ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 837
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HGVS dbSNP
GRCh37/hg19 8q22.2(chr8:100032341-100088337)x1
GRCh37/hg19 8q22.2(chr8:100073432-100594092)x1
GRCh37/hg19 8q22.2(chr8:100121961-100331982)x1
GRCh37/hg19 8q22.2(chr8:100276485-100494359)x1
GRCh37/hg19 8q22.2(chr8:100356422-100777020)x1
GRCh37/hg19 8q22.2(chr8:100638488-100732693)x1
GRCh38/hg38 8q22.2(chr8:99278660-99451719)x1
NC_000008.10:g.(?_100025997)_(100133735_?)dup
NC_000008.11:g.(?_99013769)_(99038586_?)dup
NC_000008.11:g.(?_99013769)_(99875686_?)dup
NC_000008.11:g.(?_99096292)_(99156763_?)del
NC_000008.11:g.(?_99096312)_(99148010_?)del
NC_000008.11:g.(?_99102933)_(99103140_?)del
NC_000008.11:g.(?_99102933)_(99209688_?)del
NC_000008.11:g.(?_99142974)_(99143165_?)del
NC_000008.11:g.(?_99766774)_(99784476_?)dup
NM_015243.2(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216
NM_015243.2(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_015243.2(VPS13B):c.1296A>G (p.Thr432=) rs765163542
NM_015243.2(VPS13B):c.1302+2dup rs766708621
NM_015243.2(VPS13B):c.1334_1335delinsTT (p.Cys445Phe) rs1563560499
NM_015243.2(VPS13B):c.1464G>A (p.Thr488=) rs727504217
NM_015243.2(VPS13B):c.1567A>G (p.Thr523Ala) rs146659631
NM_015243.2(VPS13B):c.160C>T (p.Pro54Ser) rs1193369148
NM_015243.2(VPS13B):c.1652-9T>A rs375615155
NM_015243.2(VPS13B):c.2034_2036TAC[1] (p.Thr680del) rs1554645561
NM_015243.2(VPS13B):c.502G>A (p.Val168Ile) rs750201290
NM_015243.2(VPS13B):c.524C>G (p.Ser175Cys) rs398124334
NM_015243.2(VPS13B):c.581-9dup rs60664170
NM_015243.2(VPS13B):c.78A>G (p.Leu26=) rs745980143
NM_015243.2(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725
NM_015243.3(VPS13B):c.1061C>T (p.Pro354Leu)
NM_015243.3(VPS13B):c.1081G>C (p.Asp361His)
NM_015243.3(VPS13B):c.1087G>A (p.Glu363Lys)
NM_015243.3(VPS13B):c.1127A>G (p.His376Arg)
NM_015243.3(VPS13B):c.1193C>T (p.Thr398Met)
NM_015243.3(VPS13B):c.1234T>A (p.Tyr412Asn)
NM_015243.3(VPS13B):c.1294A>G (p.Thr432Ala)
NM_015243.3(VPS13B):c.1371T>G (p.Leu457=)
NM_015243.3(VPS13B):c.149A>C (p.Glu50Ala)
NM_015243.3(VPS13B):c.1531G>A (p.Ala511Thr)
NM_015243.3(VPS13B):c.1612A>G (p.Met538Val)
NM_015243.3(VPS13B):c.1668A>T (p.Gln556His)
NM_015243.3(VPS13B):c.1769C>T (p.Ala590Val)
NM_015243.3(VPS13B):c.1772T>C (p.Val591Ala)
NM_015243.3(VPS13B):c.1843G>T (p.Asp615Tyr)
NM_015243.3(VPS13B):c.1865C>T (p.Thr622Ile)
NM_015243.3(VPS13B):c.1904A>G (p.Tyr635Cys)
NM_015243.3(VPS13B):c.1916G>A (p.Arg639Gln)
NM_015243.3(VPS13B):c.1924A>G (p.Ser642Gly)
NM_015243.3(VPS13B):c.19A>T (p.Thr7Ser)
NM_015243.3(VPS13B):c.2035A>G (p.Thr679Ala)
NM_015243.3(VPS13B):c.2038A>G (p.Thr680Ala)
NM_015243.3(VPS13B):c.2051C>T (p.Ser684Phe)
NM_015243.3(VPS13B):c.2081TGG[1] (p.Val695del)
NM_015243.3(VPS13B):c.2139T>A (p.His713Gln)
NM_015243.3(VPS13B):c.2234C>T (p.Thr745Met)
NM_015243.3(VPS13B):c.2248A>G (p.Ser750Gly)
NM_015243.3(VPS13B):c.2269G>A (p.Val757Ile)
NM_015243.3(VPS13B):c.2306G>C (p.Gly769Ala)
NM_015243.3(VPS13B):c.2330G>A (p.Cys777Tyr)
NM_015243.3(VPS13B):c.2333+12A>T
NM_015243.3(VPS13B):c.2334-3C>T
NM_015243.3(VPS13B):c.2338A>C (p.Lys780Gln)
NM_015243.3(VPS13B):c.2414C>G (p.Thr805Arg)
NM_015243.3(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla)
NM_015243.3(VPS13B):c.328C>T (p.Arg110Cys)
NM_015243.3(VPS13B):c.332G>A (p.Ser111Asn)
NM_015243.3(VPS13B):c.367C>T (p.Arg123Trp)
NM_015243.3(VPS13B):c.416A>T (p.Tyr139Phe)
NM_015243.3(VPS13B):c.74A>T (p.Asp25Val)
NM_015243.3(VPS13B):c.762+5G>T
NM_015243.3(VPS13B):c.796A>G (p.Ile266Val)
NM_015243.3(VPS13B):c.857A>G (p.Tyr286Cys)
NM_015243.3(VPS13B):c.897C>G (p.Asp299Glu)
NM_015243.3(VPS13B):c.907C>G (p.His303Asp)
NM_015243.3(VPS13B):c.921G>A (p.Met307Ile)
NM_015243.3(VPS13B):c.943G>A (p.Glu315Lys)
NM_015243.3(VPS13B):c.973C>G (p.Pro325Ala)
NM_015243.3(VPS13B):c.986A>C (p.Lys329Thr)
NM_017890.4(VPS13B):c.*1106_*1108dup rs765534822
NM_017890.4(VPS13B):c.*1345C>T rs778566330
NM_017890.4(VPS13B):c.*1355T>G rs562826355
NM_017890.4(VPS13B):c.*140G>A rs535987441
NM_017890.4(VPS13B):c.*1483C>A rs886062558
NM_017890.4(VPS13B):c.*1504_*1507dup rs747583708
NM_017890.4(VPS13B):c.*1540T>C rs148026916
NM_017890.4(VPS13B):c.*202T>A rs201566966
NM_017890.4(VPS13B):c.*270C>T rs886062550
NM_017890.4(VPS13B):c.*705T>C rs886062554
NM_017890.4(VPS13B):c.*733A>T rs886062555
NM_017890.4(VPS13B):c.*740G>C rs886062556
NM_017890.4(VPS13B):c.*743T>G rs144603951
NM_017890.4(VPS13B):c.1000T>C (p.Tyr334His) rs150464408
NM_017890.4(VPS13B):c.10017+4A>G rs772319548
NM_017890.4(VPS13B):c.10018G>T (p.Val3340Phe) rs116746734
NM_017890.4(VPS13B):c.10034G>T (p.Gly3345Val) rs1563506534
NM_017890.4(VPS13B):c.10086C>G (p.Ile3362Met) rs542986432
NM_017890.4(VPS13B):c.10144G>A (p.Glu3382Lys) rs1563509434
NM_017890.4(VPS13B):c.10175C>A (p.Thr3392Asn) rs759636784
NM_017890.4(VPS13B):c.10204C>T (p.Leu3402Phe) rs535553836
NM_017890.4(VPS13B):c.10244C>T (p.Thr3415Ile) rs767783667
NM_017890.4(VPS13B):c.10273C>T (p.Pro3425Ser)
NM_017890.4(VPS13B):c.10274C>T (p.Pro3425Leu) rs368041601
NM_017890.4(VPS13B):c.10312G>T (p.Ala3438Ser) rs79324124
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10333G>A (p.Val3445Met) rs191174682
NM_017890.4(VPS13B):c.10388A>G (p.Asn3463Ser) rs146460917
