ClinVar Miner

List of variants reported as uncertain significance for Vici syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 748
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe) rs200364337 0.00051
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln) rs200151675 0.00050
NM_020964.3(EPG5):c.3898G>A (p.Val1300Ile) rs201495638 0.00041
NM_020964.3(EPG5):c.5680A>G (p.Ile1894Val) rs138221907 0.00041
NM_020964.3(EPG5):c.6787C>G (p.His2263Asp) rs201639757 0.00036
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln) rs200079588 0.00035
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268 0.00030
NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp) rs78690150 0.00029
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994 0.00028
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile) rs369120436 0.00026
NM_020964.3(EPG5):c.31G>A (p.Ala11Thr) rs375661582 0.00023
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile) rs377499566 0.00022
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly) rs372382701 0.00022
NM_020964.3(EPG5):c.4154C>G (p.Ser1385Cys) rs200040634 0.00021
NM_020964.3(EPG5):c.4522C>T (p.Pro1508Ser) rs199718702 0.00021
NM_020964.3(EPG5):c.3055A>G (p.Ile1019Val) rs373402310 0.00020
NM_020964.3(EPG5):c.7152C>A (p.Asn2384Lys) rs201507415 0.00020
NM_020964.3(EPG5):c.4222A>G (p.Ile1408Val) rs369984684 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr) rs201213000 0.00019
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys) rs200744548 0.00018
NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile) rs370311674 0.00017
NM_020964.3(EPG5):c.494C>T (p.Pro165Leu) rs201402291 0.00016
NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met) rs188800635 0.00016
NM_020964.3(EPG5):c.3968C>T (p.Pro1323Leu) rs143970247 0.00014
NM_020964.3(EPG5):c.65A>C (p.Glu22Ala) rs775124308 0.00014
NM_020964.3(EPG5):c.6256T>G (p.Leu2086Val) rs200152090 0.00013
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142 0.00013
NM_020964.3(EPG5):c.1830G>A (p.Met610Ile) rs200214318 0.00012
NM_020964.3(EPG5):c.2718+3A>G rs374002995 0.00012
NM_020964.3(EPG5):c.2618C>T (p.Ala873Val) rs201678945 0.00011
NM_020964.3(EPG5):c.424G>A (p.Glu142Lys) rs190673127 0.00011
NM_020964.3(EPG5):c.6765C>T (p.Pro2255=) rs200203116 0.00011
NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val) rs200754523 0.00011
NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg) rs137887553 0.00011
NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys) rs374158728 0.00010
NM_020964.3(EPG5):c.167A>G (p.Lys56Arg) rs761554872 0.00009
NM_020964.3(EPG5):c.2332A>G (p.Thr778Ala) rs201694766 0.00009
NM_020964.3(EPG5):c.350C>T (p.Ala117Val) rs372840001 0.00009
NM_020964.3(EPG5):c.3791C>T (p.Ala1264Val) rs374324769 0.00009
NM_020964.3(EPG5):c.4597G>A (p.Ala1533Thr) rs374899586 0.00009
NM_020964.3(EPG5):c.4766G>A (p.Ser1589Asn) rs201062477 0.00009
NM_020964.3(EPG5):c.6292G>T (p.Val2098Phe) rs377726262 0.00009
NM_020964.3(EPG5):c.1119G>T (p.Glu373Asp) rs371484691 0.00008
NM_020964.3(EPG5):c.1252+5G>C rs375372125 0.00008
NM_020964.3(EPG5):c.407A>G (p.Lys136Arg) rs199571302 0.00008
NM_020964.3(EPG5):c.4517C>T (p.Pro1506Leu) rs751816092 0.00008
NM_020964.3(EPG5):c.4747C>T (p.His1583Tyr) rs535029628 0.00007
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln) rs142601828 0.00006
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113 0.00006
NM_020964.3(EPG5):c.1948A>G (p.Thr650Ala) rs371884344 0.00006
NM_020964.3(EPG5):c.3002C>T (p.Thr1001Ile) rs369506924 0.00006
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00006
NM_020964.3(EPG5):c.4360C>T (p.Arg1454Cys) rs550924483 0.00006
NM_020964.3(EPG5):c.5210A>G (p.Asn1737Ser) rs201509640 0.00006
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg) rs369070714 0.00006
NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn) rs200967600 0.00006
NM_020964.3(EPG5):c.1009G>A (p.Gly337Ser) rs1195446026 0.00005
NM_020964.3(EPG5):c.1043A>G (p.Tyr348Cys) rs761594653 0.00005
NM_020964.3(EPG5):c.1894A>G (p.Asn632Asp) rs765831533 0.00005
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00005
NM_020964.3(EPG5):c.2812G>A (p.Gly938Arg) rs773907627 0.00005
NM_020964.3(EPG5):c.3286C>T (p.Pro1096Ser) rs199524137 0.00005
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His) rs201545867 0.00005
NM_020964.3(EPG5):c.4861C>T (p.Arg1621Trp) rs566219944 0.00005
NM_020964.3(EPG5):c.5525C>T (p.Ala1842Val) rs367619633 0.00005
NM_020964.3(EPG5):c.5945G>A (p.Ser1982Asn) rs377447365 0.00005
NM_020964.3(EPG5):c.6044T>C (p.Phe2015Ser) rs756154171 0.00005
NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly) rs764464544 0.00005
NM_020964.3(EPG5):c.6526A>G (p.Ile2176Val) rs201095962 0.00005
NM_020964.3(EPG5):c.1396G>A (p.Val466Met) rs370669049 0.00004
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619 0.00004
NM_020964.3(EPG5):c.1579G>A (p.Ala527Thr) rs769029039 0.00004
NM_020964.3(EPG5):c.2176C>T (p.Leu726Phe) rs779316506 0.00004
NM_020964.3(EPG5):c.2187G>C (p.Gln729His) rs575623740 0.00004
NM_020964.3(EPG5):c.2350C>G (p.Gln784Glu) rs764959017 0.00004
NM_020964.3(EPG5):c.2702G>T (p.Trp901Leu) rs201315023 0.00004
