ClinVar Miner

List of variants in gene VPS13B studied for Cohen syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 640
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HGVS dbSNP
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
NC_000008.11:g.(?_99013769)_(99121507_?)dup
NC_000008.11:g.(?_99096292)_(99156763_?)del
NC_000008.11:g.(?_99096292)_(99193077_?)del
NC_000008.11:g.(?_99115680)_(99193077_?)del
NC_000008.11:g.(?_99121157)_(99193077_?)del
NC_000008.11:g.(?_99134612)_(99136772_?)del
NC_000008.11:g.(?_99209572)_(99391724_?)del
NC_000008.11:g.(?_99556430)_(99642518_?)del
NG_007098.2:g.459245_459246ins5
NG_007098.2:g.758511_758512ins5
NG_007098.2:g.768573_768574ins5 rs1554952465
NM_015243.2(VPS13B):c.160C>T (p.Pro54Ser)
NM_015243.2(VPS13B):c.1652-9T>A
NM_017890.4(VPS13B):c.*1105_*1108dupTGAT rs543048641
NM_017890.4(VPS13B):c.*1106_*1108dupGAT rs765534822
NM_017890.4(VPS13B):c.*1207G>C rs182082022
NM_017890.4(VPS13B):c.*1212_*1215dupTCTC rs1258731393
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_*1507dupCTTT rs747583708
NM_017890.4(VPS13B):c.*1540T>C rs148026916
NM_017890.4(VPS13B):c.*1783C>T rs7157
NM_017890.4(VPS13B):c.*202T>A rs201566966
NM_017890.4(VPS13B):c.*250_*252dupACA rs71274940
NM_017890.4(VPS13B):c.*270C>T rs886062550
NM_017890.4(VPS13B):c.*305G>A rs149912942
NM_017890.4(VPS13B):c.*33_*36dupGATT rs373852425
NM_017890.4(VPS13B):c.*378_*381delATTT rs374440758
NM_017890.4(VPS13B):c.*434_*436delTTA rs10542428
NM_017890.4(VPS13B):c.*597_*598dupTT rs397791669
NM_017890.4(VPS13B):c.*702dupT rs200421894
NM_017890.4(VPS13B):c.*703_*705delGAT rs60078732
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.10009_10017+5del14 rs1554575693
NM_017890.4(VPS13B):c.10015_10016insTTT (p.Gln3339_Asp3673delinsLeuTer) rs1301330402
NM_017890.4(VPS13B):c.10017+1G>A rs1057517063
NM_017890.4(VPS13B):c.10017+1G>T rs1057517063
NM_017890.4(VPS13B):c.10017+9G>T rs942110632
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
NM_017890.4(VPS13B):c.10018G>T (p.Val3340Phe) rs116746734
NM_017890.4(VPS13B):c.10018_10021delGTTG (p.Val3340Cysfs) rs1554579522
NM_017890.4(VPS13B):c.1001delA (p.Tyr334Phefs) rs1057516324
NM_017890.4(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_017890.4(VPS13B):c.10076_10077delCA (p.Thr3359Serfs) rs386834054
NM_017890.4(VPS13B):c.10086C>G (p.Ile3362Met) rs542986432
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10136+1G>A rs1200459145
NM_017890.4(VPS13B):c.10137-2A>G rs1554581156
NM_017890.4(VPS13B):c.10140G>T (p.Ala3380=) rs61753726
NM_017890.4(VPS13B):c.10144G>A (p.Glu3382Lys)
NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs) rs386834055
NM_017890.4(VPS13B):c.10175C>A (p.Thr3392Asn) rs759636784
NM_017890.4(VPS13B):c.10181T>G (p.Leu3394Ter) rs1057516437
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) rs115369860
NM_017890.4(VPS13B):c.10241_10242delTC (p.Leu3414Hisfs) rs1554581267
NM_017890.4(VPS13B):c.10244C>T (p.Thr3415Ile)
NM_017890.4(VPS13B):c.10253_10255delACA (p.Asn3418del) rs1554581280
NM_017890.4(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10360dup (p.Leu3454Profs)
NM_017890.4(VPS13B):c.1040delC (p.Ser347Tyrfs) rs1057516971
NM_017890.4(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_017890.4(VPS13B):c.10427_10429delCAG (p.Ala3476del) rs1554581420
NM_017890.4(VPS13B):c.10436_10439delTTCA (p.Ile3479Serfs) rs1554581430
NM_017890.4(VPS13B):c.10456_10457delAG (p.Leu3487Profs) rs180177371
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.10515_10516del (p.Cys3506Hisfs) rs1554581504
NM_017890.4(VPS13B):c.10620C>A (p.Tyr3540Ter)
NM_017890.4(VPS13B):c.10629_10632TTTG[1] (p.Phe3545Thrfs)
NM_017890.4(VPS13B):c.10630_10631delTT (p.Leu3544Valfs) rs1554581632
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.10679_10680delAC (p.His3560Profs) rs1554581676
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.1071_1074delGAGT (p.Ser358Metfs) rs1554625693
NM_017890.4(VPS13B):c.10748dupT (p.Lys3584Glufs) rs1057517137
NM_017890.4(VPS13B):c.10757G>A (p.Arg3586Gln) rs549125520
