ClinVar Miner

List of variants in gene VPS13A reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_033305.3(VPS13A):c.8016G>C (p.Lys2672Asn) rs77984203 0.00100
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00057
NM_033305.3(VPS13A):c.1750A>G (p.Ile584Val) rs144871320 0.00056
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_033305.3(VPS13A):c.6500G>A (p.Ser2167Asn) rs138417091 0.00029
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) rs145686832 0.00026
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) rs552113529 0.00015
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) rs189718498 0.00014
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) rs145398548 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067 0.00011
NM_033305.3(VPS13A):c.1150G>A (p.Val384Met) rs139444683 0.00010
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met) rs151129933 0.00010
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) rs146265794 0.00009
NM_033305.3(VPS13A):c.398C>T (p.Pro133Leu) rs202090510 0.00009
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val) rs143067406 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) rs200755494 0.00008
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro) rs148227344 0.00007
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) rs371055567 0.00007
NM_033305.3(VPS13A):c.6179G>A (p.Gly2060Asp) rs376686297 0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) rs758912053 0.00006
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.9465G>C (p.Glu3155Asp) rs200351756 0.00005
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val) rs369818421 0.00004
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys) rs141164942 0.00004
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) rs574650880 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665 0.00003
NM_033305.3(VPS13A):c.2667+4G>A rs748465954 0.00003
NM_033305.3(VPS13A):c.2831A>G (p.Asn944Ser) rs774168415 0.00003
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) rs201208791 0.00003
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser) rs768641511 0.00003
NM_033305.3(VPS13A):c.1324A>G (p.Thr442Ala) rs767220287 0.00002
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser) rs764645153 0.00002
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) rs770035274 0.00002
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) rs781398633 0.00002
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn) rs769409983 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7645A>G (p.Ile2549Val) rs966562429 0.00002
NM_033305.3(VPS13A):c.7868G>A (p.Arg2623Gln) rs765235573 0.00002
NM_033305.3(VPS13A):c.8830A>G (p.Lys2944Glu) rs776346441 0.00002
