ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1977
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.*61G>A rs189939258 0.00218
NM_152564.5(VPS13B):c.*1355T>G rs562826355 0.00204
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.3116T>C (p.Met1039Thr) rs140015545 0.00144
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.*202T>A rs201566966 0.00108
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
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.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.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.*743T>G rs144603951 0.00038
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00036
NM_152564.5(VPS13B):c.10867+11A>G rs376656751 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.4452T>C (p.Asn1484=) rs148033080 0.00030
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.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
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.2124T>C (p.Ala708=) rs201650333 0.00023
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_152564.5(VPS13B):c.*1345C>T rs778566330 0.00021
NM_152564.5(VPS13B):c.*745C>G rs138761680 0.00021
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.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.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.3083-9C>T rs376659281 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 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.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.2333+12A>T rs373498932 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 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.934A>G (p.Thr312Ala) rs780702951 0.00014
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.5612C>A (p.Thr1871Lys) rs920484397 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.2880A>T (p.Leu960Phe) rs760792770 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.4829A>G (p.Asn1610Ser) rs201587931 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.3088C>T (p.Arg1030Cys) rs374072699 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 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.10868-7G>A rs376141593 0.00009
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.1762A>G (p.Ser588Gly) rs759332797 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.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.347C>G (p.Thr116Arg) rs762421764 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.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.11542G>C (p.Asp3848His) rs558917637 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.3766A>G (p.Met1256Val) rs570925076 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.8177G>A (p.Gly2726Asp) rs376283724 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.*304C>T rs913240465 0.00006
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His) rs150464408 0.00006
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216 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.11447G>A (p.Ser3816Asn) rs1419202718 0.00006
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn) rs771105877 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 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.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.7623T>A (p.Ser2541Arg) rs754632431 0.00006
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00006
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr) rs189689493 0.00006
NM_152564.5(VPS13B):c.9830C>T (p.Pro3277Leu) rs141138612 0.00006
NM_152564.5(VPS13B):c.*705T>C rs886062554 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.1652-9T>A rs375615155 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.3379G>T (p.Gly1127Trp) rs117357319 0.00005
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile) rs138577821 0.00005
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) rs763052877 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) rs141275433 0.00005
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser) rs764775015 0.00005
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) rs183874686 0.00005
NM_152564.5(VPS13B):c.7718T>C (p.Phe2573Ser) rs199528303 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.*1540T>C rs148026916 0.00004
NM_152564.5(VPS13B):c.10714G>A (p.Val3572Ile) rs369258469 0.00004
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) rs149659649 0.00004
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=) rs773474909 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.11616G>A (p.Val3872=) rs760377055 0.00004
NM_152564.5(VPS13B):c.1168A>G (p.Ile390Val) rs563261178 0.00004
NM_152564.5(VPS13B):c.1365G>A (p.Met455Ile) rs1187769339 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.1520A>G (p.Asn507Ser) rs749312835 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.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2137C>T (p.His713Tyr) rs796181999 0.00004
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) rs199574731 0.00004
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly) rs112858205 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.2673G>T (p.Leu891Phe) rs770484465 0.00004
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=) rs199881514 0.00004
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser) rs370336663 0.00004
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494 0.00004
NM_152564.5(VPS13B):c.3535A>G (p.Met1179Val) rs764040349 0.00004
NM_152564.5(VPS13B):c.3584C>T (p.Thr1195Met) rs778388170 0.00004
NM_152564.5(VPS13B):c.3955A>G (p.Ser1319Gly) rs374363141 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.4796A>G (p.Asp1599Gly) rs1288339042 0.00004
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu) rs965365158 0.00004
NM_152564.5(VPS13B):c.5077-13G>A rs376055963 0.00004
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile) rs529286193 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.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_152564.5(VPS13B):c.5636G>A (p.Ser1879Asn) rs760882381 0.00004
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 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.6832C>T (p.Arg2278Trp) rs781460252 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.7291G>A (p.Val2431Met) rs138405323 0.00004
NM_152564.5(VPS13B):c.7429+4C>A rs757079639 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.9568G>C (p.Val3190Leu) rs775768806 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.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152564.5(VPS13B):c.*140G>A rs535987441 0.00003
NM_152564.5(VPS13B):c.*637C>G rs565441903 0.00003
NM_152564.5(VPS13B):c.10082C>A (p.Thr3361Lys) rs1219748926 0.00003
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) rs781253026 0.00003
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) rs750693109 0.00003
NM_152564.5(VPS13B):c.11021C>T (p.Ser3674Leu) rs771376605 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 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.1121C>T (p.Thr374Ile) rs753781360 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.1888G>A (p.Ala630Thr) rs768721417 0.00003
NM_152564.5(VPS13B):c.1904A>G (p.Tyr635Cys) rs761692416 0.00003
NM_152564.5(VPS13B):c.2628A>G (p.Ile876Met) rs1198845715 0.00003
NM_152564.5(VPS13B):c.2687A>G (p.Gln896Arg) rs1269673113 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_152564.5(VPS13B):c.2935-4C>T rs207469601 0.00003
NM_152564.5(VPS13B):c.3089G>A (p.Arg1030His) rs182764947 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.3568C>A (p.Gln1190Lys) rs1819175134 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.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln) rs754267693 0.00003
NM_152564.5(VPS13B):c.5012G>A (p.Arg1671Gln) rs565360322 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.5660A>C (p.Lys1887Thr) rs757219665 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 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.6539T>C (p.Ile2180Thr) rs1037803923 0.00003
NM_152564.5(VPS13B):c.6652C>A (p.Leu2218Ile) rs559107679 0.00003
NM_152564.5(VPS13B):c.7156A>G (p.Ile2386Val) rs370689956 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.8087T>C (p.Val2696Ala) rs755015601 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.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.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_152564.5(VPS13B):c.9850T>G (p.Leu3284Val) rs761596624 0.00003
NM_017890.5(VPS13B):c.4198G>A (p.Val1400Ile) rs374008116 0.00002
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr) rs144187978 0.00002
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr) rs377394274 0.00002
NM_152564.5(VPS13B):c.10169C>T (p.Thr3390Ile) rs767783667 0.00002
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser) rs142411465 0.00002
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile) rs367609176 0.00002
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) rs745866775 0.00002
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) rs748727467 0.00002
NM_152564.5(VPS13B):c.10958C>T (p.Pro3653Leu) rs749689354 0.00002
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) rs560723051 0.00002
NM_152564.5(VPS13B):c.11218G>A (p.Ala3740Thr) rs749392832 0.00002
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) rs549702100 0.00002
NM_152564.5(VPS13B):c.11691G>C (p.Gln3897His) rs371985144 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.1357A>G (p.Arg453Gly) rs767057004 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.1531G>A (p.Ala511Thr) rs368241718 0.00002
NM_152564.5(VPS13B):c.1735A>G (p.Ile579Val) rs750419805 0.00002
NM_152564.5(VPS13B):c.1865C>T (p.Thr622Ile) rs147043610 0.00002
NM_152564.5(VPS13B):c.203A>G (p.His68Arg) rs368511311 0.00002
NM_152564.5(VPS13B):c.2243A>G (p.Asp748Gly) rs145988999 0.00002
NM_152564.5(VPS13B):c.2272C>G (p.Pro758Ala) rs1483935385 0.00002
NM_152564.5(VPS13B):c.2334-3C>T rs749105779 0.00002
NM_152564.5(VPS13B):c.2419C>G (p.Leu807Val) rs780214074 0.00002
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) rs199868590 0.00002
NM_152564.5(VPS13B):c.2667G>T (p.Glu889Asp) rs369849286 0.00002
NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile) rs745742179 0.00002
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu) rs576973103 0.00002
NM_152564.5(VPS13B):c.3385A>G (p.Lys1129Glu) rs371315874 0.00002
NM_152564.5(VPS13B):c.3533C>G (p.Pro1178Arg) rs1391680745 0.00002
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val) rs1343599639 0.00002
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly) rs1289522615 0.00002
NM_152564.5(VPS13B):c.3799A>C (p.Ser1267Arg) rs749167191 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.3826A>G (p.Thr1276Ala) rs746514520 0.00002
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala) rs752808333 0.00002
NM_152564.5(VPS13B):c.4045G>T (p.Val1349Phe) rs780981868 0.00002
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) rs200774003 0.00002
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=) rs765924507 0.00002
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) rs138148013 0.00002
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln) rs751699219 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.5395C>T (p.Arg1799Cys) rs751912986 0.00002
NM_152564.5(VPS13B):c.5781G>T (p.Glu1927Asp) rs1479745735 0.00002
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val) rs534890892 0.00002
NM_152564.5(VPS13B):c.6229C>T (p.Arg2077Cys) rs780180063 0.00002
NM_152564.5(VPS13B):c.6260G>A (p.Gly2087Asp) rs1184175662 0.00002
NM_152564.5(VPS13B):c.6719A>T (p.Tyr2240Phe) rs762982977 0.00002
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=) rs760171272 0.00002
NM_152564.5(VPS13B):c.7243C>A (p.Gln2415Lys) rs755052081 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr) rs369062407 0.00002
NM_152564.5(VPS13B):c.7645T>C (p.Phe2549Leu) rs377498258 0.00002
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) rs398124338 0.00002
NM_152564.5(VPS13B):c.8011G>A (p.Gly2671Arg) rs568716604 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.825T>G (p.Ile275Met) rs769413380 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.8645G>T (p.Cys2882Phe) rs954722328 0.00002
NM_152564.5(VPS13B):c.865A>G (p.Ile289Val) rs943316620 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.9391A>G (p.Met3131Val) rs1241294111 0.00002
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup) rs747778859 0.00002
