ClinVar Miner

List of variants in gene EPG5 reported as likely benign for Vici syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1129
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00281
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00235
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys) rs148098259 0.00164
NM_020964.3(EPG5):c.4891G>A (p.Ala1631Thr) rs182512524 0.00116
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079 0.00113
NM_020964.3(EPG5):c.3079A>G (p.Met1027Val) rs200114829 0.00094
NM_020964.3(EPG5):c.438G>A (p.Ser146=) rs186410807 0.00081
NM_020964.3(EPG5):c.7621T>C (p.Leu2541=) rs371309452 0.00079
NM_020964.3(EPG5):c.3385-4A>T rs150567949 0.00078
NM_020964.3(EPG5):c.4502G>A (p.Arg1501Gln) rs186784974 0.00076
NM_020964.3(EPG5):c.2426C>T (p.Thr809Ile) rs181383334 0.00074
NM_020964.3(EPG5):c.4581A>G (p.Leu1527=) rs200617597 0.00073
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606 0.00067
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=) rs199648768 0.00065
NM_020964.3(EPG5):c.2719-19T>A rs200251297 0.00064
NM_020964.3(EPG5):c.3240-16C>T rs376836914 0.00060
NM_020964.3(EPG5):c.2303A>G (p.Asn768Ser) rs61736031 0.00059
NM_020964.3(EPG5):c.3608G>A (p.Arg1203Gln) rs200186919 0.00050
NM_020964.3(EPG5):c.1029G>C (p.Val343=) rs373995336 0.00041
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=) rs368086133 0.00041
NM_020964.3(EPG5):c.3385-18T>C rs375026896 0.00039
NM_020964.3(EPG5):c.4544C>T (p.Thr1515Met) rs199811412 0.00038
NM_020964.3(EPG5):c.3313C>T (p.His1105Tyr) rs200305944 0.00037
NM_020964.3(EPG5):c.6480G>A (p.Ser2160=) rs142224776 0.00034
NM_020964.3(EPG5):c.5668-15A>G rs755258249 0.00031
NM_020964.3(EPG5):c.4258G>A (p.Asp1420Asn) rs377196959 0.00026
NM_020964.3(EPG5):c.5310T>C (p.Asp1770=) rs376326191 0.00025
NM_020964.3(EPG5):c.1609G>A (p.Glu537Lys) rs183660877 0.00023
NM_020964.3(EPG5):c.1944-3C>T rs376498905 0.00022
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_020964.3(EPG5):c.3235G>A (p.Glu1079Lys) rs199586840 0.00017
NM_020964.3(EPG5):c.6147C>T (p.Tyr2049=) rs371980254 0.00017
NM_020964.3(EPG5):c.4650C>T (p.Thr1550=) rs748583309 0.00016
NM_020964.3(EPG5):c.6855A>T (p.Ala2285=) rs375424781 0.00016
NM_020964.3(EPG5):c.4802C>T (p.Thr1601Met) rs200576622 0.00015
NM_020964.3(EPG5):c.7059G>A (p.Gln2353=) rs368846817 0.00015
NM_020964.3(EPG5):c.151C>G (p.Leu51Val) rs188069373 0.00014
NM_020964.3(EPG5):c.2013C>T (p.Ala671=) rs536068618 0.00014
NM_020964.3(EPG5):c.3280G>A (p.Gly1094Ser) rs200966889 0.00014
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104 0.00014
NM_020964.3(EPG5):c.2100-7C>T rs191189597 0.00013
NM_020964.3(EPG5):c.7311C>T (p.Ser2437=) rs377487870 0.00013
NM_020964.3(EPG5):c.2413-16C>T rs550407878 0.00012
NM_020964.3(EPG5):c.306C>T (p.Pro102=) rs368868174 0.00011
NM_020964.3(EPG5):c.5273A>G (p.Asn1758Ser) rs143519809 0.00011
NM_020964.3(EPG5):c.6069T>C (p.Asp2023=) rs372121696 0.00011
NM_020964.3(EPG5):c.858C>T (p.Asp286=) rs368125864 0.00011
NM_020964.3(EPG5):c.2304T>C (p.Asn768=) rs200019611 0.00010
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00009
NM_020964.3(EPG5):c.2761T>C (p.Leu921=) rs376268597 0.00009
NM_020964.3(EPG5):c.4206-16T>C rs377650059 0.00009
NM_020964.3(EPG5):c.5328C>T (p.Ser1776=) rs200449609 0.00009
NM_020964.3(EPG5):c.57A>G (p.Lys19=) rs756684551 0.00009
NM_020964.3(EPG5):c.5869+12C>T rs375719080 0.00009
NM_020964.3(EPG5):c.6050-20A>G rs746867701 0.00009
NM_020964.3(EPG5):c.6951G>A (p.Ala2317=) rs369725381 0.00009
NM_020964.3(EPG5):c.3567C>T (p.Leu1189=) rs757349087 0.00008
NM_020964.3(EPG5):c.5541C>T (p.Ser1847=) rs775740914 0.00008
NM_020964.3(EPG5):c.6225+18G>A rs557371930 0.00008
NM_020964.3(EPG5):c.1395C>T (p.Ser465=) rs374133150 0.00007
NM_020964.3(EPG5):c.1418C>T (p.Pro473Leu) rs189145719 0.00007
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194 0.00007
NM_020964.3(EPG5):c.4621C>T (p.Leu1541=) rs1321980926 0.00007
NM_020964.3(EPG5):c.6462T>C (p.His2154=) rs374657166 0.00007
NM_020964.3(EPG5):c.6621+20A>G rs371591029 0.00007
NM_020964.3(EPG5):c.1081C>T (p.Leu361=) rs777877311 0.00006
NM_020964.3(EPG5):c.2529A>G (p.Gln843=) rs780942299 0.00006
NM_020964.3(EPG5):c.3129A>G (p.Pro1043=) rs113333959 0.00006
NM_020964.3(EPG5):c.3249G>A (p.Ser1083=) rs368705336 0.00006
NM_020964.3(EPG5):c.3498C>G (p.Leu1166=) rs771587084 0.00006
NM_020964.3(EPG5):c.4431C>G (p.Pro1477=) rs202107707 0.00006
NM_020964.3(EPG5):c.5109+16C>T rs759443683 0.00006
NM_020964.3(EPG5):c.5667+16T>C rs759655586 0.00006
NM_020964.3(EPG5):c.6360C>T (p.Leu2120=) rs373515613 0.00006
NM_020964.3(EPG5):c.6766+9C>A rs374517571 0.00006
NM_020964.3(EPG5):c.1857A>T (p.Ser619=) rs543352996 0.00005
NM_020964.3(EPG5):c.2079A>G (p.Leu693=) rs769308318 0.00005
NM_020964.3(EPG5):c.2958G>A (p.Pro986=) rs576591054 0.00005
NM_020964.3(EPG5):c.4646+12C>A rs577902553 0.00005
NM_020964.3(EPG5):c.4989T>G (p.Pro1663=) rs759914920 0.00005
NM_020964.3(EPG5):c.6225+17C>T rs568802919 0.00005
NM_020964.3(EPG5):c.6546T>C (p.Ser2182=) rs376544185 0.00005
NM_020964.3(EPG5):c.7017C>T (p.Leu2339=) rs2048570118 0.00005
NM_020964.3(EPG5):c.7068G>A (p.Glu2356=) rs759227711 0.00005
NM_020964.3(EPG5):c.7227-15C>T rs755680208 0.00005
NM_020964.3(EPG5):c.7458C>T (p.Ala2486=) rs374322299 0.00005
NM_020964.3(EPG5):c.876G>A (p.Glu292=) rs372088946 0.00005
NM_020964.3(EPG5):c.1011T>G (p.Gly337=) rs187606757 0.00004
NM_020964.3(EPG5):c.1869T>C (p.Leu623=) rs751209508 0.00004
NM_020964.3(EPG5):c.2073T>C (p.Ala691=) rs748747353 0.00004
NM_020964.3(EPG5):c.2232C>T (p.Pro744=) rs373389232 0.00004
NM_020964.3(EPG5):c.2583T>C (p.Pro861=) rs781036678 0.00004
NM_020964.3(EPG5):c.3093C>T (p.Gly1031=) rs757078802 0.00004
NM_020964.3(EPG5):c.3942G>A (p.Lys1314=) rs571017810 0.00004
NM_020964.3(EPG5):c.5037C>T (p.Tyr1679=) rs374671966 0.00004
NM_020964.3(EPG5):c.5305-11T>C rs756036509 0.00004
NM_020964.3(EPG5):c.5385A>T (p.Ala1795=) rs376809635 0.00004
NM_020964.3(EPG5):c.5610G>A (p.Ala1870=) rs763286364 0.00004
NM_020964.3(EPG5):c.6366C>T (p.Phe2122=) rs374063690 0.00004
NM_020964.3(EPG5):c.6519G>A (p.Pro2173=) rs762400421 0.00004
NM_020964.3(EPG5):c.6621+13G>A rs781195592 0.00004
NM_020964.3(EPG5):c.6837C>T (p.Asn2279=) rs377043340 0.00004
NM_020964.3(EPG5):c.7155C>T (p.Ser2385=) rs376292945 0.00004
NM_020964.3(EPG5):c.7230C>T (p.Ser2410=) rs556306651 0.00004
NM_020964.3(EPG5):c.7302G>A (p.Gln2434=) rs140297677 0.00004
NM_020964.3(EPG5):c.7323A>G (p.Glu2441=) rs984105833 0.00004
NM_020964.3(EPG5):c.7442+17C>G rs200371582 0.00004
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00003
NM_020964.3(EPG5):c.2412+14G>T rs775793154 0.00003
NM_020964.3(EPG5):c.2424C>T (p.Val808=) rs376583998 0.00003
NM_020964.3(EPG5):c.2571T>C (p.Phe857=) rs746667054 0.00003
NM_020964.3(EPG5):c.2619G>A (p.Ala873=) rs765818036 0.00003
NM_020964.3(EPG5):c.2838+13C>G rs770355758 0.00003
NM_020964.3(EPG5):c.2940C>T (p.Asn980=) rs753235376 0.00003
NM_020964.3(EPG5):c.3351G>A (p.Gly1117=) rs371129822 0.00003
NM_020964.3(EPG5):c.3693+8A>G rs367663640 0.00003
NM_020964.3(EPG5):c.4205+9G>A rs769965368 0.00003
NM_020964.3(EPG5):c.4233A>G (p.Leu1411=) rs754923921 0.00003
NM_020964.3(EPG5):c.4443C>T (p.Ser1481=) rs201117195 0.00003
NM_020964.3(EPG5):c.4596C>T (p.Asp1532=) rs201777260 0.00003
NM_020964.3(EPG5):c.5869+13T>C rs750598723 0.00003
NM_020964.3(EPG5):c.5869+17G>A rs781258407 0.00003