NM_017890.4(VPS13B):c.1079_1080delACinsG (p.Asp360Glyfs) rs1057516274
NM_017890.4(VPS13B):c.107delTinsAA (p.Val36Glufs) rs1554561356
NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) rs1057520769
NM_017890.4(VPS13B):c.10830C>T (p.Asp3610=) rs145950999
NM_017890.4(VPS13B):c.10841_10844delTCTC (p.Leu3614Profs) rs386834056
NM_017890.4(VPS13B):c.10847_10849delTCT (p.Phe3616del) rs1554581821
NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter) rs120074154
NM_017890.4(VPS13B):c.10896G>A (p.Val3632=) rs1554581864
NM_017890.4(VPS13B):c.10943-2A>C rs745404712
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
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.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11014G>A (p.Ala3672Thr)
NM_017890.4(VPS13B):c.1108G>C (p.Asp370His) rs748531719
NM_017890.4(VPS13B):c.11119+13G>A rs116819080
NM_017890.4(VPS13B):c.11119+2T>C rs587777382
NM_017890.4(VPS13B):c.11125delC (p.Leu3709Serfs) rs386834058
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) rs757726642
NM_017890.4(VPS13B):c.11169_11172dupGGAC (p.Arg3725Glyfs) rs386834059
NM_017890.4(VPS13B):c.11180_11189del10 (p.Ser3727Trpfs) rs1057517202
NM_017890.4(VPS13B):c.11212_11214delGAG (p.Glu3738del) rs781133717
NM_017890.4(VPS13B):c.11216G>A (p.Trp3739Ter) rs386834060
NM_017890.4(VPS13B):c.11218C>T (p.Arg3740Trp) rs772640414
NM_017890.4(VPS13B):c.11237_11238delGC (p.Ser3746Thrfs) rs1057517376
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11291-1G>A rs1057517441
NM_017890.4(VPS13B):c.11291-2A>G rs867112705
NM_017890.4(VPS13B):c.11298T>G (p.Ile3766Met) rs267601674
NM_017890.4(VPS13B):c.11311delG (p.Asp3771Ilefs) rs1347701279
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11338delA (p.Thr3780Hisfs) rs1057516245
NM_017890.4(VPS13B):c.11350C>G (p.Gln3784Glu) rs797046093
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.11435delG (p.Gly3812Glufs) rs1554586972
NM_017890.4(VPS13B):c.11455_11456delCA (p.Gln3819Aspfs) rs1554586994
NM_017890.4(VPS13B):c.11467+1G>T rs1554587021
NM_017890.4(VPS13B):c.11468-1G>A rs747363890
NM_017890.4(VPS13B):c.11505delA (p.Lys3835Asnfs) rs386834062
NM_017890.4(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_017890.4(VPS13B):c.11546_11549delCAAAinsTGT (p.Pro3849Leufs) rs1057516284
NM_017890.4(VPS13B):c.11549A>G (p.Asn3850Ser) rs199741560
NM_017890.4(VPS13B):c.11556dupT (p.Val3853Cysfs) rs386834063
NM_017890.4(VPS13B):c.11564delA (p.Tyr3855Leufs) rs386834064
NM_017890.4(VPS13B):c.11566_11568dup (p.Val3856_Trp3857insVal) rs1554588147
NM_017890.4(VPS13B):c.11571-2A>G rs1554588353
NM_017890.4(VPS13B):c.11576delT (p.Met3859Serfs) rs1394681818
NM_017890.4(VPS13B):c.11595delA (p.Arg3865Serfs) rs747217399
NM_017890.4(VPS13B):c.11598delA (p.Glu3867Lysfs) rs386834065
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.11650delC (p.His3884Metfs) rs1057516651
NM_017890.4(VPS13B):c.11658dupG (p.Cys3887Valfs) rs1057517438
NM_017890.4(VPS13B):c.11675C>A (p.Ser3892Ter) rs1057517385
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11695_11696delAG (p.Ser3899Cysfs) rs1554588477
NM_017890.4(VPS13B):c.11695_11698delAGTG (p.Ser3901Argfs) rs386834066
NM_017890.4(VPS13B):c.11705_11706delAGinsC (p.Glu3902Alafs) rs1554588489
NM_017890.4(VPS13B):c.11731G>A (p.Val3911Ile) rs141793014
NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys) rs386834067
NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAGAA (p.Thr3927Lysfs) rs386834067
NM_017890.4(VPS13B):c.11807C>T (p.Ala3936Val)
NM_017890.4(VPS13B):c.11820+5G>A rs398124328
NM_017890.4(VPS13B):c.11821-1G>A rs372327659
NM_017890.4(VPS13B):c.11823_11826dup (p.Gly3943Argfs) rs1554590314
NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp) rs386834068
NM_017890.4(VPS13B):c.11833C>T (p.Arg3945Ter) rs933746831
NM_017890.4(VPS13B):c.11834G>A (p.Arg3945Gln) rs147907236
NM_017890.4(VPS13B):c.11861_11863delACA (p.Asn3954del) rs1554590369
NM_017890.4(VPS13B):c.1187delA (p.Lys396Argfs) rs1554625872
