NC_000008.10:g.(?_100162579_100168929del


NC_000008.10:g.(?_100396426)_(100479872_?)dup


NC_000008.10:g.(?_100443755)_(100443902_?)dup


NC_000008.10:g.(?_100479254_100479653del


NC_000008.10:g.(?_100515082_100589871del


NC_000008.10:g.(?_100781239_100789156del


NC_000008.10:g.(?_100821603)_(100821758_?)del


NC_000008.11:g.(?_99134631)_(99511512_?)dup


NC_000008.11:g.(?_99192876)_(99209768_?)dup


NC_000008.11:g.(?_99209582)_(99275264_?)del


NC_000008.11:g.(?_99274188)_(99275264_?)del


NM_015243.2(VPS13B):c.1001del (p.Tyr334fs)

rs1057516324

NM_015243.2(VPS13B):c.1040del (p.Ser347fs)

rs1057516971

NM_015243.2(VPS13B):c.1071_1074del (p.Ser358fs)

rs1554625693

NM_015243.2(VPS13B):c.1079_1080delinsG (p.Asp360fs)

rs1057516274

NM_015243.2(VPS13B):c.107delinsAA (p.Val36fs)

rs1554561356

NM_015243.2(VPS13B):c.1187del (p.Lys396fs)

rs1554625872

NM_015243.2(VPS13B):c.1269_1273del (p.Cys425fs)

rs386834072

NM_015243.2(VPS13B):c.1306del (p.Leu436_Met437insTer)

rs1408744761

NM_015243.2(VPS13B):c.1495_1498del (p.Phe499fs)

rs1057517319

NM_015243.2(VPS13B):c.1664_1671del (p.Gln555fs)

rs1057517177

NM_015243.2(VPS13B):c.1669del (p.Asp557fs)

rs1057517283

NM_015243.2(VPS13B):c.2011_2015del (p.Lys671fs)

rs1057517338

NM_015243.2(VPS13B):c.2047del (p.Gln683fs)

rs386834074

NM_015243.2(VPS13B):c.219_220delinsT (p.Lys73fs)

rs386834075

NM_015243.2(VPS13B):c.2268del (p.Val757fs)

rs1057516532

NM_015243.2(VPS13B):c.22_23delinsA (p.Pro8fs)

rs386834076

NM_015243.2(VPS13B):c.404dup (p.Leu135fs)

rs386834083

NM_015243.2(VPS13B):c.412+1G>C


NM_015243.2(VPS13B):c.626_627del (p.Thr209fs)

rs386834100

NM_015243.2(VPS13B):c.795_798del (p.Ile266fs)

rs1554622608

NM_015243.2(VPS13B):c.803del (p.Asp268fs)

rs1554622622

NM_015243.2(VPS13B):c.80A>G (p.Gln27Arg)

rs1587912461

NM_015243.2(VPS13B):c.889del (p.Glu296_Ile297insTer)

rs1554622718

NM_015243.2(VPS13B):c.901_904del (p.Thr301fs)

rs759536357

NM_015243.2(VPS13B):c.916_917del (p.Asp306fs)

rs386834117

NM_017890.4(VPS13B):c.10009_10017+5del

rs1554575693

NM_017890.4(VPS13B):c.10015_10016insTTT (p.Gln3339delinsLeuTer)

rs1301330402

NM_017890.4(VPS13B):c.10017+1G>A

rs1057517063

NM_017890.4(VPS13B):c.10017+1G>T

rs1057517063

NM_017890.4(VPS13B):c.10018_10021delGTTG

rs1554579522

NM_017890.4(VPS13B):c.1006C>T (p.Gln336Ter)

rs1554625617

NM_017890.4(VPS13B):c.10136+1G>A

rs1200459145

NM_017890.4(VPS13B):c.101372A>G

rs1554581156

NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs)

rs386834055

NM_017890.4(VPS13B):c.10181T>G (p.Leu3394Ter)