NM_020964.3(EPG5):c.5943-19G>A rs374965833 0.00003
NM_020964.3(EPG5):c.7009+15T>C rs538932953 0.00003
NM_020964.3(EPG5):c.7287C>T (p.Leu2429=) rs771719040 0.00003
NM_020964.3(EPG5):c.7557+19G>A rs563721463 0.00003
NM_020964.3(EPG5):c.1005A>C (p.Val335=) rs373730714 0.00002
NM_020964.3(EPG5):c.1252+17G>A rs1302612297 0.00002
NM_020964.3(EPG5):c.150T>G (p.Ser50=) rs368060363 0.00002
NM_020964.3(EPG5):c.1542A>G (p.Gln514=) rs375859542 0.00002
NM_020964.3(EPG5):c.1653G>A (p.Thr551=) rs766009435 0.00002
NM_020964.3(EPG5):c.1656A>G (p.Leu552=) rs760250975 0.00002
NM_020964.3(EPG5):c.1779G>T (p.Gly593=) rs1026879818 0.00002
NM_020964.3(EPG5):c.1845C>T (p.Ala615=) rs779948865 0.00002
NM_020964.3(EPG5):c.2124C>T (p.Ser708=) rs571198688 0.00002
NM_020964.3(EPG5):c.2196C>T (p.Ser732=) rs775095237 0.00002
NM_020964.3(EPG5):c.2257+11G>A rs375688315 0.00002
NM_020964.3(EPG5):c.2700T>C (p.Asn900=) rs757822003 0.00002
NM_020964.3(EPG5):c.3426C>T (p.Pro1142=) rs777286012 0.00002
NM_020964.3(EPG5):c.3576A>G (p.Gln1192=) rs200785029 0.00002
NM_020964.3(EPG5):c.3583-18C>T rs1451009011 0.00002
NM_020964.3(EPG5):c.3583-7G>C rs1372657836 0.00002
NM_020964.3(EPG5):c.36G>A (p.Lys12=) rs567983156 0.00002
NM_020964.3(EPG5):c.3816+17T>A rs768639138 0.00002
NM_020964.3(EPG5):c.3852A>G (p.Pro1284=) rs748870233 0.00002
NM_020964.3(EPG5):c.4205+11T>C rs748084699 0.00002
NM_020964.3(EPG5):c.4474+15C>T rs754410371 0.00002
NM_020964.3(EPG5):c.4474+20G>A rs756686006 0.00002
NM_020964.3(EPG5):c.4646+18C>T rs778143898 0.00002
NM_020964.3(EPG5):c.4695G>A (p.Leu1565=) rs1346489567 0.00002
NM_020964.3(EPG5):c.4770C>T (p.Ser1590=) rs199832672 0.00002
NM_020964.3(EPG5):c.4803G>A (p.Thr1601=) rs758455820 0.00002
NM_020964.3(EPG5):c.4953-14A>G rs1212913507 0.00002
NM_020964.3(EPG5):c.5238G>A (p.Leu1746=) rs764180133 0.00002
NM_020964.3(EPG5):c.5307C>T (p.Phe1769=) rs369940983 0.00002
NM_020964.3(EPG5):c.5472C>T (p.Tyr1824=) rs909725535 0.00002
NM_020964.3(EPG5):c.5518+15T>A rs372157962 0.00002
NM_020964.3(EPG5):c.5518+7G>T rs1264216973 0.00002
NM_020964.3(EPG5):c.5799C>T (p.Tyr1933=) rs1021800873 0.00002
NM_020964.3(EPG5):c.5869+8A>G rs769194695 0.00002
NM_020964.3(EPG5):c.6057G>A (p.Leu2019=) rs753341470 0.00002
NM_020964.3(EPG5):c.63+7A>C rs372285234 0.00002
NM_020964.3(EPG5):c.6397C>T (p.Leu2133=) rs569509306 0.00002
NM_020964.3(EPG5):c.6405C>T (p.Asp2135=) rs529733045 0.00002
NM_020964.3(EPG5):c.6767-19G>A rs1241299107 0.00002
NM_020964.3(EPG5):c.7065C>T (p.Pro2355=) rs551726903 0.00002
NM_020964.3(EPG5):c.7158A>G (p.Glu2386=) rs745920832 0.00002
NM_020964.3(EPG5):c.7191C>T (p.Leu2397=) rs766126331 0.00002
NM_020964.3(EPG5):c.7226+14C>T rs772073357 0.00002
NM_020964.3(EPG5):c.7410T>A (p.Ile2470=) rs768733850 0.00002
NM_020964.3(EPG5):c.7542C>T (p.Thr2514=) rs776306978 0.00002
NM_020964.3(EPG5):c.7692C>T (p.Leu2564=) rs747189808 0.00002
NM_020964.3(EPG5):c.7707T>C (p.Tyr2569=) rs750243664 0.00002
NM_020964.3(EPG5):c.78T>C (p.Tyr26=) rs1254842606 0.00002
NM_020964.3(EPG5):c.822A>G (p.Ser274=) rs2512124160 0.00002
NM_020964.3(EPG5):c.1008+16G>A rs938976280 0.00001
NM_020964.3(EPG5):c.1008+18C>G rs753721246 0.00001
NM_020964.3(EPG5):c.1009-17T>A rs369721234 0.00001
NM_020964.3(EPG5):c.1009-20A>G rs1171564791 0.00001
NM_020964.3(EPG5):c.1009-9C>T rs1229012060 0.00001
NM_020964.3(EPG5):c.1014C>T (p.Ile338=) rs1318299870 0.00001
NM_020964.3(EPG5):c.1056A>G (p.Gln352=) rs564612819 0.00001
NM_020964.3(EPG5):c.1098G>A (p.Lys366=) rs532788286 0.00001
NM_020964.3(EPG5):c.1152T>C (p.Tyr384=) rs775196944 0.00001
NM_020964.3(EPG5):c.1161G>T (p.Val387=) rs1245845621 0.00001
NM_020964.3(EPG5):c.123A>G (p.Lys41=) rs1310621423 0.00001
NM_020964.3(EPG5):c.1390-6G>A rs1416055166 0.00001
NM_020964.3(EPG5):c.1446T>C (p.His482=) rs1345031210 0.00001
NM_020964.3(EPG5):c.1545C>G (p.Ser515=) rs1290525573 0.00001
NM_020964.3(EPG5):c.1608C>T (p.Ser536=) rs527293119 0.00001
NM_020964.3(EPG5):c.1620A>G (p.Pro540=) rs752639374 0.00001
NM_020964.3(EPG5):c.1626C>T (p.Ser542=) rs904283996 0.00001
NM_020964.3(EPG5):c.1632G>A (p.Gly544=) rs2050789973 0.00001
NM_020964.3(EPG5):c.1662C>T (p.Asp554=) rs1286762760 0.00001
NM_020964.3(EPG5):c.1677+17G>T rs148486293 0.00001
NM_020964.3(EPG5):c.1678-6C>G rs753777979 0.00001
NM_020964.3(EPG5):c.1719T>C (p.Asp573=) rs764693845 0.00001
NM_020964.3(EPG5):c.1749C>T (p.Pro583=) rs746257883 0.00001
NM_020964.3(EPG5):c.1792+15C>T rs2050732802 0.00001
NM_020964.3(EPG5):c.1793-19T>C rs763642437 0.00001
NM_020964.3(EPG5):c.1818A>G (p.Arg606=) rs1322081010 0.00001
NM_020964.3(EPG5):c.1896T>C (p.Asn632=) rs372581222 0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val) rs745736928 0.00001
NM_020964.3(EPG5):c.1943+18C>T rs1326536792 0.00001
NM_020964.3(EPG5):c.1944-9C>T rs2050621581 0.00001
NM_020964.3(EPG5):c.1971T>C (p.His657=) rs1390637838 0.00001
NM_020964.3(EPG5):c.1977A>C (p.Ala659=) rs1568173471 0.00001
NM_020964.3(EPG5):c.1980G>A (p.Gln660=) rs1447381142 0.00001
NM_020964.3(EPG5):c.1989C>T (p.Ser663=) rs368887661 0.00001
NM_020964.3(EPG5):c.1992T>C (p.His664=) rs377198936 0.00001
NM_020964.3(EPG5):c.1998A>G (p.Gln666=) rs757641552 0.00001
NM_020964.3(EPG5):c.2016A>G (p.Gln672=) rs762927573 0.00001
NM_020964.3(EPG5):c.2052T>C (p.Phe684=) rs1431174470 0.00001
NM_020964.3(EPG5):c.2099+11C>T rs200129838 0.00001
NM_020964.3(EPG5):c.2099+12A>G rs534978097 0.00001
NM_020964.3(EPG5):c.2099+14A>T rs1388070695 0.00001
NM_020964.3(EPG5):c.2158C>T (p.Leu720=) rs1474079806 0.00001
NM_020964.3(EPG5):c.2190G>A (p.Val730=) rs1312825565 0.00001
NM_020964.3(EPG5):c.2217C>T (p.Ser739=) rs1017399233 0.00001
NM_020964.3(EPG5):c.2257+13C>T rs1022986578 0.00001
NM_020964.3(EPG5):c.2257+19G>A rs1412343479 0.00001
NM_020964.3(EPG5):c.2258-11T>C rs1014193138 0.00001
NM_020964.3(EPG5):c.2258-12A>G rs2145819905 0.00001
NM_020964.3(EPG5):c.2262A>G (p.Pro754=) rs1015625157 0.00001
NM_020964.3(EPG5):c.2274C>T (p.Thr758=) rs1280940380 0.00001
NM_020964.3(EPG5):c.2316G>A (p.Glu772=) rs1306800052 0.00001
NM_020964.3(EPG5):c.2364C>T (p.Thr788=) rs753457746 0.00001
NM_020964.3(EPG5):c.2413-11C>A rs2050340703 0.00001
NM_020964.3(EPG5):c.2413-12C>T rs371292227 0.00001
NM_020964.3(EPG5):c.2413-14T>C rs1412984034 0.00001
NM_020964.3(EPG5):c.2421T>C (p.Tyr807=) rs994782777 0.00001
NM_020964.3(EPG5):c.2433T>C (p.Ser811=) rs764750828 0.00001
NM_020964.3(EPG5):c.246T>C (p.Asp82=) rs1044415346 0.00001
NM_020964.3(EPG5):c.2508C>T (p.Ser836=) rs750004476 0.00001
NM_020964.3(EPG5):c.2553+18G>A rs776694155 0.00001
NM_020964.3(EPG5):c.255C>T (p.Leu85=) rs201072808 0.00001
NM_020964.3(EPG5):c.2679T>C (p.Cys893=) rs1218990203 0.00001
NM_020964.3(EPG5):c.2682T>C (p.Val894=) rs776504642 0.00001
NM_020964.3(EPG5):c.2718+15C>A rs2050252535 0.00001
NM_020964.3(EPG5):c.2719-11C>T rs1355537575 0.00001
NM_020964.3(EPG5):c.2724C>A (p.Thr908=) rs1242696420 0.00001
NM_020964.3(EPG5):c.2745C>T (p.Val915=) rs1186493680 0.00001
NM_020964.3(EPG5):c.2751T>C (p.Ala917=) rs1599580570 0.00001
NM_020964.3(EPG5):c.2763A>G (p.Leu921=) rs1462083363 0.00001
NM_020964.3(EPG5):c.276T>C (p.Asn92=) rs755000860 0.00001
NM_020964.3(EPG5):c.2784G>A (p.Gln928=) rs1252516727 0.00001
NM_020964.3(EPG5):c.2868T>C (p.Tyr956=) rs762448921 0.00001
NM_020964.3(EPG5):c.2871A>G (p.Gly957=) rs1324095972 0.00001
NM_020964.3(EPG5):c.2898A>G (p.Gln966=) rs777041802 0.00001
NM_020964.3(EPG5):c.2904C>G (p.Ala968=) rs1454534885 0.00001