NM_017890.4(VPS13B):c.11889_11891dup (p.Ser3964_Cys3965insSer) rs1236948038
NM_017890.4(VPS13B):c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) rs386834069
NM_017890.4(VPS13B):c.11906_11916delCCAGCTGTTCTinsG (p.Pro3969Argfs) rs786204456
NM_017890.4(VPS13B):c.11907dupC (p.Ser3970Glnfs) rs180177374
NM_017890.4(VPS13B):c.11913T>A (p.Cys3971Ter) rs773094891
NM_017890.4(VPS13B):c.11916_11918delTTC (p.Ser3973del) rs1554590420
NM_017890.4(VPS13B):c.11925_11928dup (p.Pro3977Asnfs) rs1554590433
NM_017890.4(VPS13B):c.11955dupT (p.Pro3986Serfs) rs1057517328
NM_017890.4(VPS13B):c.11959C>G (p.Pro3987Ala) rs201483764
NM_017890.4(VPS13B):c.11960C>G (p.Pro3987Arg)
NM_017890.4(VPS13B):c.11967_11970dup (p.Lys3991Cysfs) rs1554590486
NM_017890.4(VPS13B):c.11972A>T (p.Lys3991Ile) rs117934093
NM_017890.4(VPS13B):c.11981_11986dup (p.Tyr3995_Leu3996insHisTyr) rs1554590515
NM_017890.4(VPS13B):c.11982_11983insG (p.Tyr3995Valfs) rs1554590537
NM_017890.4(VPS13B):c.12042_12045dup (p.Ala4016Terfs) rs769983613
NM_017890.4(VPS13B):c.1206+19_1206+34del16 rs750619814
NM_017890.4(VPS13B):c.1206+23T>A rs745316537
NM_017890.4(VPS13B):c.1206+40T>C rs1554625938
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_017890.4(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1261_1272del12 (p.Lys421_Leu424del) rs1554633843
NM_017890.4(VPS13B):c.1269_1273delATTGT (p.Cys425Glyfs) rs386834072
NM_017890.4(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147
NM_017890.4(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_017890.4(VPS13B):c.1302+2dup rs766708621
NM_017890.4(VPS13B):c.1303-1G>C rs1554634091
NM_017890.4(VPS13B):c.1306delC (p.Met437Terfs) rs1408744761
NM_017890.4(VPS13B):c.1334_1335delGCinsTT (p.Cys445Phe)
NM_017890.4(VPS13B):c.1418delG (p.Ser473Metfs)
NM_017890.4(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_017890.4(VPS13B):c.147+1G>A rs1057517029
NM_017890.4(VPS13B):c.1495_1498delTTTG (p.Phe499Ilefs) rs1057517319
NM_017890.4(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354
NM_017890.4(VPS13B):c.1529G>A (p.Arg510His) rs771667880
NM_017890.4(VPS13B):c.1536A>G (p.Glu512=) rs145969836
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.1563+1G>A rs1057516923
NM_017890.4(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536
NM_017890.4(VPS13B):c.1664_1671del8 (p.Gln555Leufs) rs1057517177
NM_017890.4(VPS13B):c.1666C>G (p.Gln556Glu) rs1554639027
NM_017890.4(VPS13B):c.1669delG (p.Asp557Thrfs) rs1057517283
NM_017890.4(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_017890.4(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_017890.4(VPS13B):c.1776T>C (p.His592=) rs756818683
NM_017890.4(VPS13B):c.1782T>C (p.Ile594=) rs145648860
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.1843+10T>C rs371154826
NM_017890.4(VPS13B):c.1844-2A>G rs386834073
NM_017890.4(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329
NM_017890.4(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537
NM_017890.4(VPS13B):c.2009_2013del5 (p.Lys671Leufs) rs1057517338
NM_017890.4(VPS13B):c.2037_2039delTAC (p.Thr680del) rs1554645561
NM_017890.4(VPS13B):c.2047delC (p.Gln683Serfs) rs386834074
NM_017890.4(VPS13B):c.2048A>T (p.Gln683Leu)
NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_017890.4(VPS13B):c.2091A>T (p.Lys697Asn)
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.2158C>T (p.Gln720Ter) rs777593389
NM_017890.4(VPS13B):c.219_220delACinsT (p.Lys73Asnfs) rs386834075
NM_017890.4(VPS13B):c.2268delT (p.Val757Tyrfs) rs1057516532
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_017890.4(VPS13B):c.22_23delCCinsA (p.Pro8Lysfs) rs386834076
NM_017890.4(VPS13B):c.2333+2T>C rs1554652265
NM_017890.4(VPS13B):c.2334-2A>G rs1554665974
NM_017890.4(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_017890.4(VPS13B):c.2356A>G (p.Ile786Val) rs202052403
NM_017890.4(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_017890.4(VPS13B):c.2472C>T (p.Ser824=) rs766373133
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_017890.4(VPS13B):c.2515+16596_2515+16608del13 rs1554674064