NM_017890.4(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_017890.4(VPS13B):c.10427_10429del (p.Ala3476del) rs1554581420
NM_017890.4(VPS13B):c.10459C>T (p.Leu3487Phe) rs761972356
NM_017890.4(VPS13B):c.10501T>C (p.Cys3501Arg) rs886062549
NM_017890.4(VPS13B):c.10543A>G (p.Ile3515Val) rs398124325
NM_017890.4(VPS13B):c.10553A>G (p.Asp3518Gly) rs587780497
NM_017890.4(VPS13B):c.10588C>T (p.Arg3530Trp) rs763017122
NM_017890.4(VPS13B):c.10593A>T (p.Leu3531Phe) rs759427770
NM_017890.4(VPS13B):c.10596C>T (p.Tyr3532=) rs767239312
NM_017890.4(VPS13B):c.10597G>A (p.Val3533Met) rs142957181
NM_017890.4(VPS13B):c.10613T>C (p.Val3538Ala)
NM_017890.4(VPS13B):c.10615T>C (p.Tyr3539His) rs1440017130
NM_017890.4(VPS13B):c.10620C>A (p.Tyr3540Ter) rs758842658
NM_017890.4(VPS13B):c.10624A>G (p.Lys3542Glu) rs143187571
NM_017890.4(VPS13B):c.10631T>C (p.Leu3544Ser) rs1563510051
NM_017890.4(VPS13B):c.10640C>T (p.Thr3547Ile) rs781253026
NM_017890.4(VPS13B):c.10643A>G (p.Tyr3548Cys) rs398124326
NM_017890.4(VPS13B):c.1066A>G (p.Ile356Val)
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.10701G>A (p.Val3567=) rs139227281
NM_017890.4(VPS13B):c.10718C>T (p.Thr3573Ile) rs750693109
NM_017890.4(VPS13B):c.10738G>A (p.Val3580Met) rs745866775
NM_017890.4(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789
NM_017890.4(VPS13B):c.10756C>T (p.Arg3586Trp) rs200232124
NM_017890.4(VPS13B):c.10757G>A (p.Arg3586Gln) rs549125520
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) rs145547375
NM_017890.4(VPS13B):c.10828G>A (p.Asp3610Asn) rs1311421082
NM_017890.4(VPS13B):c.10830C>T (p.Asp3610=) rs145950999
NM_017890.4(VPS13B):c.10900G>A (p.Ala3634Thr)
NM_017890.4(VPS13B):c.10921G>A (p.Ala3641Thr)
NM_017890.4(VPS13B):c.10960_10962del (p.Leu3654del) rs1554583497
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11007C>T (p.Asn3669=) rs745337140
NM_017890.4(VPS13B):c.11008G>A (p.Gly3670Arg)
NM_017890.4(VPS13B):c.11011G>A (p.Val3671Ile)
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11014G>A (p.Ala3672Thr) rs868118584
NM_017890.4(VPS13B):c.11017G>A (p.Asp3673Asn) rs748727467
NM_017890.4(VPS13B):c.11051G>T (p.Arg3684Leu)
NM_017890.4(VPS13B):c.11053G>A (p.Gly3685Ser) rs373947421
NM_017890.4(VPS13B):c.1108G>C (p.Asp370His) rs748531719
NM_017890.4(VPS13B):c.11119+5C>T rs764708878
NM_017890.4(VPS13B):c.11119+6G>A rs369477759
NM_017890.4(VPS13B):c.11132C>A (p.Ser3711Tyr)
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11153G>C (p.Ser3718Thr) rs398124327
NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) rs757726642
NM_017890.4(VPS13B):c.11173C>T (p.Arg3725Trp)
NM_017890.4(VPS13B):c.11189A>T (p.Glu3730Val) rs376308074
NM_017890.4(VPS13B):c.11203C>T (p.Arg3735Trp)
NM_017890.4(VPS13B):c.11218C>T (p.Arg3740Trp) rs772640414
NM_017890.4(VPS13B):c.11221C>T (p.Arg3741Trp) rs773324603
NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) rs150393340
NM_017890.4(VPS13B):c.11245G>A (p.Glu3749Lys) rs180177372
NM_017890.4(VPS13B):c.11255G>A (p.Arg3752Gln) rs913075497
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11272C>A (p.Leu3758Met)
NM_017890.4(VPS13B):c.11291-6T>C rs780721865
NM_017890.4(VPS13B):c.11293G>A (p.Ala3765Thr) rs749392832
NM_017890.4(VPS13B):c.11350C>G (p.Gln3784Glu) rs797046093
NM_017890.4(VPS13B):c.1137A>G (p.Lys379=)
NM_017890.4(VPS13B):c.11387C>T (p.Ser3796Leu) rs142516047
NM_017890.4(VPS13B):c.11413G>T (p.Val3805Leu) rs138565077
NM_017890.4(VPS13B):c.11414T>C (p.Val3805Ala)
NM_017890.4(VPS13B):c.114C>T (p.Ser38=)
NM_017890.4(VPS13B):c.11513A>G (p.His3838Arg) rs549702100
NM_017890.4(VPS13B):c.11522G>A (p.Ser3841Asn)
NM_017890.4(VPS13B):c.11549A>G (p.Asn3850Ser) rs199741560
NM_017890.4(VPS13B):c.11566_11568dup (p.Val3856dup) rs1554588147
NM_017890.4(VPS13B):c.11567T>C (p.Val3856Ala)
NM_017890.4(VPS13B):c.11570+4A>G rs1563519738
NM_017890.4(VPS13B):c.11570+6A>G rs116546060
NM_017890.4(VPS13B):c.11617G>C (p.Asp3873His)
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11689G>A (p.Val3897Met)
NM_017890.4(VPS13B):c.11698G>A (p.Val3900Ile)
NM_017890.4(VPS13B):c.11731G>A (p.Val3911Ile) rs141793014
NM_017890.4(VPS13B):c.11785C>G (p.Gln3929Glu) rs545957190
NM_017890.4(VPS13B):c.11807C>T (p.Ala3936Val) rs978197543
NM_017890.4(VPS13B):c.11820+4C>T rs751045565
NM_017890.4(VPS13B):c.11820+5G>A rs398124328
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11834G>A (p.Arg3945Gln) rs147907236
NM_017890.4(VPS13B):c.11889_11891dup (p.Ser3964dup) rs1236948038
NM_017890.4(VPS13B):c.11906C>A (p.Pro3969His) rs1010334738
NM_017890.4(VPS13B):c.11909G>A (p.Ser3970Asn)
NM_017890.4(VPS13B):c.11914_11917dup (p.Ser3973fs)
NM_017890.4(VPS13B):c.11925_11928dup (p.Pro3977fs) rs1554590433
NM_017890.4(VPS13B):c.11927T>C (p.Ile3976Thr) rs73273219
NM_017890.4(VPS13B):c.11960C>G (p.Pro3987Arg) rs531619892
NM_017890.4(VPS13B):c.11967_11970dup (p.Lys3991delinsCysTer) rs1554590486
NM_017890.4(VPS13B):c.11972A>T (p.Lys3991Ile) rs117934093
NM_017890.4(VPS13B):c.11974dup (p.Thr3992fs) rs1554590501
NM_017890.4(VPS13B):c.11976_11979dup (p.His3994fs) rs1554590506
NM_017890.4(VPS13B):c.11981_11986dup (p.His3994_Tyr3995dup) rs1554590515
NM_017890.4(VPS13B):c.11982_11983insG (p.Tyr3995fs) rs1554590537
NM_017890.4(VPS13B):c.11992_11994dup (p.Asp3998dup) rs1554590552
NM_017890.4(VPS13B):c.12020G>A (p.Ser4007Asn)
