NM_033305.3(VPS13A):c.385+267C>T
|
rs7044740
|
0.94344
|
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.188-88_188-87insT
|
rs75101662
|
0.56061
|
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.283+269T>C
|
rs7032408
|
0.51442
|
NM_033305.3(VPS13A):c.101-62A>G
|
rs12552898
|
0.51020
|
NM_033305.3(VPS13A):c.5416-132A>G
|
rs1890899
|
0.50146
|
NM_033305.3(VPS13A):c.144+236T>C
|
rs11145329
|
0.48959
|
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)
|
rs3737289
|
0.40290
|
NM_033305.3(VPS13A):c.6379-22G>T
|
rs55937672
|
0.39670
|
NM_033305.3(VPS13A):c.9078-133A>G
|
rs10869920
|
0.39381
|
NM_033305.3(VPS13A):c.385+249_385+250insA
|
rs58682676
|
0.38576
|
NM_033305.3(VPS13A):c.8553+154A>G
|
rs10491841
|
0.34061
|
NM_033305.3(VPS13A):c.1901-319A>G
|
rs11145357
|
0.30725
|
NM_033305.3(VPS13A):c.9275+139G>C
|
rs12352196
|
0.30447
|
NM_033305.3(VPS13A):c.*1378C>A
|
rs13286867
|
0.30192
|
NM_033305.3(VPS13A):c.9474+152C>T
|
rs62571470
|
0.29750
|
NM_033305.3(VPS13A):c.3508-240T>C
|
rs1317306
|
0.29521
|
NM_033305.3(VPS13A):c.2667+159C>T
|
rs7041795
|
0.28162
|
NM_033305.3(VPS13A):c.3507+235T>A
|
rs62573223
|
0.28126
|
NM_033305.3(VPS13A):c.9078-334C>T
|
rs11145407
|
0.27873
|
NM_033305.3(VPS13A):c.2513-285A>G
|
rs62573203
|
0.22805
|
NM_033305.3(VPS13A):c.3118+182C>T
|
rs955306
|
0.21030
|
NM_033305.3(VPS13A):c.2824+100T>G
|
rs7030802
|
0.21014
|
NM_033305.3(VPS13A):c.1595+282T>G
|
rs1929914
|
0.20538
|
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.5313+298T>C
|
rs17348587
|
0.20379
|
NM_033305.3(VPS13A):c.7806+269A>G
|
rs11145398
|
0.20376
|
NM_033305.3(VPS13A):c.4863+255G>A
|
rs12345256
|
0.20283
|
NM_033305.3(VPS13A):c.*222G>A
|
rs12343797
|
0.19772
|
NM_033305.3(VPS13A):c.101-296C>T
|
rs12551580
|
0.19125
|
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)
|
rs7025532
|
0.18911
|
NM_033305.3(VPS13A):c.990-203A>G
|
rs11145342
|
0.18713
|
NM_033305.3(VPS13A):c.3118+66A>G
|
rs11145367
|
0.18611
|
NM_033305.3(VPS13A):c.556-94G>A
|
rs10869912
|
0.18584
|
NM_033305.3(VPS13A):c.4956+124G>A
|
rs11145384
|
0.16259
|
NM_033305.3(VPS13A):c.7289+83G>A
|
rs7035855
|
0.14724
|
NM_033305.3(VPS13A):c.6378+15A>T
|
rs12348097
|
0.14593
|
NM_033305.3(VPS13A):c.9189+2780A>G
|
rs73451816
|
0.14292
|
NM_033305.3(VPS13A):c.3119-255A>G
|
rs11145368
|
0.12641
|
NM_033305.3(VPS13A):c.6379-27del
|
rs373255264
|
0.12039
|
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)
|
rs11145366
|
0.10477
|
NC_000009.12:g.77177159G>C
|
rs12349251
|
0.10475
|
NM_033305.3(VPS13A):c.6379-27G>T
|
rs56156608
|
0.10471
|
NC_000009.12:g.77177103C>G
|
rs12340377
|
0.10447
|
NM_033305.3(VPS13A):c.2288+20T>C
|
rs12335955