NM_020964.3(EPG5):c.3047G>A (p.Gly1016Asp) rs946420837 0.00004
NM_020964.3(EPG5):c.328A>G (p.Arg110Gly) rs761327582 0.00004
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg) rs375017695 0.00004
NM_020964.3(EPG5):c.4265A>G (p.Tyr1422Cys) rs1020010664 0.00004
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met) rs746749336 0.00004
NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu) rs375867560 0.00004
NM_020964.3(EPG5):c.484T>C (p.Tyr162His) rs371755239 0.00004
NM_020964.3(EPG5):c.5023A>G (p.Thr1675Ala) rs200776693 0.00004
NM_020964.3(EPG5):c.5057G>A (p.Arg1686His) rs375463159 0.00004
NM_020964.3(EPG5):c.5383G>T (p.Ala1795Ser) rs369731452 0.00004
NM_020964.3(EPG5):c.5735A>C (p.Lys1912Thr) rs754227425 0.00004
NM_020964.3(EPG5):c.5785A>G (p.Thr1929Ala) rs968834469 0.00004
NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile) rs777008903 0.00004
NM_020964.3(EPG5):c.6049+4G>A rs200936655 0.00004
NM_020964.3(EPG5):c.6148G>A (p.Ala2050Thr) rs746878988 0.00004
NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys) rs775329245 0.00004
NM_020964.3(EPG5):c.6521C>T (p.Pro2174Leu) rs775158816 0.00004
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu) rs776541656 0.00004
NM_020964.3(EPG5):c.6769A>G (p.Met2257Val) rs201722679 0.00004
NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile) rs768330083 0.00004
NM_020964.3(EPG5):c.6838G>A (p.Ala2280Thr) rs373340664 0.00004
NM_020964.3(EPG5):c.6877C>T (p.Arg2293Trp) rs180886291 0.00004
NM_020964.3(EPG5):c.7018A>C (p.Asn2340His) rs200080895 0.00004
NM_020964.3(EPG5):c.7082A>C (p.Glu2361Ala) rs374750937 0.00004
NM_020964.3(EPG5):c.968G>T (p.Ser323Ile) rs199732702 0.00004
NM_020964.3(EPG5):c.1250G>A (p.Arg417Gln) rs369094716 0.00003
NM_020964.3(EPG5):c.1511A>C (p.His504Pro) rs754120095 0.00003
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998 0.00003
NM_020964.3(EPG5):c.1811C>G (p.Thr604Arg) rs373011809 0.00003
NM_020964.3(EPG5):c.1903C>T (p.Arg635Cys) rs764895705 0.00003
NM_020964.3(EPG5):c.2662A>G (p.Lys888Glu) rs769833086 0.00003
NM_020964.3(EPG5):c.2710G>A (p.Ala904Thr) rs754355395 0.00003
NM_020964.3(EPG5):c.3020A>T (p.His1007Leu) rs377551412 0.00003
NM_020964.3(EPG5):c.3034G>A (p.Ala1012Thr) rs773390222 0.00003
NM_020964.3(EPG5):c.338T>G (p.Val113Gly) rs772420839 0.00003
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys) rs749547713 0.00003
NM_020964.3(EPG5):c.5110G>A (p.Val1704Ile) rs982203129 0.00003
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp) rs750664406 0.00003
NM_020964.3(EPG5):c.6167G>A (p.Arg2056Gln) rs753386481 0.00003
NM_020964.3(EPG5):c.6568C>T (p.Leu2190Phe) rs1280775043 0.00003
NM_020964.3(EPG5):c.6785G>A (p.Arg2262His) rs375960377 0.00003
NM_020964.3(EPG5):c.6826A>T (p.Met2276Leu) rs748788401 0.00003
NM_020964.3(EPG5):c.688T>G (p.Leu230Val) rs774387511 0.00003
NM_020964.3(EPG5):c.7511G>A (p.Arg2504His) rs979554550 0.00003
NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile) rs777854920 0.00003
NM_020964.3(EPG5):c.974T>G (p.Leu325Arg) rs1181548699 0.00003
NM_020964.3(EPG5):c.995A>G (p.Gln332Arg) rs374633337 0.00003
NM_020964.3(EPG5):c.1045C>T (p.His349Tyr) rs773880955 0.00002
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00002
NM_020964.3(EPG5):c.1612C>T (p.Arg538Trp) rs372785168 0.00002
NM_020964.3(EPG5):c.1782T>G (p.Phe594Leu) rs888785002 0.00002
NM_020964.3(EPG5):c.1814C>T (p.Thr605Ile) rs371526822 0.00002
NM_020964.3(EPG5):c.1943+4A>G rs368879665 0.00002
NM_020964.3(EPG5):c.2181G>A (p.Met727Ile) rs370714624 0.00002
NM_020964.3(EPG5):c.290C>T (p.Thr97Met) rs371113007 0.00002
NM_020964.3(EPG5):c.29_34dup (p.Arg10_Ala11dup) rs2051286087 0.00002
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met) rs890699630 0.00002
NM_020964.3(EPG5):c.3175C>T (p.His1059Tyr) rs200633997 0.00002
NM_020964.3(EPG5):c.320G>A (p.Gly107Glu) rs766983961 0.00002
NM_020964.3(EPG5):c.3307G>T (p.Val1103Phe) rs1037521116 0.00002
NM_020964.3(EPG5):c.3422G>A (p.Gly1141Asp) rs776414813 0.00002
NM_020964.3(EPG5):c.3683C>T (p.Thr1228Met) rs556565796 0.00002
NM_020964.3(EPG5):c.3878G>A (p.Arg1293His) rs781740724 0.00002
NM_020964.3(EPG5):c.3964C>T (p.Arg1322Cys) rs201983775 0.00002
NM_020964.3(EPG5):c.404C>G (p.Pro135Arg) rs773717848 0.00002
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys) rs761064074 0.00002
NM_020964.3(EPG5):c.4521G>C (p.Gln1507His) rs758611855 0.00002
NM_020964.3(EPG5):c.4687G>T (p.Gly1563Cys) rs751554863 0.00002
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser) rs370120497 0.00002
NM_020964.3(EPG5):c.4966G>T (p.Ala1656Ser) rs756852013 0.00002
NM_020964.3(EPG5):c.5109+6G>T rs767652682 0.00002
NM_020964.3(EPG5):c.5213C>T (p.Ala1738Val) rs768237272 0.00002
NM_020964.3(EPG5):c.5432T>G (p.Phe1811Cys) rs759019063 0.00002
NM_020964.3(EPG5):c.6518C>T (p.Pro2173Leu) rs1476353006 0.00002
NM_020964.3(EPG5):c.6623A>G (p.Asp2208Gly) rs1177226409 0.00002
NM_020964.3(EPG5):c.6632C>T (p.Pro2211Leu) rs769830823 0.00002
NM_020964.3(EPG5):c.674G>C (p.Gly225Ala) rs200910594 0.00002
NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly) rs1171989598 0.00002
