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: 1035
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys) rs148098259 0.00166
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 0.00103
NM_020964.3(EPG5):c.7621T>C (p.Leu2541=) rs371309452 0.00090
NM_020964.3(EPG5):c.2426C>T (p.Thr809Ile) rs181383334 0.00083
NM_020964.3(EPG5):c.438G>A (p.Ser146=) rs186410807 0.00081
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.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.2303A>G (p.Asn768Ser) rs61736031 0.00064
NM_020964.3(EPG5):c.3240-16C>T rs376836914 0.00060
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 0.00029
NM_020964.3(EPG5):c.5310T>C (p.Asp1770=) rs376326191 0.00027
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.2719-19T>A rs200251297 0.00017
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.7059G>A (p.Gln2353=) rs368846817 0.00017
NM_020964.3(EPG5):c.4650C>T (p.Thr1550=) rs748583309 0.00016
NM_020964.3(EPG5):c.4802C>T (p.Thr1601Met) rs200576622 0.00016
NM_020964.3(EPG5):c.6855A>T (p.Ala2285=) rs375424781 0.00016
NM_020964.3(EPG5):c.7311C>T (p.Ser2437=) rs377487870 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.6069T>C (p.Asp2023=) rs372121696 0.00014
NM_020964.3(EPG5):c.2100-7C>T rs191189597 0.00013
NM_020964.3(EPG5):c.3280G>A (p.Gly1094Ser) rs200966889 0.00012
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104 0.00012
NM_020964.3(EPG5):c.306C>T (p.Pro102=) rs368868174 0.00011
NM_020964.3(EPG5):c.858C>T (p.Asp286=) rs368125864 0.00011
NM_020964.3(EPG5):c.4621C>T (p.Leu1541=) rs1321980926 0.00010
NM_020964.3(EPG5):c.57A>G (p.Lys19=) rs756684551 0.00010
NM_020964.3(EPG5):c.2761T>C (p.Leu921=) rs376268597 0.00009
NM_020964.3(EPG5):c.393A>G (p.Lys131=) rs754739319 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.5869+12C>T rs375719080 0.00009
NM_020964.3(EPG5):c.6050-20A>G rs746867701 0.00009
NM_020964.3(EPG5):c.3567C>T (p.Leu1189=) rs757349087 0.00008
NM_020964.3(EPG5):c.1395C>T (p.Ser465=) rs374133150 0.00007
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194 0.00007
NM_020964.3(EPG5):c.1081C>T (p.Leu361=) rs777877311 0.00006
NM_020964.3(EPG5):c.2413-16C>T rs550407878 0.00006
NM_020964.3(EPG5):c.2529A>G (p.Gln843=) rs780942299 0.00006
NM_020964.3(EPG5):c.2958G>A (p.Pro986=) rs576591054 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.2373C>T (p.Asp791=) rs552419530 0.00005
NM_020964.3(EPG5):c.3093C>T (p.Gly1031=) rs757078802 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.7068G>A (p.Glu2356=) rs759227711 0.00005
