ClinVar Miner

List of variants in gene VPS13B studied for VPS13B-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 964
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00648
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00445
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00228
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00201
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00157
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.1832G>A (p.Arg611Lys) rs61754109 0.00121
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00110
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00104
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
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.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00071
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00058
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.8171A>G (p.Tyr2724Cys) rs138453594 0.00050
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00048
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00042
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NC_000008.11:g.100471156A>G rs541959816 0.00037
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00033
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00032
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00032
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00029
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701 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.2515+16591C>G rs369218128 0.00028
NM_152564.5(VPS13B):c.10867+37G>A rs374061062 0.00027
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00027
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00025
NM_152564.5(VPS13B):c.9783C>T (p.Ser3261=) rs147242148 0.00025
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala) rs147576864 0.00024
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly) rs143295587 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00021
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=) rs575051014 0.00019
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00019
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00019
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=) rs142850229 0.00019
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00018
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.6833G>A (p.Arg2278Gln) rs748374112 0.00017
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00016
NM_152564.5(VPS13B):c.4746-3C>A rs199884841 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.4254T>G (p.His1418Gln) rs201349007 0.00015
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=) rs373550277 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.4746-7T>C rs201136777 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe) rs774565889 0.00014
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00013
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00013
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu) rs755937467 0.00013
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00013
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_152564.5(VPS13B):c.6048G>A (p.Ala2016=) rs200691718 0.00013
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu) rs139732310 0.00013
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00013
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=) rs142939294 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NC_000008.11:g.100471152C>T rs934582701 0.00011
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=) rs200635121 0.00011
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=) rs766373133 0.00011
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe) rs760792770 0.00011
NM_152564.5(VPS13B):c.3621C>T (p.Leu1207=) rs373889030 0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys) rs375652507 0.00011
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676 0.00011
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00011
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=) rs370903187 0.00011
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00011
NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=) rs201517365 0.00011
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys) rs143787982 0.00011
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00010
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys) rs374072699 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 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.11885C>G (p.Pro3962Arg) rs531619892 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_152564.5(VPS13B):c.4791C>T (p.Ile1597=) rs543837370 0.00009
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=) rs148773425 0.00009
NM_152564.5(VPS13B):c.7164C>T (p.Leu2388=) rs374136243 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu) rs149017920 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00008
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) rs180177372 0.00008
NM_152564.5(VPS13B):c.3150A>G (p.Glu1050=) rs144920754 0.00008
NM_152564.5(VPS13B):c.3650A>C (p.Lys1217Thr) rs138000928 0.00008
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) rs552843068 0.00008
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) rs150941426 0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00007
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) rs147907236 0.00007
NM_152564.5(VPS13B):c.329G>A (p.Arg110His) rs61754110 0.00007
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His) rs531149269 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.5631G>A (p.Arg1877=) rs937213176 0.00007
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val) rs369100428 0.00007
NM_152564.5(VPS13B):c.8097+10T>C rs971919054 0.00007
NM_152564.5(VPS13B):c.8177G>A (p.Gly2726Asp) rs376283724 0.00007
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His) rs141408531 0.00007
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His) rs150464408 0.00006
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.1209C>T (p.Leu403=) rs756539595 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 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.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.2655T>C (p.Asp885=) rs769466569 0.00006
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp) rs551933357 0.00006