rs1057516437

NM_017890.4(VPS13B):c.10241_10242del (p.Leu3414fs)

rs1554581267

NM_017890.4(VPS13B):c.1027C>T (p.Gln343Ter)

rs1554625632

NM_017890.4(VPS13B):c.10360dup (p.Leu3454fs)

rs1563509743

NM_017890.4(VPS13B):c.10436_10439del (p.Ile3479fs)

rs1554581430

NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506fs)

rs1554581504

NM_017890.4(VPS13B):c.10630_10631del (p.Leu3544fs)

rs1554581632

NM_017890.4(VPS13B):c.10748dup (p.Lys3584fs)

rs1057517137

NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter)

rs1057520769

NM_017890.4(VPS13B):c.10847_10849del (p.Phe3616del)

rs1554581821

NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter)

rs120074154

NM_017890.4(VPS13B):c.109432A>C

rs745404712

NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter)

rs386834057

NM_017890.4(VPS13B):c.11125del (p.Leu3709fs)

rs386834058

NM_017890.4(VPS13B):c.11169_11172dup (p.Arg3725fs)

rs386834059

NM_017890.4(VPS13B):c.11180_11189del (p.Ser3727fs)

rs1057517202

NM_017890.4(VPS13B):c.11216G>A (p.Trp3739Ter)

rs386834060

NM_017890.4(VPS13B):c.11237_11238del (p.Ser3746fs)

rs1057517376

NM_017890.4(VPS13B):c.112911G>A

rs1057517441

NM_017890.4(VPS13B):c.112912A>G

rs867112705

NM_017890.4(VPS13B):c.11311del (p.Asp3771fs)

rs1347701279

NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter)

rs386834061

NM_017890.4(VPS13B):c.11338del (p.Thr3780fs)

rs1057516245

NM_017890.4(VPS13B):c.11413dup (p.Val3805fs)

rs1554586953

NM_017890.4(VPS13B):c.11435del (p.Gly3812fs)

rs1554586972

NM_017890.4(VPS13B):c.11467+1G>T

rs1554587021

NM_017890.4(VPS13B):c.114681G>A

rs747363890

NM_017890.4(VPS13B):c.11505del (p.Lys3835fs)

rs386834062

NM_017890.4(VPS13B):c.1150A>T (p.Lys384Ter)

rs1554625838

NM_017890.4(VPS13B):c.11546_11549delinsTGT (p.Pro3849fs)

rs1057516284

NM_017890.4(VPS13B):c.11556dup (p.Val3853fs)

rs386834063

NM_017890.4(VPS13B):c.11564del (p.Tyr3855fs)

rs386834064

NM_017890.4(VPS13B):c.115712A>G

rs1554588353

NM_017890.4(VPS13B):c.11576del (p.Met3859fs)

rs1394681818

NM_017890.4(VPS13B):c.11598del (p.Glu3867fs)

rs386834065

NM_017890.4(VPS13B):c.11650del (p.His3884fs)

rs1057516651

NM_017890.4(VPS13B):c.11658dup (p.Cys3887fs)

rs1057517438

NM_017890.4(VPS13B):c.11675C>A (p.Ser3892Ter)

rs1057517385

NM_017890.4(VPS13B):c.11695_11696del (p.Ser3899fs)

rs1554588477

NM_017890.4(VPS13B):c.11695_11698del (p.Ser3901fs)

rs386834066

NM_017890.4(VPS13B):c.11705_11706delinsC (p.Glu3902fs)

rs1554588489

NM_017890.4(VPS13B):c.11777_11780del (p.Leu3926fs)

rs1161589003

NM_017890.4(VPS13B):c.11780_11784delinsAA (p.Thr3927_Val3928delinsLys)

rs386834067

NM_017890.4(VPS13B):c.118211G>A

rs372327659

NM_017890.4(VPS13B):c.11823_11826dup (p.Gly3943fs)

rs1554590314

NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup)