NM_017890.4(VPS13B):c.2515+16609T>G rs1554674081
NM_017890.4(VPS13B):c.2515+37177T>C rs207469599
NM_017890.4(VPS13B):c.2516-2A>G rs1554706114
NM_017890.4(VPS13B):c.2535C>T (p.Pro845=) rs1241992024
NM_017890.4(VPS13B):c.2552_2559del8 (p.Gly851Alafs) rs1554706149
NM_017890.4(VPS13B):c.2583C>T (p.Cys861=) rs199868590
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2650+1G>A rs1554706285
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2651-12A>G rs886062538
NM_017890.4(VPS13B):c.2651-1G>A rs386834077
NM_017890.4(VPS13B):c.2655T>C (p.Asp885=) rs769466569
NM_017890.4(VPS13B):c.2673G>T (p.Leu891Phe) rs770484465
NM_017890.4(VPS13B):c.2691_2692delTCinsAAT (p.Pro898Ilefs) rs1554706662
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2727_2730dupGCTC (p.Asn911Alafs) rs180177357
NM_017890.4(VPS13B):c.2748A>G (p.Pro916=) rs144830924
NM_017890.4(VPS13B):c.2752T>C (p.Ser918Pro) rs886062539
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2765C>T (p.Pro922Leu)
NM_017890.4(VPS13B):c.2785A>G (p.Ile929Val) rs1222718209
NM_017890.4(VPS13B):c.2816delAinsCC (p.His939Profs) rs1057517255
NM_017890.4(VPS13B):c.2823C>T (p.Ser941=) rs199881514
NM_017890.4(VPS13B):c.2824+2T>C rs141703746
NM_017890.4(VPS13B):c.2828delC (p.Ala943Valfs) rs1554765140
NM_017890.4(VPS13B):c.2830G>T (p.Val944Leu) rs753607562
NM_017890.4(VPS13B):c.2855delT (p.Leu952Glnfs) rs1554765173
NM_017890.4(VPS13B):c.2880A>T (p.Leu960Phe)
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.291+1G>A rs1057516857
NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152
NM_017890.4(VPS13B):c.292-2A>G rs386834079
NM_017890.4(VPS13B):c.292-7A>G rs1554612610
NM_017890.4(VPS13B):c.2932C>T (p.Gln978Ter)
NM_017890.4(VPS13B):c.2934+14A>T rs187151724
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.2935-4C>T rs207469601
NM_017890.4(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948
NM_017890.4(VPS13B):c.3020delA (p.Lys1007Serfs) rs1554767735
NM_017890.4(VPS13B):c.3027_3045dup19 (p.Tyr1016Ilefs) rs1057516670
NM_017890.4(VPS13B):c.3072_3073delAAinsT (p.Lys1024Asnfs) rs1057516834
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3082+2T>C rs1188811827
NM_017890.4(VPS13B):c.3083-2A>C rs1456528242
NM_017890.4(VPS13B):c.3083-8G>A
NM_017890.4(VPS13B):c.3083-9C>T rs376659281
NM_017890.4(VPS13B):c.3096delG (p.Leu1032Phefs) rs1554788238
NM_017890.4(VPS13B):c.3104delC (p.Pro1035Leufs) rs1057516926
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3118T>A (p.Leu1040Met)
NM_017890.4(VPS13B):c.3133delA (p.Ser1045Alafs) rs1057517447
NM_017890.4(VPS13B):c.3200T>C (p.Leu1067Pro)
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=)
NM_017890.4(VPS13B):c.3211-11T>C rs77129176
NM_017890.4(VPS13B):c.3240delT (p.Pro1081Glnfs) rs764544747
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) rs200982547
NM_017890.4(VPS13B):c.3348_3349delCT (p.Cys1117Phefs) rs180177327
NM_017890.4(VPS13B):c.3349dup (p.Cys1117Leufs) rs1554793521
NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_017890.4(VPS13B):c.3402_3437del36 (p.Gln1135_Leu1146del) rs1554793589
NM_017890.4(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701
NM_017890.4(VPS13B):c.3445+1G>T rs1034855385
NM_017890.4(VPS13B):c.3482T>G (p.Phe1161Cys)
NM_017890.4(VPS13B):c.3503delGinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_017890.4(VPS13B):c.358A>G (p.Ile120Val) rs201147123
NM_017890.4(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_017890.4(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_017890.4(VPS13B):c.3666+1G>T rs1554807146
NM_017890.4(VPS13B):c.3666+2T>A rs386834082
NM_017890.4(VPS13B):c.3666+2T>C rs386834082
NM_017890.4(VPS13B):c.3667-1G>A rs750609612
NM_017890.4(VPS13B):c.3667-5C>G rs886062540
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.366G>A (p.Pro122=) rs373340298
NM_017890.4(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_017890.4(VPS13B):c.3686dup (p.Thr1230Asnfs) rs1554814271
NM_017890.4(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) rs16897391
