ClinVar Miner

List of variants in gene VPS13B studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 744
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.2516-146T>C rs6987376 0.99726
NM_152564.5(VPS13B):c.2515+16235C>A rs9792362 0.76625
NM_152564.5(VPS13B):c.292-270A>C rs7461615 0.73862
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_152564.5(VPS13B):c.9614+204T>C rs11781938 0.39338
NM_152564.5(VPS13B):c.3666+289A>C rs3134157 0.28865
NM_152564.5(VPS13B):c.3210+311T>A rs3134187 0.26949
NM_152564.5(VPS13B):c.11392+211G>A rs12548344 0.24222
NM_152564.5(VPS13B):c.10062-266G>A rs7832488 0.23984
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_152564.5(VPS13B):c.1843+283T>C rs6468671 0.20865
NM_152564.5(VPS13B):c.3666+199A>G rs3105204 0.17942
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17268
NM_152564.5(VPS13B):c.2935-192_2935-191insTA rs139179566 0.17197
NM_152564.5(VPS13B):c.3210+184A>C rs3103704 0.16770
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_152564.5(VPS13B):c.8621+144G>A rs13260744 0.15013
NM_152564.5(VPS13B):c.147+112T>C rs12547849 0.14998
NM_152564.5(VPS13B):c.9615-331C>T rs35615286 0.13355
NM_152564.5(VPS13B):c.5909-161G>A rs1788156 0.13337
NM_152564.5(VPS13B):c.5908+279G>A rs16897528 0.13300
NM_152564.5(VPS13B):c.11746-296T>C rs10955222 0.12896
NM_152564.5(VPS13B):c.8621+178T>A rs2305290 0.12690
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_152564.5(VPS13B):c.2013+100G>T rs79506327 0.07746
NM_152564.5(VPS13B):c.4633+302G>A rs16897410 0.07246
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_152564.5(VPS13B):c.2825-252C>T rs11989337 0.06561
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_152564.5(VPS13B):c.2515+16235del rs201786882 0.05358
NM_152564.5(VPS13B):c.1206+254A>G rs77809423 0.05067
NM_152564.5(VPS13B):c.2934+290A>G rs79733089 0.05008
NM_152564.5(VPS13B):c.6047-257G>A rs4735634 0.04243
NM_152564.5(VPS13B):c.3666+152T>C rs78645786 0.03898
NM_152564.5(VPS13B):c.4633+53C>T rs117661187 0.03620
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_152564.5(VPS13B):c.5909-327T>A rs117526235 0.03342
NM_152564.5(VPS13B):c.2824+82_2824+83insA rs199722082 0.03116
NM_152564.5(VPS13B):c.8098-312G>A rs116971935 0.02990
NM_152564.5(VPS13B):c.6046+210G>A rs1449790 0.02934
NM_152564.5(VPS13B):c.10867+56G>A rs148960616 0.02595
NM_152564.5(VPS13B):c.4225-54T>A rs575517960 0.02411
NM_152564.5(VPS13B):c.3871-156G>A rs75213793 0.02246
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_152564.5(VPS13B):c.2824+83T>A rs186729358 0.02041
NM_152564.5(VPS13B):c.2824+84T>A rs541769726 0.01984
NM_152564.5(VPS13B):c.2824+86T>A rs561450730 0.01970
NM_152564.5(VPS13B):c.3211-152A>G rs77706283 0.01964
NM_152564.5(VPS13B):c.7247+247A>G rs73271381 0.01815
NM_152564.5(VPS13B):c.11496-146A>G rs76969502 0.01806
NM_152564.5(VPS13B):c.8445+47T>C rs16897743 0.01637
NM_152564.5(VPS13B):c.763-89C>A rs138515744 0.01527
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_152564.5(VPS13B):c.10867+157C>G rs115753096 0.01179
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_152564.5(VPS13B):c.9183+197G>C rs11997610 0.01153
NM_152564.5(VPS13B):c.9743-47T>G rs78260251 0.01080
NM_152564.5(VPS13B):c.5077-241A>G rs116011290 0.01079
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_152564.5(VPS13B):c.3445+227A>G rs80150037 0.00948
NM_152564.5(VPS13B):c.2209-334G>A rs113889799 0.00915
NM_152564.5(VPS13B):c.938-164T>G rs112458271 0.00893
NM_152564.5(VPS13B):c.412+181G>A rs141308505 0.00827
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_152564.5(VPS13B):c.11044+33C>A rs72676269 0.00818
NM_152564.5(VPS13B):c.5076+240G>A rs149130480 0.00813
NM_152564.5(VPS13B):c.2515+16258T>C rs147966059 0.00810
NM_152564.5(VPS13B):c.10868-56T>C rs117709551 0.00808
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_152564.5(VPS13B):c.9614+302G>A rs78692729 0.00701
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_152564.5(VPS13B):c.291+277C>T rs190751801 0.00690
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_152564.5(VPS13B):c.2650+259G>A rs191182682 0.00688
NM_152564.5(VPS13B):c.7779+102G>A rs151077038 0.00685
NM_152564.5(VPS13B):c.292-282C>A rs139188233 0.00662