NM_020964.3(EPG5):c.970C>T (p.Arg324Trp) rs779260764 0.00002
NM_020964.3(EPG5):c.103A>G (p.Ser35Gly) rs746311646 0.00001
NM_020964.3(EPG5):c.1189A>G (p.Ile397Val) rs968213343 0.00001
NM_020964.3(EPG5):c.1312G>A (p.Val438Ile) rs750946464 0.00001
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679 0.00001
NM_020964.3(EPG5):c.1688C>T (p.Pro563Leu) rs1026189696 0.00001
NM_020964.3(EPG5):c.1694C>T (p.Thr565Ile) rs750054758 0.00001
NM_020964.3(EPG5):c.1713T>A (p.Asn571Lys) rs1364153002 0.00001
NM_020964.3(EPG5):c.1873G>T (p.Ala625Ser) rs757958571 0.00001
NM_020964.3(EPG5):c.1904G>A (p.Arg635His) rs761134702 0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val) rs745736928 0.00001
NM_020964.3(EPG5):c.1937T>C (p.Met646Thr) rs776655554 0.00001
NM_020964.3(EPG5):c.1940T>G (p.Ile647Ser) rs770599313 0.00001
NM_020964.3(EPG5):c.1949C>T (p.Thr650Ile) rs1342520686 0.00001
NM_020964.3(EPG5):c.2082T>A (p.His694Gln) rs929769017 0.00001
NM_020964.3(EPG5):c.2107A>G (p.Ile703Val) rs769257326 0.00001
NM_020964.3(EPG5):c.2127G>T (p.Glu709Asp) rs950420567 0.00001
NM_020964.3(EPG5):c.2188G>C (p.Val730Leu) rs376495076 0.00001
NM_020964.3(EPG5):c.2193G>C (p.Glu731Asp) rs1218574370 0.00001
NM_020964.3(EPG5):c.2261C>G (p.Pro754Arg) rs1163010781 0.00001
NM_020964.3(EPG5):c.2348C>T (p.Ala783Val) rs1330678250 0.00001
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342 0.00001
NM_020964.3(EPG5):c.2407T>C (p.Tyr803His) rs762353654 0.00001
NM_020964.3(EPG5):c.2420A>C (p.Tyr807Ser) rs1436830345 0.00001
NM_020964.3(EPG5):c.2443A>T (p.Thr815Ser) rs944929737 0.00001
NM_020964.3(EPG5):c.2494C>G (p.Pro832Ala) rs779658335 0.00001
NM_020964.3(EPG5):c.2509G>A (p.Val837Ile) rs374638575 0.00001
NM_020964.3(EPG5):c.2522G>C (p.Arg841Thr) rs934919689 0.00001
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser) rs368321414 0.00001
NM_020964.3(EPG5):c.2626C>T (p.Arg876Trp) rs755283620 0.00001
NM_020964.3(EPG5):c.270A>G (p.Ile90Met) rs374098492 0.00001
NM_020964.3(EPG5):c.2776G>A (p.Ala926Thr) rs371695724 0.00001
NM_020964.3(EPG5):c.2845T>C (p.Tyr949His) rs750349437 0.00001
NM_020964.3(EPG5):c.2898A>G (p.Gln966=) rs777041802 0.00001
NM_020964.3(EPG5):c.2954A>G (p.Gln985Arg) rs1212093839 0.00001
NM_020964.3(EPG5):c.2956C>G (p.Pro986Ala) rs755139046 0.00001
NM_020964.3(EPG5):c.2957C>T (p.Pro986Leu) rs1301596513 0.00001
NM_020964.3(EPG5):c.2960A>G (p.Asn987Ser) rs1253995415 0.00001
NM_020964.3(EPG5):c.3044C>T (p.Ala1015Val) rs1135402736 0.00001
NM_020964.3(EPG5):c.3048C>T (p.Gly1016=) rs554642077 0.00001
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile) rs144908324 0.00001
NM_020964.3(EPG5):c.3176A>G (p.His1059Arg) rs936848208 0.00001
NM_020964.3(EPG5):c.3220T>C (p.Tyr1074His) rs369286199 0.00001
NM_020964.3(EPG5):c.3384+3G>A rs1235955647 0.00001
NM_020964.3(EPG5):c.3397G>C (p.Val1133Leu) rs1196176370 0.00001
NM_020964.3(EPG5):c.3410C>T (p.Pro1137Leu) rs2050027099 0.00001
NM_020964.3(EPG5):c.3427G>A (p.Val1143Ile) rs771510931 0.00001
NM_020964.3(EPG5):c.3487C>A (p.Gln1163Lys) rs759405296 0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352 0.00001
NM_020964.3(EPG5):c.3598C>T (p.His1200Tyr) rs758515302 0.00001
NM_020964.3(EPG5):c.3632G>A (p.Ser1211Asn) rs571987859 0.00001
NM_020964.3(EPG5):c.3652A>G (p.Ile1218Val) rs546759895 0.00001
NM_020964.3(EPG5):c.3686C>A (p.Pro1229His) rs778094374 0.00001
NM_020964.3(EPG5):c.3689C>T (p.Thr1230Ile) rs772294581 0.00001
NM_020964.3(EPG5):c.3755G>A (p.Arg1252Gln) rs186446511 0.00001
NM_020964.3(EPG5):c.3767A>G (p.Glu1256Gly) rs766928627 0.00001
NM_020964.3(EPG5):c.3807A>G (p.Gln1269=) rs897520700 0.00001
NM_020964.3(EPG5):c.380A>G (p.Asn127Ser) rs1027702347 0.00001
NM_020964.3(EPG5):c.3847G>A (p.Val1283Met) rs377030279 0.00001
NM_020964.3(EPG5):c.3854C>T (p.Ser1285Phe) rs779751217 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_020964.3(EPG5):c.4040A>G (p.Asn1347Ser) rs371508723 0.00001
NM_020964.3(EPG5):c.4094C>G (p.Ala1365Gly) rs2049870260 0.00001
NM_020964.3(EPG5):c.4111C>T (p.Arg1371Cys) rs368438786 0.00001
NM_020964.3(EPG5):c.4163C>T (p.Pro1388Leu) rs543543733 0.00001
NM_020964.3(EPG5):c.430A>G (p.Asn144Asp) rs775702849 0.00001
NM_020964.3(EPG5):c.4496A>C (p.Asn1499Thr) rs748874666 0.00001
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met) rs201986809 0.00001
NM_020964.3(EPG5):c.4549C>T (p.Pro1517Ser) rs369136227 0.00001
NM_020964.3(EPG5):c.460A>G (p.Ser154Gly) rs758319070 0.00001
NM_020964.3(EPG5):c.4654G>A (p.Ala1552Thr) rs372801548 0.00001
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys) rs780030419 0.00001
NM_020964.3(EPG5):c.4679C>A (p.Ala1560Asp) rs1227873728 0.00001
NM_020964.3(EPG5):c.4705A>G (p.Met1569Val) rs568568831 0.00001
NM_020964.3(EPG5):c.4726C>T (p.Arg1576Cys) rs1261427390 0.00001
NM_020964.3(EPG5):c.4738A>G (p.Thr1580Ala) rs553484474 0.00001
NM_020964.3(EPG5):c.4916T>A (p.Ile1639Asn) rs375030392 0.00001
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu) rs375606930 0.00001
NM_020964.3(EPG5):c.5087C>T (p.Ser1696Leu) rs766622192 0.00001
NM_020964.3(EPG5):c.533G>A (p.Ser178Asn) rs1202088395 0.00001
NM_020964.3(EPG5):c.5359A>G (p.Arg1787Gly) rs750395264 0.00001