NM_020964.3(EPG5):c.7458C>T (p.Ala2486=) rs374322299 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.2232C>T (p.Pro744=) rs373389232 0.00004
NM_020964.3(EPG5):c.2583T>C (p.Pro861=) rs781036678 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.6951G>A (p.Ala2317=) rs369725381 0.00004
NM_020964.3(EPG5):c.7155C>T (p.Ser2385=) rs376292945 0.00004
NM_020964.3(EPG5):c.7227-15C>T rs755680208 0.00004
NM_020964.3(EPG5):c.7230C>T (p.Ser2410=) rs556306651 0.00004
NM_020964.3(EPG5):c.7442+17C>G rs200371582 0.00004
NM_020964.3(EPG5):c.876G>A (p.Glu292=) rs372088946 0.00004
NM_020964.3(EPG5):c.150T>G (p.Ser50=) rs368060363 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.2940C>T (p.Asn980=) rs753235376 0.00003
NM_020964.3(EPG5):c.4205+7A>T rs376652885 0.00003
NM_020964.3(EPG5):c.4205+9G>A rs769965368 0.00003
NM_020964.3(EPG5):c.7287C>T (p.Leu2429=) rs771719040 0.00003
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 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.2257+11G>A rs375688315 0.00002
NM_020964.3(EPG5):c.3351G>A (p.Gly1117=) rs371129822 0.00002
NM_020964.3(EPG5):c.3441G>A (p.Glu1147=) rs755321821 0.00002
NM_020964.3(EPG5):c.3583-7G>C rs1372657836 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.3942G>A (p.Lys1314=) rs571017810 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.4803G>A (p.Thr1601=) rs758455820 0.00002
NM_020964.3(EPG5):c.5307C>T (p.Phe1769=) rs369940983 0.00002
NM_020964.3(EPG5):c.5518+15T>A rs372157962 0.00002
NM_020964.3(EPG5):c.5664G>A (p.Lys1888=) rs370568490 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.7442+11G>A rs368361879 0.00002
NM_020964.3(EPG5):c.7692C>T (p.Leu2564=) rs747189808 0.00002
NM_020964.3(EPG5):c.1008+16G>A rs938976280 0.00001
NM_020964.3(EPG5):c.1418C>T (p.Pro473Leu) rs189145719 0.00001
NM_020964.3(EPG5):c.1446T>C (p.His482=) rs1345031210 0.00001
NM_020964.3(EPG5):c.1608C>T (p.Ser536=) rs527293119 0.00001
NM_020964.3(EPG5):c.1749C>T (p.Pro583=) rs746257883 0.00001
NM_020964.3(EPG5):c.1943+18C>T rs1326536792 0.00001
NM_020964.3(EPG5):c.1971T>C (p.His657=) rs1390637838 0.00001
NM_020964.3(EPG5):c.1989C>T (p.Ser663=) rs368887661 0.00001
NM_020964.3(EPG5):c.2124C>T (p.Ser708=) rs571198688 0.00001
NM_020964.3(EPG5):c.2274C>T (p.Thr758=) rs1280940380 0.00001
NM_020964.3(EPG5):c.246T>C (p.Asp82=) rs1044415346 0.00001
NM_020964.3(EPG5):c.249A>C (p.Val83=) rs759140772 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.2679T>C (p.Cys893=) rs1218990203 0.00001