NM_020964.3(EPG5):c.2976C>A (p.Pro992=) rs1306855569 0.00001
NM_020964.3(EPG5):c.2982C>T (p.Ser994=) rs201209457 0.00001
NM_020964.3(EPG5):c.3027C>G (p.Leu1009=) rs771404859 0.00001
NM_020964.3(EPG5):c.3045G>A (p.Ala1015=) rs772585558 0.00001
NM_020964.3(EPG5):c.3098+14C>T rs1250164286 0.00001
NM_020964.3(EPG5):c.3098+15T>C rs758224026 0.00001
NM_020964.3(EPG5):c.3098+18A>T rs752320871 0.00001
NM_020964.3(EPG5):c.3111C>T (p.Phe1037=) rs749530881 0.00001
NM_020964.3(EPG5):c.3133T>C (p.Leu1045=) rs2050066407 0.00001
NM_020964.3(EPG5):c.3258C>T (p.Leu1086=) rs1482148787 0.00001
NM_020964.3(EPG5):c.3357C>T (p.Asn1119=) rs202137313 0.00001
NM_020964.3(EPG5):c.3384+16G>A rs1319186399 0.00001
NM_020964.3(EPG5):c.3384+17C>T rs1308204102 0.00001
NM_020964.3(EPG5):c.3385-13C>T rs753163836 0.00001
NM_020964.3(EPG5):c.3385-7T>C rs571924332 0.00001
NM_020964.3(EPG5):c.3435G>A (p.Val1145=) rs963294372 0.00001
NM_020964.3(EPG5):c.3441G>A (p.Glu1147=) rs755321821 0.00001
NM_020964.3(EPG5):c.3583-10C>T rs1354144750 0.00001
NM_020964.3(EPG5):c.3583-6G>A rs747253513 0.00001
NM_020964.3(EPG5):c.3583-8C>T rs757359611 0.00001
NM_020964.3(EPG5):c.3585T>C (p.Asn1195=) rs1482375160 0.00001
NM_020964.3(EPG5):c.3597C>T (p.Tyr1199=) rs1329906309 0.00001
NM_020964.3(EPG5):c.3651C>T (p.Asn1217=) rs776913369 0.00001
NM_020964.3(EPG5):c.3684G>C (p.Thr1228=) rs1278860724 0.00001
NM_020964.3(EPG5):c.3694-4A>G rs752369112 0.00001
NM_020964.3(EPG5):c.369C>T (p.His123=) rs756190726 0.00001
NM_020964.3(EPG5):c.3747C>T (p.Ser1249=) rs370662035 0.00001
NM_020964.3(EPG5):c.375A>G (p.Gly125=) rs1444139900 0.00001
NM_020964.3(EPG5):c.3807A>G (p.Gln1269=) rs897520700 0.00001
NM_020964.3(EPG5):c.3816+11C>G rs887522742 0.00001
NM_020964.3(EPG5):c.3817-9T>G rs1211673128 0.00001
NM_020964.3(EPG5):c.381T>C (p.Asn127=) rs150022709 0.00001
NM_020964.3(EPG5):c.3825G>A (p.Gln1275=) rs771780755 0.00001
NM_020964.3(EPG5):c.390T>C (p.Thr130=) rs752477264 0.00001
NM_020964.3(EPG5):c.393A>G (p.Lys131=) rs754739319 0.00001
NM_020964.3(EPG5):c.3969G>A (p.Pro1323=) rs373218143 0.00001
NM_020964.3(EPG5):c.3983+17T>C rs780561691 0.00001
NM_020964.3(EPG5):c.3984-10G>T rs1382561435 0.00001
NM_020964.3(EPG5):c.4023A>G (p.Gln1341=) rs372736170 0.00001
NM_020964.3(EPG5):c.4062A>G (p.Arg1354=) rs756098385 0.00001
NM_020964.3(EPG5):c.4066T>C (p.Leu1356=) rs1353067965 0.00001
NM_020964.3(EPG5):c.4071C>T (p.Thr1357=) rs763870509 0.00001
NM_020964.3(EPG5):c.4155T>C (p.Ser1385=) rs571870345 0.00001
NM_020964.3(EPG5):c.4173G>T (p.Leu1391=) rs1478022515 0.00001
NM_020964.3(EPG5):c.4186C>T (p.Leu1396=) rs2049867434 0.00001
NM_020964.3(EPG5):c.4191C>T (p.His1397=) rs774790764 0.00001
NM_020964.3(EPG5):c.4205+7A>T rs376652885 0.00001
NM_020964.3(EPG5):c.4206-15G>A rs1283815764 0.00001
NM_020964.3(EPG5):c.4260T>C (p.Asp1420=) rs1157636919 0.00001
NM_020964.3(EPG5):c.4284G>A (p.Lys1428=) rs895491529 0.00001
NM_020964.3(EPG5):c.4329+13C>T rs1286993357 0.00001
NM_020964.3(EPG5):c.4329+14C>A rs2049795695 0.00001
NM_020964.3(EPG5):c.4329+20T>G rs963727204 0.00001
NM_020964.3(EPG5):c.4330-14T>C rs1403732221 0.00001
NM_020964.3(EPG5):c.4374G>A (p.Glu1458=) rs1443970703 0.00001
NM_020964.3(EPG5):c.4413T>C (p.Leu1471=) rs774537425 0.00001
NM_020964.3(EPG5):c.4474+19T>A rs1202832069 0.00001
NM_020964.3(EPG5):c.4474+9T>C rs754492157 0.00001
NM_020964.3(EPG5):c.4475-20A>G rs1181016789 0.00001
NM_020964.3(EPG5):c.450A>G (p.Gly150=) rs777737049 0.00001
NM_020964.3(EPG5):c.4527C>T (p.Pro1509=) rs765272578 0.00001
NM_020964.3(EPG5):c.4545G>A (p.Thr1515=) rs768482660 0.00001
NM_020964.3(EPG5):c.4611G>A (p.Val1537=) rs973368539 0.00001
NM_020964.3(EPG5):c.4614C>T (p.Cys1538=) rs1203610505 0.00001
NM_020964.3(EPG5):c.4646+10T>C rs776197663 0.00001
NM_020964.3(EPG5):c.4646+19A>G rs1446031119 0.00001
NM_020964.3(EPG5):c.4646+9A>G rs745305665 0.00001
NM_020964.3(EPG5):c.4659T>C (p.Leu1553=) rs1224300680 0.00001
NM_020964.3(EPG5):c.4677T>A (p.Val1559=) rs756211681 0.00001
NM_020964.3(EPG5):c.4680T>C (p.Ala1560=) rs1286457057 0.00001
NM_020964.3(EPG5):c.468C>G (p.Pro156=) rs2050991444 0.00001
NM_020964.3(EPG5):c.471A>G (p.Gln157=) rs200644937 0.00001
NM_020964.3(EPG5):c.4845A>G (p.Gln1615=) rs771092981 0.00001
NM_020964.3(EPG5):c.4968C>G (p.Ala1656=) rs371896302 0.00001
NM_020964.3(EPG5):c.5007C>T (p.Gly1669=) rs760786906 0.00001
NM_020964.3(EPG5):c.5028T>C (p.Ile1676=) rs1346661334 0.00001
NM_020964.3(EPG5):c.5109+9A>C rs189883488 0.00001
NM_020964.3(EPG5):c.5110-16T>C rs1382462163 0.00001
NM_020964.3(EPG5):c.5110-18C>T rs1013136076 0.00001
NM_020964.3(EPG5):c.5157C>T (p.Thr1719=) rs1258923662 0.00001
NM_020964.3(EPG5):c.5161C>T (p.Leu1721=) rs764123084 0.00001
NM_020964.3(EPG5):c.5244G>A (p.Glu1748=) rs376264524 0.00001
NM_020964.3(EPG5):c.5289C>T (p.Phe1763=) rs2511608075 0.00001
NM_020964.3(EPG5):c.5301C>G (p.Thr1767=) rs1163327702 0.00001
NM_020964.3(EPG5):c.5304+18C>T rs534430922 0.00001
NM_020964.3(EPG5):c.5400C>A (p.Gly1800=) rs961209449 0.00001
NM_020964.3(EPG5):c.5439T>C (p.Leu1813=) rs1284639599 0.00001
NM_020964.3(EPG5):c.5460T>C (p.Tyr1820=) rs1328890692 0.00001
NM_020964.3(EPG5):c.5466T>C (p.Leu1822=) rs1252216620 0.00001
NM_020964.3(EPG5):c.5518+13A>G rs1182793566 0.00001
NM_020964.3(EPG5):c.5518+15T>G rs372157962 0.00001
NM_020964.3(EPG5):c.5519-15T>C rs2511578359 0.00001
NM_020964.3(EPG5):c.5519-9T>G rs968394366 0.00001
NM_020964.3(EPG5):c.5526G>A (p.Ala1842=) rs749486885 0.00001
NM_020964.3(EPG5):c.552C>G (p.Gly184=) rs1599649645 0.00001
NM_020964.3(EPG5):c.5550T>C (p.Cys1850=) rs1003005511 0.00001
NM_020964.3(EPG5):c.5589C>G (p.Pro1863=) rs749900326 0.00001
NM_020964.3(EPG5):c.5622C>T (p.Gly1874=) rs772095809 0.00001
NM_020964.3(EPG5):c.5664G>A (p.Lys1888=) rs370568490 0.00001
NM_020964.3(EPG5):c.5667+17C>G rs776811552 0.00001
NM_020964.3(EPG5):c.5667+18T>C rs770868933 0.00001
NM_020964.3(EPG5):c.5676G>A (p.Glu1892=) rs764071067 0.00001
NM_020964.3(EPG5):c.5697C>T (p.Asp1899=) rs753791472 0.00001
NM_020964.3(EPG5):c.5754A>C (p.Ser1918=) rs1031904479 0.00001
NM_020964.3(EPG5):c.5790C>T (p.Phe1930=) rs1377219038 0.00001
NM_020964.3(EPG5):c.5811G>A (p.Arg1937=) rs767549570 0.00001
NM_020964.3(EPG5):c.5865A>G (p.Lys1955=) rs369326039 0.00001
NM_020964.3(EPG5):c.5869+15A>C rs1306258202 0.00001
NM_020964.3(EPG5):c.5869+20A>T rs765142313 0.00001
NM_020964.3(EPG5):c.5870-16_5870-14del rs1353548453 0.00001
NM_020964.3(EPG5):c.5872C>T (p.Leu1958=) rs374326658 0.00001
NM_020964.3(EPG5):c.5886T>C (p.His1962=) rs766100511 0.00001
NM_020964.3(EPG5):c.5942+10T>A rs763388380 0.00001
NM_020964.3(EPG5):c.5949A>G (p.Gln1983=) rs909993678 0.00001
NM_020964.3(EPG5):c.5955G>A (p.Arg1985=) rs2511548065 0.00001
NM_020964.3(EPG5):c.5964C>T (p.Pro1988=) rs1238053321 0.00001
NM_020964.3(EPG5):c.6050-5T>C rs752296230 0.00001
NM_020964.3(EPG5):c.60A>G (p.Thr20=) rs1217843401 0.00001
NM_020964.3(EPG5):c.6132A>G (p.Pro2044=) rs1442587078 0.00001
NM_020964.3(EPG5):c.6171A>G (p.Lys2057=) rs2048850060 0.00001
NM_020964.3(EPG5):c.6174G>A (p.Leu2058=) rs779393410 0.00001
NM_020964.3(EPG5):c.6213G>A (p.Glu2071=) rs1799077479 0.00001
NM_020964.3(EPG5):c.6225+7C>G rs1367853038 0.00001
NM_020964.3(EPG5):c.6267G>A (p.Gly2089=) rs2048776668 0.00001
NM_020964.3(EPG5):c.6285C>G (p.Val2095=) rs753103028 0.00001
NM_020964.3(EPG5):c.63+13C>T rs932525874 0.00001