NM_020964.3(EPG5):c.5545G>A (p.Glu1849Lys) rs777698208 0.00001
NM_020964.3(EPG5):c.5560A>T (p.Thr1854Ser) rs758263741 0.00001
NM_020964.3(EPG5):c.5603G>A (p.Gly1868Glu) rs751998000 0.00001
NM_020964.3(EPG5):c.5674G>C (p.Glu1892Gln) rs773270236 0.00001
NM_020964.3(EPG5):c.5762G>A (p.Ser1921Asn) rs977677513 0.00001
NM_020964.3(EPG5):c.5953C>T (p.Arg1985Trp) rs146306069 0.00001
NM_020964.3(EPG5):c.6112T>G (p.Cys2038Gly) rs375057925 0.00001
NM_020964.3(EPG5):c.6116C>T (p.Thr2039Ile) rs768999379 0.00001
NM_020964.3(EPG5):c.611A>G (p.Lys204Arg) rs749123170 0.00001
NM_020964.3(EPG5):c.6235G>A (p.Gly2079Arg) rs191824898 0.00001
NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu) rs769470632 0.00001
NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly) rs201980410 0.00001
NM_020964.3(EPG5):c.641A>G (p.Lys214Arg) rs571324055 0.00001
NM_020964.3(EPG5):c.6535G>A (p.Ala2179Thr) rs1245545639 0.00001
NM_020964.3(EPG5):c.654G>T (p.Gln218His) rs753111853 0.00001
NM_020964.3(EPG5):c.6743A>G (p.Asp2248Gly) rs1440725586 0.00001
NM_020964.3(EPG5):c.676G>A (p.Glu226Lys) rs776920434 0.00001
NM_020964.3(EPG5):c.6784C>T (p.Arg2262Cys) rs973783719 0.00001
NM_020964.3(EPG5):c.6816A>T (p.Glu2272Asp) rs766271900 0.00001
NM_020964.3(EPG5):c.6844A>G (p.Ile2282Val) rs781691565 0.00001
NM_020964.3(EPG5):c.6851C>G (p.Thr2284Arg) rs777908648 0.00001
NM_020964.3(EPG5):c.6887T>C (p.Ile2296Thr) rs921995592 0.00001
NM_020964.3(EPG5):c.6955G>A (p.Val2319Ile) rs199635841 0.00001
NM_020964.3(EPG5):c.6964A>G (p.Met2322Val) rs1257071280 0.00001
NM_020964.3(EPG5):c.7028C>T (p.Ser2343Leu) rs1283916552 0.00001
NM_020964.3(EPG5):c.7129G>A (p.Val2377Ile) rs748584845 0.00001
NM_020964.3(EPG5):c.712C>T (p.Arg238Cys) rs745445439 0.00001
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu) rs370270531 0.00001
NM_020964.3(EPG5):c.7170G>T (p.Arg2390Ser) rs1344860554 0.00001
NM_020964.3(EPG5):c.7174G>A (p.Glu2392Lys) rs1399290496 0.00001
NM_020964.3(EPG5):c.7199G>A (p.Ser2400Asn) rs1030476117 0.00001
NM_020964.3(EPG5):c.7217T>G (p.Val2406Gly) rs1489617016 0.00001
NM_020964.3(EPG5):c.7226+6T>C rs775743724 0.00001
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg) rs777351158 0.00001
NM_020964.3(EPG5):c.7312G>A (p.Val2438Ile) rs868233133 0.00001
NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu) rs370315826 0.00001
NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe) rs1447140985 0.00001
NM_020964.3(EPG5):c.752A>T (p.Glu251Val) rs764715323 0.00001
NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala) rs772963749 0.00001
NM_020964.3(EPG5):c.844A>G (p.Met282Val) rs1358436668 0.00001
NC_000018.9:g.(?_42281312)_(45423127_?)dup
NC_000018.9:g.(?_43432412)_(43547225_?)dup
NC_000018.9:g.(?_43432432)_(43462472_?)del
NC_000018.9:g.(?_43490466)_(43496567_?)dup
NC_000018.9:g.(?_43503214)_(43505888_?)del
NM_020964.3(EPG5):c.1049G>T (p.Arg350Leu)
NM_020964.3(EPG5):c.1057A>G (p.Arg353Gly)
NM_020964.3(EPG5):c.1070A>G (p.Asn357Ser)
NM_020964.3(EPG5):c.1098G>C (p.Lys366Asn)
NM_020964.3(EPG5):c.1112A>G (p.Lys371Arg) rs2143748127
NM_020964.3(EPG5):c.1126C>T (p.His376Tyr) rs2143747766
NM_020964.3(EPG5):c.1131_1132insGGCCAG (p.Gln377_Thr378insGlyGln) rs2143747690
NM_020964.3(EPG5):c.1148C>G (p.Ser383Cys) rs1431365834
NM_020964.3(EPG5):c.1169G>C (p.Arg390Thr) rs2143746816
NM_020964.3(EPG5):c.1182G>T (p.Glu394Asp)
NM_020964.3(EPG5):c.1204A>G (p.Ser402Gly)
NM_020964.3(EPG5):c.1237C>G (p.His413Asp)
NM_020964.3(EPG5):c.1237C>T (p.His413Tyr) rs2050930158
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu) rs2143723704
NM_020964.3(EPG5):c.1261_1263del (p.Gln421del)
NM_020964.3(EPG5):c.1270A>G (p.Ser424Gly)
NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu) rs200123131
NM_020964.3(EPG5):c.1346A>T (p.Asp449Val) rs2143722158
NM_020964.3(EPG5):c.1356T>G (p.Phe452Leu)
NM_020964.3(EPG5):c.1358A>T (p.His453Leu)
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp) rs370173694
NM_020964.3(EPG5):c.1391T>C (p.Val464Ala) rs572513821
NM_020964.3(EPG5):c.1415G>C (p.Cys472Ser)
NM_020964.3(EPG5):c.1443C>G (p.Asn481Lys)
NM_020964.3(EPG5):c.1462G>A (p.Ala488Thr)
NM_020964.3(EPG5):c.1499T>G (p.Ile500Ser)
NM_020964.3(EPG5):c.1504G>A (p.Val502Met)
NM_020964.3(EPG5):c.1539G>A (p.Met513Ile) rs369120436
NM_020964.3(EPG5):c.1540C>A (p.Gln514Lys)
NM_020964.3(EPG5):c.1544C>A (p.Ser515Tyr) rs746558016
NM_020964.3(EPG5):c.1562C>G (p.Ser521Cys)
NM_020964.3(EPG5):c.1564C>G (p.Pro522Ala) rs748453305
NM_020964.3(EPG5):c.1571+3A>G
NM_020964.3(EPG5):c.1590G>A (p.Met530Ile)
NM_020964.3(EPG5):c.1625C>G (p.Ser542Cys)
NM_020964.3(EPG5):c.1625C>T (p.Ser542Phe) rs754742313
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_020964.3(EPG5):c.164T>G (p.Phe55Cys) rs2143794640
NM_020964.3(EPG5):c.1652C>T (p.Thr551Met)
NM_020964.3(EPG5):c.1664A>T (p.Glu555Val) rs2050789196
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)
NM_020964.3(EPG5):c.1702A>C (p.Ile568Leu) rs1302366422
NM_020964.3(EPG5):c.1708C>G (p.Leu570Val)
NM_020964.3(EPG5):c.1783A>G (p.Lys595Glu) rs1483709735
NM_020964.3(EPG5):c.1792+6C>T rs2145912247
NM_020964.3(EPG5):c.1796A>T (p.Asp599Val)
NM_020964.3(EPG5):c.1816A>G (p.Arg606Gly) rs2050711394