NM_017890.4(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_017890.4(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_017890.4(VPS13B):c.3782delC (p.Pro1261Leufs) rs753645306
NM_017890.4(VPS13B):c.3784A>G (p.Thr1262Ala)
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.3827C>T (p.Thr1276Ile) rs567003932
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
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.3902dupC (p.Phe1302Ilefs) rs1057516653
NM_017890.4(VPS13B):c.3948A>G (p.Gly1316=) rs975356010
NM_017890.4(VPS13B):c.4042+2T>C rs1554822819
NM_017890.4(VPS13B):c.404dupT (p.Leu135Phefs) rs386834083
NM_017890.4(VPS13B):c.406C>T (p.Pro136Ser) rs757950339
NM_017890.4(VPS13B):c.412+1G>A rs1057517295
NM_017890.4(VPS13B):c.4158-11A>G rs1554824890
NM_017890.4(VPS13B):c.4158-561A>G rs1173901763
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.4158-633G>A rs1554824647
NM_017890.4(VPS13B):c.4158-649A>C rs1554824637
NM_017890.4(VPS13B):c.4159_4160delCTinsAAG (p.Leu1387Lysfs) rs1554824897
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.4194A>T (p.Gly1398=) rs1554824934
NM_017890.4(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.4(VPS13B):c.4197T>C (p.Gly1399=) rs149796549
NM_017890.4(VPS13B):c.4215T>G (p.Thr1405=) rs1455372294
NM_017890.4(VPS13B):c.4228_4231dup (p.Arg1411Glnfs) rs1554824976
NM_017890.4(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.4(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.4248A>G (p.Arg1416=) rs1554825004
NM_017890.4(VPS13B):c.424_425delAG (p.Leu143Aspfs) rs1057517076
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.4289dup (p.Phe1431Leufs) rs1427643616
NM_017890.4(VPS13B):c.4299+17A>T rs1554825046
NM_017890.4(VPS13B):c.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4329T>G (p.His1443Gln)
NM_017890.4(VPS13B):c.4334delA (p.Gln1445Argfs) rs386834084
NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) rs371961155
NM_017890.4(VPS13B):c.436C>T (p.Arg146Ter) rs144539572
NM_017890.4(VPS13B):c.4396dupA (p.Thr1466Asnfs) rs386834085
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) rs120074151
NM_017890.4(VPS13B):c.4474delA (p.Ile1492Phefs) rs386834087
NM_017890.4(VPS13B):c.4480_4482delCTT (p.Leu1494del) rs386834088
NM_017890.4(VPS13B):c.4499_4504del6 (p.Asp1500_Ile1501del) rs1554826499
NM_017890.4(VPS13B):c.4572dupA (p.Glu1525Argfs) rs386834089
NM_017890.4(VPS13B):c.4592G>A (p.Gly1531Asp) rs140797231
NM_017890.4(VPS13B):c.4614_4615delAC (p.Leu1539Aspfs) rs1554826566
NM_017890.4(VPS13B):c.4626C>G (p.Arg1542=) rs150376603
NM_017890.4(VPS13B):c.467_470delATAA (p.Asn156Ilefs) rs386834090
NM_017890.4(VPS13B):c.4720G>A (p.Ala1574Thr)
NM_017890.4(VPS13B):c.4762A>G (p.Met1588Val) rs886062541
NM_017890.4(VPS13B):c.4803T>C (p.Leu1601=) rs1158360713
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
NM_017890.4(VPS13B):c.4821-14C>T rs112780006
NM_017890.4(VPS13B):c.4821-1G>T rs768342041
NM_017890.4(VPS13B):c.4821-2A>T rs1554843814
NM_017890.4(VPS13B):c.4821-7T>C rs201136777
NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) rs147342579
NM_017890.4(VPS13B):c.4846C>T (p.Arg1616Ter) rs752429062
NM_017890.4(VPS13B):c.4847G>A (p.Arg1616Gln) rs754267693
NM_017890.4(VPS13B):c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer) rs180177359
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) rs180177360
NM_017890.4(VPS13B):c.4936C>T (p.Pro1646Ser) rs563705133
NM_017890.4(VPS13B):c.4962G>T (p.Gly1654=)
NM_017890.4(VPS13B):c.5024+2T>C
NM_017890.4(VPS13B):c.5025-1G>C rs1554852945
NM_017890.4(VPS13B):c.5025-2dup rs1554852944
NM_017890.4(VPS13B):c.5030G>A (p.Arg1677Gln) rs138148013
NM_017890.4(VPS13B):c.5046_5048delGAG (p.Arg1683del) rs770497996
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5152-13G>A rs376055963
NM_017890.4(VPS13B):c.5168G>T (p.Gly1723Val) rs368362777
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5229delTinsCC (p.Gln1744Profs) rs1554853667
NM_017890.4(VPS13B):c.5244delG (p.Gln1748Hisfs) rs1554853676