NM_017890.4(VPS13B):c.12039_12059dup (p.Asn4014_Gly4020dup) rs1554590631
NM_017890.4(VPS13B):c.12040_12041dup (p.Asn4014fs) rs1554590620
NM_017890.4(VPS13B):c.12042_12043dup (p.Lys4015fs) rs1554590636
NM_017890.4(VPS13B):c.12042_12045dup (p.Ala4016Ter) rs769983613
NM_017890.4(VPS13B):c.1206+40T>C rs1554625938
NM_017890.4(VPS13B):c.1229G>A (p.Ser410Asn) rs1465978289
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147
NM_017890.4(VPS13B):c.1382T>C (p.Met461Thr)
NM_017890.4(VPS13B):c.1391A>C (p.Lys464Thr)
NM_017890.4(VPS13B):c.1425+9G>A rs551460373
NM_017890.4(VPS13B):c.1440C>T (p.Phe480=) rs141324814
NM_017890.4(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_017890.4(VPS13B):c.1526C>G (p.Thr509Ser) rs1445396058
NM_017890.4(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291
NM_017890.4(VPS13B):c.1529G>A (p.Arg510His) rs771667880
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.1569A>G (p.Thr523=) rs797046094
NM_017890.4(VPS13B):c.1580T>C (p.Ile527Thr)
NM_017890.4(VPS13B):c.1586G>A (p.Gly529Glu) rs750429731
NM_017890.4(VPS13B):c.1590G>A (p.Met530Ile) rs200519753
NM_017890.4(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405
NM_017890.4(VPS13B):c.1615G>A (p.Asp539Asn)
NM_017890.4(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091
NM_017890.4(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_017890.4(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536
NM_017890.4(VPS13B):c.1666C>G (p.Gln556Glu) rs1554639027
NM_017890.4(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_017890.4(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475
NM_017890.4(VPS13B):c.1754G>A (p.Arg585His) rs773472945
NM_017890.4(VPS13B):c.1762A>G (p.Ser588Gly)
NM_017890.4(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_017890.4(VPS13B):c.1770G>A (p.Ala590=) rs760564848
NM_017890.4(VPS13B):c.1771G>A (p.Val591Met)
NM_017890.4(VPS13B):c.1774C>T (p.His592Tyr) rs1588083628
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.1843+10T>C rs371154826
NM_017890.4(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329
NM_017890.4(VPS13B):c.1876C>A (p.Pro626Thr) rs1027919525
NM_017890.4(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537
NM_017890.4(VPS13B):c.1960A>G (p.Met654Val)
NM_017890.4(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616
NM_017890.4(VPS13B):c.2033A>G (p.Asn678Ser) rs751669595
NM_017890.4(VPS13B):c.2048A>G (p.Gln683Arg) rs372585253
NM_017890.4(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_017890.4(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632
NM_017890.4(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701
NM_017890.4(VPS13B):c.2091A>T (p.Lys697Asn) rs376694328
NM_017890.4(VPS13B):c.211T>C (p.Trp71Arg) rs886062534
NM_017890.4(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_017890.4(VPS13B):c.2180A>G (p.His727Arg)
NM_017890.4(VPS13B):c.2243A>G (p.Asp748Gly)
NM_017890.4(VPS13B):c.2244T>C (p.Asp748=) rs146450992
NM_017890.4(VPS13B):c.2244T>G (p.Asp748Glu)
NM_017890.4(VPS13B):c.2272C>G (p.Pro758Ala)
NM_017890.4(VPS13B):c.2282C>A (p.Pro761His) rs186644576
NM_017890.4(VPS13B):c.2323C>G (p.Pro775Ala)
NM_017890.4(VPS13B):c.232C>A (p.Pro78Thr) rs954707371
NM_017890.4(VPS13B):c.2333+5G>A
NM_017890.4(VPS13B):c.2356A>G (p.Ile786Val) rs202052403
NM_017890.4(VPS13B):c.236T>C (p.Val79Ala) rs1587947443
NM_017890.4(VPS13B):c.2383A>G (p.Asn795Asp) rs781012935
NM_017890.4(VPS13B):c.2431A>G (p.Ile811Val)
NM_017890.4(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_017890.4(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274
NM_017890.4(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141
NM_017890.4(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159
NM_017890.4(VPS13B):c.2495A>G (p.Asn832Ser) rs1286492322
NM_017890.4(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788
NM_017890.4(VPS13B):c.250A>G (p.Asn84Asp)
NM_017890.4(VPS13B):c.2516-3T>A
NM_017890.4(VPS13B):c.2518G>A (p.Val840Met) rs141694201
NM_017890.4(VPS13B):c.2522A>G (p.Lys841Arg)
NM_017890.4(VPS13B):c.2536C>G (p.Leu846Val)
NM_017890.4(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530
NM_017890.4(VPS13B):c.2543C>T (p.Thr848Ile)
NM_017890.4(VPS13B):c.2567T>C (p.Val856Ala)
NM_017890.4(VPS13B):c.2569G>C (p.Glu857Gln) rs886042520
NM_017890.4(VPS13B):c.2579_2584dup (p.Ser862_Thr863insAsnCys) rs1554706171
NM_017890.4(VPS13B):c.2583C>T (p.Cys861=) rs199868590
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2609C>T (p.Ser870Phe) rs376044341
NM_017890.4(VPS13B):c.2617A>G (p.Met873Val) rs745651556
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2651-12A>G rs886062538
NM_017890.4(VPS13B):c.2667G>T (p.Glu889Asp)
NM_017890.4(VPS13B):c.2673G>T (p.Leu891Phe) rs770484465
NM_017890.4(VPS13B):c.2677C>A (p.Pro893Thr) rs373346647
NM_017890.4(VPS13B):c.2687A>G (p.Gln896Arg) rs1269673113
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2752T>C (p.Ser918Pro) rs886062539
NM_017890.4(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818
NM_017890.4(VPS13B):c.2765C>T (p.Pro922Leu) rs1378379268
NM_017890.4(VPS13B):c.2785A>G (p.Ile929Val) rs1222718209
NM_017890.4(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_017890.4(VPS13B):c.2823C>T (p.Ser941=) rs199881514
NM_017890.4(VPS13B):c.2825-4T>A rs201354177
