ClinVar Miner

List of variants in gene VPS13A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3084
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HGVS dbSNP gnomAD frequency
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.*565G>A rs989391 0.08857
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.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.4412+142C>T rs62573226 0.02802
NM_033305.3(VPS13A):c.7954-153C>T rs62573250 0.02801
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.2905-124A>G rs569253495 0.02288
NM_033305.3(VPS13A):c.989+256G>C rs115333531 0.02246
NM_033305.3(VPS13A):c.7420-14T>G rs753361532 0.02142
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=) rs79914457 0.02054
NM_033305.3(VPS13A):c.101-195G>T rs139379490 0.01941
NM_033305.3(VPS13A):c.1453-36A>G rs72742592 0.01870
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) rs78048112 0.01850
NM_033305.3(VPS13A):c.1161+77T>G rs7029923 0.01845
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01788
NM_033305.3(VPS13A):c.8667+307A>G rs61031721 0.01752
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.697-87C>T rs111563196 0.01617
NM_033305.3(VPS13A):c.2512+201G>A rs79124686 0.01599
NM_033305.3(VPS13A):c.2512+214A>C rs114659974 0.01570
NM_033305.3(VPS13A):c.697-161C>T rs41289959 0.01552
NM_033305.3(VPS13A):c.4115-197A>T rs114179183 0.01543
NM_033305.3(VPS13A):c.1224+165_1224+166insA rs201330035 0.01540
NM_033305.3(VPS13A):c.385+76T>C rs73651497 0.01532
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.3507+210T>C rs79061111 0.01416
NM_033305.3(VPS13A):c.7807-241A>G rs73449957 0.01405
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) rs73466058 0.01375
NM_033305.3(VPS13A):c.8106-241A>G rs111823808 0.01370
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.2824+223A>G rs73466092 0.01334
NM_033305.3(VPS13A):c.4115-62G>T rs73654010 0.01332
NM_033305.3(VPS13A):c.696+153A>G rs7037530 0.01329
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) rs73449933 0.01319
NM_033305.3(VPS13A):c.145-206A>G rs146795997 0.01303
NM_033305.3(VPS13A):c.2428-52G>A rs73654008 0.01295
NM_033305.3(VPS13A):c.7806+6A>G rs74810255 0.01231
NM_033305.3(VPS13A):c.3118+264A>T rs184665300 0.00996
NM_033305.3(VPS13A):c.3813-259A>G rs114484950 0.00972
NM_033305.3(VPS13A):c.1452+222T>G rs149830183 0.00956
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_033305.3(VPS13A):c.9078-259C>T rs76144730 0.00942
NM_033305.3(VPS13A):c.8106-344G>A rs112304101 0.00940
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=) rs115565179 0.00932
NM_033305.3(VPS13A):c.7653-24A>G rs73449955 0.00855
NM_033305.3(VPS13A):c.6880-19G>C rs183040221 0.00852
NM_033305.3(VPS13A):c.7652+90C>G rs73449947 0.00850
NM_033305.3(VPS13A):c.9475-210A>G rs73451892 0.00840
NM_033305.3(VPS13A):c.8211+104A>G rs117318023 0.00818
NM_033305.3(VPS13A):c.3508-38A>G rs41289963 0.00817
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_033305.3(VPS13A):c.1901-156T>C rs117366351 0.00816
NM_033305.3(VPS13A):c.187+166T>C rs117478720 0.00813
NM_033305.3(VPS13A):c.755-100A>T rs143009104 0.00805
NM_033305.3(VPS13A):c.7290-237G>A rs145607655 0.00785
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) rs115443572 0.00762
NM_033305.3(VPS13A):c.1595+292del rs200298432 0.00719
NM_033305.3(VPS13A):c.1358-29A>G rs139845549 0.00710
NM_033305.3(VPS13A):c.8554-259A>G rs139473511 0.00685
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_033305.3(VPS13A):c.283+113A>G rs146299716 0.00652
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_033305.3(VPS13A):c.5313+62A>G rs138693074 0.00645
NM_033305.3(VPS13A):c.5416-116T>C rs140030316 0.00645
NM_033305.3(VPS13A):c.3813-207G>T rs146160012 0.00644
NM_033305.3(VPS13A):c.2427+277G>A rs145101460 0.00643
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) rs146280301 0.00643
NM_033305.3(VPS13A):c.7289+174G>A rs150656442 0.00643
NM_033305.3(VPS13A):c.2170+68T>G rs116148204 0.00642
NM_033305.3(VPS13A):c.6096-212C>T rs143906404 0.00641
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=) rs139753431 0.00641
NM_033305.3(VPS13A):c.7156-301G>A rs143000072 0.00641
NM_033305.3(VPS13A):c.4863+115T>C rs146714554 0.00640
NM_033305.3(VPS13A):c.3813-15T>C rs145835861 0.00639
NM_033305.3(VPS13A):c.283+206T>G rs145102174 0.00638
NM_033305.3(VPS13A):c.8035+254A>G rs144653233 0.00636
NM_033305.3(VPS13A):c.2289-234A>G rs149033762 0.00630
NM_033305.3(VPS13A):c.4957-260_4957-251del rs555782021 0.00623
NM_033305.3(VPS13A):c.8106-250T>C rs114612948 0.00621
NM_033305.3(VPS13A):c.9077+184A>G rs141275696 0.00615
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_033305.3(VPS13A):c.697-208C>T rs141094045 0.00607
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00604
NM_033305.3(VPS13A):c.5415+118C>T rs143234977 0.00603
NM_033305.3(VPS13A):c.9189+2408T>G rs78153184 0.00591
NM_033305.3(VPS13A):c.6378+289T>C rs185558532 0.00584
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.9189+2618del rs144097110 0.00570
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_033305.3(VPS13A):c.1453-133A>G rs147936999 0.00544
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_033305.3(VPS13A):c.3813-268T>C rs115841159 0.00526
NM_033305.3(VPS13A):c.3813-86T>C rs149821102 0.00522
NM_033305.3(VPS13A):c.8668-21A>G rs150455121 0.00518
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_033305.3(VPS13A):c.8325+106A>G rs78677108 0.00509
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.3960+193T>G rs76315371 0.00484
NM_033305.3(VPS13A):c.7954-43A>G rs138796581 0.00482
NM_033305.3(VPS13A):c.3961-207A>G rs189740045 0.00481
NM_033305.3(VPS13A):c.7652+152G>A rs138938100 0.00475
NM_033305.3(VPS13A):c.1901-295G>A rs115579781 0.00473
NM_033305.3(VPS13A):c.7156-328C>T rs528024979 0.00465
NM_033305.3(VPS13A):c.1161+240A>C rs77433197 0.00461
NM_033305.3(VPS13A):c.6379-109G>A rs7860505 0.00442
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.9189+2216C>G rs145236633 0.00368
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.3339+235G>T rs145135822 0.00319
NM_033305.3(VPS13A):c.8472-18T>C rs144309670 0.00317
NM_033305.3(VPS13A):c.3960+31G>A rs185170279 0.00311
NM_033305.3(VPS13A):c.8908-101A>G rs187463668 0.00299
NM_033305.3(VPS13A):c.989+64G>A rs115990821 0.00299
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.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.2814A>G (p.Pro938=) rs145346590 0.00093
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.8667+27C>T rs117602930 0.00064
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.8712A>G (p.Leu2904=) rs146607868 0.00059
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00057
NM_033305.3(VPS13A):c.1750A>G (p.Ile584Val) rs144871320 0.00056
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.188-16T>C rs538417363 0.00039
NM_033305.3(VPS13A):c.8668-10G>C rs371453974 0.00039
NM_033305.3(VPS13A):c.9275+37G>C rs186601595 0.00037
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.6775-17G>A rs373170406 0.00034
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.2825-15A>T rs370681843 0.00030
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.4957-17A>G rs200757505 0.00029
NM_033305.3(VPS13A):c.6500G>A (p.Ser2167Asn) rs138417091 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.1158G>A (p.Leu386=) rs143574886 0.00021
NM_033305.3(VPS13A):c.621C>T (p.Ile207=) rs146941948 0.00021
NM_033305.3(VPS13A):c.6379-19T>G rs766881111 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.6096-16A>T rs146835491 0.00017
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.7047G>A (p.Glu2349=) rs552113529 0.00015
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.126A>G (p.Gln42=) rs140518771 0.00013
NM_033305.3(VPS13A):c.1638A>C (p.Pro546=) rs141907906 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.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.1150G>A (p.Val384Met) rs139444683 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.5454T>C (p.Asp1818=) rs149575608 0.00010
NM_033305.3(VPS13A):c.7761T>G (p.Ser2587=) rs1469426377 0.00010
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) rs146265794 0.00009
NM_033305.3(VPS13A):c.1596-8T>A rs764520574 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.398C>T (p.Pro133Leu) rs202090510 0.00009
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser) rs182495915 0.00009
NM_033305.3(VPS13A):c.6973A>G (p.Ile2325Val) rs146400320 0.00009
NM_033305.3(VPS13A):c.9475-4G>A rs76198745 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.3660C>T (p.Ile1220=) rs779999348 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.9475-5C>T rs536300138 0.00007
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=) rs151069489 0.00006
NM_033305.3(VPS13A):c.3600C>T (p.Leu1200=) rs376174010 0.00006
NM_033305.3(VPS13A):c.4095T>C (p.Asn1365=) rs558203127 0.00006
NM_033305.3(VPS13A):c.5613C>T (p.Phe1871=) rs139782359 0.00006
NM_033305.3(VPS13A):c.6179G>A (p.Gly2060Asp) rs376686297 0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) rs758912053 0.00006
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808 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.2160C>T (p.Tyr720=) rs748268509 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.4746A>G (p.Gln1582=) rs139882278 0.00005
NM_033305.3(VPS13A):c.5844T>C (p.His1948=) rs537501546 0.00005
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=) rs191925614 0.00005
NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter) rs764376151 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.7897G>A (p.Glu2633Lys) rs746604299 0.00005
NM_033305.3(VPS13A):c.8775C>T (p.Thr2925=) rs200321658 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.9465G>C (p.Glu3155Asp) rs200351756 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_033305.3(VPS13A):c.100+19C>T rs376153095 0.00004
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=) rs367698917 0.00004
NM_033305.3(VPS13A):c.141C>T (p.Ala47=) rs1025656538 0.00004
NM_033305.3(VPS13A):c.303A>G (p.Leu101=) rs957175708 0.00004
NM_033305.3(VPS13A):c.3119-17T>C rs769271046 0.00004
NM_033305.3(VPS13A):c.3235+8A>G rs763153645 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.4957-6A>G rs916277295 0.00004
NM_033305.3(VPS13A):c.5466A>G (p.Glu1822=) rs539417347 0.00004
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) rs1042736663 0.00004
NM_033305.3(VPS13A):c.6081A>G (p.Pro2027=) rs1172649876 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.6840T>C (p.His2280=) rs750072063 0.00004
NM_033305.3(VPS13A):c.6891T>A (p.Thr2297=) rs777929680 0.00004
NM_033305.3(VPS13A):c.7152C>T (p.Asn2384=) rs755256495 0.00004
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=) rs779653365 0.00004
NM_033305.3(VPS13A):c.7290-4T>G rs1042829625 0.00004
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) rs574650880 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_033305.3(VPS13A):c.8046C>G (p.Pro2682=) rs753580418 0.00004
NM_033305.3(VPS13A):c.8223T>C (p.Phe2741=) rs774454191 0.00004
NM_033305.3(VPS13A):c.8565G>A (p.Gln2855=) rs141340832 0.00004
NM_033305.3(VPS13A):c.9367del (p.Val3123fs) rs1358293369 0.00004
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) rs368425803 0.00004
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=) rs760025315 0.00003
NM_033305.3(VPS13A):c.187+8A>G rs1396479624 0.00003
NM_033305.3(VPS13A):c.2247A>G (p.Glu749=) rs766064605 0.00003
NM_033305.3(VPS13A):c.2259C>T (p.Ala753=) rs755393666 0.00003
NM_033305.3(VPS13A):c.2289-7A>G rs942042782 0.00003
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665 0.00003
NM_033305.3(VPS13A):c.2541A>G (p.Pro847=) rs930824912 0.00003
NM_033305.3(VPS13A):c.2667+4G>A rs748465954 0.00003
NM_033305.3(VPS13A):c.2676C>T (p.Ile892=) rs151122313 0.00003
NM_033305.3(VPS13A):c.2831A>G (p.Asn944Ser) rs774168415 0.00003
NM_033305.3(VPS13A):c.3606A>G (p.Gln1202=) rs370572663 0.00003
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=) rs143022525 0.00003
NM_033305.3(VPS13A):c.4635T>C (p.Pro1545=) rs368113095 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.6051T>C (p.Thr2017=) rs1201770277 0.00003
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) rs201208791 0.00003
NM_033305.3(VPS13A):c.636G>C (p.Leu212=) rs1017574389 0.00003
NM_033305.3(VPS13A):c.6379-8T>A rs972074290 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.7185G>A (p.Leu2395=) rs754546678 0.00003
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=) rs554457655 0.00003
NM_033305.3(VPS13A):c.7806+8T>C rs747369134 0.00003
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) rs368161466 0.00003
NM_033305.3(VPS13A):c.8352C>T (p.Ser2784=) rs747984632 0.00003
NM_033305.3(VPS13A):c.8725C>T (p.Leu2909=) rs137866930 0.00003
NM_033305.3(VPS13A):c.8953+8T>C rs368211869 0.00003
NM_033305.3(VPS13A):c.9077+8C>G rs1325690140 0.00003
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser) rs768641511 0.00003
NM_033305.3(VPS13A):c.1011C>T (p.Gly337=) rs1050278809 0.00002
NM_033305.3(VPS13A):c.1224+19A>G rs374712100 0.00002
NM_033305.3(VPS13A):c.1302A>G (p.Leu434=) rs776673056 0.00002
NM_033305.3(VPS13A):c.1324A>G (p.Thr442Ala) rs767220287 0.00002
NM_033305.3(VPS13A):c.138T>C (p.Asn46=) rs376952243 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.2364G>A (p.Leu788=) rs770433379 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.3033T>C (p.His1011=) rs142588824 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_033305.3(VPS13A):c.3163T>C (p.Leu1055=) rs545543941 0.00002
NM_033305.3(VPS13A):c.3177G>A (p.Ser1059=) rs756705615 0.00002
NM_033305.3(VPS13A):c.3508-9A>G rs765612230 0.00002
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) rs770035274 0.00002
NM_033305.3(VPS13A):c.3912C>T (p.Tyr1304=) rs752531441 0.00002
NM_033305.3(VPS13A):c.3975A>G (p.Gln1325=) rs536093048 0.00002
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) rs369976472 0.00002
NM_033305.3(VPS13A):c.4530C>T (p.Ser1510=) rs746350172 0.00002
NM_033305.3(VPS13A):c.4716T>C (p.Asn1572=) rs748187577 0.00002
NM_033305.3(VPS13A):c.471T>C (p.Ser157=) rs772957048 0.00002
NM_033305.3(VPS13A):c.5010A>G (p.Thr1670=) rs765201493 0.00002
NM_033305.3(VPS13A):c.5037G>A (p.Thr1679=) rs369887529 0.00002
NM_033305.3(VPS13A):c.519G>A (p.Leu173=) rs766587340 0.00002
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) rs781398633 0.00002
NM_033305.3(VPS13A):c.5314-10C>A rs766983123 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.6228A>G (p.Ser2076=) rs767101054 0.00002
NM_033305.3(VPS13A):c.6252A>G (p.Glu2084=) rs535196763 0.00002
NM_033305.3(VPS13A):c.6340C>T (p.Arg2114Ter) rs1417854249 0.00002
NM_033305.3(VPS13A):c.6379-12T>G rs865850464 0.00002
NM_033305.3(VPS13A):c.6393G>A (p.Ser2131=) rs778412896 0.00002
NM_033305.3(VPS13A):c.6489C>T (p.His2163=) rs773384343 0.00002
NM_033305.3(VPS13A):c.7027-7A>G rs761096690 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=) rs747802503 0.00002
NM_033305.3(VPS13A):c.7246T>C (p.Leu2416=) rs1453912435 0.00002
NM_033305.3(VPS13A):c.7290-9C>T rs1257970742 0.00002
NM_033305.3(VPS13A):c.7420-4C>A rs764829121 0.00002
NM_033305.3(VPS13A):c.7645A>G (p.Ile2549Val) rs966562429 0.00002
NM_033305.3(VPS13A):c.7779G>A (p.Lys2593=) rs758623988 0.00002
NM_033305.3(VPS13A):c.7807-14G>C rs1554670634 0.00002
NM_033305.3(VPS13A):c.7868G>A (p.Arg2623Gln) rs765235573 0.00002
NM_033305.3(VPS13A):c.7953+1G>A rs372141290 0.00002
NM_033305.3(VPS13A):c.7953+7C>A rs1477783159 0.00002
NM_033305.3(VPS13A):c.8019G>A (p.Ser2673=) rs149390014 0.00002
NM_033305.3(VPS13A):c.8106-4A>G rs1471850455 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.8529A>G (p.Glu2843=) rs1394685252 0.00002
NM_033305.3(VPS13A):c.8553+9A>G rs777867962 0.00002
NM_033305.3(VPS13A):c.8667+7T>G rs772455203 0.00002
NM_033305.3(VPS13A):c.8830A>G (p.Lys2944Glu) rs776346441 0.00002
NM_033305.3(VPS13A):c.8856A>G (p.Gln2952=) rs763510106 0.00002
NM_033305.3(VPS13A):c.900G>A (p.Glu300=) rs750958608 0.00002
NM_033305.3(VPS13A):c.903T>G (p.Leu301=) rs780283172 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_033305.3(VPS13A):c.9366T>C (p.Ile3122=) rs780859489 0.00002
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=) rs538279569 0.00002
NM_033305.3(VPS13A):c.975C>T (p.His325=) rs1380654828 0.00002
NM_033305.3(VPS13A):c.1074T>C (p.His358=) rs1300801498 0.00001
NM_033305.3(VPS13A):c.1122A>G (p.Thr374=) rs780779111 0.00001
NM_033305.3(VPS13A):c.1161+15T>A rs760705525 0.00001
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=) rs547171069 0.00001
NM_033305.3(VPS13A):c.1194A>T (p.Ile398=) rs1405485475 0.00001
NM_033305.3(VPS13A):c.1224+7C>T rs1301313314 0.00001
NM_033305.3(VPS13A):c.1225-10T>C rs1215477582 0.00001