NM_020964.3(EPG5):c.2719-11C>T rs1355537575 0.00001
NM_020964.3(EPG5):c.2745C>T (p.Val915=) rs1186493680 0.00001
NM_020964.3(EPG5):c.2763A>G (p.Leu921=) rs1462083363 0.00001
NM_020964.3(EPG5):c.2868T>C (p.Tyr956=) rs762448921 0.00001
NM_020964.3(EPG5):c.2904C>G (p.Ala968=) rs1454534885 0.00001
NM_020964.3(EPG5):c.3045G>A (p.Ala1015=) rs772585558 0.00001
NM_020964.3(EPG5):c.3258C>T (p.Leu1086=) rs1482148787 0.00001
NM_020964.3(EPG5):c.3384+17C>T rs1308204102 0.00001
NM_020964.3(EPG5):c.3426C>T (p.Pro1142=) rs777286012 0.00001
NM_020964.3(EPG5):c.3583-10C>T rs1354144750 0.00001
NM_020964.3(EPG5):c.3583-8C>T rs757359611 0.00001
NM_020964.3(EPG5):c.369C>T (p.His123=) rs756190726 0.00001
NM_020964.3(EPG5):c.375A>G (p.Gly125=) rs1444139900 0.00001
NM_020964.3(EPG5):c.3969G>A (p.Pro1323=) rs373218143 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.4155T>C (p.Ser1385=) rs571870345 0.00001
NM_020964.3(EPG5):c.4206-15G>A rs1283815764 0.00001
NM_020964.3(EPG5):c.4329+20T>G rs963727204 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.4475-20A>G rs1181016789 0.00001
NM_020964.3(EPG5):c.450A>G (p.Gly150=) rs777737049 0.00001
NM_020964.3(EPG5):c.4596C>T (p.Asp1532=) rs201777260 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.4677T>A (p.Val1559=) rs756211681 0.00001
NM_020964.3(EPG5):c.4968C>G (p.Ala1656=) rs371896302 0.00001
NM_020964.3(EPG5):c.5028T>C (p.Ile1676=) rs1346661334 0.00001
NM_020964.3(EPG5):c.5273A>G (p.Asn1758Ser) rs143519809 0.00001
NM_020964.3(EPG5):c.5400C>A (p.Gly1800=) rs961209449 0.00001
NM_020964.3(EPG5):c.5518+15T>G rs372157962 0.00001
NM_020964.3(EPG5):c.552C>G (p.Gly184=) rs1599649645 0.00001
NM_020964.3(EPG5):c.5541C>T (p.Ser1847=) rs775740914 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.5872C>T (p.Leu1958=) rs374326658 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.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+15G>A rs755531149 0.00001
NM_020964.3(EPG5):c.6767-8C>T rs748817848 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.7053C>T (p.Ser2351=) rs2048569469 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.7245A>C (p.Ala2415=) rs1245397728 0.00001
NM_020964.3(EPG5):c.7302G>A (p.Gln2434=) rs140297677 0.00001
NM_020964.3(EPG5):c.732A>G (p.Pro244=) rs994903742 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.7446C>T (p.Phe2482=) rs528308462 0.00001
NM_020964.3(EPG5):c.7558-8T>C rs759398169 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.1005A>C (p.Val335=)