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp) rs376467374 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) rs145265055 0.00006
NM_152564.5(VPS13B):c.9830C>T (p.Pro3277Leu) rs141138612 0.00006
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) rs139227281 0.00005
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr) rs528991858 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr) rs868118584 0.00005
NM_152564.5(VPS13B):c.11240A>G (p.Gln3747Arg) rs779751988 0.00005
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn) rs1419202718 0.00005
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00005
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn) rs771105877 0.00005
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=) rs149919865 0.00005
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His) rs773472945 0.00005
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe) rs367999029 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.3180T>C (p.Val1060=) rs528478636 0.00005
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=) rs772263007 0.00005
NM_152564.5(VPS13B):c.4121A>C (p.Lys1374Thr) rs748331172 0.00005
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile) rs138577821 0.00005
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser) rs201363767 0.00005
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) rs141275433 0.00005
NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val) rs761504023 0.00005
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) rs183874686 0.00005
NM_152564.5(VPS13B):c.7247+9T>C rs545008110 0.00005
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=) rs766519309 0.00005
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg) rs754632431 0.00005
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00005
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser) rs368357351 0.00005
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00005
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00005
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln) rs544366805 0.00005
NM_152564.5(VPS13B):c.9657T>C (p.Tyr3219=) rs780634043 0.00005
NM_017890.5(VPS13B):c.4231C>T (p.Arg1411Cys) rs376954713 0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10714G>A (p.Val3572Ile) rs369258469 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.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.11098C>T (p.Arg3700Trp) rs779427167 0.00004
NM_152564.5(VPS13B):c.11129G>A (p.Arg3710Gln) rs987017060 0.00004
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.1168A>G (p.Ile390Val) rs563261178 0.00004
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys) rs747131665 0.00004
NM_152564.5(VPS13B):c.11883C>G (p.Pro3961=) rs763272836 0.00004
NM_152564.5(VPS13B):c.1365G>A (p.Met455Ile) rs1187769339 0.00004
NM_152564.5(VPS13B):c.1492T>C (p.Leu498=) rs752775103 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.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2016C>T (p.Asn672=) rs780448792 0.00004
NM_152564.5(VPS13B):c.2438A>G (p.Gln813Arg) rs146195479 0.00004
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788 0.00004
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser) rs370336663 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.2950G>C (p.Val984Leu) rs148422160 0.00004
NM_152564.5(VPS13B):c.3082+9C>G rs529476662 0.00004
NM_152564.5(VPS13B):c.3432C>T (p.Pro1144=) rs375994361 0.00004
NM_152564.5(VPS13B):c.3564G>A (p.Thr1188=) rs140905518 0.00004
NM_152564.5(VPS13B):c.3584C>T (p.Thr1195Met) rs778388170 0.00004
NM_152564.5(VPS13B):c.366G>A (p.Pro122=) rs373340298 0.00004
NM_152564.5(VPS13B):c.3784A>G (p.Thr1262Ala) rs199872639 0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) rs754939057 0.00004
NM_152564.5(VPS13B):c.4285A>T (p.Thr1429Ser) rs764653250 0.00004
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe) rs61754112 0.00004
NM_152564.5(VPS13B):c.450T>C (p.Asn150=) rs746257136 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_152564.5(VPS13B):c.5012G>A (p.Arg1671Gln) rs565360322 0.00004
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile) rs529286193 0.00004
NM_152564.5(VPS13B):c.5141G>A (p.Ser1714Asn) rs1343776715 0.00004
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) rs763703607 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.5636G>A (p.Ser1879Asn) rs760882381 0.00004
NM_152564.5(VPS13B):c.6047-10A>G rs761450531 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.6658-8T>C rs1448547844 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152564.5(VPS13B):c.7848A>G (p.Thr2616=) rs757256533 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.9786G>A (p.Glu3262=) rs138221649 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152564.5(VPS13B):c.9921C>T (p.Asp3307=) rs754001219 0.00004
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=) rs151315104 0.00003
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg) rs373773690 0.00003
NM_152564.5(VPS13B):c.10533A>G (p.Thr3511=) rs763725361 0.00003
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) rs781253026 0.00003
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu) rs781672013 0.00003
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) rs750693109 0.00003
NM_152564.5(VPS13B):c.1064C>A (p.Ala355Glu) rs368837821 0.00003
NM_152564.5(VPS13B):c.10682G>A (p.Arg3561Gln) rs549125520 0.00003
NM_152564.5(VPS13B):c.10725C>T (p.His3575=) rs757408143 0.00003
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00003
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=) rs773474909 0.00003
NM_152564.5(VPS13B):c.11021C>T (p.Ser3674Leu) rs771376605 0.00003
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp) rs147891367 0.00003
NM_152564.5(VPS13B):c.11146C>T (p.Arg3716Trp) rs773324603 0.00003
NM_152564.5(VPS13B):c.11208C>T (p.Ser3736=) rs751880506 0.00003
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) rs545957190 0.00003
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser) rs184614305 0.00003
NM_152564.5(VPS13B):c.1198A>G (p.Thr400Ala) rs139093635 0.00003
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00003
NM_152564.5(VPS13B):c.1335C>T (p.Cys445=) rs765890153 0.00003
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly) rs368595026 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.1904A>G (p.Tyr635Cys) rs761692416 0.00003