NM_152564.5(VPS13B):c.9400A>G (p.Ser3134Gly) rs138889735 0.00002
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=) rs189680814 0.00002
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00002
NM_152564.5(VPS13B):c.9742+2dup rs770968105 0.00002
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr) rs749573516 0.00002
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=) rs1397608904 0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr) rs139575184 0.00002
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4195G>A (p.Gly1399Ser) rs776321717 0.00001
NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His) rs1821581494 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_152564.5(VPS13B):c.*1037C>A rs1246944981 0.00001
NM_152564.5(VPS13B):c.*1239C>T rs1817725052 0.00001
NM_152564.5(VPS13B):c.*438C>T rs1412435648 0.00001
NM_152564.5(VPS13B):c.*665T>C rs1326591170 0.00001
NM_152564.5(VPS13B):c.10042A>G (p.Ile3348Val) rs777046028 0.00001
NM_152564.5(VPS13B):c.10064C>T (p.Ala3355Val) rs199931583 0.00001
NM_152564.5(VPS13B):c.10076T>C (p.Ile3359Thr) rs1036301212 0.00001
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn) rs759636784 0.00001
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg) rs377348581 0.00001
NM_152564.5(VPS13B):c.10115C>T (p.Ala3372Val) rs753591072 0.00001
NM_152564.5(VPS13B):c.10132A>T (p.Thr3378Ser) rs770379709 0.00001
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.10255T>C (p.Cys3419Arg) rs188030143 0.00001
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr) rs1816408668 0.00001
NM_152564.5(VPS13B):c.10382G>C (p.Ser3461Thr) rs1816412271 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.10442G>T (p.Cys3481Phe) rs1563509900 0.00001
NM_152564.5(VPS13B):c.10444A>G (p.Ile3482Val) rs1196019519 0.00001
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) rs398124325 0.00001
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His) rs773013716 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.10540T>C (p.Tyr3514His) rs1440017130 0.00001
NM_152564.5(VPS13B):c.1066A>G (p.Ile356Val) rs1020906206 0.00001
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp) rs200232124 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.10703T>C (p.Val3568Ala) rs376964635 0.00001
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe) rs753058180 0.00001
NM_152564.5(VPS13B):c.10722C>G (p.Ile3574Met) rs1303747895 0.00001
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=) rs547516730 0.00001
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) rs1225418115 0.00001
NM_152564.5(VPS13B):c.10825G>A (p.Ala3609Thr) rs769606496 0.00001
NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr) rs373605057 0.00001
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00001
NM_152564.5(VPS13B):c.10924A>G (p.Ile3642Val) rs148582416 0.00001
NM_152564.5(VPS13B):c.10927G>A (p.Gly3643Arg) rs778657622 0.00001
NM_152564.5(VPS13B):c.10933G>A (p.Gly3645Arg) rs61754108 0.00001
NM_152564.5(VPS13B):c.10976G>A (p.Arg3659Gln) rs370507425 0.00001
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser) rs373947421 0.00001
NM_152564.5(VPS13B):c.1097T>C (p.Phe366Ser) rs543010361 0.00001
NM_152564.5(VPS13B):c.11002G>A (p.Val3668Ile) rs746534351 0.00001
NM_152564.5(VPS13B):c.11030A>C (p.Lys3677Thr) rs772287232 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.11070C>T (p.Leu3690=) rs185477101 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His) rs748531719 0.00001
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp) rs772640414 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.1118C>T (p.Ser373Leu) rs773391550 0.00001
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met) rs1318142770 0.00001
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=) rs766658666 0.00001
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met) rs1359351082 0.00001
NM_152564.5(VPS13B):c.11215+8G>T rs1285906381 0.00001
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met) rs267601674 0.00001
NM_152564.5(VPS13B):c.1127A>G (p.His376Arg) rs1209759817 0.00001
NM_152564.5(VPS13B):c.11305G>A (p.Val3769Ile) rs1375551293 0.00001
NM_152564.5(VPS13B):c.11317G>A (p.Val3773Met) rs145970185 0.00001
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=) rs1847925535 0.00001
NM_152564.5(VPS13B):c.11381A>G (p.Gln3794Arg) rs1172665875 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.11489A>G (p.Tyr3830Cys) rs1354835040 0.00001
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) rs752506829 0.00001
NM_152564.5(VPS13B):c.114C>T (p.Ser38=) rs768496696 0.00001
NM_152564.5(VPS13B):c.11545G>A (p.Val3849Met) rs781773703 0.00001
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile) rs765012695 0.00001
NM_152564.5(VPS13B):c.11653C>T (p.Pro3885Ser) rs1272962312 0.00001
NM_152564.5(VPS13B):c.11690A>G (p.Gln3897Arg) rs745928856 0.00001
NM_152564.5(VPS13B):c.11732C>T (p.Ala3911Val) rs978197543 0.00001
NM_152564.5(VPS13B):c.11745+4C>T rs751045565 0.00001
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro) rs902783600 0.00001
NM_152564.5(VPS13B):c.1206+6T>A rs778709502 0.00001
NM_152564.5(VPS13B):c.1206A>G (p.Lys402=) rs1847928125 0.00001
NM_152564.5(VPS13B):c.1221A>C (p.Gln407His) rs1269344604 0.00001
NM_152564.5(VPS13B):c.1302+2dup rs766708621 0.00001
NM_152564.5(VPS13B):c.1382T>C (p.Met461Thr) rs754324907 0.00001
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr) rs1431957435 0.00001
NM_152564.5(VPS13B):c.1429G>T (p.Ala477Ser) rs1272904056 0.00001
NM_152564.5(VPS13B):c.147+3A>G rs772550162 0.00001
NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala) rs1432079296 0.00001
NM_152564.5(VPS13B):c.1553C>T (p.Thr518Ile) rs751932917 0.00001
NM_152564.5(VPS13B):c.1564-3C>T rs753911390 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.1603G>A (p.Ala535Thr) rs1350243430 0.00001
NM_152564.5(VPS13B):c.1612A>G (p.Met538Val) rs1478296228 0.00001
NM_152564.5(VPS13B):c.1615G>A (p.Asp539Asn) rs774992590 0.00001
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly) rs1372588907 0.00001
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536 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.1771G>A (p.Val591Met) rs372593334 0.00001
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala) rs753616467 0.00001
NM_152564.5(VPS13B):c.1907T>G (p.Ile636Ser) rs1209495278 0.00001
NM_152564.5(VPS13B):c.1921A>G (p.Thr641Ala) rs891182271 0.00001
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly) rs1294611505 0.00001
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537 0.00001
NM_152564.5(VPS13B):c.1956T>G (p.Ile652Met) rs904064642 0.00001
NM_152564.5(VPS13B):c.1960A>G (p.Met654Val) rs1408089043 0.00001
NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser) rs1413120643 0.00001
NM_152564.5(VPS13B):c.2077A>C (p.Ile693Leu) rs1228929542 0.00001
NM_152564.5(VPS13B):c.207A>T (p.Val69=) rs772922484 0.00001
NM_152564.5(VPS13B):c.2116A>G (p.Met706Val) rs751897986 0.00001
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg) rs1436936380 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.2333+5G>A rs369096824 0.00001
NM_152564.5(VPS13B):c.2348A>G (p.Gln783Arg) rs765133430 0.00001
NM_152564.5(VPS13B):c.2434T>C (p.Tyr812His) rs1258984174 0.00001
NM_152564.5(VPS13B):c.2445G>T (p.Trp815Cys) rs1452649119 0.00001
NM_152564.5(VPS13B):c.2464A>C (p.Ser822Arg) rs1208376209 0.00001
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00001
NM_152564.5(VPS13B):c.2552G>A (p.Gly851Asp) rs1251819735 0.00001
NM_152564.5(VPS13B):c.2561A>G (p.Gln854Arg) rs936610679 0.00001
NM_152564.5(VPS13B):c.2605G>A (p.Ala869Thr) rs371800257 0.00001
NM_152564.5(VPS13B):c.2618T>C (p.Met873Thr) rs112259211 0.00001
NM_152564.5(VPS13B):c.2626A>G (p.Ile876Val) rs772082436 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818 0.00001
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu) rs1378379268 0.00001
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val) rs1222718209 0.00001
NM_152564.5(VPS13B):c.2788C>A (p.Gln930Lys) rs372949456 0.00001
NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu) rs773412105 0.00001
NM_152564.5(VPS13B):c.2817C>A (p.His939Gln) rs773717018 0.00001
NM_152564.5(VPS13B):c.2843G>C (p.Ser948Thr) rs749988222 0.00001
NM_152564.5(VPS13B):c.2879T>C (p.Leu960Ser) rs775378782 0.00001
NM_152564.5(VPS13B):c.2881T>C (p.Tyr961His) rs1563700103 0.00001
NM_152564.5(VPS13B):c.2897A>G (p.Tyr966Cys) rs779809192 0.00001
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332 0.00001
NM_152564.5(VPS13B):c.2912G>A (p.Arg971Gln) rs778413172 0.00001
NM_152564.5(VPS13B):c.2921G>C (p.Arg974Thr) rs763519651 0.00001
NM_152564.5(VPS13B):c.2924A>G (p.His975Arg) rs376049764 0.00001
NM_152564.5(VPS13B):c.2934G>A (p.Gln978=) rs772161131 0.00001
NM_152564.5(VPS13B):c.2956C>T (p.Leu986Phe) rs1262733224 0.00001
NM_152564.5(VPS13B):c.2995T>C (p.Ser999Pro) rs1429325415 0.00001
NM_152564.5(VPS13B):c.3000T>G (p.Ile1000Met) rs1465563233 0.00001
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His) rs771021187 0.00001
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val) rs1169113054 0.00001
NM_152564.5(VPS13B):c.3211-16T>A rs1439444815 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.3305G>A (p.Ser1102Asn) rs778498211 0.00001
NM_152564.5(VPS13B):c.3310T>A (p.Tyr1104Asn) rs1251521388 0.00001
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu) rs1463093451 0.00001
NM_152564.5(VPS13B):c.3391A>G (p.Met1131Val) rs769263049 0.00001
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met) rs758040462 0.00001
NM_152564.5(VPS13B):c.3470G>T (p.Ser1157Ile) rs748600714 0.00001
NM_152564.5(VPS13B):c.3494C>A (p.Thr1165Asn) rs777953652 0.00001
NM_152564.5(VPS13B):c.3503G>A (p.Gly1168Glu) rs1819169224 0.00001
NM_152564.5(VPS13B):c.3583A>G (p.Thr1195Ala) rs1027684992 0.00001
NM_152564.5(VPS13B):c.359T>A (p.Ile120Asn) rs763259028 0.00001
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) rs1279523650 0.00001
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) rs757707584 0.00001
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile) rs1820042425 0.00001
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278 0.00001
NM_152564.5(VPS13B):c.3755C>T (p.Ser1252Phe) rs763456297 0.00001
NM_152564.5(VPS13B):c.3762G>C (p.Glu1254Asp) rs751944327 0.00001
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro) rs1437011084 0.00001
NM_152564.5(VPS13B):c.3805A>G (p.Ile1269Val) rs778799166 0.00001
NM_152564.5(VPS13B):c.3836G>A (p.Cys1279Tyr) rs747109984 0.00001
NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn) rs1441125749 0.00001
NM_152564.5(VPS13B):c.3853A>G (p.Ile1285Val) rs759888573 0.00001
NM_152564.5(VPS13B):c.3870+5G>A rs1183330877 0.00001
NM_152564.5(VPS13B):c.3889G>A (p.Gly1297Ser) rs762049347 0.00001
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser) rs1326406012 0.00001
NM_152564.5(VPS13B):c.4051A>T (p.Met1351Leu) rs1821315813 0.00001
NM_152564.5(VPS13B):c.4058G>A (p.Ser1353Asn) rs1160697460 0.00001
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) rs757950339 0.00001
NM_152564.5(VPS13B):c.4132T>G (p.Phe1378Val) rs773134117 0.00001
NM_152564.5(VPS13B):c.416A>T (p.Tyr139Phe) rs1226944454 0.00001
NM_152564.5(VPS13B):c.4224+684T>G rs779176548 0.00001
NM_152564.5(VPS13B):c.4224+707C>G rs1821585422 0.00001
NM_152564.5(VPS13B):c.4231A>G (p.Thr1411Ala) rs1462190245 0.00001
NM_152564.5(VPS13B):c.4270C>T (p.Leu1424Phe) rs1821771268 0.00001
NM_152564.5(VPS13B):c.4286C>A (p.Thr1429Lys) rs1232811849 0.00001
NM_152564.5(VPS13B):c.4310G>A (p.Arg1437His) rs750810791 0.00001
NM_152564.5(VPS13B):c.4349A>G (p.His1450Arg) rs773937982 0.00001
NM_152564.5(VPS13B):c.4357T>C (p.Ser1453Pro) rs771420728 0.00001
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe) rs763285164 0.00001
NM_152564.5(VPS13B):c.4416A>T (p.Gln1472His) rs1821776501 0.00001
NM_152564.5(VPS13B):c.4424A>G (p.Asp1475Gly) rs751663330 0.00001
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile) rs1457753544 0.00001
NM_152564.5(VPS13B):c.4456A>G (p.Ile1486Val) rs370519991 0.00001
NM_152564.5(VPS13B):c.4517G>A (p.Gly1506Asp) rs140797231 0.00001
NM_152564.5(VPS13B):c.4582G>C (p.Val1528Leu) rs757253779 0.00001
NM_152564.5(VPS13B):c.4589G>A (p.Arg1530Lys) rs1234827991 0.00001
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr) rs750053756 0.00001
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn) rs138417551 0.00001
NM_152564.5(VPS13B):c.4711C>T (p.Leu1571Phe) rs1481675275 0.00001