NM_020964.3(EPG5):c.1008+12A>G
NM_020964.3(EPG5):c.1008+18C>A
NM_020964.3(EPG5):c.1008+18C>G
NM_020964.3(EPG5):c.1008+20G>T
NM_020964.3(EPG5):c.1009-14T>C
NM_020964.3(EPG5):c.1009-17T>A
NM_020964.3(EPG5):c.1009-18C>G
NM_020964.3(EPG5):c.1009-20A>G
NM_020964.3(EPG5):c.1009-9C>T
NM_020964.3(EPG5):c.1014C>T (p.Ile338=)
NM_020964.3(EPG5):c.1029G>A (p.Val343=)
NM_020964.3(EPG5):c.1053C>T (p.Tyr351=)
NM_020964.3(EPG5):c.1056A>G (p.Gln352=)
NM_020964.3(EPG5):c.1059A>G (p.Arg353=) rs1599644906
NM_020964.3(EPG5):c.1080A>C (p.Ala360=)
NM_020964.3(EPG5):c.1098G>A (p.Lys366=)
NM_020964.3(EPG5):c.1110C>T (p.Ala370=)
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.1152T>C (p.Tyr384=)
NM_020964.3(EPG5):c.1161G>T (p.Val387=)
NM_020964.3(EPG5):c.1164C>T (p.Leu388=)
NM_020964.3(EPG5):c.1188C>T (p.Tyr396=) rs773448279
NM_020964.3(EPG5):c.1203C>T (p.Leu401=)
NM_020964.3(EPG5):c.1212A>C (p.Ser404=) rs2143745666
NM_020964.3(EPG5):c.1239C>T (p.His413=)
NM_020964.3(EPG5):c.123A>G (p.Lys41=)
NM_020964.3(EPG5):c.1245A>G (p.Gln415=)
NM_020964.3(EPG5):c.1252+17G>A
NM_020964.3(EPG5):c.126C>G (p.Thr42=)
NM_020964.3(EPG5):c.12G>C (p.Ala4=)
NM_020964.3(EPG5):c.12G>T (p.Ala4=)
NM_020964.3(EPG5):c.135G>A (p.Glu45=)
NM_020964.3(EPG5):c.1390-13C>T
NM_020964.3(EPG5):c.1390-20A>T
NM_020964.3(EPG5):c.1390-21_1390-20delinsAT
NM_020964.3(EPG5):c.1390-5T>C rs1555680767
NM_020964.3(EPG5):c.1390-6G>A
NM_020964.3(EPG5):c.1392A>G (p.Val464=)
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=)
NM_020964.3(EPG5):c.1443C>T (p.Asn481=)
NM_020964.3(EPG5):c.1497+10del
NM_020964.3(EPG5):c.1497+16A>C
NM_020964.3(EPG5):c.1497+20C>T
NM_020964.3(EPG5):c.1497+8G>A
NM_020964.3(EPG5):c.1498-14T>C
NM_020964.3(EPG5):c.150T>C (p.Ser50=)
NM_020964.3(EPG5):c.1527C>T (p.Val509=)
NM_020964.3(EPG5):c.1530T>C (p.Phe510=)
NM_020964.3(EPG5):c.1533T>C (p.His511=)
NM_020964.3(EPG5):c.1545C>G (p.Ser515=)
NM_020964.3(EPG5):c.1551C>G (p.Ala517=)
NM_020964.3(EPG5):c.1571+10C>T
NM_020964.3(EPG5):c.1571+20G>A rs2145941626
NM_020964.3(EPG5):c.1572-12C>T
NM_020964.3(EPG5):c.1572-4T>G
NM_020964.3(EPG5):c.1596C>T (p.His532=)
NM_020964.3(EPG5):c.1617G>A (p.Lys539=) rs2145928566
NM_020964.3(EPG5):c.1620A>G (p.Pro540=)
NM_020964.3(EPG5):c.1626C>A (p.Ser542=) rs904283996
NM_020964.3(EPG5):c.1626C>T (p.Ser542=)
NM_020964.3(EPG5):c.1632G>A (p.Gly544=)
NM_020964.3(EPG5):c.1638G>A (p.Gly546=)
NM_020964.3(EPG5):c.1641T>G (p.Ser547=) rs2145928339