NM_033305.3(VPS13A):c.1225-7A>C rs748899324 0.00001
NM_033305.3(VPS13A):c.1227A>G (p.Val409=) rs1342668154 0.00001
NM_033305.3(VPS13A):c.1260A>G (p.Gly420=) rs772376308 0.00001
NM_033305.3(VPS13A):c.1287G>A (p.Gly429=) rs200142175 0.00001
NM_033305.3(VPS13A):c.1350A>G (p.Gln450=) rs780308515 0.00001
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=) rs750046579 0.00001
NM_033305.3(VPS13A):c.1386A>G (p.Glu462=) rs1437513368 0.00001
NM_033305.3(VPS13A):c.1413C>A (p.Gly471=) rs781622106 0.00001
NM_033305.3(VPS13A):c.1443A>G (p.Leu481=) rs1823580850 0.00001
NM_033305.3(VPS13A):c.1453-5C>T rs1488642209 0.00001
NM_033305.3(VPS13A):c.1548A>G (p.Glu516=) rs753028293 0.00001
NM_033305.3(VPS13A):c.1596-5T>C rs757800423 0.00001
NM_033305.3(VPS13A):c.1596-7A>C rs754256562 0.00001
NM_033305.3(VPS13A):c.1602A>G (p.Glu534=) rs765708251 0.00001
NM_033305.3(VPS13A):c.1617A>G (p.Ser539=) rs780368971 0.00001
NM_033305.3(VPS13A):c.1632C>T (p.Gly544=) rs1315288375 0.00001
NM_033305.3(VPS13A):c.1665G>C (p.Leu555=) rs760404689 0.00001
NM_033305.3(VPS13A):c.1683A>G (p.Ala561=) rs777028557 0.00001
NM_033305.3(VPS13A):c.1734T>C (p.Val578=) rs201027855 0.00001
NM_033305.3(VPS13A):c.1786-10A>G rs773816942 0.00001
NM_033305.3(VPS13A):c.1817G>A (p.Arg606Lys) rs757010076 0.00001
NM_033305.3(VPS13A):c.1839A>G (p.Leu613=) rs1824272571 0.00001
NM_033305.3(VPS13A):c.188-2A>G rs1312425146 0.00001
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) rs749655544 0.00001
NM_033305.3(VPS13A):c.1968T>A (p.Ile656=) rs918529816 0.00001
NM_033305.3(VPS13A):c.2142A>G (p.Thr714=) rs1424295857 0.00001
NM_033305.3(VPS13A):c.2145T>C (p.Ser715=) rs781229838 0.00001
NM_033305.3(VPS13A):c.2149C>T (p.Gln717Ter) rs1825075709 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.2310A>G (p.Leu770=) rs1305857818 0.00001
NM_033305.3(VPS13A):c.2349A>G (p.Gln783=) rs1825673435 0.00001
NM_033305.3(VPS13A):c.2428-9T>A rs920701517 0.00001
NM_033305.3(VPS13A):c.243C>T (p.Ala81=) rs751585852 0.00001
NM_033305.3(VPS13A):c.24G>A (p.Val8=) rs143617269 0.00001
NM_033305.3(VPS13A):c.2640A>C (p.Thr880=) rs746571518 0.00001
NM_033305.3(VPS13A):c.2668-4C>T rs780925219 0.00001
NM_033305.3(VPS13A):c.2709A>C (p.Leu903=) rs1256989711 0.00001
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=) rs763126524 0.00001
NM_033305.3(VPS13A):c.279T>C (p.Ser93=) rs949909507 0.00001
NM_033305.3(VPS13A):c.2824+9C>A rs776926557 0.00001
NM_033305.3(VPS13A):c.284-4A>G rs534441636 0.00001
NM_033305.3(VPS13A):c.2850G>A (p.Leu950=) rs775579367 0.00001
NM_033305.3(VPS13A):c.294T>C (p.Tyr98=) rs1216297064 0.00001
NM_033305.3(VPS13A):c.2997C>T (p.His999=) rs1827064208 0.00001
NM_033305.3(VPS13A):c.3036T>C (p.Asn1012=) rs1219346057 0.00001
NM_033305.3(VPS13A):c.3114A>G (p.Lys1038=) rs1054332077 0.00001
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00001
NM_033305.3(VPS13A):c.3183A>G (p.Leu1061=) rs749986857 0.00001
NM_033305.3(VPS13A):c.3189C>T (p.Ile1063=) rs1180522943 0.00001
NM_033305.3(VPS13A):c.3231T>C (p.Ile1077=) rs781746559 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.3255T>C (p.Ile1085=) rs778359537 0.00001
NM_033305.3(VPS13A):c.3322A>G (p.Thr1108Ala) rs751155999 0.00001
NM_033305.3(VPS13A):c.3339+10C>A rs561212771 0.00001
NM_033305.3(VPS13A):c.3354T>C (p.Thr1118=) rs1249846760 0.00001
NM_033305.3(VPS13A):c.3372C>T (p.Ser1124=) rs767214865 0.00001
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) rs1274810899 0.00001
NM_033305.3(VPS13A):c.3429T>C (p.Asn1143=) rs780209573 0.00001
NM_033305.3(VPS13A):c.3474A>C (p.Val1158=) rs774916151 0.00001
NM_033305.3(VPS13A):c.3486G>A (p.Thr1162=) rs762176805 0.00001
NM_033305.3(VPS13A):c.3495A>G (p.Leu1165=) rs977841147 0.00001
NM_033305.3(VPS13A):c.3546G>A (p.Leu1182=) rs756456979 0.00001
NM_033305.3(VPS13A):c.3567A>G (p.Ala1189=) rs772028765 0.00001
NM_033305.3(VPS13A):c.3648A>C (p.Pro1216=) rs1333986273 0.00001
NM_033305.3(VPS13A):c.3663G>A (p.Pro1221=) rs746940666 0.00001
NM_033305.3(VPS13A):c.3726C>G (p.Thr1242=) rs892941947 0.00001
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) rs527418139 0.00001
NM_033305.3(VPS13A):c.3813-10C>G rs1422738496 0.00001
NM_033305.3(VPS13A):c.3813-6T>C rs1057515654 0.00001
NM_033305.3(VPS13A):c.385+10A>G rs771891218 0.00001
NM_033305.3(VPS13A):c.3961-9T>C rs755425018 0.00001
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) rs781501141 0.00001
NM_033305.3(VPS13A):c.399G>A (p.Pro133=) rs1303793041 0.00001
NM_033305.3(VPS13A):c.4003T>C (p.Leu1335=) rs375759175 0.00001
NM_033305.3(VPS13A):c.4050T>C (p.Ala1350=) rs767890566 0.00001
NM_033305.3(VPS13A):c.4110A>G (p.Ser1370=) rs1347772644 0.00001
NM_033305.3(VPS13A):c.4164A>G (p.Leu1388=) rs747910000 0.00001
NM_033305.3(VPS13A):c.4209C>T (p.Leu1403=) rs1489234853 0.00001
NM_033305.3(VPS13A):c.4235C>T (p.Pro1412Leu) rs1310170835 0.00001
NM_033305.3(VPS13A):c.4242+1G>T rs754245019 0.00001
NM_033305.3(VPS13A):c.4365C>T (p.Asn1455=) rs758405641 0.00001
NM_033305.3(VPS13A):c.4398G>A (p.Lys1466=) rs768241084 0.00001
NM_033305.3(VPS13A):c.4401A>G (p.Lys1467=) rs1258730329 0.00001
NM_033305.3(VPS13A):c.4413-4C>T rs777984395 0.00001
NM_033305.3(VPS13A):c.4553C>A (p.Ala1518Glu) rs747128181 0.00001
NM_033305.3(VPS13A):c.4569G>A (p.Glu1523=) rs969408984 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.4644A>G (p.Glu1548=) rs765000090 0.00001
NM_033305.3(VPS13A):c.4710A>G (p.Thr1570=) rs1829379290 0.00001
NM_033305.3(VPS13A):c.4794T>C (p.Ala1598=) rs371356711 0.00001
NM_033305.3(VPS13A):c.4806T>C (p.Asp1602=) rs201803326 0.00001
NM_033305.3(VPS13A):c.4809C>T (p.Leu1603=) rs1191574832 0.00001
NM_033305.3(VPS13A):c.4827G>A (p.Pro1609=) rs781553853 0.00001
NM_033305.3(VPS13A):c.4863+9A>T rs749477051 0.00001
NM_033305.3(VPS13A):c.495+1G>A rs1447585760 0.00001
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=) rs767739134 0.00001
NM_033305.3(VPS13A):c.496-6C>G rs1360980576 0.00001
NM_033305.3(VPS13A):c.4969_5011del (p.Ile1657fs) rs1469144732 0.00001
NM_033305.3(VPS13A):c.5013T>G (p.Thr1671=) rs750583081 0.00001
NM_033305.3(VPS13A):c.5106A>G (p.Glu1702=) rs1222721565 0.00001
NM_033305.3(VPS13A):c.5226A>T (p.Val1742=) rs1308340529 0.00001
NM_033305.3(VPS13A):c.5307G>T (p.Glu1769Asp) rs765874351 0.00001
NM_033305.3(VPS13A):c.5340T>G (p.Gly1780=) rs745891519 0.00001
NM_033305.3(VPS13A):c.550A>G (p.Met184Val) rs1825931122 0.00001
NM_033305.3(VPS13A):c.5523A>G (p.Leu1841=) rs778617845 0.00001
NM_033305.3(VPS13A):c.5610C>T (p.Asp1870=) rs1277735397 0.00001
NM_033305.3(VPS13A):c.5775T>C (p.Asn1925=) rs772821076 0.00001
NM_033305.3(VPS13A):c.5790A>C (p.Ala1930=) rs148449443 0.00001
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059 0.00001
NM_033305.3(VPS13A):c.5880A>G (p.Gly1960=) rs1378987175 0.00001
NM_033305.3(VPS13A):c.5881C>T (p.Arg1961Ter) rs1286714220 0.00001
NM_033305.3(VPS13A):c.5889G>A (p.Leu1963=) rs1200437905 0.00001
NM_033305.3(VPS13A):c.5892C>T (p.Tyr1964=) rs1311368421 0.00001
NM_033305.3(VPS13A):c.5916C>T (p.Gly1972=) rs777794107 0.00001
NM_033305.3(VPS13A):c.5933T>A (p.Val1978Asp) rs778434080 0.00001
NM_033305.3(VPS13A):c.5978G>A (p.Arg1993His) rs769890530 0.00001
NM_033305.3(VPS13A):c.6042A>G (p.Leu2014=) rs536871527 0.00001
NM_033305.3(VPS13A):c.6096-3C>A rs753054165 0.00001
NM_033305.3(VPS13A):c.6096-9C>T rs762922309 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.616-4T>C rs1168753864 0.00001
NM_033305.3(VPS13A):c.616-8A>G rs750602609 0.00001
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
NM_033305.3(VPS13A):c.6291T>C (p.Asp2097=) rs531944097 0.00001
NM_033305.3(VPS13A):c.6339C>T (p.Leu2113=) rs1392258447 0.00001
NM_033305.3(VPS13A):c.633C>T (p.Asn211=) rs1210963659 0.00001
NM_033305.3(VPS13A):c.6366T>C (p.Ala2122=) rs762107917 0.00001
NM_033305.3(VPS13A):c.6379-10T>A rs1563938143 0.00001
NM_033305.3(VPS13A):c.6379-20T>G rs577151483 0.00001
NM_033305.3(VPS13A):c.6379-9T>C rs1563938152 0.00001
NM_033305.3(VPS13A):c.6402T>C (p.Thr2134=) rs750234482 0.00001
NM_033305.3(VPS13A):c.6459A>G (p.Leu2153=) rs1412838942 0.00001
NM_033305.3(VPS13A):c.645T>C (p.Tyr215=) rs1826072950 0.00001
NM_033305.3(VPS13A):c.64T>C (p.Leu22=) rs1360245833 0.00001
NM_033305.3(VPS13A):c.6516G>A (p.Lys2172=) rs760740203 0.00001
NM_033305.3(VPS13A):c.6711A>C (p.Pro2237=) rs1830722047 0.00001
NM_033305.3(VPS13A):c.6741T>C (p.Ser2247=) rs772517163 0.00001
NM_033305.3(VPS13A):c.6774+7G>A rs368775109 0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) rs763311249 0.00001
NM_033305.3(VPS13A):c.6789A>G (p.Val2263=) rs1322192543 0.00001
NM_033305.3(VPS13A):c.6843A>G (p.Gly2281=) rs913576765 0.00001
NM_033305.3(VPS13A):c.6879+9A>G rs1830743654 0.00001
NM_033305.3(VPS13A):c.690C>T (p.Asn230=) rs779916647 0.00001
NM_033305.3(VPS13A):c.6936C>T (p.Thr2312=) rs1413208235 0.00001
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) rs192942248 0.00001
NM_033305.3(VPS13A):c.7027-9A>G rs1831001629 0.00001
NM_033305.3(VPS13A):c.7077C>T (p.Val2359=) rs749174453 0.00001
NM_033305.3(VPS13A):c.7116C>G (p.Asn2372Lys) rs768898784 0.00001
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) rs1438436648 0.00001
NM_033305.3(VPS13A):c.7158T>G (p.Leu2386=) rs778911778 0.00001
NM_033305.3(VPS13A):c.7191G>A (p.Glu2397=) rs770178744 0.00001
NM_033305.3(VPS13A):c.7236T>C (p.Ala2412=) rs1831075290 0.00001
NM_033305.3(VPS13A):c.7288A>C (p.Ser2430Arg) rs780622922 0.00001
NM_033305.3(VPS13A):c.7290-10A>G rs777376932 0.00001
NM_033305.3(VPS13A):c.7332C>T (p.Ala2444=) rs747089927 0.00001
NM_033305.3(VPS13A):c.7420-2A>C rs1175632662 0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.755-4T>C rs201607062 0.00001
NM_033305.3(VPS13A):c.755-9A>G rs1202344449 0.00001
NM_033305.3(VPS13A):c.7620G>A (p.Thr2540=) rs201318852 0.00001
NM_033305.3(VPS13A):c.7653-2A>G rs779075858 0.00001
NM_033305.3(VPS13A):c.7662G>A (p.Val2554=) rs754752903 0.00001
NM_033305.3(VPS13A):c.7690G>A (p.Ala2564Thr) rs1002740657 0.00001
NM_033305.3(VPS13A):c.7705A>G (p.Met2569Val) rs770600544 0.00001
NM_033305.3(VPS13A):c.7755T>G (p.Thr2585=) rs761931557 0.00001
NM_033305.3(VPS13A):c.7794C>T (p.Asp2598=) rs755960851 0.00001
NM_033305.3(VPS13A):c.7795A>G (p.Thr2599Ala) rs1321712506 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.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.7971T>C (p.His2657=) rs761047477 0.00001
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) rs771004767 0.00001
NM_033305.3(VPS13A):c.8035+1G>A rs1244227519 0.00001
NM_033305.3(VPS13A):c.8106-9G>A rs1298877792 0.00001
NM_033305.3(VPS13A):c.8130A>G (p.Glu2710=) rs776080879 0.00001
NM_033305.3(VPS13A):c.819T>C (p.Ser273=) rs1005038729 0.00001
NM_033305.3(VPS13A):c.8208A>G (p.Thr2736=) rs1402671976 0.00001
NM_033305.3(VPS13A):c.822C>T (p.Ala274=) rs534232201 0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) rs780530847 0.00001
NM_033305.3(VPS13A):c.8316T>C (p.Ser2772=) rs1342558043 0.00001
NM_033305.3(VPS13A):c.8324A>T (p.Lys2775Met) rs760798467 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_033305.3(VPS13A):c.8325+9A>C rs1236410266 0.00001
NM_033305.3(VPS13A):c.8333T>C (p.Leu2778Ser) rs1216728056 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_033305.3(VPS13A):c.8400A>G (p.Pro2800=) rs1314964266 0.00001
NM_033305.3(VPS13A):c.8471+8T>C rs752456834 0.00001
NM_033305.3(VPS13A):c.8472-8T>G rs1219736649 0.00001
NM_033305.3(VPS13A):c.8478A>G (p.Ala2826=) rs760521936 0.00001
NM_033305.3(VPS13A):c.8514C>T (p.Ser2838=) rs1425890506 0.00001
NM_033305.3(VPS13A):c.8526T>C (p.Ser2842=) rs1348232788 0.00001
NM_033305.3(VPS13A):c.8667+7T>C rs772455203 0.00001
NM_033305.3(VPS13A):c.8668-7C>T rs1271438682 0.00001
NM_033305.3(VPS13A):c.8703A>C (p.Gly2901=) rs201871765 0.00001
NM_033305.3(VPS13A):c.8715A>G (p.Gly2905=) rs1832678783 0.00001
NM_033305.3(VPS13A):c.8724A>C (p.Ala2908=) rs765821271 0.00001
NM_033305.3(VPS13A):c.8796A>C (p.Val2932=) rs1483230548 0.00001
NM_033305.3(VPS13A):c.8907+2T>A rs1479800564 0.00001
NM_033305.3(VPS13A):c.8931A>C (p.Gly2977=) rs1367461132 0.00001
NM_033305.3(VPS13A):c.8954-5T>C rs373399887 0.00001
NM_033305.3(VPS13A):c.8954-8C>A rs761958835 0.00001
NM_033305.3(VPS13A):c.9009A>C (p.Val3003=) rs201865799 0.00001
NM_033305.3(VPS13A):c.9028A>G (p.Thr3010Ala) rs759236506 0.00001
NM_033305.3(VPS13A):c.9077+8C>T rs1325690140 0.00001
NM_033305.3(VPS13A):c.9148C>T (p.Pro3050Ser) rs1227181918 0.00001
NM_033305.3(VPS13A):c.9153C>T (p.Tyr3051=) rs746787697 0.00001
NM_033305.3(VPS13A):c.9189+10G>A rs920041947 0.00001
NM_033305.3(VPS13A):c.9231C>G (p.Thr3077=) rs1384539437 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.9400-8G>A rs964952072 0.00001
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) rs148173878 0.00001
NM_033305.3(VPS13A):c.9441A>G (p.Lys3147=) rs1471538963 0.00001
NM_033305.3(VPS13A):c.945G>A (p.Arg315=) rs1302687992 0.00001
NM_033305.3(VPS13A):c.9462A>G (p.Pro3154=) rs1333089584 0.00001
NM_033305.3(VPS13A):c.9468T>C (p.Asp3156=) rs1210856876 0.00001
NM_033305.3(VPS13A):c.9483C>G (p.Leu3161=) rs1457296388 0.00001
NM_033305.3(VPS13A):c.9501A>T (p.Ala3167=) rs896250515 0.00001
NM_033305.3(VPS13A):c.9513T>C (p.Ser3171=) rs756208570 0.00001
NM_033305.3(VPS13A):c.9516G>A (p.Pro3172=) rs370565019 0.00001
NM_033305.3(VPS13A):c.989+21T>C rs370802517 0.00001
NM_033305.3(VPS13A):c.989+8C>G rs763735978 0.00001
NM_033305.3(VPS13A):c.9C>T (p.Phe3=) rs1823718940 0.00001
GRCh37/hg19 9q21.2(chr9:79706373-79971001)x3
GRCh37/hg19 9q21.2(chr9:79913779-79961377)x3
GRCh37/hg19 9q21.2(chr9:79939063-80037901)x1
NC_000009.11:g.(?_79792611)_(79792730_?)del
NC_000009.11:g.(?_79792611)_(80030932_?)del
NC_000009.11:g.(?_79814841)_(79867288_?)del
NC_000009.11:g.(?_79814841)_(79975577_?)dup
NC_000009.11:g.(?_79814851)_(79843190_?)dup
NC_000009.11:g.(?_79825585)_(79832643_?)del
NC_000009.11:g.(?_79834850)_(79835319_?)del
NC_000009.11:g.(?_79851768)_79854605del
NC_000009.11:g.(?_79862155)_(79862331_?)del
NC_000009.11:g.(?_79894819)_(79896407_?)del
NC_000009.11:g.(?_79928888)_(79938163_?)dup
NC_000009.11:g.(?_79928888)_(80020923_?)del
NC_000009.11:g.(?_79928888)_(80022543_?)dup
NC_000009.11:g.(?_79936065)_(80030922_?)del
NC_000009.11:g.(?_79952161)_(79959207_?)del
NC_000009.11:g.(?_79959049)_(79975577_?)del
NC_000009.11:g.(?_79959059)_(79960068_?)del
NC_000009.11:g.(?_79966213)_(80030922_?)del
NC_000009.11:g.(?_79968430)_(79969529_?)del
NC_000009.11:g.(?_79974229)_(79986085_?)del
NC_000009.11:g.(?_79982961)_(79999609_?)del
NC_000009.11:g.(?_79996872)_(80022543_?)del
NC_000009.11:g.(?_79996872)_(80030922_?)del
NC_000009.11:g.(?_80018142)_(80018247_?)dup
NC_000009.11:g.(?_80018142)_(80030932_?)del
NC_000009.11:g.(?_80020770)_(80022533_?)dup
NC_000009.11:g.(?_80030862)_(80030932_?)dup
NC_000009.12:g.(?_77209413)_(77276231_?)del
NC_000009.12:g.(?_77212959)_(77213324_?)del
NC_000009.12:g.(?_77250087)_(77252362_?)del
NC_000009.12:g.(?_77280149)_(77295856_?)del
NC_000009.12:g.77337257_77337282del rs1174858706
NC_000009.12:g.77345010_77345025del
NM_033305.3(VPS13A):c.*274AGA[1] rs147672353
NM_033305.3(VPS13A):c.100+16C>T
NM_033305.3(VPS13A):c.100+20C>T
NM_033305.3(VPS13A):c.100+225G>A rs114803328
NM_033305.3(VPS13A):c.100+8G>C rs2131030358
NM_033305.3(VPS13A):c.100+9G>C
NM_033305.3(VPS13A):c.100+9GCC[5] rs772386985
NM_033305.3(VPS13A):c.100+9GCC[6] rs772386985
NM_033305.3(VPS13A):c.1005A>C (p.Ile335=) rs1564640978
NM_033305.3(VPS13A):c.1006C>T (p.His336Tyr)
NM_033305.3(VPS13A):c.1007A>G (p.His336Arg)
NM_033305.3(VPS13A):c.101-13T>A
NM_033305.3(VPS13A):c.101-13T>C
NM_033305.3(VPS13A):c.101-13del
NM_033305.3(VPS13A):c.101-175_101-174del rs36096139
NM_033305.3(VPS13A):c.101-17T>G
NM_033305.3(VPS13A):c.101-3dup rs752636187
NM_033305.3(VPS13A):c.101-4T>C
NM_033305.3(VPS13A):c.101-6T>G
NM_033305.3(VPS13A):c.1012G>T (p.Val338Phe)
NM_033305.3(VPS13A):c.1023A>C (p.Val341=)
NM_033305.3(VPS13A):c.1032C>A (p.Cys344Ter) rs2131179725
NM_033305.3(VPS13A):c.1036A>C (p.Arg346=) rs1412096065
NM_033305.3(VPS13A):c.1036A>G (p.Arg346Gly)
NM_033305.3(VPS13A):c.1049G>A (p.Trp350Ter)
NM_033305.3(VPS13A):c.1052C>A (p.Ser351Ter)
NM_033305.3(VPS13A):c.1075A>T (p.Arg359Trp)
NM_033305.3(VPS13A):c.1078C>T (p.Gln360Ter)
NM_033305.3(VPS13A):c.1080A>G (p.Gln360=)
NM_033305.3(VPS13A):c.1089G>A (p.Lys363=)
NM_033305.3(VPS13A):c.1095T>C (p.Tyr365=)
NM_033305.3(VPS13A):c.1095T>G (p.Tyr365Ter) rs2131179937
NM_033305.3(VPS13A):c.1098A>G (p.Lys366=) rs758252532
NM_033305.3(VPS13A):c.1099G>T (p.Glu367Ter) rs2131179950
NM_033305.3(VPS13A):c.1108A>T (p.Lys370Ter) rs1587358566
NM_033305.3(VPS13A):c.1115del (p.Lys372fs)
NM_033305.3(VPS13A):c.1115dup (p.Leu373fs)
NM_033305.3(VPS13A):c.1119A>G (p.Leu373=)
NM_033305.3(VPS13A):c.1125_1128del (p.Ser375fs) rs748999076
NM_033305.3(VPS13A):c.1128G>A (p.Lys376=)