rs386834068

NM_017890.4(VPS13B):c.11833C>T (p.Arg3945Ter)

rs933746831

NM_017890.4(VPS13B):c.11906_11915del (p.Pro3969fs)

rs386834069

NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs)

rs180177374

NM_017890.4(VPS13B):c.11913T>A (p.Cys3971Ter)

rs773094891

NM_017890.4(VPS13B):c.11955dup (p.Pro3986fs)

rs1057517328

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.13031G>C

rs1554634091

NM_017890.4(VPS13B):c.147+1G>A

rs1057517029

NM_017890.4(VPS13B):c.1504C>T (p.Arg502Ter)

rs180177354

NM_017890.4(VPS13B):c.1563+1G>A

rs1057516923

NM_017890.4(VPS13B):c.1563G>A (p.Lys521=)

rs180177355

NM_017890.4(VPS13B):c.18442A>G

rs386834073

NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter)

rs764776104

NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter)

rs180177356

NM_017890.4(VPS13B):c.2158C>T (p.Gln720Ter)

rs777593389

NM_017890.4(VPS13B):c.2333+2T>C

rs1554652265

NM_017890.4(VPS13B):c.23342A>G

rs1554665974

NM_017890.4(VPS13B):c.2341A>T (p.Arg781Ter)

rs1057516681

NM_017890.4(VPS13B):c.2362G>T (p.Glu788Ter)

rs1554666009

NM_017890.4(VPS13B):c.25162A>G

rs1554706114

NM_017890.4(VPS13B):c.2552_2559del (p.Gly851fs)

rs1554706149

NM_017890.4(VPS13B):c.2650+1G>A

rs1554706285

NM_017890.4(VPS13B):c.26511G>A

rs386834077

NM_017890.4(VPS13B):c.2691_2692delinsAAT (p.Pro898fs)

rs1554706662

NM_017890.4(VPS13B):c.2727_2730dup (p.Asn911fs)

rs180177357

NM_017890.4(VPS13B):c.2816delinsCC (p.His939fs)

rs1057517255

NM_017890.4(VPS13B):c.2824+2T>C

rs141703746

NM_017890.4(VPS13B):c.2828del (p.Ala943fs)

rs1554765140

NM_017890.4(VPS13B):c.2855del (p.Leu952fs)

rs1554765173

NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter)

rs386834078

NM_017890.4(VPS13B):c.2889del (p.Trp963fs)

rs1563700124

NM_017890.4(VPS13B):c.291+1G>A

rs1057516857

NM_017890.4(VPS13B):c.2922A>G

rs386834079

NM_017890.4(VPS13B):c.2927A>G

rs1554612610

NM_017890.4(VPS13B):c.2934+1_2934+2del

rs180177358

NM_017890.4(VPS13B):c.3020del (p.Lys1007fs)

rs1554767735

NM_017890.4(VPS13B):c.3072_3073delinsT (p.Lys1024fs)

rs1057516834

NM_017890.4(VPS13B):c.3082+2T>C

rs1188811827

NM_017890.4(VPS13B):c.30832A>C

rs1456528242

NM_017890.4(VPS13B):c.3096del (p.Leu1032fs)

rs1554788238

NM_017890.4(VPS13B):c.3104del (p.Pro1035fs)

rs1057516926

NM_017890.4(VPS13B):c.3133del (p.Ser1045fs)

rs1057517447

NM_017890.4(VPS13B):c.3240del (p.Pro1081fs)

rs764544747

NM_017890.4(VPS13B):c.3349dup (p.Cys1117fs)

rs1554793521

NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter)

rs386834080

NM_017890.4(VPS13B):c.3445+1G>T

rs1034855385

NM_017890.4(VPS13B):c.3446388_3457del

rs1588410519

NM_017890.4(VPS13B):c.3618T>A (p.Cys1206Ter)

rs386834081

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.36671G>A

rs750609612

NM_017890.4(VPS13B):c.3681T>A (p.Tyr1227Ter)