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_152564.5(VPS13B):c.4950-90A>T rs116711715 0.00593
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.5077-311A>G rs138469023 0.00533
NM_152564.5(VPS13B):c.7430-240A>T rs572379512 0.00532
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152564.5(VPS13B):c.9615-321G>A rs77687953 0.00479
NM_152564.5(VPS13B):c.8362-188C>T rs116460739 0.00475
NM_152564.5(VPS13B):c.3083-81C>A rs140677395 0.00462
NM_152564.5(VPS13B):c.11393-249T>C rs74485065 0.00453
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_152564.5(VPS13B):c.10867+96T>A rs527945139 0.00425
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_152564.5(VPS13B):c.2825-263G>A rs149793635 0.00401
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_152564.5(VPS13B):c.4225-199C>T rs79931505 0.00376
NM_152564.5(VPS13B):c.6658-94A>G rs114619467 0.00374
NM_152564.5(VPS13B):c.7050+11A>G rs114546856 0.00372
NM_152564.5(VPS13B):c.11745+164G>A rs114863937 0.00341
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_152564.5(VPS13B):c.4949+105T>G rs189692164 0.00301
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.*1355T>G rs562826355 0.00204
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00113
NM_152564.5(VPS13B):c.1844-51G>A rs113413237 0.00112
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_152564.5(VPS13B):c.*202T>A rs201566966 0.00108
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.412+36A>G rs146475623 0.00101
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.*831C>T rs547185676 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00066
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00047
NM_152564.5(VPS13B):c.711T>C (p.Arg237=) rs140808736 0.00047
NM_152564.5(VPS13B):c.8793-12T>A rs189516672 0.00042
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00036
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) rs142380266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.6047-22T>G rs191778593 0.00024
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00021
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_152564.5(VPS13B):c.6658-13T>A rs369117364 0.00019
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu) rs755937467 0.00015
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.11474A>G (p.Asn3825Ser) rs199741560 0.00014
NM_152564.5(VPS13B):c.2748A>G (p.Pro916=) rs144830924 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu) rs139732310 0.00013
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=) rs766373133 0.00011
NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile) rs151247807 0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152564.5(VPS13B):c.709C>T (p.Arg237Cys) rs376296532 0.00010
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_152564.5(VPS13B):c.1464G>A (p.Thr488=) rs727504217 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) rs61754503 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) rs150941426 0.00008
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu) rs143187571 0.00007
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) rs147907236 0.00007
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) rs552843068 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216 0.00006
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_152564.5(VPS13B):c.1303-9G>A rs370251445 0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) rs200519753 0.00006
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe) rs367999029 0.00006
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val) rs745651556 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00006
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=) rs201517365 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) rs139227281 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His) rs773472945 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) rs763052877 0.00005
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) rs141275433 0.00005
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser) rs368357351 0.00005
NM_017890.5(VPS13B):c.4231C>T (p.Arg1411Cys) rs376954713 0.00004
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=) rs768029540 0.00004