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr) rs142708735 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.4792G>A (p.Glu1598Lys) rs1169963451 0.00001
NM_152564.5(VPS13B):c.4812A>G (p.Ile1604Met) rs1824574633 0.00001
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu) rs1002672196 0.00001
NM_152564.5(VPS13B):c.4870G>C (p.Glu1624Gln) rs1257281144 0.00001
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu) rs1824580005 0.00001
NM_152564.5(VPS13B):c.4889T>C (p.Val1630Ala) rs769608908 0.00001
NM_152564.5(VPS13B):c.498T>G (p.Asp166Glu) rs776596431 0.00001
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) rs770669224 0.00001
NM_152564.5(VPS13B):c.5017A>G (p.Thr1673Ala) rs1224933519 0.00001
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr) rs200878381 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val) rs187596259 0.00001
NM_152564.5(VPS13B):c.5156A>G (p.Gln1719Arg) rs772461225 0.00001
NM_152564.5(VPS13B):c.5206A>G (p.Asn1736Asp) rs976129659 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5221-5T>C rs761788793 0.00001
NM_152564.5(VPS13B):c.5248G>A (p.Asp1750Asn) rs1241714095 0.00001
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly) rs767031340 0.00001
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val) rs757833793 0.00001
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr) rs146540735 0.00001
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys) rs760207080 0.00001
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His) rs891967669 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 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.5701A>G (p.Arg1901Gly) rs1176179128 0.00001
NM_152564.5(VPS13B):c.5720C>T (p.Ala1907Val) rs913328995 0.00001
NM_152564.5(VPS13B):c.5731A>G (p.Thr1911Ala) rs946197995 0.00001
NM_152564.5(VPS13B):c.5774A>T (p.Gln1925Leu) rs541081770 0.00001
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=) rs765209957 0.00001
NM_152564.5(VPS13B):c.5818C>G (p.Leu1940Val) rs781154165 0.00001
NM_152564.5(VPS13B):c.5840A>G (p.Lys1947Arg) rs777142337 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.585T>A (p.Thr195=) rs773972779 0.00001
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg) rs1422533086 0.00001
NM_152564.5(VPS13B):c.5950G>A (p.Val1984Ile) rs1303328130 0.00001
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr) rs1563849907 0.00001
NM_152564.5(VPS13B):c.6022A>T (p.Ile2008Phe) rs753483216 0.00001
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val) rs199837195 0.00001
NM_152564.5(VPS13B):c.6073C>G (p.Pro2025Ala) rs779210102 0.00001
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val) rs200711677 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.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.6274A>C (p.Lys2092Gln) rs1422079821 0.00001
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile) rs766003681 0.00001
NM_152564.5(VPS13B):c.6335A>G (p.Gln2112Arg) rs1212416417 0.00001
NM_152564.5(VPS13B):c.6358A>G (p.Met2120Val) rs748059850 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.6453T>G (p.Pro2151=) rs536727985 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.6527G>A (p.Ser2176Asn) rs767664311 0.00001
NM_152564.5(VPS13B):c.6544C>A (p.Pro2182Thr) rs778567402 0.00001
NM_152564.5(VPS13B):c.6556A>G (p.Thr2186Ala) rs532297738 0.00001
NM_152564.5(VPS13B):c.6574A>G (p.Lys2192Glu) rs1357919606 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.6602G>T (p.Gly2201Val) rs149727474 0.00001
NM_152564.5(VPS13B):c.6609A>C (p.Glu2203Asp) rs1421107785 0.00001
NM_152564.5(VPS13B):c.6658-3A>T rs994417111 0.00001
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr) rs747340772 0.00001
NM_152564.5(VPS13B):c.6698T>C (p.Leu2233Pro) rs776873589 0.00001
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe) rs1001219779 0.00001
NM_152564.5(VPS13B):c.6808A>T (p.Ser2270Cys) rs1445900590 0.00001
NM_152564.5(VPS13B):c.6823G>C (p.Asp2275His) rs1833091516 0.00001
NM_152564.5(VPS13B):c.6866-14C>A rs1277958075 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7012C>T (p.Pro2338Ser) rs1833108064 0.00001
NM_152564.5(VPS13B):c.7025C>T (p.Thr2342Ile) rs1833108203 0.00001
NM_152564.5(VPS13B):c.704G>T (p.Arg235Ile) rs1459648775 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg) rs778935189 0.00001
NM_152564.5(VPS13B):c.7099G>T (p.Ala2367Ser) rs1001142449 0.00001
NM_152564.5(VPS13B):c.710G>A (p.Arg237His) rs751804274 0.00001
NM_152564.5(VPS13B):c.7128C>A (p.Ser2376Arg) rs1811252908 0.00001
NM_152564.5(VPS13B):c.7165G>A (p.Val2389Met) rs764630440 0.00001
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu) rs754410472 0.00001
NM_152564.5(VPS13B):c.7199T>C (p.Leu2400Pro) rs1289418559 0.00001
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val) rs765664729 0.00001
NM_152564.5(VPS13B):c.7230T>A (p.Asn2410Lys) rs758694590 0.00001
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys) rs1016168403 0.00001
NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile) rs1811763988 0.00001
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg) rs1053258649 0.00001
NM_152564.5(VPS13B):c.7358C>T (p.Ser2453Phe) rs1811766011 0.00001
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln) rs752014773 0.00001
NM_152564.5(VPS13B):c.7454T>C (p.Phe2485Ser) rs779696637 0.00001
NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr) rs779401089 0.00001
NM_152564.5(VPS13B):c.7492A>G (p.Met2498Val) rs772347065 0.00001
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val) rs1467331063 0.00001
NM_152564.5(VPS13B):c.763-7A>G rs972645639 0.00001
NM_152564.5(VPS13B):c.7654A>T (p.Met2552Leu) rs747240552 0.00001
NM_152564.5(VPS13B):c.7663T>G (p.Ser2555Ala) rs887354798 0.00001
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val) rs1451188144 0.00001
NM_152564.5(VPS13B):c.7688T>G (p.Leu2563Arg) rs759385151 0.00001
NM_152564.5(VPS13B):c.7692C>G (p.Asp2564Glu) rs767022008 0.00001
NM_152564.5(VPS13B):c.7705G>A (p.Val2569Ile) rs780461877 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile) rs549157416 0.00001
NM_152564.5(VPS13B):c.773T>C (p.Leu258Ser) rs1026827853 0.00001
NM_152564.5(VPS13B):c.7792G>A (p.Glu2598Lys) rs202238616 0.00001
NM_152564.5(VPS13B):c.7912T>C (p.Tyr2638His) rs761563766 0.00001
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg) rs760112876 0.00001
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val) rs533426135 0.00001
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=) rs758430817 0.00001
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val) rs752505325 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.8041G>A (p.Gly2681Ser) rs762186948 0.00001
NM_152564.5(VPS13B):c.8068G>A (p.Val2690Ile) rs751700874 0.00001
NM_152564.5(VPS13B):c.8110G>A (p.Gly2704Arg) rs767536787 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.8218C>T (p.Leu2740Phe) rs772183822 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val) rs1465869942 0.00001
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725 0.00001
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met) rs1297641779 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8293G>A (p.Gly2765Arg) rs750963582 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.8426C>G (p.Ser2809Cys) rs1588743592 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152564.5(VPS13B):c.8480A>G (p.His2827Arg) rs755406876 0.00001
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val) rs797046096 0.00001
NM_152564.5(VPS13B):c.8498T>G (p.Ile2833Ser) rs1231452283 0.00001
NM_152564.5(VPS13B):c.8506T>G (p.Leu2836Val) rs1476327965 0.00001
NM_152564.5(VPS13B):c.8527T>A (p.Leu2843Met) rs778838868 0.00001
NM_152564.5(VPS13B):c.8548C>T (p.Pro2850Ser) rs1452503935 0.00001
NM_152564.5(VPS13B):c.8647G>T (p.Ala2883Ser) rs1260884050 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val) rs1462824433 0.00001
NM_152564.5(VPS13B):c.8735A>G (p.Tyr2912Cys) rs769404310 0.00001
NM_152564.5(VPS13B):c.8741C>T (p.Pro2914Leu) rs147437490 0.00001
NM_152564.5(VPS13B):c.8756A>G (p.Gln2919Arg) rs987741026 0.00001
NM_152564.5(VPS13B):c.8824A>G (p.Met2942Val) rs752484886 0.00001
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr) rs1305759367 0.00001
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) rs753530965 0.00001
NM_152564.5(VPS13B):c.9023C>A (p.Ala3008Glu) rs6992059 0.00001
NM_152564.5(VPS13B):c.910A>G (p.Asn304Asp) rs1320309593 0.00001
NM_152564.5(VPS13B):c.9142G>A (p.Asp3048Asn) rs1480540038 0.00001
NM_152564.5(VPS13B):c.9156A>T (p.Arg3052Ser) rs747092413 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.9311A>G (p.Asn3104Ser) rs1157467792 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.9413G>A (p.Cys3138Tyr) rs759831421 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.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 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.9748C>G (p.Pro3250Ala) rs1295909129 0.00001
NM_152564.5(VPS13B):c.9749C>T (p.Pro3250Leu) rs761208848 0.00001
NM_152564.5(VPS13B):c.9775A>T (p.Ile3259Phe) rs1425945549 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
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg) rs558911841 0.00001
NM_152564.5(VPS13B):c.9968A>G (p.Tyr3323Cys) rs376549169 0.00001
NM_152564.5(VPS13B):c.9976G>A (p.Val3326Met) rs754882929 0.00001
NC_000008.10:g.(?_100026017)_(100026183_?)dup
NC_000008.10:g.(?_100026017)_(100133693_?)dup
NC_000008.10:g.(?_100026017)_(100149000_?)dup
NC_000008.10:g.(?_100026017)_(100287502_?)dup
NC_000008.10:g.(?_100050631)_(100396565_?)dup
NC_000008.10:g.(?_100155202)_(100221801_?)del
NC_000008.10:g.(?_100168757)_(100168991_?)del
NC_000008.10:g.(?_100443745)_(100454883_?)del
NC_000008.10:g.(?_100519978)_(100533258_?)del
NC_000008.11:g.(?_99013769)_(99875686_?)dup
NC_000008.11:g.(?_99096292)_(99156763_?)del
NC_000008.11:g.(?_99096312)_(99148010_?)del
NC_000008.11:g.(?_99102933)_(99103140_?)del
NC_000008.11:g.(?_99102933)_(99209688_?)del
NC_000008.11:g.(?_99142974)_(99143165_?)del
NC_000008.11:g.(?_99766774)_(99784476_?)dup
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs) rs1554824897
NM_017890.5(VPS13B):c.4181T>C (p.Leu1394Ser)
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His) rs768432188
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.5(VPS13B):c.4205T>G (p.Leu1402Arg) rs2133626664
NM_017890.5(VPS13B):c.4208C>T (p.Ser1403Phe) rs2133626671
NM_017890.5(VPS13B):c.4225A>G (p.Asn1409Asp)
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs) rs1554824976
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.5(VPS13B):c.4243G>C (p.Val1415Leu)
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg) rs1554825009
NM_017890.5(VPS13B):c.4255A>C (p.Ser1419Arg) rs1821583064
NM_017890.5(VPS13B):c.4268C>A (p.Pro1423His)
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu) rs1554825023
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_152564.5(VPS13B):c.*1101TGAT[3] rs543048641
NM_152564.5(VPS13B):c.*1106_*1108dup rs765534822
NM_152564.5(VPS13B):c.*1211G>A rs1025183545
NM_152564.5(VPS13B):c.*1431G>A rs866313484
NM_152564.5(VPS13B):c.*1483C>A rs886062558
NM_152564.5(VPS13B):c.*1504_*1507dup rs747583708
NM_152564.5(VPS13B):c.*1570G>A rs186440514
NM_152564.5(VPS13B):c.*1571A>G rs1817736511
NM_152564.5(VPS13B):c.*270C>T rs886062550
NM_152564.5(VPS13B):c.*701A>T rs932121133
NM_152564.5(VPS13B):c.*733A>T rs886062555
NM_152564.5(VPS13B):c.*740G>C rs886062556
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) rs542986432
NM_152564.5(VPS13B):c.10018G>A (p.Ala3340Thr) rs1816114703
NM_152564.5(VPS13B):c.10030A>G (p.Lys3344Glu)
NM_152564.5(VPS13B):c.10037G>C (p.Gly3346Ala) rs2130902601
NM_152564.5(VPS13B):c.10039C>T (p.Pro3347Ser)
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys)
NM_152564.5(VPS13B):c.10061+4G>C rs964791071
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=) rs61753726
NM_152564.5(VPS13B):c.10069G>A (p.Glu3357Lys) rs1563509434
NM_152564.5(VPS13B):c.1008G>C (p.Gln336His) rs2132515981
NM_152564.5(VPS13B):c.10104G>C (p.Gln3368His)
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.10138C>A (p.His3380Asn)
NM_152564.5(VPS13B):c.10139A>G (p.His3380Arg)
NM_152564.5(VPS13B):c.10140C>G (p.His3380Gln) rs1309702539
NM_152564.5(VPS13B):c.10159C>G (p.Leu3387Val)
NM_152564.5(VPS13B):c.10169C>G (p.Thr3390Arg)
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del) rs1554581280
NM_152564.5(VPS13B):c.10181T>G (p.Ile3394Ser)
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala) rs953219294
NM_152564.5(VPS13B):c.10198C>T (p.Pro3400Ser) rs1816400653
NM_152564.5(VPS13B):c.10199C>G (p.Pro3400Arg) rs368041601