NM_152564.5(VPS13B):c.2515+16595C>T rs868773864 0.00003
NM_152564.5(VPS13B):c.2687A>G (p.Gln896Arg) rs1269673113 0.00003
NM_152564.5(VPS13B):c.2808C>T (p.Asp936=) rs377174760 0.00003
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met) rs750709127 0.00003
NM_152564.5(VPS13B):c.3089G>A (p.Arg1030His) rs182764947 0.00003
NM_152564.5(VPS13B):c.3211C>T (p.Leu1071Phe) rs547144228 0.00003
NM_152564.5(VPS13B):c.3535A>G (p.Met1179Val) rs764040349 0.00003
NM_152564.5(VPS13B):c.3666+6T>C rs374468508 0.00003
NM_152564.5(VPS13B):c.3871-8C>T rs371508311 0.00003
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) rs200229383 0.00003
NM_152564.5(VPS13B):c.4157+5A>G rs201027029 0.00003
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln) rs754267693 0.00003
NM_152564.5(VPS13B):c.4949+6_4949+19del rs772683760 0.00003
NM_152564.5(VPS13B):c.4950-29G>A rs773932376 0.00003
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln) rs751699219 0.00003
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu) rs965365158 0.00003
NM_152564.5(VPS13B):c.5072C>G (p.Thr1691Ser) rs966152558 0.00003
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val) rs1055918734 0.00003
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00003
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=) rs1196457576 0.00003
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 0.00003
NM_152564.5(VPS13B):c.6453T>G (p.Pro2151=) rs536727985 0.00003
NM_152564.5(VPS13B):c.6539T>C (p.Ile2180Thr) rs1037803923 0.00003
NM_152564.5(VPS13B):c.723A>G (p.Thr241=) rs778049327 0.00003
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) rs886043216 0.00003
NM_152564.5(VPS13B):c.7319C>T (p.Thr2440Ile) rs777428883 0.00003
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln) rs146092684 0.00003
NM_152564.5(VPS13B):c.7620A>C (p.Gln2540His) rs1333115796 0.00003
NM_152564.5(VPS13B):c.7853G>A (p.Arg2618Gln) rs569563358 0.00003
NM_152564.5(VPS13B):c.8011G>A (p.Gly2671Arg) rs568716604 0.00003
NM_152564.5(VPS13B):c.8161G>A (p.Val2721Ile) rs748674763 0.00003
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00003
NM_152564.5(VPS13B):c.8266C>G (p.Leu2756Val) rs141360806 0.00003
NM_152564.5(VPS13B):c.8361+13G>A rs757732868 0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=) rs763701016 0.00003
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys) rs753075331 0.00003
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile) rs750349908 0.00003
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys) rs886062535 0.00003
NM_152564.5(VPS13B):c.9421T>C (p.Leu3141=) rs373968887 0.00003
NM_152564.5(VPS13B):c.9745A>G (p.Ile3249Val) rs1314210823 0.00003
NM_152564.5(VPS13B):c.9942+9G>T rs942110632 0.00003
NM_152564.5(VPS13B):c.9993G>A (p.Gln3331=) rs201746251 0.00003
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr) rs144187978 0.00002
NM_152564.5(VPS13B):c.10062-7C>T rs1588785807 0.00002
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr) rs377394274 0.00002
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser) rs142411465 0.00002
NM_152564.5(VPS13B):c.10878T>C (p.Val3626=) rs1334951450 0.00002
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) rs748727467 0.00002
NM_152564.5(VPS13B):c.11049C>T (p.Thr3683=) rs1474618669 0.00002
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) rs560723051 0.00002
NM_152564.5(VPS13B):c.11495+10T>C rs1250469602 0.00002
NM_152564.5(VPS13B):c.11523A>T (p.Pro3841=) rs755978513 0.00002
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00002
NM_152564.5(VPS13B):c.11691G>C (p.Gln3897His) rs371985144 0.00002
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=) rs755448442 0.00002
NM_152564.5(VPS13B):c.11877A>C (p.Glu3959Asp) rs774988681 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_152564.5(VPS13B):c.1303-10C>T rs748144840 0.00002
NM_152564.5(VPS13B):c.1425+8C>T rs758851977 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.1554T>C (p.Thr518=) rs139849251 0.00002
NM_152564.5(VPS13B):c.1776T>C (p.His592=) rs756818683 0.00002
NM_152564.5(VPS13B):c.1934T>A (p.Leu645His) rs762365698 0.00002
NM_152564.5(VPS13B):c.2515+16617C>T rs1033286219 0.00002
NM_152564.5(VPS13B):c.3094T>C (p.Leu1032=) rs373538168 0.00002
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=) rs776213275 0.00002
NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=) rs367791771 0.00002
NM_152564.5(VPS13B):c.3533C>G (p.Pro1178Arg) rs1391680745 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.3714C>T (p.Asn1238=) rs749086106 0.00002
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.4224+560C>T rs368951087 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.5120C>T (p.Thr1707Ile) rs1430604594 0.00002
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp) rs751179813 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys) rs751912986 0.00002
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00002
NM_152564.5(VPS13B):c.5850G>A (p.Val1950=) rs747547095 0.00002
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val) rs534890892 0.00002
NM_152564.5(VPS13B):c.7245A>G (p.Gln2415=) rs781046978 0.00002
NM_152564.5(VPS13B):c.732C>T (p.Asn244=) rs774354165 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_152564.5(VPS13B):c.7645T>C (p.Phe2549Leu) rs377498258 0.00002
NM_152564.5(VPS13B):c.7698C>T (p.Thr2566=) rs750908734 0.00002
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=) rs145460276 0.00002
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser) rs145899918 0.00002
NM_152564.5(VPS13B):c.8200C>T (p.Arg2734Trp) rs749023338 0.00002
NM_152564.5(VPS13B):c.8474G>A (p.Arg2825Lys) rs751906148 0.00002
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu) rs760166376 0.00002
NM_152564.5(VPS13B):c.8793-4A>T rs1158582777 0.00002
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln) rs777528760 0.00002
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu) rs146883974 0.00002
NM_152564.5(VPS13B):c.9161G>T (p.Gly3054Val) rs1399549081 0.00002
NM_152564.5(VPS13B):c.9400A>G (p.Ser3134Gly) rs138889735 0.00002
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00002
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00002
NM_152564.5(VPS13B):c.9742+10A>G rs755760611 0.00002
NM_152564.5(VPS13B):c.9742+2dup rs770968105 0.00002
NC_000008.11:g.100471416C>T rs1260347821 0.00001