NM_020964.3(EPG5):c.181A>G (p.Lys61Glu)
NM_020964.3(EPG5):c.1825G>A (p.Glu609Lys)
NM_020964.3(EPG5):c.184G>A (p.Val62Met)
NM_020964.3(EPG5):c.1867C>A (p.Leu623Ile) rs572756147
NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro) rs2145906621
NM_020964.3(EPG5):c.1880G>A (p.Gly627Glu) rs1488725589
NM_020964.3(EPG5):c.1904G>T (p.Arg635Leu) rs761134702
NM_020964.3(EPG5):c.1907A>G (p.Tyr636Cys) rs2145906346
NM_020964.3(EPG5):c.1910G>T (p.Arg637Met)
NM_020964.3(EPG5):c.1913A>C (p.Gln638Pro) rs2050708572
NM_020964.3(EPG5):c.1944-3C>G
NM_020964.3(EPG5):c.1952T>C (p.Leu651Pro)
NM_020964.3(EPG5):c.1954G>A (p.Gly652Ser)
NM_020964.3(EPG5):c.1954G>T (p.Gly652Cys) rs754417895
NM_020964.3(EPG5):c.1970A>G (p.His657Arg)
NM_020964.3(EPG5):c.1976C>T (p.Ala659Val)
NM_020964.3(EPG5):c.19C>T (p.Pro7Ser)
NM_020964.3(EPG5):c.2019G>T (p.Gln673His) rs928367570
NM_020964.3(EPG5):c.2030T>C (p.Met677Thr)
NM_020964.3(EPG5):c.2044G>A (p.Val682Ile) rs2050618634
NM_020964.3(EPG5):c.2069G>A (p.Arg690Lys) rs1568173320
NM_020964.3(EPG5):c.2071G>A (p.Ala691Thr) rs2145880722
NM_020964.3(EPG5):c.20C>A (p.Pro7His) rs1368802413
NM_020964.3(EPG5):c.20C>T (p.Pro7Leu) rs1368802413
NM_020964.3(EPG5):c.2105G>A (p.Gly702Asp)
NM_020964.3(EPG5):c.2157G>A (p.Met719Ile) rs2145846069
NM_020964.3(EPG5):c.2164A>G (p.Lys722Glu) rs2145845962
NM_020964.3(EPG5):c.2180T>C (p.Met727Thr) rs2050483526
NM_020964.3(EPG5):c.2182C>T (p.His728Tyr) rs2145845822
NM_020964.3(EPG5):c.2219C>T (p.Ser740Phe)
NM_020964.3(EPG5):c.2255A>G (p.Gln752Arg) rs2050480635
NM_020964.3(EPG5):c.2272A>C (p.Thr758Pro) rs2145819702
NM_020964.3(EPG5):c.2272A>G (p.Thr758Ala) rs2145819702
NM_020964.3(EPG5):c.2275A>G (p.Asn759Asp)
NM_020964.3(EPG5):c.2338G>A (p.Ala780Thr)
NM_020964.3(EPG5):c.2346G>A (p.Met782Ile) rs2145819246
NM_020964.3(EPG5):c.2378A>G (p.Asp793Gly)
NM_020964.3(EPG5):c.2395G>T (p.Val799Phe) rs376598755
NM_020964.3(EPG5):c.240G>A (p.Met80Ile) rs1410991160
NM_020964.3(EPG5):c.2430G>T (p.Leu810Phe) rs1192483869
NM_020964.3(EPG5):c.2444C>T (p.Thr815Ile) rs2050338855
NM_020964.3(EPG5):c.2462G>A (p.Arg821Gln)
NM_020964.3(EPG5):c.2468T>A (p.Leu823His)
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)
NM_020964.3(EPG5):c.2485G>A (p.Ala829Thr)
NM_020964.3(EPG5):c.2488G>C (p.Val830Leu)
NM_020964.3(EPG5):c.2507C>G (p.Ser836Cys)
NM_020964.3(EPG5):c.2538T>G (p.Ile846Met)
NM_020964.3(EPG5):c.2548G>A (p.Gly850Arg)
NM_020964.3(EPG5):c.2581C>T (p.Pro861Ser)
NM_020964.3(EPG5):c.2595G>T (p.Trp865Cys) rs1160786631
NM_020964.3(EPG5):c.2629G>C (p.Asp877His) rs1283557669
NM_020964.3(EPG5):c.2648A>G (p.Asn883Ser) rs767545552
NM_020964.3(EPG5):c.2656G>T (p.Val886Leu)
NM_020964.3(EPG5):c.2672T>G (p.Leu891Arg) rs2145782672
NM_020964.3(EPG5):c.2683A>G (p.Ile895Val)
NM_020964.3(EPG5):c.2684T>C (p.Ile895Thr)
NM_020964.3(EPG5):c.2713A>G (p.Lys905Glu)
NM_020964.3(EPG5):c.2719-4A>G
NM_020964.3(EPG5):c.2723C>T (p.Thr908Ile) rs2145765529
NM_020964.3(EPG5):c.2731C>G (p.Leu911Val) rs757435994
NM_020964.3(EPG5):c.2741C>T (p.Ala914Val)
NM_020964.3(EPG5):c.2747A>G (p.His916Arg)
NM_020964.3(EPG5):c.2758G>T (p.Ala920Ser) rs751746856
NM_020964.3(EPG5):c.2803C>G (p.Pro935Ala) rs2050196248
NM_020964.3(EPG5):c.2803C>T (p.Pro935Ser)
NM_020964.3(EPG5):c.280G>C (p.Glu94Gln) rs2143792761
NM_020964.3(EPG5):c.2813_2824del (p.Gly938_Ser941del)
NM_020964.3(EPG5):c.2840T>C (p.Val947Ala)
NM_020964.3(EPG5):c.2846A>T (p.Tyr949Phe) rs2050184005
NM_020964.3(EPG5):c.2857A>G (p.Ile953Val) rs2145760173
NM_020964.3(EPG5):c.2936A>G (p.Lys979Arg)
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe) rs2050179430
NM_020964.3(EPG5):c.29G>A (p.Arg10Gln)
NM_020964.3(EPG5):c.3022C>T (p.Pro1008Ser)
NM_020964.3(EPG5):c.3062G>A (p.Cys1021Tyr)
NM_020964.3(EPG5):c.3083C>G (p.Thr1028Arg) rs2050174462
NM_020964.3(EPG5):c.310A>G (p.Lys104Glu)
NM_020964.3(EPG5):c.3113G>A (p.Cys1038Tyr) rs2050066834
NM_020964.3(EPG5):c.3115G>A (p.Ala1039Thr)
NM_020964.3(EPG5):c.3130C>A (p.Leu1044Ile)
NM_020964.3(EPG5):c.3145G>T (p.Val1049Phe) rs2145725033
NM_020964.3(EPG5):c.3152C>T (p.Ser1051Leu)
NM_020964.3(EPG5):c.3156A>T (p.Arg1052Ser)
NM_020964.3(EPG5):c.3206A>G (p.Tyr1069Cys) rs2050064434
NM_020964.3(EPG5):c.3209C>G (p.Pro1070Arg)
NM_020964.3(EPG5):c.3240-10T>C
NM_020964.3(EPG5):c.3266T>C (p.Leu1089Pro)
NM_020964.3(EPG5):c.3270C>A (p.His1090Gln) rs2050038241
NM_020964.3(EPG5):c.3279C>A (p.Ser1093Arg)
NM_020964.3(EPG5):c.3289C>G (p.Gln1097Glu) rs2145716910
NM_020964.3(EPG5):c.3292G>A (p.Gly1098Ser) rs1599566046
NM_020964.3(EPG5):c.329G>C (p.Arg110Thr) rs2143791830
NM_020964.3(EPG5):c.32C>A (p.Ala11Asp)
NM_020964.3(EPG5):c.3318G>T (p.Lys1106Asn)
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro) rs2050036468
NM_020964.3(EPG5):c.3355A>G (p.Asn1119Asp)
NM_020964.3(EPG5):c.3362A>G (p.Lys1121Arg)
NM_020964.3(EPG5):c.3363G>T (p.Lys1121Asn)
NM_020964.3(EPG5):c.3384G>A (p.Gln1128=) rs2050035169
NM_020964.3(EPG5):c.3400A>T (p.Ser1134Cys)
NM_020964.3(EPG5):c.341G>T (p.Gly114Val) rs1465876496
NM_020964.3(EPG5):c.3424C>T (p.Pro1142Ser)
NM_020964.3(EPG5):c.343G>A (p.Asp115Asn)
NM_020964.3(EPG5):c.3455C>G (p.Ala1152Gly)
NM_020964.3(EPG5):c.3470A>G (p.His1157Arg)