NM_152564.5(VPS13B):c.10208G>A (p.Gly3403Asp)
NM_152564.5(VPS13B):c.10224A>T (p.Glu3408Asp)
NM_152564.5(VPS13B):c.10232T>G (p.Val3411Gly)
NM_152564.5(VPS13B):c.10242G>T (p.Leu3414Phe) rs746258724
NM_152564.5(VPS13B):c.10246G>A (p.Glu3416Lys)
NM_152564.5(VPS13B):c.10247A>G (p.Glu3416Gly)
NM_152564.5(VPS13B):c.1025C>T (p.Pro342Leu) rs138271331
NM_152564.5(VPS13B):c.10270T>G (p.Cys3424Gly) rs2130917061
NM_152564.5(VPS13B):c.10274G>C (p.Gly3425Ala) rs1816406076
NM_152564.5(VPS13B):c.1027C>G (p.Gln343Glu)
NM_152564.5(VPS13B):c.10297C>T (p.Leu3433Phe) rs1816407178
NM_152564.5(VPS13B):c.102C>G (p.Asp34Glu)
NM_152564.5(VPS13B):c.10320C>G (p.His3440Gln) rs747699484
NM_152564.5(VPS13B):c.10325C>T (p.Ala3442Val)
NM_152564.5(VPS13B):c.10337G>T (p.Cys3446Phe) rs1260587896
NM_152564.5(VPS13B):c.10351G>A (p.Ala3451Thr) rs1343470928
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del) rs1554581420
NM_152564.5(VPS13B):c.10376T>C (p.Met3459Thr)
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val) rs761972356
NM_152564.5(VPS13B):c.10403A>G (p.Glu3468Gly) rs2130917390
NM_152564.5(VPS13B):c.1040C>T (p.Ser347Leu)
NM_152564.5(VPS13B):c.10414T>C (p.Tyr3472His) rs1816414341
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) rs886062549
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg)
NM_152564.5(VPS13B):c.10455T>G (p.Asn3485Lys) rs2130917547
NM_152564.5(VPS13B):c.10459G>A (p.Gly3487Ser)
NM_152564.5(VPS13B):c.1045G>A (p.Ala349Thr)
NM_152564.5(VPS13B):c.10481T>A (p.Ile3494Asn)
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) rs781420614
NM_152564.5(VPS13B):c.10510G>C (p.Ala3504Pro) rs2130917686
NM_152564.5(VPS13B):c.10514G>A (p.Arg3505Gln)
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.10538T>C (p.Val3513Ala) rs1816420784
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys) rs1816421633
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
NM_152564.5(VPS13B):c.10555T>G (p.Leu3519Val) rs755371144
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu)
NM_152564.5(VPS13B):c.10570C>T (p.Leu3524Phe) rs2130917896
NM_152564.5(VPS13B):c.10578C>G (p.Asn3526Lys) rs148265212
NM_152564.5(VPS13B):c.10579A>C (p.Ser3527Arg) rs1816423653
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp) rs1588786822
NM_152564.5(VPS13B):c.10613G>A (p.Gly3538Glu)
NM_152564.5(VPS13B):c.1061C>T (p.Pro354Leu) rs1274673849
NM_152564.5(VPS13B):c.10633A>C (p.Met3545Leu)
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu)
NM_152564.5(VPS13B):c.10634T>A (p.Met3545Lys) rs1816426749
NM_152564.5(VPS13B):c.1064C>A (p.Ala355Glu)
NM_152564.5(VPS13B):c.10650C>G (p.His3550Gln) rs372367817
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr)
NM_152564.5(VPS13B):c.10664T>C (p.Val3555Ala) rs2130918209
NM_152564.5(VPS13B):c.10667A>C (p.Asn3556Thr)
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu)
NM_152564.5(VPS13B):c.10705A>G (p.Asn3569Asp) rs2130918326
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr) rs779069069
NM_152564.5(VPS13B):c.10739T>C (p.Leu3580Pro)
NM_152564.5(VPS13B):c.1075T>C (p.Tyr359His)
NM_152564.5(VPS13B):c.10763C>G (p.Pro3588Arg)
NM_152564.5(VPS13B):c.10765C>G (p.Leu3589Val)
NM_152564.5(VPS13B):c.10765C>T (p.Leu3589Phe) rs551114360
NM_152564.5(VPS13B):c.10775C>T (p.Ser3592Leu)
NM_152564.5(VPS13B):c.10787G>T (p.Arg3596Ile)
NM_152564.5(VPS13B):c.107T>A (p.Val36Glu) rs1433110217
NM_152564.5(VPS13B):c.10804A>T (p.Thr3602Ser)
NM_152564.5(VPS13B):c.10808C>G (p.Ala3603Gly)
NM_152564.5(VPS13B):c.10815G>T (p.Gln3605His)
NM_152564.5(VPS13B):c.1081G>A (p.Asp361Asn)
NM_152564.5(VPS13B):c.1081G>C (p.Asp361His) rs749019850
NM_152564.5(VPS13B):c.1081G>T (p.Asp361Tyr)
NM_152564.5(VPS13B):c.10825G>T (p.Ala3609Ser)
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys)
NM_152564.5(VPS13B):c.10844C>A (p.Ala3615Asp)
NM_152564.5(VPS13B):c.10871G>C (p.Trp3624Ser)
NM_152564.5(VPS13B):c.10873G>T (p.Val3625Leu) rs777314496
NM_152564.5(VPS13B):c.10874T>C (p.Val3625Ala)
NM_152564.5(VPS13B):c.1087G>C (p.Glu363Gln)
NM_152564.5(VPS13B):c.10885_10887del (p.Leu3629del) rs1554583497
NM_152564.5(VPS13B):c.10934G>C (p.Gly3645Ala)
NM_152564.5(VPS13B):c.10936G>A (p.Val3646Ile) rs1816712060
NM_152564.5(VPS13B):c.10937T>G (p.Val3646Gly)
NM_152564.5(VPS13B):c.10945TTC[1] (p.Phe3650del)
NM_152564.5(VPS13B):c.1094A>C (p.Asp365Ala) rs2132516334
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys)
NM_152564.5(VPS13B):c.10961A>T (p.Tyr3654Phe) rs774678400
NM_152564.5(VPS13B):c.10967G>C (p.Gly3656Ala)
NM_152564.5(VPS13B):c.10975C>T (p.Arg3659Trp) rs1420283003
NM_152564.5(VPS13B):c.10976G>T (p.Arg3659Leu) rs370507425
NM_152564.5(VPS13B):c.10993G>C (p.Val3665Leu) rs151089043
NM_152564.5(VPS13B):c.11027T>C (p.Val3676Ala)
NM_152564.5(VPS13B):c.11035A>T (p.Ile3679Phe)
NM_152564.5(VPS13B):c.11044+5C>G
NM_152564.5(VPS13B):c.11047A>G (p.Thr3683Ala)
NM_152564.5(VPS13B):c.11057C>A (p.Ser3686Tyr) rs1464523452
NM_152564.5(VPS13B):c.11062A>T (p.Thr3688Ser) rs1588797596
NM_152564.5(VPS13B):c.11094G>A (p.Met3698Ile)
NM_152564.5(VPS13B):c.11095G>A (p.Asp3699Asn) rs1476526587
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln) rs750753561
NM_152564.5(VPS13B):c.11099G>T (p.Arg3700Leu) rs750753561
NM_152564.5(VPS13B):c.11113G>A (p.Glu3705Lys) rs780240040
NM_152564.5(VPS13B):c.11134G>A (p.Glu3712Lys)
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del) rs781133717
NM_152564.5(VPS13B):c.11167G>A (p.Gly3723Ser)
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg) rs1816856108
NM_152564.5(VPS13B):c.11169C>T (p.Gly3723=) rs1175793742
NM_152564.5(VPS13B):c.11191T>C (p.Ser3731Pro) rs1816857688
NM_152564.5(VPS13B):c.11194C>T (p.Arg3732Trp)
NM_152564.5(VPS13B):c.11200G>C (p.Gly3734Arg)
NM_152564.5(VPS13B):c.11206A>T (p.Ser3736Cys) rs2130942219
NM_152564.5(VPS13B):c.11216-3C>G
NM_152564.5(VPS13B):c.11221A>G (p.Ile3741Val)
NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val)
NM_152564.5(VPS13B):c.11242C>A (p.Pro3748Thr) rs2130962900
NM_152564.5(VPS13B):c.11243C>T (p.Pro3748Leu)
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11252A>T (p.Asn3751Ile) rs2130962939
NM_152564.5(VPS13B):c.11258A>G (p.Gln3753Arg) rs2130962947
NM_152564.5(VPS13B):c.11264C>T (p.Thr3755Ile)
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro)
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu) rs797046093
NM_152564.5(VPS13B):c.11284G>A (p.Ala3762Thr)
NM_152564.5(VPS13B):c.11285C>T (p.Ala3762Val) rs767840130
NM_152564.5(VPS13B):c.112A>T (p.Ser38Cys) rs2132125588
NM_152564.5(VPS13B):c.11302G>C (p.Gly3768Arg)
NM_152564.5(VPS13B):c.11314G>A (p.Gly3772Ser)
NM_152564.5(VPS13B):c.11315G>C (p.Gly3772Ala)
NM_152564.5(VPS13B):c.11327G>A (p.Gly3776Glu)
NM_152564.5(VPS13B):c.1132C>G (p.Gln378Glu)
NM_152564.5(VPS13B):c.11334G>C (p.Met3778Ile) rs779652081
NM_152564.5(VPS13B):c.11336G>C (p.Gly3779Ala)
NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala) rs1817212364
NM_152564.5(VPS13B):c.11356G>A (p.Gly3786Arg) rs768255145
NM_152564.5(VPS13B):c.11360G>A (p.Gly3787Glu)
NM_152564.5(VPS13B):c.11362G>A (p.Ala3788Thr)
NM_152564.5(VPS13B):c.11392+5G>C
NM_152564.5(VPS13B):c.11392+771C>A
NM_152564.5(VPS13B):c.11392G>A (p.Gly3798Ser)
NM_152564.5(VPS13B):c.11401C>T (p.His3801Tyr)
NM_152564.5(VPS13B):c.11437C>T (p.His3813Tyr)
NM_152564.5(VPS13B):c.1143G>C (p.Gln381His) rs2132516543
NM_152564.5(VPS13B):c.11461G>A (p.Asp3821Asn)
NM_152564.5(VPS13B):c.11481T>G (p.His3827Gln) rs2130972661
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup) rs1554588147
NM_152564.5(VPS13B):c.11492T>C (p.Val3831Ala) rs1563519728
NM_152564.5(VPS13B):c.11496-3C>A
NM_152564.5(VPS13B):c.11521C>A (p.Pro3841Thr) rs1817411525
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu) rs752395430
NM_152564.5(VPS13B):c.11527G>A (p.Val3843Ile) rs943648620
NM_152564.5(VPS13B):c.11542G>A (p.Asp3848Asn) rs558917637
NM_152564.5(VPS13B):c.11548G>T (p.Val3850Phe) rs1817413381
NM_152564.5(VPS13B):c.11572G>A (p.Glu3858Lys) rs910829293
NM_152564.5(VPS13B):c.11572G>C (p.Glu3858Gln) rs910829293
NM_152564.5(VPS13B):c.11572_11574del (p.Glu3858del)
NM_152564.5(VPS13B):c.11599_11601dup (p.Ser3867_Glu3868insSer)
NM_152564.5(VPS13B):c.1159A>G (p.Ile387Val) rs1170794758
NM_152564.5(VPS13B):c.11600C>T (p.Ser3867Leu) rs1057517385
NM_152564.5(VPS13B):c.11608C>G (p.Leu3870Val) rs2130975573
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11617G>C (p.Val3873Leu) rs2130975617
NM_152564.5(VPS13B):c.11638C>G (p.Gln3880Glu) rs147315245
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu)
NM_152564.5(VPS13B):c.11652C>G (p.Phe3884Leu)
NM_152564.5(VPS13B):c.11659A>G (p.Thr3887Ala)
NM_152564.5(VPS13B):c.11660C>T (p.Thr3887Ile) rs1817419149
NM_152564.5(VPS13B):c.11666T>C (p.Ile3889Thr) rs778142738
NM_152564.5(VPS13B):c.1166C>A (p.Ser389Tyr) rs2132516597
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11674G>A (p.Ala3892Thr) rs2130975882
NM_152564.5(VPS13B):c.11679G>C (p.Gln3893His) rs779149986
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu)
NM_152564.5(VPS13B):c.11692AAC[1] (p.Asn3899del) rs1462286408
NM_152564.5(VPS13B):c.11702T>C (p.Leu3901Pro)
NM_152564.5(VPS13B):c.11707G>A (p.Val3903Met) rs144797111
NM_152564.5(VPS13B):c.11711A>G (p.Gln3904Arg) rs1484708441
NM_152564.5(VPS13B):c.11723C>G (p.Pro3908Arg) rs750156428
NM_152564.5(VPS13B):c.11743G>A (p.Glu3915Lys)
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
NM_152564.5(VPS13B):c.11746-10_11746-3dup
NM_152564.5(VPS13B):c.11746-3T>C
NM_152564.5(VPS13B):c.11750A>T (p.Asp3917Val) rs754404502
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11753G>A (p.Gly3918Glu) rs2130990090
NM_152564.5(VPS13B):c.11755G>A (p.Val3919Ile) rs2130990099
NM_152564.5(VPS13B):c.11759G>C (p.Arg3920Pro) rs147907236
NM_152564.5(VPS13B):c.11781G>C (p.Gln3927His) rs1817654141
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del) rs1554590369
NM_152564.5(VPS13B):c.11787C>G (p.Asn3929Lys)
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)
NM_152564.5(VPS13B):c.11794G>A (p.Val3932Met) rs2130990241
NM_152564.5(VPS13B):c.11809A>G (p.Lys3937Glu)
NM_152564.5(VPS13B):c.11813C>A (p.Thr3938Lys)
NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del) rs1236948038
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup) rs1236948038
NM_152564.5(VPS13B):c.11815T>A (p.Ser3939Thr)
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His) rs1010334738
NM_152564.5(VPS13B):c.11834G>A (p.Ser3945Asn) rs1209045692
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del) rs1554590420
NM_152564.5(VPS13B):c.11845A>G (p.Met3949Val) rs1227148786
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys)
NM_152564.5(VPS13B):c.11850A>C (p.Gln3950His)
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11855C>G (p.Pro3952Arg)
NM_152564.5(VPS13B):c.11857T>G (p.Cys3953Gly)
NM_152564.5(VPS13B):c.11858G>A (p.Cys3953Tyr)
NM_152564.5(VPS13B):c.11860C>T (p.Pro3954Ser) rs2130990501
NM_152564.5(VPS13B):c.11863G>A (p.Val3955Met)
NM_152564.5(VPS13B):c.11876A>T (p.Glu3959Val) rs2130990524
NM_152564.5(VPS13B):c.11881C>G (p.Pro3961Ala) rs762256695
NM_152564.5(VPS13B):c.11881C>T (p.Pro3961Ser)
NM_152564.5(VPS13B):c.11882C>T (p.Pro3961Leu) rs765761643
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.11898_11901dup (p.Tyr3968fs)
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs) rs1554590501
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser)
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs) rs1554590506
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup) rs1554590515
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs) rs1554590537
NM_152564.5(VPS13B):c.11912T>C (p.Leu3971Pro) rs2130990713
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup) rs1554590552
NM_152564.5(VPS13B):c.11929G>A (p.Ala3977Thr) rs2130990784
NM_152564.5(VPS13B):c.11929G>T (p.Ala3977Ser) rs2130990784
NM_152564.5(VPS13B):c.11932C>T (p.Gln3978Ter) rs2130990800
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His) rs1012733827
NM_152564.5(VPS13B):c.11938T>G (p.Phe3980Val)
NM_152564.5(VPS13B):c.11941C>T (p.Leu3981Phe)
NM_152564.5(VPS13B):c.11944A>C (p.Ser3982Arg)
NM_152564.5(VPS13B):c.11945G>A (p.Ser3982Asn) rs1370500777
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu)
NM_152564.5(VPS13B):c.11956del (p.Met3986fs)
NM_152564.5(VPS13B):c.11957T>A (p.Met3986Lys)
NM_152564.5(VPS13B):c.11958G>A (p.Met3986Ile) rs774937754
NM_152564.5(VPS13B):c.11959G>C (p.Val3987Leu) rs760214378
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup) rs1554590631
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs) rs1554590620