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_017890.5(VPS13B):c.4281C>T (p.Cys1427=) rs1563767252 0.00001
NM_152564.5(VPS13B):c.10023A>G (p.Pro3341=) rs767423737 0.00001
NM_152564.5(VPS13B):c.10042A>G (p.Ile3348Val) rs777046028 0.00001
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg) rs377348581 0.00001
NM_152564.5(VPS13B):c.10224A>T (p.Glu3408Asp) rs1424195641 0.00001
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.10247A>G (p.Glu3416Gly) rs772136458 0.00001
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr) rs1816408668 0.00001
NM_152564.5(VPS13B):c.10376T>C (p.Met3459Thr) rs768868798 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.10506A>G (p.Lys3502=) rs1373791263 0.00001
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His) rs773013716 0.00001
NM_152564.5(VPS13B):c.10539A>G (p.Val3513=) rs753290639 0.00001
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) rs745866775 0.00001
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe) rs753058180 0.00001
NM_152564.5(VPS13B):c.10753G>A (p.Asp3585Asn) rs1311421082 0.00001
NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr) rs373605057 0.00001
NM_152564.5(VPS13B):c.10881G>A (p.Gly3627=) rs770336524 0.00001
NM_152564.5(VPS13B):c.10926C>A (p.Ile3642=) rs753373848 0.00001
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194 0.00001
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=) rs773394643 0.00001
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=) rs1374692917 0.00001
NM_152564.5(VPS13B):c.11002G>A (p.Val3668Ile) rs746534351 0.00001
NM_152564.5(VPS13B):c.11022G>A (p.Ser3674=) rs375676564 0.00001
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=) rs199748413 0.00001
NM_152564.5(VPS13B):c.11044+6G>A rs369477759 0.00001
NM_152564.5(VPS13B):c.11045-6C>T rs1250558576 0.00001
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=) rs185477101 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp) rs772640414 0.00001
NM_152564.5(VPS13B):c.1114G>C (p.Ala372Pro) rs1267582816 0.00001
NM_152564.5(VPS13B):c.1118C>T (p.Ser373Leu) rs773391550 0.00001
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=) rs766658666 0.00001
NM_152564.5(VPS13B):c.11355C>T (p.Ile3785=) rs865965849 0.00001
NM_152564.5(VPS13B):c.11393-9T>C rs1370103041 0.00001
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.11471C>T (p.Pro3824Leu) rs75996587 0.00001
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=) rs1817369641 0.00001
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) rs752506829 0.00001
NM_152564.5(VPS13B):c.11518A>C (p.Arg3840=) rs1343441630 0.00001
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile) rs765012695 0.00001
NM_152564.5(VPS13B):c.11733C>T (p.Ala3911=) rs905155393 0.00001
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser) rs763839770 0.00001
NM_152564.5(VPS13B):c.11904C>T (p.Tyr3968=) rs1817662607 0.00001
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu) rs1168148534 0.00001
NM_152564.5(VPS13B):c.1206+24A>T rs757901988 0.00001
NM_152564.5(VPS13B):c.1206+34C>G rs1378205846 0.00001
NM_152564.5(VPS13B):c.1229G>A (p.Ser410Asn) rs1465978289 0.00001
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala) rs760810471 0.00001
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu) rs774113287 0.00001
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr) rs1431957435 0.00001
NM_152564.5(VPS13B):c.1553C>T (p.Thr518Ile) rs751932917 0.00001
NM_152564.5(VPS13B):c.1623G>C (p.Leu541=) rs1193051483 0.00001
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly) rs1372588907 0.00001
NM_152564.5(VPS13B):c.1652-7C>A rs2132580880 0.00001
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=) rs2488785957 0.00001
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His) rs756072319 0.00001
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475 0.00001
NM_152564.5(VPS13B):c.1773G>A (p.Val591=) rs1392301831 0.00001
NM_152564.5(VPS13B):c.1844A>G (p.Asp615Gly) rs1810824306 0.00001
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537 0.00001
NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser) rs1413120643 0.00001
NM_152564.5(VPS13B):c.207A>T (p.Val69=) rs772922484 0.00001
NM_152564.5(VPS13B):c.2333+10A>G rs933132905 0.00001
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu) rs370855171 0.00001
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg) rs1229393575 0.00001
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val) rs147924250 0.00001
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met) rs763636307 0.00001
NM_152564.5(VPS13B):c.2516-3T>A rs377723973 0.00001
NM_152564.5(VPS13B):c.2536C>T (p.Leu846=) rs934545731 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.2700C>T (p.Asp900=) rs765522219 0.00001
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=) rs192509060 0.00001
NM_152564.5(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818 0.00001
NM_152564.5(VPS13B):c.2817C>A (p.His939Gln) rs773717018 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=) rs760792770 0.00001
NM_152564.5(VPS13B):c.2956C>T (p.Leu986Phe) rs1262733224 0.00001
NM_152564.5(VPS13B):c.2975G>A (p.Arg992Lys) rs1345250012 0.00001
NM_152564.5(VPS13B):c.3023A>G (p.Gln1008Arg) rs369745645 0.00001
NM_152564.5(VPS13B):c.3027A>G (p.Gln1009=) rs1814454495 0.00001
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val) rs758412930 0.00001
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val) rs780930460 0.00001
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys) rs368290618 0.00001
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=) rs1563732594 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.3453T>C (p.Ala1151=) rs1014978049 0.00001
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met) rs758040462 0.00001
NM_152564.5(VPS13B):c.3553C>T (p.Leu1185=) rs761707088 0.00001
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) rs1279523650 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.3762G>C (p.Glu1254Asp) rs751944327 0.00001
NM_152564.5(VPS13B):c.3807A>C (p.Ile1269=) rs745698032 0.00001
NM_152564.5(VPS13B):c.3827C>T (p.Thr1276Ile) rs567003932 0.00001
NM_152564.5(VPS13B):c.3874G>A (p.Asp1292Asn) rs150662496 0.00001
NM_152564.5(VPS13B):c.3948A>G (p.Gly1316=) rs975356010 0.00001
NM_152564.5(VPS13B):c.3961C>T (p.Arg1321Cys) rs922475155 0.00001
NM_152564.5(VPS13B):c.4034A>G (p.Lys1345Arg) rs1440678043 0.00001