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00001
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val) rs368157358 0.00001
NM_033305.3(VPS13A):c.3322A>G (p.Thr1108Ala) rs751155999 0.00001
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) rs527418139 0.00001
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) rs781501141 0.00001
NM_033305.3(VPS13A):c.4235C>T (p.Pro1412Leu) rs1310170835 0.00001
NM_033305.3(VPS13A):c.4553C>A (p.Ala1518Glu) rs747128181 0.00001
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser) rs72744294 0.00001
NM_033305.3(VPS13A):c.5307G>T (p.Glu1769Asp) rs765874351 0.00001
NM_033305.3(VPS13A):c.5340T>G (p.Gly1780=) rs745891519 0.00001
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059 0.00001
NM_033305.3(VPS13A):c.5933T>A (p.Val1978Asp) rs778434080 0.00001
NM_033305.3(VPS13A):c.5978G>A (p.Arg1993His) rs769890530 0.00001
NM_033305.3(VPS13A):c.6096-3C>A rs753054165 0.00001
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys) rs752509925 0.00001
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) rs754391863 0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) rs763311249 0.00001
NM_033305.3(VPS13A):c.7116C>G (p.Asn2372Lys) rs768898784 0.00001
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) rs1438436648 0.00001
NM_033305.3(VPS13A):c.7288A>C (p.Ser2430Arg) rs780622922 0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.7690G>A (p.Ala2564Thr) rs1002740657 0.00001
NM_033305.3(VPS13A):c.7705A>G (p.Met2569Val) rs770600544 0.00001
NM_033305.3(VPS13A):c.7795A>G (p.Thr2599Ala) rs1321712506 0.00001
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818 0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) rs780530847 0.00001
NM_033305.3(VPS13A):c.8324A>T (p.Lys2775Met) rs760798467 0.00001
NM_033305.3(VPS13A):c.8333T>C (p.Leu2778Ser) rs1216728056 0.00001
NM_033305.3(VPS13A):c.9028A>G (p.Thr3010Ala) rs759236506 0.00001
NM_033305.3(VPS13A):c.9148C>T (p.Pro3050Ser) rs1227181918 0.00001
GRCh37/hg19 9q21.2(chr9:79706373-79971001)x3
GRCh37/hg19 9q21.2(chr9:79913779-79961377)x3
GRCh37/hg19 9q21.2(chr9:79939063-80037901)x1
NC_000009.11:g.(?_80030862)_(80030932_?)dup
NM_033305.3(VPS13A):c.1006C>T (p.His336Tyr)
NM_033305.3(VPS13A):c.1007A>G (p.His336Arg)
NM_033305.3(VPS13A):c.1012G>T (p.Val338Phe)
NM_033305.3(VPS13A):c.1036A>G (p.Arg346Gly)
NM_033305.3(VPS13A):c.1075A>T (p.Arg359Trp)
NM_033305.3(VPS13A):c.1132C>T (p.Pro378Ser)
NM_033305.3(VPS13A):c.1211C>T (p.Thr404Met)
NM_033305.3(VPS13A):c.1275G>T (p.Glu425Asp)
NM_033305.3(VPS13A):c.1325C>T (p.Thr442Ile) rs2131195757
NM_033305.3(VPS13A):c.1330G>C (p.Glu444Gln)
NM_033305.3(VPS13A):c.1342G>C (p.Asp448His)
NM_033305.3(VPS13A):c.1438A>G (p.Thr480Ala)