NM_017890.4(VPS13B):c.5323G>A (p.Asp1775Asn)
NM_017890.4(VPS13B):c.5331dupT (p.Asp1778Terfs) rs386834094
NM_017890.4(VPS13B):c.5334dupT (p.Gly1779Trpfs) rs786204533
NM_017890.4(VPS13B):c.5344G>A (p.Ala1782Thr) rs146540735
NM_017890.4(VPS13B):c.5409delC (p.Arg1804Glufs) rs763909903
NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) rs180177363
NM_017890.4(VPS13B):c.5453G>A (p.Arg1818His) rs763703607
NM_017890.4(VPS13B):c.5461dupC (p.Arg1821Profs) rs180177364
NM_017890.4(VPS13B):c.5471G>A (p.Arg1824His) rs755227174
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter) rs1057516633
NM_017890.4(VPS13B):c.5592G>A (p.Gln1864=) rs61742808
NM_017890.4(VPS13B):c.559C>T (p.Arg187Cys)
NM_017890.4(VPS13B):c.5613_5614insT (p.Lys1872Terfs) rs1554884838
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.5687C>A (p.Thr1896Lys)
NM_017890.4(VPS13B):c.56A>G (p.Lys19Arg) rs200327756
NM_017890.4(VPS13B):c.5727delA (p.Ile1913Terfs) rs1554884932
NM_017890.4(VPS13B):c.5737dupA (p.Ile1913Asnfs) rs386834096
NM_017890.4(VPS13B):c.5738T>C (p.Ile1913Thr) rs779082817
NM_017890.4(VPS13B):c.5750delC (p.Ser1917Phefs) rs386834097
NM_017890.4(VPS13B):c.5753_5754delTT (p.Leu1918Argfs) rs886041586
NM_017890.4(VPS13B):c.5809_5810delAT (p.Ile1937Cysfs) rs386834098
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.5847dupA (p.Gln1950Thrfs) rs754016783
NM_017890.4(VPS13B):c.584C>G (p.Thr195Ser) rs770738729
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.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.5983+14A>C rs886062543
NM_017890.4(VPS13B):c.5983+2dupT rs587777381
NM_017890.4(VPS13B):c.5984-1G>T rs1057516694
NM_017890.4(VPS13B):c.5998_5999delCT (p.Leu2000Alafs) rs886041323
NM_017890.4(VPS13B):c.6002delC (p.Pro2001Leufs) rs755125969
NM_017890.4(VPS13B):c.6084delT (p.Phe2028Leufs) rs1357171752
NM_017890.4(VPS13B):c.6122-1G>A rs750092574
NM_017890.4(VPS13B):c.6122-5_6122del6 rs1057516841
NM_017890.4(VPS13B):c.6157delG (p.Ala2053Glnfs) rs1554911430
NM_017890.4(VPS13B):c.6200dup (p.Leu2067Phefs) rs1554911481
NM_017890.4(VPS13B):c.626_627delCA (p.Thr209Serfs) rs386834100
NM_017890.4(VPS13B):c.6349A>C (p.Lys2117Gln) rs1422079821
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6374G>A (p.Trp2125Ter) rs1057516331
NM_017890.4(VPS13B):c.6374_6383delGGAGAGCTGT (p.Trp2125Phefs) rs1554911731
NM_017890.4(VPS13B):c.6394C>T (p.Gln2132Ter) rs1057516489
NM_017890.4(VPS13B):c.6418C>T (p.Gln2140Ter) rs1057516287
NM_017890.4(VPS13B):c.6420_6421delGA (p.Gln2140Hisfs) rs386834101
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6529+1G>C rs1235993153
NM_017890.4(VPS13B):c.6530-4dupT rs398124337
NM_017890.4(VPS13B):c.6545C>A (p.Ser2182Ter) rs1057516494
NM_017890.4(VPS13B):c.6578T>G (p.Leu2193Arg) rs120074149
NM_017890.4(VPS13B):c.6583delA (p.Thr2195Glnfs) rs1057517318
NM_017890.4(VPS13B):c.6614T>C (p.Ile2205Thr)
NM_017890.4(VPS13B):c.6687delA (p.Gln2229Hisfs) rs386834102
NM_017890.4(VPS13B):c.6730C>T (p.Gln2244Ter) rs1057516663
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6732+1G>T rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.6733_6748del16 (p.Val2245Asnfs) rs1057516495
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.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.6904delC (p.Leu2302Tyrfs) rs1057516302
NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys) rs386834104
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter) rs120074150
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) rs61754113
NM_017890.4(VPS13B):c.7057delA (p.Thr2353Leufs) rs1554924412
NM_017890.4(VPS13B):c.710G>A (p.Arg237His)
NM_017890.4(VPS13B):c.7125+1G>T rs1057516840
NM_017890.4(VPS13B):c.7126-1G>A rs930144563
NM_017890.4(VPS13B):c.7148G>A (p.Trp2383Ter) rs1057516559
NM_017890.4(VPS13B):c.7163A>G (p.Lys2388Arg) rs778935189
NM_017890.4(VPS13B):c.7174del (p.Ala2392Hisfs) rs1554948192
NM_017890.4(VPS13B):c.7221delG (p.Gln2407Hisfs) rs386834105
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7255A>T (p.Lys2419Ter) rs1057516660