NM_033305.3(VPS13A):c.1132C>T (p.Pro378Ser)
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=) rs556865512
NM_033305.3(VPS13A):c.1149C>G (p.Leu383=) rs1823201268
NM_033305.3(VPS13A):c.1149C>T (p.Leu383=) rs1823201268
NM_033305.3(VPS13A):c.114C>T (p.Leu38=) rs1825228652
NM_033305.3(VPS13A):c.1152G>T (p.Val384=) rs2131180191
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) rs774931205
NM_033305.3(VPS13A):c.1161+10dup
NM_033305.3(VPS13A):c.1161+134G>A rs7040714
NM_033305.3(VPS13A):c.1161+14A>G
NM_033305.3(VPS13A):c.1161+1G>T
NM_033305.3(VPS13A):c.1161+8T>C
NM_033305.3(VPS13A):c.1162-11A>T
NM_033305.3(VPS13A):c.1162-12T>C
NM_033305.3(VPS13A):c.1162-14T>A
NM_033305.3(VPS13A):c.1162-15G>A
NM_033305.3(VPS13A):c.1162-4dup
NM_033305.3(VPS13A):c.1162-7T>C
NM_033305.3(VPS13A):c.1162-9A>G rs1316475987
NM_033305.3(VPS13A):c.1162G>T (p.Glu388Ter) rs2131193680
NM_033305.3(VPS13A):c.1170A>G (p.Glu390=) rs2131193735
NM_033305.3(VPS13A):c.1176C>G (p.Thr392=) rs2131193762
NM_033305.3(VPS13A):c.1176C>T (p.Thr392=)
NM_033305.3(VPS13A):c.1185C>T (p.Val395=) rs1564644998
NM_033305.3(VPS13A):c.1211C>T (p.Thr404Met)
NM_033305.3(VPS13A):c.1215A>G (p.Ala405=)
NM_033305.3(VPS13A):c.1224+16T>C
NM_033305.3(VPS13A):c.1224+184A>G rs139176730
NM_033305.3(VPS13A):c.1224+8T>C
NM_033305.3(VPS13A):c.1225-11A>T
NM_033305.3(VPS13A):c.1225-18A>C
NM_033305.3(VPS13A):c.1225-6T>C
NM_033305.3(VPS13A):c.1225-7A>G
NM_033305.3(VPS13A):c.1225-9T>C rs2131195362
NM_033305.3(VPS13A):c.1230G>A (p.Lys410=) rs1451055927
NM_033305.3(VPS13A):c.1236T>C (p.Ala412=) rs2131195418
NM_033305.3(VPS13A):c.1257A>G (p.Glu419=) rs142854769
NM_033305.3(VPS13A):c.1272A>G (p.Pro424=)
NM_033305.3(VPS13A):c.1275G>T (p.Glu425Asp)
NM_033305.3(VPS13A):c.1290G>A (p.Trp430Ter) rs1238782647
NM_033305.3(VPS13A):c.1296C>T (p.Ser432=) rs1823527711
NM_033305.3(VPS13A):c.12G>A (p.Glu4=)
NM_033305.3(VPS13A):c.1300C>T (p.Leu434=)
NM_033305.3(VPS13A):c.1304_1313del (p.Leu434_Trp435insTer) rs2131195627
NM_033305.3(VPS13A):c.1305del (p.Trp435fs) rs1564645568
NM_033305.3(VPS13A):c.1313C>G (p.Ser438Ter) rs2131195653
NM_033305.3(VPS13A):c.1320A>G (p.Gln440=) rs1404772205
NM_033305.3(VPS13A):c.1321_1322del (p.Asn441fs) rs2131195691
NM_033305.3(VPS13A):c.1325C>T (p.Thr442Ile) rs2131195757
NM_033305.3(VPS13A):c.132A>G (p.Lys44=)
NM_033305.3(VPS13A):c.1330G>C (p.Glu444Gln)
NM_033305.3(VPS13A):c.1335G>A (p.Gln445=)
NM_033305.3(VPS13A):c.1341A>G (p.Pro447=)
NM_033305.3(VPS13A):c.1342G>C (p.Asp448His)
NM_033305.3(VPS13A):c.1357+20C>T
NM_033305.3(VPS13A):c.1357+8C>A
NM_033305.3(VPS13A):c.1357+8_1357+9dup
NM_033305.3(VPS13A):c.1358-16T>G
NM_033305.3(VPS13A):c.1358-19A>G
NM_033305.3(VPS13A):c.1358-45A>C rs116915082
NM_033305.3(VPS13A):c.1358-7T>C rs2131198092
NM_033305.3(VPS13A):c.1359T>C (p.Thr453=) rs2131198111
NM_033305.3(VPS13A):c.135_139del (p.Glu45fs)
NM_033305.3(VPS13A):c.1380T>G (p.Pro460=) rs750046579
NM_033305.3(VPS13A):c.1392T>C (p.Ala464=) rs2131198187
NM_033305.3(VPS13A):c.1395A>G (p.Leu465=) rs2131198195
NM_033305.3(VPS13A):c.1396_1400del (p.Leu465_Leu466insTer)
NM_033305.3(VPS13A):c.1400_1401del (p.Leu466_Tyr467insTer) rs1823578716
NM_033305.3(VPS13A):c.1404A>G (p.Glu468=) rs1458871797
NM_033305.3(VPS13A):c.1407A>G (p.Ala469=)
NM_033305.3(VPS13A):c.1410T>C (p.Ile470=) rs2131198266
NM_033305.3(VPS13A):c.1416T>C (p.Tyr472=) rs2131198287
NM_033305.3(VPS13A):c.141C>A (p.Ala47=)
NM_033305.3(VPS13A):c.142C>T (p.Leu48=)
NM_033305.3(VPS13A):c.1437A>T (p.Pro479=)
NM_033305.3(VPS13A):c.1438A>G (p.Thr480Ala)
NM_033305.3(VPS13A):c.144+10G>C rs2131103471
NM_033305.3(VPS13A):c.144+10G>T
NM_033305.3(VPS13A):c.144+14A>C
NM_033305.3(VPS13A):c.144+3A>G rs2131103455
NM_033305.3(VPS13A):c.1444C>T (p.Leu482=)
NM_033305.3(VPS13A):c.145-13A>T
NM_033305.3(VPS13A):c.145-14A>C
NM_033305.3(VPS13A):c.145-19A>G
NM_033305.3(VPS13A):c.145-2A>T rs1447002141
NM_033305.3(VPS13A):c.145-4G>C
NM_033305.3(VPS13A):c.145-4G>T
NM_033305.3(VPS13A):c.145-7dup
NM_033305.3(VPS13A):c.1452+13C>A
NM_033305.3(VPS13A):c.1452+13C>T
NM_033305.3(VPS13A):c.1452+14T>C
NM_033305.3(VPS13A):c.1452+17C>A
NM_033305.3(VPS13A):c.1452+229dup rs57093981
NM_033305.3(VPS13A):c.1452+7T>C rs2131198387
NM_033305.3(VPS13A):c.1452+8G>A rs774700890
NM_033305.3(VPS13A):c.1452+8G>C rs774700890
NM_033305.3(VPS13A):c.1453-13G>A
NM_033305.3(VPS13A):c.1453-14T>G
NM_033305.3(VPS13A):c.1453-18C>A
NM_033305.3(VPS13A):c.1453-203dup rs138653344
NM_033305.3(VPS13A):c.1453-6C>A
NM_033305.3(VPS13A):c.1453-6C>T
NM_033305.3(VPS13A):c.1453-9A>T rs1823625607
NM_033305.3(VPS13A):c.1458A>G (p.Glu486=)
NM_033305.3(VPS13A):c.1476C>A (p.Val492=) rs778941417
NM_033305.3(VPS13A):c.1478A>G (p.His493Arg)
NM_033305.3(VPS13A):c.1479C>T (p.His493=) rs1319860231
NM_033305.3(VPS13A):c.1488T>C (p.Ser496=)
NM_033305.3(VPS13A):c.1497T>C (p.Ile499=)
NM_033305.3(VPS13A):c.1498G>T (p.Val500Phe) rs776549674
NM_033305.3(VPS13A):c.150A>G (p.Gln50=)
NM_033305.3(VPS13A):c.1523C>T (p.Pro508Leu)
NM_033305.3(VPS13A):c.1524T>A (p.Pro508=)
NM_033305.3(VPS13A):c.1524T>G (p.Pro508=)
NM_033305.3(VPS13A):c.1528dup (p.Leu510fs)
NM_033305.3(VPS13A):c.1538T>C (p.Ile513Thr)
NM_033305.3(VPS13A):c.1542A>C (p.Val514=)
NM_033305.3(VPS13A):c.1542A>G (p.Val514=) rs2131200849
NM_033305.3(VPS13A):c.1551A>G (p.Glu517=) rs764494351
NM_033305.3(VPS13A):c.1554T>C (p.Phe518=)
NM_033305.3(VPS13A):c.1556G>C (p.Ser519Thr)
NM_033305.3(VPS13A):c.1557C>T (p.Ser519=) rs2131200919
NM_033305.3(VPS13A):c.1562T>G (p.Leu521Ter)
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=) rs757215593
NM_033305.3(VPS13A):c.1584A>G (p.Ala528=) rs2131201012
NM_033305.3(VPS13A):c.1584A>T (p.Ala528=)
NM_033305.3(VPS13A):c.1595+10A>T
NM_033305.3(VPS13A):c.1595+10_1595+13del
NM_033305.3(VPS13A):c.1595+143dup rs142884554
NM_033305.3(VPS13A):c.1595+16T>G
NM_033305.3(VPS13A):c.1595+24del
NM_033305.3(VPS13A):c.1595+24dup
NM_033305.3(VPS13A):c.1595+7A>G rs1346322364
NM_033305.3(VPS13A):c.1595+8T>A rs746034684
NM_033305.3(VPS13A):c.1596-10_1596-8del rs748907586
NM_033305.3(VPS13A):c.1596-11T>C
NM_033305.3(VPS13A):c.1596-16T>A
NM_033305.3(VPS13A):c.1596-18_1596-14del
NM_033305.3(VPS13A):c.1596-1G>C
NM_033305.3(VPS13A):c.1596-2A>G rs2131230395
NM_033305.3(VPS13A):c.1596-4G>T rs1587392866
NM_033305.3(VPS13A):c.1596-6A>T rs1587392849
NM_033305.3(VPS13A):c.1596-6del
NM_033305.3(VPS13A):c.1596-6dup rs747677553
NM_033305.3(VPS13A):c.1596-8del
NM_033305.3(VPS13A):c.1596-8dup 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.1617A>T (p.Ser539=) rs780368971
NM_033305.3(VPS13A):c.1627A>C (p.Thr543Pro)
NM_033305.3(VPS13A):c.162A>G (p.Pro54=) rs2131108163
NM_033305.3(VPS13A):c.1656C>T (p.Pro552=)
NM_033305.3(VPS13A):c.1658G>A (p.Arg553His)
NM_033305.3(VPS13A):c.165del (p.Phe55fs)
NM_033305.3(VPS13A):c.1663C>T (p.Leu555=) rs2131230619
NM_033305.3(VPS13A):c.1668T>C (p.Ser556=) rs2131230642
NM_033305.3(VPS13A):c.1671A>C (p.Ser557=)
NM_033305.3(VPS13A):c.1672T>C (p.Leu558=)
NM_033305.3(VPS13A):c.1683A>C (p.Ala561=)
NM_033305.3(VPS13A):c.1683A>T (p.Ala561=)
NM_033305.3(VPS13A):c.1687T>C (p.Ser563Pro)
NM_033305.3(VPS13A):c.1704A>G (p.Thr568=) rs541499452
NM_033305.3(VPS13A):c.1704A>T (p.Thr568=) rs541499452
NM_033305.3(VPS13A):c.1710G>A (p.Glu570=)
NM_033305.3(VPS13A):c.172A>C (p.Lys58Gln)
NM_033305.3(VPS13A):c.1731T>C (p.Thr577=)
NM_033305.3(VPS13A):c.1741A>C (p.Arg581=)
NM_033305.3(VPS13A):c.1749C>T (p.Ile583=) rs2131230847
NM_033305.3(VPS13A):c.174A>G (p.Lys58=)
NM_033305.3(VPS13A):c.1755A>G (p.Glu585=)
NM_033305.3(VPS13A):c.1764T>C (p.Pro588=)
NM_033305.3(VPS13A):c.1776A>G (p.Ile592Met)
NM_033305.3(VPS13A):c.1782T>C (p.Asp594=) rs955568508
NM_033305.3(VPS13A):c.1785+12T>C
NM_033305.3(VPS13A):c.1785+13T>A
NM_033305.3(VPS13A):c.1785+13T>C
NM_033305.3(VPS13A):c.1785+14T>A rs2131231044
NM_033305.3(VPS13A):c.1785+14del
NM_033305.3(VPS13A):c.1785+15A>T
NM_033305.3(VPS13A):c.1785+16A>C
NM_033305.3(VPS13A):c.1785+16A>G rs1016268713
NM_033305.3(VPS13A):c.1785+17A>G
NM_033305.3(VPS13A):c.1785+9T>G
NM_033305.3(VPS13A):c.1786-11T>C
NM_033305.3(VPS13A):c.1786-14G>A
NM_033305.3(VPS13A):c.1791A>C (p.Thr597=) rs148739733
NM_033305.3(VPS13A):c.1795A>G (p.Asn599Asp)
NM_033305.3(VPS13A):c.1797_1798dup (p.Ser600fs)
NM_033305.3(VPS13A):c.1807G>T (p.Glu603Ter)
NM_033305.3(VPS13A):c.1818A>G (p.Arg606=)
NM_033305.3(VPS13A):c.1829A>T (p.Glu610Val)
NM_033305.3(VPS13A):c.1830G>A (p.Glu610=) rs113804310
NM_033305.3(VPS13A):c.1837C>T (p.Leu613=)
NM_033305.3(VPS13A):c.1842A>G (p.Ala614=)
NM_033305.3(VPS13A):c.1869del (p.Lys623fs) rs2131231475
NM_033305.3(VPS13A):c.187+14A>G
NM_033305.3(VPS13A):c.187+16T>C
NM_033305.3(VPS13A):c.187+19del
NM_033305.3(VPS13A):c.187+1dup
NM_033305.3(VPS13A):c.187+9T>C
NM_033305.3(VPS13A):c.1875A>G (p.Glu625=) rs2131231483
NM_033305.3(VPS13A):c.1878A>G (p.Glu626=)
NM_033305.3(VPS13A):c.188-12A>C
NM_033305.3(VPS13A):c.188-13C>G
NM_033305.3(VPS13A):c.188-13dup
NM_033305.3(VPS13A):c.188-14C>T
NM_033305.3(VPS13A):c.188-4G>T
NM_033305.3(VPS13A):c.188-5T>C
NM_033305.3(VPS13A):c.188-6dup
NM_033305.3(VPS13A):c.188-7A>T
NM_033305.3(VPS13A):c.1881dup (p.Arg628fs) rs2131231500
NM_033305.3(VPS13A):c.1882C>T (p.Arg628Cys)
NM_033305.3(VPS13A):c.1883G>A (p.Arg628His) rs765358211
NM_033305.3(VPS13A):c.1884C>T (p.Arg628=) rs2131231540
NM_033305.3(VPS13A):c.1886G>C (p.Ser629Thr)
NM_033305.3(VPS13A):c.1893A>C (p.Thr631=)
NM_033305.3(VPS13A):c.1896A>C (p.Ala632=)
NM_033305.3(VPS13A):c.1897A>G (p.Thr633Ala)
NM_033305.3(VPS13A):c.1900+11A>G
NM_033305.3(VPS13A):c.1900+13A>G
NM_033305.3(VPS13A):c.1900+16A>G
NM_033305.3(VPS13A):c.1900+17A>G
NM_033305.3(VPS13A):c.1900+18T>C
NM_033305.3(VPS13A):c.1900+9C>G
NM_033305.3(VPS13A):c.1900+9C>T rs773690202
NM_033305.3(VPS13A):c.1901-10A>G rs2131259536
NM_033305.3(VPS13A):c.1901-10A>T
NM_033305.3(VPS13A):c.1901-11C>T
NM_033305.3(VPS13A):c.1901-12A>C
NM_033305.3(VPS13A):c.1901-17G>T
NM_033305.3(VPS13A):c.1901-19A>G
NM_033305.3(VPS13A):c.1903C>T (p.Leu635=) rs2131259559
NM_033305.3(VPS13A):c.1923A>G (p.Thr641=)
NM_033305.3(VPS13A):c.1938T>C (p.Asp646=) rs2131259638
NM_033305.3(VPS13A):c.1958C>T (p.Ala653Val)
NM_033305.3(VPS13A):c.1962A>G (p.Ser654=)
NM_033305.3(VPS13A):c.1966A>G (p.Ile656Val)
NM_033305.3(VPS13A):c.196A>G (p.Lys66Glu)
NM_033305.3(VPS13A):c.1974C>T (p.Val658=) rs1587412408
NM_033305.3(VPS13A):c.1978C>T (p.Gln660Ter)
NM_033305.3(VPS13A):c.1994G>T (p.Ser665Ile)
NM_033305.3(VPS13A):c.2008C>T (p.Leu670=)
NM_033305.3(VPS13A):c.2010G>A (p.Leu670=)
NM_033305.3(VPS13A):c.2010G>T (p.Leu670=)
NM_033305.3(VPS13A):c.2013T>C (p.Leu671=)
NM_033305.3(VPS13A):c.2013T>G (p.Leu671=) rs2131259796
NM_033305.3(VPS13A):c.2016T>C (p.Leu672=) rs1159441741
NM_033305.3(VPS13A):c.2017T>C (p.Leu673=)
NM_033305.3(VPS13A):c.2021A>G (p.Asp674Gly)
NM_033305.3(VPS13A):c.2029C>T (p.His677Tyr)
NM_033305.3(VPS13A):c.2037+11A>G
NM_033305.3(VPS13A):c.2037+14_2037+16del
NM_033305.3(VPS13A):c.2037+15T>G
NM_033305.3(VPS13A):c.2037+17T>C
NM_033305.3(VPS13A):c.2037+18T>G
NM_033305.3(VPS13A):c.2037+191T>C rs10115162
NM_033305.3(VPS13A):c.2037+1G>A
NM_033305.3(VPS13A):c.2037+7A>C
NM_033305.3(VPS13A):c.2037+7A>G rs766122974
NM_033305.3(VPS13A):c.2037+8C>G rs41289961
NM_033305.3(VPS13A):c.2037+8C>T
NM_033305.3(VPS13A):c.2037+9del rs2131259874
NM_033305.3(VPS13A):c.2038-18A>G
NM_033305.3(VPS13A):c.2038-1G>A
NM_033305.3(VPS13A):c.2038-4G>A rs1825070810
NM_033305.3(VPS13A):c.2038-6T>C rs2131267191
NM_033305.3(VPS13A):c.2038-7C>T rs1825070655
NM_033305.3(VPS13A):c.2042C>T (p.Thr681Met)
NM_033305.3(VPS13A):c.2043G>A (p.Thr681=) rs1375726347
NM_033305.3(VPS13A):c.2043G>C (p.Thr681=)
NM_033305.3(VPS13A):c.2051G>C (p.Ser684Thr)
NM_033305.3(VPS13A):c.2054G>T (p.Arg685Leu)
NM_033305.3(VPS13A):c.2073G>A (p.Val691=)
NM_033305.3(VPS13A):c.2090A>G (p.Asn697Ser)
NM_033305.3(VPS13A):c.2092C>A (p.Leu698Ile) rs2131267341
NM_033305.3(VPS13A):c.2096A>G (p.Lys699Arg)
NM_033305.3(VPS13A):c.209del (p.Pro70fs) rs2131122992
NM_033305.3(VPS13A):c.2102_2103del (p.Ile701fs)
NM_033305.3(VPS13A):c.210A>G (p.Pro70=) rs1335505417
NM_033305.3(VPS13A):c.2133T>C (p.Ile711=)
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) rs1389344705
NM_033305.3(VPS13A):c.2136A>G (p.Gln712=)
NM_033305.3(VPS13A):c.2139T>G (p.Leu713=) rs1587418551
NM_033305.3(VPS13A):c.2140dup (p.Thr714fs) rs2131267421
NM_033305.3(VPS13A):c.2151G>A (p.Gln717=)
NM_033305.3(VPS13A):c.2157T>A (p.Leu719=) rs2131267472
NM_033305.3(VPS13A):c.2157T>G (p.Leu719=)
NM_033305.3(VPS13A):c.2163T>C (p.Ser721=)
NM_033305.3(VPS13A):c.2170+10A>C
NM_033305.3(VPS13A):c.2170+16A>G
NM_033305.3(VPS13A):c.2170+17T>G
NM_033305.3(VPS13A):c.2171-13T>C
NM_033305.3(VPS13A):c.2171-14T>C
NM_033305.3(VPS13A):c.2171-6A>C
NM_033305.3(VPS13A):c.2171-8G>C
NM_033305.3(VPS13A):c.2171-9T>C rs2131271826
NM_033305.3(VPS13A):c.2172T>C (p.Gly724=) rs2131271847
NM_033305.3(VPS13A):c.2175T>C (p.Asp725=)
NM_033305.3(VPS13A):c.217_218del (p.Asn73fs)
NM_033305.3(VPS13A):c.218del (p.Asn73fs) rs1825576567
NM_033305.3(VPS13A):c.2190A>G (p.Ala730=) rs1564665908
NM_033305.3(VPS13A):c.2198T>C (p.Leu733Pro)
NM_033305.3(VPS13A):c.219C>T (p.Asn73=) rs1283058614
NM_033305.3(VPS13A):c.21C>G (p.Val7=)
NM_033305.3(VPS13A):c.2200dup (p.Ser734fs)
NM_033305.3(VPS13A):c.2202T>C (p.Ser734=)
NM_033305.3(VPS13A):c.2211C>A (p.Thr737=) rs2131271935
NM_033305.3(VPS13A):c.2215C>G (p.His739Asp)
NM_033305.3(VPS13A):c.2229C>G (p.Pro743=)
NM_033305.3(VPS13A):c.2230A>G (p.Met744Val)
NM_033305.3(VPS13A):c.2233C>T (p.His745Tyr) rs1825187021
NM_033305.3(VPS13A):c.223T>C (p.Tyr75His)
NM_033305.3(VPS13A):c.2242T>C (p.Leu748=) rs1587422536
NM_033305.3(VPS13A):c.2250G>A (p.Leu750=)
NM_033305.3(VPS13A):c.2250_2253del (p.Ser751fs)
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033305.3(VPS13A):c.2253T>G (p.Ser751=) rs937699726
NM_033305.3(VPS13A):c.2259C>A (p.Ala753=)
NM_033305.3(VPS13A):c.2268C>A (p.Phe756Leu)
NM_033305.3(VPS13A):c.2276T>C (p.Val759Ala)
NM_033305.3(VPS13A):c.2286C>G (p.Pro762=)
NM_033305.3(VPS13A):c.2286C>T (p.Pro762=) rs1056122983
NM_033305.3(VPS13A):c.2287A>G (p.Lys763Glu) rs2131272146
NM_033305.3(VPS13A):c.2288+10G>C
NM_033305.3(VPS13A):c.2288+14G>T
NM_033305.3(VPS13A):c.2288+17T>C
NM_033305.3(VPS13A):c.2288+8_2288+9del rs2131272186
NM_033305.3(VPS13A):c.2288+9T>C
NM_033305.3(VPS13A):c.2288A>G (p.Lys763Arg) rs749375820
NM_033305.3(VPS13A):c.2289-14T>C
NM_033305.3(VPS13A):c.2289-15A>C
NM_033305.3(VPS13A):c.2289-15A>G
NM_033305.3(VPS13A):c.2289-16del
NM_033305.3(VPS13A):c.2289-19T>C
NM_033305.3(VPS13A):c.2289-20T>C
NM_033305.3(VPS13A):c.2289-239A>G rs115452603
NM_033305.3(VPS13A):c.2289-4del
NM_033305.3(VPS13A):c.2289-8C>G
NM_033305.3(VPS13A):c.2295G>A (p.Lys765=) rs1587439892
NM_033305.3(VPS13A):c.2308T>C (p.Leu770=)
NM_033305.3(VPS13A):c.2312C>T (p.Pro771Leu) rs753944590
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) rs1417246536
NM_033305.3(VPS13A):c.2336dup (p.Asp779fs) rs2131293113
NM_033305.3(VPS13A):c.2337T>A (p.Asp779Glu)
NM_033305.3(VPS13A):c.2343del (p.Lys781fs)
NM_033305.3(VPS13A):c.2343dup (p.Leu782fs)
NM_033305.3(VPS13A):c.2346A>G (p.Leu782=)
NM_033305.3(VPS13A):c.234T>C (p.Pro78=)
NM_033305.3(VPS13A):c.2362T>C (p.Leu788=) rs748738775
NM_033305.3(VPS13A):c.2382A>T (p.Lys794Asn)
NM_033305.3(VPS13A):c.2392G>C (p.Val798Leu)
NM_033305.3(VPS13A):c.2394A>G (p.Val798=)
NM_033305.3(VPS13A):c.2397T>C (p.Thr799=) rs2131293258
NM_033305.3(VPS13A):c.2399A>C (p.Glu800Ala)
NM_033305.3(VPS13A):c.2403A>G (p.Val801=)
NM_033305.3(VPS13A):c.2405del (p.Ser802fs) rs2131293274
NM_033305.3(VPS13A):c.2406T>G (p.Ser802=) rs2131293283
NM_033305.3(VPS13A):c.2412T>C (p.Pro804=) rs2131293314
NM_033305.3(VPS13A):c.2412del (p.Val805fs) rs2131293320
NM_033305.3(VPS13A):c.2416A>G (p.Lys806Glu)
NM_033305.3(VPS13A):c.2427+144_2427+150del rs750675055
NM_033305.3(VPS13A):c.2427+150del rs750675055
NM_033305.3(VPS13A):c.2427+150dup rs750675055
NM_033305.3(VPS13A):c.2427+1G>A rs1327100271
NM_033305.3(VPS13A):c.2427+20T>C
NM_033305.3(VPS13A):c.2427+4A>T
NM_033305.3(VPS13A):c.2428-14T>A
NM_033305.3(VPS13A):c.2428-16A>G
NM_033305.3(VPS13A):c.2428-181A>G rs72744218
NM_033305.3(VPS13A):c.2428-20T>A
NM_033305.3(VPS13A):c.2428-6T>C rs2131325263
NM_033305.3(VPS13A):c.2428-7_2428-6dup
NM_033305.3(VPS13A):c.2428-8T>G
NM_033305.3(VPS13A):c.2429T>C (p.Ile810Thr)
NM_033305.3(VPS13A):c.2436A>T (p.Thr812=) rs2131325288
NM_033305.3(VPS13A):c.2446T>C (p.Leu816=)
NM_033305.3(VPS13A):c.2456C>G (p.Ser819Ter) rs762390488
NM_033305.3(VPS13A):c.2457A>G (p.Ser819=) rs2131325353
NM_033305.3(VPS13A):c.2458_2462del (p.Gln820fs)
NM_033305.3(VPS13A):c.246A>G (p.Val82=) rs2131123180
NM_033305.3(VPS13A):c.2481T>C (p.Pro827=) rs1264281501
NM_033305.3(VPS13A):c.2484_2485del (p.Leu829fs) rs1826458502
NM_033305.3(VPS13A):c.2490A>G (p.Glu830=)
NM_033305.3(VPS13A):c.2496A>G (p.Pro832=) rs148754839
NM_033305.3(VPS13A):c.2500G>A (p.Val834Ile)