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs) rs1554590636
NM_152564.5(VPS13B):c.11967_11969dup (p.Asn3989_Lys3990insAsn)
NM_152564.5(VPS13B):c.11967_11970del (p.Asn3989fs)
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.11970dup (p.Ala3991fs)
NM_152564.5(VPS13B):c.11983G>A (p.Gly3995Arg)
NM_152564.5(VPS13B):c.1198A>G (p.Thr400Ala)
NM_152564.5(VPS13B):c.11993_*2dup (p.Ter3998=) rs764705493
NM_152564.5(VPS13B):c.11994A>C (p.Ter3998Cys)
NM_152564.5(VPS13B):c.1206+40T>C rs1554625938
NM_152564.5(VPS13B):c.1207-10T>A rs1293563176
NM_152564.5(VPS13B):c.121G>C (p.Glu41Gln)
NM_152564.5(VPS13B):c.1221A>T (p.Gln407His) rs1269344604
NM_152564.5(VPS13B):c.1234T>A (p.Tyr412Asn) rs1809977101
NM_152564.5(VPS13B):c.1244C>T (p.Pro415Leu)
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_152564.5(VPS13B):c.127A>C (p.Lys43Gln)
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala)
NM_152564.5(VPS13B):c.1294A>G (p.Thr432Ala) rs1809982356
NM_152564.5(VPS13B):c.1302+6C>G
NM_152564.5(VPS13B):c.1303-3T>C rs1464515241
NM_152564.5(VPS13B):c.1309A>G (p.Met437Val)
NM_152564.5(VPS13B):c.1310T>C (p.Met437Thr)
NM_152564.5(VPS13B):c.1318G>A (p.Glu440Lys) rs1320106244
NM_152564.5(VPS13B):c.1321C>T (p.Pro441Ser) rs1563560482
NM_152564.5(VPS13B):c.1324T>G (p.Phe442Val)
NM_152564.5(VPS13B):c.1334_1335delinsTT (p.Cys445Phe) rs1563560499
NM_152564.5(VPS13B):c.133G>A (p.Asp45Asn) rs761491720
NM_152564.5(VPS13B):c.133G>T (p.Asp45Tyr)
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu)
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) rs1810005490
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu) rs1810005848
NM_152564.5(VPS13B):c.1396T>C (p.Phe466Leu) rs2132555298
NM_152564.5(VPS13B):c.1406A>G (p.Asn469Ser) rs1810007051
NM_152564.5(VPS13B):c.1412A>G (p.Asn471Ser)
NM_152564.5(VPS13B):c.1424C>T (p.Thr475Ile) rs765774825
NM_152564.5(VPS13B):c.1440C>A (p.Phe480Leu)
NM_152564.5(VPS13B):c.1442T>C (p.Ile481Thr)
NM_152564.5(VPS13B):c.1469G>A (p.Gly490Asp) rs761218548
NM_152564.5(VPS13B):c.1469G>C (p.Gly490Ala) rs761218548
NM_152564.5(VPS13B):c.148-17A>G rs2132221851
NM_152564.5(VPS13B):c.1484C>A (p.Thr495Lys)
NM_152564.5(VPS13B):c.1516A>T (p.Asn506Tyr)
NM_152564.5(VPS13B):c.1528C>A (p.Arg510Ser) rs139141291
NM_152564.5(VPS13B):c.1528C>G (p.Arg510Gly) rs139141291
NM_152564.5(VPS13B):c.1574C>G (p.Thr525Ser) rs2132559245
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr) rs1810086193
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg) rs1810086193
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu)
NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser) rs1193369148
NM_152564.5(VPS13B):c.161C>T (p.Pro54Leu) rs1253965070
NM_152564.5(VPS13B):c.1628C>A (p.Thr543Lys)
NM_152564.5(VPS13B):c.1639A>T (p.Thr547Ser) rs142971568
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val)
NM_152564.5(VPS13B):c.1651+3A>G
NM_152564.5(VPS13B):c.1651+5del rs779435450
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser) rs1346704740
NM_152564.5(VPS13B):c.1651G>T (p.Gly551Cys) rs1346704740
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala) rs2132580942
NM_152564.5(VPS13B):c.1664A>C (p.Gln555Pro) rs2132580980
NM_152564.5(VPS13B):c.1666C>G (p.Gln556Glu) rs1554639027
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del)
NM_152564.5(VPS13B):c.1712A>G (p.Glu571Gly)
NM_152564.5(VPS13B):c.1721C>G (p.Thr574Ser) rs2132581141
NM_152564.5(VPS13B):c.1721C>T (p.Thr574Ile)
NM_152564.5(VPS13B):c.1726A>G (p.Ser576Gly) rs2132581169
NM_152564.5(VPS13B):c.1727G>C (p.Ser576Thr) rs2132581178
NM_152564.5(VPS13B):c.1739G>A (p.Gly580Asp)
NM_152564.5(VPS13B):c.173T>C (p.Leu58Ser) rs2132221998
NM_152564.5(VPS13B):c.174A>T (p.Leu58Phe) rs2132222005
NM_152564.5(VPS13B):c.1769C>A (p.Ala590Glu) rs182397346
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu)
NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr) rs1588083628
NM_152564.5(VPS13B):c.1814A>C (p.Glu605Ala) rs2132581468
NM_152564.5(VPS13B):c.1823C>T (p.Pro608Leu) rs2132581494
NM_152564.5(VPS13B):c.1826A>T (p.Tyr609Phe)
NM_152564.5(VPS13B):c.1843G>T (p.Asp615Tyr) rs1810522684
NM_152564.5(VPS13B):c.1844-6T>G
NM_152564.5(VPS13B):c.1849A>G (p.Lys617Glu) rs1810824609
NM_152564.5(VPS13B):c.1854T>A (p.Asp618Glu)
NM_152564.5(VPS13B):c.1869A>G (p.Ile623Met) rs1432601796
NM_152564.5(VPS13B):c.186T>G (p.Ile62Met) rs2132222016
NM_152564.5(VPS13B):c.1871T>G (p.Leu624Arg)
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr) rs1027919525
NM_152564.5(VPS13B):c.1885G>C (p.Val629Leu)
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile)
NM_152564.5(VPS13B):c.1894C>G (p.Leu632Val)
NM_152564.5(VPS13B):c.1906A>G (p.Ile636Val) rs2132596795
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln) rs772958839
NM_152564.5(VPS13B):c.1934T>A (p.Leu645His)
NM_152564.5(VPS13B):c.1943G>A (p.Cys648Tyr) rs960819243
NM_152564.5(VPS13B):c.1954A>G (p.Ile652Val) rs886062537
NM_152564.5(VPS13B):c.1969T>C (p.Phe657Leu)
NM_152564.5(VPS13B):c.1972A>T (p.Asn658Tyr) rs2132597122
NM_152564.5(VPS13B):c.1974C>T (p.Asn658=) rs1810832465
NM_152564.5(VPS13B):c.1A>T (p.Met1Leu)
NM_152564.5(VPS13B):c.2004G>A (p.Met668Ile)
NM_152564.5(VPS13B):c.2012A>G (p.Lys671Arg) rs2132597258
NM_152564.5(VPS13B):c.2013+3A>G
NM_152564.5(VPS13B):c.2013+4T>C
NM_152564.5(VPS13B):c.2013G>A (p.Lys671=)
NM_152564.5(VPS13B):c.2020A>G (p.Ser674Gly)
NM_152564.5(VPS13B):c.2032A>G (p.Asn678Asp) rs2132624177
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser) rs751669595
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del) rs1554645561
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala) rs755151137
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.2074C>A (p.Arg692=)
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr)
NM_152564.5(VPS13B):c.2081TGG[1] (p.Val695del) rs765610228
NM_152564.5(VPS13B):c.2083G>A (p.Val695Met) rs763463283
NM_152564.5(VPS13B):c.2089A>G (p.Lys697Glu) rs1563573152
NM_152564.5(VPS13B):c.2091A>T (p.Lys697Asn) rs376694328
NM_152564.5(VPS13B):c.2098C>G (p.Leu700Val) rs2132624430
NM_152564.5(VPS13B):c.2116A>T (p.Met706Leu)
NM_152564.5(VPS13B):c.2117T>C (p.Met706Thr) rs2132624500
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg) rs886062534
NM_152564.5(VPS13B):c.2139T>A (p.His713Gln) rs1811381345
NM_152564.5(VPS13B):c.2146A>C (p.Ser716Arg)
NM_152564.5(VPS13B):c.2149A>G (p.Ser717Gly) rs2132624568
NM_152564.5(VPS13B):c.2177T>C (p.Leu726Pro)
NM_152564.5(VPS13B):c.2208G>C (p.Lys736Asn)
NM_152564.5(VPS13B):c.2241G>C (p.Leu747Phe) rs757030166
NM_152564.5(VPS13B):c.2244T>G (p.Asp748Glu) rs146450992
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys)
NM_152564.5(VPS13B):c.2269G>A (p.Val757Ile) rs1202638841
NM_152564.5(VPS13B):c.2281C>T (p.Pro761Ser) rs1812241248
NM_152564.5(VPS13B):c.2289C>A (p.Phe763Leu)
NM_152564.5(VPS13B):c.2291G>T (p.Ser764Ile)
NM_152564.5(VPS13B):c.229G>A (p.Glu77Lys)
NM_152564.5(VPS13B):c.22C>G (p.Pro8Ala)
NM_152564.5(VPS13B):c.2306G>C (p.Gly769Ala) rs1812242519
NM_152564.5(VPS13B):c.2308A>C (p.Lys770Gln)
NM_152564.5(VPS13B):c.2309A>G (p.Lys770Arg) rs2132663512
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala) rs779218452
NM_152564.5(VPS13B):c.232C>A (p.Pro78Thr) rs954707371
NM_152564.5(VPS13B):c.2330G>A (p.Cys777Tyr) rs900452617
NM_152564.5(VPS13B):c.2333+3A>G
NM_152564.5(VPS13B):c.2334-3C>G rs749105779
NM_152564.5(VPS13B):c.2336C>T (p.Thr779Ile)
NM_152564.5(VPS13B):c.2338A>C (p.Lys780Gln) rs1359263734
NM_152564.5(VPS13B):c.2338A>G (p.Lys780Glu) rs1359263734
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu)
NM_152564.5(VPS13B):c.236T>C (p.Val79Ala) rs1587947443
NM_152564.5(VPS13B):c.2380C>A (p.Pro794Thr) rs754548698
NM_152564.5(VPS13B):c.2383A>T (p.Asn795Tyr) rs781012935
NM_152564.5(VPS13B):c.2395C>A (p.Gln799Lys)
NM_152564.5(VPS13B):c.2404A>G (p.Arg802Gly)
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg)
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg) rs1813686473
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu) rs370570714
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val) rs370570714
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2435A>G (p.Tyr812Cys)
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) rs1813688418
NM_152564.5(VPS13B):c.2452C>T (p.Leu818Phe) rs2132728416
NM_152564.5(VPS13B):c.2488T>G (p.Leu830Val)
NM_152564.5(VPS13B):c.2495A>G (p.Asn832Ser) rs1286492322
NM_152564.5(VPS13B):c.2498A>G (p.Glu833Gly) rs886841517
NM_152564.5(VPS13B):c.249C>G (p.Ile83Met) rs765314153
NM_152564.5(VPS13B):c.2500A>G (p.Ile834Val)
NM_152564.5(VPS13B):c.250A>G (p.Asn84Asp) rs1842839907
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val)
NM_152564.5(VPS13B):c.2513T>C (p.Ile838Thr)
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met)
NM_152564.5(VPS13B):c.2515+16591C>G
NM_152564.5(VPS13B):c.2515G>C (p.Gly839Arg)
NM_152564.5(VPS13B):c.2516-3T>A rs377723973
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.2531A>G (p.Asn844Ser) rs2132994774
NM_152564.5(VPS13B):c.2536C>G (p.Leu846Val) rs934545731
NM_152564.5(VPS13B):c.2542A>G (p.Thr848Ala) rs745738175
NM_152564.5(VPS13B):c.2543C>T (p.Thr848Ile) rs1818769668
NM_152564.5(VPS13B):c.2555C>T (p.Ser852Leu) rs147682334
NM_152564.5(VPS13B):c.2567T>C (p.Val856Ala) rs1588198594
NM_152564.5(VPS13B):c.256A>G (p.Met86Val)
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys) rs1554706171
NM_152564.5(VPS13B):c.2584A>G (p.Ser862Gly) rs2132994953
NM_152564.5(VPS13B):c.2603G>A (p.Cys868Tyr)
NM_152564.5(VPS13B):c.2609C>T (p.Ser870Phe) rs376044341
NM_152564.5(VPS13B):c.2639C>T (p.Ala880Val)
NM_152564.5(VPS13B):c.2642A>C (p.Lys881Thr) rs2132995145
NM_152564.5(VPS13B):c.2648C>T (p.Pro883Leu) rs1192025517
NM_152564.5(VPS13B):c.2649A>G (p.Pro883=)
NM_152564.5(VPS13B):c.2651-12A>G rs886062538
NM_152564.5(VPS13B):c.2677C>A (p.Pro893Thr) rs373346647
NM_152564.5(VPS13B):c.2677C>G (p.Pro893Ala) rs373346647
NM_152564.5(VPS13B):c.2693C>T (p.Pro898Leu) rs1818826321
NM_152564.5(VPS13B):c.2725T>G (p.Trp909Gly)
NM_152564.5(VPS13B):c.2732A>G (p.Asn911Ser) rs1818828701
NM_152564.5(VPS13B):c.2738G>C (p.Ser913Thr) rs751622263
NM_152564.5(VPS13B):c.2738G>T (p.Ser913Ile)
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro) rs886062539
NM_152564.5(VPS13B):c.2776G>A (p.Ala926Thr)
NM_152564.5(VPS13B):c.2783C>G (p.Thr928Arg) rs1563641612
NM_152564.5(VPS13B):c.2800T>C (p.Tyr934His) rs1679704470
NM_152564.5(VPS13B):c.2812T>G (p.Cys938Gly) rs1818832537
NM_152564.5(VPS13B):c.2824+4A>G
NM_152564.5(VPS13B):c.2824G>T (p.Gly942Cys) rs370336663
NM_152564.5(VPS13B):c.2825G>A (p.Gly942Asp)
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu) rs753607562
NM_152564.5(VPS13B):c.2843G>A (p.Ser948Asn) rs749988222
NM_152564.5(VPS13B):c.2845A>G (p.Ile949Val) rs758076178
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_152564.5(VPS13B):c.2864A>G (p.Asn955Ser) rs771483197
NM_152564.5(VPS13B):c.2867T>C (p.Ile956Thr)
NM_152564.5(VPS13B):c.2872C>A (p.Pro958Thr)
NM_152564.5(VPS13B):c.2887T>G (p.Trp963Gly) rs761581467
NM_152564.5(VPS13B):c.2893_2895del (p.Ile965del) rs748137454
NM_152564.5(VPS13B):c.2900A>G (p.Gln967Arg)
NM_152564.5(VPS13B):c.2903C>T (p.Pro968Leu)
NM_152564.5(VPS13B):c.2915C>T (p.Thr972Ile)
NM_152564.5(VPS13B):c.2923C>A (p.His975Asn) rs1813997088
NM_152564.5(VPS13B):c.2927T>C (p.Met976Thr) rs1439673220
NM_152564.5(VPS13B):c.2948C>A (p.Ala983Asp)
NM_152564.5(VPS13B):c.2959G>A (p.Val987Ile) rs1814450578
NM_152564.5(VPS13B):c.2965C>A (p.Pro989Thr)
NM_152564.5(VPS13B):c.2975G>A (p.Arg992Lys)
NM_152564.5(VPS13B):c.2988T>A (p.Asp996Glu) rs758840412
NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly) rs892148263
NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr)
NM_152564.5(VPS13B):c.3005G>A (p.Ser1002Asn)
NM_152564.5(VPS13B):c.3010C>T (p.Pro1004Ser) rs2133312661
NM_152564.5(VPS13B):c.3011C>A (p.Pro1004His)
NM_152564.5(VPS13B):c.3013T>A (p.Leu1005Met) rs1563704394
NM_152564.5(VPS13B):c.3017C>A (p.Ala1006Glu)
NM_152564.5(VPS13B):c.3020A>C (p.Lys1007Thr) rs1297164249
NM_152564.5(VPS13B):c.3020A>G (p.Lys1007Arg) rs1297164249
NM_152564.5(VPS13B):c.3023A>G (p.Gln1008Arg)
NM_152564.5(VPS13B):c.3026A>T (p.Gln1009Leu) rs1814454254
NM_152564.5(VPS13B):c.3058C>A (p.Pro1020Thr)
NM_152564.5(VPS13B):c.3061G>C (p.Val1021Leu)
NM_152564.5(VPS13B):c.3067A>T (p.Thr1023Ser) rs1814455883
NM_152564.5(VPS13B):c.3070A>G (p.Lys1024Glu)
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met)
NM_152564.5(VPS13B):c.3082+11A>G
NM_152564.5(VPS13B):c.3082+5G>A
NM_152564.5(VPS13B):c.3083-5C>G