NM_017890.4(VPS13B):c.7292delA (p.Asn2431Thrfs) rs886041184
NM_017890.4(VPS13B):c.7322+2T>C
NM_017890.4(VPS13B):c.7323-1G>A rs763079458
NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=) rs150771329
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7471delC (p.His2491Ilefs) rs1554952554
NM_017890.4(VPS13B):c.7504+1G>A rs386834106
NM_017890.4(VPS13B):c.7504+2T>C rs1057517393
NM_017890.4(VPS13B):c.7551A>G (p.Pro2517=)
NM_017890.4(VPS13B):c.7603C>T (p.Arg2535Ter) rs386834107
NM_017890.4(VPS13B):c.7610G>A (p.Trp2537Ter) rs386834108
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.7750G>T (p.Val2584Leu) rs144668374
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
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.7855-19C>T rs199981958
NM_017890.4(VPS13B):c.7855-2A>C rs1378196300
NM_017890.4(VPS13B):c.7867G>A (p.Glu2623Lys)
NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) rs144350008
NM_017890.4(VPS13B):c.7925T>C (p.Leu2642Pro)
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.7936delC (p.Gln2646Argfs) rs386834109
NM_017890.4(VPS13B):c.7955A>C (p.Asn2652Thr) rs886062544
NM_017890.4(VPS13B):c.795_798delTATC (p.Ile266Glnfs) rs1554622608
NM_017890.4(VPS13B):c.7997G>A (p.Arg2666His) rs398124338
NM_017890.4(VPS13B):c.8016+1G>A rs1554955952
NM_017890.4(VPS13B):c.8016+20_8016+42del23 rs769286340
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8039_8064del26 (p.Gly2680Alafs) rs1554560668
NM_017890.4(VPS13B):c.803delA (p.Asp268Valfs) rs1554622622
NM_017890.4(VPS13B):c.8044_8058del15 (p.Gly2682_Trp2686del) rs1554560677
NM_017890.4(VPS13B):c.8085C>T (p.Ala2695=) rs376062743
NM_017890.4(VPS13B):c.8117_8118delGT (p.Gly2706Alafs) rs1554560735
NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter) rs386834110
NM_017890.4(VPS13B):c.8173-1G>C rs1554565484
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8246_8250del5 (p.Tyr2749Trpfs) rs1554565537
NM_017890.4(VPS13B):c.8257delG (p.Asp2753Metfs) rs1554565558
NM_017890.4(VPS13B):c.8330A>G (p.Glu2777Gly)
NM_017890.4(VPS13B):c.8341delC (p.Leu2781Terfs) rs386834111
NM_017890.4(VPS13B):c.8356G>T (p.Val2786Leu) rs886062545
NM_017890.4(VPS13B):c.8436+12C>T rs886062546
NM_017890.4(VPS13B):c.8436+1G>A rs542757501
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.8471G>A (p.Trp2824Ter) rs1057516484
NM_017890.4(VPS13B):c.8472G>A (p.Trp2824Ter) rs386834112
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8520+2T>C rs1554566396
NM_017890.4(VPS13B):c.8520+50delT rs761647040
NM_017890.4(VPS13B):c.8521-1G>T rs1554566596
NM_017890.4(VPS13B):c.8573T>G (p.Ile2858Ser) rs1231452283
NM_017890.4(VPS13B):c.8574_8576delCAT (p.Ile2859del) rs1554566693
NM_017890.4(VPS13B):c.8611delA (p.Thr2871Hisfs) rs386834114
NM_017890.4(VPS13B):c.8634delG (p.Gln2879Argfs) rs765302278
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8696+2T>G rs1057517236
NM_017890.4(VPS13B):c.8697-2A>G rs386834115
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.8708A>T (p.Asp2903Val)
NM_017890.4(VPS13B):c.8802C>T (p.Asp2934=) rs201517365
NM_017890.4(VPS13B):c.8854_8856delAAG (p.Lys2952del) rs549810522
NM_017890.4(VPS13B):c.8868-7G>A rs886062547
NM_017890.4(VPS13B):c.8868-7_8868-6delGGinsT rs756641209
NM_017890.4(VPS13B):c.886G>A (p.Glu296Lys) rs886062535
NM_017890.4(VPS13B):c.889delA (p.Ile297Terfs) rs1554622718
NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter) rs727504219
NM_017890.4(VPS13B):c.8958delG (p.Trp2988Glyfs) rs1057516845
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter) rs797046098
NM_017890.4(VPS13B):c.901_904delACTT (p.Thr301Valfs) rs759536357
NM_017890.4(VPS13B):c.9028C>T (p.Gln3010Ter) rs1057516558
NM_017890.4(VPS13B):c.9066delT (p.Gln3023Argfs) rs1057516276
NM_017890.4(VPS13B):c.9070-2A>G rs1554569259
NM_017890.4(VPS13B):c.9084delT (p.Ile3028Metfs) rs1057516538
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) rs386834117
NM_017890.4(VPS13B):c.9175G>A (p.Gly3059Ser) rs778256097
NM_017890.4(VPS13B):c.9206A>C (p.Glu3069Ala) rs376652526
NM_017890.4(VPS13B):c.9257delA (p.Lys3086Serfs) rs1057516789