NM_033305.3(VPS13A):c.2500G>C (p.Val834Leu) rs201567434
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.2512+10A>T rs2131325531
NM_033305.3(VPS13A):c.2512+15C>T
NM_033305.3(VPS13A):c.2512+2T>C rs2131325491
NM_033305.3(VPS13A):c.2512+7T>A rs1826461999
NM_033305.3(VPS13A):c.2512+8G>T rs1826462265
NM_033305.3(VPS13A):c.2512+9A>G rs2131325523
NM_033305.3(VPS13A):c.2513-12T>C
NM_033305.3(VPS13A):c.2513-17T>C
NM_033305.3(VPS13A):c.2513-2A>T rs1037030970
NM_033305.3(VPS13A):c.2513-3T>G
NM_033305.3(VPS13A):c.2513-4G>A
NM_033305.3(VPS13A):c.2513-63A>G rs145437243
NM_033305.3(VPS13A):c.2513-7A>C
NM_033305.3(VPS13A):c.2513-8A>G rs2131330698
NM_033305.3(VPS13A):c.2516C>A (p.Ser839Ter)
NM_033305.3(VPS13A):c.2544T>C (p.Cys848=)
NM_033305.3(VPS13A):c.2550C>G (p.Pro850=) rs1826604870
NM_033305.3(VPS13A):c.2550C>T (p.Pro850=) rs1826604870
NM_033305.3(VPS13A):c.2574A>G (p.Pro858=)
NM_033305.3(VPS13A):c.2590A>G (p.Ile864Val)
NM_033305.3(VPS13A):c.2593C>A (p.Arg865=) rs766404788
NM_033305.3(VPS13A):c.2593C>T (p.Arg865Ter) rs766404788
NM_033305.3(VPS13A):c.2598C>G (p.Thr866=)
NM_033305.3(VPS13A):c.2598C>T (p.Thr866=) rs2131330892
NM_033305.3(VPS13A):c.2607_2615del (p.Gln870_Gln872del)
NM_033305.3(VPS13A):c.2607_2616delinsC (p.Leu869_Gln872delinsPhe)
NM_033305.3(VPS13A):c.2610A>G (p.Gln870=) rs369381678
NM_033305.3(VPS13A):c.261_264del (p.Leu88_Leu89insTer) rs1589994032
NM_033305.3(VPS13A):c.2624C>G (p.Ser875Ter)
NM_033305.3(VPS13A):c.2628A>C (p.Val876=)
NM_033305.3(VPS13A):c.2631T>C (p.Asn877=)
NM_033305.3(VPS13A):c.2637T>C (p.Thr879=) rs978622332
NM_033305.3(VPS13A):c.263del (p.Leu88fs) rs2131123226
NM_033305.3(VPS13A):c.2640A>G (p.Thr880=) rs746571518
NM_033305.3(VPS13A):c.2664A>G (p.Pro888=)
NM_033305.3(VPS13A):c.2667+13G>T
NM_033305.3(VPS13A):c.2667+14T>C
NM_033305.3(VPS13A):c.2667+158_2667+159insT rs202033641
NM_033305.3(VPS13A):c.2667+169dup rs368058162
NM_033305.3(VPS13A):c.2667+16A>G
NM_033305.3(VPS13A):c.2667+1G>T rs2131331144
NM_033305.3(VPS13A):c.2668-12T>C
NM_033305.3(VPS13A):c.2668-14T>C
NM_033305.3(VPS13A):c.2668-15T>C
NM_033305.3(VPS13A):c.2668-20C>A
NM_033305.3(VPS13A):c.2668-2A>G rs2131332247
NM_033305.3(VPS13A):c.2679G>A (p.Glu893=)
NM_033305.3(VPS13A):c.2688C>T (p.His896=)
NM_033305.3(VPS13A):c.2698G>T (p.Asp900Tyr)
NM_033305.3(VPS13A):c.26A>G (p.Asp9Gly)
NM_033305.3(VPS13A):c.2701del (p.Cys901fs) rs1554879059
NM_033305.3(VPS13A):c.2706A>T (p.Glu902Asp)
NM_033305.3(VPS13A):c.2707C>T (p.Leu903=)
NM_033305.3(VPS13A):c.2709A>G (p.Leu903=) rs1256989711
NM_033305.3(VPS13A):c.2716del (p.Val905_Val906insTer) rs1185750493
NM_033305.3(VPS13A):c.2721A>G (p.Glu907=) rs2131332430
NM_033305.3(VPS13A):c.2727T>A (p.Leu909=) rs2131332452
NM_033305.3(VPS13A):c.2733A>G (p.Leu911=) rs949813058
NM_033305.3(VPS13A):c.2736A>G (p.Gly912=)
NM_033305.3(VPS13A):c.2739G>A (p.Leu913=) rs2131332512
NM_033305.3(VPS13A):c.2741del (p.Gly914fs) rs2131332519
NM_033305.3(VPS13A):c.2747A>C (p.Glu916Ala)
NM_033305.3(VPS13A):c.2757del (p.Arg920fs)
NM_033305.3(VPS13A):c.2765dup (p.Tyr922Ter) rs762247401
NM_033305.3(VPS13A):c.2767G>A (p.Asp923Asn)
NM_033305.3(VPS13A):c.2769T>C (p.Asp923=) rs999828125
NM_033305.3(VPS13A):c.2778A>G (p.Ala926=)
NM_033305.3(VPS13A):c.2779A>G (p.Asn927Asp) rs2131332649
NM_033305.3(VPS13A):c.2784C>T (p.Ala928=)
NM_033305.3(VPS13A):c.2789dup (p.Leu930fs)
NM_033305.3(VPS13A):c.2811C>T (p.Cys937=) rs370173107
NM_033305.3(VPS13A):c.2821T>C (p.Leu941=) rs2131332717
NM_033305.3(VPS13A):c.2823G>A (p.Leu941=)
NM_033305.3(VPS13A):c.2824+11C>G
NM_033305.3(VPS13A):c.2824+13A>G
NM_033305.3(VPS13A):c.2824+19T>A
NM_033305.3(VPS13A):c.2824+1G>A
NM_033305.3(VPS13A):c.2824+20A>T
NM_033305.3(VPS13A):c.2824+7A>C
NM_033305.3(VPS13A):c.2824+7A>T
NM_033305.3(VPS13A):c.2825-17T>A
NM_033305.3(VPS13A):c.2825-20T>G
NM_033305.3(VPS13A):c.2825A>T (p.Asp942Val)
NM_033305.3(VPS13A):c.2829A>G (p.Glu943=)
NM_033305.3(VPS13A):c.283+13T>A
NM_033305.3(VPS13A):c.283+14A>T
NM_033305.3(VPS13A):c.283+20del rs199782752
NM_033305.3(VPS13A):c.283+20dup
NM_033305.3(VPS13A):c.283+2T>G rs2131123295
NM_033305.3(VPS13A):c.283+9A>C rs2131123321
NM_033305.3(VPS13A):c.2832C>T (p.Asn944=) rs2131342454
NM_033305.3(VPS13A):c.2833A>T (p.Lys945Ter)
NM_033305.3(VPS13A):c.2835_2837del (p.Lys946del)
NM_033305.3(VPS13A):c.284-14del
NM_033305.3(VPS13A):c.284-15T>C
NM_033305.3(VPS13A):c.284-17T>C
NM_033305.3(VPS13A):c.284-18T>A
NM_033305.3(VPS13A):c.284-18T>G
NM_033305.3(VPS13A):c.284-7C>T
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) rs1826936558
NM_033305.3(VPS13A):c.2844T>G (p.Val948=) rs2131342516
NM_033305.3(VPS13A):c.2853T>G (p.Val951=)
NM_033305.3(VPS13A):c.2856A>T (p.Thr952=)
NM_033305.3(VPS13A):c.2859C>T (p.Thr953=)
NM_033305.3(VPS13A):c.285A>G (p.Arg95=) rs2131125570
NM_033305.3(VPS13A):c.2862G>T (p.Leu954=)
NM_033305.3(VPS13A):c.2865T>C (p.Asp955=) rs2131342560
NM_033305.3(VPS13A):c.2880C>T (p.Asp960=) rs1242624059
NM_033305.3(VPS13A):c.2881C>T (p.Leu961=) rs1587483623
NM_033305.3(VPS13A):c.2888C>T (p.Thr963Met)
NM_033305.3(VPS13A):c.2889G>C (p.Thr963=) rs776098236
NM_033305.3(VPS13A):c.2898T>C (p.Tyr966=)
NM_033305.3(VPS13A):c.2903dup (p.Ala969fs)
NM_033305.3(VPS13A):c.2904+13_2904+15dup
NM_033305.3(VPS13A):c.2904+247dup rs34699806
NM_033305.3(VPS13A):c.2904+7A>C
NM_033305.3(VPS13A):c.2905-127TA[10] rs111517856
NM_033305.3(VPS13A):c.2905-127TA[8] rs111517856
NM_033305.3(VPS13A):c.2905-12C>G
NM_033305.3(VPS13A):c.2905-12C>T
NM_033305.3(VPS13A):c.2905-3T>C
NM_033305.3(VPS13A):c.2905-6G>C
NM_033305.3(VPS13A):c.2905-7del rs2131346490
NM_033305.3(VPS13A):c.2907T>C (p.Ala969=)
NM_033305.3(VPS13A):c.2916T>C (p.Asn972=) rs1304878961
NM_033305.3(VPS13A):c.2917G>A (p.Val973Ile)
NM_033305.3(VPS13A):c.2919A>G (p.Val973=)
NM_033305.3(VPS13A):c.2923G>A (p.Asp975Asn)
NM_033305.3(VPS13A):c.2952A>G (p.Leu984=)
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) rs1827048548
NM_033305.3(VPS13A):c.2961T>C (p.Ile987=)
NM_033305.3(VPS13A):c.2964+11A>G
NM_033305.3(VPS13A):c.2964+14A>G
NM_033305.3(VPS13A):c.2964+15T>C
NM_033305.3(VPS13A):c.2964+18A>G
NM_033305.3(VPS13A):c.2964+19T>C
NM_033305.3(VPS13A):c.2964+20T>C
NM_033305.3(VPS13A):c.2964+2T>C
NM_033305.3(VPS13A):c.2964+7G>A rs2131346631
NM_033305.3(VPS13A):c.2965-13C>T
NM_033305.3(VPS13A):c.2965-16C>T
NM_033305.3(VPS13A):c.2965-17T>G
NM_033305.3(VPS13A):c.2965-9G>C rs2131346957
NM_033305.3(VPS13A):c.2965-9G>T rs2131346957
NM_033305.3(VPS13A):c.2970T>A (p.Asn990Lys)
NM_033305.3(VPS13A):c.2976C>T (p.Ser992=) rs2131347014
NM_033305.3(VPS13A):c.2979T>C (p.Ser993=) rs2131347021
NM_033305.3(VPS13A):c.2984A>G (p.Asp995Gly)
NM_033305.3(VPS13A):c.3006A>G (p.Ala1002=) rs2131347087
NM_033305.3(VPS13A):c.3010C>T (p.Leu1004=)
NM_033305.3(VPS13A):c.3012G>A (p.Leu1004=)
NM_033305.3(VPS13A):c.3028C>G (p.Leu1010Val)
NM_033305.3(VPS13A):c.302_306del (p.Pro100_Leu101insTer) rs2131125631
NM_033305.3(VPS13A):c.3039C>A (p.Ile1013=) rs765620878
NM_033305.3(VPS13A):c.3039C>T (p.Ile1013=)
NM_033305.3(VPS13A):c.3045G>T (p.Pro1015=) rs11145366
NM_033305.3(VPS13A):c.3049T>A (p.Ser1017Thr)
NM_033305.3(VPS13A):c.3051dup (p.Glu1018fs)
NM_033305.3(VPS13A):c.3052del (p.Glu1018fs) rs2131347192
NM_033305.3(VPS13A):c.3060A>G (p.Lys1020=)
NM_033305.3(VPS13A):c.3066C>T (p.Ala1022=) rs2131347220
NM_033305.3(VPS13A):c.3072G>A (p.Val1024=) rs1321998057
NM_033305.3(VPS13A):c.3072G>C (p.Val1024=) rs1321998057
NM_033305.3(VPS13A):c.308_309del (p.Glu103fs)
NM_033305.3(VPS13A):c.3091del (p.Asp1031fs)
NM_033305.3(VPS13A):c.3118+10T>C rs2131347382
NM_033305.3(VPS13A):c.3118+11T>A
NM_033305.3(VPS13A):c.3118+11dup rs767593595
NM_033305.3(VPS13A):c.3118+12A>T
NM_033305.3(VPS13A):c.3118+16A>G
NM_033305.3(VPS13A):c.3118+20A>G
NM_033305.3(VPS13A):c.3118+41del rs11316008
NM_033305.3(VPS13A):c.3118+41dup
NM_033305.3(VPS13A):c.3118+6_3118+7insG
NM_033305.3(VPS13A):c.3118+8T>G rs1587487734
NM_033305.3(VPS13A):c.3118+9T>C rs531720915
NM_033305.3(VPS13A):c.3119-14A>T
NM_033305.3(VPS13A):c.3119-17T>A
NM_033305.3(VPS13A):c.3119-18A>G
NM_033305.3(VPS13A):c.3119-19T>C
NM_033305.3(VPS13A):c.3119-253A>C rs140186725
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.3129A>G (p.Leu1043=) rs1350362110
NM_033305.3(VPS13A):c.3144T>C (p.Asp1048=)
NM_033305.3(VPS13A):c.3147C>A (p.Ile1049=) rs2131349951
NM_033305.3(VPS13A):c.3147C>T (p.Ile1049=) rs2131349951
NM_033305.3(VPS13A):c.3154T>C (p.Leu1052=)
NM_033305.3(VPS13A):c.3157C>T (p.Gln1053Ter) rs766694176
NM_033305.3(VPS13A):c.315A>G (p.Lys105=)
NM_033305.3(VPS13A):c.3162T>A (p.Ile1054=) rs2131349996
NM_033305.3(VPS13A):c.3165A>G (p.Leu1055=)
NM_033305.3(VPS13A):c.3171A>G (p.Glu1057=)
NM_033305.3(VPS13A):c.3172T>C (p.Leu1058=) rs2131350018
NM_033305.3(VPS13A):c.317A>G (p.Gln106Arg)
NM_033305.3(VPS13A):c.3184C>T (p.Gln1062Ter) rs1827159007
NM_033305.3(VPS13A):c.3200_3201insCC (p.Gln1068fs)
NM_033305.3(VPS13A):c.3207A>G (p.Lys1069=) rs747319218
NM_033305.3(VPS13A):c.3210T>C (p.Cys1070=) rs1827159878
NM_033305.3(VPS13A):c.3213C>T (p.Asn1071=)
NM_033305.3(VPS13A):c.321C>G (p.Leu107=)
NM_033305.3(VPS13A):c.3227del (p.Lys1076fs) rs1406208410
NM_033305.3(VPS13A):c.3235+13_3235+16del
NM_033305.3(VPS13A):c.3235+14A>G
NM_033305.3(VPS13A):c.3235+1G>T
NM_033305.3(VPS13A):c.3236-10G>A
NM_033305.3(VPS13A):c.3236-19C>A
NM_033305.3(VPS13A):c.3236-21_3236-18del
NM_033305.3(VPS13A):c.3236-2A>G rs2131350326
NM_033305.3(VPS13A):c.3236-4T>A rs779504734
NM_033305.3(VPS13A):c.3236-7C>T
NM_033305.3(VPS13A):c.3237G>A (p.Gly1079=) rs2131350329
NM_033305.3(VPS13A):c.3243T>C (p.Asp1081=)
NM_033305.3(VPS13A):c.3249G>A (p.Glu1083=) rs748592365
NM_033305.3(VPS13A):c.3261G>A (p.Arg1087=)
NM_033305.3(VPS13A):c.3264T>C (p.Pro1088=)
NM_033305.3(VPS13A):c.3267A>C (p.Ser1089=) rs1260781307
NM_033305.3(VPS13A):c.3276A>G (p.Glu1092=)
NM_033305.3(VPS13A):c.3279A>T (p.Ile1093=) rs2131350395
NM_033305.3(VPS13A):c.3293G>A (p.Arg1098Lys)
NM_033305.3(VPS13A):c.3300A>T (p.Ile1100=) rs1827168366
NM_033305.3(VPS13A):c.3304del (p.Val1102fs)
NM_033305.3(VPS13A):c.3312T>C (p.Asp1104=)
NM_033305.3(VPS13A):c.3315T>C (p.Ser1105=)
NM_033305.3(VPS13A):c.3318T>C (p.Asp1106=) rs2131350498
NM_033305.3(VPS13A):c.3324A>T (p.Thr1108=) rs2131350516
NM_033305.3(VPS13A):c.3328A>G (p.Ile1110Val)
NM_033305.3(VPS13A):c.3332A>G (p.Tyr1111Cys)
NM_033305.3(VPS13A):c.3336A>G (p.Lys1112=) rs2131350551
NM_033305.3(VPS13A):c.3339+12T>C
NM_033305.3(VPS13A):c.3339+15A>C
NM_033305.3(VPS13A):c.3339+15A>G
NM_033305.3(VPS13A):c.3339+17T>G
NM_033305.3(VPS13A):c.3339+331del rs779066797
NM_033305.3(VPS13A):c.3339+7A>G
NM_033305.3(VPS13A):c.3339+9T>C
NM_033305.3(VPS13A):c.333G>A (p.Lys111=)
NM_033305.3(VPS13A):c.3340-11C>G
NM_033305.3(VPS13A):c.3340-11C>T
NM_033305.3(VPS13A):c.3340-16A>G
NM_033305.3(VPS13A):c.3340-2A>C
NM_033305.3(VPS13A):c.3340-4T>G rs2131371729
NM_033305.3(VPS13A):c.3340-7del
NM_033305.3(VPS13A):c.3340-9_3340-8del
NM_033305.3(VPS13A):c.3342T>C (p.Ala1114=)
NM_033305.3(VPS13A):c.3351C>T (p.Ile1117=) rs766492538
NM_033305.3(VPS13A):c.3357A>C (p.Gly1119=) rs759134299
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) rs780664594
NM_033305.3(VPS13A):c.3394del (p.Asp1132fs) rs756830060
NM_033305.3(VPS13A):c.3396T>C (p.Asp1132=) rs2131371827
NM_033305.3(VPS13A):c.3399A>C (p.Ala1133=)
NM_033305.3(VPS13A):c.3406G>A (p.Gly1136Ser)
NM_033305.3(VPS13A):c.3414A>C (p.Ala1138=)
NM_033305.3(VPS13A):c.3414A>G (p.Ala1138=)
NM_033305.3(VPS13A):c.3414A>T (p.Ala1138=) rs2131371867
NM_033305.3(VPS13A):c.3417C>T (p.Tyr1139=) rs1002210810
NM_033305.3(VPS13A):c.3419C>T (p.Thr1140Ile)
NM_033305.3(VPS13A):c.3421_3422del (p.Asp1141fs)
NM_033305.3(VPS13A):c.3423T>C (p.Asp1141=) rs2131371901
NM_033305.3(VPS13A):c.3428_3435del (p.Asn1143fs)
NM_033305.3(VPS13A):c.3444G>A (p.Gln1148=)
NM_033305.3(VPS13A):c.3449A>G (p.Asn1150Ser)
NM_033305.3(VPS13A):c.3453A>G (p.Leu1151=) rs1827792991
NM_033305.3(VPS13A):c.3456_3459del (p.Ile1152fs) rs2131371963
NM_033305.3(VPS13A):c.3459del (p.Gly1154fs) rs2131371975
NM_033305.3(VPS13A):c.3465C>T (p.Cys1155=)
NM_033305.3(VPS13A):c.3468T>C (p.Ile1156=) rs774438383
NM_033305.3(VPS13A):c.3474A>G (p.Val1158=)
NM_033305.3(VPS13A):c.3478T>G (p.Phe1160Val)
NM_033305.3(VPS13A):c.3480dup (p.Val1161fs)
NM_033305.3(VPS13A):c.3481G>C (p.Val1161Leu)
NM_033305.3(VPS13A):c.3481dup (p.Val1161fs) rs2131372034
NM_033305.3(VPS13A):c.3502A>G (p.Ile1168Val)
NM_033305.3(VPS13A):c.3505T>C (p.Leu1169=)
NM_033305.3(VPS13A):c.3507+10T>G rs1486926563
NM_033305.3(VPS13A):c.3507+10_3507+14del
NM_033305.3(VPS13A):c.3507+13T>A
NM_033305.3(VPS13A):c.3507+14T>G
NM_033305.3(VPS13A):c.3507+16_3507+20del
NM_033305.3(VPS13A):c.3507+17ATT[2]
NM_033305.3(VPS13A):c.3507+1G>A rs2131372085
NM_033305.3(VPS13A):c.3508-14C>T
NM_033305.3(VPS13A):c.3508-16T>A
NM_033305.3(VPS13A):c.3508-17A>C
NM_033305.3(VPS13A):c.3508-20A>G
NM_033305.3(VPS13A):c.3508-44G>T rs1317304
NM_033305.3(VPS13A):c.3508-4A>G
NM_033305.3(VPS13A):c.3508-9A>C rs765612230
NM_033305.3(VPS13A):c.3513dup (p.Ile1172fs)
NM_033305.3(VPS13A):c.3524T>C (p.Phe1175Ser)
NM_033305.3(VPS13A):c.3528G>A (p.Gln1176=)
NM_033305.3(VPS13A):c.3540A>G (p.Gln1180=)
NM_033305.3(VPS13A):c.3541G>A (p.Ala1181Thr)
NM_033305.3(VPS13A):c.3543C>T (p.Ala1181=)
NM_033305.3(VPS13A):c.3558T>C (p.Thr1186=)
NM_033305.3(VPS13A):c.3562C>T (p.Gln1188Ter)
NM_033305.3(VPS13A):c.3573A>C (p.Gly1191=)
NM_033305.3(VPS13A):c.3573A>G (p.Gly1191=)
NM_033305.3(VPS13A):c.3574_3575del (p.Met1192fs)
NM_033305.3(VPS13A):c.3578C>T (p.Ala1193Val)
NM_033305.3(VPS13A):c.357A>G (p.Glu119=)
NM_033305.3(VPS13A):c.3582T>C (p.Ala1194=) rs2131376193
NM_033305.3(VPS13A):c.3591A>G (p.Val1197=) rs1827944313
NM_033305.3(VPS13A):c.3597_3598insT (p.Leu1200fs)
NM_033305.3(VPS13A):c.359A>C (p.Glu120Ala)
NM_033305.3(VPS13A):c.3600C>G (p.Leu1200=) rs376174010
NM_033305.3(VPS13A):c.3603A>T (p.Ala1201=) rs2131376249
NM_033305.3(VPS13A):c.3607A>C (p.Arg1203=)
NM_033305.3(VPS13A):c.3618A>G (p.Arg1206=) rs2131376288
NM_033305.3(VPS13A):c.3624A>C (p.Ala1208=) rs2131376295
NM_033305.3(VPS13A):c.3625C>T (p.Leu1209=)
NM_033305.3(VPS13A):c.3627G>C (p.Leu1209=) rs2131376307
NM_033305.3(VPS13A):c.3636C>T (p.Asn1212=) rs1432686778
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) rs1172751806
NM_033305.3(VPS13A):c.3642A>G (p.Lys1214=)
NM_033305.3(VPS13A):c.3645C>G (p.Ala1215=) rs138687767
NM_033305.3(VPS13A):c.3657C>T (p.Val1219=)
NM_033305.3(VPS13A):c.3664C>T (p.Gln1222Ter)
NM_033305.3(VPS13A):c.3669T>A (p.Ser1223=) rs2131376421
NM_033305.3(VPS13A):c.3681A>G (p.Glu1227=) rs2131376450
NM_033305.3(VPS13A):c.36C>T (p.Asn12=)
NM_033305.3(VPS13A):c.3705A>G (p.Gly1235=)
NM_033305.3(VPS13A):c.3708A>C (p.Leu1236=) rs2131376475
NM_033305.3(VPS13A):c.3711T>C (p.Ile1237=)
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=) rs769379977
NM_033305.3(VPS13A):c.3748C>T (p.Gln1250Ter)
NM_033305.3(VPS13A):c.3753C>G (p.Ser1251Arg)
NM_033305.3(VPS13A):c.3753C>T (p.Ser1251=) rs759933502
NM_033305.3(VPS13A):c.3761dup (p.Pro1255fs) rs2131376583
NM_033305.3(VPS13A):c.3769del (p.Ile1257fs)
NM_033305.3(VPS13A):c.3770T>C (p.Ile1257Thr)
NM_033305.3(VPS13A):c.3780_3782delinsGAT (p.Ile1260_Thr1261delinsMetIle) rs2131376645
NM_033305.3(VPS13A):c.3781A>G (p.Thr1261Ala)
NM_033305.3(VPS13A):c.3784A>G (p.Ile1262Val)
NM_033305.3(VPS13A):c.3800T>C (p.Met1267Thr)
NM_033305.3(VPS13A):c.3802C>T (p.Arg1268Ter)
NM_033305.3(VPS13A):c.3803G>A (p.Arg1268Gln)
NM_033305.3(VPS13A):c.3804A>G (p.Arg1268=) rs527418139
NM_033305.3(VPS13A):c.3810C>T (p.Tyr1270=) rs1827962346
NM_033305.3(VPS13A):c.3812+14A>T
NM_033305.3(VPS13A):c.3812+15A>G
NM_033305.3(VPS13A):c.3812+17T>C
NM_033305.3(VPS13A):c.3812+18A>G
NM_033305.3(VPS13A):c.3812+1G>T
NM_033305.3(VPS13A):c.3812+20A>G
NM_033305.3(VPS13A):c.3813-10C>T rs1422738496
NM_033305.3(VPS13A):c.3813-16T>G
NM_033305.3(VPS13A):c.3813-4A>C
NM_033305.3(VPS13A):c.3813-4A>G
NM_033305.3(VPS13A):c.3813-4del
NM_033305.3(VPS13A):c.3813-8A>C
NM_033305.3(VPS13A):c.3813-8A>G
NM_033305.3(VPS13A):c.3817C>T (p.Arg1273Ter) rs756096368
NM_033305.3(VPS13A):c.3819A>G (p.Arg1273=)
NM_033305.3(VPS13A):c.3827A>G (p.Asn1276Ser)
NM_033305.3(VPS13A):c.3834A>C (p.Ala1278=) rs778637226
NM_033305.3(VPS13A):c.3834A>G (p.Ala1278=) rs778637226
NM_033305.3(VPS13A):c.3841del (p.Glu1281fs)
NM_033305.3(VPS13A):c.385+15A>T
NM_033305.3(VPS13A):c.385+221TTA[4] rs141045905
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+250_385+251insATATATA 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.3858C>A (p.Leu1286=) rs2131394432
NM_033305.3(VPS13A):c.386-10G>T rs1178473943
NM_033305.3(VPS13A):c.386-14A>G
NM_033305.3(VPS13A):c.386-17A>C
NM_033305.3(VPS13A):c.386-2A>G rs2131140222
NM_033305.3(VPS13A):c.386-337C>T rs10869910
NM_033305.3(VPS13A):c.386-4G>A
NM_033305.3(VPS13A):c.386-7A>G
NM_033305.3(VPS13A):c.386-8A>G rs770154538