NM_020964.3(EPG5):c.3472C>T (p.Leu1158Phe) rs201959853
NM_020964.3(EPG5):c.3489A>C (p.Gln1163His)
NM_020964.3(EPG5):c.3493A>C (p.Ile1165Leu)
NM_020964.3(EPG5):c.3501C>A (p.Phe1167Leu)
NM_020964.3(EPG5):c.3505A>T (p.Met1169Leu)
NM_020964.3(EPG5):c.3511C>G (p.His1171Asp) rs774835244
NM_020964.3(EPG5):c.3512A>G (p.His1171Arg) rs1400525515
NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg)
NM_020964.3(EPG5):c.353T>C (p.Val118Ala) rs2143791192
NM_020964.3(EPG5):c.3555A>G (p.Ile1185Met)
NM_020964.3(EPG5):c.3556C>G (p.Gln1186Glu)
NM_020964.3(EPG5):c.3565C>G (p.Leu1189Val) rs781321117
NM_020964.3(EPG5):c.3582+3A>G rs1210376180
NM_020964.3(EPG5):c.35AGGCCA[3] (p.12KA[3]) rs769267797
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp) rs764221778
NM_020964.3(EPG5):c.3629T>C (p.Val1210Ala) rs2050011051
NM_020964.3(EPG5):c.3689C>A (p.Thr1230Asn) rs772294581
NM_020964.3(EPG5):c.371C>T (p.Pro124Leu)
NM_020964.3(EPG5):c.3720C>A (p.Asn1240Lys) rs2145694247
NM_020964.3(EPG5):c.3721A>G (p.Met1241Val) rs1258237376
NM_020964.3(EPG5):c.3746C>T (p.Ser1249Phe)
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro) rs1568149047
NM_020964.3(EPG5):c.3778G>A (p.Val1260Met)
NM_020964.3(EPG5):c.3784A>T (p.Asn1262Tyr)
NM_020964.3(EPG5):c.3799C>G (p.Pro1267Ala) rs2049964767
NM_020964.3(EPG5):c.379A>G (p.Asn127Asp)
NM_020964.3(EPG5):c.3808G>A (p.Ala1270Thr) rs1036019427
NM_020964.3(EPG5):c.3816+4C>A
NM_020964.3(EPG5):c.3816+4_3816+5dup rs2049964277
NM_020964.3(EPG5):c.3827C>T (p.Thr1276Ile) rs2049927667
NM_020964.3(EPG5):c.3856C>T (p.Leu1286Phe)
NM_020964.3(EPG5):c.3886C>G (p.His1296Asp)
NM_020964.3(EPG5):c.38C>T (p.Ala13Val)
NM_020964.3(EPG5):c.3931A>G (p.Ile1311Val) rs1000037657
NM_020964.3(EPG5):c.3938A>G (p.Gln1313Arg) rs2049924645
NM_020964.3(EPG5):c.3948C>A (p.Phe1316Leu)
NM_020964.3(EPG5):c.4001G>C (p.Cys1334Ser) rs938393640
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.401C>G (p.Thr134Ser) rs2143790253
NM_020964.3(EPG5):c.4027C>T (p.Pro1343Ser)
NM_020964.3(EPG5):c.4037T>A (p.Ile1346Asn) rs201968905
NM_020964.3(EPG5):c.4037T>C (p.Ile1346Thr) rs201968905
NM_020964.3(EPG5):c.4047G>T (p.Leu1349Phe) rs1353924182
NM_020964.3(EPG5):c.4069A>C (p.Thr1357Pro)
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020964.3(EPG5):c.4083C>G (p.Asp1361Glu) rs2145666399
NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe) rs2049869676
NM_020964.3(EPG5):c.4112G>A (p.Arg1371His) rs748634612
NM_020964.3(EPG5):c.4130G>C (p.Ser1377Thr)
NM_020964.3(EPG5):c.4136G>T (p.Gly1379Val) rs749548903
NM_020964.3(EPG5):c.4164_4165delinsAT (p.Gly1389Cys) rs2049867986
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys) rs551488784
NM_020964.3(EPG5):c.4195_4196delinsTT (p.Glu1399Leu) rs2145665111
NM_020964.3(EPG5):c.4205+3G>T
NM_020964.3(EPG5):c.4205+4A>T rs1281050179
NM_020964.3(EPG5):c.4214A>G (p.Asn1405Ser)
NM_020964.3(EPG5):c.4214A>T (p.Asn1405Ile)
NM_020964.3(EPG5):c.4231C>A (p.Leu1411Ile) rs1406862002
NM_020964.3(EPG5):c.4232T>G (p.Leu1411Arg)
NM_020964.3(EPG5):c.4250A>C (p.Gln1417Pro) rs2049798752
NM_020964.3(EPG5):c.4261A>G (p.Thr1421Ala) rs1231659675
NM_020964.3(EPG5):c.427G>A (p.Glu143Lys) rs2143789664
NM_020964.3(EPG5):c.4286A>G (p.His1429Arg)
NM_020964.3(EPG5):c.4286A>T (p.His1429Leu) rs1329572416
NM_020964.3(EPG5):c.4312G>A (p.Val1438Met) rs779984615
NM_020964.3(EPG5):c.4329+3G>A
NM_020964.3(EPG5):c.4330-6T>C
NM_020964.3(EPG5):c.4346A>G (p.Tyr1449Cys)
NM_020964.3(EPG5):c.4354A>G (p.Met1452Val) rs2145611568
NM_020964.3(EPG5):c.4356G>A (p.Met1452Ile) rs2145611526
NM_020964.3(EPG5):c.4361G>A (p.Arg1454His)
NM_020964.3(EPG5):c.4361G>T (p.Arg1454Leu) rs766875773
NM_020964.3(EPG5):c.437C>T (p.Ser146Leu) rs368719987
NM_020964.3(EPG5):c.4385C>G (p.Thr1462Ser)
NM_020964.3(EPG5):c.4400C>T (p.Thr1467Ile)
NM_020964.3(EPG5):c.4429C>G (p.Pro1477Ala) rs2049688459
NM_020964.3(EPG5):c.4429C>T (p.Pro1477Ser) rs2049688459
NM_020964.3(EPG5):c.4430C>T (p.Pro1477Leu)
NM_020964.3(EPG5):c.444_445delinsTT (p.Gln148_Gly149delinsHisCys) rs2143789374
NM_020964.3(EPG5):c.445G>A (p.Gly149Ser)
NM_020964.3(EPG5):c.4475C>G (p.Ala1492Gly)
NM_020964.3(EPG5):c.4480G>A (p.Glu1494Lys)
NM_020964.3(EPG5):c.4481A>G (p.Glu1494Gly)
NM_020964.3(EPG5):c.4497C>A (p.Asn1499Lys)
NM_020964.3(EPG5):c.449G>A (p.Gly150Glu)
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp) rs370776793
NM_020964.3(EPG5):c.4513G>A (p.Ala1505Thr) rs2145589544
NM_020964.3(EPG5):c.4514C>T (p.Ala1505Val)
NM_020964.3(EPG5):c.4520A>G (p.Gln1507Arg)
NM_020964.3(EPG5):c.4523C>G (p.Pro1508Arg)
NM_020964.3(EPG5):c.4589A>G (p.Gln1530Arg)
NM_020964.3(EPG5):c.4597_4599del (p.Ala1533del) rs2145588427
NM_020964.3(EPG5):c.4601C>T (p.Thr1534Ile) rs1599529163
NM_020964.3(EPG5):c.4605G>C (p.Gln1535His) rs2145588320
NM_020964.3(EPG5):c.4618G>C (p.Asp1540His)
NM_020964.3(EPG5):c.463G>T (p.Ala155Ser)
NM_020964.3(EPG5):c.4651G>T (p.Ala1551Ser)
NM_020964.3(EPG5):c.4660C>T (p.Arg1554Trp)
NM_020964.3(EPG5):c.4664A>T (p.Glu1555Val)
NM_020964.3(EPG5):c.4681C>G (p.Leu1561Val) rs944495980
NM_020964.3(EPG5):c.4700A>G (p.Asp1567Gly) rs2145576239
NM_020964.3(EPG5):c.4708C>A (p.Pro1570Thr)