NM_020964.3(EPG5):c.64-15G>A rs1464624987 0.00001
NM_020964.3(EPG5):c.64-20A>G rs966182426 0.00001
NM_020964.3(EPG5):c.64-7T>C rs1186677098 0.00001
NM_020964.3(EPG5):c.6501T>C (p.Tyr2167=) rs200002882 0.00001
NM_020964.3(EPG5):c.6621+14T>C rs534033232 0.00001
NM_020964.3(EPG5):c.6645T>C (p.Ala2215=) rs756952948 0.00001
NM_020964.3(EPG5):c.6690T>C (p.Asn2230=) rs764974410 0.00001
NM_020964.3(EPG5):c.672T>C (p.Ala224=) rs549669517 0.00001
NM_020964.3(EPG5):c.6741C>T (p.Asp2247=) rs371606723 0.00001
NM_020964.3(EPG5):c.6747C>T (p.Ile2249=) rs769881603 0.00001
NM_020964.3(EPG5):c.6766+12G>T rs1252333867 0.00001
NM_020964.3(EPG5):c.6766+14C>T rs533238977 0.00001
NM_020964.3(EPG5):c.6766+15G>A rs755531149 0.00001
NM_020964.3(EPG5):c.6766+16G>C rs1265119893 0.00001
NM_020964.3(EPG5):c.6767-8C>T rs748817848 0.00001
NM_020964.3(EPG5):c.6783C>T (p.Thr2261=) rs1363843098 0.00001
NM_020964.3(EPG5):c.6840G>A (p.Ala2280=) rs1417250816 0.00001
NM_020964.3(EPG5):c.6882C>G (p.Thr2294=) rs543932630 0.00001
NM_020964.3(EPG5):c.6927A>G (p.Leu2309=) rs762613930 0.00001
NM_020964.3(EPG5):c.6954C>T (p.Ser2318=) rs188505096 0.00001
NM_020964.3(EPG5):c.6996C>T (p.Ala2332=) rs149296561 0.00001
NM_020964.3(EPG5):c.7010-10A>G rs1328392839 0.00001
NM_020964.3(EPG5):c.7053C>T (p.Ser2351=) rs2048569469 0.00001
NM_020964.3(EPG5):c.7089G>T (p.Leu2363=) rs2048568464 0.00001
NM_020964.3(EPG5):c.7128C>T (p.Tyr2376=) rs1407231862 0.00001
NM_020964.3(EPG5):c.720G>A (p.Glu240=) rs895791778 0.00001
NM_020964.3(EPG5):c.7212A>G (p.Glu2404=) rs1422066007 0.00001
NM_020964.3(EPG5):c.7221C>T (p.Tyr2407=) rs1477755722 0.00001
NM_020964.3(EPG5):c.7224A>G (p.Pro2408=) rs768938489 0.00001
NM_020964.3(EPG5):c.7227-12T>G rs1301241511 0.00001
NM_020964.3(EPG5):c.7245A>C (p.Ala2415=) rs1245397728 0.00001
NM_020964.3(EPG5):c.7293G>A (p.Gln2431=) rs917327725 0.00001
NM_020964.3(EPG5):c.732A>G (p.Pro244=) rs994903742 0.00001
NM_020964.3(EPG5):c.7374T>G (p.Ala2458=) rs2048549874 0.00001
NM_020964.3(EPG5):c.741G>A (p.Pro247=) rs765449856 0.00001
NM_020964.3(EPG5):c.7428G>A (p.Ser2476=) rs200441446 0.00001
NM_020964.3(EPG5):c.7442+10C>T rs756868817 0.00001
NM_020964.3(EPG5):c.7442+11G>A rs368361879 0.00001
NM_020964.3(EPG5):c.7442+9G>A rs780753748 0.00001
NM_020964.3(EPG5):c.7443-17T>A rs1254589381 0.00001
NM_020964.3(EPG5):c.7446C>T (p.Phe2482=) rs528308462 0.00001
NM_020964.3(EPG5):c.7558-12C>T rs778365667 0.00001
NM_020964.3(EPG5):c.7558-8T>C rs759398169 0.00001
NM_020964.3(EPG5):c.7569T>C (p.Ala2523=) rs760516751 0.00001
NM_020964.3(EPG5):c.7608C>T (p.Tyr2536=) rs773735885 0.00001
NM_020964.3(EPG5):c.7668T>C (p.Asp2556=) rs781647288 0.00001
NM_020964.3(EPG5):c.7702C>T (p.Leu2568=) rs766347502 0.00001
NM_020964.3(EPG5):c.930G>A (p.Glu310=) rs776545263 0.00001
NM_020964.3(EPG5):c.940C>T (p.Leu314=) rs770563943 0.00001
NM_020964.3(EPG5):c.945A>G (p.Thr315=) rs746594600 0.00001
NM_020964.3(EPG5):c.972G>T (p.Arg324=) rs563029581 0.00001
NM_020964.3(EPG5):c.1008+12A>G rs759581799
NM_020964.3(EPG5):c.1008+18C>A rs753721246
NM_020964.3(EPG5):c.1008+20G>T rs2512121454
NM_020964.3(EPG5):c.1009-14T>C rs1322414579
NM_020964.3(EPG5):c.1009-18C>G rs1372679077
NM_020964.3(EPG5):c.1017T>C (p.Cys339=)
NM_020964.3(EPG5):c.1029G>A (p.Val343=) rs373995336
NM_020964.3(EPG5):c.1053C>T (p.Tyr351=) rs2512105700
NM_020964.3(EPG5):c.1059A>G (p.Arg353=) rs1599644906
NM_020964.3(EPG5):c.1077T>C (p.Asn359=)
NM_020964.3(EPG5):c.1080A>C (p.Ala360=) rs2050936033
NM_020964.3(EPG5):c.1110C>T (p.Ala370=) rs2050935154
NM_020964.3(EPG5):c.1113A>G (p.Lys371=) rs747186002
NM_020964.3(EPG5):c.1135C>T (p.Leu379=) rs979490125
NM_020964.3(EPG5):c.1164C>T (p.Leu388=) rs1381132534
NM_020964.3(EPG5):c.1188C>T (p.Tyr396=) rs773448279
NM_020964.3(EPG5):c.1203C>T (p.Leu401=) rs2512103681
NM_020964.3(EPG5):c.1212A>C (p.Ser404=) rs2143745666
NM_020964.3(EPG5):c.1239C>T (p.His413=) rs991123123
NM_020964.3(EPG5):c.1245A>G (p.Gln415=) rs1404935327
NM_020964.3(EPG5):c.1252+15A>G
NM_020964.3(EPG5):c.126C>G (p.Thr42=) rs778114558
NM_020964.3(EPG5):c.12G>C (p.Ala4=) rs545101317
NM_020964.3(EPG5):c.12G>T (p.Ala4=) rs545101317
NM_020964.3(EPG5):c.135G>A (p.Glu45=) rs370173694
NM_020964.3(EPG5):c.1390-13C>T rs897624471
NM_020964.3(EPG5):c.1390-20A>T rs1368126316
NM_020964.3(EPG5):c.1390-21_1390-20delinsAT rs2512074751
NM_020964.3(EPG5):c.1390-5T>C rs1555680767
NM_020964.3(EPG5):c.1392A>G (p.Val464=) rs2050859547
NM_020964.3(EPG5):c.1401A>G (p.Leu467=) rs1176818060
NM_020964.3(EPG5):c.1428C>T (p.His476=) rs2143695152
NM_020964.3(EPG5):c.1434C>T (p.Phe478=) rs2512073837
NM_020964.3(EPG5):c.1443C>T (p.Asn481=) rs2512073740
NM_020964.3(EPG5):c.1497+10del rs2512072889
NM_020964.3(EPG5):c.1497+16A>C rs1266617084
NM_020964.3(EPG5):c.1497+17A>G
NM_020964.3(EPG5):c.1497+20C>T rs2143693741
NM_020964.3(EPG5):c.1497+8G>A rs2512072922
NM_020964.3(EPG5):c.1498-14T>C rs778986561
NM_020964.3(EPG5):c.150T>C (p.Ser50=) rs368060363
NM_020964.3(EPG5):c.1527C>T (p.Val509=) rs2512064389
NM_020964.3(EPG5):c.1530T>C (p.Phe510=) rs141397058
NM_020964.3(EPG5):c.1533T>C (p.His511=) rs2512064251
NM_020964.3(EPG5):c.1551C>G (p.Ala517=) rs778227325
NM_020964.3(EPG5):c.1571+10C>T rs2512063597
NM_020964.3(EPG5):c.1571+20G>A rs2145941626
NM_020964.3(EPG5):c.1572-12C>T rs1183510332
NM_020964.3(EPG5):c.1572-4T>G rs2050791585
NM_020964.3(EPG5):c.1596C>T (p.His532=) rs2512046929
NM_020964.3(EPG5):c.1617G>A (p.Lys539=) rs2145928566
NM_020964.3(EPG5):c.1626C>A (p.Ser542=) rs904283996
NM_020964.3(EPG5):c.1638G>A (p.Gly546=) rs1410683666
NM_020964.3(EPG5):c.1641T>G (p.Ser547=) rs2145928339
NM_020964.3(EPG5):c.1677+10C>T rs1328765505
NM_020964.3(EPG5):c.1677+7T>C
NM_020964.3(EPG5):c.1677+8G>T rs2050788851
NM_020964.3(EPG5):c.1678-12C>T
NM_020964.3(EPG5):c.1678-4T>A rs766101598
NM_020964.3(EPG5):c.1678-6C>T rs753777979
NM_020964.3(EPG5):c.1678-7C>T rs2050737286
NM_020964.3(EPG5):c.1707C>A (p.Leu569=) rs1445665065
NM_020964.3(EPG5):c.1713T>C (p.Asn571=) rs1364153002
NM_020964.3(EPG5):c.177T>C (p.His59=) rs2512132071
NM_020964.3(EPG5):c.1792+14T>C rs2050732856
NM_020964.3(EPG5):c.1793-4C>T rs2512016786
NM_020964.3(EPG5):c.1800T>C (p.Tyr600=) rs2089635607
NM_020964.3(EPG5):c.1875T>C (p.Ala625=) rs2512015912
NM_020964.3(EPG5):c.1920G>A (p.Val640=)
NM_020964.3(EPG5):c.1935T>C (p.Tyr645=) rs2050707898
NM_020964.3(EPG5):c.1943+20A>G rs2145905978
NM_020964.3(EPG5):c.1944-10T>C rs2511991909
NM_020964.3(EPG5):c.1944-12C>T rs1343650854
NM_020964.3(EPG5):c.1944-16C>A rs575676819
NM_020964.3(EPG5):c.1944-16C>G rs575676819
NM_020964.3(EPG5):c.1944-18_1944-16del rs2511991965
NM_020964.3(EPG5):c.2013C>G (p.Ala671=) rs536068618
NM_020964.3(EPG5):c.2019G>A (p.Gln673=) rs928367570
NM_020964.3(EPG5):c.2022C>G (p.Pro674=) rs760628080
NM_020964.3(EPG5):c.2076C>A (p.Val692=)
NM_020964.3(EPG5):c.2088G>A (p.Leu696=) rs2511990525
NM_020964.3(EPG5):c.2091G>A (p.Lys697=) rs2511990514
NM_020964.3(EPG5):c.2099+15T>G rs1599617309
NM_020964.3(EPG5):c.2099+19_2099+21del rs2050615336
NM_020964.3(EPG5):c.2099+8A>G rs2511990424
NM_020964.3(EPG5):c.2099+9G>A rs1599617384
NM_020964.3(EPG5):c.2100-12G>C rs2511955315
NM_020964.3(EPG5):c.2100-5T>C rs2050486050
NM_020964.3(EPG5):c.2124C>G (p.Ser708=) rs571198688
NM_020964.3(EPG5):c.2139G>A (p.Gly713=) rs2050484777
NM_020964.3(EPG5):c.213T>C (p.Asp71=) rs1253979449
NM_020964.3(EPG5):c.2142T>C (p.Thr714=) rs2511954569
NM_020964.3(EPG5):c.2160G>A (p.Leu720=) rs752923334