NM_152564.5(VPS13B):c.3083-6A>C
NM_152564.5(VPS13B):c.310G>A (p.Gly104Ser)
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val)
NM_152564.5(VPS13B):c.3118T>A (p.Leu1040Met) rs746830200
NM_152564.5(VPS13B):c.3158T>A (p.Met1053Lys)
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile)
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys) rs1817118329
NM_152564.5(VPS13B):c.3187G>A (p.Ala1063Thr)
NM_152564.5(VPS13B):c.31A>T (p.Met11Leu)
NM_152564.5(VPS13B):c.3200T>C (p.Leu1067Pro) rs1563727071
NM_152564.5(VPS13B):c.3210G>C (p.Gln1070His) rs1411916211
NM_152564.5(VPS13B):c.3214G>A (p.Glu1072Lys) rs1370204743
NM_152564.5(VPS13B):c.3217G>A (p.Val1073Ile)
NM_152564.5(VPS13B):c.3221A>G (p.Gln1074Arg) rs1348314962
NM_152564.5(VPS13B):c.322A>G (p.Thr108Ala) rs2132431469
NM_152564.5(VPS13B):c.3230G>A (p.Cys1077Tyr)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3244A>C (p.Asn1082His) rs765577339
NM_152564.5(VPS13B):c.3244A>G (p.Asn1082Asp)
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu) rs1196083061
NM_152564.5(VPS13B):c.3252C>A (p.Ser1084Arg)
NM_152564.5(VPS13B):c.3277T>G (p.Ser1093Ala) rs752514763
NM_152564.5(VPS13B):c.3293G>A (p.Gly1098Glu)
NM_152564.5(VPS13B):c.3307T>A (p.Trp1103Arg) rs747406522
NM_152564.5(VPS13B):c.3326G>A (p.Ser1109Asn) rs1474402474
NM_152564.5(VPS13B):c.332G>A (p.Ser111Asn) rs1846417432
NM_152564.5(VPS13B):c.332G>T (p.Ser111Ile)
NM_152564.5(VPS13B):c.3330G>T (p.Met1110Ile) rs773628960
NM_152564.5(VPS13B):c.3341T>C (p.Leu1114Pro) rs1817725649
NM_152564.5(VPS13B):c.3354G>T (p.Leu1118Phe) rs1817726307
NM_152564.5(VPS13B):c.335C>A (p.Thr112Asn) rs1184653913
NM_152564.5(VPS13B):c.3372T>G (p.Ile1124Met) rs1292302782
NM_152564.5(VPS13B):c.3375T>G (p.Ser1125Arg)
NM_152564.5(VPS13B):c.3376G>A (p.Ala1126Thr) rs1817727523
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_152564.5(VPS13B):c.3434T>C (p.Ile1145Thr)
NM_152564.5(VPS13B):c.3443A>G (p.Glu1148Gly)
NM_152564.5(VPS13B):c.3444A>C (p.Glu1148Asp)
NM_152564.5(VPS13B):c.3445+3A>T rs775461539
NM_152564.5(VPS13B):c.3482T>G (p.Phe1161Cys) rs1563746308
NM_152564.5(VPS13B):c.3489A>G (p.Ile1163Met)
NM_152564.5(VPS13B):c.3490T>C (p.Tyr1164His)
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_152564.5(VPS13B):c.3512T>G (p.Val1171Gly) rs771030813
NM_152564.5(VPS13B):c.3521G>A (p.Cys1174Tyr) rs1819171069
NM_152564.5(VPS13B):c.3535A>T (p.Met1179Leu) rs764040349
NM_152564.5(VPS13B):c.3536T>G (p.Met1179Arg)
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser) rs995313030
NM_152564.5(VPS13B):c.3551C>G (p.Thr1184Ser) rs2133511087
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=) rs140905518
NM_152564.5(VPS13B):c.3578T>C (p.Leu1193Pro) rs1160968830
NM_152564.5(VPS13B):c.3578T>G (p.Leu1193Arg) rs1160968830
NM_152564.5(VPS13B):c.3587G>T (p.Gly1196Val) rs2133511258
NM_152564.5(VPS13B):c.3599G>A (p.Arg1200Gln)
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_152564.5(VPS13B):c.363A>T (p.Lys121Asn)
NM_152564.5(VPS13B):c.3650A>T (p.Lys1217Ile) rs138000928
NM_152564.5(VPS13B):c.3653G>T (p.Cys1218Phe)
NM_152564.5(VPS13B):c.3662C>T (p.Pro1221Leu) rs757707584
NM_152564.5(VPS13B):c.3667-5C>G rs886062540
NM_152564.5(VPS13B):c.3674T>G (p.Leu1225Arg)
NM_152564.5(VPS13B):c.368G>A (p.Arg123Gln)
NM_152564.5(VPS13B):c.3691G>T (p.Asp1231Tyr) rs2133556147
NM_152564.5(VPS13B):c.3695T>C (p.Ile1232Thr)
NM_152564.5(VPS13B):c.3697A>G (p.Met1233Val)
NM_152564.5(VPS13B):c.3719T>C (p.Ile1240Thr)
NM_152564.5(VPS13B):c.3734A>G (p.Asn1245Ser)
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924
NM_152564.5(VPS13B):c.3746C>G (p.Ser1249Cys)
NM_152564.5(VPS13B):c.3751A>C (p.Thr1251Pro) rs184693266
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)
NM_152564.5(VPS13B):c.3768G>A (p.Met1256Ile) rs1820047097
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu)
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser) rs527263178
NM_152564.5(VPS13B):c.3800G>A (p.Ser1267Asn)
NM_152564.5(VPS13B):c.3802A>T (p.Ser1268Cys) rs1820049229
NM_152564.5(VPS13B):c.380A>G (p.Gln127Arg) rs2132431749
NM_152564.5(VPS13B):c.3820C>A (p.Pro1274Thr)
NM_152564.5(VPS13B):c.382G>A (p.Ala128Thr)
NM_152564.5(VPS13B):c.3832A>C (p.Thr1278Pro) rs1820050200
NM_152564.5(VPS13B):c.3839G>T (p.Ser1280Ile) rs1441125749
NM_152564.5(VPS13B):c.3860C>G (p.Thr1287Ser) rs966120122
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala) rs1820051985
NM_152564.5(VPS13B):c.3871G>A (p.Gly1291Arg) rs1821241143
NM_152564.5(VPS13B):c.3874G>A (p.Asp1292Asn)
NM_152564.5(VPS13B):c.3880A>G (p.Ile1294Val)
NM_152564.5(VPS13B):c.3882A>G (p.Ile1294Met) rs957432577
NM_152564.5(VPS13B):c.3937A>C (p.Ser1313Arg)
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn)
NM_152564.5(VPS13B):c.3957T>A (p.Ser1319Arg) rs1821244952
NM_152564.5(VPS13B):c.3959G>A (p.Gly1320Glu)
NM_152564.5(VPS13B):c.3961C>T (p.Arg1321Cys)
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_152564.5(VPS13B):c.4032T>G (p.Asn1344Lys)
NM_152564.5(VPS13B):c.4034A>G (p.Lys1345Arg)
NM_152564.5(VPS13B):c.4038C>T (p.Gly1346=)
NM_152564.5(VPS13B):c.4053G>C (p.Met1351Ile) rs1821315903
NM_152564.5(VPS13B):c.4060G>A (p.Glu1354Lys) rs2133613311
NM_152564.5(VPS13B):c.4076G>A (p.Ser1359Asn)
NM_152564.5(VPS13B):c.4079C>T (p.Ala1360Val)
NM_152564.5(VPS13B):c.4084A>G (p.Ile1362Val) rs1230385293
NM_152564.5(VPS13B):c.4130G>T (p.Ser1377Ile) rs2133613470
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser)
NM_152564.5(VPS13B):c.4137T>C (p.Asn1379=) rs1821319108
NM_152564.5(VPS13B):c.4147T>C (p.Tyr1383His)
NM_152564.5(VPS13B):c.4151G>T (p.Arg1384Ile)
NM_152564.5(VPS13B):c.4153A>G (p.Ser1385Gly)
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr) rs1554824649
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala) rs1554824675
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs) rs1554824678
NM_152564.5(VPS13B):c.4224+1G>C rs376982982
NM_152564.5(VPS13B):c.4224+556A>G rs1554824890
NM_152564.5(VPS13B):c.4224+620_4224+622del
NM_152564.5(VPS13B):c.4224+664A>G rs1821583064
NM_152564.5(VPS13B):c.4224+713G>T
NM_152564.5(VPS13B):c.4241T>C (p.Leu1414Pro)
NM_152564.5(VPS13B):c.4245_4247dup (p.Gly1416_Thr1417insGly)
NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly) rs2132453819
NM_152564.5(VPS13B):c.4256A>G (p.Gln1419Arg) rs1189900037
NM_152564.5(VPS13B):c.4259A>G (p.Gln1420Arg)
NM_152564.5(VPS13B):c.4261C>T (p.His1421Tyr)
NM_152564.5(VPS13B):c.4262A>T (p.His1421Leu) rs371961155
NM_152564.5(VPS13B):c.4282T>C (p.Tyr1428His) rs2133637231
NM_152564.5(VPS13B):c.4302_4304dup (p.Lys1434dup) rs1297058561
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys)
NM_152564.5(VPS13B):c.4310G>T (p.Arg1437Leu) rs750810791
NM_152564.5(VPS13B):c.4334A>T (p.Glu1445Val) rs2133637370
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
NM_152564.5(VPS13B):c.4348C>T (p.His1450Tyr)
NM_152564.5(VPS13B):c.4362A>T (p.Glu1454Asp)
NM_152564.5(VPS13B):c.4379CTC[1] (p.Pro1461del)
NM_152564.5(VPS13B):c.4381C>T (p.Pro1461Ser)
NM_152564.5(VPS13B):c.4385A>G (p.His1462Arg)
NM_152564.5(VPS13B):c.4394A>T (p.His1465Leu) rs1588450228
NM_152564.5(VPS13B):c.4395T>A (p.His1465Gln)
NM_152564.5(VPS13B):c.4420T>G (p.Phe1474Val) rs1821776603
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del) rs1554826499
NM_152564.5(VPS13B):c.4441C>T (p.Pro1481Ser)
NM_152564.5(VPS13B):c.4489A>G (p.Thr1497Ala) rs1374233787
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu)
NM_152564.5(VPS13B):c.4508A>G (p.Lys1503Arg)
NM_152564.5(VPS13B):c.4514C>T (p.Pro1505Leu)
NM_152564.5(VPS13B):c.4519C>A (p.Gln1507Lys) rs1178400279
NM_152564.5(VPS13B):c.451G>A (p.Val151Ile) rs772244398
NM_152564.5(VPS13B):c.4526T>C (p.Met1509Thr)
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg) rs1821780332
NM_152564.5(VPS13B):c.4538C>A (p.Thr1513Lys)
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His)
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His)
NM_152564.5(VPS13B):c.4558C>T (p.Pro1520Ser) rs1821781864
NM_152564.5(VPS13B):c.4596T>G (p.Phe1532Leu) rs1198827619
NM_152564.5(VPS13B):c.4615A>G (p.Met1539Val) rs2133638135
NM_152564.5(VPS13B):c.4616T>C (p.Met1539Thr) rs1821784819
NM_152564.5(VPS13B):c.4628T>C (p.Val1543Ala)
NM_152564.5(VPS13B):c.4631A>G (p.Glu1544Gly)
NM_152564.5(VPS13B):c.4632A>C (p.Glu1544Asp)
NM_152564.5(VPS13B):c.4633+4T>C rs1384867213
NM_152564.5(VPS13B):c.4634C>G (p.Ala1545Gly) rs1319725217
NM_152564.5(VPS13B):c.4640A>G (p.Gln1547Arg) rs2133668123
NM_152564.5(VPS13B):c.4646C>G (p.Ala1549Gly)
NM_152564.5(VPS13B):c.4663G>T (p.Val1555Phe) rs1822352324
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) rs886062541
NM_152564.5(VPS13B):c.4690G>C (p.Ala1564Pro)
NM_152564.5(VPS13B):c.4708C>G (p.Pro1570Ala) rs1822354960
NM_152564.5(VPS13B):c.4723G>A (p.Val1575Ile)
NM_152564.5(VPS13B):c.4730G>T (p.Arg1577Met)
NM_152564.5(VPS13B):c.4746-13G>A rs561446691
NM_152564.5(VPS13B):c.4746-3794A>C
NM_152564.5(VPS13B):c.4749A>C (p.Arg1583Ser) rs1824571515
NM_152564.5(VPS13B):c.4756A>C (p.Asn1586His) rs1824571709
NM_152564.5(VPS13B):c.4801C>G (p.Gln1601Glu) rs1241114776
NM_152564.5(VPS13B):c.4831A>G (p.Ile1611Val) rs1824575477
NM_152564.5(VPS13B):c.4837A>G (p.Thr1613Ala)
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys) rs180177360
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu) rs1824576572
NM_152564.5(VPS13B):c.4868A>C (p.Lys1623Thr) rs1824576911
NM_152564.5(VPS13B):c.4868A>T (p.Lys1623Met)
NM_152564.5(VPS13B):c.4870G>A (p.Glu1624Lys)
NM_152564.5(VPS13B):c.4871A>G (p.Glu1624Gly)
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile) rs1014154776
NM_152564.5(VPS13B):c.4885G>A (p.Gly1629Arg)
NM_152564.5(VPS13B):c.4885G>C (p.Gly1629Arg) rs776600965
NM_152564.5(VPS13B):c.4886G>C (p.Gly1629Ala)
NM_152564.5(VPS13B):c.4891G>A (p.Val1631Ile)
NM_152564.5(VPS13B):c.4895C>T (p.Thr1632Ile) rs2133764957
NM_152564.5(VPS13B):c.4900A>G (p.Thr1634Ala)
NM_152564.5(VPS13B):c.4946_4947delinsAA (p.Ser1649Lys) rs1824583703
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=) rs985853073
NM_152564.5(VPS13B):c.4949+3A>T rs1824584392
NM_152564.5(VPS13B):c.4949+6_4949+19del
NM_152564.5(VPS13B):c.4950-2dup rs1554852944
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp)
NM_152564.5(VPS13B):c.4957C>T (p.Arg1653Trp)
NM_152564.5(VPS13B):c.4970G>A (p.Arg1657Lys) rs903367949
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del) rs770497996
NM_152564.5(VPS13B):c.4975G>A (p.Ala1659Thr)
NM_152564.5(VPS13B):c.5001T>A (p.Asp1667Glu)
NM_152564.5(VPS13B):c.5024C>T (p.Ala1675Val)
NM_152564.5(VPS13B):c.5032G>A (p.Val1678Ile)
NM_152564.5(VPS13B):c.5050G>A (p.Val1684Ile)
NM_152564.5(VPS13B):c.505C>T (p.Leu169Phe) rs376498106
NM_152564.5(VPS13B):c.5064T>A (p.Asn1688Lys)
NM_152564.5(VPS13B):c.5065T>A (p.Leu1689Met)
NM_152564.5(VPS13B):c.5075A>G (p.Glu1692Gly) rs1588510428
NM_152564.5(VPS13B):c.5076+3T>C rs2133808668
NM_152564.5(VPS13B):c.5095C>T (p.His1699Tyr) rs765021203
NM_152564.5(VPS13B):c.5111A>G (p.Asn1704Ser) rs1825833646
NM_152564.5(VPS13B):c.5126T>C (p.Leu1709Pro) rs2133812014
NM_152564.5(VPS13B):c.5141G>A (p.Ser1714Asn)
NM_152564.5(VPS13B):c.5165A>G (p.His1722Arg)
NM_152564.5(VPS13B):c.5173A>G (p.Ile1725Val)
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val) rs1825837144
NM_152564.5(VPS13B):c.5192G>A (p.Gly1731Glu)
NM_152564.5(VPS13B):c.5195T>C (p.Leu1732Pro) rs1825837477
NM_152564.5(VPS13B):c.5210A>G (p.Lys1737Arg)
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro) rs572817378
NM_152564.5(VPS13B):c.5220+20875C>A
NM_152564.5(VPS13B):c.5220+3_5220+5del
NM_152564.5(VPS13B):c.5221-24871G>T rs944094510
NM_152564.5(VPS13B):c.5221A>T (p.Ile1741Phe)
NM_152564.5(VPS13B):c.5233G>A (p.Glu1745Lys)
NM_152564.5(VPS13B):c.5233G>C (p.Glu1745Gln)
NM_152564.5(VPS13B):c.5234A>G (p.Glu1745Gly)
NM_152564.5(VPS13B):c.5244A>C (p.Lys1748Asn) rs1481251396
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala) rs1426875703
NM_152564.5(VPS13B):c.5264G>T (p.Gly1755Val)
NM_152564.5(VPS13B):c.5266A>G (p.Met1756Val)
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe) rs547179338
NM_152564.5(VPS13B):c.5347A>G (p.Ile1783Val) rs2133931572
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly) rs905918713
NM_152564.5(VPS13B):c.5372A>T (p.Gln1791Leu) rs2133931614
NM_152564.5(VPS13B):c.5384C>T (p.Ala1795Val)
NM_152564.5(VPS13B):c.5386C>T (p.Arg1796Cys)
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser) rs1829388448
NM_152564.5(VPS13B):c.539C>T (p.Thr180Ile)
NM_152564.5(VPS13B):c.5407A>G (p.Ile1803Val) rs1829389144
NM_152564.5(VPS13B):c.5425T>C (p.Phe1809Leu)