NM_017890.4(VPS13B):c.2830G>T (p.Val944Leu) rs753607562
NM_017890.4(VPS13B):c.2847A>G (p.Ile949Met) rs398124331
NM_017890.4(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_017890.4(VPS13B):c.2864A>G (p.Asn955Ser)
NM_017890.4(VPS13B):c.2880A>T (p.Leu960Phe) rs760792770
NM_017890.4(VPS13B):c.2885C>T (p.Thr962Met) rs547184348
NM_017890.4(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332
NM_017890.4(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670
NM_017890.4(VPS13B):c.2935-4C>T rs207469601
NM_017890.4(VPS13B):c.2988T>A (p.Asp996Glu)
NM_017890.4(VPS13B):c.2993T>G (p.Val998Gly) rs892148263
NM_017890.4(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948
NM_017890.4(VPS13B):c.3020A>C (p.Lys1007Thr)
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3083-8G>A rs201973611
NM_017890.4(VPS13B):c.3083-9C>T rs376659281
NM_017890.4(VPS13B):c.3106G>A (p.Val1036Ile)
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3118T>A (p.Leu1040Met) rs746830200
NM_017890.4(VPS13B):c.3148G>A (p.Glu1050Lys) rs794727363
NM_017890.4(VPS13B):c.3200T>C (p.Leu1067Pro) rs1563727071
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=) rs140090983
NM_017890.4(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_017890.4(VPS13B):c.3249T>G (p.Asp1083Glu) rs1196083061
NM_017890.4(VPS13B):c.3255G>A (p.Leu1085=) rs371674854
NM_017890.4(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494
NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) rs200982547
NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208
NM_017890.4(VPS13B):c.3366G>C (p.Lys1122Asn) rs752453891
NM_017890.4(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_017890.4(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_017890.4(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701
NM_017890.4(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_017890.4(VPS13B):c.347C>G (p.Thr116Arg)
NM_017890.4(VPS13B):c.3482T>G (p.Phe1161Cys) rs1563746308
NM_017890.4(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3521G>A (p.Cys1174Tyr)
NM_017890.4(VPS13B):c.3538G>A (p.Gly1180Ser)
NM_017890.4(VPS13B):c.3559G>A (p.Val1187Ile) rs151247807
NM_017890.4(VPS13B):c.3595A>G (p.Thr1199Ala) rs1563746444
NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_017890.4(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021
NM_017890.4(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_017890.4(VPS13B):c.3662C>A (p.Pro1221His) rs757707584
NM_017890.4(VPS13B):c.3666+6T>C
NM_017890.4(VPS13B):c.3667-5C>G rs886062540
NM_017890.4(VPS13B):c.3673C>G (p.Leu1225Val)
NM_017890.4(VPS13B):c.3690T>C (p.Thr1230=) rs751715193
NM_017890.4(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278
NM_017890.4(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_017890.4(VPS13B):c.3762G>C (p.Glu1254Asp)
NM_017890.4(VPS13B):c.3784A>G (p.Thr1262Ala) rs199872639
NM_017890.4(VPS13B):c.37T>C (p.Tyr13His) rs1310676971
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3813A>G (p.Thr1271=) rs775071483
NM_017890.4(VPS13B):c.3836G>A (p.Cys1279Tyr)
NM_017890.4(VPS13B):c.3839G>T (p.Ser1280Ile) rs1441125749
NM_017890.4(VPS13B):c.3860C>G (p.Thr1287Ser) rs966120122
NM_017890.4(VPS13B):c.3865A>G (p.Thr1289Ala) rs752808333
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.406C>T (p.Pro136Ser) rs757950339
NM_017890.4(VPS13B):c.4158-11A>G rs1554824890
NM_017890.4(VPS13B):c.4158-566G>C rs376982982
NM_017890.4(VPS13B):c.4158-595T>C rs1554824675
NM_017890.4(VPS13B):c.4158-632C>A rs1554824649
NM_017890.4(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419
NM_017890.4(VPS13B):c.4188A>T (p.Gln1396His) rs768432188
NM_017890.4(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.4(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4250C>G (p.Pro1417Arg) rs1554825009
NM_017890.4(VPS13B):c.4272C>G (p.Phe1424Leu) rs1554825023
NM_017890.4(VPS13B):c.4280G>A (p.Cys1427Tyr)
NM_017890.4(VPS13B):c.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4306A>G (p.Thr1436Ala)
NM_017890.4(VPS13B):c.4329T>G (p.His1443Gln) rs201349007
NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) rs371961155
NM_017890.4(VPS13B):c.4377_4379dup (p.Lys1459dup) rs1297058561
NM_017890.4(VPS13B):c.4385G>A (p.Arg1462His) rs750810791
NM_017890.4(VPS13B):c.4399T>A (p.Ser1467Thr) rs143566455
NM_017890.4(VPS13B):c.4431A>T (p.Leu1477Phe) rs61754112
NM_017890.4(VPS13B):c.4469A>T (p.His1490Leu) rs1588450228
NM_017890.4(VPS13B):c.4499_4504del (p.Asp1500_Ile1501del) rs1554826499
NM_017890.4(VPS13B):c.4526A>T (p.Asn1509Ile)
NM_017890.4(VPS13B):c.4592G>A (p.Gly1531Asp) rs140797231
NM_017890.4(VPS13B):c.4624C>T (p.Arg1542Cys)
NM_017890.4(VPS13B):c.4626C>G (p.Arg1542=) rs150376603
NM_017890.4(VPS13B):c.4633C>T (p.Pro1545Ser)
NM_017890.4(VPS13B):c.4645G>T (p.Val1549Phe) rs200774003
NM_017890.4(VPS13B):c.4697C>T (p.Pro1566Leu) rs552843068
NM_017890.4(VPS13B):c.4708+8C>G rs1554826671
NM_017890.4(VPS13B):c.4720G>A (p.Ala1574Thr) rs750053756
NM_017890.4(VPS13B):c.4751G>T (p.Gly1584Val)
NM_017890.4(VPS13B):c.4762A>G (p.Met1588Val) rs886062541
NM_017890.4(VPS13B):c.4786C>T (p.Leu1596Phe) rs1481675275
NM_017890.4(VPS13B):c.4821-7T>C rs201136777
NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) rs147342579
NM_017890.4(VPS13B):c.4838G>T (p.Gly1613Val)