NM_020964.3(EPG5):c.4727G>A (p.Arg1576His)
NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro) rs1345938343
NM_020964.3(EPG5):c.4762G>A (p.Gly1588Ser)
NM_020964.3(EPG5):c.4771G>T (p.Gly1591Cys) rs370120497
NM_020964.3(EPG5):c.4790C>T (p.Ala1597Val) rs2145575510
NM_020964.3(EPG5):c.4792G>T (p.Ala1598Ser) rs769998231
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)
NM_020964.3(EPG5):c.4823A>G (p.His1608Arg)
NM_020964.3(EPG5):c.4837A>G (p.Ile1613Val) rs746065186
NM_020964.3(EPG5):c.488C>T (p.Thr163Ile) rs1167290983
NM_020964.3(EPG5):c.4894G>T (p.Ala1632Ser)
NM_020964.3(EPG5):c.4903C>T (p.Pro1635Ser) rs2145491502
NM_020964.3(EPG5):c.4923A>C (p.Glu1641Asp) rs1383396807
NM_020964.3(EPG5):c.4931_4936del (p.Val1644_His1645del) rs2145491212
NM_020964.3(EPG5):c.493C>G (p.Pro165Ala) rs2143788531
NM_020964.3(EPG5):c.4952+2dup rs2145491038
NM_020964.3(EPG5):c.4952+4A>G
NM_020964.3(EPG5):c.4952C>T (p.Thr1651Met)
NM_020964.3(EPG5):c.4960G>A (p.Val1654Met)
NM_020964.3(EPG5):c.4965T>G (p.Asn1655Lys) rs2049253483
NM_020964.3(EPG5):c.4979A>G (p.Gln1660Arg)
NM_020964.3(EPG5):c.5026A>G (p.Ile1676Val) rs2049251873
NM_020964.3(EPG5):c.5027T>C (p.Ile1676Thr)
NM_020964.3(EPG5):c.5033A>C (p.Asp1678Ala) rs2049251601
NM_020964.3(EPG5):c.5044G>A (p.Asp1682Asn)
NM_020964.3(EPG5):c.5047G>C (p.Glu1683Gln)
NM_020964.3(EPG5):c.5056C>T (p.Arg1686Cys)
NM_020964.3(EPG5):c.5168A>G (p.Asn1723Ser)
NM_020964.3(EPG5):c.5179T>C (p.Cys1727Arg)
NM_020964.3(EPG5):c.5203A>G (p.Thr1735Ala) rs2145444248
NM_020964.3(EPG5):c.5218C>A (p.Pro1740Thr) rs2145443901
NM_020964.3(EPG5):c.5233C>G (p.Gln1745Glu)
NM_020964.3(EPG5):c.5251G>A (p.Val1751Met)
NM_020964.3(EPG5):c.5322G>T (p.Trp1774Cys) rs2145423076
NM_020964.3(EPG5):c.5327G>C (p.Ser1776Thr)
NM_020964.3(EPG5):c.5329G>A (p.Ala1777Thr)
NM_020964.3(EPG5):c.5353C>T (p.Arg1785Cys)
NM_020964.3(EPG5):c.5371T>C (p.Ser1791Pro) rs2049117384
NM_020964.3(EPG5):c.5384C>T (p.Ala1795Val)
NM_020964.3(EPG5):c.5390C>G (p.Thr1797Ser) rs1411482327
NM_020964.3(EPG5):c.5399G>T (p.Gly1800Val)
NM_020964.3(EPG5):c.5403T>A (p.Leu1801=) rs751446448
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
NM_020964.3(EPG5):c.5413G>C (p.Glu1805Gln)
NM_020964.3(EPG5):c.5420T>C (p.Ile1807Thr) rs764666107
NM_020964.3(EPG5):c.5427G>A (p.Met1809Ile) rs1311100994
NM_020964.3(EPG5):c.5455A>G (p.Thr1819Ala)
NM_020964.3(EPG5):c.5490C>A (p.Tyr1830Ter)
NM_020964.3(EPG5):c.5492G>A (p.Ser1831Asn)
NM_020964.3(EPG5):c.5500C>A (p.Leu1834Ile) rs2049113990
NM_020964.3(EPG5):c.551G>T (p.Gly184Val)
NM_020964.3(EPG5):c.5531A>G (p.Gln1844Arg) rs1232750336
NM_020964.3(EPG5):c.5548T>A (p.Cys1850Ser) rs1599479322
NM_020964.3(EPG5):c.5548T>C (p.Cys1850Arg) rs1599479322
NM_020964.3(EPG5):c.5563C>G (p.Leu1855Val) rs1023469699
NM_020964.3(EPG5):c.5570C>T (p.Ala1857Val)
NM_020964.3(EPG5):c.5576G>T (p.Gly1859Val) rs1450706583
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser) rs34977955
NM_020964.3(EPG5):c.5592C>G (p.Ser1864Arg) rs2145404973
NM_020964.3(EPG5):c.5602G>C (p.Gly1868Arg) rs762207905
NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp) rs762207905
NM_020964.3(EPG5):c.5608G>C (p.Ala1870Pro)
NM_020964.3(EPG5):c.5614A>G (p.Thr1872Ala) rs1568116795
NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)
NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn) rs1213600316
NM_020964.3(EPG5):c.5637C>G (p.Ser1879Arg) rs2049060710
NM_020964.3(EPG5):c.5648C>T (p.Ala1883Val) rs750003350
NM_020964.3(EPG5):c.5667+4T>C rs2049058336
NM_020964.3(EPG5):c.5689C>T (p.Leu1897Phe) rs2049037342
NM_020964.3(EPG5):c.5700T>G (p.Phe1900Leu)
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.5737A>T (p.Ser1913Cys) rs1555666104
NM_020964.3(EPG5):c.5761A>T (p.Ser1921Cys) rs2145393709
NM_020964.3(EPG5):c.5764C>G (p.Pro1922Ala)
NM_020964.3(EPG5):c.5774C>G (p.Ala1925Gly) rs2145393537
NM_020964.3(EPG5):c.5819A>T (p.Asp1940Val)
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)
NM_020964.3(EPG5):c.5854G>A (p.Ala1952Thr) rs111806310
NM_020964.3(EPG5):c.5858G>A (p.Ser1953Asn)
NM_020964.3(EPG5):c.5885A>G (p.His1962Arg) rs1295248603
NM_020964.3(EPG5):c.5890G>T (p.Val1964Leu)
NM_020964.3(EPG5):c.5929G>C (p.Glu1977Gln) rs750230003
NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys) rs150214973
NM_020964.3(EPG5):c.5943-14T>G
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.5960A>T (p.Tyr1987Phe) rs2145364969
NM_020964.3(EPG5):c.5972A>G (p.Glu1991Gly) rs2048970400
NM_020964.3(EPG5):c.6014C>T (p.Thr2005Ile) rs772171146
NM_020964.3(EPG5):c.6050-3T>C
NM_020964.3(EPG5):c.6068A>T (p.Asp2023Val) rs2145310998
NM_020964.3(EPG5):c.6095T>G (p.Met2032Arg) rs971428390
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.611A>C (p.Lys204Thr) rs749123170
NM_020964.3(EPG5):c.6130C>T (p.Pro2044Ser)
NM_020964.3(EPG5):c.6155A>G (p.His2052Arg)
NM_020964.3(EPG5):c.6166C>G (p.Arg2056Gly)
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6184G>T (p.Asp2062Tyr)
NM_020964.3(EPG5):c.6190C>T (p.His2064Tyr) rs1269756096
NM_020964.3(EPG5):c.6204G>T (p.Met2068Ile) rs2048848821
NM_020964.3(EPG5):c.6224A>T (p.Lys2075Ile)
NM_020964.3(EPG5):c.6225+6C>T
NM_020964.3(EPG5):c.6228G>A (p.Val2076=)