NM_033305.3(VPS13A):c.386-9del rs1825849317
NM_033305.3(VPS13A):c.3864A>G (p.Pro1288=) rs2131394441
NM_033305.3(VPS13A):c.3866dup (p.Leu1289fs) rs2131394444
NM_033305.3(VPS13A):c.3889C>A (p.Arg1297=)
NM_033305.3(VPS13A):c.3893A>G (p.Asn1298Ser)
NM_033305.3(VPS13A):c.3895T>C (p.Leu1299=)
NM_033305.3(VPS13A):c.3909G>A (p.Trp1303Ter)
NM_033305.3(VPS13A):c.3913C>T (p.Gln1305Ter) rs2131394544
NM_033305.3(VPS13A):c.3927T>C (p.Cys1309=)
NM_033305.3(VPS13A):c.3932A>C (p.Asn1311Thr)
NM_033305.3(VPS13A):c.3934G>A (p.Val1312Ile)
NM_033305.3(VPS13A):c.3935T>C (p.Val1312Ala)
NM_033305.3(VPS13A):c.3939T>C (p.Asn1313=)
NM_033305.3(VPS13A):c.3943C>T (p.Gln1315Ter)
NM_033305.3(VPS13A):c.3954A>G (p.Pro1318=) rs2131394616
NM_033305.3(VPS13A):c.3960+10T>G rs1828475266
NM_033305.3(VPS13A):c.3960+11_3960+12del
NM_033305.3(VPS13A):c.3960+18C>G
NM_033305.3(VPS13A):c.3960+7T>G rs2131394654
NM_033305.3(VPS13A):c.3961-10T>G rs2131409137
NM_033305.3(VPS13A):c.3961-13T>G
NM_033305.3(VPS13A):c.3961-14T>C
NM_033305.3(VPS13A):c.3961-16dup
NM_033305.3(VPS13A):c.3961-2A>G rs1244139989
NM_033305.3(VPS13A):c.3961-4dup rs765592704
NM_033305.3(VPS13A):c.3961-6T>C
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.3961-7_3961-6insC rs1587545584
NM_033305.3(VPS13A):c.3961-8_3961-6dup
NM_033305.3(VPS13A):c.3971_3974del (p.Ser1324fs) rs1475930869
NM_033305.3(VPS13A):c.3988A>G (p.Thr1330Ala)
NM_033305.3(VPS13A):c.3996del (p.Phe1332fs)
NM_033305.3(VPS13A):c.4005G>A (p.Leu1335=)
NM_033305.3(VPS13A):c.4031A>G (p.Asp1344Gly)
NM_033305.3(VPS13A):c.4032T>C (p.Asp1344=) rs2131409378
NM_033305.3(VPS13A):c.4035T>C (p.Gly1345=)
NM_033305.3(VPS13A):c.4044A>G (p.Ser1348=) rs2131409405
NM_033305.3(VPS13A):c.4054del (p.Thr1352fs)
NM_033305.3(VPS13A):c.4056A>C (p.Thr1352=)
NM_033305.3(VPS13A):c.405A>G (p.Lys135=)
NM_033305.3(VPS13A):c.4063C>G (p.Gln1355Glu)
NM_033305.3(VPS13A):c.4065A>G (p.Gln1355=) rs970555193
NM_033305.3(VPS13A):c.4070G>T (p.Ser1357Ile)
NM_033305.3(VPS13A):c.4072_4073del (p.Ala1358fs)
NM_033305.3(VPS13A):c.4074C>T (p.Ala1358=)
NM_033305.3(VPS13A):c.4075A>G (p.Thr1359Ala)
NM_033305.3(VPS13A):c.4077T>G (p.Thr1359=)
NM_033305.3(VPS13A):c.4083A>C (p.Gly1361=)
NM_033305.3(VPS13A):c.4083A>T (p.Gly1361=) rs904289262
NM_033305.3(VPS13A):c.4098T>C (p.Ala1366=)
NM_033305.3(VPS13A):c.4102C>A (p.His1368Asn)
NM_033305.3(VPS13A):c.4111G>A (p.Gly1371Arg)
NM_033305.3(VPS13A):c.4114+10del
NM_033305.3(VPS13A):c.4114+13C>T
NM_033305.3(VPS13A):c.4114+16C>A
NM_033305.3(VPS13A):c.4114+18A>C
NM_033305.3(VPS13A):c.4114+18A>G
NM_033305.3(VPS13A):c.4114+19A>G
NM_033305.3(VPS13A):c.4115-10T>A rs1449705603
NM_033305.3(VPS13A):c.4115-13T>C
NM_033305.3(VPS13A):c.4115-13T>G
NM_033305.3(VPS13A):c.4115-20A>T
NM_033305.3(VPS13A):c.4115-2A>C
NM_033305.3(VPS13A):c.4122T>G (p.Thr1374=)
NM_033305.3(VPS13A):c.4129A>G (p.Thr1377Ala)
NM_033305.3(VPS13A):c.4130C>T (p.Thr1377Ile)
NM_033305.3(VPS13A):c.413C>G (p.Thr138Ser)
NM_033305.3(VPS13A):c.4146A>G (p.Glu1382=)
NM_033305.3(VPS13A):c.4157G>A (p.Arg1386His)
NM_033305.3(VPS13A):c.4157G>C (p.Arg1386Pro)
NM_033305.3(VPS13A):c.4165C>G (p.Leu1389Val)
NM_033305.3(VPS13A):c.4176A>G (p.Thr1392=)
NM_033305.3(VPS13A):c.4179A>T (p.Thr1393=)
NM_033305.3(VPS13A):c.4180C>T (p.Leu1394=)
NM_033305.3(VPS13A):c.4182A>G (p.Leu1394=)
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) rs773982653
NM_033305.3(VPS13A):c.4186A>T (p.Ile1396Leu)
NM_033305.3(VPS13A):c.4191C>T (p.Ser1397=)
NM_033305.3(VPS13A):c.4205_4208del (p.Asp1402fs)
NM_033305.3(VPS13A):c.4212C>T (p.Thr1404=)
NM_033305.3(VPS13A):c.4230A>C (p.Pro1410=) rs2131426290
NM_033305.3(VPS13A):c.4242+18A>T
NM_033305.3(VPS13A):c.4242+7C>A
NM_033305.3(VPS13A):c.4242+7C>T
NM_033305.3(VPS13A):c.4243-16G>A
NM_033305.3(VPS13A):c.4243-18T>G
NM_033305.3(VPS13A):c.4243-20G>A
NM_033305.3(VPS13A):c.4243-4A>G rs2131427457
NM_033305.3(VPS13A):c.4243-5C>G
NM_033305.3(VPS13A):c.4243-7T>C
NM_033305.3(VPS13A):c.4243-9C>T rs762181071
NM_033305.3(VPS13A):c.4245T>A (p.Ala1415=)
NM_033305.3(VPS13A):c.4245T>C (p.Ala1415=) rs773625189
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.4260T>C (p.Val1420=) rs2131427514
NM_033305.3(VPS13A):c.4263T>C (p.Arg1421=)
NM_033305.3(VPS13A):c.4265A>G (p.Asp1422Gly)
NM_033305.3(VPS13A):c.4269T>G (p.Pro1423=) rs2131427548
NM_033305.3(VPS13A):c.4273C>G (p.Leu1425Val) rs776796376
NM_033305.3(VPS13A):c.4284del (p.Glu1429fs) rs2131427592
NM_033305.3(VPS13A):c.42C>T (p.Phe14=) rs2131030100
NM_033305.3(VPS13A):c.4314T>C (p.Thr1438=) rs2131427638
NM_033305.3(VPS13A):c.4315T>C (p.Leu1439=) rs2131427648
NM_033305.3(VPS13A):c.4326T>A (p.Tyr1442Ter)
NM_033305.3(VPS13A):c.4329A>G (p.Thr1443=)
NM_033305.3(VPS13A):c.4332T>A (p.Asp1444Glu)
NM_033305.3(VPS13A):c.4333G>A (p.Gly1445Ser)
NM_033305.3(VPS13A):c.4341A>G (p.Thr1447=)
NM_033305.3(VPS13A):c.4347T>A (p.Ser1449=)
NM_033305.3(VPS13A):c.4349C>T (p.Ser1450Phe)
NM_033305.3(VPS13A):c.4350C>T (p.Ser1450=)
NM_033305.3(VPS13A):c.4356A>G (p.Ser1452=)
NM_033305.3(VPS13A):c.4357T>A (p.Leu1453Ile)
NM_033305.3(VPS13A):c.4367_4368del (p.Cys1456fs)
NM_033305.3(VPS13A):c.4383A>G (p.Lys1461=) rs1235873151
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=) rs1829282039
NM_033305.3(VPS13A):c.4406C>T (p.Thr1469Ile)
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033305.3(VPS13A):c.4412+10G>A
NM_033305.3(VPS13A):c.4412+12A>G
NM_033305.3(VPS13A):c.4412+14T>A
NM_033305.3(VPS13A):c.4412+174T>G rs17339033
NM_033305.3(VPS13A):c.4412+17T>C
NM_033305.3(VPS13A):c.4412+215C>A rs7855014
NM_033305.3(VPS13A):c.4412+3A>G
NM_033305.3(VPS13A):c.4412G>A (p.Arg1471Gln)
NM_033305.3(VPS13A):c.4413-13T>C
NM_033305.3(VPS13A):c.4413-14A>G
NM_033305.3(VPS13A):c.4413-17_4413-15del
NM_033305.3(VPS13A):c.4413-1G>A rs2131429839
NM_033305.3(VPS13A):c.4413-205_4579del
NM_033305.3(VPS13A):c.4413-20G>A
NM_033305.3(VPS13A):c.4413-44C>G rs377250650
NM_033305.3(VPS13A):c.4413-9G>A
NM_033305.3(VPS13A):c.4413-9G>T rs1829320460
NM_033305.3(VPS13A):c.441C>A (p.Ile147=) rs1192258037
NM_033305.3(VPS13A):c.4425G>A (p.Leu1475=)
NM_033305.3(VPS13A):c.4425G>C (p.Leu1475=) rs2131429872
NM_033305.3(VPS13A):c.4425G>T (p.Leu1475=) rs2131429872
NM_033305.3(VPS13A):c.4428_4431del (p.Gly1478fs) rs1417219341
NM_033305.3(VPS13A):c.4430T>C (p.Val1477Ala)
NM_033305.3(VPS13A):c.4446dup (p.Asp1483fs) rs1829322194
NM_033305.3(VPS13A):c.4455_4458del (p.Met1485fs)
NM_033305.3(VPS13A):c.4485T>C (p.Gly1495=)
NM_033305.3(VPS13A):c.4491G>T (p.Val1497=) rs1829324081
NM_033305.3(VPS13A):c.4497T>C (p.Asp1499=)
NM_033305.3(VPS13A):c.4498dup (p.Ala1500fs) rs1564721202
NM_033305.3(VPS13A):c.4500G>A (p.Ala1500=)
NM_033305.3(VPS13A):c.4506T>C (p.Phe1502=)
NM_033305.3(VPS13A):c.4514T>C (p.Met1505Thr)
NM_033305.3(VPS13A):c.4521T>C (p.Ile1507=)
NM_033305.3(VPS13A):c.4531G>A (p.Val1511Ile)
NM_033305.3(VPS13A):c.4533A>G (p.Val1511=)
NM_033305.3(VPS13A):c.4533A>T (p.Val1511=) rs2131430266
NM_033305.3(VPS13A):c.4536A>G (p.Glu1512=) rs2131430274
NM_033305.3(VPS13A):c.4541T>G (p.Leu1514Arg) rs1209643081
NM_033305.3(VPS13A):c.4545G>A (p.Gln1515=)
NM_033305.3(VPS13A):c.4548T>G (p.Thr1516=)
NM_033305.3(VPS13A):c.4581A>G (p.Thr1527=)
NM_033305.3(VPS13A):c.4589C>T (p.Ala1530Val)
NM_033305.3(VPS13A):c.4590T>C (p.Ala1530=) rs141940484
NM_033305.3(VPS13A):c.4599C>G (p.Thr1533=)
NM_033305.3(VPS13A):c.4599C>T (p.Thr1533=) rs759455987
NM_033305.3(VPS13A):c.4605G>A (p.Val1535=)
NM_033305.3(VPS13A):c.4608A>G (p.Gln1536=)
NM_033305.3(VPS13A):c.4611A>G (p.Thr1537=)
NM_033305.3(VPS13A):c.4620T>C (p.Ala1540=) rs755677740
NM_033305.3(VPS13A):c.4623G>A (p.Lys1541=) rs2131430525
NM_033305.3(VPS13A):c.4625AAG[1] (p.Glu1543del)
NM_033305.3(VPS13A):c.4630+14T>C
NM_033305.3(VPS13A):c.4630+178dup rs11454108
NM_033305.3(VPS13A):c.4630+17A>C
NM_033305.3(VPS13A):c.4630+18A>G
NM_033305.3(VPS13A):c.4630+9T>C rs562486464
NM_033305.3(VPS13A):c.4631-11A>G
NM_033305.3(VPS13A):c.4631-19C>A
NM_033305.3(VPS13A):c.4653G>A (p.Lys1551=) rs1230725988
NM_033305.3(VPS13A):c.4672A>G (p.Ile1558Val)
NM_033305.3(VPS13A):c.4680T>C (p.Asn1560=) rs1829376398
NM_033305.3(VPS13A):c.468C>T (p.Ser156=) rs1825854003
NM_033305.3(VPS13A):c.4692_4693del (p.Phe1565fs) rs1296924903
NM_033305.3(VPS13A):c.4715dup (p.Asn1572fs)
NM_033305.3(VPS13A):c.4722T>A (p.Ala1574=)
NM_033305.3(VPS13A):c.4722T>G (p.Ala1574=) rs1213077949
NM_033305.3(VPS13A):c.472A>G (p.Ile158Val)
NM_033305.3(VPS13A):c.4731A>G (p.Leu1577=) rs1010424351
NM_033305.3(VPS13A):c.4735A>G (p.Ile1579Val)
NM_033305.3(VPS13A):c.4737T>C (p.Ile1579=) rs2131432885
NM_033305.3(VPS13A):c.4749_4750del (p.Cys1583_Glu1584delinsTer)
NM_033305.3(VPS13A):c.4755T>C (p.Ile1585=)
NM_033305.3(VPS13A):c.4759T>C (p.Tyr1587His)
NM_033305.3(VPS13A):c.4785A>C (p.Thr1595=) rs2131433061
NM_033305.3(VPS13A):c.4785_4787del (p.Met1596del)
NM_033305.3(VPS13A):c.478A>G (p.Ile160Val)
NM_033305.3(VPS13A):c.4797C>A (p.Ala1599=)
NM_033305.3(VPS13A):c.4797C>T (p.Ala1599=) rs2131433092
NM_033305.3(VPS13A):c.4809C>G (p.Leu1603=)
NM_033305.3(VPS13A):c.4811A>G (p.Gln1604Arg)
NM_033305.3(VPS13A):c.4821C>T (p.Ala1607=) rs1488009693
NM_033305.3(VPS13A):c.4833T>G (p.Leu1611=) rs2131433199
NM_033305.3(VPS13A):c.4834C>G (p.Pro1612Ala)
NM_033305.3(VPS13A):c.4836A>T (p.Pro1612=) rs2131433211
NM_033305.3(VPS13A):c.4839C>A (p.Val1613=)
NM_033305.3(VPS13A):c.4839C>T (p.Val1613=) rs2131433217
NM_033305.3(VPS13A):c.4842G>A (p.Lys1614=) rs752782186
NM_033305.3(VPS13A):c.4854A>G (p.Lys1618=) rs2131433251
NM_033305.3(VPS13A):c.4860T>C (p.Thr1620=) rs2131433270
NM_033305.3(VPS13A):c.4861A>G (p.Thr1621Ala)
NM_033305.3(VPS13A):c.4863+10C>T rs2131433299
NM_033305.3(VPS13A):c.4863+12A>G
NM_033305.3(VPS13A):c.4863+16G>A
NM_033305.3(VPS13A):c.4863+19C>T
NM_033305.3(VPS13A):c.4864-10del
NM_033305.3(VPS13A):c.4864-12T>C
NM_033305.3(VPS13A):c.4864-16G>A
NM_033305.3(VPS13A):c.4864-20T>C
NM_033305.3(VPS13A):c.4864-291A>G rs78551474
NM_033305.3(VPS13A):c.4864-4A>G
NM_033305.3(VPS13A):c.4864-4A>T rs768019151
NM_033305.3(VPS13A):c.4864-7C>G
NM_033305.3(VPS13A):c.4864-7C>T rs759849795
NM_033305.3(VPS13A):c.4864-8T>A
NM_033305.3(VPS13A):c.4872G>A (p.Gln1624=)
NM_033305.3(VPS13A):c.4879_4880dup (p.Asp1627fs)
NM_033305.3(VPS13A):c.4881C>G (p.Asp1627Glu)
NM_033305.3(VPS13A):c.4887T>C (p.Phe1629=) rs1442574602
NM_033305.3(VPS13A):c.4893A>G (p.Gln1631=)
NM_033305.3(VPS13A):c.4899T>C (p.Thr1633=) rs777823793
NM_033305.3(VPS13A):c.4900C>T (p.Gln1634Ter)
NM_033305.3(VPS13A):c.4906G>A (p.Gly1636Ser)
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) rs1829478568
NM_033305.3(VPS13A):c.4920A>G (p.Gln1640=)
NM_033305.3(VPS13A):c.4926C>A (p.Ile1642=)
NM_033305.3(VPS13A):c.4926C>T (p.Ile1642=) rs199860034
NM_033305.3(VPS13A):c.492T>C (p.Asp164=) rs2131140562
NM_033305.3(VPS13A):c.4935A>G (p.Ser1645=)
NM_033305.3(VPS13A):c.4941A>G (p.Lys1647=)
NM_033305.3(VPS13A):c.4945C>T (p.Leu1649=)
NM_033305.3(VPS13A):c.495+12A>C
NM_033305.3(VPS13A):c.495+12A>T
NM_033305.3(VPS13A):c.495+14T>C
NM_033305.3(VPS13A):c.495+15A>G
NM_033305.3(VPS13A):c.495+15_495+16del
NM_033305.3(VPS13A):c.4953A>G (p.Leu1651=) rs2131437581
NM_033305.3(VPS13A):c.4956+10A>G
NM_033305.3(VPS13A):c.4956+18C>A
NM_033305.3(VPS13A):c.4956+18C>T
NM_033305.3(VPS13A):c.4956+1G>A rs1085307823
NM_033305.3(VPS13A):c.4956+7T>G rs1829483045
NM_033305.3(VPS13A):c.4957-10T>C
NM_033305.3(VPS13A):c.4957-17_4957-14del
NM_033305.3(VPS13A):c.4957-19T>C
NM_033305.3(VPS13A):c.4957-19_4957-17del
NM_033305.3(VPS13A):c.4957-2A>G
NM_033305.3(VPS13A):c.4957-7C>A
NM_033305.3(VPS13A):c.4957-8C>T
NM_033305.3(VPS13A):c.4957-9del
NM_033305.3(VPS13A):c.4959T>G (p.Val1653=) rs2131439294
NM_033305.3(VPS13A):c.496-10del
NM_033305.3(VPS13A):c.496-12T>G
NM_033305.3(VPS13A):c.496-14del
NM_033305.3(VPS13A):c.496-248G>T rs10869911
NM_033305.3(VPS13A):c.496-264C>A rs117509387
NM_033305.3(VPS13A):c.496-8C>G
NM_033305.3(VPS13A):c.496-9C>A
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.4972A>G (p.Ile1658Val)
NM_033305.3(VPS13A):c.4998A>G (p.Ser1666=) rs762435915
NM_033305.3(VPS13A):c.49dup (p.Asp17fs) rs2131030113
NM_033305.3(VPS13A):c.5014A>G (p.Lys1672Glu)
NM_033305.3(VPS13A):c.5019A>G (p.Glu1673=)
NM_033305.3(VPS13A):c.501A>C (p.Thr167=)
NM_033305.3(VPS13A):c.5022C>T (p.Thr1674=)
NM_033305.3(VPS13A):c.5024dup (p.Glu1677fs) rs2131439491
NM_033305.3(VPS13A):c.5028A>G (p.Pro1676=)
NM_033305.3(VPS13A):c.5029G>A (p.Glu1677Lys)
NM_033305.3(VPS13A):c.5032del (p.Glu1678fs)
NM_033305.3(VPS13A):c.503A>T (p.Asn168Ile)
NM_033305.3(VPS13A):c.5040T>C (p.Ala1680=) rs2131439545
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) rs1181531896
NM_033305.3(VPS13A):c.5049T>G (p.Thr1683=)
NM_033305.3(VPS13A):c.5051del (p.Ala1684fs)
NM_033305.3(VPS13A):c.5052A>C (p.Ala1684=) rs1405658306
NM_033305.3(VPS13A):c.5057del (p.Leu1686fs)
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) rs139380985
NM_033305.3(VPS13A):c.5070G>A (p.Lys1690=)
NM_033305.3(VPS13A):c.5075_5076del (p.Thr1692fs) rs2131439679
NM_033305.3(VPS13A):c.5100T>G (p.Leu1700=)
NM_033305.3(VPS13A):c.5115A>G (p.Glu1705=) rs768989673
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del) rs753852395
NM_033305.3(VPS13A):c.5118T>A (p.Thr1706=)
NM_033305.3(VPS13A):c.5124A>G (p.Lys1708=)
NM_033305.3(VPS13A):c.5125dup (p.Ile1709fs) rs2131439817
NM_033305.3(VPS13A):c.5131C>G (p.Pro1711Ala)
NM_033305.3(VPS13A):c.5136A>G (p.Thr1712=)
NM_033305.3(VPS13A):c.5143T>C (p.Leu1715=) rs2131439945
NM_033305.3(VPS13A):c.5148A>G (p.Val1716=)
NM_033305.3(VPS13A):c.5151C>G (p.Pro1717=) rs2131439972
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=) rs1829532281
NM_033305.3(VPS13A):c.5158G>A (p.Glu1720Lys)
NM_033305.3(VPS13A):c.5160G>A (p.Glu1720=) rs1487264324
NM_033305.3(VPS13A):c.5175C>T (p.Asn1725=) rs375399262
NM_033305.3(VPS13A):c.5196T>A (p.Val1732=)
NM_033305.3(VPS13A):c.519G>C (p.Leu173=) rs766587340
NM_033305.3(VPS13A):c.5202G>A (p.Glu1734=)
NM_033305.3(VPS13A):c.5205T>C (p.Ala1735=)
NM_033305.3(VPS13A):c.5208A>C (p.Gly1736=)
NM_033305.3(VPS13A):c.5208A>G (p.Gly1736=)
NM_033305.3(VPS13A):c.5211T>A (p.Ile1737=)
NM_033305.3(VPS13A):c.5219_5222dup (p.Val1742fs)
NM_033305.3(VPS13A):c.5226A>G (p.Val1742=) rs1308340529
NM_033305.3(VPS13A):c.5230A>G (p.Met1744Val)
NM_033305.3(VPS13A):c.5236C>T (p.Leu1746=)
NM_033305.3(VPS13A):c.5238G>A (p.Leu1746=)
NM_033305.3(VPS13A):c.5256A>G (p.Ser1752=) rs2131440363
NM_033305.3(VPS13A):c.5262A>G (p.Glu1754=) rs2131440402
NM_033305.3(VPS13A):c.5289T>G (p.Asn1763Lys)
NM_033305.3(VPS13A):c.5292G>C (p.Leu1764=)
NM_033305.3(VPS13A):c.5313+13T>G
NM_033305.3(VPS13A):c.5313+15C>T
NM_033305.3(VPS13A):c.5313+17A>G
NM_033305.3(VPS13A):c.5313+18G>C
NM_033305.3(VPS13A):c.5313+18G>T
NM_033305.3(VPS13A):c.5313+212A>C rs17063533
NM_033305.3(VPS13A):c.5313+5_5313+8dup
NM_033305.3(VPS13A):c.5313+7A>G rs751128331
NM_033305.3(VPS13A):c.5313+7A>T rs751128331
NM_033305.3(VPS13A):c.5313+9A>G
NM_033305.3(VPS13A):c.5314-10C>G
NM_033305.3(VPS13A):c.5314-10C>T
NM_033305.3(VPS13A):c.5314-18A>T
NM_033305.3(VPS13A):c.5314-19T>A
NM_033305.3(VPS13A):c.5314-324dup rs146346789
NM_033305.3(VPS13A):c.5314-4G>A
NM_033305.3(VPS13A):c.5314-4G>C rs755788493
NM_033305.3(VPS13A):c.5314-5T>C
NM_033305.3(VPS13A):c.531T>A (p.Ile177=) rs774869789
NM_033305.3(VPS13A):c.5327A>G (p.Asn1776Ser)
NM_033305.3(VPS13A):c.5331A>G (p.Glu1777=) rs1257062251
NM_033305.3(VPS13A):c.5340T>C (p.Gly1780=)
NM_033305.3(VPS13A):c.5343A>G (p.Val1781=)
NM_033305.3(VPS13A):c.5345G>A (p.Trp1782Ter)
NM_033305.3(VPS13A):c.534C>T (p.Ser178=)
NM_033305.3(VPS13A):c.5358T>G (p.Leu1786=) rs2131443858
NM_033305.3(VPS13A):c.5364C>G (p.Pro1788=) rs1180279422
NM_033305.3(VPS13A):c.5367dup (p.Glu1790fs)
NM_033305.3(VPS13A):c.5370_5371insT (p.Ile1791fs) rs2131443885
NM_033305.3(VPS13A):c.5374G>T (p.Asp1792Tyr)
NM_033305.3(VPS13A):c.5394A>G (p.Arg1798=) rs1469118755
NM_033305.3(VPS13A):c.5397A>G (p.Pro1799=) rs752207144
NM_033305.3(VPS13A):c.5408G>A (p.Gly1803Asp) rs1357569109
NM_033305.3(VPS13A):c.540A>G (p.Gln180=)
NM_033305.3(VPS13A):c.5410A>G (p.Ile1804Val)
NM_033305.3(VPS13A):c.5415+10T>C
NM_033305.3(VPS13A):c.5415+11A>T
NM_033305.3(VPS13A):c.5415+13A>C
NM_033305.3(VPS13A):c.5415+19A>G
NM_033305.3(VPS13A):c.5415+19_5415+20del
NM_033305.3(VPS13A):c.5415+1G>C
NM_033305.3(VPS13A):c.5415+20T>C
NM_033305.3(VPS13A):c.5415+20TG[4]
NM_033305.3(VPS13A):c.5415+2T>A
NM_033305.3(VPS13A):c.5416-11T>C
NM_033305.3(VPS13A):c.5416-12T>A
NM_033305.3(VPS13A):c.5416-15G>A
NM_033305.3(VPS13A):c.5416-17A>G
NM_033305.3(VPS13A):c.5416-18T>C
NM_033305.3(VPS13A):c.5416-18T>G
NM_033305.3(VPS13A):c.5416-7A>G
NM_033305.3(VPS13A):c.5416-9T>C
NM_033305.3(VPS13A):c.5425_5428del (p.Lys1809fs)
NM_033305.3(VPS13A):c.543T>C (p.Asn181=)
NM_033305.3(VPS13A):c.5442T>C (p.Ile1814=)
NM_033305.3(VPS13A):c.5480del (p.Pro1827fs) rs1829725848
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) rs1829726014