NM_033305.3(VPS13A):c.144+3A>G rs2131103455
NM_033305.3(VPS13A):c.1478A>G (p.His493Arg)
NM_033305.3(VPS13A):c.1498G>T (p.Val500Phe) rs776549674
NM_033305.3(VPS13A):c.1523C>T (p.Pro508Leu)
NM_033305.3(VPS13A):c.1538T>C (p.Ile513Thr)
NM_033305.3(VPS13A):c.1556G>C (p.Ser519Thr)
NM_033305.3(VPS13A):c.1627A>C (p.Thr543Pro)
NM_033305.3(VPS13A):c.1658G>A (p.Arg553His)
NM_033305.3(VPS13A):c.1687T>C (p.Ser563Pro)
NM_033305.3(VPS13A):c.172A>C (p.Lys58Gln)
NM_033305.3(VPS13A):c.1776A>G (p.Ile592Met)
NM_033305.3(VPS13A):c.1795A>G (p.Asn599Asp)
NM_033305.3(VPS13A):c.1829A>T (p.Glu610Val)
NM_033305.3(VPS13A):c.1882C>T (p.Arg628Cys)
NM_033305.3(VPS13A):c.1883G>A (p.Arg628His) rs765358211
NM_033305.3(VPS13A):c.1886G>C (p.Ser629Thr)
NM_033305.3(VPS13A):c.1897A>G (p.Thr633Ala)
NM_033305.3(VPS13A):c.1958C>T (p.Ala653Val)
NM_033305.3(VPS13A):c.1966A>G (p.Ile656Val)
NM_033305.3(VPS13A):c.196A>G (p.Lys66Glu)
NM_033305.3(VPS13A):c.1994G>T (p.Ser665Ile)
NM_033305.3(VPS13A):c.2021A>G (p.Asp674Gly)
NM_033305.3(VPS13A):c.2029C>T (p.His677Tyr)
NM_033305.3(VPS13A):c.2042C>T (p.Thr681Met)
NM_033305.3(VPS13A):c.2051G>C (p.Ser684Thr)
NM_033305.3(VPS13A):c.2054G>T (p.Arg685Leu)
NM_033305.3(VPS13A):c.2090A>G (p.Asn697Ser)
NM_033305.3(VPS13A):c.2092C>A (p.Leu698Ile) rs2131267341
NM_033305.3(VPS13A):c.2096A>G (p.Lys699Arg)
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) rs1389344705
NM_033305.3(VPS13A):c.2198T>C (p.Leu733Pro)
NM_033305.3(VPS13A):c.2215C>G (p.His739Asp)
NM_033305.3(VPS13A):c.2230A>G (p.Met744Val)
NM_033305.3(VPS13A):c.2233C>T (p.His745Tyr) rs1825187021
NM_033305.3(VPS13A):c.223T>C (p.Tyr75His)
NM_033305.3(VPS13A):c.2268C>A (p.Phe756Leu)
NM_033305.3(VPS13A):c.2276T>C (p.Val759Ala)
NM_033305.3(VPS13A):c.2287A>G (p.Lys763Glu) rs2131272146
NM_033305.3(VPS13A):c.2288A>G (p.Lys763Arg) rs749375820
NM_033305.3(VPS13A):c.2312C>T (p.Pro771Leu) rs753944590
NM_033305.3(VPS13A):c.2337T>A (p.Asp779Glu)
NM_033305.3(VPS13A):c.2382A>T (p.Lys794Asn)
NM_033305.3(VPS13A):c.2392G>C (p.Val798Leu)
NM_033305.3(VPS13A):c.2399A>C (p.Glu800Ala)
NM_033305.3(VPS13A):c.2416A>G (p.Lys806Glu)
NM_033305.3(VPS13A):c.2427+4A>T
NM_033305.3(VPS13A):c.2429T>C (p.Ile810Thr)
NM_033305.3(VPS13A):c.2500G>A (p.Val834Ile)
NM_033305.3(VPS13A):c.2500G>C (p.Val834Leu) rs201567434
NM_033305.3(VPS13A):c.2513-3T>G
NM_033305.3(VPS13A):c.2590A>G (p.Ile864Val)
NM_033305.3(VPS13A):c.2607_2615del (p.Gln870_Gln872del)
NM_033305.3(VPS13A):c.2607_2616delinsC (p.Leu869_Gln872delinsPhe)
NM_033305.3(VPS13A):c.2698G>T (p.Asp900Tyr)
NM_033305.3(VPS13A):c.26A>G (p.Asp9Gly)
NM_033305.3(VPS13A):c.2706A>T (p.Glu902Asp)
NM_033305.3(VPS13A):c.2747A>C (p.Glu916Ala)
NM_033305.3(VPS13A):c.2767G>A (p.Asp923Asn)
NM_033305.3(VPS13A):c.2779A>G (p.Asn927Asp) rs2131332649