NM_152564.5(VPS13B):c.4058G>A (p.Ser1353Asn) rs1160697460 0.00001
NM_152564.5(VPS13B):c.4062A>C (p.Glu1354Asp) rs752275931 0.00001
NM_152564.5(VPS13B):c.4224+707C>G rs1821585422 0.00001
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys) rs765547105 0.00001
NM_152564.5(VPS13B):c.4357T>C (p.Ser1453Pro) rs771420728 0.00001
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile) rs1457753544 0.00001
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu) rs538237107 0.00001
NM_152564.5(VPS13B):c.4633+4T>C rs1384867213 0.00001
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr) rs750053756 0.00001
NM_152564.5(VPS13B):c.4653A>G (p.Glu1551=) rs368552225 0.00001
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr) rs142708735 0.00001
NM_152564.5(VPS13B):c.4752C>T (p.Ala1584=) rs1824571609 0.00001
NM_152564.5(VPS13B):c.4885G>A (p.Gly1629Arg) rs776600965 0.00001
NM_152564.5(VPS13B):c.4900A>G (p.Thr1634Ala) rs1193101764 0.00001
NM_152564.5(VPS13B):c.4950-10dup rs761293145 0.00001
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) rs770669224 0.00001
NM_152564.5(VPS13B):c.4995G>A (p.Leu1665=) rs139586722 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.501C>T (p.Ile167=) rs765288271 0.00001
NM_152564.5(VPS13B):c.5076+1G>C rs1825747036 0.00001
NM_152564.5(VPS13B):c.5088G>A (p.Val1696=) rs1201956279 0.00001
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr) rs200878381 0.00001
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=) rs746586467 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.5220+8T>C rs78899648 0.00001
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val) rs757833793 0.00001
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His) rs891967669 0.00001
NM_152564.5(VPS13B):c.5469A>G (p.Leu1823=) rs774190999 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 0.00001
NM_152564.5(VPS13B):c.5478T>C (p.Tyr1826=) rs1300751748 0.00001
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=) rs767953687 0.00001
NM_152564.5(VPS13B):c.559C>T (p.Arg187Cys) rs367561688 0.00001
NM_152564.5(VPS13B):c.5650T>G (p.Ser1884Ala) rs1829399025 0.00001
NM_152564.5(VPS13B):c.5677C>T (p.Leu1893Phe) rs758410065 0.00001
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln) rs770439397 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.5904T>C (p.Cys1968=) rs773156709 0.00001
NM_152564.5(VPS13B):c.6047-6C>T rs1386160206 0.00001
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val) rs199837195 0.00001
NM_152564.5(VPS13B):c.6168G>C (p.Glu2056Asp) rs751094528 0.00001
NM_152564.5(VPS13B):c.6190A>G (p.Met2064Val) rs200554315 0.00001
NM_152564.5(VPS13B):c.6221A>C (p.Lys2074Thr) rs1832190048 0.00001
NM_152564.5(VPS13B):c.6258T>C (p.His2086=) rs1472821351 0.00001
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile) rs766003681 0.00001
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys) rs367838871 0.00001
NM_152564.5(VPS13B):c.6437C>T (p.Ala2146Val) rs967172609 0.00001
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=) rs141845131 0.00001
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn) rs767664311 0.00001
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) rs774730061 0.00001
NM_152564.5(VPS13B):c.6592G>A (p.Gly2198Arg) rs751576277 0.00001
NM_152564.5(VPS13B):c.6648T>C (p.Gly2216=) rs746640467 0.00001
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) rs1046756662 0.00001
NM_152564.5(VPS13B):c.6698T>C (p.Leu2233Pro) rs776873589 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg) rs148385830 0.00001
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu) rs754410472 0.00001
NM_152564.5(VPS13B):c.7188A>G (p.Val2396=) rs928101727 0.00001
NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile) rs1811763988 0.00001
NM_152564.5(VPS13B):c.7377G>C (p.Gln2459His) rs2491830663 0.00001
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln) rs752014773 0.00001
NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr) rs779401089 0.00001
NM_152564.5(VPS13B):c.7578A>T (p.Gln2526His) rs1254633467 0.00001
NM_152564.5(VPS13B):c.7622G>T (p.Ser2541Ile) rs762137925 0.00001
NM_152564.5(VPS13B):c.763-10C>T rs375512611 0.00001
NM_152564.5(VPS13B):c.7663T>G (p.Ser2555Ala) rs887354798 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.773T>C (p.Leu258Ser) rs1026827853 0.00001
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His) rs796478997 0.00001
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp) rs779101063 0.00001
NM_152564.5(VPS13B):c.78A>G (p.Leu26=) rs745980143 0.00001
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg) rs760112876 0.00001
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=) rs758430817 0.00001
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) rs555559192 0.00001
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly) rs770879393 0.00001
NM_152564.5(VPS13B):c.8045G>A (p.Arg2682Gln) rs941818698 0.00001
NM_152564.5(VPS13B):c.8061C>G (p.Ile2687Met) rs201866766 0.00001
NM_152564.5(VPS13B):c.8081A>G (p.Asn2694Ser) rs1270195810 0.00001
NM_152564.5(VPS13B):c.813G>C (p.Leu271=) rs1563548958 0.00001
NM_152564.5(VPS13B):c.8148A>G (p.Ile2716Met) rs757132990 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8218C>T (p.Leu2740Phe) rs772183822 0.00001
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val) rs1465869942 0.00001
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=) rs758044842 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8353G>A (p.Val2785Ile) rs377170629 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152564.5(VPS13B):c.8446-10A>G rs1009617201 0.00001
NM_152564.5(VPS13B):c.8446-8T>A rs774202116 0.00001
NM_152564.5(VPS13B):c.8498T>G (p.Ile2833Ser) rs1231452283 0.00001
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser) rs552728714 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_152564.5(VPS13B):c.8691G>A (p.Lys2897=) rs1364307723 0.00001
NM_152564.5(VPS13B):c.8700T>C (p.Pro2900=) rs1316265619 0.00001
NM_152564.5(VPS13B):c.8735A>G (p.Tyr2912Cys) rs769404310 0.00001
NM_152564.5(VPS13B):c.8769C>G (p.Pro2923=) rs1814245219 0.00001
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr) rs1305759367 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
NM_152564.5(VPS13B):c.887A>G (p.Glu296Gly) rs1043484690 0.00001
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=) rs773387480 0.00001
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=) rs756929597 0.00001
