ClinVar Miner

List of variants in gene VPS13B reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 452
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
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.6963A>G (p.Val2321=) rs61753724 0.07191
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
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.9943G>A (p.Val3315Ile) rs116746734 0.00699
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.8622-47C>T rs118061300 0.00567
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
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.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.11195G>A (p.Arg3732Gln) rs149318176 0.00178
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.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.1248G>T (p.Gln416His) rs143024324 0.00111
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
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.3656C>G (p.Ser1219Cys) rs149478021 0.00073
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.1768G>A (p.Ala590Thr) rs140601319 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.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
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.4452T>C (p.Asn1484=) rs148033080 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.9783C>T (p.Ser3261=) rs147242148 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.6752T>C (p.Val2251Ala) rs147576864 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.6072G>A (p.Lys2024=) rs142850229 0.00021
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=) rs575051014 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_152564.5(VPS13B):c.8280T>C (p.Cys2760=) rs145090492 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.10568A>G (p.Tyr3523Cys) rs398124326 0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 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.4746-3C>A rs199884841 0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu) rs755937467 0.00015
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.8104A>T (p.Ile2702Phe) rs774565889 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.1843+10T>C rs371154826 0.00014
NM_152564.5(VPS13B):c.4746-7T>C rs201136777 0.00014
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=) rs200635121 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 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.9035C>G (p.Thr3012Ser) rs576577339 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.4549C>T (p.Arg1517Cys) rs375652507 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys) rs143787982 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 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.7668C>T (p.Ser2556=) rs370903187 0.00011
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 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.7266T>C (p.Gly2422=) rs766519309 0.00010
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.1564-16A>T rs373961851 0.00009
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.3150A>G (p.Glu1050=) rs144920754 0.00009
NM_152564.5(VPS13B):c.4949+34T>C rs183177286 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.8059A>G (p.Ile2687Val) rs369100428 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00008
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.5631G>A (p.Arg1877=) rs937213176 0.00008
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.4622C>T (p.Pro1541Leu) rs552843068 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) rs145265055 0.00007
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His) rs141408531 0.00007
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_152564.5(VPS13B):c.11052C>G (p.Leu3684=) rs373428916 0.00006
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) rs180177372 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn) rs771105877 0.00006
NM_152564.5(VPS13B):c.1209C>T (p.Leu403=) rs756539595 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.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.611A>G (p.Asn204Ser) rs201363767 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.8727C>T (p.Asp2909=) rs201517365 0.00006
NM_152564.5(VPS13B):c.9657T>C (p.Tyr3219=) rs780634043 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.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr) rs868118584 0.00005
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=) rs149919865 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=) rs772263007 0.00005
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile) rs138577821 0.00005
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) rs141275433 0.00005
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=) rs151315104 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.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.11129G>A (p.Arg3710Gln) rs987017060 0.00004
NM_152564.5(VPS13B):c.11208C>T (p.Ser3736=) rs751880506 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.1296A>G (p.Thr432=) rs765163542 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.2438A>G (p.Gln813Arg) rs146195479 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.3082+9C>G rs529476662 0.00004
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494 0.00004
NM_152564.5(VPS13B):c.3432C>T (p.Pro1144=) rs375994361 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.4157+5A>G rs201027029 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.4950-9A>G rs373474658 0.00004