|
0.10447
|
NM_033305.3(VPS13A):c.7290-109G>A
|
rs10491844
|
0.10447
|
NM_033305.3(VPS13A):c.2905-217G>A
|
rs11145364
|
0.10441
|
NM_033305.3(VPS13A):c.2905-190C>A
|
rs12348215
|
0.10435
|
NM_033305.3(VPS13A):c.1357+277G>A
|
rs11145345
|
0.10433
|
NM_033305.3(VPS13A):c.100+200G>T
|
rs45463897
|
0.10253
|
NM_033305.3(VPS13A):c.9077+297C>T
|
rs72746102
|
0.08756
|
NM_033305.3(VPS13A):c.1452+207T>G
|
rs113773210
|
0.08407
|
NM_033305.3(VPS13A):c.*565G>A
|
rs989391
|
0.08398
|
NM_033305.3(VPS13A):c.9189+2821T>C
|
rs7872010
|
0.08150
|
NM_033305.3(VPS13A):c.8553+170A>G
|
rs41289975
|
0.08067
|
NM_033305.3(VPS13A):c.2825-63T>G
|
rs17423029
|
0.07996
|
NM_033305.3(VPS13A):c.2171-69A>C
|
rs17337881
|
0.07905
|
NM_033305.3(VPS13A):c.989+304T>C
|
rs56321547
|
0.07902
|
NM_033305.3(VPS13A):c.883-91T>A
|
rs3802498
|
0.07895
|
NM_033305.3(VPS13A):c.883-92T>C
|
rs3802497
|
0.07895
|
NM_033305.3(VPS13A):c.4631-102T>C
|
rs17339117
|
0.07893
|
NM_033305.3(VPS13A):c.7290-223T>C
|
rs10491845
|
0.07889
|
NM_033305.3(VPS13A):c.6096-221T>A
|
rs148797207
|
0.07867
|
NM_033305.3(VPS13A):c.5416-242T>C
|
rs17339304
|
0.07863
|
NM_033305.3(VPS13A):c.7026+62A>G
|
rs17424248
|
0.07843
|
NM_033305.3(VPS13A):c.1452+221_1452+222insG
|
rs200035069
|
0.07785
|
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.385+250T>A
|
rs45495494
|
0.07484
|
NM_033305.3(VPS13A):c.6379-7A>T
|
rs759586753
|
0.07351
|
NM_033305.3(VPS13A):c.8472-300C>G
|
rs10491842
|
0.06768
|
NM_033305.3(VPS13A):c.7027-54A>G
|
rs72746022
|
0.06290
|
NM_033305.3(VPS13A):c.6095+258T>C
|
rs62573229
|
0.06117
|
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.9399+197T>C
|
rs72748232
|
0.05654
|
NM_033305.3(VPS13A):c.9400-169T>C
|
rs41289983
|
0.05648
|
NM_033305.3(VPS13A):c.8667+106A>G
|
rs17340234
|
0.05621
|
NM_033305.3(VPS13A):c.8553+227G>A
|
rs72746098
|
0.05617
|
NM_033305.3(VPS13A):c.5992-308A>G
|
rs55882247
|
0.05554
|
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.1452+246C>T
|
rs117596516
|
0.05447
|
NM_033305.3(VPS13A):c.2288+242T>C
|
rs72744208
|
0.05317
|
NM_033305.3(VPS13A):c.696+176C>T
|
rs72742573
|
0.05268
|
NM_033305.3(VPS13A):c.1596-31C>T
|
rs72742601
|
0.05251
|
NM_033305.3(VPS13A):c.755-314C>T
|
rs72742583
|
0.05234
|
NM_033305.3(VPS13A):c.697-168A>G
|
rs145189157
|
0.05229
|
NM_033305.3(VPS13A):c.883-16A>C
|
rs72742584
|
0.05222
|
NM_033305.3(VPS13A):c.1224+139T>C
|
rs55943354
|
0.05218
|
NM_033305.3(VPS13A):c.9077+233C>T
|
rs77540375
|
0.04818
|
NM_033305.3(VPS13A):c.616-83C>T
|
rs17195354
|
0.04723
|
NM_033305.3(VPS13A):c.2288+210A>C
|
rs79009043
|
0.03893
|
NM_033305.3(VPS13A):c.7807-105T>C
|
rs72746088
|
0.03821
|