NM_020964.3(EPG5):c.21C>T (p.Pro7=) rs1477393309
NM_020964.3(EPG5):c.2205G>A (p.Leu735=) rs1286730402
NM_020964.3(EPG5):c.2257+11G>T
NM_020964.3(EPG5):c.2257+14G>A rs904519700
NM_020964.3(EPG5):c.2257+17C>G
NM_020964.3(EPG5):c.2257+19G>C rs1412343479
NM_020964.3(EPG5):c.2257+8C>A rs779267206
NM_020964.3(EPG5):c.2258-6T>C rs748521018
NM_020964.3(EPG5):c.2258-9A>C
NM_020964.3(EPG5):c.2268T>C (p.His756=) rs2511922787
NM_020964.3(EPG5):c.2334C>A (p.Thr778=)
NM_020964.3(EPG5):c.2334C>G (p.Thr778=) rs200676427
NM_020964.3(EPG5):c.2403G>A (p.Glu801=) rs2050379301
NM_020964.3(EPG5):c.2412+14G>A rs775793154
NM_020964.3(EPG5):c.2412+8T>A rs1451661239
NM_020964.3(EPG5):c.2413-10C>A rs1207017592
NM_020964.3(EPG5):c.2413-12C>G rs371292227
NM_020964.3(EPG5):c.2413-16C>G rs550407878
NM_020964.3(EPG5):c.2413-19C>A
NM_020964.3(EPG5):c.2413-19C>T rs778861279
NM_020964.3(EPG5):c.2413-6A>G rs779751564
NM_020964.3(EPG5):c.2413-9C>T rs1394335237
NM_020964.3(EPG5):c.2439A>G (p.Arg813=) rs763399377
NM_020964.3(EPG5):c.2461C>A (p.Arg821=)
NM_020964.3(EPG5):c.2481C>T (p.Ile827=) rs778808120
NM_020964.3(EPG5):c.2493C>T (p.His831=) rs2050336691
NM_020964.3(EPG5):c.2499G>A (p.Glu833=) rs2511908433
NM_020964.3(EPG5):c.249A>C (p.Val83=) rs759140772
NM_020964.3(EPG5):c.2511C>A (p.Val837=) rs2511908326
NM_020964.3(EPG5):c.252A>T (p.Pro84=) rs771608247
NM_020964.3(EPG5):c.2553+9A>G rs759981741
NM_020964.3(EPG5):c.2554-16T>C rs2511887266
NM_020964.3(EPG5):c.2554-20A>G
NM_020964.3(EPG5):c.2554-20dup rs753312948
NM_020964.3(EPG5):c.2562A>G (p.Leu854=)
NM_020964.3(EPG5):c.2577A>G (p.Glu859=) rs74561023
NM_020964.3(EPG5):c.2601T>G (p.Pro867=) rs1400737444
NM_020964.3(EPG5):c.2604T>C (p.Ser868=) rs2511886802
NM_020964.3(EPG5):c.2622G>A (p.Val874=)
NM_020964.3(EPG5):c.2622G>C (p.Val874=) rs1250079188
NM_020964.3(EPG5):c.2646C>T (p.Tyr882=) rs2145782921
NM_020964.3(EPG5):c.2676C>T (p.Ala892=) rs745649076
NM_020964.3(EPG5):c.2694A>G (p.Gly898=) rs2511885765
NM_020964.3(EPG5):c.2697G>A (p.Leu899=) rs1599585460
NM_020964.3(EPG5):c.2718+14C>T rs1760916073
NM_020964.3(EPG5):c.2718+17T>C rs2511885358
NM_020964.3(EPG5):c.2718+20C>T rs2511885328
NM_020964.3(EPG5):c.2718+7G>A rs761789268
NM_020964.3(EPG5):c.2719-11_2719-6del rs2511869403
NM_020964.3(EPG5):c.2719-20A>G rs780579120
NM_020964.3(EPG5):c.2724C>T (p.Thr908=) rs1242696420
NM_020964.3(EPG5):c.2796A>G (p.Ala932=) rs2511868623
NM_020964.3(EPG5):c.2808T>C (p.Tyr936=) rs771774729
NM_020964.3(EPG5):c.2817T>A (p.Ile939=)
NM_020964.3(EPG5):c.2820C>G (p.Leu940=) rs748846851
NM_020964.3(EPG5):c.2835G>A (p.Lys945=)
NM_020964.3(EPG5):c.2838+11C>G rs2511868043
NM_020964.3(EPG5):c.2838+19A>G rs374315601
NM_020964.3(EPG5):c.2838+19A>T rs374315601
NM_020964.3(EPG5):c.2838+7C>T rs2511868077
NM_020964.3(EPG5):c.2839-16T>C rs2511863490
NM_020964.3(EPG5):c.2839-20A>G rs2511863501
NM_020964.3(EPG5):c.2844A>G (p.Ser948=) rs916382324
NM_020964.3(EPG5):c.2844A>T (p.Ser948=) rs916382324
NM_020964.3(EPG5):c.285C>T (p.Ser95=) rs2512130846
NM_020964.3(EPG5):c.2865A>C (p.Arg955=) rs199541208
NM_020964.3(EPG5):c.2880C>G (p.Pro960=) rs577918967
NM_020964.3(EPG5):c.2880C>T (p.Pro960=) rs577918967
NM_020964.3(EPG5):c.2904C>A (p.Ala968=) rs1454534885
NM_020964.3(EPG5):c.2916C>T (p.Ile972=) rs2511862875
NM_020964.3(EPG5):c.291G>A (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.291G>C (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.291G>T (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.3003A>G (p.Thr1001=) rs2511862034
NM_020964.3(EPG5):c.3015G>A (p.Thr1005=)
NM_020964.3(EPG5):c.303G>A (p.Glu101=) rs758143090
NM_020964.3(EPG5):c.3045G>C (p.Ala1015=) rs772585558
NM_020964.3(EPG5):c.3054C>T (p.Pro1018=) rs2511861527
NM_020964.3(EPG5):c.3067C>T (p.Leu1023=) rs749386144
NM_020964.3(EPG5):c.3084A>G (p.Thr1028=) rs2511861224
NM_020964.3(EPG5):c.3087T>C (p.Ala1029=) rs2511861206
NM_020964.3(EPG5):c.3099-14C>T rs2511835867
NM_020964.3(EPG5):c.3105G>A (p.Glu1035=)
NM_020964.3(EPG5):c.3114T>C (p.Cys1038=) rs1213183628
NM_020964.3(EPG5):c.3117A>G (p.Ala1039=) rs2511835584
NM_020964.3(EPG5):c.3132A>G (p.Leu1044=) rs779942616
NM_020964.3(EPG5):c.3150G>A (p.Gln1050=) rs2050066047
NM_020964.3(EPG5):c.3171G>A (p.Val1057=) rs1401806394
NM_020964.3(EPG5):c.3171G>T (p.Val1057=) rs1401806394
NM_020964.3(EPG5):c.3201A>G (p.Leu1067=) rs1568153152
NM_020964.3(EPG5):c.3216G>A (p.Gln1072=) rs763038687
NM_020964.3(EPG5):c.3234T>C (p.Asn1078=) rs2511834716
NM_020964.3(EPG5):c.3239+12C>G rs2511834585
NM_020964.3(EPG5):c.3239+14A>C
NM_020964.3(EPG5):c.3239+14A>T
NM_020964.3(EPG5):c.3239+15T>C rs2511834542
NM_020964.3(EPG5):c.3239+18A>G rs773125088
NM_020964.3(EPG5):c.3239+20G>A
NM_020964.3(EPG5):c.3240-19C>A
NM_020964.3(EPG5):c.3240-9G>A rs2511826798
NM_020964.3(EPG5):c.3261G>A (p.Leu1087=) rs1599566104
NM_020964.3(EPG5):c.3270C>T (p.His1090=)
NM_020964.3(EPG5):c.3276C>T (p.Asp1092=) rs2050037917
NM_020964.3(EPG5):c.3303A>G (p.Gln1101=) rs201545867
NM_020964.3(EPG5):c.3315C>T (p.His1105=) rs1299046325
NM_020964.3(EPG5):c.3330C>T (p.His1110=) rs373497800
NM_020964.3(EPG5):c.3336A>G (p.Thr1112=) rs2511825898
NM_020964.3(EPG5):c.333C>T (p.Pro111=) rs2512130184
NM_020964.3(EPG5):c.3348T>C (p.His1116=) rs1461997629
NM_020964.3(EPG5):c.3372C>T (p.Asn1124=) rs753035594
NM_020964.3(EPG5):c.3375C>T (p.Ser1125=) rs2511825400
NM_020964.3(EPG5):c.3384+15dup rs2511825162
NM_020964.3(EPG5):c.3384+19C>T rs2511825053
NM_020964.3(EPG5):c.3384+7G>A rs1265430677
NM_020964.3(EPG5):c.3385-10T>G rs946610919
NM_020964.3(EPG5):c.3385-15G>A
NM_020964.3(EPG5):c.3385-6C>T rs2511822601
NM_020964.3(EPG5):c.339G>C (p.Val113=) rs748481509
NM_020964.3(EPG5):c.339G>T (p.Val113=) rs748481509
NM_020964.3(EPG5):c.3411C>A (p.Pro1137=) rs2511822273
NM_020964.3(EPG5):c.3426C>G (p.Pro1142=) rs777286012
NM_020964.3(EPG5):c.3432T>C (p.Ala1144=) rs1399336157
NM_020964.3(EPG5):c.3459C>G (p.Leu1153=)
NM_020964.3(EPG5):c.3474C>G (p.Leu1158=) rs2511821574
NM_020964.3(EPG5):c.3480C>T (p.Tyr1160=)
NM_020964.3(EPG5):c.348T>C (p.Ser116=) rs2512129900
NM_020964.3(EPG5):c.351A>G (p.Ala117=) rs2512129844
NM_020964.3(EPG5):c.3543G>A (p.Gln1181=) rs2511820908
NM_020964.3(EPG5):c.3549C>T (p.Asp1183=)
NM_020964.3(EPG5):c.3582+13T>C rs2511820425
NM_020964.3(EPG5):c.3582+15A>G rs1317308641
NM_020964.3(EPG5):c.3582+18G>T rs1240884427
NM_020964.3(EPG5):c.3582+5_3582+8dup rs928783336
NM_020964.3(EPG5):c.3583-11T>C rs2511816878
NM_020964.3(EPG5):c.3583-15C>T rs2511816999
NM_020964.3(EPG5):c.3583-17C>T rs2511817048
NM_020964.3(EPG5):c.3583-20C>T
NM_020964.3(EPG5):c.3583-7G>T rs1372657836
NM_020964.3(EPG5):c.3594T>C (p.Gly1198=) rs2511816592
NM_020964.3(EPG5):c.3613C>T (p.Leu1205=) rs2511816343
NM_020964.3(EPG5):c.3618C>G (p.Leu1206=) rs2050011270
NM_020964.3(EPG5):c.3681C>T (p.Ala1227=) rs2511815706
NM_020964.3(EPG5):c.3684G>A (p.Thr1228=) rs1278860724
NM_020964.3(EPG5):c.3693+13C>G rs2511815438
NM_020964.3(EPG5):c.3693+17G>A rs762993371
NM_020964.3(EPG5):c.3693+18_3693+19del rs758272766
NM_020964.3(EPG5):c.3693+19G>A rs2050008242
NM_020964.3(EPG5):c.3693+19G>C rs2050008242
NM_020964.3(EPG5):c.3694-12G>C
NM_020964.3(EPG5):c.3694-15C>T rs746737538
NM_020964.3(EPG5):c.3694-18T>C rs957672685
NM_020964.3(EPG5):c.3694-20T>G rs2511805312
NM_020964.3(EPG5):c.3694-7A>G
NM_020964.3(EPG5):c.3694-9T>G rs2511805182
NM_020964.3(EPG5):c.3696C>T (p.Val1232=) rs2145694406