NM_017890.4(VPS13B):c.9259-2_9259delAGT rs1057516807
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9342T>C (p.Asn3114=) rs886062548
NM_017890.4(VPS13B):c.9375_9378delATCT (p.Val3127Alafs) rs773945333
NM_017890.4(VPS13B):c.9405+10T>A rs75904081
NM_017890.4(VPS13B):c.9405+1G>C rs756013171
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9406-1G>A rs386834119
NM_017890.4(VPS13B):c.9406-1G>C rs386834119
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017890.4(VPS13B):c.9406-2A>T rs74485751
NM_017890.4(VPS13B):c.9414T>A (p.Arg3138=) rs78277780
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9459G>A (p.Gln3153=) rs267601673
NM_017890.4(VPS13B):c.9488G>A (p.Cys3163Tyr)
NM_017890.4(VPS13B):c.9491G>A (p.Trp3164Ter)
NM_017890.4(VPS13B):c.9500T>C (p.Met3167Thr)
NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter) rs753770252
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
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.9637_9640delCAGA (p.Gln3213Valfs) rs1554574028
NM_017890.4(VPS13B):c.9658G>A (p.Gly3220Arg) rs772658121
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9678A>G (p.Gly3226=) rs564362618
NM_017890.4(VPS13B):c.9689+1G>T rs1057517168
NM_017890.4(VPS13B):c.9690-2A>C rs386834120
NM_017890.4(VPS13B):c.9690-2A>G rs386834120
NM_017890.4(VPS13B):c.9698T>C (p.Val3233Ala)
NM_017890.4(VPS13B):c.9706delT (p.Tyr3236Ilefs) rs386834121
NM_017890.4(VPS13B):c.9731delA (p.Tyr3244Phefs) rs386834122
NM_017890.4(VPS13B):c.975T>G (p.Pro325=) rs1554625544
NM_017890.4(VPS13B):c.9760C>T (p.Arg3254Ter) rs941969577
NM_017890.4(VPS13B):c.9761G>A (p.Arg3254Gln) rs769856598
NM_017890.4(VPS13B):c.9793dupA (p.Met3265Asnfs) rs886041185
NM_017890.4(VPS13B):c.9817+1G>T rs759374475
NM_017890.4(VPS13B):c.9831delT (p.Phe3277Leufs) rs768801125
NM_017890.4(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.9850delA (p.Ile3284Phefs) rs774357106
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4(VPS13B):c.9859G>A (p.Glu3287Lys) rs756531043
NM_017890.4(VPS13B):c.9905delC (p.Pro3302Argfs) rs1057516568
NM_017890.4(VPS13B):c.9906G>A (p.Pro3302=) rs775601813
NM_017890.4(VPS13B):c.9955_9956delCC (p.Pro3319Serfs) rs1057516614
NM_017890.4(VPS13B):c.9978G>A (p.Glu3326=) rs150573530
NM_017890.4(VPS13B):c.9991delA (p.Ile3331Leufs) rs1554575679
NM_017890.4:c.2889delG
NM_152564.4(VPS13B):c.*1932T>G rs10106711
NM_152564.4(VPS13B):c.*336_*353dup rs554420171
NM_152564.4(VPS13B):c.10061+24G>A rs34513504
NM_152564.4(VPS13B):c.10165_10207del (p.Leu3389Valfs) rs875989882
NM_152564.4(VPS13B):c.11338dup (p.Val3780Glyfs) rs1554586953
NM_152564.4(VPS13B):c.11787C>T (p.Asn3929=) rs147710096
NM_152564.4(VPS13B):c.11899dup (p.Thr3967Asnfs) rs1554590501
NM_152564.4(VPS13B):c.11901_11904dup (p.His3969Ilefs) rs1554590506
NM_152564.4(VPS13B):c.11917_11919dup (p.Asp3973_Pro3974insAsp) rs1554590552
NM_152564.4(VPS13B):c.11964_11984dup (p.Gly3995_Phe3996insAsnLysAlaLeuArgLysGly) rs1554590631
NM_152564.4(VPS13B):c.11965_11966dup (p.Asn3989Lysfs) rs1554590620
NM_152564.4(VPS13B):c.11967_11968dup (p.Lys3990Ilefs) rs1554590636
NM_152564.4(VPS13B):c.1206+33T>G rs7460625
NM_152564.4(VPS13B):c.2451T>C (p.His817=) rs114120664
NM_152564.4(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys) rs1554706171
NM_152564.4(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494
NM_152564.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_152564.4(VPS13B):c.3870+1G>T rs764225649
NM_152564.4(VPS13B):c.4218_4222dup (p.Val1408Aspfs) rs1554824678
NM_152564.4(VPS13B):c.4608_4609del (p.Glu1537Argfs) rs1554826615
NM_152564.4(VPS13B):c.4894dup (p.Thr1632Asnfs) rs1554843942
NM_152564.4(VPS13B):c.5226dup (p.Lys1743Terfs) rs1554884575
NM_152564.4(VPS13B):c.6578_6579insTA (p.Trp2193Cysfs) rs1554922054
NM_152564.4(VPS13B):c.7314dup (p.Cys2439Leufs) rs1554952467
NM_152564.4(VPS13B):c.9293_9295dup (p.Pro3098_Gln3099insPro)
VPS13B, 1-BP DEL, 11564A
VPS13B, EX46-50DEL
VPS13B, EX6-16DEL

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