NM_017890.4(VPS13B):c.4847G>A (p.Arg1616Gln) rs754267693
NM_017890.4(VPS13B):c.4871A>G (p.Asp1624Gly)
NM_017890.4(VPS13B):c.4876C>G (p.Gln1626Glu) rs1241114776
NM_017890.4(VPS13B):c.4906A>G (p.Ile1636Val)
NM_017890.4(VPS13B):c.4916C>A (p.Ala1639Glu) rs1002672196
NM_017890.4(VPS13B):c.4936C>T (p.Pro1646Ser) rs563705133
NM_017890.4(VPS13B):c.4949G>T (p.Ser1650Ile) rs1014154776
NM_017890.4(VPS13B):c.4951G>A (p.Val1651Ile) rs138577821
NM_017890.4(VPS13B):c.4962G>T (p.Gly1654=) rs747778744
NM_017890.4(VPS13B):c.5025-2dup rs1554852944
NM_017890.4(VPS13B):c.5025-9A>G rs373474658
NM_017890.4(VPS13B):c.5030G>A (p.Arg1677Gln) rs138148013
NM_017890.4(VPS13B):c.5046_5048del (p.Arg1683del) rs770497996
NM_017890.4(VPS13B):c.505C>A (p.Leu169Ile) rs376498106
NM_017890.4(VPS13B):c.5064C>A (p.Pro1688=) rs142380266
NM_017890.4(VPS13B):c.5087G>A (p.Arg1696Gln) rs565360322
NM_017890.4(VPS13B):c.5150A>G (p.Glu1717Gly) rs1588510428
NM_017890.4(VPS13B):c.5152-13G>A rs376055963
NM_017890.4(VPS13B):c.5162T>C (p.Val1721Ala) rs878852995
NM_017890.4(VPS13B):c.5168G>T (p.Gly1723Val) rs368362777
NM_017890.4(VPS13B):c.5170C>T (p.His1724Tyr)
NM_017890.4(VPS13B):c.5186A>G (p.Asn1729Ser)
NM_017890.4(VPS13B):c.5281A>G (p.Asn1761Asp) rs976129659
NM_017890.4(VPS13B):c.5287G>C (p.Ala1763Pro) rs572817378
NM_017890.4(VPS13B):c.5323G>A (p.Asp1775Asn) rs1241714095
NM_017890.4(VPS13B):c.5324A>G (p.Asp1775Gly) rs767031340
NM_017890.4(VPS13B):c.5326A>G (p.Ile1776Val)
NM_017890.4(VPS13B):c.5339G>C (p.Gly1780Ala)
NM_017890.4(VPS13B):c.5344G>A (p.Ala1782Thr) rs146540735
NM_017890.4(VPS13B):c.5360G>A (p.Arg1787His) rs587780498
NM_017890.4(VPS13B):c.5401G>T (p.Val1801Phe) rs547179338
NM_017890.4(VPS13B):c.5452C>T (p.Arg1818Cys) rs760207080
NM_017890.4(VPS13B):c.5453G>A (p.Arg1818His) rs763703607
NM_017890.4(VPS13B):c.5470C>T (p.Arg1824Cys) rs751912986
NM_017890.4(VPS13B):c.5471G>A (p.Arg1824His) rs755227174
NM_017890.4(VPS13B):c.5513_5527del (p.Asp1838_Thr1842del) rs1057519183
NM_017890.4(VPS13B):c.557A>G (p.Asp186Gly)
NM_017890.4(VPS13B):c.559C>T (p.Arg187Cys) rs367561688
NM_017890.4(VPS13B):c.560G>A (p.Arg187His) rs150941426
NM_017890.4(VPS13B):c.5647G>A (p.Asp1883Asn) rs886062542
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5683G>A (p.Val1895Met)
NM_017890.4(VPS13B):c.5687C>A (p.Thr1896Lys) rs920484397
NM_017890.4(VPS13B):c.5692G>A (p.Glu1898Lys)
NM_017890.4(VPS13B):c.56A>G (p.Lys19Arg) rs200327756
NM_017890.4(VPS13B):c.5711G>A (p.Ser1904Asn)
NM_017890.4(VPS13B):c.5738T>C (p.Ile1913Thr) rs779082817
NM_017890.4(VPS13B):c.5750C>T (p.Ser1917Phe) rs1588579775
NM_017890.4(VPS13B):c.5776A>G (p.Arg1926Gly) rs1176179128
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5836A>G (p.Thr1946Ala) rs112749780
NM_017890.4(VPS13B):c.584C>G (p.Thr195Ser) rs770738729
NM_017890.4(VPS13B):c.584C>T (p.Thr195Ile)
NM_017890.4(VPS13B):c.5852T>C (p.Leu1951Pro)
NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala) rs138930771
NM_017890.4(VPS13B):c.5890T>G (p.Leu1964Val) rs751559027
NM_017890.4(VPS13B):c.5959G>T (p.Val1987Leu) rs375399419
NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) rs148704031
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.5983+14A>C rs886062543
NM_017890.4(VPS13B):c.5983+2dup rs587777381
NM_017890.4(VPS13B):c.6073C>T (p.Pro2025Ser)
NM_017890.4(VPS13B):c.6096G>T (p.Gln2032His) rs398124335
NM_017890.4(VPS13B):c.611A>G (p.Asn204Ser) rs201363767
NM_017890.4(VPS13B):c.6122C>T (p.Ala2041Val) rs199837195
NM_017890.4(VPS13B):c.6131A>G (p.Asn2044Ser) rs534471615
NM_017890.4(VPS13B):c.6157G>C (p.Ala2053Pro) rs1310217789
NM_017890.4(VPS13B):c.621C>G (p.Asp207Glu)
NM_017890.4(VPS13B):c.6233A>G (p.His2078Arg)
NM_017890.4(VPS13B):c.6253A>G (p.Met2085Val) rs200711677
NM_017890.4(VPS13B):c.6341G>T (p.Gly2114Val) rs398124336
NM_017890.4(VPS13B):c.6349A>C (p.Lys2117Gln) rs1422079821
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6410A>G (p.Gln2137Arg)
NM_017890.4(VPS13B):c.6476C>G (p.Ser2159Cys)
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6512C>T (p.Ala2171Val) rs967172609
NM_017890.4(VPS13B):c.6562A>G (p.Ile2188Val) rs794727599
NM_017890.4(VPS13B):c.6605G>A (p.Arg2202His) rs147099791
NM_017890.4(VPS13B):c.6614T>C (p.Ile2205Thr) rs1037803923
NM_017890.4(VPS13B):c.6706A>C (p.Ile2236Leu) rs369932118
NM_017890.4(VPS13B):c.6729A>G (p.Leu2243=) rs1046756662
NM_017890.4(VPS13B):c.6743G>A (p.Gly2248Asp) rs189948782
NM_017890.4(VPS13B):c.6751C>T (p.His2251Tyr) rs747340772
NM_017890.4(VPS13B):c.6773T>G (p.Leu2258Arg) rs776873589
NM_017890.4(VPS13B):c.6788A>G (p.Asn2263Ser) rs141275433
NM_017890.4(VPS13B):c.6907C>T (p.Arg2303Trp)
NM_017890.4(VPS13B):c.7006A>G (p.Met2336Val) rs797046095
NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys) rs386834104
NM_017890.4(VPS13B):c.7054A>G (p.Ile2352Val)
NM_017890.4(VPS13B):c.710G>A (p.Arg237His) rs751804274
NM_017890.4(VPS13B):c.7115A>G (p.Asp2372Gly) rs1563881705
NM_017890.4(VPS13B):c.7126-1G>A rs930144563
NM_017890.4(VPS13B):c.7162A>C (p.Lys2388Gln) rs533701597
NM_017890.4(VPS13B):c.7163A>G (p.Lys2388Arg) rs778935189
NM_017890.4(VPS13B):c.7226C>T (p.Pro2409Leu) rs183874686
NM_017890.4(VPS13B):c.723A>C (p.Thr241=) rs778049327
NM_017890.4(VPS13B):c.7270G>A (p.Asp2424Asn) rs1563907935
NM_017890.4(VPS13B):c.7274T>C (p.Leu2425Pro)