rs1554814266

NM_017890.4(VPS13B):c.3686dup (p.Thr1230fs)

rs1554814271

NM_017890.4(VPS13B):c.376C>T (p.Gln126Ter)

rs1057516422

NM_017890.4(VPS13B):c.3782del (p.Pro1261fs)

rs753645306

NM_017890.4(VPS13B):c.3870+1G>T

rs764225649

NM_017890.4(VPS13B):c.3902dup (p.Phe1302fs)

rs1057516653

NM_017890.4(VPS13B):c.4042+2T>C

rs1554822819

NM_017890.4(VPS13B):c.412+1G>A

rs1057517295

NM_017890.4(VPS13B):c.4238T>A (p.Leu1413Ter)

rs765998879

NM_017890.4(VPS13B):c.4334del (p.Gln1445fs)

rs386834084

NM_017890.4(VPS13B):c.436C>T (p.Arg146Ter)

rs144539572

NM_017890.4(VPS13B):c.4396dup (p.Thr1466fs)

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.4474del (p.Ile1492fs)

rs386834087

NM_017890.4(VPS13B):c.4572dup (p.Glu1525fs)

rs386834089

NM_017890.4(VPS13B):c.4820+2T>C

rs386834091

NM_017890.4(VPS13B):c.48211G>T

rs768342041

NM_017890.4(VPS13B):c.48212A>T

rs1554843814

NM_017890.4(VPS13B):c.4846C>T (p.Arg1616Ter)

rs752429062

NM_017890.4(VPS13B):c.4878_4880dup (p.Tyr1627Ter)

rs180177359

NM_017890.4(VPS13B):c.4894C>T (p.Gln1632Ter)

rs1588491546

NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter)

rs180177360

NM_017890.4(VPS13B):c.4969dup (p.Thr1657fs)

rs1554843942

NM_017890.4(VPS13B):c.5024+2T>C

rs761273297

NM_017890.4(VPS13B):c.50251G>C

rs1554852945

NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter)

rs386834093

NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del)

rs180177362

NM_017890.4(VPS13B):c.5229delinsCC (p.Gln1744fs)

rs1554853667

NM_017890.4(VPS13B):c.5244del (p.Gln1748fs)

rs1554853676

NM_017890.4(VPS13B):c.5301dup (p.Lys1768Ter)

rs1554884575

NM_017890.4(VPS13B):c.5331dup (p.Asp1778Ter)

rs386834094

NM_017890.4(VPS13B):c.5334dup (p.Gly1779fs)

rs786204533

NM_017890.4(VPS13B):c.5409del (p.Arg1804fs)

rs763909903

NM_017890.4(VPS13B):c.5461dup (p.Arg1821fs)

rs180177364

NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter)

rs1057516633

NM_017890.4(VPS13B):c.5613_5614insT (p.Lys1872Ter)

rs1554884838

NM_017890.4(VPS13B):c.5727del (p.Lys1912_Ile1913insTer)

rs1554884932

NM_017890.4(VPS13B):c.5737dup (p.Ile1913fs)

rs386834096

NM_017890.4(VPS13B):c.5750del (p.Ser1917fs)

rs386834097

NM_017890.4(VPS13B):c.5753_5754del (p.Leu1918fs)

rs886041586

NM_017890.4(VPS13B):c.5809_5810del (p.Ile1937fs)

rs386834098

NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter)

rs386834099

NM_017890.4(VPS13B):c.5847dup (p.Gln1950fs)

rs754016783

NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala)

rs138930771

NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter)

rs180177365

NM_017890.4(VPS13B):c.5983+2dup

rs587777381

NM_017890.4(VPS13B):c.59841G>T

rs1057516694

NM_017890.4(VPS13B):c.6002del (p.Pro2001fs)

rs755125969

NM_017890.4(VPS13B):c.6121+1G>T


NM_017890.4(VPS13B):c.61221G>A

rs750092574

NM_017890.4(VPS13B):c.61225_6122del

rs1057516841

NM_017890.4(VPS13B):c.6157del (p.Ala2053fs)