NM_020964.3(EPG5):c.3768A>G (p.Glu1256=) rs2511804606
NM_020964.3(EPG5):c.3816+15del rs2511803998
NM_020964.3(EPG5):c.3816+16C>A rs1301437178
NM_020964.3(EPG5):c.3817-11C>T
NM_020964.3(EPG5):c.3822C>G (p.Ala1274=) rs2145683945
NM_020964.3(EPG5):c.3828C>T (p.Thr1276=) rs747912106
NM_020964.3(EPG5):c.3846C>A (p.Ile1282=) rs200540278
NM_020964.3(EPG5):c.3846C>T (p.Ile1282=) rs200540278
NM_020964.3(EPG5):c.3849G>A (p.Val1283=) rs2511794856
NM_020964.3(EPG5):c.3870G>A (p.Leu1290=)
NM_020964.3(EPG5):c.3888C>T (p.His1296=) rs2511794398
NM_020964.3(EPG5):c.3894T>C (p.Ala1298=)
NM_020964.3(EPG5):c.3912T>C (p.Asp1304=)
NM_020964.3(EPG5):c.3918C>G (p.Pro1306=) rs1033299766
NM_020964.3(EPG5):c.3922C>T (p.Leu1308=) rs2511793919
NM_020964.3(EPG5):c.3930C>T (p.Leu1310=) rs2145683028
NM_020964.3(EPG5):c.3945C>T (p.Phe1315=) rs2511793670
NM_020964.3(EPG5):c.3948C>T (p.Phe1316=) rs2511793608
NM_020964.3(EPG5):c.3969G>T (p.Pro1323=)
NM_020964.3(EPG5):c.3983+12A>C rs2511793039
NM_020964.3(EPG5):c.3983+16T>C rs1343736341
NM_020964.3(EPG5):c.3983+18G>T rs369724401
NM_020964.3(EPG5):c.3983+8_3983+10dup rs2511793089
NM_020964.3(EPG5):c.3983+9C>T rs1396270570
NM_020964.3(EPG5):c.3984-12G>C rs2145667569
NM_020964.3(EPG5):c.3984-19T>C rs1056919937
NM_020964.3(EPG5):c.3984-6T>C rs2511778489
NM_020964.3(EPG5):c.3984-8T>A rs1312462490
NM_020964.3(EPG5):c.4005T>C (p.Ile1335=) rs1457706430
NM_020964.3(EPG5):c.402C>G (p.Thr134=) rs1229321630
NM_020964.3(EPG5):c.4045T>C (p.Leu1349=) rs2049871854
NM_020964.3(EPG5):c.4074G>A (p.Glu1358=) rs765098575
NM_020964.3(EPG5):c.4083C>T (p.Asp1361=)
NM_020964.3(EPG5):c.408G>A (p.Lys136=) rs2050993562
NM_020964.3(EPG5):c.4095T>C (p.Ala1365=) rs2511776760
NM_020964.3(EPG5):c.4104G>A (p.Lys1368=)
NM_020964.3(EPG5):c.4125G>A (p.Glu1375=) rs2511776333
NM_020964.3(EPG5):c.4152C>T (p.His1384=) rs200079588
NM_020964.3(EPG5):c.4161C>G (p.Thr1387=) rs752648281
NM_020964.3(EPG5):c.4161C>T (p.Thr1387=) rs752648281
NM_020964.3(EPG5):c.417A>G (p.Thr139=)
NM_020964.3(EPG5):c.4205+12T>C rs2511775205
NM_020964.3(EPG5):c.4205+15T>G rs2511775169
NM_020964.3(EPG5):c.4205+19C>T rs1268742474
NM_020964.3(EPG5):c.4218A>G (p.Val1406=) rs1599546418
NM_020964.3(EPG5):c.4239T>C (p.Asp1413=)
NM_020964.3(EPG5):c.4251A>G (p.Gln1417=) rs2511756785
NM_020964.3(EPG5):c.4263C>G (p.Thr1421=) rs201244994
NM_020964.3(EPG5):c.4269C>T (p.Ile1423=) rs765537954
NM_020964.3(EPG5):c.4281A>G (p.Pro1427=)
NM_020964.3(EPG5):c.4290T>C (p.Tyr1430=) rs2511756213
NM_020964.3(EPG5):c.4300A>C (p.Arg1434=) rs2511756062
NM_020964.3(EPG5):c.4302G>A (p.Arg1434=) rs749205486
NM_020964.3(EPG5):c.4329+13C>A rs1286993357
NM_020964.3(EPG5):c.4329+15C>T rs2049795613
NM_020964.3(EPG5):c.4329+17C>T rs2145642100
NM_020964.3(EPG5):c.4329+18_4329+22del rs2511755351
NM_020964.3(EPG5):c.4329+19T>G rs753155754
NM_020964.3(EPG5):c.4330-12G>A rs770404883
NM_020964.3(EPG5):c.4330-12G>C rs770404883
NM_020964.3(EPG5):c.4330-15G>A rs2511729327
NM_020964.3(EPG5):c.4330-17C>G rs2511729376
NM_020964.3(EPG5):c.4330-17del rs2511729391
NM_020964.3(EPG5):c.4330-7G>C rs1282559048
NM_020964.3(EPG5):c.4330-8T>C rs757005543
NM_020964.3(EPG5):c.4330-9C>G rs2511729281
NM_020964.3(EPG5):c.4344G>A (p.Glu1448=)
NM_020964.3(EPG5):c.4347T>C (p.Tyr1449=) rs2511728979
NM_020964.3(EPG5):c.4380G>A (p.Gln1460=) rs2511728705
NM_020964.3(EPG5):c.4386T>G (p.Thr1462=) rs1284302919
NM_020964.3(EPG5):c.438G>C (p.Ser146=) rs186410807
NM_020964.3(EPG5):c.4401A>C (p.Thr1467=) rs2511728537
NM_020964.3(EPG5):c.4452G>A (p.Leu1484=) rs2511728071
NM_020964.3(EPG5):c.4474+10G>A
NM_020964.3(EPG5):c.4474+12dup rs1459072623
NM_020964.3(EPG5):c.4474+17C>T rs780641027
NM_020964.3(EPG5):c.4485G>A (p.Arg1495=) rs768286664
NM_020964.3(EPG5):c.4497C>T (p.Asn1499=) rs2511711794
NM_020964.3(EPG5):c.450A>T (p.Gly150=) rs777737049
NM_020964.3(EPG5):c.4542G>A (p.Pro1514=) rs761449592
NM_020964.3(EPG5):c.4542G>T (p.Pro1514=) rs761449592
NM_020964.3(EPG5):c.4548G>A (p.Lys1516=) rs2511711253
NM_020964.3(EPG5):c.4554T>C (p.Pro1518=) rs2511711204
NM_020964.3(EPG5):c.4557G>A (p.Val1519=)
NM_020964.3(EPG5):c.4557G>C (p.Val1519=) rs746408063
NM_020964.3(EPG5):c.4560A>G (p.Pro1520=) rs774190517
NM_020964.3(EPG5):c.4569C>T (p.Ser1523=) rs2145588826
NM_020964.3(EPG5):c.4572T>C (p.Ser1524=)
NM_020964.3(EPG5):c.4608G>A (p.Leu1536=) rs2145588277
NM_020964.3(EPG5):c.4620C>T (p.Asp1540=) rs2049602058
NM_020964.3(EPG5):c.4646+11G>A rs2049600821
NM_020964.3(EPG5):c.4646+13A>G rs747489873
NM_020964.3(EPG5):c.4646+15C>T rs2511710165
NM_020964.3(EPG5):c.4646+16dup rs2511710132
NM_020964.3(EPG5):c.4646+7C>A rs769360036
NM_020964.3(EPG5):c.4647-11A>G rs1410420309
NM_020964.3(EPG5):c.4647-12G>T rs2511701047
NM_020964.3(EPG5):c.4647-6_4647-4del rs2511700931
NM_020964.3(EPG5):c.4647-8T>G rs2049558692
NM_020964.3(EPG5):c.4659T>A (p.Leu1553=) rs1224300680
NM_020964.3(EPG5):c.465A>G (p.Ala155=)
NM_020964.3(EPG5):c.4671G>A (p.Gln1557=) rs2511700631
NM_020964.3(EPG5):c.4674G>A (p.Gln1558=) rs2511700598
NM_020964.3(EPG5):c.4686T>C (p.Asp1562=) rs2145576325
NM_020964.3(EPG5):c.4704A>C (p.Thr1568=) rs1325907243
NM_020964.3(EPG5):c.4713G>A (p.Lys1571=) rs2049556298
NM_020964.3(EPG5):c.4740C>T (p.Thr1580=) rs2511699960
NM_020964.3(EPG5):c.4743A>G (p.Thr1581=) rs1225206726
NM_020964.3(EPG5):c.4750T>C (p.Leu1584=) rs2511699845
NM_020964.3(EPG5):c.4758C>T (p.Cys1586=) rs1363610947
NM_020964.3(EPG5):c.4764C>T (p.Gly1588=) rs2511699736
NM_020964.3(EPG5):c.4767C>T (p.Ser1589=) rs2511699702
NM_020964.3(EPG5):c.4794A>T (p.Ala1598=) rs746011901
NM_020964.3(EPG5):c.4803G>C (p.Thr1601=)
NM_020964.3(EPG5):c.4809+13A>G rs2049553149
NM_020964.3(EPG5):c.480T>C (p.Phe160=) rs2512128237
NM_020964.3(EPG5):c.4810-16C>G rs2049305579
NM_020964.3(EPG5):c.4818C>T (p.Gly1606=)
NM_020964.3(EPG5):c.4869A>G (p.Glu1623=) rs2049303793
NM_020964.3(EPG5):c.486T>C (p.Tyr162=) rs2512128138
NM_020964.3(EPG5):c.4878G>A (p.Gln1626=) rs34257105
NM_020964.3(EPG5):c.4917T>C (p.Ile1639=) rs764725767
NM_020964.3(EPG5):c.4952+16A>G rs2511639891
NM_020964.3(EPG5):c.4952+19A>G rs1281883986
NM_020964.3(EPG5):c.4952+8T>C rs759867662
NM_020964.3(EPG5):c.4953-13C>T rs780753100
NM_020964.3(EPG5):c.4953-15del rs2511626837
NM_020964.3(EPG5):c.4953-4A>G
NM_020964.3(EPG5):c.495A>C (p.Pro165=) rs2143788407
NM_020964.3(EPG5):c.4962G>A (p.Val1654=) rs2511626583
NM_020964.3(EPG5):c.4983T>C (p.Pro1661=) rs2511626338
NM_020964.3(EPG5):c.4986A>C (p.Thr1662=) rs2511626288
NM_020964.3(EPG5):c.4989T>C (p.Pro1663=) rs759914920
NM_020964.3(EPG5):c.5016T>A (p.Leu1672=) rs2145474336
NM_020964.3(EPG5):c.5040C>G (p.Val1680=) rs2511625698
NM_020964.3(EPG5):c.5043C>T (p.Ser1681=)
NM_020964.3(EPG5):c.5052G>C (p.Thr1684=) rs199648768
NM_020964.3(EPG5):c.5064C>T (p.Pro1688=) rs2511625465
NM_020964.3(EPG5):c.5070A>C (p.Thr1690=) rs35073566
NM_020964.3(EPG5):c.5109+13del rs2511624951
NM_020964.3(EPG5):c.5109+15A>G rs765213554
NM_020964.3(EPG5):c.5109+17C>A rs2049249000
NM_020964.3(EPG5):c.510A>C (p.Ile170=) rs1383309349
NM_020964.3(EPG5):c.5110-17C>G rs1205647595
NM_020964.3(EPG5):c.5110-19T>C rs2511609608
NM_020964.3(EPG5):c.5110-4C>G rs1599490108
NM_020964.3(EPG5):c.5110-5C>T rs1244146142
NM_020964.3(EPG5):c.5112A>G (p.Val1704=) rs2511609391
NM_020964.3(EPG5):c.5121T>C (p.Ser1707=) rs2511609355
NM_020964.3(EPG5):c.5136G>A (p.Glu1712=)
NM_020964.3(EPG5):c.5188C>T (p.Leu1730=)
NM_020964.3(EPG5):c.5190G>A (p.Leu1730=)