NM_020964.3(EPG5):c.6253T>G (p.Phe2085Val) rs769470632
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.6283G>A (p.Val2095Ile) rs2048776242
NM_020964.3(EPG5):c.6287A>C (p.Asn2096Thr) rs141854483
NM_020964.3(EPG5):c.6311C>G (p.Ala2104Gly)
NM_020964.3(EPG5):c.6323G>T (p.Ser2108Ile)
NM_020964.3(EPG5):c.635T>C (p.Val212Ala)
NM_020964.3(EPG5):c.6364T>C (p.Phe2122Leu) rs1025405891
NM_020964.3(EPG5):c.6419C>G (p.Pro2140Arg)
NM_020964.3(EPG5):c.641A>C (p.Lys214Thr)
NM_020964.3(EPG5):c.6421T>G (p.Leu2141Val) rs2145270811
NM_020964.3(EPG5):c.6428G>A (p.Ser2143Asn)
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.644T>G (p.Leu215Arg)
NM_020964.3(EPG5):c.6487A>C (p.Ser2163Arg)
NM_020964.3(EPG5):c.6494T>G (p.Leu2165Arg)
NM_020964.3(EPG5):c.6508A>G (p.Ser2170Gly) rs2145269888
NM_020964.3(EPG5):c.6560T>C (p.Ile2187Thr)
NM_020964.3(EPG5):c.6574A>G (p.Lys2192Glu)
NM_020964.3(EPG5):c.6595A>G (p.Ile2199Val) rs1555662276
NM_020964.3(EPG5):c.6621+4A>C
NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu)
NM_020964.3(EPG5):c.6641A>G (p.Gln2214Arg) rs2145257667
NM_020964.3(EPG5):c.6658A>G (p.Met2220Val) rs1431261711
NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln) rs2145257250
NM_020964.3(EPG5):c.6682G>A (p.Glu2228Lys)
NM_020964.3(EPG5):c.6691G>A (p.Gly2231Arg)
NM_020964.3(EPG5):c.6725T>C (p.Met2242Thr)
NM_020964.3(EPG5):c.6726G>A (p.Met2242Ile) rs866193216
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_020964.3(EPG5):c.6766+4A>C rs2048727518
NM_020964.3(EPG5):c.6779A>G (p.Gln2260Arg)
NM_020964.3(EPG5):c.6790A>G (p.Met2264Val)
NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del)
NM_020964.3(EPG5):c.6803G>A (p.Ser2268Asn)
NM_020964.3(EPG5):c.6812T>A (p.Met2271Lys)
NM_020964.3(EPG5):c.6853G>T (p.Ala2285Ser)
NM_020964.3(EPG5):c.6865C>T (p.Arg2289Trp)
NM_020964.3(EPG5):c.6874A>G (p.Ile2292Val)
NM_020964.3(EPG5):c.6878G>A (p.Arg2293Gln)
NM_020964.3(EPG5):c.6889G>C (p.Gly2297Arg) rs1599429977
NM_020964.3(EPG5):c.692T>A (p.Val231Glu)
NM_020964.3(EPG5):c.6950C>T (p.Ala2317Val)
NM_020964.3(EPG5):c.7006G>C (p.Glu2336Gln)
NM_020964.3(EPG5):c.7013C>T (p.Pro2338Leu) rs2048570351
NM_020964.3(EPG5):c.7156G>A (p.Glu2386Lys)
NM_020964.3(EPG5):c.7169G>A (p.Arg2390Lys)
NM_020964.3(EPG5):c.7172A>G (p.Asn2391Ser)
NM_020964.3(EPG5):c.7183G>A (p.Val2395Met)
NM_020964.3(EPG5):c.7210G>A (p.Glu2404Lys) rs2145197221
NM_020964.3(EPG5):c.7227-14G>A
NM_020964.3(EPG5):c.722G>A (p.Arg241Gln)
NM_020964.3(EPG5):c.7231G>A (p.Val2411Met) rs764568339
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_020964.3(EPG5):c.7266C>G (p.His2422Gln) rs2048553679
NM_020964.3(EPG5):c.727T>C (p.Tyr243His)
NM_020964.3(EPG5):c.7286T>A (p.Leu2429His) rs2048553005
NM_020964.3(EPG5):c.7294A>T (p.Thr2432Ser) rs768694584
NM_020964.3(EPG5):c.7307A>G (p.Asp2436Gly) rs2048551891
NM_020964.3(EPG5):c.7324T>C (p.Ser2442Pro) rs764577859
NM_020964.3(EPG5):c.7334G>A (p.Arg2445Gln)
NM_020964.3(EPG5):c.7356C>G (p.Ser2452Arg)
NM_020964.3(EPG5):c.7372G>T (p.Ala2458Ser) rs2048549989
NM_020964.3(EPG5):c.7373C>T (p.Ala2458Val)
NM_020964.3(EPG5):c.7420C>T (p.Arg2474Trp)
NM_020964.3(EPG5):c.743C>T (p.Ser248Phe)
NM_020964.3(EPG5):c.7440C>G (p.Asn2480Lys) rs2048548037
NM_020964.3(EPG5):c.7442+5G>A rs1177839830
NM_020964.3(EPG5):c.7443-621A>G rs930302721
NM_020964.3(EPG5):c.7448G>A (p.Arg2483Gln) rs770594769
NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp) rs777272603
NM_020964.3(EPG5):c.7460G>A (p.Arg2487Gln) rs912810095
NM_020964.3(EPG5):c.7469C>T (p.Ala2490Val)
NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile) rs1374928586
NM_020964.3(EPG5):c.7492C>T (p.Pro2498Ser)
NM_020964.3(EPG5):c.7507A>G (p.Ile2503Val) rs2048500326
NM_020964.3(EPG5):c.7510C>T (p.Arg2504Cys)
NM_020964.3(EPG5):c.7520C>G (p.Pro2507Arg) rs2145172677
NM_020964.3(EPG5):c.7523G>T (p.Gly2508Val) rs751623844
NM_020964.3(EPG5):c.7538T>C (p.Leu2513Pro) rs2145172527
NM_020964.3(EPG5):c.7545del (p.Ala2517fs) rs2145172418
NM_020964.3(EPG5):c.7557+5G>C
NM_020964.3(EPG5):c.7558-18A>T
NM_020964.3(EPG5):c.7558-5T>C
NM_020964.3(EPG5):c.7565A>G (p.Asn2522Ser) rs2048438947
NM_020964.3(EPG5):c.7568C>G (p.Ala2523Gly) rs2048438822
NM_020964.3(EPG5):c.7603G>A (p.Glu2535Lys)
NM_020964.3(EPG5):c.7612G>T (p.Asp2538Tyr) rs748731055
NM_020964.3(EPG5):c.7627G>A (p.Ala2543Thr) rs1172390303
NM_020964.3(EPG5):c.7660C>A (p.Leu2554Ile) rs1239915974
NM_020964.3(EPG5):c.7666G>A (p.Asp2556Asn) rs2145147078
NM_020964.3(EPG5):c.7672A>T (p.Lys2558Ter)
NM_020964.3(EPG5):c.7684G>T (p.Ala2562Ser) rs757431427
NM_020964.3(EPG5):c.7685C>G (p.Ala2562Gly) rs2145146931
NM_020964.3(EPG5):c.7690C>T (p.Leu2564Phe) rs2145146898
NM_020964.3(EPG5):c.7735C>T (p.Arg2579Ter)
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln) rs763628666
NM_020964.3(EPG5):c.814G>A (p.Val272Ile) rs367846863
NM_020964.3(EPG5):c.830A>G (p.Glu277Gly) rs2050982781
NM_020964.3(EPG5):c.856G>A (p.Asp286Asn)
NM_020964.3(EPG5):c.871T>A (p.Tyr291Asn)
NM_020964.3(EPG5):c.964A>G (p.Lys322Glu) rs1294882967
NM_020964.3(EPG5):c.971G>A (p.Arg324Gln) rs769257858
NM_020964.3(EPG5):c.998T>C (p.Met333Thr) rs1052199553

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