NM_033305.3(VPS13A):c.2823G>A (p.Leu941=)
NM_033305.3(VPS13A):c.2825A>T (p.Asp942Val)
NM_033305.3(VPS13A):c.2835_2837del (p.Lys946del)
NM_033305.3(VPS13A):c.2888C>T (p.Thr963Met)
NM_033305.3(VPS13A):c.2905-3T>C
NM_033305.3(VPS13A):c.2917G>A (p.Val973Ile)
NM_033305.3(VPS13A):c.2923G>A (p.Asp975Asn)
NM_033305.3(VPS13A):c.2970T>A (p.Asn990Lys)
NM_033305.3(VPS13A):c.2984A>G (p.Asp995Gly)
NM_033305.3(VPS13A):c.3028C>G (p.Leu1010Val)
NM_033305.3(VPS13A):c.3049T>A (p.Ser1017Thr)
NM_033305.3(VPS13A):c.317A>G (p.Gln106Arg)
NM_033305.3(VPS13A):c.3243T>C (p.Asp1081=)
NM_033305.3(VPS13A):c.3293G>A (p.Arg1098Lys)
NM_033305.3(VPS13A):c.3328A>G (p.Ile1110Val)
NM_033305.3(VPS13A):c.3332A>G (p.Tyr1111Cys)
NM_033305.3(VPS13A):c.3406G>A (p.Gly1136Ser)
NM_033305.3(VPS13A):c.3419C>T (p.Thr1140Ile)
NM_033305.3(VPS13A):c.3449A>G (p.Asn1150Ser)
NM_033305.3(VPS13A):c.3478T>G (p.Phe1160Val)
NM_033305.3(VPS13A):c.3481G>C (p.Val1161Leu)
NM_033305.3(VPS13A):c.3502A>G (p.Ile1168Val)
NM_033305.3(VPS13A):c.3524T>C (p.Phe1175Ser)
NM_033305.3(VPS13A):c.3541G>A (p.Ala1181Thr)
NM_033305.3(VPS13A):c.3578C>T (p.Ala1193Val)
NM_033305.3(VPS13A):c.359A>C (p.Glu120Ala)
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) rs1172751806
NM_033305.3(VPS13A):c.3753C>G (p.Ser1251Arg)
NM_033305.3(VPS13A):c.3770T>C (p.Ile1257Thr)
NM_033305.3(VPS13A):c.3780_3782delinsGAT (p.Ile1260_Thr1261delinsMetIle) rs2131376645
NM_033305.3(VPS13A):c.3781A>G (p.Thr1261Ala)
NM_033305.3(VPS13A):c.3784A>G (p.Ile1262Val)
NM_033305.3(VPS13A):c.3800T>C (p.Met1267Thr)
NM_033305.3(VPS13A):c.3803G>A (p.Arg1268Gln)
NM_033305.3(VPS13A):c.3827A>G (p.Asn1276Ser)
NM_033305.3(VPS13A):c.386-7A>G
NM_033305.3(VPS13A):c.3893A>G (p.Asn1298Ser)
NM_033305.3(VPS13A):c.3932A>C (p.Asn1311Thr)
NM_033305.3(VPS13A):c.3934G>A (p.Val1312Ile)
NM_033305.3(VPS13A):c.3935T>C (p.Val1312Ala)
NM_033305.3(VPS13A):c.3988A>G (p.Thr1330Ala)
NM_033305.3(VPS13A):c.4031A>G (p.Asp1344Gly)
NM_033305.3(VPS13A):c.4063C>G (p.Gln1355Glu)
NM_033305.3(VPS13A):c.4070G>T (p.Ser1357Ile)
NM_033305.3(VPS13A):c.4075A>G (p.Thr1359Ala)
NM_033305.3(VPS13A):c.4102C>A (p.His1368Asn)
NM_033305.3(VPS13A):c.4111G>A (p.Gly1371Arg)
NM_033305.3(VPS13A):c.4129A>G (p.Thr1377Ala)
NM_033305.3(VPS13A):c.4130C>T (p.Thr1377Ile)
NM_033305.3(VPS13A):c.413C>G (p.Thr138Ser)
NM_033305.3(VPS13A):c.4157G>A (p.Arg1386His)
NM_033305.3(VPS13A):c.4157G>C (p.Arg1386Pro)
NM_033305.3(VPS13A):c.4165C>G (p.Leu1389Val)
NM_033305.3(VPS13A):c.4186A>T (p.Ile1396Leu)
NM_033305.3(VPS13A):c.4265A>G (p.Asp1422Gly)
NM_033305.3(VPS13A):c.4273C>G (p.Leu1425Val) rs776796376
NM_033305.3(VPS13A):c.4332T>A (p.Asp1444Glu)
NM_033305.3(VPS13A):c.4333G>A (p.Gly1445Ser)
NM_033305.3(VPS13A):c.4349C>T (p.Ser1450Phe)