NM_020964.3(EPG5):c.1662C>T (p.Asp554=)
NM_020964.3(EPG5):c.1677+10C>T
NM_020964.3(EPG5):c.1677+17G>T
NM_020964.3(EPG5):c.1677+8G>T
NM_020964.3(EPG5):c.1678-4T>A
NM_020964.3(EPG5):c.1678-6C>G
NM_020964.3(EPG5):c.1678-6C>T
NM_020964.3(EPG5):c.1678-7C>T
NM_020964.3(EPG5):c.1707C>A (p.Leu569=)
NM_020964.3(EPG5):c.1713T>C (p.Asn571=)
NM_020964.3(EPG5):c.1719T>C (p.Asp573=)
NM_020964.3(EPG5):c.177T>C (p.His59=)
NM_020964.3(EPG5):c.1792+14T>C
NM_020964.3(EPG5):c.1792+15C>T
NM_020964.3(EPG5):c.1793-19T>C
NM_020964.3(EPG5):c.1793-4C>T
NM_020964.3(EPG5):c.1800T>C (p.Tyr600=)
NM_020964.3(EPG5):c.1818A>G (p.Arg606=)
NM_020964.3(EPG5):c.1875T>C (p.Ala625=)
NM_020964.3(EPG5):c.1896T>C (p.Asn632=) rs372581222
NM_020964.3(EPG5):c.1935T>C (p.Tyr645=)
NM_020964.3(EPG5):c.1943+20A>G rs2145905978
NM_020964.3(EPG5):c.1944-10T>C
NM_020964.3(EPG5):c.1944-12C>T rs1343650854
NM_020964.3(EPG5):c.1944-16C>A
NM_020964.3(EPG5):c.1944-16C>G rs575676819
NM_020964.3(EPG5):c.1944-18_1944-16del
NM_020964.3(EPG5):c.1944-9C>T
NM_020964.3(EPG5):c.1977A>C (p.Ala659=)
NM_020964.3(EPG5):c.1980G>A (p.Gln660=)
NM_020964.3(EPG5):c.1992T>C (p.His664=)
NM_020964.3(EPG5):c.1998A>G (p.Gln666=)
NM_020964.3(EPG5):c.2013C>G (p.Ala671=)
NM_020964.3(EPG5):c.2016A>G (p.Gln672=)
NM_020964.3(EPG5):c.2019G>A (p.Gln673=)
NM_020964.3(EPG5):c.2022C>G (p.Pro674=)
NM_020964.3(EPG5):c.2052T>C (p.Phe684=)
NM_020964.3(EPG5):c.2073T>C (p.Ala691=)
NM_020964.3(EPG5):c.2088G>A (p.Leu696=)
NM_020964.3(EPG5):c.2091G>A (p.Lys697=)
NM_020964.3(EPG5):c.2099+11C>T
NM_020964.3(EPG5):c.2099+12A>G
NM_020964.3(EPG5):c.2099+14A>T
NM_020964.3(EPG5):c.2099+15T>G
NM_020964.3(EPG5):c.2099+19_2099+21del
NM_020964.3(EPG5):c.2099+8A>G
NM_020964.3(EPG5):c.2099+9G>A rs1599617384
NM_020964.3(EPG5):c.2100-12G>C
NM_020964.3(EPG5):c.2100-5T>C
NM_020964.3(EPG5):c.2124C>G (p.Ser708=)
NM_020964.3(EPG5):c.2139G>A (p.Gly713=) rs2050484777
NM_020964.3(EPG5):c.213T>C (p.Asp71=)
NM_020964.3(EPG5):c.2142T>C (p.Thr714=)
NM_020964.3(EPG5):c.2158C>T (p.Leu720=)
NM_020964.3(EPG5):c.2160G>A (p.Leu720=)
NM_020964.3(EPG5):c.2190G>A (p.Val730=)
NM_020964.3(EPG5):c.2196C>T (p.Ser732=)
NM_020964.3(EPG5):c.21C>T (p.Pro7=)
NM_020964.3(EPG5):c.2205G>A (p.Leu735=)
NM_020964.3(EPG5):c.2217C>T (p.Ser739=)
NM_020964.3(EPG5):c.2257+13C>T
NM_020964.3(EPG5):c.2257+14G>A
NM_020964.3(EPG5):c.2257+19G>A
NM_020964.3(EPG5):c.2257+19G>C
NM_020964.3(EPG5):c.2257+8C>A
NM_020964.3(EPG5):c.2258-11T>C
NM_020964.3(EPG5):c.2258-12A>G rs2145819905
NM_020964.3(EPG5):c.2258-6T>C
