPS13A):c.*133CAAA[1]
|
rs914078686
|
|
NM_033305.3(VPS13A):c.*274AGA[1]
|
rs147672353
|
|
NM_033305.3(VPS13A):c.*409A>G
|
rs975807327
|
|
NM_033305.3(VPS13A):c.*694C>A
|
rs115104076
|
|
NM_033305.3(VPS13A):c.*774_*776del
|
rs549219168
|
|
NM_033305.3(VPS13A):c.*81A>G
|
rs1057515661
|
|
NM_033305.3(VPS13A):c.*990T>A
|
rs1203318328
|
|
NM_033305.3(VPS13A):c.-16A>T
|
rs372360076
|
|
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=)
|
rs556865512
|
|
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=)
|
rs774931205
|
|
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg)
|
rs550188251
|
|
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter)
|
rs761923202
|
|
NM_033305.3(VPS13A):c.144+1G>C
|
|
|
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)
|
rs2131030007
|
|
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=)
|
rs757215593
|
|
NM_033305.3(VPS13A):c.1596-10_1596-8del
|
rs748907586
|
|
NM_033305.3(VPS13A):c.159A>G (p.Val53=)
|
rs1057515645
|
|
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
|
|
|
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg)
|
rs1057515651
|
|
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu)
|
rs759600403
|
|
NM_033305.3(VPS13A):c.1900+9C>T
|
rs773690202
|
|
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)
|
rs2131029946
|
|
NM_033305.3(VPS13A):c.2037+191T>C
|
rs10115162
|
|
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His)
|
rs1389344705
|
|
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu)
|
rs1057515652
|
|
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs)
|
rs1825188183
|
|
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter)
|
rs1417246536
|
|
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met)
|
rs1826457641
|
|
NM_033305.3(VPS13A):c.2500del (p.Val834fs)
|
rs2131325474
|
|
NM_033305.3(VPS13A):c.2512+1G>A
|
|
|
NM_033305.3(VPS13A):c.2513-2A>T
|
rs1037030970
|
|
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys)
|
rs119477052
|
|
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn)
|
rs1826653395
|
|
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp)
|
rs757651034
|
|
NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val)
|
rs757651034
|
|
NM_033305.3(VPS13A):c.283+20del
|
rs199782752
|
|
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=)
|
rs1826936558
|
|
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala)
|
rs1248091059
|
|
NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)
|
|
|
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter)
|
rs1827048548
|
|
NM_033305.3(VPS13A):c.295_297del (p.Asp99del)
|
rs759258746
|
|
NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe)
|
rs1169530629
|
|
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
|
|
|
NM_033305.3(VPS13A):c.3118+66A>C
|
rs11145367
|
|
NM_033305.3(VPS13A):c.3340-5_3340-3del
|
rs746510956
|
|
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter)
|
rs780664594
|
|
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs)
|
rs1827795601
|
|
NM_033305.3(VPS13A):c.3508-44G>T
|
rs1317304
|
|
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val)
|
rs1172751806
|
|
NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu)
|
rs1232607771
|
|
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=)
|
rs769379977
|
|
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
|
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_033305.3(VPS13A):c.3961-6del
|
rs3216012
|
|
NM_033305.3(VPS13A):c.3961-6dup
|
rs3216012
|
|
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=)
|
rs773982653
|
|
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn)
|
rs1392223813
|
|
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys)
|
rs1829245513
|
|
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)
|
rs2131427489
|
|
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
|
|
|
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=)
|
rs1829282039
|
|
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter)
|
rs1193250444
|
|
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs)
|
rs2131432786
|
|
NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser)
|
rs1829384544
|
|
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter)
|
rs1829478568
|
|
NM_033305.3(VPS13A):c.496-9C>T
|
rs370541609
|
|
NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg)
|
rs372255312
|
|
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala)
|
rs1181531896
|
|
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp)
|
rs139380985
|
|
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del)
|
rs753852395
|
|
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val)
|
rs1829532129
|
|
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=)
|
rs1829532281
|
|
NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys)
|
rs149067717
|
|
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=)
|
rs1829726014
|
|
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=)
|
rs370144264
|
|
NM_033305.3(VPS13A):c.555+1G>A
|
rs1590003601
|
|
NM_033305.3(VPS13A):c.5574+1G>A
|
rs1829731758
|
|
NM_033305.3(VPS13A):c.5599T>A (p.Ser1867Thr)
|
rs2131449438
|
|
NM_033305.3(VPS13A):c.5687T>C (p.Phe1896Ser)
|
rs1339880855
|
|
NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly)
|
rs1336467149
|
|
NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)
|
|
|
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs)
|
rs1251833565
|
|
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=)
|
rs201300715
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)
|
rs781242821
|
|
NM_033305.3(VPS13A):c.616-47A>T
|
rs2131153308
|
|
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr)
|
rs770789453
|
|
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs)
|
rs1587612257
|
|
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
|
|
|
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs)
|
rs1485186943
|
|
NM_033305.3(VPS13A):c.6379-1G>C
|
|
|
NM_033305.3(VPS13A):c.6485A>T (p.Asn2162Ile)
|
rs769503145
|
|
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp)
|
rs1826073644
|
|
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=)
|
rs1057515657
|
|
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val)
|
rs1287394997
|
|
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer)
|
rs2131153683
|
|
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)
|
rs1830740171
|
|
NM_033305.3(VPS13A):c.6880-6dup
|
rs140476942
|
|
NM_033305.3(VPS13A):c.7027-1G>A
|
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
|
|
|
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser)
|
rs760875004
|
|
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala)
|
rs1057515659
|
|
NM_033305.3(VPS13A):c.7419+1G>A
|
rs763654348
|
|
NM_033305.3(VPS13A):c.7420-4C>T
|
rs764829121
|
|
NM_033305.3(VPS13A):c.755-1G>A
|
|
|
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs)
|
rs748828128
|
|
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His)
|
rs774310423
|
|
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr)
|
rs1587653832
|
|
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
|
|
|
NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)
|
|
|
NM_033305.3(VPS13A):c.8211+9del
|
rs752070804
|
|
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)
|
rs756865623
|
|
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
|
|
|
NM_033305.3(VPS13A):c.8472-11G>T
|
rs1281741862
|
|
NM_033305.3(VPS13A):c.8668-1G>A
|
rs2131587158
|
|
NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr)
|
|
|
NM_033305.3(VPS13A):c.8744-2A>G
|
|
|
NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=)
|
rs998711723
|
|
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe)
|
rs541051874
|
|
NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)
|
|
|
NM_033305.3(VPS13A):c.9189+2495C>T
|
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[6]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[9]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val)
|
rs1057515660
|
|
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
|
|
|
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
|
|
|
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs)
|
rs1834577610
|
|
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter)
|
rs773932109
|
|
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)
|
rs1085307750
|
|
NM_033305.3(VPS13A):c.989+28del
|
rs751974264
|
|
Single allele
|
|
|