NM_033305.3(VPS13A):c.4357T>A (p.Leu1453Ile)
NM_033305.3(VPS13A):c.4406C>T (p.Thr1469Ile)
NM_033305.3(VPS13A):c.4412+3A>G
NM_033305.3(VPS13A):c.4412G>A (p.Arg1471Gln)
NM_033305.3(VPS13A):c.4430T>C (p.Val1477Ala)
NM_033305.3(VPS13A):c.4514T>C (p.Met1505Thr)
NM_033305.3(VPS13A):c.4531G>A (p.Val1511Ile)
NM_033305.3(VPS13A):c.4541T>G (p.Leu1514Arg) rs1209643081
NM_033305.3(VPS13A):c.4589C>T (p.Ala1530Val)
NM_033305.3(VPS13A):c.4625AAG[1] (p.Glu1543del)
NM_033305.3(VPS13A):c.4672A>G (p.Ile1558Val)
NM_033305.3(VPS13A):c.472A>G (p.Ile158Val)
NM_033305.3(VPS13A):c.4735A>G (p.Ile1579Val)
NM_033305.3(VPS13A):c.4759T>C (p.Tyr1587His)
NM_033305.3(VPS13A):c.4785_4787del (p.Met1596del)
NM_033305.3(VPS13A):c.478A>G (p.Ile160Val)
NM_033305.3(VPS13A):c.4811A>G (p.Gln1604Arg)
NM_033305.3(VPS13A):c.4834C>G (p.Pro1612Ala)
NM_033305.3(VPS13A):c.4881C>G (p.Asp1627Glu)
NM_033305.3(VPS13A):c.4906G>A (p.Gly1636Ser)
NM_033305.3(VPS13A):c.4972A>G (p.Ile1658Val)
NM_033305.3(VPS13A):c.5014A>G (p.Lys1672Glu)
NM_033305.3(VPS13A):c.5029G>A (p.Glu1677Lys)
NM_033305.3(VPS13A):c.503A>T (p.Asn168Ile)
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) rs1181531896
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) rs139380985
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del) rs753852395
NM_033305.3(VPS13A):c.5131C>G (p.Pro1711Ala)
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=) rs1829532281
NM_033305.3(VPS13A):c.5158G>A (p.Glu1720Lys)
NM_033305.3(VPS13A):c.5230A>G (p.Met1744Val)
NM_033305.3(VPS13A):c.5289T>G (p.Asn1763Lys)
NM_033305.3(VPS13A):c.5327A>G (p.Asn1776Ser)
NM_033305.3(VPS13A):c.5374G>T (p.Asp1792Tyr)
NM_033305.3(VPS13A):c.5408G>A (p.Gly1803Asp) rs1357569109
NM_033305.3(VPS13A):c.5410A>G (p.Ile1804Val)
NM_033305.3(VPS13A):c.5497A>T (p.Ile1833Phe)
NM_033305.3(VPS13A):c.555+4T>G
NM_033305.3(VPS13A):c.5614G>A (p.Val1872Ile)
NM_033305.3(VPS13A):c.5663T>G (p.Ile1888Ser)
NM_033305.3(VPS13A):c.5672C>T (p.Ser1891Leu)
NM_033305.3(VPS13A):c.5758A>G (p.Ile1920Val)
NM_033305.3(VPS13A):c.5824CTT[1] (p.Leu1943del)
NM_033305.3(VPS13A):c.5831-3del
NM_033305.3(VPS13A):c.5855A>C (p.Asp1952Ala)
NM_033305.3(VPS13A):c.5875G>A (p.Val1959Met)
NM_033305.3(VPS13A):c.5885G>A (p.Arg1962His)
NM_033305.3(VPS13A):c.5930T>A (p.Ile1977Asn)
NM_033305.3(VPS13A):c.5931T>G (p.Ile1977Met)
NM_033305.3(VPS13A):c.5944G>C (p.Asp1982His)
NM_033305.3(VPS13A):c.5961T>G (p.Ser1987Arg)
NM_033305.3(VPS13A):c.6019T>C (p.Ser2007Pro) rs866281197
NM_033305.3(VPS13A):c.6035A>G (p.Asp2012Gly)
NM_033305.3(VPS13A):c.6038C>G (p.Thr2013Ser)
NM_033305.3(VPS13A):c.6079C>A (p.Pro2027Thr)
NM_033305.3(VPS13A):c.6079C>G (p.Pro2027Ala)
NM_033305.3(VPS13A):c.6156T>G (p.Phe2052Leu)
NM_033305.3(VPS13A):c.6167T>C (p.Ile2056Thr)