NM_152564.5(VPS13B):c.8973T>A (p.Ile2991=) rs1022439402 0.00001
NM_152564.5(VPS13B):c.9062T>C (p.Leu3021Pro) rs1438344336 0.00001
NM_152564.5(VPS13B):c.9156A>T (p.Arg3052Ser) rs747092413 0.00001
NM_152564.5(VPS13B):c.9186A>G (p.Leu3062=) rs984224710 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.927A>C (p.Gly309=) rs1252576777 0.00001
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=) rs780381150 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.938-7T>C rs200067547 0.00001
NM_152564.5(VPS13B):c.9433A>G (p.Ile3145Val) rs756197846 0.00001
NM_152564.5(VPS13B):c.943G>A (p.Glu315Lys) rs1035761875 0.00001
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val) rs905882677 0.00001
NM_152564.5(VPS13B):c.9541G>A (p.Val3181Ile) rs904676214 0.00001
NM_152564.5(VPS13B):c.9546A>G (p.Arg3182=) rs1434707847 0.00001
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala) rs756048204 0.00001
NM_152564.5(VPS13B):c.9662C>A (p.Thr3221Asn) rs143852398 0.00001
NM_152564.5(VPS13B):c.969A>G (p.Gln323=) rs1443301786 0.00001
NM_152564.5(VPS13B):c.9742+3A>G rs375183964 0.00001
NM_152564.5(VPS13B):c.9749C>T (p.Pro3250Leu) rs761208848 0.00001
NC_000008.11:g.100471153G>A
NC_000008.11:g.100471160T>C
NC_000008.11:g.100471415G>C
NC_000008.11:g.100471427T>G
NC_000008.11:g.100471430G>A
NM_017890.5(VPS13B):c.4200C>A (p.Val1400=)
NM_017890.5(VPS13B):c.4249C>T (p.Pro1417Ser)
NM_152564.4(VPS13B):c.4746delG
NM_152564.5(VPS13B):c.10050C>T (p.Thr3350=)
NM_152564.5(VPS13B):c.10113G>T (p.Leu3371=) rs1816396084
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10221G>A (p.Gly3407=)
NM_152564.5(VPS13B):c.10255T>A (p.Cys3419Ser)
NM_152564.5(VPS13B):c.10431T>C (p.Phe3477=)
NM_152564.5(VPS13B):c.10459G>A (p.Gly3487Ser) rs780327800
NM_152564.5(VPS13B):c.10479T>C (p.Asp3493=) rs2492238738
NM_152564.5(VPS13B):c.10497T>C (p.Phe3499=) rs781420614
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) rs781420614
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.10524G>A (p.Val3508=)
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp) rs1588786822
NM_152564.5(VPS13B):c.10605C>T (p.His3535=) rs937349095
NM_152564.5(VPS13B):c.10610C>T (p.Ser3537Phe)
NM_152564.5(VPS13B):c.10616dup (p.Gly3539_Lys3540insTer) rs1816425634
NM_152564.5(VPS13B):c.1075T>C (p.Tyr359His) rs2488710488
NM_152564.5(VPS13B):c.10819G>A (p.Val3607Met)
NM_152564.5(VPS13B):c.1081G>C (p.Asp361His) rs749019850
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys) rs1215467176
NM_152564.5(VPS13B):c.10843G>A (p.Ala3615Thr)
NM_152564.5(VPS13B):c.10884T>C (p.Ser3628=)
NM_152564.5(VPS13B):c.10945TTC[1] (p.Phe3650del) rs2492278209
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=) rs1436199960
NM_152564.5(VPS13B):c.1098T>C (p.Phe366=) rs1490561096
NM_152564.5(VPS13B):c.10993G>A (p.Val3665Met)
NM_152564.5(VPS13B):c.11000G>A (p.Gly3667Asp)
NM_152564.5(VPS13B):c.11013G>A (p.Gly3671=)
NM_152564.5(VPS13B):c.11026G>C (p.Val3676Leu)
NM_152564.5(VPS13B):c.11059A>G (p.Ile3687Val) rs1045389239
NM_152564.5(VPS13B):c.1110T>C (p.Asp370=) rs2488710664
NM_152564.5(VPS13B):c.11147G>A (p.Arg3716Gln)
NM_152564.5(VPS13B):c.11150A>G (p.Gln3717Arg)
NM_152564.5(VPS13B):c.11176C>T (p.Leu3726Phe)
NM_152564.5(VPS13B):c.11191T>A (p.Ser3731Thr)
NM_152564.5(VPS13B):c.11226T>C (p.Ala3742=)
NM_152564.5(VPS13B):c.11293A>C (p.Lys3765Gln)
NM_152564.5(VPS13B):c.11313G>A (p.Ser3771=) rs753931096
NM_152564.5(VPS13B):c.11361A>C (p.Gly3787=)
NM_152564.5(VPS13B):c.11392+9G>A
NM_152564.5(VPS13B):c.1139C>A (p.Ala380Glu)
NM_152564.5(VPS13B):c.11436C>G (p.Arg3812=)
NM_152564.5(VPS13B):c.11459C>G (p.Ala3820Gly)
NM_152564.5(VPS13B):c.11492T>G (p.Val3831Gly)
NM_152564.5(VPS13B):c.11495+8T>C rs942243380
NM_152564.5(VPS13B):c.11510C>T (p.Ser3837Phe)
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11517C>A (p.Gly3839=)
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu) rs752395430
NM_152564.5(VPS13B):c.11572_11574del (p.Glu3858del) rs1442032566
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11619G>A (p.Val3873=) rs113454700
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11664A>G (p.Glu3888=) rs1469738744
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu) rs1325172197
NM_152564.5(VPS13B):c.11705_11706del (p.Thr3902fs)
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11707G>C (p.Val3903Leu)
NM_152564.5(VPS13B):c.11725A>G (p.Arg3909Gly)
NM_152564.5(VPS13B):c.11740G>A (p.Val3914Met)
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del) rs1236948038
NM_152564.5(VPS13B):c.11886C>T (p.Pro3962=)
NM_152564.5(VPS13B):c.11917G>A (p.Asp3973Asn)
NM_152564.5(VPS13B):c.11958G>C (p.Met3986Ile)
NM_152564.5(VPS13B):c.11967_11970del (p.Asn3989fs) rs769983613
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1207-9A>G rs2132553905
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter) rs942483537
NM_152564.5(VPS13B):c.1293T>A (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1302+6C>G rs1186459776
NM_152564.5(VPS13B):c.1303-4A>T rs772842729
NM_152564.5(VPS13B):c.1334_1335delinsTT (p.Cys445Phe) rs1563560499
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu) rs1810005848
NM_152564.5(VPS13B):c.1491A>C (p.Ser497=) rs374276141
NM_152564.5(VPS13B):c.1505G>A (p.Arg502Gln)
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=) rs778708757
NM_152564.5(VPS13B):c.1563+7G>C rs1185654925
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg) rs1810086193
NM_152564.5(VPS13B):c.1631T>C (p.Met544Thr)
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val) rs886062536
NM_152564.5(VPS13B):c.1651+5del rs779435450
NM_152564.5(VPS13B):c.1652-8T>G rs2132580871
NM_152564.5(VPS13B):c.1719C>T (p.Ser573=)
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu) rs372593334
NM_152564.5(VPS13B):c.1815A>T (p.Glu605Asp)
NM_152564.5(VPS13B):c.1839A>G (p.Lys613=)
NM_152564.5(VPS13B):c.1844-8_1844-4del rs745701200
NM_152564.5(VPS13B):c.1845T>A (p.Asp615Glu)
NM_152564.5(VPS13B):c.18A>T (p.Val6=) rs1490457051
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln) rs772958839
NM_152564.5(VPS13B):c.193T>C (p.Leu65=) rs2132222030
NM_152564.5(VPS13B):c.1959C>G (p.Ser653=) rs2132597068
NM_152564.5(VPS13B):c.1968A>T (p.Glu656Asp)
NM_152564.5(VPS13B):c.2001T>A (p.Ile667=) rs747119024
NM_152564.5(VPS13B):c.201T>C (p.Ile67=)
NM_152564.5(VPS13B):c.2039C>G (p.Thr680Arg)
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg) rs372585253