NM_033305.3(VPS13A):c.1225-190A>C
|
rs76264684
|
0.03707
|
NM_033305.3(VPS13A):c.9189+121T>C
|
rs62571465
|
0.03694
|
NM_033305.3(VPS13A):c.283+115A>G
|
rs62573171
|
0.03683
|
NM_033305.3(VPS13A):c.2428-179T>G
|
rs1934727
|
0.03142
|
NM_033305.3(VPS13A):c.2667+169T>A
|
rs114175659
|
0.02831
|
NM_033305.3(VPS13A):c.8554-66A>C
|
rs73449984
|
0.02705
|
NM_033305.3(VPS13A):c.*942C>T
|
rs1048743
|
0.02380
|
NM_033305.3(VPS13A):c.9077+55G>C
|
rs76031760
|
0.02370
|
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.754+273A>G
|
rs10521477
|
0.02311
|
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=)
|
rs76751358
|
0.02305
|
NM_033305.3(VPS13A):c.2171-174C>T
|
rs17063441
|
0.02302
|
NM_033305.3(VPS13A):c.2718A>G (p.Val906=)
|
rs79287753
|
0.02299
|
NM_033305.3(VPS13A):c.2428-51C>T
|
rs17063465
|
0.02298
|
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys)
|
rs76077278
|
0.02297
|
NM_033305.3(VPS13A):c.989+256G>C
|
rs115333531
|
0.02246
|
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.6378+130A>G
|
rs116618538
|
0.01734
|
NM_033305.3(VPS13A):c.2038-146G>A
|
rs13297451
|
0.01726
|
NM_033305.3(VPS13A):c.7420-212A>G
|
rs114181170
|
0.01666
|
NM_033305.3(VPS13A):c.4114+52C>T
|
rs78364594
|
0.01657
|
NM_033305.3(VPS13A):c.2512+214A>C
|
rs114659974
|
0.01570
|
NM_033305.3(VPS13A):c.6379-22del
|
rs373972850
|
0.01494
|
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.6379-17T>G
|
rs373072093
|
0.00604
|
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.9190-20C>T
|
rs140755181
|
0.00360
|
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.8472-18T>C
|
rs144309670
|
0.00317
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_033305.3(VPS13A):c.8954-16T>G
|
rs201567222
|
0.00210
|
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.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.8016G>C (p.Lys2672Asn)
|
rs77984203
|
0.00100
|
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.4631-17A>G
|
rs188844161
|
0.00079
|
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=)
|
rs73467955
|
0.00070
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
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.144+15T>C
|
rs182861770
|
0.00029
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn)
|
rs188070090
|
0.00026
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
NM_033305.3(VPS13A):c.1453-15C>T
|
rs200334710
|
0.00020
|
NM_033305.3(VPS13A):c.6096-16A>T
|
rs146835491
|
0.00017
|
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=)
|
rs117654083
|
0.00016
|
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val)
|
rs185663133
|
0.00011
|