NM_017890.4(VPS13B):c.7322+9T>C rs545008110
NM_017890.4(VPS13B):c.7323C>T (p.Ser2441=) rs886043216
NM_017890.4(VPS13B):c.7334A>G (p.Glu2445Gly)
NM_017890.4(VPS13B):c.7337C>G (p.Ser2446Cys) rs1016168403
NM_017890.4(VPS13B):c.7352C>G (p.Thr2451Ser)
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7442T>C (p.Val2481Ala)
NM_017890.4(VPS13B):c.7528T>C (p.Phe2510Leu)
NM_017890.4(VPS13B):c.7547T>G (p.Met2516Arg) rs1588704212
NM_017890.4(VPS13B):c.7551A>G (p.Pro2517=) rs913138802
NM_017890.4(VPS13B):c.7604G>A (p.Arg2535Gln)
NM_017890.4(VPS13B):c.7611G>C (p.Trp2537Cys)
NM_017890.4(VPS13B):c.7654G>A (p.Ala2552Thr) rs369062407
NM_017890.4(VPS13B):c.7685T>C (p.Val2562Ala)
NM_017890.4(VPS13B):c.7695A>C (p.Gln2565His)
NM_017890.4(VPS13B):c.7714A>G (p.Ser2572Gly)
NM_017890.4(VPS13B):c.7722C>T (p.Phe2574=) rs112634620
NM_017890.4(VPS13B):c.7735G>C (p.Val2579Leu) rs202226215
NM_017890.4(VPS13B):c.773T>C (p.Leu258Ser)
NM_017890.4(VPS13B):c.7744G>A (p.Asp2582Asn) rs773242093
NM_017890.4(VPS13B):c.7750G>T (p.Val2584Leu) rs144668374
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7778T>C (p.Ile2593Thr)
NM_017890.4(VPS13B):c.7780G>A (p.Val2594Ile)
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.7791A>G (p.Val2597=) rs981350121
NM_017890.4(VPS13B):c.7793T>C (p.Phe2598Ser)
NM_017890.4(VPS13B):c.7854+5G>T
NM_017890.4(VPS13B):c.7855-19C>T rs199981958
NM_017890.4(VPS13B):c.7867G>A (p.Glu2623Lys) rs202238616
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_017890.4(VPS13B):c.7925T>C (p.Leu2642Pro) rs1563916076
NM_017890.4(VPS13B):c.7928G>A (p.Arg2643Gln) rs569563358
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_017890.4(VPS13B):c.7941G>A (p.Val2647=) rs772064414
NM_017890.4(VPS13B):c.7955A>C (p.Asn2652Thr) rs886062544
NM_017890.4(VPS13B):c.7967C>T (p.Ala2656Val) rs768459862
NM_017890.4(VPS13B):c.7971T>A (p.Ser2657Arg) rs1563916146
NM_017890.4(VPS13B):c.7987T>C (p.Tyr2663His) rs761563766
NM_017890.4(VPS13B):c.7997G>A (p.Arg2666His) rs398124338
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8026A>G (p.Ile2676Val) rs1588732028
NM_017890.4(VPS13B):c.8044_8058del (p.Gly2682_Trp2686del) rs1554560677
NM_017890.4(VPS13B):c.8074G>A (p.Val2692Met) rs1250056053
NM_017890.4(VPS13B):c.8116G>A (p.Gly2706Ser) rs762186948
NM_017890.4(VPS13B):c.8150A>C (p.Gln2717Pro) rs1588732177
NM_017890.4(VPS13B):c.8179A>T (p.Ile2727Phe)
NM_017890.4(VPS13B):c.821T>G (p.Phe274Cys)
NM_017890.4(VPS13B):c.8234T>C (p.Val2745Ala) rs369898130
NM_017890.4(VPS13B):c.8248A>G (p.Ile2750Val) rs201127443
NM_017890.4(VPS13B):c.8252G>A (p.Gly2751Asp)
NM_017890.4(VPS13B):c.8260G>A (p.Gly2754Arg) rs794727679
NM_017890.4(VPS13B):c.8276G>A (p.Arg2759Gln) rs370701337
NM_017890.4(VPS13B):c.827G>A (p.Arg276His)
NM_017890.4(VPS13B):c.8319G>A (p.Ser2773=) rs182347753
NM_017890.4(VPS13B):c.8323A>G (p.Ile2775Val) rs1465869942
NM_017890.4(VPS13B):c.8327T>C (p.Leu2776Pro) rs1563488848
NM_017890.4(VPS13B):c.8330A>G (p.Glu2777Gly) rs1563488856
NM_017890.4(VPS13B):c.8356G>T (p.Val2786Leu) rs886062545
NM_017890.4(VPS13B):c.8395T>C (p.Cys2799Arg) rs1554565672
NM_017890.4(VPS13B):c.8428G>A (p.Val2810Ile) rs377170629
NM_017890.4(VPS13B):c.8436+12C>T rs886062546
NM_017890.4(VPS13B):c.8459T>C (p.Ile2820Thr) rs120074155
NM_017890.4(VPS13B):c.8465A>G (p.Tyr2822Cys) rs371325199
NM_017890.4(VPS13B):c.8498A>G (p.Asn2833Ser) rs368357351
NM_017890.4(VPS13B):c.8501C>G (p.Ser2834Cys) rs1588743592
NM_017890.4(VPS13B):c.8504A>C (p.Gln2835Pro) rs769551176
NM_017890.4(VPS13B):c.8524G>A (p.Val2842Met) rs1362379578
NM_017890.4(VPS13B):c.8572A>G (p.Ile2858Val) rs797046096
NM_017890.4(VPS13B):c.8573T>G (p.Ile2858Ser) rs1231452283
NM_017890.4(VPS13B):c.8574_8576del (p.Ile2859del) rs1554566693
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.865A>G (p.Ile289Val)
NM_017890.4(VPS13B):c.8708A>T (p.Asp2903Val) rs1563490033
NM_017890.4(VPS13B):c.8714C>T (p.Ser2905Leu) rs760166376
NM_017890.4(VPS13B):c.8720G>T (p.Cys2907Phe)
NM_017890.4(VPS13B):c.8746A>G (p.Ile2916Val)
NM_017890.4(VPS13B):c.8755A>G (p.Ile2919Val) rs1272294316
NM_017890.4(VPS13B):c.8808C>A (p.Phe2936Leu)
NM_017890.4(VPS13B):c.8814G>T (p.Gly2938=) rs797046097
NM_017890.4(VPS13B):c.8825C>T (p.Ser2942Leu) rs139732310
NM_017890.4(VPS13B):c.8826G>A (p.Ser2942=) rs775883776
NM_017890.4(VPS13B):c.8833C>T (p.Pro2945Ser) rs1554567542
NM_017890.4(VPS13B):c.8854_8856del rs549810522
NM_017890.4(VPS13B):c.885C>T (p.Gly295=) rs143112539
NM_017890.4(VPS13B):c.8868-12T>A rs189516672
NM_017890.4(VPS13B):c.8868-7G>A rs886062547
NM_017890.4(VPS13B):c.8868-7_8868-6delinsT rs756641209
NM_017890.4(VPS13B):c.886G>A (p.Glu296Lys) rs886062535
NM_017890.4(VPS13B):c.8917A>G (p.Ile2973Val) rs145265055
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9033T>G (p.Val3011=) rs753530965
NM_017890.4(VPS13B):c.9098C>A (p.Ala3033Glu)
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9175G>A (p.Gly3059Ser) rs778256097
NM_017890.4(VPS13B):c.9203A>G (p.Glu3068Gly)
NM_017890.4(VPS13B):c.9206A>C (p.Glu3069Ala) rs376652526
NM_017890.4(VPS13B):c.9258+6A>G rs369495448
NM_017890.4(VPS13B):c.9261A>T (p.Leu3087Phe)
NM_017890.4(VPS13B):c.9295G>A (p.Gly3099Ser) rs762740344
NM_017890.4(VPS13B):c.9320A>G (p.Asp3107Gly) rs1563492523
NM_017890.4(VPS13B):c.9342T>C (p.Asn3114=) rs886062548