NM_020964.3(EPG5):c.5205T>A (p.Thr1735=) rs2145444187
NM_020964.3(EPG5):c.5208C>T (p.Pro1736=) rs1490567315
NM_020964.3(EPG5):c.5232A>T (p.Ile1744=)
NM_020964.3(EPG5):c.5250G>T (p.Val1750=) rs2511608414
NM_020964.3(EPG5):c.5268G>A (p.Glu1756=) rs2511608291
NM_020964.3(EPG5):c.5271C>T (p.Asp1757=) rs2511608236
NM_020964.3(EPG5):c.5298A>C (p.Leu1766=)
NM_020964.3(EPG5):c.5301C>T (p.Thr1767=) rs1163327702
NM_020964.3(EPG5):c.5304+14C>T rs2511607838
NM_020964.3(EPG5):c.5304+15C>T rs2511607819
NM_020964.3(EPG5):c.5304+8G>A rs2511607892
NM_020964.3(EPG5):c.5305-18G>A rs2049119366
NM_020964.3(EPG5):c.5305-20T>C
NM_020964.3(EPG5):c.5305-20_5305-19del rs2511593803
NM_020964.3(EPG5):c.5313T>A (p.Leu1771=)
NM_020964.3(EPG5):c.5319A>G (p.Gln1773=)
NM_020964.3(EPG5):c.531T>C (p.Asn177=) rs2512127691
NM_020964.3(EPG5):c.5344C>T (p.Leu1782=) rs1460858428
NM_020964.3(EPG5):c.5365C>T (p.Leu1789=) rs2511592899
NM_020964.3(EPG5):c.5370G>A (p.Glu1790=) rs2049117452
NM_020964.3(EPG5):c.5385A>C (p.Ala1795=) rs376809635
NM_020964.3(EPG5):c.5403T>A (p.Leu1801=) rs751446448
NM_020964.3(EPG5):c.5403T>C (p.Leu1801=) rs751446448
NM_020964.3(EPG5):c.5409A>G (p.Pro1803=)
NM_020964.3(EPG5):c.5418T>C (p.Asp1806=) rs2511592197
NM_020964.3(EPG5):c.5433T>C (p.Phe1811=) rs776113246
NM_020964.3(EPG5):c.5436T>C (p.Asn1812=) rs2049115623
NM_020964.3(EPG5):c.5451C>T (p.His1817=) rs2511591819
NM_020964.3(EPG5):c.546A>G (p.Lys182=) rs2050989546
NM_020964.3(EPG5):c.5490C>T (p.Tyr1830=) rs2511591415
NM_020964.3(EPG5):c.5518+14T>C rs2511590945
NM_020964.3(EPG5):c.5518+7G>A rs1264216973
NM_020964.3(EPG5):c.5518+7_5518+8del rs2511591007
NM_020964.3(EPG5):c.5518+8T>G rs757298239
NM_020964.3(EPG5):c.5518+9C>T rs747598069
NM_020964.3(EPG5):c.5519-12C>G rs1409266866
NM_020964.3(EPG5):c.5519-19T>C rs2511578453
NM_020964.3(EPG5):c.5519-20_5519-19del rs2511578470
NM_020964.3(EPG5):c.552C>T (p.Gly184=) rs1599649645
NM_020964.3(EPG5):c.5532G>A (p.Gln1844=) rs2145406202
NM_020964.3(EPG5):c.5536C>T (p.Leu1846=) rs2049067717
NM_020964.3(EPG5):c.5538G>C (p.Leu1846=) rs979354405
NM_020964.3(EPG5):c.5556G>A (p.Lys1852=) rs1323809959
NM_020964.3(EPG5):c.5571C>G (p.Ala1857=) rs748031106
NM_020964.3(EPG5):c.5571C>T (p.Ala1857=) rs748031106
NM_020964.3(EPG5):c.5574G>A (p.Leu1858=) rs1375473975
NM_020964.3(EPG5):c.5601G>A (p.Gln1867=) rs2145404866
NM_020964.3(EPG5):c.5616C>A (p.Thr1872=) rs141282194
NM_020964.3(EPG5):c.5625C>A (p.Ala1875=) rs1187266900
NM_020964.3(EPG5):c.5625C>T (p.Ala1875=) rs1187266900
NM_020964.3(EPG5):c.5634C>T (p.Pro1878=) rs768384188
NM_020964.3(EPG5):c.5646T>C (p.Asp1882=) rs2511576125
NM_020964.3(EPG5):c.5649T>A (p.Ala1883=) rs1226152505
NM_020964.3(EPG5):c.5658A>G (p.Ser1886=) rs1447014980
NM_020964.3(EPG5):c.5661C>T (p.Asp1887=)
NM_020964.3(EPG5):c.5667+7A>G rs2511575776
NM_020964.3(EPG5):c.5667+8G>A rs2511575758
NM_020964.3(EPG5):c.5668-12T>G rs2511568736
NM_020964.3(EPG5):c.5668-15A>C rs755258249
NM_020964.3(EPG5):c.5694A>C (p.Ser1898=) rs2511568287
NM_020964.3(EPG5):c.5703T>C (p.Phe1901=)
NM_020964.3(EPG5):c.5718A>G (p.Leu1906=) rs2511567977
NM_020964.3(EPG5):c.573G>A (p.Val191=) rs2512127198
NM_020964.3(EPG5):c.5748A>G (p.Leu1916=) rs1211859486
NM_020964.3(EPG5):c.5778T>C (p.Asp1926=) rs2511567315
NM_020964.3(EPG5):c.5814G>A (p.Leu1938=) rs2511566951
NM_020964.3(EPG5):c.5823A>G (p.Leu1941=) rs2145393184
NM_020964.3(EPG5):c.5832C>G (p.Thr1944=)
NM_020964.3(EPG5):c.5832C>T (p.Thr1944=) rs369519447
NM_020964.3(EPG5):c.5841C>T (p.Ala1947=) rs2511566682
NM_020964.3(EPG5):c.5847C>T (p.Asp1949=) rs770537822
NM_020964.3(EPG5):c.5853T>G (p.Thr1951=) rs2511566541
NM_020964.3(EPG5):c.5869+10T>A rs780437612
NM_020964.3(EPG5):c.5869+10T>C rs780437612
NM_020964.3(EPG5):c.5869+18C>A rs202231195
NM_020964.3(EPG5):c.5869+19G>A rs751631563
NM_020964.3(EPG5):c.5869+19G>T rs751631563
NM_020964.3(EPG5):c.5869+9C>T rs749666340
NM_020964.3(EPG5):c.5870-15T>A rs2511561748
NM_020964.3(EPG5):c.5870-18G>A rs2049019136
NM_020964.3(EPG5):c.5870-7T>G
NM_020964.3(EPG5):c.5883A>G (p.Leu1961=) rs753759274
NM_020964.3(EPG5):c.5889A>C (p.Ser1963=) rs1162516634
NM_020964.3(EPG5):c.5901G>A (p.Gln1967=) rs1412266984
NM_020964.3(EPG5):c.5907T>C (p.Phe1969=) rs2511561271
NM_020964.3(EPG5):c.5913A>G (p.Pro1971=) rs2511561220
NM_020964.3(EPG5):c.5913A>T (p.Pro1971=) rs2511561220
NM_020964.3(EPG5):c.5937C>T (p.Asn1979=) rs150214973
NM_020964.3(EPG5):c.5940A>G (p.Glu1980=) rs2511560973
NM_020964.3(EPG5):c.5942+11T>C rs2511560762
NM_020964.3(EPG5):c.5942+15A>G rs2511560736
NM_020964.3(EPG5):c.5942+19A>G rs2511560679
NM_020964.3(EPG5):c.5942+7A>G rs1568114373
NM_020964.3(EPG5):c.5943-10T>C rs751169506
NM_020964.3(EPG5):c.5943-14T>C rs1289958063
NM_020964.3(EPG5):c.5943-17G>T
NM_020964.3(EPG5):c.5943-4A>C rs2511548214
NM_020964.3(EPG5):c.5970A>G (p.Leu1990=) rs1368807666
NM_020964.3(EPG5):c.5976T>C (p.Ser1992=) rs1599468820
NM_020964.3(EPG5):c.5985G>A (p.Val1995=) rs2145364689
NM_020964.3(EPG5):c.5988G>A (p.Val1996=) rs747208324
NM_020964.3(EPG5):c.6049+10T>C rs2511547052
NM_020964.3(EPG5):c.6049+19G>A rs2511546893
NM_020964.3(EPG5):c.6050-4C>G rs2145311347
NM_020964.3(EPG5):c.6050-6T>C rs2511515278
NM_020964.3(EPG5):c.6054G>A (p.Lys2018=) rs1409919994
NM_020964.3(EPG5):c.606A>C (p.Pro202=) rs779003764
NM_020964.3(EPG5):c.6090C>T (p.His2030=) rs762111149
NM_020964.3(EPG5):c.6093G>A (p.Leu2031=) rs2145310571
NM_020964.3(EPG5):c.6102T>C (p.Tyr2034=) rs2048852831
NM_020964.3(EPG5):c.6111A>G (p.Ala2037=) rs1055996236
NM_020964.3(EPG5):c.6153C>T (p.Phe2051=) rs1325744104
NM_020964.3(EPG5):c.6156T>C (p.His2052=) rs1460224042
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6177A>G (p.Pro2059=) rs2511513818
NM_020964.3(EPG5):c.6187C>T (p.Leu2063=) rs767925401
NM_020964.3(EPG5):c.6201G>A (p.Gln2067=) rs2145309151
NM_020964.3(EPG5):c.6225+16C>T rs2511512726
NM_020964.3(EPG5):c.6225+19G>A rs1178430780
NM_020964.3(EPG5):c.6225+19del
NM_020964.3(EPG5):c.6225+9_6225+11del rs2511512848
NM_020964.3(EPG5):c.6226-12A>G rs2511493248
NM_020964.3(EPG5):c.6226-14T>C rs2511493277
NM_020964.3(EPG5):c.6231A>G (p.Glu2077=) rs2145278065
NM_020964.3(EPG5):c.6237A>G (p.Gly2079=) rs768380173
NM_020964.3(EPG5):c.6246G>A (p.Lys2082=) rs2511492907
NM_020964.3(EPG5):c.6249C>T (p.Ser2083=) rs775069400
NM_020964.3(EPG5):c.624G>A (p.Gln208=) rs538841155
NM_020964.3(EPG5):c.6252T>C (p.Cys2084=) rs2511492857
NM_020964.3(EPG5):c.6262T>C (p.Leu2088=) rs2048776724
NM_020964.3(EPG5):c.63+14C>T rs757703100
NM_020964.3(EPG5):c.63+15C>G rs1599672854
NM_020964.3(EPG5):c.63+16del rs1568197898
NM_020964.3(EPG5):c.63+17C>G rs764436308
NM_020964.3(EPG5):c.63+8T>A rs1338572329
NM_020964.3(EPG5):c.63+9C>T rs781732575
NM_020964.3(EPG5):c.6312C>A (p.Ala2104=) rs761751258
NM_020964.3(EPG5):c.6321C>T (p.Ser2107=) rs1005071205
NM_020964.3(EPG5):c.6330C>T (p.His2110=) rs1270117192
NM_020964.3(EPG5):c.633A>G (p.Arg211=) rs2512126424
NM_020964.3(EPG5):c.6342C>T (p.Arg2114=)
NM_020964.3(EPG5):c.6345C>T (p.Ser2115=) rs2511491884
NM_020964.3(EPG5):c.6372G>A (p.Met2124Ile) rs537052000
NM_020964.3(EPG5):c.6372G>T (p.Met2124Ile) rs537052000
NM_020964.3(EPG5):c.6378A>G (p.Leu2126=) rs779296458
NM_020964.3(EPG5):c.6379T>C (p.Leu2127=) rs2511491449
NM_020964.3(EPG5):c.64-13A>G rs2512133458
NM_020964.3(EPG5):c.64-18T>A rs2512133557
NM_020964.3(EPG5):c.64-8G>A rs2512133428
NM_020964.3(EPG5):c.6411+11G>A rs776359537
NM_020964.3(EPG5):c.6411+12A>C