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) rs149659649 0.00004
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00004
NM_152564.5(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405 0.00004
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091 0.00004
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly) rs368595026 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) rs199574731 0.00004
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) rs754939057 0.00004
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly) rs1288339042 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp) rs781460252 0.00004
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys) rs371325199 0.00004
NM_152564.5(VPS13B):c.8713A>C (p.Asn2905His) rs770344131 0.00004
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=) rs574238919 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) rs750693109 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) rs545957190 0.00003
NM_152564.5(VPS13B):c.11745+5G>A rs398124328 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.581-10T>C rs770058631 0.00003
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) rs886043216 0.00003
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln) rs146092684 0.00003
NM_152564.5(VPS13B):c.8161G>A (p.Val2721Ile) rs748674763 0.00003
NM_152564.5(VPS13B):c.8441G>A (p.Arg2814Gln) rs148333124 0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=) rs763701016 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=) rs749865979 0.00002
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile) rs367609176 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) rs549702100 0.00002
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=) rs755448442 0.00002
NM_152564.5(VPS13B):c.11757C>T (p.Val3919=) rs757616720 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly) rs1289522615 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) rs200774003 0.00002
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) rs138148013 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.6887T>C (p.Val2296Ala) rs727504218 0.00002
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr) rs369062407 0.00002
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) rs398124338 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup) rs747778859 0.00002
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr) rs749573516 0.00002
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=) rs1246500568 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg) rs377348581 0.00001
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=) rs374129601 0.00001
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) rs779782582 0.00001
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) rs398124325 0.00001
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=) rs1302374134 0.00001
NM_152564.5(VPS13B):c.10513C>T (p.Arg3505Trp) rs763017122 0.00001
NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe) rs759427770 0.00001
NM_152564.5(VPS13B):c.10522G>A (p.Val3508Met) rs142957181 0.00001
NM_152564.5(VPS13B):c.10682G>A (p.Arg3561Gln) rs549125520 0.00001
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr) rs759972908 0.00001
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=) rs781760595 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met) rs1318142770 0.00001
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11577T>C (p.His3859=) rs771158927 0.00001
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00001
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=) rs749637946 0.00001
NM_152564.5(VPS13B):c.11745+4C>T rs751045565 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro) rs902783600 0.00001
NM_152564.5(VPS13B):c.1567A>G (p.Thr523Ala) rs146659631 0.00001
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu) rs750429731 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.234A>G (p.Pro78=) rs372597619 0.00001
NM_152564.5(VPS13B):c.2516-5A>T rs756282496 0.00001
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=) rs192509060 0.00001
NM_152564.5(VPS13B):c.2788C>T (p.Gln930Ter) rs372949456 0.00001
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.2912G>A (p.Arg971Gln) rs778413172 0.00001