NM_033305.3(VPS13A):c.5487T>C (p.Tyr1829=) rs2131448349
NM_033305.3(VPS13A):c.5494_5495del (p.Val1832fs)
NM_033305.3(VPS13A):c.5496_5497insT (p.Ile1833fs)
NM_033305.3(VPS13A):c.5497A>T (p.Ile1833Phe)
NM_033305.3(VPS13A):c.5505C>T (p.Phe1835=)
NM_033305.3(VPS13A):c.5511A>C (p.Ser1837=) rs2131448420
NM_033305.3(VPS13A):c.5517C>T (p.Asp1839=) rs2131448452
NM_033305.3(VPS13A):c.551_554del (p.Met184fs) rs1825930993
NM_033305.3(VPS13A):c.5520A>G (p.Gln1840=) rs1484656471
NM_033305.3(VPS13A):c.5522T>A (p.Leu1841Ter)
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.5532A>G (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.5532A>T (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.555+13T>C
NM_033305.3(VPS13A):c.555+14A>C
NM_033305.3(VPS13A):c.555+14A>G
NM_033305.3(VPS13A):c.555+18G>A
NM_033305.3(VPS13A):c.555+19A>C
NM_033305.3(VPS13A):c.555+20A>C
NM_033305.3(VPS13A):c.555+2T>A
NM_033305.3(VPS13A):c.555+4T>G
NM_033305.3(VPS13A):c.5553_5557dup (p.Leu1853Ter)
NM_033305.3(VPS13A):c.5559A>G (p.Leu1853=) rs2131448580
NM_033305.3(VPS13A):c.556-10del
NM_033305.3(VPS13A):c.556-10dup rs767393485
NM_033305.3(VPS13A):c.556-18del
NM_033305.3(VPS13A):c.556-20T>C
NM_033305.3(VPS13A):c.556-2A>G rs2131152462
NM_033305.3(VPS13A):c.556-8dup rs755223567
NM_033305.3(VPS13A):c.5562C>T (p.Asn1854=) rs2131448587
NM_033305.3(VPS13A):c.5567T>A (p.Leu1856Ter)
NM_033305.3(VPS13A):c.5574+12A>C
NM_033305.3(VPS13A):c.5574+13A>T
NM_033305.3(VPS13A):c.5574+15T>C
NM_033305.3(VPS13A):c.5574+1G>A rs1829731758
NM_033305.3(VPS13A):c.5574+1del
NM_033305.3(VPS13A):c.5574+20A>G
NM_033305.3(VPS13A):c.5574+9dup rs2131448647
NM_033305.3(VPS13A):c.5575-18A>G
NM_033305.3(VPS13A):c.5575-19C>T
NM_033305.3(VPS13A):c.5575-4T>C rs1829747353
NM_033305.3(VPS13A):c.5575-6T>C
NM_033305.3(VPS13A):c.5575-8C>T rs1829747225
NM_033305.3(VPS13A):c.5575-9T>C rs1829747100
NM_033305.3(VPS13A):c.558A>G (p.Thr186=) rs1251512982
NM_033305.3(VPS13A):c.5598A>G (p.Gly1866=) rs1283548917
NM_033305.3(VPS13A):c.5604A>G (p.Ser1868=) rs2131449461
NM_033305.3(VPS13A):c.5614G>A (p.Val1872Ile)
NM_033305.3(VPS13A):c.5616A>G (p.Val1872=)
NM_033305.3(VPS13A):c.5622T>C (p.Asp1874=)
NM_033305.3(VPS13A):c.5623C>T (p.Leu1875=)
NM_033305.3(VPS13A):c.5628A>G (p.Ala1876=)
NM_033305.3(VPS13A):c.5631A>G (p.Pro1877=) rs2131449606
NM_033305.3(VPS13A):c.5658del (p.Thr1887fs)
NM_033305.3(VPS13A):c.5663T>G (p.Ile1888Ser)
NM_033305.3(VPS13A):c.5664T>C (p.Ile1888=) rs2131449706
NM_033305.3(VPS13A):c.5672C>T (p.Ser1891Leu)
NM_033305.3(VPS13A):c.5673G>T (p.Ser1891=)
NM_033305.3(VPS13A):c.5696_5700del (p.Leu1899fs) rs1829753665
NM_033305.3(VPS13A):c.5697C>G (p.Leu1899=)
NM_033305.3(VPS13A):c.5700C>T (p.Asn1900=) rs984381701
NM_033305.3(VPS13A):c.5703T>C (p.Ile1901=)
NM_033305.3(VPS13A):c.570C>T (p.Tyr190=)
NM_033305.3(VPS13A):c.5715A>G (p.Lys1905=) rs2131450084
NM_033305.3(VPS13A):c.5718A>G (p.Ser1906=)
NM_033305.3(VPS13A):c.5724A>T (p.Val1908=)
NM_033305.3(VPS13A):c.5739A>G (p.Glu1913=)
NM_033305.3(VPS13A):c.5758A>G (p.Ile1920Val)
NM_033305.3(VPS13A):c.5761C>T (p.Arg1921Ter) rs1369905878
NM_033305.3(VPS13A):c.576T>A (p.Val192=)
NM_033305.3(VPS13A):c.5784C>T (p.Phe1928=) rs1564727473
NM_033305.3(VPS13A):c.5786del (p.Asn1929fs)
NM_033305.3(VPS13A):c.579A>C (p.Pro193=)
NM_033305.3(VPS13A):c.579A>G (p.Pro193=) rs2131152544
NM_033305.3(VPS13A):c.5814C>T (p.Leu1938=)
NM_033305.3(VPS13A):c.5817C>T (p.Phe1939=)
NM_033305.3(VPS13A):c.5824CTT[1] (p.Leu1943del)
NM_033305.3(VPS13A):c.5826T>G (p.Leu1942=) rs2131450519
NM_033305.3(VPS13A):c.5830+10T>C
NM_033305.3(VPS13A):c.5830+12A>G
NM_033305.3(VPS13A):c.5830+15A>G
NM_033305.3(VPS13A):c.5830+16A>G
NM_033305.3(VPS13A):c.5830+18del
NM_033305.3(VPS13A):c.5830+19A>G
NM_033305.3(VPS13A):c.5830+1G>A rs2131450525
NM_033305.3(VPS13A):c.5830+7A>T
NM_033305.3(VPS13A):c.5830+8G>C
NM_033305.3(VPS13A):c.5830+95TTTTTG[2] rs200975587
NM_033305.3(VPS13A):c.5831-10C>T
NM_033305.3(VPS13A):c.5831-10_5831-7del
NM_033305.3(VPS13A):c.5831-11A>G
NM_033305.3(VPS13A):c.5831-11dup
NM_033305.3(VPS13A):c.5831-15A>T
NM_033305.3(VPS13A):c.5831-3del
NM_033305.3(VPS13A):c.5831-7_5831-4del rs2131454504
NM_033305.3(VPS13A):c.5835T>A (p.Pro1945=)
NM_033305.3(VPS13A):c.5853T>C (p.Ala1951=)
NM_033305.3(VPS13A):c.5855A>C (p.Asp1952Ala)
NM_033305.3(VPS13A):c.5859G>A (p.Lys1953=) rs1241227691
NM_033305.3(VPS13A):c.5865T>A (p.Pro1955=) rs1829834727
NM_033305.3(VPS13A):c.5868A>G (p.Leu1956=) rs2131454614
NM_033305.3(VPS13A):c.5875G>A (p.Val1959Met)
NM_033305.3(VPS13A):c.5880A>T (p.Gly1960=)
NM_033305.3(VPS13A):c.5885G>A (p.Arg1962His)
NM_033305.3(VPS13A):c.5895T>C (p.Thr1965=)
NM_033305.3(VPS13A):c.5904_5907del (p.His1968fs) rs2131454714
NM_033305.3(VPS13A):c.5905dup (p.Arg1969fs)
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs) rs1251833565
NM_033305.3(VPS13A):c.5910G>A (p.Glu1970=)
NM_033305.3(VPS13A):c.5923A>C (p.Arg1975=) rs756768950
NM_033305.3(VPS13A):c.5928T>G (p.Ser1976=) rs1178123414
NM_033305.3(VPS13A):c.5930T>A (p.Ile1977Asn)
NM_033305.3(VPS13A):c.5931T>G (p.Ile1977Met)
NM_033305.3(VPS13A):c.5935dup (p.Cys1979fs)
NM_033305.3(VPS13A):c.5937T>C (p.Cys1979=)
NM_033305.3(VPS13A):c.5940A>G (p.Gln1980=)
NM_033305.3(VPS13A):c.5943T>C (p.Ile1981=) rs2131454823
NM_033305.3(VPS13A):c.5944G>C (p.Asp1982His)
NM_033305.3(VPS13A):c.5946T>C (p.Asp1982=)
NM_033305.3(VPS13A):c.5949A>T (p.Thr1983=)
NM_033305.3(VPS13A):c.5961T>G (p.Ser1987Arg)
NM_033305.3(VPS13A):c.5970C>T (p.Val1990=)
NM_033305.3(VPS13A):c.5982C>T (p.Ser1994=)
NM_033305.3(VPS13A):c.5985A>C (p.Pro1995=)
NM_033305.3(VPS13A):c.5989C>T (p.Gln1997Ter) rs2131455014
NM_033305.3(VPS13A):c.5991+10G>T
NM_033305.3(VPS13A):c.5991+13del
NM_033305.3(VPS13A):c.5991+14A>G
NM_033305.3(VPS13A):c.5991+15A>C
NM_033305.3(VPS13A):c.5991+15A>G
NM_033305.3(VPS13A):c.5991+15A>T
NM_033305.3(VPS13A):c.5991+201T>A rs73654013
NM_033305.3(VPS13A):c.5991+9T>C rs2131455065
NM_033305.3(VPS13A):c.5992-17T>C
NM_033305.3(VPS13A):c.5992-2A>T
NM_033305.3(VPS13A):c.5992-4C>G
NM_033305.3(VPS13A):c.5992-5C>T
NM_033305.3(VPS13A):c.5992-6T>C
NM_033305.3(VPS13A):c.5992-7T>C
NM_033305.3(VPS13A):c.5992-8T>C rs2131480789
NM_033305.3(VPS13A):c.6009A>G (p.Ser2003=)
NM_033305.3(VPS13A):c.6012C>T (p.Val2004=)
NM_033305.3(VPS13A):c.6015A>G (p.Pro2005=)
NM_033305.3(VPS13A):c.6015A>T (p.Pro2005=)
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=) rs201300715
NM_033305.3(VPS13A):c.6018G>C (p.Leu2006=) rs201300715
NM_033305.3(VPS13A):c.6018G>T (p.Leu2006=)
NM_033305.3(VPS13A):c.6019T>C (p.Ser2007Pro) rs866281197
NM_033305.3(VPS13A):c.6035A>G (p.Asp2012Gly)
NM_033305.3(VPS13A):c.6038C>G (p.Thr2013Ser)
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.6039C>G (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.6040T>C (p.Leu2014=) rs749897526
NM_033305.3(VPS13A):c.6048A>G (p.Gly2016=)
NM_033305.3(VPS13A):c.6057A>G (p.Ser2019=)
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.6060T>C (p.Pro2020=) rs1587601155
NM_033305.3(VPS13A):c.606G>A (p.Leu202=) rs1826055926
NM_033305.3(VPS13A):c.606G>C (p.Leu202=) rs1826055926
NM_033305.3(VPS13A):c.6075C>T (p.Asn2025=)
NM_033305.3(VPS13A):c.6079C>A (p.Pro2027Thr)
NM_033305.3(VPS13A):c.6079C>G (p.Pro2027Ala)
NM_033305.3(VPS13A):c.6082T>C (p.Leu2028=)
NM_033305.3(VPS13A):c.6095+14A>G
NM_033305.3(VPS13A):c.6095+14A>T
NM_033305.3(VPS13A):c.6095+15T>A
NM_033305.3(VPS13A):c.6095+18T>C
NM_033305.3(VPS13A):c.6095+1G>A rs1564735244
NM_033305.3(VPS13A):c.6096-12A>C
NM_033305.3(VPS13A):c.6096-16A>G
NM_033305.3(VPS13A):c.6096-17C>T
NM_033305.3(VPS13A):c.6096-256G>A rs7023646
NM_033305.3(VPS13A):c.6096-256G>T rs7023646
NM_033305.3(VPS13A):c.6096-5T>C rs759172543
NM_033305.3(VPS13A):c.6096-6A>G
NM_033305.3(VPS13A):c.6096-8T>C rs2131498345
NM_033305.3(VPS13A):c.6099A>G (p.Ser2033=) rs1830588981
NM_033305.3(VPS13A):c.6105T>C (p.Ile2035=)
NM_033305.3(VPS13A):c.6108T>C (p.Phe2036=)
NM_033305.3(VPS13A):c.6117A>G (p.Pro2039=)
NM_033305.3(VPS13A):c.6126G>A (p.Glu2042=)
NM_033305.3(VPS13A):c.615+10T>C
NM_033305.3(VPS13A):c.615+11A>G
NM_033305.3(VPS13A):c.615+12C>A
NM_033305.3(VPS13A):c.615+18T>G
NM_033305.3(VPS13A):c.615+8_615+11del rs778895810
NM_033305.3(VPS13A):c.6156T>G (p.Phe2052Leu)
NM_033305.3(VPS13A):c.616-14A>C
NM_033305.3(VPS13A):c.616-19T>C
NM_033305.3(VPS13A):c.6160G>T (p.Glu2054Ter)
NM_033305.3(VPS13A):c.6167T>C (p.Ile2056Thr)
NM_033305.3(VPS13A):c.6180T>C (p.Gly2060=)
NM_033305.3(VPS13A):c.6189A>G (p.Leu2063=) rs773061862
NM_033305.3(VPS13A):c.618A>G (p.Leu206=) rs2131153449
NM_033305.3(VPS13A):c.6198A>G (p.Lys2066=)
NM_033305.3(VPS13A):c.6208A>G (p.Lys2070Glu)
NM_033305.3(VPS13A):c.6213C>T (p.Asn2071=)
NM_033305.3(VPS13A):c.6214C>T (p.Pro2072Ser)
NM_033305.3(VPS13A):c.6219T>C (p.Ser2073=) rs2131498692
NM_033305.3(VPS13A):c.6220A>G (p.Lys2074Glu)
NM_033305.3(VPS13A):c.6225A>G (p.Glu2075=)
NM_033305.3(VPS13A):c.6249A>G (p.Pro2083=)
NM_033305.3(VPS13A):c.624A>G (p.Arg208=)
NM_033305.3(VPS13A):c.6251A>C (p.Glu2084Ala) rs2131498790
NM_033305.3(VPS13A):c.6253A>G (p.Lys2085Glu)
NM_033305.3(VPS13A):c.6254A>G (p.Lys2085Arg)
NM_033305.3(VPS13A):c.6272T>C (p.Leu2091Pro)
NM_033305.3(VPS13A):c.6272dup (p.Ser2092fs)
NM_033305.3(VPS13A):c.6279G>A (p.Val2093=)
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) rs1587612257
NM_033305.3(VPS13A):c.6284C>G (p.Ser2095Ter)
NM_033305.3(VPS13A):c.6288A>G (p.Glu2096=)
NM_033305.3(VPS13A):c.6306A>G (p.Pro2102=)
NM_033305.3(VPS13A):c.6308A>G (p.Tyr2103Cys)
NM_033305.3(VPS13A):c.6309C>T (p.Tyr2103=) rs2131499011
NM_033305.3(VPS13A):c.6317A>G (p.His2106Arg)
NM_033305.3(VPS13A):c.6327A>C (p.Pro2109=)
NM_033305.3(VPS13A):c.6330T>A (p.Pro2110=)
NM_033305.3(VPS13A):c.6333C>T (p.Ile2111=)
NM_033305.3(VPS13A):c.6336G>A (p.Leu2112=)
NM_033305.3(VPS13A):c.6341G>A (p.Arg2114Gln) rs367713644
NM_033305.3(VPS13A):c.6342A>C (p.Arg2114=)
NM_033305.3(VPS13A):c.634C>T (p.Leu212=)
NM_033305.3(VPS13A):c.6357C>A (p.Tyr2119Ter) rs2131499119
NM_033305.3(VPS13A):c.6357C>T (p.Tyr2119=) rs2131499119
NM_033305.3(VPS13A):c.6358A>T (p.Lys2120Ter) rs1409849850
NM_033305.3(VPS13A):c.636G>A (p.Leu212=) rs1017574389
NM_033305.3(VPS13A):c.6371A>G (p.Tyr2124Cys)
NM_033305.3(VPS13A):c.6378+10A>G rs553943819
NM_033305.3(VPS13A):c.6378+13T>A
NM_033305.3(VPS13A):c.6378+13T>C
NM_033305.3(VPS13A):c.6378+14G>T
NM_033305.3(VPS13A):c.6378+17T>G
NM_033305.3(VPS13A):c.6378+1G>A
NM_033305.3(VPS13A):c.6378+20G>A
NM_033305.3(VPS13A):c.6378+291TG[2] rs149097786
NM_033305.3(VPS13A):c.6379-10_6379-8del
NM_033305.3(VPS13A):c.6379-14T>C
NM_033305.3(VPS13A):c.6379-16T>G
NM_033305.3(VPS13A):c.6379-18T>G
NM_033305.3(VPS13A):c.6379-18_6379-17insG
NM_033305.3(VPS13A):c.6379-22_6379-19del rs1361042735
NM_033305.3(VPS13A):c.6379-28dup rs200451091
NM_033305.3(VPS13A):c.6379-2A>G
NM_033305.3(VPS13A):c.6379-4A>G
NM_033305.3(VPS13A):c.6379-6T>A
NM_033305.3(VPS13A):c.6379-7A>G rs759586753
NM_033305.3(VPS13A):c.6379-7dup rs2131504689
NM_033305.3(VPS13A):c.6379-8T>C
NM_033305.3(VPS13A):c.6379-9T>G
NM_033305.3(VPS13A):c.6392C>A (p.Ser2131Ter) rs1394368004
NM_033305.3(VPS13A):c.6399T>C (p.Phe2133=) rs2131504879
NM_033305.3(VPS13A):c.63C>T (p.Asp21=) rs2131030184
NM_033305.3(VPS13A):c.6405A>G (p.Leu2135=)
NM_033305.3(VPS13A):c.6408T>C (p.Ser2136=)
NM_033305.3(VPS13A):c.6411A>G (p.Glu2137=)
NM_033305.3(VPS13A):c.6420A>G (p.Ser2140=) rs2131504998
NM_033305.3(VPS13A):c.6422C>T (p.Ala2141Val)
NM_033305.3(VPS13A):c.6423C>A (p.Ala2141=) rs1830709857
NM_033305.3(VPS13A):c.6425A>G (p.Gln2142Arg)
NM_033305.3(VPS13A):c.6426G>A (p.Gln2142=)
NM_033305.3(VPS13A):c.6435T>C (p.Thr2145=)
NM_033305.3(VPS13A):c.6441G>A (p.Gln2147=) rs2131505082
NM_033305.3(VPS13A):c.6442T>C (p.Leu2148=) rs2131505090
NM_033305.3(VPS13A):c.6453C>G (p.Ala2151=)
NM_033305.3(VPS13A):c.6453C>T (p.Ala2151=) rs2131505119
NM_033305.3(VPS13A):c.6461A>G (p.His2154Arg)
NM_033305.3(VPS13A):c.6471A>G (p.Leu2157=)
NM_033305.3(VPS13A):c.647G>A (p.Trp216Ter) rs2131153571
NM_033305.3(VPS13A):c.6482_6483del (p.Leu2161fs) rs2131505194
NM_033305.3(VPS13A):c.6483C>A (p.Leu2161=)
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) rs1826073644
NM_033305.3(VPS13A):c.6501T>C (p.Ser2167=)
NM_033305.3(VPS13A):c.6517C>T (p.Pro2173Ser)
NM_033305.3(VPS13A):c.6531C>T (p.Asp2177=) rs1830714160
NM_033305.3(VPS13A):c.6552T>G (p.Thr2184=)
NM_033305.3(VPS13A):c.6555T>A (p.Cys2185Ter)
NM_033305.3(VPS13A):c.657G>A (p.Lys219=)
NM_033305.3(VPS13A):c.6581T>G (p.Leu2194Ter) rs1830715603
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) rs1057515657
NM_033305.3(VPS13A):c.6594C>A (p.Val2198=) rs2131505539
NM_033305.3(VPS13A):c.6601A>T (p.Thr2201Ser)
NM_033305.3(VPS13A):c.6606C>T (p.Tyr2202=) rs747701216
NM_033305.3(VPS13A):c.6606del (p.Thr2201_Tyr2202insTer)
NM_033305.3(VPS13A):c.6608A>G (p.Asn2203Ser) rs769295188
NM_033305.3(VPS13A):c.6615T>C (p.Gly2205=) rs2131505639
NM_033305.3(VPS13A):c.6616C>T (p.Gln2206Ter)
NM_033305.3(VPS13A):c.6617_6618insTA (p.Gln2206fs)
NM_033305.3(VPS13A):c.6621A>C (p.Thr2207=) rs2131505646
NM_033305.3(VPS13A):c.6621A>T (p.Thr2207=)
NM_033305.3(VPS13A):c.6627G>T (p.Val2209=) rs2131505683
NM_033305.3(VPS13A):c.6630A>G (p.Ala2210=)
NM_033305.3(VPS13A):c.6633dup (p.His2212fs) rs2131505712
NM_033305.3(VPS13A):c.6634C>T (p.His2212Tyr)
NM_033305.3(VPS13A):c.6639T>C (p.Ser2213=)
NM_033305.3(VPS13A):c.6645T>C (p.Tyr2215=)
NM_033305.3(VPS13A):c.6649A>G (p.Met2217Val)
NM_033305.3(VPS13A):c.6654C>T (p.Val2218=)
NM_033305.3(VPS13A):c.6663T>C (p.Thr2221=) rs1488048209
NM_033305.3(VPS13A):c.6667C>A (p.Arg2223Ser)
NM_033305.3(VPS13A):c.6669C>T (p.Arg2223=)
NM_033305.3(VPS13A):c.6675A>G (p.Leu2225=)
NM_033305.3(VPS13A):c.6678G>A (p.Gln2226=) rs1211978470
NM_033305.3(VPS13A):c.6691G>A (p.Gly2231Arg)
NM_033305.3(VPS13A):c.6693A>G (p.Gly2231=) rs755632398
NM_033305.3(VPS13A):c.6699T>C (p.His2233=) rs760655067
NM_033305.3(VPS13A):c.6699T>G (p.His2233Gln)
NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter)
NM_033305.3(VPS13A):c.6705G>A (p.Lys2235=)
NM_033305.3(VPS13A):c.6712C>T (p.Pro2238Ser)
NM_033305.3(VPS13A):c.6714T>G (p.Pro2238=)
NM_033305.3(VPS13A):c.6720T>C (p.Tyr2240=) rs2131506023
NM_033305.3(VPS13A):c.6725del (p.Lys2242fs)
NM_033305.3(VPS13A):c.6729A>G (p.Pro2243=) rs1310155003
NM_033305.3(VPS13A):c.6741T>A (p.Ser2247=)
NM_033305.3(VPS13A):c.6741_6745del (p.Phe2248fs)
NM_033305.3(VPS13A):c.6771_6773del (p.Asn2257del)
NM_033305.3(VPS13A):c.6774+10G>A
NM_033305.3(VPS13A):c.6774+13dup
NM_033305.3(VPS13A):c.6774+16T>C
NM_033305.3(VPS13A):c.6774+17C>G
NM_033305.3(VPS13A):c.6774+1G>A
NM_033305.3(VPS13A):c.6774+2T>C rs2131506184
NM_033305.3(VPS13A):c.6774+7_6774+17del
NM_033305.3(VPS13A):c.6774+8A>G rs2131506240
NM_033305.3(VPS13A):c.6775-10T>G
NM_033305.3(VPS13A):c.6775-12T>A
NM_033305.3(VPS13A):c.6775-12T>C
NM_033305.3(VPS13A):c.6775-13A>C
NM_033305.3(VPS13A):c.6775-13A>G
NM_033305.3(VPS13A):c.6775-13del
NM_033305.3(VPS13A):c.6775-15A>G
NM_033305.3(VPS13A):c.6775-18G>A
NM_033305.3(VPS13A):c.6775-6T>C
NM_033305.3(VPS13A):c.6775-8T>C rs2131507141
NM_033305.3(VPS13A):c.6778C>G (p.Gln2260Glu)
NM_033305.3(VPS13A):c.6792T>A (p.Thr2264=)
NM_033305.3(VPS13A):c.6792T>C (p.Thr2264=) rs771883341
NM_033305.3(VPS13A):c.6792T>G (p.Thr2264=)
NM_033305.3(VPS13A):c.6792_6799dup (p.Glu2267fs)
NM_033305.3(VPS13A):c.6797G>C (p.Ser2266Thr)
NM_033305.3(VPS13A):c.6798T>C (p.Ser2266=) rs2131507286
NM_033305.3(VPS13A):c.6816T>C (p.Phe2272=) rs2131507338
NM_033305.3(VPS13A):c.6819A>G (p.Ser2273=) rs2131507354
NM_033305.3(VPS13A):c.681T>C (p.Asp227=) rs2131153699
NM_033305.3(VPS13A):c.6820A>G (p.Ile2274Val)
NM_033305.3(VPS13A):c.6828T>C (p.Thr2276=) rs2131507374
NM_033305.3(VPS13A):c.6829G>A (p.Val2277Ile) rs1247708553
NM_033305.3(VPS13A):c.6841G>T (p.Gly2281Ter) rs1409058629
NM_033305.3(VPS13A):c.6849T>C (p.Val2283=)
NM_033305.3(VPS13A):c.6859G>C (p.Gly2287Arg)
NM_033305.3(VPS13A):c.6862C>T (p.Leu2288=)
NM_033305.3(VPS13A):c.6867A>T (p.Lys2289Asn) rs2131507554
NM_033305.3(VPS13A):c.6873C>T (p.Asp2291=)
NM_033305.3(VPS13A):c.6876_6877del (p.Tyr2292_Gln2293delinsTer)
NM_033305.3(VPS13A):c.6877C>T (p.Gln2293Ter) rs2131507600
NM_033305.3(VPS13A):c.6879+10T>A
NM_033305.3(VPS13A):c.6879+10T>C rs1259414902
NM_033305.3(VPS13A):c.6879+15T>G
NM_033305.3(VPS13A):c.6879+16G>A
NM_033305.3(VPS13A):c.6879+19T>G
NM_033305.3(VPS13A):c.6879+7_6879+8insTTT rs1337510689
NM_033305.3(VPS13A):c.6880-10T>G rs2131508064
NM_033305.3(VPS13A):c.6880-16A>T
NM_033305.3(VPS13A):c.6880-18T>C
NM_033305.3(VPS13A):c.6880-5_6880-3del rs2131508071
NM_033305.3(VPS13A):c.6880-6T>C
NM_033305.3(VPS13A):c.6880-6del
NM_033305.3(VPS13A):c.6880-6dup rs140476942
NM_033305.3(VPS13A):c.6880-7T>C
NM_033305.3(VPS13A):c.6915T>C (p.Ile2305=) rs1384091428
NM_033305.3(VPS13A):c.6915del (p.Thr2306fs)
NM_033305.3(VPS13A):c.6918T>C (p.Thr2306=)