rs1554911430

NM_017890.4(VPS13B):c.6200dup (p.Leu2067fs)

rs1554911481

NM_017890.4(VPS13B):c.6370_6371delAT

rs748404277

NM_017890.4(VPS13B):c.6374G>A (p.Trp2125Ter)

rs1057516331

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_6421del (p.Gln2140fs)

rs386834101

NM_017890.4(VPS13B):c.6529+1G>C

rs1235993153

NM_017890.4(VPS13B):c.6545C>A (p.Ser2182Ter)

rs1057516494

NM_017890.4(VPS13B):c.6583del (p.Thr2195fs)

rs1057517318

NM_017890.4(VPS13B):c.6687del (p.Gln2229fs)

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.67332A>G

rs386834103

NM_017890.4(VPS13B):c.6733_6748del16


NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter)

rs146960401

NM_017890.4(VPS13B):c.6904del (p.Leu2302fs)

rs1057516302

NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys)

rs386834104

NM_017890.4(VPS13B):c.7057del (p.Thr2353fs)

rs1554924412

NM_017890.4(VPS13B):c.7123C>T (p.Gln2375Ter)

rs767858119

NM_017890.4(VPS13B):c.7125+1G>T

rs1057516840

NM_017890.4(VPS13B):c.71261G>A

rs930144563

NM_017890.4(VPS13B):c.7148G>A (p.Trp2383Ter)

rs1057516559

NM_017890.4(VPS13B):c.7221del (p.Gln2407fs)

rs386834105

NM_017890.4(VPS13B):c.7255A>T (p.Lys2419Ter)

rs1057516660

NM_017890.4(VPS13B):c.7292del (p.Asn2431fs)

rs886041184

NM_017890.4(VPS13B):c.7322+2T>C

rs1563908020

NM_017890.4(VPS13B):c.73231G>A

rs763079458

NM_017890.4(VPS13B):c.7386_7387insAGGCA (p.Ala2463fs)

rs1554952465

NM_017890.4(VPS13B):c.7389dup (p.Cys2464fs)

rs1554952467

NM_017890.4(VPS13B):c.7471del (p.His2491fs)

rs1554952554

NM_017890.4(VPS13B):c.7504+1G>A

rs386834106

NM_017890.4(VPS13B):c.7504+2T>C

rs1057517393

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.762+2T>C

rs1588048848

NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn)

rs140179844

NM_017890.4(VPS13B):c.78552A>C

rs1378196300

NM_017890.4(VPS13B):c.7936del (p.Gln2646fs)

rs386834109

NM_017890.4(VPS13B):c.8016+1G>A

rs1554955952

NM_017890.4(VPS13B):c.8039_8064del (p.Gly2680fs)

rs1554560668

NM_017890.4(VPS13B):c.8117_8118del (p.Gly2706fs)

rs1554560735

NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter)

rs386834110

NM_017890.4(VPS13B):c.81731G>C

rs1554565484

NM_017890.4(VPS13B):c.8246_8250del (p.Tyr2749fs)

rs1554565537

NM_017890.4(VPS13B):c.8257del (p.Asp2753fs)

rs1554565558

NM_017890.4(VPS13B):c.8341del (p.Glu2780_Leu2781insTer)

rs386834111

NM_017890.4(VPS13B):c.8436+1G>A

rs542757501

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.85211G>T

rs1554566596

NM_017890.4(VPS13B):c.8611del (p.Thr2871fs)

rs386834114

NM_017890.4(VPS13B):c.8634del (p.Gln2879fs)

rs765302278

NM_017890.4(VPS13B):c.8696+2T>G

rs1057517236

NM_017890.4(VPS13B):c.86972A>G

rs386834115

NM_017890.4(VPS13B):c.86979A>G

rs386834116

NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter)