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val) rs1169113054 0.00001
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=) rs371674854 0.00001
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys) rs368290618 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met) rs758040462 0.00001
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) rs757707584 0.00001
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) rs751715193 0.00001
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278 0.00001
NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn) rs1441125749 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_152564.5(VPS13B):c.4286C>A (p.Thr1429Lys) rs1232811849 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn) rs138417551 0.00001
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val) rs760057249 0.00001
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr) rs954564707 0.00001
NM_152564.5(VPS13B):c.4833T>C (p.Ile1611=) rs1380489766 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.502G>A (p.Val168Ile) rs750201290 0.00001
NM_152564.5(VPS13B):c.5087T>C (p.Val1696Ala) rs878852995 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs) rs1829394659 0.00001
NM_152564.5(VPS13B):c.559C>T (p.Arg187Cys) rs367561688 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg) rs1422533086 0.00001
NM_152564.5(VPS13B):c.6021G>T (p.Gln2007His) rs398124335 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys) rs367838871 0.00001
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro) rs1366756885 0.00001
NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val) rs794727599 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val) rs765664729 0.00001
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile) rs549157416 0.00001
NM_152564.5(VPS13B):c.78A>G (p.Leu26=) rs745980143 0.00001
NM_152564.5(VPS13B):c.7939C>T (p.Gln2647Ter) rs753282248 0.00001
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) rs555559192 0.00001
NM_152564.5(VPS13B):c.7999G>A (p.Val2667Met) rs1250056053 0.00001
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser) rs762186948 0.00001
NM_152564.5(VPS13B):c.8045G>A (p.Arg2682Gln) rs941818698 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8173A>G (p.Ile2725Val) rs201127443 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8391T>C (p.Tyr2797=) rs1221576628 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152564.5(VPS13B):c.8460T>C (p.Pro2820=) rs750875099 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=) rs773387480 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg) rs758775003 0.00001
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) rs769856598 0.00001
NM_152564.5(VPS13B):c.9782C>T (p.Ser3261Phe) rs1372759268 0.00001
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) rs756531043 0.00001
GRCh37/hg19 8q22.2(chr8:100032327-100217652)x1
GRCh37/hg19 8q22.2(chr8:100032341-100088337)x1
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100091912-100198780)x1
GRCh37/hg19 8q22.2(chr8:100115181-100115348)x1
GRCh37/hg19 8q22.2(chr8:100120427-100423020)x1
GRCh37/hg19 8q22.2(chr8:100121961-100331982)x1
GRCh37/hg19 8q22.2(chr8:100251329-100422704)x1
GRCh37/hg19 8q22.2(chr8:100276485-100494359)x1
GRCh37/hg19 8q22.2(chr8:100286427-100287483)x1
GRCh37/hg19 8q22.2(chr8:100324335-100564600)x1
GRCh37/hg19 8q22.2(chr8:100342240-100494359)x1
GRCh37/hg19 8q22.2(chr8:100356422-100777020)x1
GRCh37/hg19 8q22.2(chr8:100523332-100523740)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
GRCh37/hg19 8q22.2(chr8:100673582-100673719)x1
GRCh37/hg19 8q22.2(chr8:99975705-100209173)x3
GRCh37/hg19 8q22.2(chr8:99991771-100220890)x1
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.5(VPS13B):c.4200C>T (p.Val1400=) rs398124333
NM_017890.5(VPS13B):c.4218C>A (p.Asp1406Glu)
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*264_*265dup
NM_152564.5(VPS13B):c.*33_*34insGATT rs2130991117
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.1002T>G (p.Tyr334Ter) rs1057519182
NM_152564.5(VPS13B):c.10061+94T>C
NM_152564.5(VPS13B):c.10078G>T (p.Val3360Phe) rs1563509454
NM_152564.5(VPS13B):c.10132A>G (p.Thr3378Ala)