NM_017890.4(VPS13B):c.934A>G (p.Thr312Ala)
NM_017890.4(VPS13B):c.9368_9370dup (p.Pro3123dup) rs1182385860
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017890.4(VPS13B):c.9414T>A (p.Arg3138=) rs78277780
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9488G>A (p.Cys3163Tyr) rs759831421
NM_017890.4(VPS13B):c.9500T>C (p.Met3167Thr) rs1044976516
NM_017890.4(VPS13B):c.9533C>A (p.Ser3178Tyr)
NM_017890.4(VPS13B):c.9538C>T (p.Leu3180Phe) rs1588761583
NM_017890.4(VPS13B):c.9592C>T (p.Gln3198Ter) rs1554573990
NM_017890.4(VPS13B):c.9605T>C (p.Leu3202Pro) rs199559979
NM_017890.4(VPS13B):c.9626A>G (p.Glu3209Gly) rs772361332
NM_017890.4(VPS13B):c.9643G>C (p.Val3215Leu) rs775768806
NM_017890.4(VPS13B):c.9658G>A (p.Gly3220Arg) rs772658121
NM_017890.4(VPS13B):c.9668G>A (p.Arg3223Gln) rs544366805
NM_017890.4(VPS13B):c.9678A>G (p.Gly3226=) rs564362618
NM_017890.4(VPS13B):c.9683G>A (p.Cys3228Tyr) rs747611342
NM_017890.4(VPS13B):c.9689+8A>T rs1554574118
NM_017890.4(VPS13B):c.968A>G (p.Gln323Arg)
NM_017890.4(VPS13B):c.9698T>C (p.Val3233Ala) rs1563499365
NM_017890.4(VPS13B):c.9720C>T (p.Leu3240=) rs373968888
NM_017890.4(VPS13B):c.9721G>A (p.Gly3241Arg) rs758775003
NM_017890.4(VPS13B):c.9761G>A (p.Arg3254Gln) rs769856598
NM_017890.4(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.9850A>C (p.Ile3284Leu)
NM_017890.4(VPS13B):c.9850A>T (p.Ile3284Phe)
NM_017890.4(VPS13B):c.9859G>A (p.Glu3287Lys) rs756531043
NM_017890.4(VPS13B):c.9905C>T (p.Pro3302Leu)
NM_017890.4(VPS13B):c.9906G>A (p.Pro3302=) rs775601813
NM_017890.4(VPS13B):c.9951T>G (p.Val3317=) rs143728471
NM_017890.4(VPS13B):c.9978G>A (p.Glu3326=) rs150573530
NM_017890.5(VPS13B):c.*1037C>A
NM_017890.5(VPS13B):c.*1211G>A
NM_017890.5(VPS13B):c.*1239C>T
NM_017890.5(VPS13B):c.*1431G>A
NM_017890.5(VPS13B):c.*1570G>A
NM_017890.5(VPS13B):c.*1571A>G
NM_017890.5(VPS13B):c.*304C>T
NM_017890.5(VPS13B):c.*438C>T
NM_017890.5(VPS13B):c.*61G>A
NM_017890.5(VPS13B):c.*637C>G
NM_017890.5(VPS13B):c.*665T>C
NM_017890.5(VPS13B):c.*701A>T
NM_017890.5(VPS13B):c.*745C>G
NM_017890.5(VPS13B):c.*831C>T
NM_017890.5(VPS13B):c.10016A>G (p.Gln3339Arg)
NM_017890.5(VPS13B):c.10136+4G>C
NM_017890.5(VPS13B):c.10178A>G (p.Gln3393Arg)
NM_017890.5(VPS13B):c.10268T>C (p.Val3423Ala)
NM_017890.5(VPS13B):c.10372C>T (p.Leu3458Phe)
NM_017890.5(VPS13B):c.10517G>T (p.Cys3506Phe)
NM_017890.5(VPS13B):c.10619A>G (p.Tyr3540Cys)
NM_017890.5(VPS13B):c.10785G>T (p.Leu3595Phe)
NM_017890.5(VPS13B):c.10801G>A (p.Ala3601Thr)
NM_017890.5(VPS13B):c.10942+11A>G
NM_017890.5(VPS13B):c.11002G>A (p.Gly3668Arg)
NM_017890.5(VPS13B):c.11033C>T (p.Pro3678Leu)
NM_017890.5(VPS13B):c.11051G>A (p.Arg3684Gln)
NM_017890.5(VPS13B):c.11077G>A (p.Val3693Ile)
NM_017890.5(VPS13B):c.11084G>A (p.Arg3695Lys)
NM_017890.5(VPS13B):c.11174G>A (p.Arg3725Gln)
NM_017890.5(VPS13B):c.11219G>A (p.Arg3740Gln)
NM_017890.5(VPS13B):c.11244C>T (p.Gly3748=)
NM_017890.5(VPS13B):c.11277C>T (p.Gly3759=)
NM_017890.5(VPS13B):c.11280C>G (p.Ile3760Met)
NM_017890.5(VPS13B):c.11319G>A (p.Pro3773=)
NM_017890.5(VPS13B):c.11431G>A (p.Gly3811Arg)
NM_017890.5(VPS13B):c.11456A>G (p.Gln3819Arg)
NM_017890.5(VPS13B):c.11510G>A (p.Arg3837His)
NM_017890.5(VPS13B):c.11546C>T (p.Pro3849Leu)
NM_017890.5(VPS13B):c.11564A>G (p.Tyr3855Cys)
NM_017890.5(VPS13B):c.11566G>A (p.Val3856Ile)
NM_017890.5(VPS13B):c.11623G>T (p.Val3875Phe)
NM_017890.5(VPS13B):c.11741T>C (p.Ile3914Thr)
NM_017890.5(VPS13B):c.11766G>C (p.Gln3922His)
NM_017890.5(VPS13B):c.11825A>T (p.Asp3942Val)
NM_017890.5(VPS13B):c.11920A>G (p.Met3974Val)
NM_017890.5(VPS13B):c.2628A>G (p.Ile876Met)
NM_017890.5(VPS13B):c.2812T>G (p.Cys938Gly)
NM_017890.5(VPS13B):c.2824G>A (p.Gly942Ser)
NM_017890.5(VPS13B):c.2843G>C (p.Ser948Thr)
NM_017890.5(VPS13B):c.2912G>A (p.Arg971Gln)
NM_017890.5(VPS13B):c.2921G>C (p.Arg974Thr)
NM_017890.5(VPS13B):c.2923C>A (p.His975Asn)
NM_017890.5(VPS13B):c.3067A>T (p.Thr1023Ser)
NM_017890.5(VPS13B):c.3088C>T (p.Arg1030Cys)
NM_017890.5(VPS13B):c.3089G>A (p.Arg1030His)
NM_017890.5(VPS13B):c.3244A>C (p.Asn1082His)
NM_017890.5(VPS13B):c.3332C>T (p.Pro1111Leu)
NM_017890.5(VPS13B):c.3341T>C (p.Leu1114Pro)
NM_017890.5(VPS13B):c.3354G>T (p.Leu1118Phe)
NM_017890.5(VPS13B):c.3379G>T (p.Gly1127Trp)
NM_017890.5(VPS13B):c.3564G>T (p.Thr1188=)
NM_017890.5(VPS13B):c.3641T>A (p.Leu1214Gln)
NM_017890.5(VPS13B):c.3650A>C (p.Lys1217Thr)
NM_017890.5(VPS13B):c.3766A>G (p.Met1256Val)
NM_017890.5(VPS13B):c.3768G>A (p.Met1256Ile)
NM_017890.5(VPS13B):c.3790C>T (p.Pro1264Ser)
NM_017890.5(VPS13B):c.3799A>C (p.Ser1267Arg)
NM_017890.5(VPS13B):c.3802A>T (p.Ser1268Cys)
NM_017890.5(VPS13B):c.3862A>G (p.Thr1288Ala)
NM_017890.5(VPS13B):c.3870+5G>A
NM_017890.5(VPS13B):c.3962G>A (p.Arg1321His)
NM_017890.5(VPS13B):c.4045G>T (p.Val1349Phe)
NM_017890.5(VPS13B):c.4132T>G (p.Phe1378Val)
NM_017890.5(VPS13B):c.4157+5A>G
NM_017890.5(VPS13B):c.4255A>G (p.Ser1419Gly)
NM_017890.5(VPS13B):c.4275T>G (p.Ser1425Arg)
NM_017890.5(VPS13B):c.4337A>T (p.His1446Leu)
NM_017890.5(VPS13B):c.4491A>T (p.Gln1497His)
NM_017890.5(VPS13B):c.4495T>G (p.Phe1499Val)
NM_017890.5(VPS13B):c.4499A>G (p.Asp1500Gly)
NM_017890.5(VPS13B):c.4527T>C (p.Asn1509=)
NM_017890.5(VPS13B):c.4564A>G (p.Thr1522Ala)
NM_017890.5(VPS13B):c.4664G>A (p.Arg1555Lys)
NM_017890.5(VPS13B):c.4708+4T>C