NM_020964.3(EPG5):c.2262A>G (p.Pro754=)
NM_020964.3(EPG5):c.2268T>C (p.His756=)
NM_020964.3(EPG5):c.2304T>C (p.Asn768=)
NM_020964.3(EPG5):c.2316G>A (p.Glu772=)
NM_020964.3(EPG5):c.2334C>G (p.Thr778=)
NM_020964.3(EPG5):c.2364C>T (p.Thr788=)
NM_020964.3(EPG5):c.2403G>A (p.Glu801=)
NM_020964.3(EPG5):c.2412+14G>A
NM_020964.3(EPG5):c.2412+14G>T
NM_020964.3(EPG5):c.2412+8T>A
NM_020964.3(EPG5):c.2413-10C>A
NM_020964.3(EPG5):c.2413-11C>A
NM_020964.3(EPG5):c.2413-12C>G
NM_020964.3(EPG5):c.2413-12C>T
NM_020964.3(EPG5):c.2413-14T>C
NM_020964.3(EPG5):c.2413-16C>G rs550407878
NM_020964.3(EPG5):c.2413-19C>T
NM_020964.3(EPG5):c.2413-6A>G
NM_020964.3(EPG5):c.2413-9C>T rs1394335237
NM_020964.3(EPG5):c.2421T>C (p.Tyr807=)
NM_020964.3(EPG5):c.2433T>C (p.Ser811=)
NM_020964.3(EPG5):c.2439A>G (p.Arg813=)
NM_020964.3(EPG5):c.2481C>T (p.Ile827=)
NM_020964.3(EPG5):c.2493C>T (p.His831=)
NM_020964.3(EPG5):c.2499G>A (p.Glu833=)
NM_020964.3(EPG5):c.2511C>A (p.Val837=)
NM_020964.3(EPG5):c.252A>T (p.Pro84=)
NM_020964.3(EPG5):c.2553+9A>G
NM_020964.3(EPG5):c.2554-16T>C
NM_020964.3(EPG5):c.2554-20dup
NM_020964.3(EPG5):c.255C>T (p.Leu85=)
NM_020964.3(EPG5):c.2577A>G (p.Glu859=)
NM_020964.3(EPG5):c.2601T>G (p.Pro867=)
NM_020964.3(EPG5):c.2604T>C (p.Ser868=)
NM_020964.3(EPG5):c.2619G>A (p.Ala873=)
NM_020964.3(EPG5):c.2622G>C (p.Val874=)
NM_020964.3(EPG5):c.2646C>T (p.Tyr882=) rs2145782921
NM_020964.3(EPG5):c.2676C>T (p.Ala892=)
NM_020964.3(EPG5):c.2682T>C (p.Val894=) rs776504642
NM_020964.3(EPG5):c.2694A>G (p.Gly898=)
NM_020964.3(EPG5):c.2697G>A (p.Leu899=) rs1599585460
NM_020964.3(EPG5):c.2700T>C (p.Asn900=)
NM_020964.3(EPG5):c.2718+14C>T
NM_020964.3(EPG5):c.2718+15C>A rs2050252535
NM_020964.3(EPG5):c.2718+17T>C
NM_020964.3(EPG5):c.2718+20C>T
NM_020964.3(EPG5):c.2718+7G>A
NM_020964.3(EPG5):c.2719-11_2719-6del
NM_020964.3(EPG5):c.2719-20A>G rs780579120
NM_020964.3(EPG5):c.2724C>A (p.Thr908=)
NM_020964.3(EPG5):c.2724C>T (p.Thr908=)
NM_020964.3(EPG5):c.2751T>C (p.Ala917=)
NM_020964.3(EPG5):c.276T>C (p.Asn92=)
NM_020964.3(EPG5):c.2784G>A (p.Gln928=)
NM_020964.3(EPG5):c.2796A>G (p.Ala932=)
NM_020964.3(EPG5):c.2808T>C (p.Tyr936=)
NM_020964.3(EPG5):c.2820C>G (p.Leu940=)
NM_020964.3(EPG5):c.2838+11C>G
NM_020964.3(EPG5):c.2838+13C>G
NM_020964.3(EPG5):c.2838+19A>G
NM_020964.3(EPG5):c.2838+19A>T rs374315601
NM_020964.3(EPG5):c.2838+7C>T
NM_020964.3(EPG5):c.2839-16T>C
NM_020964.3(EPG5):c.2839-20A>G
NM_020964.3(EPG5):c.2844A>G (p.Ser948=)
NM_020964.3(EPG5):c.2844A>T (p.Ser948=)