NM_152564.5(VPS13B):c.10196C>T (p.Ala3399Val)
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)
NM_152564.5(VPS13B):c.10334del (p.Val3445fs)
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.10478A>G (p.Asp3493Gly) rs587780497
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp) rs1588786822
NM_152564.5(VPS13B):c.10665G>A (p.Val3555=)
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10753G>A (p.Asp3585Asn) rs1311421082
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.10904del (p.Pro3635fs) rs2130933492
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194
NM_152564.5(VPS13B):c.10993G>A (p.Val3665Met)
NM_152564.5(VPS13B):c.11019A>G (p.Thr3673=)
NM_152564.5(VPS13B):c.11029_11030del (p.Lys3677fs)
NM_152564.5(VPS13B):c.11044+58del rs10710929
NM_152564.5(VPS13B):c.11044+58dup rs10710929
NM_152564.5(VPS13B):c.11078G>C (p.Ser3693Thr) rs398124327
NM_152564.5(VPS13B):c.11093T>C (p.Met3698Thr) rs1816852231
NM_152564.5(VPS13B):c.11124_11125delinsT (p.Asn3709fs) rs1064793747
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg) rs1816856108
NM_152564.5(VPS13B):c.11170G>T (p.Glu3724Ter) rs180177372
NM_152564.5(VPS13B):c.11171_11174dup (p.Leu3726fs) rs1057518228
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
NM_152564.5(VPS13B):c.11259del (p.Thr3755fs) rs1064795251
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.1132C>G (p.Gln378Glu)
NM_152564.5(VPS13B):c.11378C>G (p.Ser3793Ter) rs794727771
NM_152564.5(VPS13B):c.11393-2A>C rs1554588038
NM_152564.5(VPS13B):c.11489_11490del (p.Tyr3830fs) rs180177373
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11763G>A (p.Glu3921=)
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.1184C>T (p.Thr395Ile)
NM_152564.5(VPS13B):c.11884C>T (p.Pro3962Ser) rs201483764
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.5(VPS13B):c.11915_11916insG (p.Val3972_Asp3973insTer)
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1336C>T (p.Gln446Ter) rs1554634138
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=) rs778708757
NM_152564.5(VPS13B):c.1528C>G (p.Arg510Gly) rs139141291
NM_152564.5(VPS13B):c.1552A>T (p.Thr518Ser) rs766801968
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr) rs1810086193
NM_152564.5(VPS13B):c.1609del (p.Tyr537fs)
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val)
NM_152564.5(VPS13B):c.1651+1G>A rs758266941
NM_152564.5(VPS13B):c.1679C>G (p.Ser560Ter) rs2132581038
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1831del (p.Arg611fs)
NM_152564.5(VPS13B):c.1843+175G>T rs77732757
NM_152564.5(VPS13B):c.1843+293dup rs751722197
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr) rs1027919525
NM_152564.5(VPS13B):c.1913C>G (p.Thr638Ser)
NM_152564.5(VPS13B):c.1948T>C (p.Cys650Arg) rs1445340623
NM_152564.5(VPS13B):c.1957T>A (p.Ser653Thr)
NM_152564.5(VPS13B):c.2013+59_2013+61del rs199769640
NM_152564.5(VPS13B):c.2013+60_2013+61del rs199769640
NM_152564.5(VPS13B):c.2013+61del rs199769640
NM_152564.5(VPS13B):c.2013+61dup rs199769640
NM_152564.5(VPS13B):c.2014-15A>G rs1811373750
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
NM_152564.5(VPS13B):c.2224G>A (p.Ala742Thr)
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala) rs779218452
NM_152564.5(VPS13B):c.2333+303del rs201052260
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu) rs370570714
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) rs1813688418
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met)
NM_152564.5(VPS13B):c.2515+16525del rs59727162
NM_152564.5(VPS13B):c.2515+16591C>G
NM_152564.5(VPS13B):c.2515+16841dup rs55729003
NM_152564.5(VPS13B):c.2569G>C (p.Glu857Gln) rs886042520
NM_152564.5(VPS13B):c.2589A>G (p.Thr863=) rs865998297
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2650+232del rs5893486
NM_152564.5(VPS13B):c.2698G>A (p.Asp900Asn)
NM_152564.5(VPS13B):c.2714A>G (p.His905Arg)
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2816A>G (p.His939Arg) rs1563641697
NM_152564.5(VPS13B):c.2824+34G>T rs895295438
NM_152564.5(VPS13B):c.2824+51_2824+53del rs11332378
NM_152564.5(VPS13B):c.2824+52_2824+53del rs11332378
NM_152564.5(VPS13B):c.2824+53del rs11332378
NM_152564.5(VPS13B):c.2824+94dup rs200867011