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu) rs965365158 0.00004
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) rs763703607 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.5636G>A (p.Ser1879Asn) rs760882381 0.00004
NM_152564.5(VPS13B):c.6047-10A>G rs761450531 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val) rs761504023 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 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.9593G>A (p.Arg3198Gln) rs544366805 0.00004
NM_152564.5(VPS13B):c.9745A>G (p.Ile3249Val) rs1314210823 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.9993G>A (p.Gln3331=) rs201746251 0.00004
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.10725C>T (p.His3575=) rs757408143 0.00003
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.11523A>T (p.Pro3841=) rs755978513 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.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_152564.5(VPS13B):c.3666+6T>C rs374468508 0.00003
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) rs200229383 0.00003
NM_152564.5(VPS13B):c.450T>C (p.Asn150=) rs746257136 0.00003
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln) rs754267693 0.00003
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=) rs1196457576 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 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.7853G>A (p.Arg2618Gln) rs569563358 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.8710G>A (p.Val2904Ile) rs750349908 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 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_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr) rs144187978 0.00002
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser) rs142411465 0.00002
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) rs748727467 0.00002
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) rs560723051 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 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.5120C>T (p.Thr1707Ile) rs1430604594 0.00002
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys) rs751912986 0.00002
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val) rs534890892 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 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.857A>G (p.Tyr286Cys) rs753075331 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.9742+10A>G rs755760611 0.00002
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 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.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr) rs1816408668 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 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.10682G>A (p.Arg3561Gln) rs549125520 0.00001
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00001
NM_152564.5(VPS13B):c.10926C>A (p.Ile3642=) rs753373848 0.00001
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=) rs773394643 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.11059A>G (p.Ile3687Val) rs1045389239 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.1118C>T (p.Ser373Leu) rs773391550 0.00001
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) rs752506829 0.00001
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00001
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile) rs765012695 0.00001
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00001
NM_152564.5(VPS13B):c.11904C>T (p.Tyr3968=) rs1817662607 0.00001
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly) rs1372588907 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.19A>T (p.Thr7Ser) rs1413120643 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.2880A>G (p.Leu960=) rs760792770 0.00001
NM_152564.5(VPS13B):c.3553C>T (p.Leu1185=) rs761707088 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.4224+707C>G rs1821585422 0.00001
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile) rs1457753544 0.00001
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr) rs142708735 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.5088G>A (p.Val1696=) rs1201956279 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 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.5677C>T (p.Leu1893Phe) rs758410065 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.6047C>T (p.Ala2016Val) rs199837195 0.00001
NM_152564.5(VPS13B):c.6258T>C (p.His2086=) rs1472821351 0.00001
NM_152564.5(VPS13B):c.6437C>T (p.Ala2146Val) rs967172609 0.00001
NM_152564.5(VPS13B):c.6453T>G (p.Pro2151=) rs536727985 0.00001
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=) rs141845131 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.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu) rs754410472 0.00001
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln) rs752014773 0.00001
NM_152564.5(VPS13B):c.763-10C>T rs375512611 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.8045G>A (p.Arg2682Gln) rs941818698 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 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.8661A>G (p.Ser2887=) rs199552885 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.8825T>C (p.Met2942Thr) rs1305759367 0.00001
NM_152564.5(VPS13B):c.927A>C (p.Gly309=) rs1252576777 0.00001