rs727504219

NM_017890.4(VPS13B):c.8958del (p.Trp2988fs)

rs1057516845

NM_017890.4(VPS13B):c.9028C>T (p.Gln3010Ter)

rs1057516558

NM_017890.4(VPS13B):c.9066del (p.Gln3023fs)

rs1057516276

NM_017890.4(VPS13B):c.90702A>G

rs1554569259

NM_017890.4(VPS13B):c.9084del (p.Ile3028fs)

rs1057516538

NM_017890.4(VPS13B):c.9257del (p.Lys3086fs)

rs1057516789

NM_017890.4(VPS13B):c.92592_9259del

rs1057516807

NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs)

rs180177329

NM_017890.4(VPS13B):c.9375_9378del (p.Val3127fs)

rs773945333

NM_017890.4(VPS13B):c.9405+1G>C

rs756013171

NM_017890.4(VPS13B):c.94061G>A

rs386834119

NM_017890.4(VPS13B):c.94061G>T

rs386834119

NM_017890.4(VPS13B):c.94062A>T

rs74485751

NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter)

rs753770252

NM_017890.4(VPS13B):c.9689+1G>T

rs1057517168

NM_017890.4(VPS13B):c.96902A>C

rs386834120

NM_017890.4(VPS13B):c.96902A>G

rs386834120

NM_017890.4(VPS13B):c.9706del (p.Tyr3236fs)

rs386834121

NM_017890.4(VPS13B):c.9731del (p.Tyr3244fs)

rs386834122

NM_017890.4(VPS13B):c.9760C>T (p.Arg3254Ter)

rs941969577

NM_017890.4(VPS13B):c.9793dup (p.Met3265fs)

rs886041185

NM_017890.4(VPS13B):c.9817+1G>T

rs759374475

NM_017890.4(VPS13B):c.9817+2T>C


NM_017890.4(VPS13B):c.9831del (p.Phe3277fs)

rs768801125

NM_017890.4(VPS13B):c.9850del (p.Ile3284fs)

rs774357106

NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)

rs774357106

NM_017890.4(VPS13B):c.9905del (p.Pro3302fs)

rs1057516568

NM_017890.4(VPS13B):c.9955_9956del (p.Pro3319fs)

rs1057516614

NM_017890.4(VPS13B):c.9991del (p.Ile3331fs)

rs1554575679

NM_017890.4:c.3542_3543ins5


NM_017890.4:c.7128_7129ins5


NM_017890.5(VPS13B):c.11906_11916delinsG

rs786204456

NM_152564.4(VPS13B):c.11520del (p.Arg3840fs)

rs747217399

NM_152564.4(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)

rs386834067

NM_152564.4(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)

rs1057516670

NM_152564.4(VPS13B):c.6009del (p.Phe2003fs)

rs1357171752

NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)

rs386834054

NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)

rs180177371

NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)

rs1354326532

NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs)

rs1554581676

NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs)

rs386834056

NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)


NM_152564.5(VPS13B):c.10867+1G>T


NM_152564.5(VPS13B):c.112161G>C


NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs)

rs1554586994

NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)

rs1588811810

NM_152564.5(VPS13B):c.2013+2341_2166del


NM_152564.5(VPS13B):c.2178_2200del (p.His727fs)


NM_152564.5(VPS13B):c.2333+1G>T


NM_152564.5(VPS13B):c.2824+2T>G


NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)

rs1057517076

NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)

rs386834088

NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)

rs1554826566

NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)

rs386834090

NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs)


NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)

rs180177363

NM_152564.5(VPS13B):c.580+1G>T


NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)

rs886041323

NM_152564.5(VPS13B):c.7247+2043_7403del


NM_152564.5(VPS13B):c.7365del (p.Cys2455fs)


NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val)


NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)


NM_152564.5(VPS13B):c.8097+1G>A


NM_152564.5(VPS13B):c.9381G>C


NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)

rs1554574028

NM_152564.5(VPS13B):c.99432A>G