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.2830G>A (p.Val944Ile) rs753607562
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_152564.5(VPS13B):c.285G>A (p.Gly95=) rs2132222228
NM_152564.5(VPS13B):c.2867_2869del (p.Ile956_Asp957delinsAsn) rs2133295202
NM_152564.5(VPS13B):c.291+137_291+139del rs34774482
NM_152564.5(VPS13B):c.291+139del rs34774482
NM_152564.5(VPS13B):c.291+139dup rs34774482
NM_152564.5(VPS13B):c.292-1G>A rs1057520768
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+263del rs141217373
NM_152564.5(VPS13B):c.2964G>A (p.Met988Ile)
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met)
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3083-5C>G
NM_152564.5(VPS13B):c.3083-86A>T rs3103703
NM_152564.5(VPS13B):c.3148G>A (p.Glu1050Lys) rs794727363
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3393G>A (p.Met1131Ile)
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_152564.5(VPS13B):c.3445+247G>A rs3105195
NM_152564.5(VPS13B):c.3515C>T (p.Thr1172Ile) rs1306881471
NM_152564.5(VPS13B):c.3577C>G (p.Leu1193Val)
NM_152564.5(VPS13B):c.3595A>G (p.Thr1199Ala) rs1563746444
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_152564.5(VPS13B):c.3666+77_3666+158dup rs2133511779
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=)
NM_152564.5(VPS13B):c.4042+116_4042+117insGTC rs751667230
NM_152564.5(VPS13B):c.4042+117_4042+120del
NM_152564.5(VPS13B):c.4042+124_4042+125insTTCC
NM_152564.5(VPS13B):c.4042+285C>T rs149905388
NM_152564.5(VPS13B):c.4042+39TCCC[10] rs554230536
NM_152564.5(VPS13B):c.4042+39TCCC[11] rs554230536
NM_152564.5(VPS13B):c.4042+39TCCC[7] rs554230536
NM_152564.5(VPS13B):c.4042+39TCCC[9] rs554230536
NM_152564.5(VPS13B):c.4042+68C>T rs146234458
NM_152564.5(VPS13B):c.4042+90TCTG[4] rs369706839
NM_152564.5(VPS13B):c.4042+90TCTG[7] rs369706839
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.412+340_412+341del rs56378823
NM_152564.5(VPS13B):c.412+341del rs56378823
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser)
NM_152564.5(VPS13B):c.4157+105A>G rs550251651
NM_152564.5(VPS13B):c.420G>A (p.Val140=) rs1379154568
NM_152564.5(VPS13B):c.4224+1G>C rs376982982
NM_152564.5(VPS13B):c.4225-3C>A
NM_152564.5(VPS13B):c.4225-55_4225-54insA rs201718862
NM_152564.5(VPS13B):c.4240C>G (p.Leu1414Val)
NM_152564.5(VPS13B):c.4280C>T (p.Thr1427Ile) rs2133637221
NM_152564.5(VPS13B):c.4290A>T (p.Lys1430Asn) rs2133637258
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys)
NM_152564.5(VPS13B):c.4325C>G (p.Ser1442Ter)
NM_152564.5(VPS13B):c.437G>A (p.Arg146Gln) rs1230213879
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu)
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg) rs1821780332
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4746-85C>T rs1487024
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4880C>G (p.Ser1627Ter) rs180177361
NM_152564.5(VPS13B):c.4949+1G>A
NM_152564.5(VPS13B):c.4949+241dup rs5893492
NM_152564.5(VPS13B):c.4950-29G>A
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp)
NM_152564.5(VPS13B):c.4989dup (p.Val1664fs)
NM_152564.5(VPS13B):c.5005dup (p.Ser1669fs) rs886042930
NM_152564.5(VPS13B):c.5135T>C (p.Phe1712Ser) rs1239050787
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.524C>G (p.Ser175Cys) rs398124334
NM_152564.5(VPS13B):c.5329A>C (p.Lys1777Gln) rs1204705363
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5360G>T (p.Ser1787Ile) rs1085307957
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5436T>G (p.Phe1812Leu) rs2133931748
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val)
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.5783C>A (p.Pro1928His)
NM_152564.5(VPS13B):c.5793C>G (p.Tyr1931Ter)
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.5864T>C (p.Phe1955Ser)
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-2A>T rs1554892004
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5952T>G (p.Val1984=)
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter) rs1554892040
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) rs1830219226
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6020A>G (p.Gln2007Arg) rs1729163795
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr)
NM_152564.5(VPS13B):c.6165A>G (p.Glu2055=)