NM_033305.3(VPS13A):c.6208A>G (p.Lys2070Glu)
NM_033305.3(VPS13A):c.6214C>T (p.Pro2072Ser)
NM_033305.3(VPS13A):c.6220A>G (p.Lys2074Glu)
NM_033305.3(VPS13A):c.6251A>C (p.Glu2084Ala) rs2131498790
NM_033305.3(VPS13A):c.6253A>G (p.Lys2085Glu)
NM_033305.3(VPS13A):c.6254A>G (p.Lys2085Arg)
NM_033305.3(VPS13A):c.6272T>C (p.Leu2091Pro)
NM_033305.3(VPS13A):c.6308A>G (p.Tyr2103Cys)
NM_033305.3(VPS13A):c.6317A>G (p.His2106Arg)
NM_033305.3(VPS13A):c.6341G>A (p.Arg2114Gln) rs367713644
NM_033305.3(VPS13A):c.6371A>G (p.Tyr2124Cys)
NM_033305.3(VPS13A):c.6422C>T (p.Ala2141Val)
NM_033305.3(VPS13A):c.6425A>G (p.Gln2142Arg)
NM_033305.3(VPS13A):c.6461A>G (p.His2154Arg)
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) rs1826073644
NM_033305.3(VPS13A):c.6517C>T (p.Pro2173Ser)
NM_033305.3(VPS13A):c.6601A>T (p.Thr2201Ser)
NM_033305.3(VPS13A):c.6608A>G (p.Asn2203Ser) rs769295188
NM_033305.3(VPS13A):c.6634C>T (p.His2212Tyr)
NM_033305.3(VPS13A):c.6649A>G (p.Met2217Val)
NM_033305.3(VPS13A):c.6667C>A (p.Arg2223Ser)
NM_033305.3(VPS13A):c.6691G>A (p.Gly2231Arg)
NM_033305.3(VPS13A):c.6699T>G (p.His2233Gln)
NM_033305.3(VPS13A):c.6712C>T (p.Pro2238Ser)
NM_033305.3(VPS13A):c.6771_6773del (p.Asn2257del)
NM_033305.3(VPS13A):c.6778C>G (p.Gln2260Glu)
NM_033305.3(VPS13A):c.6797G>C (p.Ser2266Thr)
NM_033305.3(VPS13A):c.6820A>G (p.Ile2274Val)
NM_033305.3(VPS13A):c.6829G>A (p.Val2277Ile) rs1247708553
NM_033305.3(VPS13A):c.6859G>C (p.Gly2287Arg)
NM_033305.3(VPS13A):c.6867A>T (p.Lys2289Asn) rs2131507554
NM_033305.3(VPS13A):c.6918T>C (p.Thr2306=)
NM_033305.3(VPS13A):c.6971A>G (p.His2324Arg)
NM_033305.3(VPS13A):c.7000A>G (p.Lys2334Glu)
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7051G>A (p.Ala2351Thr)
NM_033305.3(VPS13A):c.7054T>C (p.Ser2352Pro)
NM_033305.3(VPS13A):c.7105A>T (p.Ile2369Leu)
NM_033305.3(VPS13A):c.7109A>G (p.Tyr2370Cys)
NM_033305.3(VPS13A):c.7117A>C (p.Lys2373Gln)
NM_033305.3(VPS13A):c.7141C>T (p.Arg2381Cys)
NM_033305.3(VPS13A):c.7165A>G (p.Ile2389Val)
NM_033305.3(VPS13A):c.7193A>G (p.His2398Arg)
NM_033305.3(VPS13A):c.7201G>A (p.Val2401Ile)
NM_033305.3(VPS13A):c.7207A>G (p.Thr2403Ala)
NM_033305.3(VPS13A):c.7226A>G (p.Asp2409Gly)
NM_033305.3(VPS13A):c.7265A>G (p.Asn2422Ser)
NM_033305.3(VPS13A):c.7289+6A>C
NM_033305.3(VPS13A):c.7295T>C (p.Leu2432Pro)
NM_033305.3(VPS13A):c.7301A>T (p.Glu2434Val)
NM_033305.3(VPS13A):c.730A>G (p.Ile244Val)
NM_033305.3(VPS13A):c.7325_7333del (p.Gly2442_Ala2444del)
NM_033305.3(VPS13A):c.7405G>A (p.Val2469Ile) rs138388433
NM_033305.3(VPS13A):c.7441T>G (p.Leu2481Val)
NM_033305.3(VPS13A):c.7448A>G (p.Glu2483Gly)
NM_033305.3(VPS13A):c.7476T>G (p.Phe2492Leu)
NM_033305.3(VPS13A):c.760C>T (p.Arg254Cys)
NM_033305.3(VPS13A):c.7619C>T (p.Thr2540Met)