NM_152564.5(VPS13B):c.938-7T>C rs200067547 0.00001
NM_152564.5(VPS13B):c.943G>A (p.Glu315Lys) rs1035761875 0.00001
NM_152564.5(VPS13B):c.9541G>A (p.Val3181Ile) rs904676214 0.00001
NC_000008.11:g.100471152C>T
NC_000008.11:g.100471156A>G
NC_000008.11:g.100471416C>T
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10479T>C (p.Asp3493=)
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) rs781420614
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.10616dup (p.Gly3539_Lys3540insTer)
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu)
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly)
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys)
NM_152564.5(VPS13B):c.10867+37G>A
NM_152564.5(VPS13B):c.10878T>C (p.Val3626=) rs1334951450
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=)
NM_152564.5(VPS13B):c.1114G>C (p.Ala372Pro)
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu) rs752395430
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.11664A>G (p.Glu3888=)
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu)
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys)
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu)
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.1206+24A>T
NM_152564.5(VPS13B):c.1206+34C>G
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala)
NM_152564.5(VPS13B):c.1293T>A (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1302+6C>G
NM_152564.5(VPS13B):c.1491A>C (p.Ser497=) rs374276141
NM_152564.5(VPS13B):c.1492T>C (p.Leu498=)
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=) rs778708757
NM_152564.5(VPS13B):c.1554T>C (p.Thr518=)
NM_152564.5(VPS13B):c.1651+5del rs779435450
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu)
NM_152564.5(VPS13B):c.1844A>G (p.Asp615Gly)
NM_152564.5(VPS13B):c.18A>T (p.Val6=)
NM_152564.5(VPS13B):c.193T>C (p.Leu65=) rs2132222030
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg) rs372585253
NM_152564.5(VPS13B):c.2274A>G (p.Pro758=)
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu)
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=)
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val)
NM_152564.5(VPS13B):c.2515+16522_2515+16525del
NM_152564.5(VPS13B):c.2515+16524_2515+16525del
NM_152564.5(VPS13B):c.2515+16591C>G
NM_152564.5(VPS13B):c.2515+16595C>T
NM_152564.5(VPS13B):c.2515+16617C>T
NM_152564.5(VPS13B):c.2516-3T>A rs377723973
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.3073A>C (p.Thr1025Pro)
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met)
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val)
NM_152564.5(VPS13B):c.3124A>G (p.Ile1042Val)
NM_152564.5(VPS13B):c.3211C>T (p.Leu1071Phe)
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=)
NM_152564.5(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_152564.5(VPS13B):c.3591T>A (p.Pro1197=)
NM_152564.5(VPS13B):c.3727A>G (p.Arg1243Gly)
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=)
NM_152564.5(VPS13B):c.4062A>C (p.Glu1354Asp)
NM_152564.5(VPS13B):c.4121A>C (p.Lys1374Thr)
NM_152564.5(VPS13B):c.4224+7C>A
NM_152564.5(VPS13B):c.4362A>G (p.Glu1454=) rs775013418
NM_152564.5(VPS13B):c.4542G>A (p.Leu1514=)
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His)
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4949+6_4949+19del
NM_152564.5(VPS13B):c.4950-29G>A
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp)
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=)
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.545G>C (p.Gly182Ala)
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.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln)
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn)
NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu) rs747116389
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys) rs1833105159
NM_152564.5(VPS13B):c.7377G>C (p.Gln2459His)
NM_152564.5(VPS13B):c.7432G>T (p.Ala2478Ser)
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.7578A>T (p.Gln2526His)
NM_152564.5(VPS13B):c.7622G>T (p.Ser2541Ile)
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His)
NM_152564.5(VPS13B):c.7780-18G>A rs781012951
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp)
NM_152564.5(VPS13B):c.7918T>G (p.Trp2640Gly)
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu)
NM_152564.5(VPS13B):c.8148A>G (p.Ile2716Met)
NM_152564.5(VPS13B):c.8346C>G (p.Tyr2782Ter)
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser)
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8474G>A (p.Arg2825Lys)
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser)
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.8964T>C (p.Ala2988=)
NM_152564.5(VPS13B):c.9161G>T (p.Gly3054Val)
NM_152564.5(VPS13B):c.9331-11_9331-3dup
NM_152564.5(VPS13B):c.9331-12_9331-3dup
NM_152564.5(VPS13B):c.9331-13_9331-3dup
NM_152564.5(VPS13B):c.9331-14_9331-3del
NM_152564.5(VPS13B):c.9331-15_9331-3dup
NM_152564.5(VPS13B):c.9331-16_9331-3dup
NM_152564.5(VPS13B):c.9331-18_9331-3dup
NM_152564.5(VPS13B):c.9331-19_9331-3dup
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-20_9331-3dup
NM_152564.5(VPS13B):c.9331-7_9331-3del
NM_152564.5(VPS13B):c.9331-8_9331-3del
NM_152564.5(VPS13B):c.9418G>A (p.Asp3140Asn)
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala)
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9943-4G>T rs2130902382

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