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) rs747116389
NM_152564.5(VPS13B):c.6266G>T (p.Gly2089Val) rs398124336
NM_152564.5(VPS13B):c.6309_6310del (p.Ser2104fs) rs1064796925
NM_152564.5(VPS13B):c.634C>T (p.Leu212Phe)
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6535C>G (p.Leu2179Val)
NM_152564.5(VPS13B):c.6538A>G (p.Ile2180Val) rs1179122669
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) rs1046756662
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6710T>C (p.Leu2237Pro)
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6825_6827del (p.Asp2276del)
NM_152564.5(VPS13B):c.6853G>A (p.Val2285Ile)
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg) rs200713917
NM_152564.5(VPS13B):c.6931A>T (p.Met2311Leu) rs797046095
NM_152564.5(VPS13B):c.6G>T (p.Leu2=) rs752072948
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7078G>T (p.Glu2360Ter) rs180177368
NM_152564.5(VPS13B):c.710G>C (p.Arg237Pro)
NM_152564.5(VPS13B):c.7145A>C (p.Gln2382Pro) rs780959088
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7247_7247+1delinsATGGAGC rs180177367
NM_152564.5(VPS13B):c.7304C>T (p.Ala2435Val)
NM_152564.5(VPS13B):c.7377G>C (p.Gln2459His)
NM_152564.5(VPS13B):c.7446_7453dup (p.Phe2485fs) rs2130678319
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter) rs980463746
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn) rs780602782
NM_152564.5(VPS13B):c.7552_7555del (p.Cys2518fs) rs886041587
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg)
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile) rs1812159282
NM_152564.5(VPS13B):c.7892C>T (p.Ala2631Val) rs768459862
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu)
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.8134T>C (p.Leu2712=)
NM_152564.5(VPS13B):c.8159T>C (p.Val2720Ala) rs369898130
NM_152564.5(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_152564.5(VPS13B):c.8179C>T (p.Gln2727Ter) rs886041678
NM_152564.5(VPS13B):c.8185G>A (p.Gly2729Arg) rs794727679
NM_152564.5(VPS13B):c.8208T>C (p.His2736=)
NM_152564.5(VPS13B):c.8217C>A (p.Cys2739Ter) rs180177369
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.8252T>C (p.Leu2751Pro) rs1563488848
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs) rs1554565645
NM_152564.5(VPS13B):c.8294G>A (p.Gly2765Glu)
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8457C>T (p.Ser2819=)
NM_152564.5(VPS13B):c.8512_8516del (p.Lys2838fs) rs1814195897
NM_152564.5(VPS13B):c.8588C>G (p.Pro2863Arg)
NM_152564.5(VPS13B):c.8603A>G (p.His2868Arg)
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=) rs765352584
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8800C>T (p.Gln2934Ter)
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8995-190AC[19] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[28] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[29] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[30] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[31] rs755074579
NM_152564.5(VPS13B):c.8995-190AC[33] rs755074579
NM_152564.5(VPS13B):c.8995-232dup rs71572044
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9173G>A (p.Gly3058Glu)
NM_152564.5(VPS13B):c.9183+6A>G rs369495448
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly) rs1814518745
NM_152564.5(VPS13B):c.9247A>C (p.Lys3083Gln)
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9330+222C>T rs61439510
NM_152564.5(VPS13B):c.9330+2T>C rs1554570388
NM_152564.5(VPS13B):c.9331-137C>A rs58393536
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-1delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT rs2130857700
NM_152564.5(VPS13B):c.9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-5_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn)
NM_152564.5(VPS13B):c.9459C>G (p.Ser3153=)
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616
NM_152564.5(VPS13B):c.9608G>A (p.Cys3203Tyr) rs747611342
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9796C>T (p.His3266Tyr) rs1815349470
NM_152564.5(VPS13B):c.984T>A (p.His328Gln)
NM_152564.5(VPS13B):c.986A>C (p.Lys329Thr) rs1195441250
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734

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