NM_033305.3(VPS13A):c.7637A>T (p.Tyr2546Phe)
NM_033305.3(VPS13A):c.7765_7767del (p.Pro2589del)
NM_033305.3(VPS13A):c.7804C>G (p.Pro2602Ala)
NM_033305.3(VPS13A):c.7810C>T (p.Arg2604Cys)
NM_033305.3(VPS13A):c.7822A>G (p.Thr2608Ala) rs1298057938
NM_033305.3(VPS13A):c.7837A>G (p.Lys2613Glu)
NM_033305.3(VPS13A):c.787G>T (p.Val263Leu)
NM_033305.3(VPS13A):c.7905C>G (p.Asn2635Lys)
NM_033305.3(VPS13A):c.7913C>T (p.Ala2638Val)
NM_033305.3(VPS13A):c.7945A>G (p.Arg2649Gly)
NM_033305.3(VPS13A):c.7958A>C (p.Gln2653Pro)
NM_033305.3(VPS13A):c.7969C>T (p.His2657Tyr)
NM_033305.3(VPS13A):c.8009C>T (p.Pro2670Leu) rs1362143170
NM_033305.3(VPS13A):c.8018C>T (p.Ser2673Leu)
NM_033305.3(VPS13A):c.8070G>A (p.Met2690Ile)
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
NM_033305.3(VPS13A):c.8137C>G (p.Leu2713Val)
NM_033305.3(VPS13A):c.8166_8168dup (p.Ala2722_Leu2723insPhe)
NM_033305.3(VPS13A):c.8182A>G (p.Thr2728Ala)
NM_033305.3(VPS13A):c.8189C>T (p.Ala2730Val)
NM_033305.3(VPS13A):c.8311A>G (p.Ile2771Val)
NM_033305.3(VPS13A):c.8341T>A (p.Ser2781Thr)
NM_033305.3(VPS13A):c.8357G>C (p.Arg2786Thr)
NM_033305.3(VPS13A):c.8377A>C (p.Lys2793Gln)
NM_033305.3(VPS13A):c.8395A>G (p.Ile2799Val)
NM_033305.3(VPS13A):c.8404C>T (p.His2802Tyr)
NM_033305.3(VPS13A):c.8522A>G (p.Gln2841Arg)
NM_033305.3(VPS13A):c.8540A>G (p.His2847Arg)
NM_033305.3(VPS13A):c.8557A>C (p.Ile2853Leu)
NM_033305.3(VPS13A):c.8588T>C (p.Leu2863Pro) rs986562076
NM_033305.3(VPS13A):c.8619T>G (p.Ile2873Met)
NM_033305.3(VPS13A):c.8638G>A (p.Val2880Ile)
NM_033305.3(VPS13A):c.865G>A (p.Glu289Lys)
NM_033305.3(VPS13A):c.8677C>A (p.Gln2893Lys)
NM_033305.3(VPS13A):c.8759C>T (p.Ala2920Val) rs750896320
NM_033305.3(VPS13A):c.876A>C (p.Lys292Asn)
NM_033305.3(VPS13A):c.8773A>T (p.Thr2925Ser) rs2131587579
NM_033305.3(VPS13A):c.8820C>G (p.Asp2940Glu)
NM_033305.3(VPS13A):c.8864G>A (p.Gly2955Asp)
NM_033305.3(VPS13A):c.8870G>A (p.Arg2957Lys)
NM_033305.3(VPS13A):c.8891G>A (p.Gly2964Glu)
NM_033305.3(VPS13A):c.8923A>G (p.Ile2975Val)
NM_033305.3(VPS13A):c.8939C>T (p.Thr2980Ile)
NM_033305.3(VPS13A):c.8954-3C>T
NM_033305.3(VPS13A):c.9013G>A (p.Ala3005Thr)
NM_033305.3(VPS13A):c.9077G>C (p.Arg3026Thr)
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9197A>G (p.Glu3066Gly)
NM_033305.3(VPS13A):c.925G>A (p.Ala309Thr)
NM_033305.3(VPS13A):c.9301A>T (p.Thr3101Ser)
NM_033305.3(VPS13A):c.9317C>T (p.Thr3106Met)
NM_033305.3(VPS13A):c.932A>C (p.Asn311Thr)
NM_033305.3(VPS13A):c.9371A>G (p.His3124Arg)
NM_033305.3(VPS13A):c.9463G>A (p.Glu3155Lys)
NM_033305.3(VPS13A):c.9475-1G>A rs2131675930
NM_033305.3(VPS13A):c.9475-3_9500dup rs2131675925
NM_033305.3(VPS13A):c.9515C>T (p.Pro3172Leu)
NM_033305.3(VPS13A):c.989+28del rs751974264

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