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.2177T>C (p.Leu726Pro) rs2488834422
NM_152564.5(VPS13B):c.2199C>G (p.Cys733Trp)
NM_152564.5(VPS13B):c.2209-5T>C
NM_152564.5(VPS13B):c.2252G>C (p.Gly751Ala)
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys) rs2488877541
NM_152564.5(VPS13B):c.2274A>G (p.Pro758=) rs2488877635
NM_152564.5(VPS13B):c.2282C>G (p.Pro761Arg)
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=) rs1812241934
NM_152564.5(VPS13B):c.2334-6G>C
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=) rs2488954577
NM_152564.5(VPS13B):c.2368A>G (p.Ile790Val)
NM_152564.5(VPS13B):c.238G>C (p.Val80Leu)
NM_152564.5(VPS13B):c.2403A>G (p.Thr801=)
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) rs1813688418
NM_152564.5(VPS13B):c.2488T>G (p.Leu830Val) rs1449471227
NM_152564.5(VPS13B):c.2515+16522_2515+16525del rs59727162
NM_152564.5(VPS13B):c.2515+16523_2515+16525dup
NM_152564.5(VPS13B):c.2515+16524_2515+16525del rs59727162
NM_152564.5(VPS13B):c.2515+16531G>A
NM_152564.5(VPS13B):c.2515+16531G>C
NM_152564.5(VPS13B):c.2515+16550A>G
NM_152564.5(VPS13B):c.2515+16589A>T
NM_152564.5(VPS13B):c.2515+16618G>A
NM_152564.5(VPS13B):c.2516-2A>C
NM_152564.5(VPS13B):c.2518G>A (p.Val840Met) rs141694201
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg) rs1376390404
NM_152564.5(VPS13B):c.2534C>T (p.Pro845Leu)
NM_152564.5(VPS13B):c.2580C>T (p.Tyr860=)
NM_152564.5(VPS13B):c.2592A>G (p.Ser864=) rs2489223196
NM_152564.5(VPS13B):c.25A>G (p.Ile9Val)
NM_152564.5(VPS13B):c.2604T>C (p.Cys868=)
NM_152564.5(VPS13B):c.2715T>C (p.His905=) rs1161109130
NM_152564.5(VPS13B):c.2720C>T (p.Thr907Ile)
NM_152564.5(VPS13B):c.279G>A (p.Lys93=)
NM_152564.5(VPS13B):c.2800T>C (p.Tyr934His) rs1679704470
NM_152564.5(VPS13B):c.2810A>G (p.Tyr937Cys)
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2893_2895del (p.Ile965del) rs748137454
NM_152564.5(VPS13B):c.2987A>C (p.Asp996Ala)
NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly) rs892148263
NM_152564.5(VPS13B):c.3006T>A (p.Ser1002Arg)
NM_152564.5(VPS13B):c.3054C>A (p.Ser1018Arg)
NM_152564.5(VPS13B):c.3073A>C (p.Thr1025Pro) rs1563704495
NM_152564.5(VPS13B):c.3082+9C>A rs529476662
NM_152564.5(VPS13B):c.3083-8G>T rs201973611
NM_152564.5(VPS13B):c.3124A>G (p.Ile1042Val) rs2490099251
NM_152564.5(VPS13B):c.3169A>G (p.Ile1057Val)
NM_152564.5(VPS13B):c.3211-3T>C rs1817719182
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs) rs2490161693
NM_152564.5(VPS13B):c.3344T>G (p.Val1115Gly)
NM_152564.5(VPS13B):c.3404A>G (p.Gln1135Arg)
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_152564.5(VPS13B):c.3445+3A>G
NM_152564.5(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_152564.5(VPS13B):c.3535A>T (p.Met1179Leu) rs764040349
NM_152564.5(VPS13B):c.3549C>T (p.Ser1183=)
NM_152564.5(VPS13B):c.3591T>A (p.Pro1197=) rs757694221
NM_152564.5(VPS13B):c.3638C>T (p.Ser1213Leu)
NM_152564.5(VPS13B):c.3680A>G (p.Tyr1227Cys)
NM_152564.5(VPS13B):c.3727A>G (p.Arg1243Gly) rs770788256
NM_152564.5(VPS13B):c.3730G>A (p.Gly1244Ser)
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu) rs1052184770
NM_152564.5(VPS13B):c.3854T>C (p.Ile1285Thr)
NM_152564.5(VPS13B):c.3871-9T>C
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=) rs965046131
NM_152564.5(VPS13B):c.3957T>A (p.Ser1319Arg) rs1821244952
NM_152564.5(VPS13B):c.4077T>C (p.Ser1359=) rs748881375
NM_152564.5(VPS13B):c.4113G>A (p.Val1371=) rs769085208
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=) rs769085208
NM_152564.5(VPS13B):c.4123A>G (p.Ile1375Val)
NM_152564.5(VPS13B):c.4128G>A (p.Glu1376=)
NM_152564.5(VPS13B):c.4134C>T (p.Phe1378=)
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser) rs1415035849
NM_152564.5(VPS13B):c.4224+713G>T rs1648101337
NM_152564.5(VPS13B):c.4224+717T>A
NM_152564.5(VPS13B):c.4224+7C>A rs1007158742
NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly) rs2132453819
NM_152564.5(VPS13B):c.4300A>G (p.Lys1434Glu)
NM_152564.5(VPS13B):c.4381C>T (p.Pro1461Ser) rs2490521745
NM_152564.5(VPS13B):c.4429G>A (p.Val1477Ile)
NM_152564.5(VPS13B):c.4520A>T (p.Gln1507Leu)
NM_152564.5(VPS13B):c.4542G>A (p.Leu1514=) rs2490522746
NM_152564.5(VPS13B):c.4612G>A (p.Glu1538Lys)
NM_152564.5(VPS13B):c.4634-8T>C
NM_152564.5(VPS13B):c.4671G>A (p.Lys1557=) rs2490585572
NM_152564.5(VPS13B):c.4745+8del
NM_152564.5(VPS13B):c.4764A>T (p.Gly1588=)
NM_152564.5(VPS13B):c.4825A>G (p.Ile1609Val)
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4866G>A (p.Glu1622=) rs779914034
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile) rs1014154776
NM_152564.5(VPS13B):c.4875T>G (p.Ser1625Arg)
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=) rs985853073
NM_152564.5(VPS13B):c.4949+9T>C
NM_152564.5(VPS13B):c.4950-7C>G
NM_152564.5(VPS13B):c.4989C>T (p.Pro1663=) rs142380266
NM_152564.5(VPS13B):c.5065T>A (p.Leu1689Met) rs192416968
NM_152564.5(VPS13B):c.5154T>C (p.Val1718=) rs1235245438
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5211G>A (p.Lys1737=)
NM_152564.5(VPS13B):c.5214T>C (p.Ala1738=)
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.529G>T (p.Glu177Ter)
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly) rs905918713
NM_152564.5(VPS13B):c.5419C>A (p.Leu1807Ile)
NM_152564.5(VPS13B):c.5457T>C (p.Ser1819=)
NM_152564.5(VPS13B):c.545G>C (p.Gly182Ala) rs2488637500
NM_152564.5(VPS13B):c.5485A>G (p.Met1829Val)
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) rs1829392467
NM_152564.5(VPS13B):c.5502G>A (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5507C>T (p.Ser1836Leu)
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.5560G>C (p.Glu1854Gln)
NM_152564.5(VPS13B):c.5590C>A (p.Gln1864Lys)
NM_152564.5(VPS13B):c.5603C>T (p.Ser1868Phe)
NM_152564.5(VPS13B):c.5658A>T (p.Lys1886Asn)
NM_152564.5(VPS13B):c.5711C>T (p.Ala1904Val)
NM_152564.5(VPS13B):c.5768A>C (p.Asp1923Ala) rs1829404418
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val) rs751559027
NM_152564.5(VPS13B):c.5883G>A (p.Gly1961=)
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5966T>A (p.Val1989Glu)
NM_152564.5(VPS13B):c.5978T>C (p.Ile1993Thr) rs1426789840
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn) rs1563849907
NM_152564.5(VPS13B):c.6010A>G (p.Ile2004Val) rs752589749
NM_152564.5(VPS13B):c.6046+9G>A rs2129764870
NM_152564.5(VPS13B):c.6062A>T (p.Asp2021Val)
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr) rs1437722924