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.5463C>G (p.Ile1821Met)
NM_152564.5(VPS13B):c.5483G>A (p.Cys1828Tyr) rs2133931825
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) rs1829392467
NM_152564.5(VPS13B):c.5489C>T (p.Ala1830Val)
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn) rs2133931905
NM_152564.5(VPS13B):c.5522A>G (p.Asn1841Ser)
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.5551A>T (p.Asn1851Tyr) rs746642412
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn) rs886062542
NM_152564.5(VPS13B):c.5589C>G (p.Asn1863Lys)
NM_152564.5(VPS13B):c.5600T>C (p.Ile1867Thr)
NM_152564.5(VPS13B):c.5608G>A (p.Val1870Met) rs1829397607
NM_152564.5(VPS13B):c.5619A>C (p.Glu1873Asp)
NM_152564.5(VPS13B):c.5624T>A (p.Leu1875His) rs2133932090
NM_152564.5(VPS13B):c.5624T>C (p.Leu1875Pro) rs2133932090
NM_152564.5(VPS13B):c.5629A>G (p.Arg1877Gly) rs1829398507
NM_152564.5(VPS13B):c.5647C>T (p.Pro1883Ser)
NM_152564.5(VPS13B):c.5653G>A (p.Gly1885Arg) rs1829399240
NM_152564.5(VPS13B):c.5653G>T (p.Gly1885Trp) rs1829399240
NM_152564.5(VPS13B):c.5654G>A (p.Gly1885Glu)
NM_152564.5(VPS13B):c.5656A>G (p.Lys1886Glu)
NM_152564.5(VPS13B):c.5662A>G (p.Ile1888Val) rs2133932160
NM_152564.5(VPS13B):c.5675C>T (p.Ser1892Phe) rs1588579775
NM_152564.5(VPS13B):c.5690A>G (p.His1897Arg) rs1329528398
NM_152564.5(VPS13B):c.5714G>C (p.Arg1905Thr) rs1829402250
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val)
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly)
NM_152564.5(VPS13B):c.5734A>G (p.Ile1912Val) rs1829403087
NM_152564.5(VPS13B):c.5735T>C (p.Ile1912Thr) rs1829403156
NM_152564.5(VPS13B):c.5737G>T (p.Val1913Phe) rs2133932316
NM_152564.5(VPS13B):c.5740C>T (p.Arg1914Trp)
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.5753G>A (p.Arg1918Gln)
NM_152564.5(VPS13B):c.5768A>C (p.Asp1923Ala) rs1829404418
NM_152564.5(VPS13B):c.5773C>A (p.Gln1925Lys) rs2133932374
NM_152564.5(VPS13B):c.5777T>C (p.Leu1926Pro) rs1829404779
NM_152564.5(VPS13B):c.5809C>G (p.Pro1937Ala) rs1829406082
NM_152564.5(VPS13B):c.580G>A (p.Ala194Thr)
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val) rs751559027
NM_152564.5(VPS13B):c.5819T>C (p.Leu1940Pro) rs2133932465
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln)
NM_152564.5(VPS13B):c.5848G>C (p.Val1950Leu)
NM_152564.5(VPS13B):c.5849T>C (p.Val1950Ala)
NM_152564.5(VPS13B):c.584C>T (p.Thr195Ile) rs770738729
NM_152564.5(VPS13B):c.5885T>C (p.Val1962Ala) rs149408318
NM_152564.5(VPS13B):c.5894A>C (p.Asp1965Ala)
NM_152564.5(VPS13B):c.5908+14A>C rs886062543
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5911C>T (p.Pro1971Ser)
NM_152564.5(VPS13B):c.5921C>T (p.Thr1974Ile)
NM_152564.5(VPS13B):c.5924T>G (p.Leu1975Arg) rs766541661
NM_152564.5(VPS13B):c.5931A>T (p.Glu1977Asp) rs1830218052
NM_152564.5(VPS13B):c.5953T>G (p.Trp1985Gly) rs2129763705
NM_152564.5(VPS13B):c.596T>G (p.Leu199Arg)
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn)
NM_152564.5(VPS13B):c.5990G>A (p.Ser1997Asn)
NM_152564.5(VPS13B):c.5995A>G (p.Ile1999Val)
NM_152564.5(VPS13B):c.5998C>T (p.Pro2000Ser) rs939700991
NM_152564.5(VPS13B):c.5T>A (p.Leu2Gln)
NM_152564.5(VPS13B):c.6004T>C (p.Ser2002Pro)
NM_152564.5(VPS13B):c.6023T>A (p.Ile2008Asn) rs1341696957
NM_152564.5(VPS13B):c.6039T>A (p.Asn2013Lys) rs1211147648
NM_152564.5(VPS13B):c.6039T>G (p.Asn2013Lys)
NM_152564.5(VPS13B):c.6050A>G (p.Asp2017Gly) rs1157627196
NM_152564.5(VPS13B):c.6052G>A (p.Val2018Ile) rs2130179163
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr)
NM_152564.5(VPS13B):c.6082G>A (p.Ala2028Thr) rs1310217789
NM_152564.5(VPS13B):c.6082G>C (p.Ala2028Pro) rs1310217789
NM_152564.5(VPS13B):c.60C>A (p.Asn20Lys) rs2132125423
NM_152564.5(VPS13B):c.6103C>A (p.Leu2035Met)
NM_152564.5(VPS13B):c.610A>C (p.Asn204His) rs2132481643
NM_152564.5(VPS13B):c.610A>G (p.Asn204Asp) rs2132481643
NM_152564.5(VPS13B):c.6117C>A (p.Asn2039Lys) rs2130179604
NM_152564.5(VPS13B):c.6132G>T (p.Lys2044Asn) rs1832185851
NM_152564.5(VPS13B):c.6134T>C (p.Ile2045Thr)
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=) rs761542645
NM_152564.5(VPS13B):c.6143C>T (p.Ala2048Val) rs1832186518
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr)
NM_152564.5(VPS13B):c.6154G>T (p.Ala2052Ser)
NM_152564.5(VPS13B):c.6158A>G (p.His2053Arg) rs762539148
NM_152564.5(VPS13B):c.6160A>C (p.Ser2054Arg)
NM_152564.5(VPS13B):c.6161G>C (p.Ser2054Thr)
NM_152564.5(VPS13B):c.6179T>C (p.Met2060Thr)
NM_152564.5(VPS13B):c.6184A>G (p.Asn2062Asp) rs754400139
NM_152564.5(VPS13B):c.6185A>G (p.Asn2062Ser)
NM_152564.5(VPS13B):c.6202G>T (p.Asp2068Tyr)
NM_152564.5(VPS13B):c.6208C>T (p.Leu2070Phe)
NM_152564.5(VPS13B):c.621C>G (p.Asp207Glu) rs1847342750
NM_152564.5(VPS13B):c.6220A>G (p.Lys2074Glu) rs2130180328
NM_152564.5(VPS13B):c.6226T>C (p.Tyr2076His)
NM_152564.5(VPS13B):c.6226T>G (p.Tyr2076Asp) rs1832190256
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.623G>A (p.Cys208Tyr) rs1209535812
NM_152564.5(VPS13B):c.6248C>T (p.Pro2083Leu) rs1184896116
NM_152564.5(VPS13B):c.6257A>G (p.His2086Arg)
NM_152564.5(VPS13B):c.6266G>A (p.Gly2089Glu) rs398124336
NM_152564.5(VPS13B):c.6269T>C (p.Val2090Ala) rs1832191327
NM_152564.5(VPS13B):c.6298T>C (p.Trp2100Arg) rs758902485
NM_152564.5(VPS13B):c.6301A>G (p.Arg2101Gly) rs767165760
NM_152564.5(VPS13B):c.6304G>A (p.Ala2102Thr)
NM_152564.5(VPS13B):c.6313T>G (p.Cys2105Gly)
NM_152564.5(VPS13B):c.6336A>T (p.Gln2112His) rs780082543
NM_152564.5(VPS13B):c.6346A>G (p.Ile2116Val)
NM_152564.5(VPS13B):c.6362A>G (p.Glu2121Gly) rs2130181316
NM_152564.5(VPS13B):c.6371C>G (p.Pro2124Arg) rs762559001
NM_152564.5(VPS13B):c.6377C>G (p.Thr2126Ser)
NM_152564.5(VPS13B):c.6398C>A (p.Ala2133Glu) rs2130181520
NM_152564.5(VPS13B):c.6422G>C (p.Ser2141Thr)
NM_152564.5(VPS13B):c.6451C>T (p.Pro2151Ser) rs2130181723
NM_152564.5(VPS13B):c.6457A>G (p.Ile2153Val)
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn)
NM_152564.5(VPS13B):c.6507A>C (p.Lys2169Asn) rs1367000031
NM_152564.5(VPS13B):c.6511A>G (p.Ser2171Gly)
NM_152564.5(VPS13B):c.6513T>A (p.Ser2171Arg)
NM_152564.5(VPS13B):c.6524G>T (p.Arg2175Ile) rs543464415
NM_152564.5(VPS13B):c.6529C>A (p.Arg2177Ser) rs756143690
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys) rs756143690
NM_152564.5(VPS13B):c.6530G>T (p.Arg2177Leu) rs147099791
NM_152564.5(VPS13B):c.6538A>G (p.Ile2180Val) rs1179122669
NM_152564.5(VPS13B):c.6539T>G (p.Ile2180Arg)
NM_152564.5(VPS13B):c.6542G>A (p.Gly2181Glu)
NM_152564.5(VPS13B):c.6544C>T (p.Pro2182Ser) rs778567402
NM_152564.5(VPS13B):c.6560C>T (p.Ala2187Val)
NM_152564.5(VPS13B):c.6563A>G (p.Asn2188Ser) rs1399212150
NM_152564.5(VPS13B):c.6565C>A (p.Leu2189Met) rs1299494623
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg)
NM_152564.5(VPS13B):c.6579G>C (p.Trp2193Cys) rs763341700
NM_152564.5(VPS13B):c.6589A>C (p.Ser2197Arg) rs1319011435
NM_152564.5(VPS13B):c.6635A>C (p.Asp2212Ala) rs1832965733
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=) rs2130339813
NM_152564.5(VPS13B):c.6673G>C (p.Glu2225Gln) rs1026588488
NM_152564.5(VPS13B):c.6682A>G (p.Asn2228Asp)
NM_152564.5(VPS13B):c.6690A>T (p.Leu2230Phe)
NM_152564.5(VPS13B):c.6698T>G (p.Leu2233Arg) rs776873589
NM_152564.5(VPS13B):c.6746T>A (p.Val2249Glu) rs1833089427
NM_152564.5(VPS13B):c.6747_6752del (p.Gln2250_Val2251del) rs1833089374
NM_152564.5(VPS13B):c.6749A>C (p.Gln2250Pro) rs1180682567
NM_152564.5(VPS13B):c.6760C>T (p.Pro2254Ser)
NM_152564.5(VPS13B):c.6806A>T (p.Lys2269Ile)
NM_152564.5(VPS13B):c.6842T>A (p.Leu2281Gln)
NM_152564.5(VPS13B):c.6848A>T (p.Gln2283Leu) rs1833091984
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg) rs200713917
NM_152564.5(VPS13B):c.6860A>G (p.Asp2287Gly)
NM_152564.5(VPS13B):c.6862G>A (p.Ala2288Thr)
NM_152564.5(VPS13B):c.6866-14C>G rs1277958075
NM_152564.5(VPS13B):c.6878T>C (p.Leu2293Ser)
NM_152564.5(VPS13B):c.6881C>T (p.Pro2294Leu) rs1833104493
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys) rs1833105159
NM_152564.5(VPS13B):c.6919G>A (p.Asp2307Asn) rs1833105526
NM_152564.5(VPS13B):c.6930G>T (p.Gly2310=)
NM_152564.5(VPS13B):c.6955C>T (p.Pro2319Ser)
NM_152564.5(VPS13B):c.6962_6963delinsCG (p.Val2321Ala) rs1833106696
NM_152564.5(VPS13B):c.6970C>G (p.Leu2324Val) rs2130343510
NM_152564.5(VPS13B):c.6983C>T (p.Thr2328Ile)
NM_152564.5(VPS13B):c.6985C>G (p.Pro2329Ala)
NM_152564.5(VPS13B):c.6988G>A (p.Val2330Ile)
NM_152564.5(VPS13B):c.6988G>T (p.Val2330Leu)
NM_152564.5(VPS13B):c.7022G>A (p.Ser2341Asn) rs2130343782
NM_152564.5(VPS13B):c.7033C>G (p.Leu2345Val)
NM_152564.5(VPS13B):c.7040A>T (p.Asp2347Val) rs1563881705
NM_152564.5(VPS13B):c.7050+2243A>G
NM_152564.5(VPS13B):c.7050+5G>A rs1302816737
NM_152564.5(VPS13B):c.706A>G (p.Thr236Ala) rs1847346139
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg)
NM_152564.5(VPS13B):c.7088A>T (p.Lys2363Met)
NM_152564.5(VPS13B):c.7106G>A (p.Arg2369Lys)
NM_152564.5(VPS13B):c.7116T>A (p.Asn2372Lys)
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe) rs1373068816
NM_152564.5(VPS13B):c.7141C>G (p.Leu2381Val)
NM_152564.5(VPS13B):c.7147_7149del (p.Leu2383del) rs2130621539
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg) rs183874686
NM_152564.5(VPS13B):c.7153G>A (p.Asp2385Asn) rs1347208371
NM_152564.5(VPS13B):c.7156A>T (p.Ile2386Phe) rs370689956
NM_152564.5(VPS13B):c.7159A>C (p.Asn2387His) rs915120404
NM_152564.5(VPS13B):c.7163T>A (p.Leu2388His)
NM_152564.5(VPS13B):c.7180A>G (p.Lys2394Glu)
NM_152564.5(VPS13B):c.7186G>A (p.Val2396Ile)
NM_152564.5(VPS13B):c.7195G>A (p.Asp2399Asn) rs1563907935
NM_152564.5(VPS13B):c.7204A>G (p.Arg2402Gly)
NM_152564.5(VPS13B):c.721A>G (p.Thr241Ala)
NM_152564.5(VPS13B):c.722C>T (p.Thr241Ile)
NM_152564.5(VPS13B):c.7231G>A (p.Gly2411Arg) rs2130621965
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly) rs780093448
NM_152564.5(VPS13B):c.7246A>C (p.Ser2416Arg)
NM_152564.5(VPS13B):c.7250C>T (p.Ser2417Phe)
NM_152564.5(VPS13B):c.7259A>G (p.Glu2420Gly) rs1811762443
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe)
NM_152564.5(VPS13B):c.7273A>C (p.Ser2425Arg)
NM_152564.5(VPS13B):c.7276A>G (p.Thr2426Ala) rs2130667997
NM_152564.5(VPS13B):c.7277C>G (p.Thr2426Ser) rs1811763232
NM_152564.5(VPS13B):c.728A>G (p.Glu243Gly)
NM_152564.5(VPS13B):c.7295C>T (p.Thr2432Ile) rs2130668061
NM_152564.5(VPS13B):c.7330T>A (p.Ser2444Thr) rs373779146
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser)
NM_152564.5(VPS13B):c.7347G>T (p.Trp2449Cys)
NM_152564.5(VPS13B):c.7351G>A (p.Val2451Ile)
NM_152564.5(VPS13B):c.7367T>C (p.Val2456Ala) rs1811766657
NM_152564.5(VPS13B):c.7370C>G (p.Ser2457Cys) rs773594659
NM_152564.5(VPS13B):c.7406A>G (p.His2469Arg)
NM_152564.5(VPS13B):c.7423G>C (p.Gly2475Arg)
NM_152564.5(VPS13B):c.7424G>A (p.Gly2475Asp) rs2130668636
NM_152564.5(VPS13B):c.7426A>G (p.Thr2476Ala) rs2130668658
NM_152564.5(VPS13B):c.7427C>A (p.Thr2476Lys) rs2130668663
NM_152564.5(VPS13B):c.7429+3A>G rs1811769162
NM_152564.5(VPS13B):c.7429+6C>T rs1563912462
NM_152564.5(VPS13B):c.7430C>T (p.Ala2477Val) rs761890013
NM_152564.5(VPS13B):c.744G>T (p.Lys248Asn) rs2132482090
NM_152564.5(VPS13B):c.7453T>C (p.Phe2485Leu) rs1811864935
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn) rs780602782
NM_152564.5(VPS13B):c.7466G>T (p.Arg2489Ile) rs1438199361
NM_152564.5(VPS13B):c.746T>C (p.Met249Thr) rs1251254222
NM_152564.5(VPS13B):c.7472T>G (p.Met2491Arg) rs1588704212
NM_152564.5(VPS13B):c.74A>T (p.Asp25Val) rs1841449266
NM_152564.5(VPS13B):c.7508G>A (p.Arg2503Lys) rs2130678538
NM_152564.5(VPS13B):c.7520T>C (p.Met2507Thr)
NM_152564.5(VPS13B):c.7536G>C (p.Trp2512Cys) rs1434963421
NM_152564.5(VPS13B):c.7536G>T (p.Trp2512Cys) rs1434963421
NM_152564.5(VPS13B):c.7540A>G (p.Asn2514Asp) rs1811867927
NM_152564.5(VPS13B):c.7547C>G (p.Ser2516Cys) rs2130678778
NM_152564.5(VPS13B):c.7549G>A (p.Val2517Ile) rs946554822
NM_152564.5(VPS13B):c.7552T>C (p.Cys2518Arg)
NM_152564.5(VPS13B):c.7565A>G (p.Gln2522Arg)
NM_152564.5(VPS13B):c.7576C>G (p.Gln2526Glu)
NM_152564.5(VPS13B):c.7594C>G (p.Leu2532Val)
NM_152564.5(VPS13B):c.7606A>G (p.Asn2536Asp) rs979347048
NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala) rs751188155
NM_152564.5(VPS13B):c.7610T>G (p.Val2537Gly)
NM_152564.5(VPS13B):c.7616T>G (p.Met2539Arg) rs1290655527
NM_152564.5(VPS13B):c.7617G>A (p.Met2539Ile)
NM_152564.5(VPS13B):c.7618C>G (p.Gln2540Glu)
NM_152564.5(VPS13B):c.761A>G (p.Lys254Arg)
NM_152564.5(VPS13B):c.762+20_762+21delinsAA
NM_152564.5(VPS13B):c.762+4G>A rs2132482160
NM_152564.5(VPS13B):c.762+5G>T rs1847351205
NM_152564.5(VPS13B):c.7624GTG[1] (p.Val2543del) rs1811870870
NM_152564.5(VPS13B):c.7625T>C (p.Val2542Ala) rs2130679096
