GRCh37/hg19 8q22.2(chr8:100050651100123507)x1


GRCh37/hg19 8q22.2(chr8:100587886100589861)x1


NC_000008.10:g.(?_100286416)_(100287492_?)del


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

rs1057516324 
NM_015243.2(VPS13B):c.1002T>G (p.Tyr334Ter)

rs1057519182 
NM_015243.2(VPS13B):c.1006C>T (p.Gln336Ter)

rs1554625617 
NM_015243.2(VPS13B):c.1027C>T (p.Gln343Ter)

rs1554625632 
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.1150A>T (p.Lys384Ter)

rs1554625838 
NM_015243.2(VPS13B):c.1187del (p.Lys396fs)

rs1554625872 
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter)

rs386834070 
NM_015243.2(VPS13B):c.1225G>T (p.Glu409Ter)

rs386834071 
NM_015243.2(VPS13B):c.1269_1273del (p.Cys425fs)

rs386834072 
NM_015243.2(VPS13B):c.13031G>C

rs1554634091 
NM_015243.2(VPS13B):c.1306del (p.Leu436_Met437insTer)

rs1408744761 
NM_015243.2(VPS13B):c.147+1G>A

rs1057517029 
NM_015243.2(VPS13B):c.1495_1498del (p.Phe499fs)

rs1057517319 
NM_015243.2(VPS13B):c.1563+1G>A

rs1057516923 
NM_015243.2(VPS13B):c.1664_1671del (p.Gln555fs)

rs1057517177 
NM_015243.2(VPS13B):c.1669del (p.Asp557fs)

rs1057517283 
NM_015243.2(VPS13B):c.18442A>G

rs386834073 
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter)

rs764776104 
NM_015243.2(VPS13B):c.2011_2015del (p.Lys671fs)

rs1057517338 
NM_015243.2(VPS13B):c.2047del (p.Gln683fs)

rs386834074 
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter)

rs180177356 
NM_015243.2(VPS13B):c.2158C>T (p.Gln720Ter)

rs777593389 
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.2333+2T>C

rs1554652265 
NM_015243.2(VPS13B):c.23342A>G

rs1554665974 
NM_015243.2(VPS13B):c.2341A>T (p.Arg781Ter)

rs1057516681 
NM_015243.2(VPS13B):c.2362G>T (p.Glu788Ter)

rs1554666009 
NM_015243.2(VPS13B):c.291+1G>A

rs1057516857 
NM_015243.2(VPS13B):c.2922A>G

rs386834079 
NM_015243.2(VPS13B):c.2927A>G

rs1554612610 
NM_015243.2(VPS13B):c.376C>T (p.Gln126Ter)

rs1057516422 
NM_015243.2(VPS13B):c.3G>A (p.Met1Ile)

rs1060499779 
NM_015243.2(VPS13B):c.404dup (p.Leu135fs)

rs386834083 
NM_015243.2(VPS13B):c.412+1G>A

rs1057517295 
NM_015243.2(VPS13B):c.412+1G>T

rs1057517295 
NM_015243.2(VPS13B):c.422_423AG[1] (p.Leu143fs)

rs1057517076 
NM_015243.2(VPS13B):c.436C>T (p.Arg146Ter)

rs144539572 
NM_015243.2(VPS13B):c.463_466ATAA[1] (p.Asn156fs)

rs386834090 
NM_015243.2(VPS13B):c.626_627del (p.Thr209fs)

rs386834100 
NM_015243.2(VPS13B):c.762+2T>C


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

rs1554622608 
NM_015243.2(VPS13B):c.803del (p.Asp268fs)

rs1554622622 
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.(5983+1_59841)_(7125+1_71261)dup


NM_017890.4(VPS13B):c.(?_1)_(937+1_9381)del


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.10074_10075CA[1] (p.Thr3359fs)

rs386834054 
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.10360dup (p.Leu3454fs)

rs1563509743 
NM_017890.4(VPS13B):c.10436_10439del (p.Ile3479fs)

rs1554581430 
NM_017890.4(VPS13B):c.10454_10455AG[1] (p.Leu3487fs)

rs180177371 
NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506fs)

rs1554581504 
NM_017890.4(VPS13B):c.10629_10632TTTG[1] (p.Phe3545fs)


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

rs1554581632 
NM_017890.4(VPS13B):c.10675_10676AC[2] (p.His3560fs)

rs1554581676 
NM_017890.4(VPS13B):c.10748dup (p.Lys3584fs)

rs1057517137 
NM_017890.4(VPS13B):c.10839_10840TC[1] (p.Leu3614fs)

rs386834056 
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.11334del (p.Thr3780fs)

rs1064795251 
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.11453_11454CA[1] (p.Gln3819fs)

rs1554586994 
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.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.11595del (p.Arg3865fs)

rs747217399 
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.11780_11784delinsAGAA (p.Thr3927fs)

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.11906_11916delinsG (p.Pro3969fs)

rs786204456 
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.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.2934+1_2934+2del

rs180177358 
NM_017890.4(VPS13B):c.3020del (p.Lys1007fs)

rs1554767735 
NM_017890.4(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)

rs1057516670 
NM_017890.4(VPS13B):c.3072_3073delinsT (p.Lys1024fs)

rs1057516834 
NM_017890.4(VPS13B):c.3082+2T>C

rs1188811827 
NM_017890.4(VPS13B):c.30831G>A

rs1563726973 
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.3397C>T (p.Pro1133Ser)

rs781781537 
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


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.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.4238T>A (p.Leu1413Ter)

rs765998879 
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter)

rs145741622 
NM_017890.4(VPS13B):c.4334del (p.Gln1445fs)

rs386834084 
NM_017890.4(VPS13B):c.4396dup (p.Thr1466fs)

rs386834085 
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter)

rs386834086 
NM_017890.4(VPS13B):c.4474del (p.Ile1492fs)

rs386834087 
NM_017890.4(VPS13B):c.4477_4479CTT[1] (p.Leu1494del)

rs386834088 
NM_017890.4(VPS13B):c.4572dup (p.Glu1525fs)

rs386834089 
NM_017890.4(VPS13B):c.4612_4613AC[1] (p.Leu1539fs)

rs1554826566 
NM_017890.4(VPS13B):c.4748T>A (p.Ile1583Asn)

rs138417551 
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.4923G>A (p.Trp1641Ter)

rs180177360 
NM_017890.4(VPS13B):c.4969dup (p.Thr1657fs)

rs1554843942 
NM_017890.4(VPS13B):c.5024+2T>C


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.5424_5425AG[3] (p.Gln1810fs)

rs180177363 
NM_017890.4(VPS13B):c.5435G>T (p.Ser1812Ile)

rs1085307957 
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.59841G>T

rs1057516694 
NM_017890.4(VPS13B):c.5996_5997CT[1] (p.Leu2000fs)

rs886041323 
NM_017890.4(VPS13B):c.6002del (p.Pro2001fs)

rs755125969 
NM_017890.4(VPS13B):c.6084del (p.Phe2028fs)

rs1357171752 
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

rs1057516495 
NM_017890.4(VPS13B):c.6904del (p.Leu2302fs)

rs1057516302 
NM_017890.4(VPS13B):c.6940+1G>T


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.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.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.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.9405+2T>C

rs1554570388 
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.9633_9636CAGA[1] (p.Gln3213fs)

rs1554574028 
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.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_017890.4:c.7386_7387ins5

rs1554952465 
Single allele