NM_033305.3(VPS13A):c.6936C>A (p.Thr2312=)
NM_033305.3(VPS13A):c.693C>A (p.Ser231=)
NM_033305.3(VPS13A):c.693C>T (p.Ser231=) rs1489299609
NM_033305.3(VPS13A):c.6942T>C (p.Phe2314=)
NM_033305.3(VPS13A):c.696+15dup
NM_033305.3(VPS13A):c.696+18G>C
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+20A>T
NM_033305.3(VPS13A):c.696+286A>G rs72742574
NM_033305.3(VPS13A):c.696+2T>G rs2131153753
NM_033305.3(VPS13A):c.696+8A>T rs2131153789
NM_033305.3(VPS13A):c.6969C>A (p.Tyr2323Ter)
NM_033305.3(VPS13A):c.697-10C>G
NM_033305.3(VPS13A):c.697-10C>T
NM_033305.3(VPS13A):c.697-15T>C
NM_033305.3(VPS13A):c.697-16A>G
NM_033305.3(VPS13A):c.697-18C>T
NM_033305.3(VPS13A):c.697-236T>C rs151150023
NM_033305.3(VPS13A):c.697-5A>G
NM_033305.3(VPS13A):c.6971A>G (p.His2324Arg)
NM_033305.3(VPS13A):c.6978A>T (p.Ser2326=)
NM_033305.3(VPS13A):c.6978_6981dup (p.Ala2328fs)
NM_033305.3(VPS13A):c.7000A>G (p.Lys2334Glu)
NM_033305.3(VPS13A):c.7002A>G (p.Lys2334=) rs1173967155
NM_033305.3(VPS13A):c.7005G>A (p.Trp2335Ter) rs1563939611
NM_033305.3(VPS13A):c.7008C>G (p.Leu2336=)
NM_033305.3(VPS13A):c.7011T>C (p.Ser2337=) rs149134781
NM_033305.3(VPS13A):c.7011T>G (p.Ser2337=)
NM_033305.3(VPS13A):c.7012_7013del (p.Ser2337_Leu2338insTer) rs1563939617
NM_033305.3(VPS13A):c.7018T>C (p.Leu2340=) rs2131508408
NM_033305.3(VPS13A):c.7026+10T>A
NM_033305.3(VPS13A):c.7026+11G>A
NM_033305.3(VPS13A):c.7026+19A>G
NM_033305.3(VPS13A):c.7026+9A>C
NM_033305.3(VPS13A):c.7027-16A>G
NM_033305.3(VPS13A):c.7027-17T>C
NM_033305.3(VPS13A):c.7027-19T>C
NM_033305.3(VPS13A):c.7027-20A>G
NM_033305.3(VPS13A):c.7035del (p.Trp2347fs)
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7044T>C (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7050T>C (p.Tyr2350=)
NM_033305.3(VPS13A):c.7051G>A (p.Ala2351Thr)
NM_033305.3(VPS13A):c.7054T>C (p.Ser2352Pro)
NM_033305.3(VPS13A):c.705G>A (p.Leu235=)
NM_033305.3(VPS13A):c.7071T>C (p.Ile2357=)
NM_033305.3(VPS13A):c.7072C>T (p.Gln2358Ter) rs981025037
NM_033305.3(VPS13A):c.7078G>T (p.Glu2360Ter)
NM_033305.3(VPS13A):c.7096_7112dup (p.Asn2372fs)
NM_033305.3(VPS13A):c.7098C>G (p.Pro2366=)
NM_033305.3(VPS13A):c.7102A>C (p.Arg2368=) rs1459527520
NM_033305.3(VPS13A):c.7105A>T (p.Ile2369Leu)
NM_033305.3(VPS13A):c.7109A>G (p.Tyr2370Cys)
NM_033305.3(VPS13A):c.7116C>T (p.Asn2372=) rs768898784
NM_033305.3(VPS13A):c.7117A>C (p.Lys2373Gln)
NM_033305.3(VPS13A):c.7119G>A (p.Lys2373=)
NM_033305.3(VPS13A):c.7141C>T (p.Arg2381Cys)
NM_033305.3(VPS13A):c.7146A>G (p.Leu2382=)
NM_033305.3(VPS13A):c.7154_7155insAGTA (p.Leu2386fs) rs778985780
NM_033305.3(VPS13A):c.7155+10T>C
NM_033305.3(VPS13A):c.7155+13T>G
NM_033305.3(VPS13A):c.7155+14del rs747383490
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7155+18T>C
NM_033305.3(VPS13A):c.7155+1del rs753100746
NM_033305.3(VPS13A):c.7155+21dup
NM_033305.3(VPS13A):c.7156-10T>C
NM_033305.3(VPS13A):c.7156-11C>G
NM_033305.3(VPS13A):c.7156-12T>C
NM_033305.3(VPS13A):c.7156-17C>G
NM_033305.3(VPS13A):c.7156-17C>T
NM_033305.3(VPS13A):c.7156-18T>C
NM_033305.3(VPS13A):c.7156-1G>C
NM_033305.3(VPS13A):c.7156-20T>C
NM_033305.3(VPS13A):c.7156-234del rs375699491
NM_033305.3(VPS13A):c.7156-2A>T rs1587628060
NM_033305.3(VPS13A):c.7156-4C>G
NM_033305.3(VPS13A):c.7156-8_7156-5del
NM_033305.3(VPS13A):c.7164T>C (p.Gly2388=)
NM_033305.3(VPS13A):c.7165A>G (p.Ile2389Val)
NM_033305.3(VPS13A):c.7176A>G (p.Glu2392=) rs758415150
NM_033305.3(VPS13A):c.7179G>T (p.Val2393=) rs779653365
NM_033305.3(VPS13A):c.717T>C (p.Ile239=)
NM_033305.3(VPS13A):c.7183T>C (p.Leu2395=)
NM_033305.3(VPS13A):c.7188C>A (p.Ala2396=)
NM_033305.3(VPS13A):c.7193A>G (p.His2398Arg)
NM_033305.3(VPS13A):c.7197T>C (p.Ser2399=) rs771436974
NM_033305.3(VPS13A):c.7201G>A (p.Val2401Ile)
NM_033305.3(VPS13A):c.7207A>G (p.Thr2403Ala)
NM_033305.3(VPS13A):c.7209A>C (p.Thr2403=) rs2131523827
NM_033305.3(VPS13A):c.7209A>G (p.Thr2403=)
NM_033305.3(VPS13A):c.720C>A (p.Val240=) rs1564635742
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
NM_033305.3(VPS13A):c.7226A>G (p.Asp2409Gly)
NM_033305.3(VPS13A):c.7242C>T (p.Phe2414=)
NM_033305.3(VPS13A):c.7245C>T (p.Leu2415=)
NM_033305.3(VPS13A):c.7253A>G (p.Asn2418Ser)
NM_033305.3(VPS13A):c.7253del (p.Asn2418fs)
NM_033305.3(VPS13A):c.7260A>G (p.Thr2420=)
NM_033305.3(VPS13A):c.7263G>A (p.Lys2421=) rs1215403260
NM_033305.3(VPS13A):c.7265A>G (p.Asn2422Ser)
NM_033305.3(VPS13A):c.7269A>G (p.Glu2423=)
NM_033305.3(VPS13A):c.7281C>T (p.Tyr2427=) rs2131524003
NM_033305.3(VPS13A):c.7289+11C>T
NM_033305.3(VPS13A):c.7289+14A>C
NM_033305.3(VPS13A):c.7289+18A>G
NM_033305.3(VPS13A):c.7289+19C>G
NM_033305.3(VPS13A):c.7289+6A>C
NM_033305.3(VPS13A):c.7289+7T>C
NM_033305.3(VPS13A):c.7289+8T>G
NM_033305.3(VPS13A):c.7290-10A>C rs777376932
NM_033305.3(VPS13A):c.7290-1G>C rs2131540817
NM_033305.3(VPS13A):c.7290-7G>A rs2131540796
NM_033305.3(VPS13A):c.7290-8T>C rs2131540792
NM_033305.3(VPS13A):c.7295T>C (p.Leu2432Pro)
NM_033305.3(VPS13A):c.7296C>A (p.Leu2432=)
NM_033305.3(VPS13A):c.72G>A (p.Thr24=)
NM_033305.3(VPS13A):c.72dup (p.Ser25fs) rs2131030226
NM_033305.3(VPS13A):c.7301A>T (p.Glu2434Val)
NM_033305.3(VPS13A):c.730A>G (p.Ile244Val)
NM_033305.3(VPS13A):c.7314C>T (p.Ser2438=) rs200167890
NM_033305.3(VPS13A):c.7325_7333del (p.Gly2442_Ala2444del)
NM_033305.3(VPS13A):c.732T>C (p.Ile244=) rs1822730257
NM_033305.3(VPS13A):c.7339dup (p.Tyr2447fs) rs1419127345
NM_033305.3(VPS13A):c.7341T>C (p.Tyr2447=) rs2131540943
NM_033305.3(VPS13A):c.7344A>G (p.Thr2448=) rs762182321
NM_033305.3(VPS13A):c.7347G>A (p.Trp2449Ter)
NM_033305.3(VPS13A):c.7366A>C (p.Arg2456=)
NM_033305.3(VPS13A):c.7368A>G (p.Arg2456=)
NM_033305.3(VPS13A):c.7369dup (p.Arg2457fs) rs1831457676
NM_033305.3(VPS13A):c.7374G>A (p.Leu2458=) rs2131541024
NM_033305.3(VPS13A):c.7383A>G (p.Arg2461=)
NM_033305.3(VPS13A):c.7386T>C (p.Cys2462=)
NM_033305.3(VPS13A):c.738A>G (p.Pro246=)
NM_033305.3(VPS13A):c.7395C>T (p.Ser2465=)
NM_033305.3(VPS13A):c.7398T>C (p.His2466=) rs1831459105
NM_033305.3(VPS13A):c.7405G>A (p.Val2469Ile) rs138388433
NM_033305.3(VPS13A):c.7413G>A (p.Gln2471=) rs373921631
NM_033305.3(VPS13A):c.7419+12G>A
NM_033305.3(VPS13A):c.7419+18A>G
NM_033305.3(VPS13A):c.7419+19T>C
NM_033305.3(VPS13A):c.7419+1G>A rs763654348
NM_033305.3(VPS13A):c.7419+8T>A rs2131541144
NM_033305.3(VPS13A):c.7420-10T>C rs1195403389
NM_033305.3(VPS13A):c.7420-12G>T
NM_033305.3(VPS13A):c.7420-17dup rs368165342
NM_033305.3(VPS13A):c.7420-18_7420-17dup rs368165342
NM_033305.3(VPS13A):c.7420-4C>T rs764829121
NM_033305.3(VPS13A):c.7420-5dup
NM_033305.3(VPS13A):c.7420-9T>G
NM_033305.3(VPS13A):c.7422T>C (p.Asp2474=) rs2131546084
NM_033305.3(VPS13A):c.7440T>C (p.Asp2480=)
NM_033305.3(VPS13A):c.7441T>G (p.Leu2481Val)
NM_033305.3(VPS13A):c.7446G>T (p.Gly2482=) rs748257173
NM_033305.3(VPS13A):c.7448A>G (p.Glu2483Gly)
NM_033305.3(VPS13A):c.7449A>G (p.Glu2483=) rs2131546174
NM_033305.3(VPS13A):c.7452G>A (p.Lys2484=)
NM_033305.3(VPS13A):c.7455A>G (p.Thr2485=)
NM_033305.3(VPS13A):c.7464A>G (p.Leu2488=) rs2131546244
NM_033305.3(VPS13A):c.7476T>G (p.Phe2492Leu)
NM_033305.3(VPS13A):c.7482T>A (p.Gly2494=) rs2131546302
NM_033305.3(VPS13A):c.7485A>G (p.Leu2495=) rs761283073
NM_033305.3(VPS13A):c.7486C>T (p.Gln2496Ter) rs1191270963
NM_033305.3(VPS13A):c.7500A>G (p.Leu2500=) rs2131546363
NM_033305.3(VPS13A):c.7509A>G (p.Glu2503=) rs768165898
NM_033305.3(VPS13A):c.7518G>A (p.Arg2506=)
NM_033305.3(VPS13A):c.7535_7536del (p.Thr2511_Tyr2512insTer) rs2131546441
NM_033305.3(VPS13A):c.7539A>G (p.Glu2513=) rs2131546454
NM_033305.3(VPS13A):c.753dup (p.Val252fs)
NM_033305.3(VPS13A):c.754+12T>G rs1276770332
NM_033305.3(VPS13A):c.754+13del
NM_033305.3(VPS13A):c.754+16A>C
NM_033305.3(VPS13A):c.754+16A>G
NM_033305.3(VPS13A):c.754+1G>T
NM_033305.3(VPS13A):c.754+9A>G
NM_033305.3(VPS13A):c.755-12A>T
NM_033305.3(VPS13A):c.755-18A>G
NM_033305.3(VPS13A):c.755-2A>G
NM_033305.3(VPS13A):c.7551A>C (p.Ala2517=) rs1831593364
NM_033305.3(VPS13A):c.7554G>A (p.Glu2518=)
NM_033305.3(VPS13A):c.7557A>G (p.Leu2519=)
NM_033305.3(VPS13A):c.756A>G (p.Val252=) rs1245572325
NM_033305.3(VPS13A):c.7572T>C (p.Ile2524=) rs1587644390
NM_033305.3(VPS13A):c.7581A>G (p.Ala2527=) rs2131546548
NM_033305.3(VPS13A):c.7581A>T (p.Ala2527=)
NM_033305.3(VPS13A):c.7584A>G (p.Leu2528=)
NM_033305.3(VPS13A):c.7585del (p.Gln2529fs)
NM_033305.3(VPS13A):c.7596A>C (p.Gly2532=)
NM_033305.3(VPS13A):c.75C>T (p.Ser25=)
NM_033305.3(VPS13A):c.7602T>C (p.Ser2534=) rs2131546603
NM_033305.3(VPS13A):c.760C>T (p.Arg254Cys)
NM_033305.3(VPS13A):c.7619C>T (p.Thr2540Met)
NM_033305.3(VPS13A):c.7623G>A (p.Lys2541=) rs766148952
NM_033305.3(VPS13A):c.7637A>T (p.Tyr2546Phe)
NM_033305.3(VPS13A):c.7638dup (p.Ile2547fs)
NM_033305.3(VPS13A):c.7652+13A>C
NM_033305.3(VPS13A):c.7652+13A>G
NM_033305.3(VPS13A):c.7652+14A>C
NM_033305.3(VPS13A):c.7652+19del
NM_033305.3(VPS13A):c.7652+1G>A
NM_033305.3(VPS13A):c.7652+7T>G rs1587644532
NM_033305.3(VPS13A):c.7652+9C>G
NM_033305.3(VPS13A):c.7653-11T>C
NM_033305.3(VPS13A):c.7653-208C>T rs1327544
NM_033305.3(VPS13A):c.7653-7A>C rs1308688691
NM_033305.3(VPS13A):c.7659T>C (p.Asp2553=)
NM_033305.3(VPS13A):c.765C>T (p.Pro255=)
NM_033305.3(VPS13A):c.7674A>G (p.Thr2558=)
NM_033305.3(VPS13A):c.7674A>T (p.Thr2558=)
NM_033305.3(VPS13A):c.7677G>A (p.Lys2559=)
NM_033305.3(VPS13A):c.7680C>G (p.Pro2560=)
NM_033305.3(VPS13A):c.7680C>T (p.Pro2560=) rs747966728
NM_033305.3(VPS13A):c.768A>T (p.Ile256=) rs1392635234
NM_033305.3(VPS13A):c.7701G>A (p.Lys2567=)
NM_033305.3(VPS13A):c.7719C>T (p.His2573=)
NM_033305.3(VPS13A):c.7731A>G (p.Leu2577=)
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.7749A>G (p.Glu2583=)
NM_033305.3(VPS13A):c.7765_7767del (p.Pro2589del)
NM_033305.3(VPS13A):c.7782T>C (p.Val2594=) rs1587650246
NM_033305.3(VPS13A):c.7804C>G (p.Pro2602Ala)
NM_033305.3(VPS13A):c.7806+11T>G
NM_033305.3(VPS13A):c.7806+19G>C
NM_033305.3(VPS13A):c.7806+1G>A
NM_033305.3(VPS13A):c.7806+7T>C
NM_033305.3(VPS13A):c.7806+8T>A
NM_033305.3(VPS13A):c.7806G>A (p.Pro2602=)
NM_033305.3(VPS13A):c.7807-11A>G
NM_033305.3(VPS13A):c.7807-14del
NM_033305.3(VPS13A):c.7807-19G>C
NM_033305.3(VPS13A):c.7807-19G>T
NM_033305.3(VPS13A):c.7807-327_7807-318dup rs576579455
NM_033305.3(VPS13A):c.7809T>C (p.Val2603=)
NM_033305.3(VPS13A):c.7810C>T (p.Arg2604Cys)
NM_033305.3(VPS13A):c.7811_7814dup (p.Thr2606fs) rs2131556360
NM_033305.3(VPS13A):c.7815A>G (p.Leu2605=)
NM_033305.3(VPS13A):c.7818C>G (p.Thr2606=)
NM_033305.3(VPS13A):c.7822A>G (p.Thr2608Ala) rs1298057938
NM_033305.3(VPS13A):c.7824T>C (p.Thr2608=)
NM_033305.3(VPS13A):c.7837A>G (p.Lys2613Glu)
NM_033305.3(VPS13A):c.7851G>T (p.Pro2617=) rs753711996
NM_033305.3(VPS13A):c.7867C>A (p.Arg2623=)
NM_033305.3(VPS13A):c.7869A>G (p.Arg2623=) rs2131556527
NM_033305.3(VPS13A):c.7878T>C (p.Tyr2626=)
NM_033305.3(VPS13A):c.787G>T (p.Val263Leu)
NM_033305.3(VPS13A):c.7881T>C (p.Leu2627=) rs2131556546
NM_033305.3(VPS13A):c.7887A>C (p.Ala2629=)
NM_033305.3(VPS13A):c.7899A>G (p.Glu2633=) rs2131556585
NM_033305.3(VPS13A):c.78dup (p.Leu27fs) rs2131030277
NM_033305.3(VPS13A):c.7905C>G (p.Asn2635Lys)
NM_033305.3(VPS13A):c.7913C>T (p.Ala2638Val)
NM_033305.3(VPS13A):c.7914A>C (p.Ala2638=)
NM_033305.3(VPS13A):c.7914A>T (p.Ala2638=) rs1831900798
NM_033305.3(VPS13A):c.7929T>C (p.Phe2643=) rs1329855562
NM_033305.3(VPS13A):c.7932A>G (p.Arg2644=) rs778227258
NM_033305.3(VPS13A):c.7938G>A (p.Gln2646=) rs2131556696
NM_033305.3(VPS13A):c.7945A>G (p.Arg2649Gly)
NM_033305.3(VPS13A):c.7947A>G (p.Arg2649=)
NM_033305.3(VPS13A):c.7950A>C (p.Ile2650=) rs1341166427
NM_033305.3(VPS13A):c.7953+11C>G
NM_033305.3(VPS13A):c.7953+134_7953+135dup rs5898534
NM_033305.3(VPS13A):c.7953+135dup rs5898534
NM_033305.3(VPS13A):c.7953+16A>T
NM_033305.3(VPS13A):c.7953+17A>C
NM_033305.3(VPS13A):c.7953+19A>C
NM_033305.3(VPS13A):c.7953+19A>G
NM_033305.3(VPS13A):c.7953+20T>C
NM_033305.3(VPS13A):c.7954-11del
NM_033305.3(VPS13A):c.7954-17T>G
NM_033305.3(VPS13A):c.7954-19T>C
NM_033305.3(VPS13A):c.7954-200T>A rs143971072
NM_033305.3(VPS13A):c.7954-20A>T
NM_033305.3(VPS13A):c.7954-4T>C
NM_033305.3(VPS13A):c.7954-9T>C rs2131558278
NM_033305.3(VPS13A):c.7958A>C (p.Gln2653Pro)
NM_033305.3(VPS13A):c.7969C>T (p.His2657Tyr)
NM_033305.3(VPS13A):c.7977T>G (p.Ala2659=)
NM_033305.3(VPS13A):c.7980A>G (p.Val2660=) rs2131558348
NM_033305.3(VPS13A):c.7986C>G (p.Pro2662=) rs1456919696
NM_033305.3(VPS13A):c.7989T>C (p.Phe2663=) rs2131558374
NM_033305.3(VPS13A):c.7992G>A (p.Val2664=)
NM_033305.3(VPS13A):c.8009C>T (p.Pro2670Leu) rs1362143170
NM_033305.3(VPS13A):c.8018C>T (p.Ser2673Leu)
NM_033305.3(VPS13A):c.801A>C (p.Arg267=)
NM_033305.3(VPS13A):c.8025C>G (p.Thr2675=)
NM_033305.3(VPS13A):c.8025C>T (p.Thr2675=)
NM_033305.3(VPS13A):c.8029_8035+5del
NM_033305.3(VPS13A):c.8035+10del rs1214693561
NM_033305.3(VPS13A):c.8035+12T>C
NM_033305.3(VPS13A):c.8035+12_8035+17del rs1438384695
NM_033305.3(VPS13A):c.8035+17A>T
NM_033305.3(VPS13A):c.8036-12T>C
NM_033305.3(VPS13A):c.8036-18T>C
NM_033305.3(VPS13A):c.8036-19A>C
NM_033305.3(VPS13A):c.8036-1G>A
NM_033305.3(VPS13A):c.8036-7T>C
NM_033305.3(VPS13A):c.8036-8C>T rs2131560442
NM_033305.3(VPS13A):c.8036-9C>T
NM_033305.3(VPS13A):c.8040A>G (p.Pro2680=)
NM_033305.3(VPS13A):c.8046_8049del (p.Phe2683fs)
NM_033305.3(VPS13A):c.8067C>A (p.Val2689=)
NM_033305.3(VPS13A):c.8067C>T (p.Val2689=)
NM_033305.3(VPS13A):c.8070G>A (p.Met2690Ile)
NM_033305.3(VPS13A):c.8085T>C (p.His2695=)
NM_033305.3(VPS13A):c.8105+14T>C
NM_033305.3(VPS13A):c.8105+15A>G
NM_033305.3(VPS13A):c.8105+17A>G
NM_033305.3(VPS13A):c.8105+1G>A rs1293371764
NM_033305.3(VPS13A):c.8105+7G>T
NM_033305.3(VPS13A):c.8105+9C>G rs2131560612
NM_033305.3(VPS13A):c.8106-15T>C
NM_033305.3(VPS13A):c.8106-2A>G
NM_033305.3(VPS13A):c.8106-7A>G
NM_033305.3(VPS13A):c.8115A>G (p.Lys2705=) rs2131563560
NM_033305.3(VPS13A):c.8115dup (p.Val2706fs)
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
NM_033305.3(VPS13A):c.8127A>G (p.Gln2709=)
NM_033305.3(VPS13A):c.8137C>G (p.Leu2713Val)
NM_033305.3(VPS13A):c.8145A>G (p.Leu2715=) rs1563958403
NM_033305.3(VPS13A):c.8148T>C (p.Asp2716=)
NM_033305.3(VPS13A):c.8151T>C (p.Leu2717=) rs1587657525
NM_033305.3(VPS13A):c.8166_8168dup (p.Ala2722_Leu2723insPhe)
NM_033305.3(VPS13A):c.8182A>G (p.Thr2728Ala)
NM_033305.3(VPS13A):c.8184A>G (p.Thr2728=) rs1832089569
NM_033305.3(VPS13A):c.8189C>T (p.Ala2730Val)
NM_033305.3(VPS13A):c.8190T>C (p.Ala2730=) rs2131563751
NM_033305.3(VPS13A):c.8192del (p.Glu2731fs)
NM_033305.3(VPS13A):c.8196G>C (p.Val2732=)
NM_033305.3(VPS13A):c.8199T>C (p.Thr2733=)
NM_033305.3(VPS13A):c.8209G>T (p.Glu2737Ter) rs1057520049
NM_033305.3(VPS13A):c.8211+12_8211+16del
NM_033305.3(VPS13A):c.8211+13A>G
NM_033305.3(VPS13A):c.8211+3_8211+8dup rs2131563779
NM_033305.3(VPS13A):c.8211+7_8211+10del
NM_033305.3(VPS13A):c.8211+9del rs752070804
NM_033305.3(VPS13A):c.8212-13G>T
NM_033305.3(VPS13A):c.8212-16T>A
NM_033305.3(VPS13A):c.8212-20A>G
NM_033305.3(VPS13A):c.8212-9C>T
NM_033305.3(VPS13A):c.8217G>A (p.Glu2739=)
NM_033305.3(VPS13A):c.8232T>C (p.Asp2744=)
NM_033305.3(VPS13A):c.8243_8250del (p.Ala2747_Phe2748insTer)
NM_033305.3(VPS13A):c.8265C>T (p.Ala2755=)
NM_033305.3(VPS13A):c.8268A>G (p.Ser2756=) rs1587667026
NM_033305.3(VPS13A):c.8277T>C (p.Asp2759=)
NM_033305.3(VPS13A):c.8280A>G (p.Gln2760=)
NM_033305.3(VPS13A):c.8286A>G (p.Gln2762=) rs2131577799
NM_033305.3(VPS13A):c.8289C>T (p.Val2763=)
NM_033305.3(VPS13A):c.8292C>T (p.Ser2764=) rs759909043
NM_033305.3(VPS13A):c.8301del (p.Glu2767fs) rs2131577839
NM_033305.3(VPS13A):c.8302del (p.Tyr2768fs)
NM_033305.3(VPS13A):c.8311A>G (p.Ile2771Val)
NM_033305.3(VPS13A):c.8316T>A (p.Ser2772=)
NM_033305.3(VPS13A):c.8325+13C>G
NM_033305.3(VPS13A):c.8325+17T>G
NM_033305.3(VPS13A):c.8325+18T>C
NM_033305.3(VPS13A):c.8325+18_8325+19del
NM_033305.3(VPS13A):c.8325+1G>T
NM_033305.3(VPS13A):c.8326-10A>G rs776064733
NM_033305.3(VPS13A):c.8326-12T>A
NM_033305.3(VPS13A):c.8326-12T>C
NM_033305.3(VPS13A):c.8326-12T>G
NM_033305.3(VPS13A):c.8326-12_8326-11del
NM_033305.3(VPS13A):c.8326-13T>G
NM_033305.3(VPS13A):c.8326-14C>A
NM_033305.3(VPS13A):c.8326-14C>G
NM_033305.3(VPS13A):c.8326-14_8326-11del
NM_033305.3(VPS13A):c.8326-18A>T
NM_033305.3(VPS13A):c.8326-311C>G rs17063567
NM_033305.3(VPS13A):c.8326-9T>C rs377207319
NM_033305.3(VPS13A):c.8331T>C (p.His2777=) rs1587669020
NM_033305.3(VPS13A):c.8337T>C (p.Ser2779=)
NM_033305.3(VPS13A):c.8341T>A (p.Ser2781Thr)
NM_033305.3(VPS13A):c.8341dup (p.Ser2781fs) rs2131580177
NM_033305.3(VPS13A):c.834C>T (p.Asn278=)
NM_033305.3(VPS13A):c.8357G>C (p.Arg2786Thr)
NM_033305.3(VPS13A):c.8358A>G (p.Arg2786=)
NM_033305.3(VPS13A):c.8361A>G (p.Glu2787=)
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033305.3(VPS13A):c.8376A>C (p.Ser2792=) rs2131580265
NM_033305.3(VPS13A):c.8377A>C (p.Lys2793Gln)
NM_033305.3(VPS13A):c.8382A>G (p.Gln2794=)