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.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=)
|
rs367698917
|
0.00004
|
NM_033305.3(VPS13A):c.588T>C (p.His196=)
|
rs192380515
|
0.00002
|
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala)
|
rs368916151
|
0.00002
|
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val)
|
rs576941423
|
0.00001
|
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=)
|
rs527418139
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
GRCh37/hg19 9q21.2(chr9:79816489-80020818)x3
|
|
|
GRCh37/hg19 9q21.2(chr9:79818630-79980392)x3
|
|
|
GRCh37/hg19 9q21.2(chr9:79818630-80018236)x3
|
|
|
GRCh37/hg19 9q21.2(chr9:79818630-80031144)x3
|
|
|
NM_033305.3(VPS13A):c.*274AGA[1]
|
rs147672353
|
|
NM_033305.3(VPS13A):c.*694C>A
|
rs115104076
|
|
NM_033305.3(VPS13A):c.100+225G>A
|
rs114803328
|
|
NM_033305.3(VPS13A):c.101-13del
|
|
|
NM_033305.3(VPS13A):c.101-175_101-174del
|
rs36096139
|
|
NM_033305.3(VPS13A):c.101-3dup
|
rs752636187
|
|
NM_033305.3(VPS13A):c.1161+134G>A
|
rs7040714
|
|
NM_033305.3(VPS13A):c.1162-4dup
|
|
|
NM_033305.3(VPS13A):c.145-7dup
|
|
|
NM_033305.3(VPS13A):c.1452+13C>A
|
|
|
NM_033305.3(VPS13A):c.1452+229dup
|
rs57093981
|
|
NM_033305.3(VPS13A):c.1453-203dup
|
rs138653344
|
|
NM_033305.3(VPS13A):c.1595+24del
|
|
|
NM_033305.3(VPS13A):c.1595+24dup
|
|
|
NM_033305.3(VPS13A):c.1596-10_1596-8del
|
rs748907586
|
|
NM_033305.3(VPS13A):c.1596-8del
|
|
|
NM_033305.3(VPS13A):c.1596-8dup
|
rs748907586
|
|
NM_033305.3(VPS13A):c.1785+14del
|
|
|
NM_033305.3(VPS13A):c.188-6dup
|
|
|
NM_033305.3(VPS13A):c.2037+191T>C
|
rs10115162
|
|
NM_033305.3(VPS13A):c.2289-16del
|
|
|
NM_033305.3(VPS13A):c.2289-4del
|
|
|
NM_033305.3(VPS13A):c.2427+150del
|
rs750675055
|
|
NM_033305.3(VPS13A):c.2428-181A>G
|
rs72744218
|
|
NM_033305.3(VPS13A):c.2667+158_2667+159insT
|
rs202033641
|
|
NM_033305.3(VPS13A):c.2667+169dup
|
rs368058162
|
|
NM_033305.3(VPS13A):c.283+20del
|
rs199782752
|
|
NM_033305.3(VPS13A):c.283+20dup
|
|
|
NM_033305.3(VPS13A):c.284-14del
|
|
|
NM_033305.3(VPS13A):c.2905-127TA[10]
|
rs111517856
|
|
NM_033305.3(VPS13A):c.2905-127TA[8]
|
rs111517856
|
|
NM_033305.3(VPS13A):c.2964+18A>G
|
|
|
NM_033305.3(VPS13A):c.3118+11dup
|
rs767593595
|
|
NM_033305.3(VPS13A):c.3118+41del
|
rs11316008
|
|
NM_033305.3(VPS13A):c.3118+66A>C
|
rs11145367
|
|
NM_033305.3(VPS13A):c.3119-339G>T
|
rs62573221
|
|
NM_033305.3(VPS13A):c.3119-5del
|
rs536731890
|
|
NM_033305.3(VPS13A):c.3119-5dup
|
rs536731890
|
|
NM_033305.3(VPS13A):c.3339+331del
|
rs779066797
|
|
NM_033305.3(VPS13A):c.3508-44G>T
|
rs1317304
|
|
NM_033305.3(VPS13A):c.385+250_385+251del
|
rs71930615
|
|
NM_033305.3(VPS13A):c.385+250_385+251insA
|
rs776724808
|