NM_152564.5(VPS13B):c.7627G>T (p.Val2543Leu)
NM_152564.5(VPS13B):c.7634C>T (p.Pro2545Leu)
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg)
NM_152564.5(VPS13B):c.7657G>A (p.Ala2553Thr)
NM_152564.5(VPS13B):c.7658C>T (p.Ala2553Val) rs2130679255
NM_152564.5(VPS13B):c.7683G>T (p.Lys2561Asn) rs1205859728
NM_152564.5(VPS13B):c.7691A>G (p.Asp2564Gly) rs2130679527
NM_152564.5(VPS13B):c.7696A>G (p.Thr2566Ala)
NM_152564.5(VPS13B):c.7703T>C (p.Ile2568Thr) rs1811877032
NM_152564.5(VPS13B):c.7706T>C (p.Val2569Ala) rs1434588029
NM_152564.5(VPS13B):c.7737T>A (p.His2579Gln) rs147593451
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val) rs774362514
NM_152564.5(VPS13B):c.7779+5G>T rs1454252779
NM_152564.5(VPS13B):c.7779G>A (p.Gln2593=) rs796478997
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His)
NM_152564.5(VPS13B):c.7820T>C (p.Phe2607Ser)
NM_152564.5(VPS13B):c.7840C>A (p.Gln2614Lys)
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile) rs1812159282
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro) rs1563916076
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp)
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr) rs886062544
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys) rs1812163324
NM_152564.5(VPS13B):c.7941+6T>C
NM_152564.5(VPS13B):c.7942-6dup rs2130785582
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val) rs765442907
NM_152564.5(VPS13B):c.7942C>T (p.Leu2648=)
NM_152564.5(VPS13B):c.7951A>G (p.Ile2651Val) rs1588732028
NM_152564.5(VPS13B):c.7954T>G (p.Cys2652Gly)
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr) rs1813583407
NM_152564.5(VPS13B):c.7960G>A (p.Glu2654Lys) rs2130785652
NM_152564.5(VPS13B):c.7963G>C (p.Gly2655Arg) rs1433870539
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del) rs1554560677
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu)
NM_152564.5(VPS13B):c.8034G>T (p.Gln2678His)
NM_152564.5(VPS13B):c.8035T>C (p.Tyr2679His)
NM_152564.5(VPS13B):c.8060T>C (p.Ile2687Thr) rs2130785937
NM_152564.5(VPS13B):c.8061C>G (p.Ile2687Met)
NM_152564.5(VPS13B):c.8068G>T (p.Val2690Phe)
NM_152564.5(VPS13B):c.8074C>G (p.Gln2692Glu)
NM_152564.5(VPS13B):c.8075A>C (p.Gln2692Pro) rs1588732177
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe) rs984666923
NM_152564.5(VPS13B):c.8081A>G (p.Asn2694Ser)
NM_152564.5(VPS13B):c.8107T>C (p.Cys2703Arg) rs2130810579
NM_152564.5(VPS13B):c.8121C>G (p.Ile2707Met)
NM_152564.5(VPS13B):c.8126G>A (p.Cys2709Tyr)
NM_152564.5(VPS13B):c.812T>G (p.Leu271Arg)
NM_152564.5(VPS13B):c.8142A>T (p.Gln2714His)
NM_152564.5(VPS13B):c.817A>G (p.Met273Val)
NM_152564.5(VPS13B):c.821T>G (p.Phe274Cys) rs1847625470
NM_152564.5(VPS13B):c.8228A>G (p.Lys2743Arg)
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln)
NM_152564.5(VPS13B):c.8255A>G (p.Glu2752Gly) rs1563488856
NM_152564.5(VPS13B):c.8266C>G (p.Leu2756Val)
NM_152564.5(VPS13B):c.8269A>G (p.Thr2757Ala) rs750066675
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu) rs886062545
NM_152564.5(VPS13B):c.8297A>T (p.Asp2766Val)
NM_152564.5(VPS13B):c.8300A>C (p.Glu2767Ala)
NM_152564.5(VPS13B):c.832A>T (p.Met278Leu)
NM_152564.5(VPS13B):c.8330C>T (p.Ser2777Phe) rs2130811098
NM_152564.5(VPS13B):c.8339C>G (p.Pro2780Arg)
NM_152564.5(VPS13B):c.8361+3T>C
NM_152564.5(VPS13B):c.8362G>T (p.Val2788Leu)
NM_152564.5(VPS13B):c.8365C>T (p.Pro2789Ser) rs1814171272
NM_152564.5(VPS13B):c.8369C>T (p.Ser2790Phe)
NM_152564.5(VPS13B):c.8374A>T (p.Asn2792Tyr)
NM_152564.5(VPS13B):c.8381C>A (p.Ser2794Tyr)
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8405T>C (p.Val2802Ala) rs1814173866
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser)
NM_152564.5(VPS13B):c.8423A>T (p.Asn2808Ile)
NM_152564.5(VPS13B):c.8435A>T (p.Gln2812Leu) rs1814175380
NM_152564.5(VPS13B):c.8443A>G (p.Met2815Val) rs989835229
NM_152564.5(VPS13B):c.8444T>G (p.Met2815Arg) rs1427709841
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met) rs1362379578
NM_152564.5(VPS13B):c.8475_8477delinsTCA (p.Arg2825_Ser2826delinsSerHis)
NM_152564.5(VPS13B):c.8490C>A (p.Asp2830Glu)
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del) rs1554566693
NM_152564.5(VPS13B):c.8504A>G (p.His2835Arg)
NM_152564.5(VPS13B):c.8505T>G (p.His2835Gln) rs1814195672
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser)
NM_152564.5(VPS13B):c.8581A>G (p.Ile2861Val)
NM_152564.5(VPS13B):c.8592C>A (p.Asp2864Glu)
NM_152564.5(VPS13B):c.8593C>G (p.Leu2865Val) rs1814199572
NM_152564.5(VPS13B):c.8593C>T (p.Leu2865Phe)
NM_152564.5(VPS13B):c.8605C>G (p.Leu2869Val) rs1448710192
NM_152564.5(VPS13B):c.8614C>A (p.Gln2872Lys) rs2130814214
NM_152564.5(VPS13B):c.8621+4C>G rs1563489649
NM_152564.5(VPS13B):c.8621+4C>T rs1563489649
NM_152564.5(VPS13B):c.8621+6A>G
NM_152564.5(VPS13B):c.8628A>G (p.Glu2876=) rs1814236267
NM_152564.5(VPS13B):c.862G>A (p.Glu288Lys)
NM_152564.5(VPS13B):c.8633A>G (p.Asp2878Gly) rs1563490033
NM_152564.5(VPS13B):c.8633A>T (p.Asp2878Val) rs1563490033
NM_152564.5(VPS13B):c.8654C>T (p.Pro2885Leu)
NM_152564.5(VPS13B):c.8671A>G (p.Ile2891Val) rs1814238254
NM_152564.5(VPS13B):c.8692G>A (p.Val2898Ile) rs200611924
NM_152564.5(VPS13B):c.8695C>T (p.His2899Tyr) rs895271990
NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln) rs375911218
NM_152564.5(VPS13B):c.8719A>C (p.Ile2907Leu)
NM_152564.5(VPS13B):c.8733C>A (p.Phe2911Leu) rs1027859307
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val) rs779095081
NM_152564.5(VPS13B):c.8750C>G (p.Ser2917Trp) rs139732310
NM_152564.5(VPS13B):c.8755C>A (p.Gln2919Lys) rs1342501390
NM_152564.5(VPS13B):c.8761A>G (p.Ile2921Val)
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu)
NM_152564.5(VPS13B):c.8786C>A (p.Ser2929Tyr)
NM_152564.5(VPS13B):c.8788G>A (p.Asp2930Asn) rs2130816418
NM_152564.5(VPS13B):c.8793-7G>A rs886062547
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT rs756641209
NM_152564.5(VPS13B):c.8796T>A (p.Asn2932Lys)
NM_152564.5(VPS13B):c.8797G>A (p.Glu2933Lys) rs1814270658
NM_152564.5(VPS13B):c.8804T>C (p.Leu2935Pro)
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu)
NM_152564.5(VPS13B):c.884G>A (p.Gly295Asp) rs1847627643
NM_152564.5(VPS13B):c.8851C>A (p.Pro2951Thr)
NM_152564.5(VPS13B):c.8855A>G (p.Tyr2952Cys)
NM_152564.5(VPS13B):c.8866T>G (p.Leu2956Val) rs1814273513
NM_152564.5(VPS13B):c.8870T>C (p.Leu2957Ser)
NM_152564.5(VPS13B):c.887A>G (p.Glu296Gly)
NM_152564.5(VPS13B):c.8920C>A (p.Leu2974Ile)
NM_152564.5(VPS13B):c.8940G>C (p.Glu2980Asp) rs1814276106
NM_152564.5(VPS13B):c.895G>A (p.Asp299Asn)
NM_152564.5(VPS13B):c.8963C>T (p.Ala2988Val) rs1814277012
NM_152564.5(VPS13B):c.8965G>A (p.Gly2989Ser) rs1814277192
NM_152564.5(VPS13B):c.8965G>T (p.Gly2989Cys) rs1814277192
NM_152564.5(VPS13B):c.8980C>T (p.Pro2994Ser) rs1814277690
NM_152564.5(VPS13B):c.8981C>T (p.Pro2994Leu) rs913607878
NM_152564.5(VPS13B):c.8983C>A (p.Pro2995Thr) rs1180231209
NM_152564.5(VPS13B):c.8983C>T (p.Pro2995Ser) rs1180231209
NM_152564.5(VPS13B):c.8994+6A>G rs2130817893
NM_152564.5(VPS13B):c.8999C>G (p.Ala3000Gly)
NM_152564.5(VPS13B):c.9019T>G (p.Trp3007Gly)
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val) rs6992059
NM_152564.5(VPS13B):c.9029C>A (p.Thr3010Lys)
NM_152564.5(VPS13B):c.902C>G (p.Thr301Ser) rs1847628494
NM_152564.5(VPS13B):c.9062T>C (p.Leu3021Pro)
NM_152564.5(VPS13B):c.9068A>G (p.His3023Arg) rs755304703
NM_152564.5(VPS13B):c.907C>G (p.His303Asp) rs1847628600
NM_152564.5(VPS13B):c.9111A>G (p.Glu3037=) rs2130822154
NM_152564.5(VPS13B):c.9128A>G (p.Glu3043Gly) rs778973890
NM_152564.5(VPS13B):c.9140T>C (p.Val3047Ala)
NM_152564.5(VPS13B):c.9143A>G (p.Asp3048Gly) rs2130822238
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys)
NM_152564.5(VPS13B):c.9158T>C (p.Leu3053Pro) rs953473434
NM_152564.5(VPS13B):c.9186A>T (p.Leu3062Phe) rs984224710
NM_152564.5(VPS13B):c.9193T>C (p.Phe3065Leu)
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe) rs1814517169
NM_152564.5(VPS13B):c.9208A>G (p.Met3070Val) rs1386338109
NM_152564.5(VPS13B):c.9220G>A (p.Gly3074Ser) rs762740344
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly) rs1814518745
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly) rs1563492523
NM_152564.5(VPS13B):c.9259A>C (p.Ile3087Leu) rs768346495
NM_152564.5(VPS13B):c.9263A>G (p.Asn3088Ser) rs1814519813
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=) rs886062548
NM_152564.5(VPS13B):c.9268A>G (p.Thr3090Ala) rs2130828886
NM_152564.5(VPS13B):c.926G>A (p.Gly309Glu)
NM_152564.5(VPS13B):c.9283T>G (p.Phe3095Val) rs1814520891
NM_152564.5(VPS13B):c.9293C>A (p.Pro3098Gln) rs917260056
NM_152564.5(VPS13B):c.9293_9295dup (p.Pro3098dup) rs1182385860
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) rs748030120
NM_152564.5(VPS13B):c.9314C>T (p.Pro3105Leu)
NM_152564.5(VPS13B):c.9322G>A (p.Gly3108Arg) rs1814523416
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-21_9331-3del rs370235149
NM_152564.5(VPS13B):c.9332A>G (p.Tyr3111Cys)
NM_152564.5(VPS13B):c.9337C>T (p.Arg3113Cys)
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn)
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala)
NM_152564.5(VPS13B):c.9359T>C (p.Phe3120Ser) rs1490268361
NM_152564.5(VPS13B):c.937+4A>G
NM_152564.5(VPS13B):c.937+6G>A rs2132498266
NM_152564.5(VPS13B):c.9370C>T (p.Pro3124Ser)
NM_152564.5(VPS13B):c.9371C>G (p.Pro3124Arg)
NM_152564.5(VPS13B):c.9377G>A (p.Gly3126Glu) rs2130857969
NM_152564.5(VPS13B):c.938-8A>G
NM_152564.5(VPS13B):c.9386C>G (p.Pro3129Arg)
NM_152564.5(VPS13B):c.9388G>A (p.Ala3130Thr) rs2130858010
NM_152564.5(VPS13B):c.9388G>C (p.Ala3130Pro) rs2130858010
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9406C>T (p.Leu3136Phe) rs1815131065
NM_152564.5(VPS13B):c.9409C>G (p.Pro3137Ala)
NM_152564.5(VPS13B):c.9409C>T (p.Pro3137Ser)
NM_152564.5(VPS13B):c.9440A>C (p.Gln3147Pro)
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr) rs1815134599
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) rs1588761583
NM_152564.5(VPS13B):c.9493C>T (p.Pro3165Ser)
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu) rs1815137390
NM_152564.5(VPS13B):c.9503G>A (p.Gly3168Asp)
NM_152564.5(VPS13B):c.9513C>G (p.Ser3171Arg) rs2130858288
NM_152564.5(VPS13B):c.9517C>T (p.Gln3173Ter) rs1554573990
NM_152564.5(VPS13B):c.9528C>G (p.Ser3176Arg) rs771505935
NM_152564.5(VPS13B):c.9535G>T (p.Ala3179Ser) rs2130858328
NM_152564.5(VPS13B):c.9539T>C (p.Ile3180Thr)
NM_152564.5(VPS13B):c.9572C>G (p.Ala3191Gly) rs1815140494
NM_152564.5(VPS13B):c.9584G>T (p.Gly3195Val) rs1815141428
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.9615G>T (p.Arg3205Ser)
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
NM_152564.5(VPS13B):c.9623T>C (p.Val3208Ala) rs1563499365
NM_152564.5(VPS13B):c.9655T>C (p.Tyr3219His) rs2130865452
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala)
NM_152564.5(VPS13B):c.9662C>A (p.Thr3221Asn) rs143852398
NM_152564.5(VPS13B):c.9682C>A (p.Pro3228Thr)
NM_152564.5(VPS13B):c.968A>G (p.Gln323Arg) rs1847916430
NM_152564.5(VPS13B):c.9697C>G (p.His3233Asp) rs1815326772
NM_152564.5(VPS13B):c.9699C>A (p.His3233Gln)
NM_152564.5(VPS13B):c.9706T>C (p.Cys3236Arg) rs1815327230
NM_152564.5(VPS13B):c.971A>G (p.Tyr324Cys)
NM_152564.5(VPS13B):c.973C>G (p.Pro325Ala) rs1161857930
NM_152564.5(VPS13B):c.9742+3A>G rs375183964
NM_152564.5(VPS13B):c.9742+5G>A
NM_152564.5(VPS13B):c.9742G>A (p.Asp3248Asn) rs774374731
NM_152564.5(VPS13B):c.9756T>G (p.Phe3252Leu)
NM_152564.5(VPS13B):c.9760G>A (p.Val3254Ile)
NM_152564.5(VPS13B):c.9775A>C (p.Ile3259Leu) rs1425945549
NM_152564.5(VPS13B):c.9776T>C (p.Ile3259Thr) rs1815347853
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys) rs1372759268
NM_152564.5(VPS13B):c.9824G>T (p.Ser3275Ile) rs1815351031
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys)
NM_152564.5(VPS13B):c.9827A>T (p.Tyr3276Phe) rs563162284
NM_152564.5(VPS13B):c.9832G>C (p.Asp3278His)
NM_152564.5(VPS13B):c.984T>A (p.His328Gln)
NM_152564.5(VPS13B):c.9856C>G (p.Pro3286Ala)
NM_152564.5(VPS13B):c.9860G>A (p.Ser3287Asn)
NM_152564.5(VPS13B):c.986A>C (p.Lys329Thr) rs1195441250
NM_152564.5(VPS13B):c.988G>A (p.Gly330Ser)
NM_152564.5(VPS13B):c.9911A>G (p.Asp3304Gly) rs2130866768
NM_152564.5(VPS13B):c.9920A>G (p.Asp3307Gly)
NM_152564.5(VPS13B):c.9942+4A>C
NM_152564.5(VPS13B):c.9942+4A>G rs772319548
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734
NM_152564.5(VPS13B):c.994G>C (p.Glu332Gln)
NM_152564.5(VPS13B):c.995A>G (p.Glu332Gly)
NM_152564.5(VPS13B):c.9974A>G (p.Tyr3325Cys)
NM_152564.5(VPS13B):c.9985G>C (p.Val3329Leu)

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