NM_017890.5(VPS13B):c.4810G>T (p.Asp1604Tyr)
NM_017890.5(VPS13B):c.4821-13G>A
NM_017890.5(VPS13B):c.4821-3C>A
NM_017890.5(VPS13B):c.4923G>C (p.Trp1641Cys)
NM_017890.5(VPS13B):c.4937C>T (p.Pro1646Leu)
NM_017890.5(VPS13B):c.5021_5022delinsAA (p.Ser1674Lys)
NM_017890.5(VPS13B):c.5022C>T (p.Ser1674=)
NM_017890.5(VPS13B):c.5065G>A (p.Val1689Ile)
NM_017890.5(VPS13B):c.5129C>T (p.Ser1710Phe)
NM_017890.5(VPS13B):c.5195C>T (p.Thr1732Ile)
NM_017890.5(VPS13B):c.5205C>G (p.Asp1735Glu)
NM_017890.5(VPS13B):c.5212C>G (p.Leu1738Val)
NM_017890.5(VPS13B):c.5260A>G (p.Met1754Val)
NM_017890.5(VPS13B):c.5298C>A (p.Ile1766=)
NM_017890.5(VPS13B):c.5310A>C (p.Glu1770Asp)
NM_017890.5(VPS13B):c.5319A>C (p.Lys1773Asn)
NM_017890.5(VPS13B):c.5359C>T (p.Arg1787Cys)
NM_017890.5(VPS13B):c.5464C>T (p.Pro1822Ser)
NM_017890.5(VPS13B):c.5497A>C (p.Asn1833His)
NM_017890.5(VPS13B):c.5547G>A (p.Met1849Ile)
NM_017890.5(VPS13B):c.5564C>G (p.Ala1855Gly)
NM_017890.5(VPS13B):c.5603A>T (p.Glu1868Val)
NM_017890.5(VPS13B):c.5704A>G (p.Arg1902Gly)
NM_017890.5(VPS13B):c.6006A>T (p.Glu2002Asp)
NM_017890.5(VPS13B):c.6098T>A (p.Ile2033Asn)
NM_017890.5(VPS13B):c.6170T>G (p.Phe2057Cys)
NM_017890.5(VPS13B):c.6216T>C (p.Asn2072=)
NM_017890.5(VPS13B):c.6218C>T (p.Ala2073Val)
NM_017890.5(VPS13B):c.6305G>A (p.Arg2102His)
NM_017890.5(VPS13B):c.6337G>A (p.Asp2113Asn)
NM_017890.5(VPS13B):c.6372G>T (p.Met2124Ile)
NM_017890.5(VPS13B):c.6386C>T (p.Ser2129Phe)
NM_017890.5(VPS13B):c.6528T>G (p.Pro2176=)
NM_017890.5(VPS13B):c.6557T>C (p.Leu2186Pro)
NM_017890.5(VPS13B):c.6605G>T (p.Arg2202Leu)
NM_017890.5(VPS13B):c.6613A>G (p.Ile2205Val)
NM_017890.5(VPS13B):c.6640C>A (p.Leu2214Met)
NM_017890.5(VPS13B):c.6649A>G (p.Lys2217Glu)
NM_017890.5(VPS13B):c.6666C>T (p.Ser2222=)
NM_017890.5(VPS13B):c.6677G>T (p.Gly2226Val)
NM_017890.5(VPS13B):c.6727C>A (p.Leu2243Ile)
NM_017890.5(VPS13B):c.6773T>C (p.Leu2258Pro)
NM_017890.5(VPS13B):c.6783A>T (p.Leu2261Phe)
NM_017890.5(VPS13B):c.6827T>C (p.Val2276Ala)
NM_017890.5(VPS13B):c.6908G>A (p.Arg2303Gln)
NM_017890.5(VPS13B):c.6923A>T (p.Gln2308Leu)
NM_017890.5(VPS13B):c.6941-14C>A
NM_017890.5(VPS13B):c.6965A>C (p.Tyr2322Ser)
NM_017890.5(VPS13B):c.6980A>G (p.Tyr2327Cys)
NM_017890.5(VPS13B):c.6994G>A (p.Asp2332Asn)
NM_017890.5(VPS13B):c.7203C>A (p.Ser2401Arg)
NM_017890.5(VPS13B):c.7226C>G (p.Pro2409Arg)
NM_017890.5(VPS13B):c.7231A>G (p.Ile2411Val)
NM_017890.5(VPS13B):c.7234A>C (p.Asn2412His)
NM_017890.5(VPS13B):c.7240G>A (p.Val2414Met)
NM_017890.5(VPS13B):c.7310C>G (p.Ala2437Gly)
NM_017890.5(VPS13B):c.7318C>A (p.Gln2440Lys)
NM_017890.5(VPS13B):c.7366G>A (p.Val2456Met)
NM_017890.5(VPS13B):c.7536C>T (p.Ser2512=)
NM_017890.5(VPS13B):c.7552T>A (p.Ser2518Thr)
NM_017890.5(VPS13B):c.7762C>G (p.Leu2588Val)
NM_017890.5(VPS13B):c.7825C>G (p.Leu2609Val)
NM_017890.5(VPS13B):c.8006A>G (p.Lys2669Arg)
NM_017890.5(VPS13B):c.8017C>G (p.Leu2673Val)
NM_017890.5(VPS13B):c.8033T>C (p.Ile2678Thr)
NM_017890.5(VPS13B):c.8086G>A (p.Gly2696Arg)
NM_017890.5(VPS13B):c.8134A>G (p.Ile2712Val)
NM_017890.5(VPS13B):c.8177T>C (p.Ile2726Thr)
NM_017890.5(VPS13B):c.8185G>A (p.Gly2729Arg)
NM_017890.5(VPS13B):c.8293C>T (p.Leu2765Phe)
NM_017890.5(VPS13B):c.8345C>T (p.Thr2782Met)
NM_017890.5(VPS13B):c.8480T>C (p.Val2827Ala)
NM_017890.5(VPS13B):c.8602T>A (p.Leu2868Met)
NM_017890.5(VPS13B):c.8668C>G (p.Leu2890Val)
NM_017890.5(VPS13B):c.8696+4C>T
NM_017890.5(VPS13B):c.8722G>T (p.Ala2908Ser)
NM_017890.5(VPS13B):c.8767G>A (p.Val2923Ile)
NM_017890.5(VPS13B):c.8872G>A (p.Glu2958Lys)
NM_017890.5(VPS13B):c.8900T>C (p.Met2967Thr)
NM_017890.5(VPS13B):c.8903G>A (p.Arg2968Gln)
NM_017890.5(VPS13B):c.9056C>T (p.Pro3019Leu)
NM_017890.5(VPS13B):c.9058C>A (p.Pro3020Thr)
NM_017890.5(VPS13B):c.9088A>G (p.Ile3030Val)
NM_017890.5(VPS13B):c.9098C>T (p.Ala3033Val)
NM_017890.5(VPS13B):c.9267G>C (p.Gln3089His)
NM_017890.5(VPS13B):c.9281C>T (p.Ser3094Phe)
NM_017890.5(VPS13B):c.9334A>C (p.Ile3112Leu)
NM_017890.5(VPS13B):c.9338A>G (p.Asn3113Ser)
NM_017890.5(VPS13B):c.9368C>A (p.Pro3123Gln)
NM_017890.5(VPS13B):c.9388C>A (p.Pro3130Thr)
NM_017890.5(VPS13B):c.9413G>A (p.Arg3138His)
NM_017890.5(VPS13B):c.9466_9471dup (p.Met3156_Lys3157dup)
NM_017890.5(VPS13B):c.9575C>T (p.Pro3192Leu)
NM_017890.5(VPS13B):c.9603C>G (p.Ser3201Arg)
NM_017890.5(VPS13B):c.9682T>C (p.Cys3228Arg)
NM_017890.5(VPS13B):c.9823C>G (p.Pro3275Ala)
NM_017890.5(VPS13B):c.9824C>T (p.Pro3275Leu)
NM_017890.5(VPS13B):c.9857C>G (p.Ser3286Cys)
NM_017890.5(VPS13B):c.9925T>G (p.Leu3309Val)
NM_152564.4(VPS13B):c.*1101_*1104TGAT[3] rs543048641
NM_152564.4(VPS13B):c.10175_10177ACA[1] (p.Asn3393del) rs1554581280
NM_152564.4(VPS13B):c.11134_11136GAG[1] (p.Glu3713del) rs781133717
NM_152564.4(VPS13B):c.11223T>G (p.Ile3741Met) rs267601674
NM_152564.4(VPS13B):c.11783_11785ACA[1] (p.Asn3929del) rs1554590369
NM_152564.4(VPS13B):c.11838_11840TTC[1] (p.Ser3948del) rs1554590420
NM_152564.4(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.4(VPS13B):c.4218_4222dup (p.Val1408fs) rs1554824678
NM_152564.4(VPS13B):c.4224+568_4224+569delinsAAG rs1554824897
NM_152564.4(VPS13B):c.4224+609C>T rs398124333
NM_152564.4(VPS13B):c.4224+637_4224+640dup rs1554824976
NM_152564.4(VPS13B):c.4224+698dup rs1427643616
NM_152564.4(VPS13B):c.6887T>C (p.Val2296Ala) rs727504218

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