|
NM_033305.3(VPS13A):c.385+250_385+251insATA
|
rs776724808
|
|
NM_033305.3(VPS13A):c.385+250_385+251insATATA
|
rs776724808
|
|
NM_033305.3(VPS13A):c.385+251TA[9]
|
rs58922469
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_033305.3(VPS13A):c.386-337C>T
|
rs10869910
|
|
NM_033305.3(VPS13A):c.3960+11_3960+12del
|
|
|
NM_033305.3(VPS13A):c.3961-6del
|
rs3216012
|
|
NM_033305.3(VPS13A):c.3961-6dup
|
rs3216012
|
|
NM_033305.3(VPS13A):c.3961-7_3961-6dup
|
|
|
NM_033305.3(VPS13A):c.4114+10del
|
|
|
NM_033305.3(VPS13A):c.4412+174T>G
|
rs17339033
|
|
NM_033305.3(VPS13A):c.4412+215C>A
|
rs7855014
|
|
NM_033305.3(VPS13A):c.4630+178dup
|
rs11454108
|
|
NM_033305.3(VPS13A):c.4957-9del
|
|
|
NM_033305.3(VPS13A):c.496-248G>T
|
rs10869911
|
|
NM_033305.3(VPS13A):c.496-264C>A
|
rs117509387
|
|
NM_033305.3(VPS13A):c.5314-324dup
|
rs146346789
|
|
NM_033305.3(VPS13A):c.556-10del
|
|
|
NM_033305.3(VPS13A):c.556-10dup
|
rs767393485
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.6096-256G>A
|
rs7023646
|
|
NM_033305.3(VPS13A):c.6379-10_6379-8del
|
|
|
NM_033305.3(VPS13A):c.6880-6del
|
|
|
NM_033305.3(VPS13A):c.6880-6dup
|
rs140476942
|
|
NM_033305.3(VPS13A):c.696+15dup
|
|
|
NM_033305.3(VPS13A):c.696+199_696+200del
|
rs527345941
|
|
NM_033305.3(VPS13A):c.696+200del
|
rs527345941
|
|
NM_033305.3(VPS13A):c.696+200dup
|
rs527345941
|
|
NM_033305.3(VPS13A):c.696+286A>G
|
rs72742574
|
|
NM_033305.3(VPS13A):c.697-236T>C
|
rs151150023
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033305.3(VPS13A):c.7155+21dup
|
|
|
NM_033305.3(VPS13A):c.7156-234del
|
rs375699491
|
|
NM_033305.3(VPS13A):c.7420-17dup
|
rs368165342
|
|
NM_033305.3(VPS13A):c.754+13del
|
|
|
NM_033305.3(VPS13A):c.7652+19del
|
|
|
NM_033305.3(VPS13A):c.7653-208C>T
|
rs1327544
|
|
NM_033305.3(VPS13A):c.7953+134_7953+135dup
|
rs5898534
|
|
NM_033305.3(VPS13A):c.7953+135dup
|
rs5898534
|
|
NM_033305.3(VPS13A):c.7954-11del
|
|
|
NM_033305.3(VPS13A):c.8035+10del
|
rs1214693561
|
|
NM_033305.3(VPS13A):c.8211+9del
|
rs752070804
|
|
NM_033305.3(VPS13A):c.8908-149dup
|
rs3841736
|
|
NM_033305.3(VPS13A):c.8954-9del
|
|
|
NM_033305.3(VPS13A):c.8954-9dup
|
|
|
NM_033305.3(VPS13A):c.9078-8dup
|
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[10]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[12]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[6]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9399+171del
|
rs11325886
|
|
NM_033305.3(VPS13A):c.9399+24dup
|
|
|
NM_033305.3(VPS13A):c.9400-15A>G
|
|
|
NM_033305.3(VPS13A):c.9475-43G>T
|
rs2274486
|
|
NM_033305.3(VPS13A):c.989+28dup
|
rs751974264
|
|
NM_033305.3(VPS13A):c.990-7dup
|
rs781355894
|
|