NM_020964.3(EPG5):c.6411+15C>T rs2511490993
NM_020964.3(EPG5):c.6411+17T>C rs1447882350
NM_020964.3(EPG5):c.6411+19T>C rs2511490957
NM_020964.3(EPG5):c.6412-17A>G
NM_020964.3(EPG5):c.6412-20A>C rs2511487628
NM_020964.3(EPG5):c.6453T>G (p.Leu2151=) rs2511487221
NM_020964.3(EPG5):c.6456A>C (p.Ser2152=) rs760372673
NM_020964.3(EPG5):c.6456A>G (p.Ser2152=) rs760372673
NM_020964.3(EPG5):c.6483C>T (p.Tyr2161=) rs1413653727
NM_020964.3(EPG5):c.6489T>C (p.Ser2163=) rs1180674025
NM_020964.3(EPG5):c.6519G>C (p.Pro2173=) rs762400421
NM_020964.3(EPG5):c.6531C>T (p.Ile2177=) rs2511486615
NM_020964.3(EPG5):c.6534G>C (p.Leu2178=)
NM_020964.3(EPG5):c.6549T>C (p.Tyr2183=) rs767070718
NM_020964.3(EPG5):c.655T>C (p.Leu219=) rs2512126151
NM_020964.3(EPG5):c.6579G>A (p.Val2193=) rs2511486331
NM_020964.3(EPG5):c.6585G>A (p.Ala2195=) rs763405574
NM_020964.3(EPG5):c.6591T>C (p.Leu2197=)
NM_020964.3(EPG5):c.6594T>C (p.Ser2198=) rs2511486228
NM_020964.3(EPG5):c.6621+12G>A rs1177854768
NM_020964.3(EPG5):c.6621+12G>C
NM_020964.3(EPG5):c.6621+13G>C rs781195592
NM_020964.3(EPG5):c.6621+14T>A rs534033232
NM_020964.3(EPG5):c.6621+14del rs2547944088
NM_020964.3(EPG5):c.6621+19T>C rs2511485947
NM_020964.3(EPG5):c.6621+9A>G rs2511486019
NM_020964.3(EPG5):c.6622-12T>C rs1237223405
NM_020964.3(EPG5):c.6622-14_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-15_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-16T>A rs2511479737
NM_020964.3(EPG5):c.6622-19T>A rs2511479782
NM_020964.3(EPG5):c.6622-19T>G rs2511479782
NM_020964.3(EPG5):c.6622-19_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-20_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-22_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-23_6622-12dup rs11333207
NM_020964.3(EPG5):c.6622-23_6622-13dup rs11333207
NM_020964.3(EPG5):c.6622-4T>G rs1599442682
NM_020964.3(EPG5):c.6622-5G>A rs1253564702
NM_020964.3(EPG5):c.6622-6G>T rs1309916888
NM_020964.3(EPG5):c.6642A>G (p.Gln2214=) rs745713018
NM_020964.3(EPG5):c.6645T>G (p.Ala2215=)
NM_020964.3(EPG5):c.6678C>T (p.Thr2226=) rs752192220
NM_020964.3(EPG5):c.6687A>G (p.Gln2229=) rs1212415121
NM_020964.3(EPG5):c.6717A>G (p.Glu2239=) rs766604013
NM_020964.3(EPG5):c.6720G>A (p.Gln2240=)
NM_020964.3(EPG5):c.6723A>G (p.Glu2241=) rs2145256783
NM_020964.3(EPG5):c.6730A>G (p.Lys2244Glu) rs560080785
NM_020964.3(EPG5):c.6735C>G (p.Leu2245=) rs773373851
NM_020964.3(EPG5):c.6744T>C (p.Asp2248=) rs774538530
NM_020964.3(EPG5):c.6762G>A (p.Pro2254=) rs776495551
NM_020964.3(EPG5):c.6766+10C>T rs2511477954
NM_020964.3(EPG5):c.6766+19G>C
NM_020964.3(EPG5):c.6766+9C>G rs374517571
NM_020964.3(EPG5):c.6767-13A>G rs747750754
NM_020964.3(EPG5):c.6767-16T>A rs2511459894
NM_020964.3(EPG5):c.6767-17G>C rs2511459907
NM_020964.3(EPG5):c.6767-20T>A rs2511459938
NM_020964.3(EPG5):c.6768C>T (p.Asp2256=) rs780474089
NM_020964.3(EPG5):c.6774C>T (p.Asp2258=) rs2511459779
NM_020964.3(EPG5):c.6807C>G (p.Leu2269=) rs2511459569
NM_020964.3(EPG5):c.6810T>C (p.Phe2270=) rs2145210565
NM_020964.3(EPG5):c.6855A>G (p.Ala2285=)
NM_020964.3(EPG5):c.6891C>T (p.Gly2297=)
NM_020964.3(EPG5):c.6894A>G (p.Gln2298=) rs761643130
NM_020964.3(EPG5):c.6916C>T (p.Leu2306=) rs2069479163
NM_020964.3(EPG5):c.6921C>T (p.Pro2307=) rs1314072230
NM_020964.3(EPG5):c.6945C>T (p.Ser2315=) rs1476251515
NM_020964.3(EPG5):c.6948G>A (p.Leu2316=) rs1258289387
NM_020964.3(EPG5):c.6960C>T (p.Arg2320=)
NM_020964.3(EPG5):c.6975T>C (p.Thr2325=) rs2511458411
NM_020964.3(EPG5):c.6984C>A (p.Ala2328=) rs2048602014
NM_020964.3(EPG5):c.6990C>T (p.Ile2330=) rs2511458310
NM_020964.3(EPG5):c.6996C>G (p.Ala2332=) rs149296561
NM_020964.3(EPG5):c.6C>A (p.Ala2=) rs2051287134
NM_020964.3(EPG5):c.6C>G (p.Ala2=) rs2051287134
NM_020964.3(EPG5):c.7009+16C>T rs1168864206
NM_020964.3(EPG5):c.7010-3del rs2511452326
NM_020964.3(EPG5):c.7010-9T>C rs755160250
NM_020964.3(EPG5):c.7056T>C (p.Leu2352=) rs2145198664
NM_020964.3(EPG5):c.7065C>G (p.Pro2355=) rs551726903
NM_020964.3(EPG5):c.7086C>T (p.Phe2362=) rs765931166
NM_020964.3(EPG5):c.7089G>A (p.Leu2363=) rs2048568464
NM_020964.3(EPG5):c.7092G>A (p.Gln2364=)
NM_020964.3(EPG5):c.7101C>T (p.Leu2367=) rs2511451683
NM_020964.3(EPG5):c.7110C>A (p.Gly2370=) rs1419108589
NM_020964.3(EPG5):c.7113T>C (p.Ser2371=) rs2145197961
NM_020964.3(EPG5):c.7149A>G (p.Leu2383=) rs2511451207
NM_020964.3(EPG5):c.714C>T (p.Arg238=) rs2512125451
NM_020964.3(EPG5):c.7170G>A (p.Arg2390=) rs1344860554
NM_020964.3(EPG5):c.7185G>T (p.Val2395=) rs2511450920
NM_020964.3(EPG5):c.7191C>A (p.Leu2397=) rs766126331
NM_020964.3(EPG5):c.7226+12C>T rs2511450506
NM_020964.3(EPG5):c.7226+17G>C rs2511450462
NM_020964.3(EPG5):c.7226+9G>C rs769882885
NM_020964.3(EPG5):c.7227-11G>A rs766878828
NM_020964.3(EPG5):c.7227-18del rs2511447971
NM_020964.3(EPG5):c.7227-9C>T rs2511447840
NM_020964.3(EPG5):c.7245A>G (p.Ala2415=) rs1245397728
NM_020964.3(EPG5):c.7257G>A (p.Leu2419=) rs1555660179
NM_020964.3(EPG5):c.7281C>G (p.Leu2427=) rs747081899
NM_020964.3(EPG5):c.729C>T (p.Tyr243=) rs767311741
NM_020964.3(EPG5):c.7305T>C (p.Asn2435=)
NM_020964.3(EPG5):c.7320A>G (p.Thr2440=) rs2511446866
NM_020964.3(EPG5):c.7344C>G (p.Leu2448=) rs751044292
NM_020964.3(EPG5):c.7350T>G (p.Val2450=) rs764623551
NM_020964.3(EPG5):c.7380G>A (p.Glu2460=) rs2511446439
NM_020964.3(EPG5):c.7383A>G (p.Arg2461=) rs2511446390
NM_020964.3(EPG5):c.7398C>A (p.Ile2466=) rs2511446281
NM_020964.3(EPG5):c.7404G>A (p.Gly2468=) rs2511446211
NM_020964.3(EPG5):c.7413G>A (p.Gly2471=)
NM_020964.3(EPG5):c.7422G>A (p.Arg2474=) rs1036226828
NM_020964.3(EPG5):c.7434G>A (p.Leu2478=) rs1299705592
NM_020964.3(EPG5):c.7442+11G>T rs368361879
NM_020964.3(EPG5):c.7442+19A>G
NM_020964.3(EPG5):c.7443-11T>C rs2511433765
NM_020964.3(EPG5):c.7443-19C>T
NM_020964.3(EPG5):c.7443-8T>C rs2511433722
NM_020964.3(EPG5):c.7443-9A>T rs2145173560
NM_020964.3(EPG5):c.7530A>G (p.Glu2510=)
NM_020964.3(EPG5):c.7557+14A>G rs2048499017
NM_020964.3(EPG5):c.7557+16G>A rs771690475
NM_020964.3(EPG5):c.7557+19G>C
NM_020964.3(EPG5):c.7557+20G>C rs778449253
NM_020964.3(EPG5):c.7557+7A>G rs760463372
NM_020964.3(EPG5):c.7558-15T>C rs887421870
NM_020964.3(EPG5):c.7558-18A>G rs757460285
NM_020964.3(EPG5):c.7560T>A (p.Ala2520=) rs1247715185
NM_020964.3(EPG5):c.7561C>T (p.Leu2521=)
NM_020964.3(EPG5):c.7617A>G (p.Gln2539=) rs2511417917
NM_020964.3(EPG5):c.7626A>G (p.Gln2542=) rs1426275955
NM_020964.3(EPG5):c.762A>G (p.Pro254=) rs2512124834
NM_020964.3(EPG5):c.7674A>G (p.Lys2558=) rs1555658766
NM_020964.3(EPG5):c.7680C>T (p.Phe2560=) rs2511417553
NM_020964.3(EPG5):c.7686T>C (p.Ala2562=) rs2511417524
NM_020964.3(EPG5):c.7689T>G (p.Leu2563=) rs2048437173
NM_020964.3(EPG5):c.7704G>A (p.Leu2568=) rs553920789
NM_020964.3(EPG5):c.7704G>C (p.Leu2568=) rs553920789
NM_020964.3(EPG5):c.7716G>T (p.Val2572=) rs2048436666
NM_020964.3(EPG5):c.7725G>A (p.Leu2575=) rs2511417334
NM_020964.3(EPG5):c.787T>C (p.Leu263=) rs2512124558
NM_020964.3(EPG5):c.805C>T (p.Leu269=)
NM_020964.3(EPG5):c.870T>C (p.Phe290=) rs2050981551
NM_020964.3(EPG5):c.873T>C (p.Tyr291=) rs766491139
NM_020964.3(EPG5):c.909A>G (p.Gln303=) rs2050980655
NM_020964.3(EPG5):c.912G>A (p.Leu304=) rs2143780754
NM_020964.3(EPG5):c.913C>T (p.Leu305=) rs2143780716
NM_020964.3(EPG5):c.916C>T (p.Leu306=)
NM_020964.3(EPG5):c.969T>C (p.Ser323=)
NM_020964.3(EPG5):c.981G>A (p.Gln327=) rs2143779227

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