NM_033305.3(VPS13A):c.8390del (p.Gly2797fs) rs748941459
NM_033305.3(VPS13A):c.8391A>G (p.Gly2797=) rs2131580309
NM_033305.3(VPS13A):c.8392C>T (p.Leu2798=) rs2131580311
NM_033305.3(VPS13A):c.8395A>G (p.Ile2799Val)
NM_033305.3(VPS13A):c.8404C>T (p.His2802Tyr)
NM_033305.3(VPS13A):c.8418T>G (p.Leu2806=)
NM_033305.3(VPS13A):c.8443C>T (p.Leu2815=) rs2131580374
NM_033305.3(VPS13A):c.8448A>C (p.Thr2816=) rs2131580385
NM_033305.3(VPS13A):c.8448A>G (p.Thr2816=)
NM_033305.3(VPS13A):c.8451T>C (p.Asp2817=)
NM_033305.3(VPS13A):c.8466T>G (p.Val2822=) rs2131580439
NM_033305.3(VPS13A):c.8471+10G>A
NM_033305.3(VPS13A):c.8471+12A>G
NM_033305.3(VPS13A):c.8471+13T>C
NM_033305.3(VPS13A):c.8471+17A>C
NM_033305.3(VPS13A):c.8471+1G>A
NM_033305.3(VPS13A):c.8471_8471+3del
NM_033305.3(VPS13A):c.8472-10C>T
NM_033305.3(VPS13A):c.8472-11G>A
NM_033305.3(VPS13A):c.8472-11G>C
NM_033305.3(VPS13A):c.8472-11G>T rs1281741862
NM_033305.3(VPS13A):c.8472-152T>C rs118113685
NM_033305.3(VPS13A):c.8472-16T>G
NM_033305.3(VPS13A):c.8472-18T>A
NM_033305.3(VPS13A):c.8472-20T>C
NM_033305.3(VPS13A):c.8472-20T>G
NM_033305.3(VPS13A):c.8472-4dup rs1323510515
NM_033305.3(VPS13A):c.8472-7T>C rs868368544
NM_033305.3(VPS13A):c.8481T>C (p.Phe2827=)
NM_033305.3(VPS13A):c.8494_8495insTT (p.Tyr2832fs)
NM_033305.3(VPS13A):c.84T>A (p.Ser28=) rs1468144614
NM_033305.3(VPS13A):c.84T>C (p.Ser28=)
NM_033305.3(VPS13A):c.8514C>G (p.Ser2838=) rs1425890506
NM_033305.3(VPS13A):c.8520A>G (p.Leu2840=) rs1832536403
NM_033305.3(VPS13A):c.8522A>G (p.Gln2841Arg)
NM_033305.3(VPS13A):c.8538A>G (p.Arg2846=)
NM_033305.3(VPS13A):c.8540A>G (p.His2847Arg)
NM_033305.3(VPS13A):c.854_858del (p.Asn285fs) rs1823102495
NM_033305.3(VPS13A):c.8553+10A>C
NM_033305.3(VPS13A):c.8553+10A>G
NM_033305.3(VPS13A):c.8553+12A>G
NM_033305.3(VPS13A):c.8553+14T>G
NM_033305.3(VPS13A):c.8553+20A>T
NM_033305.3(VPS13A):c.8553+22_8553+43del
NM_033305.3(VPS13A):c.8553+7C>G
NM_033305.3(VPS13A):c.8554-12T>C
NM_033305.3(VPS13A):c.8554-13A>C
NM_033305.3(VPS13A):c.8554-15A>G
NM_033305.3(VPS13A):c.8554-19G>A
NM_033305.3(VPS13A):c.8554-1G>A rs1832615773
NM_033305.3(VPS13A):c.8554-1G>C rs1832615773
NM_033305.3(VPS13A):c.8554-2A>T rs1832615643
NM_033305.3(VPS13A):c.8554-8A>G rs2131585205
NM_033305.3(VPS13A):c.8557A>C (p.Ile2853Leu)
NM_033305.3(VPS13A):c.855C>T (p.Asn285=)
NM_033305.3(VPS13A):c.8563dup (p.Gln2855fs) rs1832616472
NM_033305.3(VPS13A):c.8586A>T (p.Gly2862=) rs2131585288
NM_033305.3(VPS13A):c.8588T>C (p.Leu2863Pro) rs986562076
NM_033305.3(VPS13A):c.8607A>G (p.Pro2869=) rs2131585316
NM_033305.3(VPS13A):c.8613del (p.Gly2871_Leu2872insTer)
NM_033305.3(VPS13A):c.8619T>G (p.Ile2873Met)
NM_033305.3(VPS13A):c.8637T>G (p.Gly2879=)
NM_033305.3(VPS13A):c.8638G>A (p.Val2880Ile)
NM_033305.3(VPS13A):c.8640A>C (p.Val2880=)
NM_033305.3(VPS13A):c.8653dup (p.Tyr2885fs)
NM_033305.3(VPS13A):c.8656G>T (p.Glu2886Ter)
NM_033305.3(VPS13A):c.865G>A (p.Glu289Lys)
NM_033305.3(VPS13A):c.8664C>A (p.Tyr2888Ter) rs1241810634
NM_033305.3(VPS13A):c.8667+11T>A
NM_033305.3(VPS13A):c.8667+14T>C
NM_033305.3(VPS13A):c.8667+17del
NM_033305.3(VPS13A):c.8667+9G>A
NM_033305.3(VPS13A):c.8668-14A>C
NM_033305.3(VPS13A):c.8668-14A>G
NM_033305.3(VPS13A):c.8668-15T>C
NM_033305.3(VPS13A):c.8668-16C>T
NM_033305.3(VPS13A):c.8668-19T>G
NM_033305.3(VPS13A):c.8668-1G>A rs2131587158
NM_033305.3(VPS13A):c.8668-1G>C
NM_033305.3(VPS13A):c.8668-20T>C
NM_033305.3(VPS13A):c.8668-5T>C
NM_033305.3(VPS13A):c.8668-5T>G
NM_033305.3(VPS13A):c.8668-8C>A
NM_033305.3(VPS13A):c.8668-8C>T
NM_033305.3(VPS13A):c.8668-9G>A rs2131587130
NM_033305.3(VPS13A):c.8670A>T (p.Gly2890=) rs2131587164
NM_033305.3(VPS13A):c.8673C>T (p.Ala2891=) rs2131587174
NM_033305.3(VPS13A):c.8677C>A (p.Gln2893Lys)
NM_033305.3(VPS13A):c.8685T>A (p.Pro2895=) rs1587675725
NM_033305.3(VPS13A):c.8688A>G (p.Glu2896=) rs2131587216
NM_033305.3(VPS13A):c.8691G>A (p.Glu2897=)
NM_033305.3(VPS13A):c.8694T>C (p.Phe2898=)
NM_033305.3(VPS13A):c.8724_8725dup (p.Leu2909fs)
NM_033305.3(VPS13A):c.8727A>G (p.Leu2909=)
NM_033305.3(VPS13A):c.8743+10A>G
NM_033305.3(VPS13A):c.8743+10A>T
NM_033305.3(VPS13A):c.8743+13A>G
NM_033305.3(VPS13A):c.8743+16T>G
NM_033305.3(VPS13A):c.8743+18_8743+20dup
NM_033305.3(VPS13A):c.8743+19A>G
NM_033305.3(VPS13A):c.8743+20C>T
NM_033305.3(VPS13A):c.8743+7A>C
NM_033305.3(VPS13A):c.8743+8A>G
NM_033305.3(VPS13A):c.8744-12A>G
NM_033305.3(VPS13A):c.8744-18A>G
NM_033305.3(VPS13A):c.8757T>C (p.Gly2919=) rs765766278
NM_033305.3(VPS13A):c.8759C>T (p.Ala2920Val) rs750896320
NM_033305.3(VPS13A):c.8766C>A (p.Ser2922=)
NM_033305.3(VPS13A):c.876A>C (p.Lys292Asn)
NM_033305.3(VPS13A):c.8772C>T (p.Ile2924=) rs1451552987
NM_033305.3(VPS13A):c.8773A>T (p.Thr2925Ser) rs2131587579
NM_033305.3(VPS13A):c.8775del (p.Gly2926fs)
NM_033305.3(VPS13A):c.8781T>C (p.Ala2927=) rs2131587625
NM_033305.3(VPS13A):c.8793G>A (p.Gly2931=) rs1207246802
NM_033305.3(VPS13A):c.879A>G (p.Pro293=) rs1354968822
NM_033305.3(VPS13A):c.87G>A (p.Leu29=)
NM_033305.3(VPS13A):c.8802T>C (p.Ala2934=) rs2131587674
NM_033305.3(VPS13A):c.8808C>A (p.Thr2936=)
NM_033305.3(VPS13A):c.882+12T>C
NM_033305.3(VPS13A):c.882+12dup
NM_033305.3(VPS13A):c.882+13A>G
NM_033305.3(VPS13A):c.882+19A>C
NM_033305.3(VPS13A):c.882+1G>A
NM_033305.3(VPS13A):c.882+20T>C
NM_033305.3(VPS13A):c.882+2T>G
NM_033305.3(VPS13A):c.882+8T>A
NM_033305.3(VPS13A):c.882+8T>C rs1590020161
NM_033305.3(VPS13A):c.8820C>G (p.Asp2940Glu)
NM_033305.3(VPS13A):c.8823C>T (p.Tyr2941=)
NM_033305.3(VPS13A):c.8826A>G (p.Gln2942=)
NM_033305.3(VPS13A):c.8829G>A (p.Gln2943=) rs2131587734
NM_033305.3(VPS13A):c.883-13T>A
NM_033305.3(VPS13A):c.883-1G>A
NM_033305.3(VPS13A):c.883-1G>C
NM_033305.3(VPS13A):c.883-3del rs761831670
NM_033305.3(VPS13A):c.883-6C>A rs764388378
NM_033305.3(VPS13A):c.883-9A>G rs1590020490
NM_033305.3(VPS13A):c.8836A>C (p.Arg2946=)
NM_033305.3(VPS13A):c.8844C>T (p.Ala2948=) rs2131587769
NM_033305.3(VPS13A):c.8848_8860del (p.Asn2950fs) rs1832691674
NM_033305.3(VPS13A):c.8853G>A (p.Lys2951=)
NM_033305.3(VPS13A):c.8864G>A (p.Gly2955Asp)
NM_033305.3(VPS13A):c.8865T>G (p.Gly2955=)
NM_033305.3(VPS13A):c.8869dup (p.Arg2957fs)
NM_033305.3(VPS13A):c.8870G>A (p.Arg2957Lys)
NM_033305.3(VPS13A):c.8874A>G (p.Glu2958=) rs2131587813
NM_033305.3(VPS13A):c.888C>T (p.Phe296=) rs2131176867
NM_033305.3(VPS13A):c.8891G>A (p.Gly2964Glu)
NM_033305.3(VPS13A):c.8907+11T>C
NM_033305.3(VPS13A):c.8907+13A>G
NM_033305.3(VPS13A):c.8907+14C>A
NM_033305.3(VPS13A):c.8907+15A>G
NM_033305.3(VPS13A):c.8907+17G>A
NM_033305.3(VPS13A):c.8907+19T>C rs1192828015
NM_033305.3(VPS13A):c.8907+2T>C
NM_033305.3(VPS13A):c.8908-149dup rs3841736
NM_033305.3(VPS13A):c.8908-17T>C
NM_033305.3(VPS13A):c.8908-17T>G
NM_033305.3(VPS13A):c.8908-19A>C
NM_033305.3(VPS13A):c.8908-20C>T
NM_033305.3(VPS13A):c.8908-4C>T
NM_033305.3(VPS13A):c.8910A>C (p.Gly2970=) rs767575051
NM_033305.3(VPS13A):c.8923A>G (p.Ile2975Val)
NM_033305.3(VPS13A):c.8939C>T (p.Thr2980Ile)
NM_033305.3(VPS13A):c.8939_8942del (p.Thr2980fs) rs1832712113
NM_033305.3(VPS13A):c.8940A>G (p.Thr2980=)
NM_033305.3(VPS13A):c.8949C>T (p.Ile2983=)
NM_033305.3(VPS13A):c.894T>A (p.Ile298=)
NM_033305.3(VPS13A):c.8953+10G>A rs780709670
NM_033305.3(VPS13A):c.8953+10G>C
NM_033305.3(VPS13A):c.8953+12A>C
NM_033305.3(VPS13A):c.8953+16C>G
NM_033305.3(VPS13A):c.8953+19T>C
NM_033305.3(VPS13A):c.8954-10_8954-9del
NM_033305.3(VPS13A):c.8954-12T>C
NM_033305.3(VPS13A):c.8954-14T>A
NM_033305.3(VPS13A):c.8954-14T>C
NM_033305.3(VPS13A):c.8954-15C>G
NM_033305.3(VPS13A):c.8954-15_8954-14del
NM_033305.3(VPS13A):c.8954-2A>G
NM_033305.3(VPS13A):c.8954-3C>T
NM_033305.3(VPS13A):c.8954-4C>G rs751339468
NM_033305.3(VPS13A):c.8954-7T>A rs2131588900
NM_033305.3(VPS13A):c.8954-9T>G rs2131588884
NM_033305.3(VPS13A):c.8954-9del
NM_033305.3(VPS13A):c.8954-9dup
NM_033305.3(VPS13A):c.8958T>G (p.Ala2986=) rs2131588933
NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=) rs998711723
NM_033305.3(VPS13A):c.8985T>C (p.Phe2995=)
NM_033305.3(VPS13A):c.9012A>T (p.Gly3004=) rs2131589057
NM_033305.3(VPS13A):c.9013G>A (p.Ala3005Thr)
NM_033305.3(VPS13A):c.9015G>A (p.Ala3005=) rs762058561
NM_033305.3(VPS13A):c.9015G>C (p.Ala3005=) rs762058561
NM_033305.3(VPS13A):c.9015G>T (p.Ala3005=) rs762058561
NM_033305.3(VPS13A):c.9021A>T (p.Ala3007=)
NM_033305.3(VPS13A):c.9022A>C (p.Arg3008=) rs769872537
NM_033305.3(VPS13A):c.9030T>A (p.Thr3010=)
NM_033305.3(VPS13A):c.9045C>T (p.Asp3015=)
NM_033305.3(VPS13A):c.9066G>A (p.Gln3022=) rs756840749
NM_033305.3(VPS13A):c.9068del (p.Gly3023fs) rs1480778616
NM_033305.3(VPS13A):c.906T>A (p.Leu302=) rs1379460428
NM_033305.3(VPS13A):c.9077+13T>C
NM_033305.3(VPS13A):c.9077+9T>A
NM_033305.3(VPS13A):c.9077G>C (p.Arg3026Thr)
NM_033305.3(VPS13A):c.9078-14T>A
NM_033305.3(VPS13A):c.9078-16del
NM_033305.3(VPS13A):c.9078-17T>C
NM_033305.3(VPS13A):c.9078-1G>C rs2131614057
NM_033305.3(VPS13A):c.9078-20T>C
NM_033305.3(VPS13A):c.9078-227A>C rs138039678
NM_033305.3(VPS13A):c.9078-4C>G rs1374654873
NM_033305.3(VPS13A):c.9078-5T>C
NM_033305.3(VPS13A):c.9078-6dup rs2131614032
NM_033305.3(VPS13A):c.9078-8dup
NM_033305.3(VPS13A):c.9087_9088del (p.Glu3029fs)
NM_033305.3(VPS13A):c.9090T>C (p.Thr3030=) rs766693414
NM_033305.3(VPS13A):c.9094G>T (p.Glu3032Ter) rs2131614102
NM_033305.3(VPS13A):c.90C>T (p.Gly30=)
NM_033305.3(VPS13A):c.9108G>A (p.Leu3036=)
NM_033305.3(VPS13A):c.9120G>A (p.Arg3040=)
NM_033305.3(VPS13A):c.9126C>T (p.Phe3042=)
NM_033305.3(VPS13A):c.912A>G (p.Ser304=)
NM_033305.3(VPS13A):c.9141T>C (p.Val3047=)
NM_033305.3(VPS13A):c.9150G>T (p.Pro3050=) rs143089318
NM_033305.3(VPS13A):c.915T>C (p.Val305=) rs2131177010
NM_033305.3(VPS13A):c.9180A>G (p.Gln3060=)
NM_033305.3(VPS13A):c.9181_9182dup (p.Met3061fs)
NM_033305.3(VPS13A):c.9184T>C (p.Leu3062=)
NM_033305.3(VPS13A):c.9189+14T>C
NM_033305.3(VPS13A):c.9189+15A>G
NM_033305.3(VPS13A):c.9189+18T>A
NM_033305.3(VPS13A):c.9189+1G>A
NM_033305.3(VPS13A):c.9189+2506A>G
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.9189+2818G>T rs116588612
NM_033305.3(VPS13A):c.9190-11_9190-8del
NM_033305.3(VPS13A):c.9190-15A>T
NM_033305.3(VPS13A):c.9190-16_9190-13del
NM_033305.3(VPS13A):c.9190-18C>G
NM_033305.3(VPS13A):c.9190-6T>G
NM_033305.3(VPS13A):c.9190-7C>T rs1463716391
NM_033305.3(VPS13A):c.9190-7_9190-3del rs1834463297
NM_033305.3(VPS13A):c.9190-8T>C rs2131647590
NM_033305.3(VPS13A):c.9190-9_9190-8del
NM_033305.3(VPS13A):c.9197A>G (p.Glu3066Gly)
NM_033305.3(VPS13A):c.9198A>G (p.Glu3066=) rs2131647632
NM_033305.3(VPS13A):c.9201T>C (p.Asn3067=) rs373757676
NM_033305.3(VPS13A):c.9213A>C (p.Ala3071=) rs2131647651
NM_033305.3(VPS13A):c.9219C>G (p.Tyr3073Ter)
NM_033305.3(VPS13A):c.9219C>T (p.Tyr3073=)
NM_033305.3(VPS13A):c.9220A>T (p.Lys3074Ter)
NM_033305.3(VPS13A):c.9225T>C (p.Tyr3075=)
NM_033305.3(VPS13A):c.9231C>A (p.Thr3077=) rs1384539437
NM_033305.3(VPS13A):c.9231C>T (p.Thr3077=)
NM_033305.3(VPS13A):c.9251_9252del (p.Thr3084fs)
NM_033305.3(VPS13A):c.9253_9254del (p.Asp3085fs) rs2131647728
NM_033305.3(VPS13A):c.9255T>C (p.Asp3085=) rs1640674493
NM_033305.3(VPS13A):c.925G>A (p.Ala309Thr)
NM_033305.3(VPS13A):c.9261A>C (p.Leu3087=) rs778808119
NM_033305.3(VPS13A):c.9275+12T>G
NM_033305.3(VPS13A):c.9275+15T>C
NM_033305.3(VPS13A):c.9275+15_9275+18del rs745647155
NM_033305.3(VPS13A):c.9275+17C>T rs1834468642
NM_033305.3(VPS13A):c.9275+18T>C
NM_033305.3(VPS13A):c.9275+19C>T rs367598003
NM_033305.3(VPS13A):c.9275+1G>A rs1239148255
NM_033305.3(VPS13A):c.9275+8G>C
NM_033305.3(VPS13A):c.9275+8_9275+11del
NM_033305.3(VPS13A):c.9276-10_9276-8del rs1383785951
NM_033305.3(VPS13A):c.9276-10del rs2131654490
NM_033305.3(VPS13A):c.9276-16_9276-13del rs753118278
NM_033305.3(VPS13A):c.9276-17T>C
NM_033305.3(VPS13A):c.9276-20_9276-17del
NM_033305.3(VPS13A):c.9276-2A>C
NM_033305.3(VPS13A):c.9276-2A>T
NM_033305.3(VPS13A):c.9276-7T>C
NM_033305.3(VPS13A):c.9276-9T>A
NM_033305.3(VPS13A):c.9282A>C (p.Val3094=)
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033305.3(VPS13A):c.9291A>T (p.Val3097=)
NM_033305.3(VPS13A):c.9300A>G (p.Gly3100=)
NM_033305.3(VPS13A):c.9301A>T (p.Thr3101Ser)
NM_033305.3(VPS13A):c.9306T>C (p.Phe3102=) rs2131654578
NM_033305.3(VPS13A):c.9312A>G (p.Gln3104=)
NM_033305.3(VPS13A):c.9315C>A (p.Leu3105=) rs1197508826
NM_033305.3(VPS13A):c.9315C>T (p.Leu3105=) rs1197508826
NM_033305.3(VPS13A):c.9317C>T (p.Thr3106Met)
NM_033305.3(VPS13A):c.9318G>A (p.Thr3106=)
NM_033305.3(VPS13A):c.932A>C (p.Asn311Thr)
NM_033305.3(VPS13A):c.9330G>A (p.Gln3110=) rs1195456011
NM_033305.3(VPS13A):c.9333T>C (p.Tyr3111=) rs759203710
NM_033305.3(VPS13A):c.9339T>C (p.Phe3113=) rs764978338
NM_033305.3(VPS13A):c.9342T>C (p.Asp3114=)
NM_033305.3(VPS13A):c.9343G>T (p.Glu3115Ter)
NM_033305.3(VPS13A):c.9345A>G (p.Glu3115=) rs2131654691
NM_033305.3(VPS13A):c.9348T>C (p.Phe3116=) rs762857695
NM_033305.3(VPS13A):c.9349_9383dup (p.Arg3129fs) rs2131654698
NM_033305.3(VPS13A):c.9351C>G (p.Thr3117=) rs1489710495
NM_033305.3(VPS13A):c.9351C>T (p.Thr3117=)
NM_033305.3(VPS13A):c.9353_9356dup (p.Pro3120fs)
NM_033305.3(VPS13A):c.9371A>G (p.His3124Arg)
NM_033305.3(VPS13A):c.9372T>C (p.His3124=) rs1326934226
NM_033305.3(VPS13A):c.9384G>A (p.Leu3128=)
NM_033305.3(VPS13A):c.9386_9387del (p.Arg3129fs)
NM_033305.3(VPS13A):c.9387C>T (p.Arg3129=)
NM_033305.3(VPS13A):c.9399+11T>C
NM_033305.3(VPS13A):c.9399+12_9399+16dup
NM_033305.3(VPS13A):c.9399+13G>C
NM_033305.3(VPS13A):c.9399+14ATTT[3]
NM_033305.3(VPS13A):c.9399+14_9399+15dup
NM_033305.3(VPS13A):c.9399+16T>A
NM_033305.3(VPS13A):c.9399+16T>G
NM_033305.3(VPS13A):c.9399+171del rs11325886
NM_033305.3(VPS13A):c.9399+18A>G
NM_033305.3(VPS13A):c.9399+18_9399+21del
NM_033305.3(VPS13A):c.9399+1G>A
NM_033305.3(VPS13A):c.9399+20T>G
NM_033305.3(VPS13A):c.9399+24dup
NM_033305.3(VPS13A):c.9399+3_9399+6dup rs1162773279
NM_033305.3(VPS13A):c.9399+3_9399+7dup rs1389391433
NM_033305.3(VPS13A):c.939A>G (p.Pro313=)
NM_033305.3(VPS13A):c.9400-12T>C
NM_033305.3(VPS13A):c.9400-13A>G
NM_033305.3(VPS13A):c.9400-15A>G
NM_033305.3(VPS13A):c.9400-16C>T
NM_033305.3(VPS13A):c.9400-17A>C
NM_033305.3(VPS13A):c.9400-18T>C
NM_033305.3(VPS13A):c.9400-19T>G
NM_033305.3(VPS13A):c.9400-1G>T
NM_033305.3(VPS13A):c.9400-20T>C
NM_033305.3(VPS13A):c.9400-4A>T
NM_033305.3(VPS13A):c.9400-5T>A rs757496909
NM_033305.3(VPS13A):c.9400-5T>C
NM_033305.3(VPS13A):c.9400-7T>G
NM_033305.3(VPS13A):c.9400-8_9400-5dup rs768185313
NM_033305.3(VPS13A):c.9400-9T>C rs2131658911
NM_033305.3(VPS13A):c.9403C>A (p.Arg3135=) rs148173878
NM_033305.3(VPS13A):c.9408G>A (p.Val3136=)
NM_033305.3(VPS13A):c.9429_9432del (p.Arg3143fs) rs1085307750
NM_033305.3(VPS13A):c.942T>C (p.Tyr314=)
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
NM_033305.3(VPS13A):c.9459C>T (p.Thr3153=) rs1587730745
NM_033305.3(VPS13A):c.9463G>A (p.Glu3155Lys)
NM_033305.3(VPS13A):c.9465G>A (p.Glu3155=) rs200351756
NM_033305.3(VPS13A):c.9471C>G (p.Ala3157=)
NM_033305.3(VPS13A):c.9474+15T>C
NM_033305.3(VPS13A):c.9474+16C>A
NM_033305.3(VPS13A):c.9474+16C>T
NM_033305.3(VPS13A):c.9474+16_9474+18dup
NM_033305.3(VPS13A):c.9474+16_9474+19dup
NM_033305.3(VPS13A):c.9474+17T>C
NM_033305.3(VPS13A):c.9474+20T>C
NM_033305.3(VPS13A):c.9474+259_9474+262del rs199911832
NM_033305.3(VPS13A):c.9474+291AATT[3] rs551012766
NM_033305.3(VPS13A):c.9474+78A>G rs78052149
NM_033305.3(VPS13A):c.9474+9A>G rs1333877708
NM_033305.3(VPS13A):c.9475-14T>A
NM_033305.3(VPS13A):c.9475-1G>A rs2131675930
NM_033305.3(VPS13A):c.9475-20C>T
NM_033305.3(VPS13A):c.9475-345_9475-12del
NM_033305.3(VPS13A):c.9475-3_9500dup rs2131675925
NM_033305.3(VPS13A):c.9475-43G>T rs2274486
NM_033305.3(VPS13A):c.9475-8del
NM_033305.3(VPS13A):c.9475-97A>T rs76316027
NM_033305.3(VPS13A):c.9475-9C>T
NM_033305.3(VPS13A):c.9501A>G (p.Ala3167=) rs896250515
NM_033305.3(VPS13A):c.9510T>C (p.Pro3170=) rs2131675966
NM_033305.3(VPS13A):c.9515C>T (p.Pro3172Leu)
NM_033305.3(VPS13A):c.9516G>C (p.Pro3172=)
NM_033305.3(VPS13A):c.9516G>T (p.Pro3172=) rs370565019
NM_033305.3(VPS13A):c.9522C>G (p.Leu3174=) rs1270303424
NM_033305.3(VPS13A):c.9522C>T (p.Leu3174=)
NM_033305.3(VPS13A):c.952A>T (p.Lys318Ter) rs1823130291
NM_033305.3(VPS13A):c.954A>G (p.Lys318=) rs2131177111
NM_033305.3(VPS13A):c.963G>T (p.Val321=) rs184828562
NM_033305.3(VPS13A):c.987A>G (p.Glu329=) rs2131177202
NM_033305.3(VPS13A):c.989+12G>T
NM_033305.3(VPS13A):c.989+13del
NM_033305.3(VPS13A):c.989+18T>A
NM_033305.3(VPS13A):c.989+28del rs751974264
NM_033305.3(VPS13A):c.989+2T>G rs2131177211
NM_033305.3(VPS13A):c.989+74A>G rs114426318
NM_033305.3(VPS13A):c.990-10T>C rs1361925754
NM_033305.3(VPS13A):c.990-16T>C
NM_033305.3(VPS13A):c.990-19T>C
NM_033305.3(VPS13A):c.990-19T>G
NM_033305.3(VPS13A):c.990-7dup rs781355894
NM_033305.3(VPS13A):c.994del (p.Ala332fs) rs1353432136
NM_033305.3(VPS13A):c.996T>G (p.Ala332=)
Single allele

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