NM_152564.5(VPS13B):c.6144A>G (p.Ala2048=) rs940449954
NM_152564.5(VPS13B):c.6159T>C (p.His2053=)
NM_152564.5(VPS13B):c.6160A>G (p.Ser2054Gly)
NM_152564.5(VPS13B):c.6170C>A (p.Thr2057Asn)
NM_152564.5(VPS13B):c.6177C>T (p.Ala2059=)
NM_152564.5(VPS13B):c.6225T>C (p.Tyr2075=) rs2491484171
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) rs747116389
NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu) rs747116389
NM_152564.5(VPS13B):c.6275A>G (p.Lys2092Arg)
NM_152564.5(VPS13B):c.6278T>C (p.Ile2093Thr)
NM_152564.5(VPS13B):c.6336A>T (p.Gln2112His) rs780082543
NM_152564.5(VPS13B):c.6339T>C (p.Thr2113=) rs747262961
NM_152564.5(VPS13B):c.6382A>C (p.Lys2128Gln)
NM_152564.5(VPS13B):c.6432C>T (p.Val2144=)
NM_152564.5(VPS13B):c.6455G>T (p.Gly2152Val)
NM_152564.5(VPS13B):c.6456C>G (p.Gly2152=) rs141845131
NM_152564.5(VPS13B):c.6549T>G (p.Cys2183Trp)
NM_152564.5(VPS13B):c.6551G>T (p.Cys2184Phe)
NM_152564.5(VPS13B):c.6563A>G (p.Asn2188Ser) rs1399212150
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=) rs746691768
NM_152564.5(VPS13B):c.6572C>T (p.Ala2191Val)
NM_152564.5(VPS13B):c.6593G>A (p.Gly2198Glu)
NM_152564.5(VPS13B):c.6726T>C (p.Asn2242=) rs1274744211
NM_152564.5(VPS13B):c.6728A>G (p.Glu2243Gly)
NM_152564.5(VPS13B):c.6816A>G (p.Gln2272=)
NM_152564.5(VPS13B):c.6865+9C>A
NM_152564.5(VPS13B):c.6882T>G (p.Pro2294=)
NM_152564.5(VPS13B):c.6885G>C (p.Gly2295=)
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys) rs1833105159
NM_152564.5(VPS13B):c.6942G>A (p.Trp2314Ter)
NM_152564.5(VPS13B):c.6953A>C (p.Glu2318Ala)
NM_152564.5(VPS13B):c.6980T>A (p.Ile2327Lys)
NM_152564.5(VPS13B):c.7051-3dup rs2491773855
NM_152564.5(VPS13B):c.706A>G (p.Thr236Ala) rs1847346139
NM_152564.5(VPS13B):c.7090G>C (p.Val2364Leu)
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe) rs1373068816
NM_152564.5(VPS13B):c.7145A>G (p.Gln2382Arg)
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg) rs183874686
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7353C>T (p.Val2451=) rs1232917163
NM_152564.5(VPS13B):c.735A>G (p.Leu245=) rs1847349558
NM_152564.5(VPS13B):c.7364G>C (p.Cys2455Ser)
NM_152564.5(VPS13B):c.7430-13_7430-10del rs1194238958
NM_152564.5(VPS13B):c.7432G>T (p.Ala2478Ser) rs765110503
NM_152564.5(VPS13B):c.7433C>T (p.Ala2478Val)
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.762+8T>A
NM_152564.5(VPS13B):c.763-5T>C rs1847622951
NM_152564.5(VPS13B):c.7660G>A (p.Val2554Ile)
NM_152564.5(VPS13B):c.7676T>A (p.Val2559Glu)
NM_152564.5(VPS13B):c.7699G>A (p.Val2567Met)
NM_152564.5(VPS13B):c.7726C>T (p.Leu2576Phe)
NM_152564.5(VPS13B):c.7770T>C (p.Ala2590=)
NM_152564.5(VPS13B):c.7780-18G>A rs781012951
NM_152564.5(VPS13B):c.7780-22_7780-19del rs781745355
NM_152564.5(VPS13B):c.7780-25G>A
NM_152564.5(VPS13B):c.7821T>C (p.Phe2607=) rs1229910112
NM_152564.5(VPS13B):c.7830_7831insGAGCCATT (p.Asn2611fs)
NM_152564.5(VPS13B):c.7890G>A (p.Leu2630=) rs2491873833
NM_152564.5(VPS13B):c.7909del (p.Gln2637fs)
NM_152564.5(VPS13B):c.7918T>G (p.Trp2640Gly) rs2491873992
NM_152564.5(VPS13B):c.7941+4T>C
NM_152564.5(VPS13B):c.7963G>C (p.Gly2655Arg) rs1433870539
NM_152564.5(VPS13B):c.7978C>T (p.Arg2660Cys)
NM_152564.5(VPS13B):c.8056C>T (p.Leu2686Phe)
NM_152564.5(VPS13B):c.8121C>G (p.Ile2707Met) rs2492005572
NM_152564.5(VPS13B):c.8159T>C (p.Val2720Ala) rs369898130
NM_152564.5(VPS13B):c.8219T>A (p.Leu2740His)
NM_152564.5(VPS13B):c.8346C>G (p.Tyr2782Ter) rs2492006351
NM_152564.5(VPS13B):c.8361+13G>T
NM_152564.5(VPS13B):c.8361+18A>G rs1301774020
NM_152564.5(VPS13B):c.8362-4G>T
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser) rs1814174083
NM_152564.5(VPS13B):c.8444T>C (p.Met2815Thr)
NM_152564.5(VPS13B):c.8445+3G>A
NM_152564.5(VPS13B):c.8446-10_8446-6del rs773159446
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.855C>T (p.Tyr285=) rs1256482530
NM_152564.5(VPS13B):c.861A>G (p.Gly287=) rs2132497926
NM_152564.5(VPS13B):c.8621+4C>T rs1563489649
NM_152564.5(VPS13B):c.862G>A (p.Glu288Lys) rs2488689585
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT rs756641209
NM_152564.5(VPS13B):c.8795A>G (p.Asn2932Ser)
NM_152564.5(VPS13B):c.8895G>C (p.Leu2965=) rs1423890336
NM_152564.5(VPS13B):c.9042C>A (p.His3014Gln)
NM_152564.5(VPS13B):c.9057T>C (p.Ile3019=) rs1338076915
NM_152564.5(VPS13B):c.9075G>A (p.Leu3025=) rs1006898232
NM_152564.5(VPS13B):c.9101G>C (p.Gly3034Ala)
NM_152564.5(VPS13B):c.9105T>C (p.Asn3035=) rs2492020621
NM_152564.5(VPS13B):c.916G>A (p.Asp306Asn)
NM_152564.5(VPS13B):c.9170C>G (p.Pro3057Arg)
NM_152564.5(VPS13B):c.9183+6A>G rs369495448
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9228A>G (p.Gln3076=)
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly) rs1814518745
NM_152564.5(VPS13B):c.9262A>G (p.Asn3088Asp)
NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=) rs143974238
NM_152564.5(VPS13B):c.9331-11_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-12_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-12_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-13_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-14_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-15_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-16_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-18_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-19_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-20_9331-3dup rs370235149
NM_152564.5(VPS13B):c.9331-4T>G rs2130857623
NM_152564.5(VPS13B):c.9331-4_9331-2dup
NM_152564.5(VPS13B):c.9331-7_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-8_9331-3del rs370235149
NM_152564.5(VPS13B):c.9418G>A (p.Asp3140Asn) rs1452406474
NM_152564.5(VPS13B):c.9477C>A (p.Ile3159=)
NM_152564.5(VPS13B):c.9501A>G (p.Pro3167=) rs1448281466
NM_152564.5(VPS13B):c.9571G>A (p.Ala3191Thr)
NM_152564.5(VPS13B):c.9579C>T (p.Pro3193=) rs2130858423
NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=) rs1334078728
NM_152564.5(VPS13B):c.9625C>G (p.Leu3209Val)
NM_152564.5(VPS13B):c.9639A>G (p.Glu3213=)
NM_152564.5(VPS13B):c.9643C>G (p.Leu3215Val)
NM_152564.5(VPS13B):c.966G>A (p.Met322Ile)
NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=) rs1286562705
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9760G>T (p.Val3254Phe)
NM_152564.5(VPS13B):c.9783C>A (p.Ser3261=) rs147242148
NM_152564.5(VPS13B):c.9943-4G>T rs2130902382

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