NM_020964.3(EPG5):c.285C>T (p.Ser95=)
NM_020964.3(EPG5):c.2865A>C (p.Arg955=)
NM_020964.3(EPG5):c.2871A>G (p.Gly957=)
NM_020964.3(EPG5):c.2880C>G (p.Pro960=)
NM_020964.3(EPG5):c.2880C>T (p.Pro960=) rs577918967
NM_020964.3(EPG5):c.2904C>A (p.Ala968=)
NM_020964.3(EPG5):c.2916C>T (p.Ile972=)
NM_020964.3(EPG5):c.291G>A (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.291G>C (p.Thr97=)
NM_020964.3(EPG5):c.291G>T (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.2976C>A (p.Pro992=)
NM_020964.3(EPG5):c.2982C>T (p.Ser994=)
NM_020964.3(EPG5):c.3003A>G (p.Thr1001=)
NM_020964.3(EPG5):c.3027C>G (p.Leu1009=)
NM_020964.3(EPG5):c.303G>A (p.Glu101=)
NM_020964.3(EPG5):c.3045G>C (p.Ala1015=) rs772585558
NM_020964.3(EPG5):c.3054C>T (p.Pro1018=)
NM_020964.3(EPG5):c.3067C>T (p.Leu1023=)
NM_020964.3(EPG5):c.3084A>G (p.Thr1028=)
NM_020964.3(EPG5):c.3087T>C (p.Ala1029=)
NM_020964.3(EPG5):c.3098+14C>T
NM_020964.3(EPG5):c.3098+15T>C
NM_020964.3(EPG5):c.3098+18A>T
NM_020964.3(EPG5):c.3099-14C>T
NM_020964.3(EPG5):c.3111C>T (p.Phe1037=)
NM_020964.3(EPG5):c.3114T>C (p.Cys1038=) rs1213183628
NM_020964.3(EPG5):c.3117A>G (p.Ala1039=)
NM_020964.3(EPG5):c.3132A>G (p.Leu1044=)
NM_020964.3(EPG5):c.3133T>C (p.Leu1045=)
NM_020964.3(EPG5):c.3150G>A (p.Gln1050=)
NM_020964.3(EPG5):c.3171G>A (p.Val1057=)
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=)
NM_020964.3(EPG5):c.3234T>C (p.Asn1078=)
NM_020964.3(EPG5):c.3239+12C>G
NM_020964.3(EPG5):c.3239+15T>C
NM_020964.3(EPG5):c.3239+18A>G
NM_020964.3(EPG5):c.3240-9G>A
NM_020964.3(EPG5):c.3261G>A (p.Leu1087=) rs1599566104
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=)
NM_020964.3(EPG5):c.3330C>T (p.His1110=)
NM_020964.3(EPG5):c.3336A>G (p.Thr1112=)
NM_020964.3(EPG5):c.333C>T (p.Pro111=)
NM_020964.3(EPG5):c.3348T>C (p.His1116=)
NM_020964.3(EPG5):c.3357C>T (p.Asn1119=)
NM_020964.3(EPG5):c.3372C>T (p.Asn1124=)
NM_020964.3(EPG5):c.3375C>T (p.Ser1125=)
NM_020964.3(EPG5):c.3384+15dup
NM_020964.3(EPG5):c.3384+16G>A
NM_020964.3(EPG5):c.3384+19C>T
NM_020964.3(EPG5):c.3384+7G>A
NM_020964.3(EPG5):c.3385-10T>G
NM_020964.3(EPG5):c.3385-13C>T
NM_020964.3(EPG5):c.3385-6C>T
NM_020964.3(EPG5):c.3385-7T>C
NM_020964.3(EPG5):c.339G>C (p.Val113=)
NM_020964.3(EPG5):c.339G>T (p.Val113=) rs748481509
NM_020964.3(EPG5):c.3411C>A (p.Pro1137=)
NM_020964.3(EPG5):c.3426C>G (p.Pro1142=)
NM_020964.3(EPG5):c.3432T>C (p.Ala1144=)
NM_020964.3(EPG5):c.3435G>A (p.Val1145=) rs963294372
NM_020964.3(EPG5):c.3474C>G (p.Leu1158=)
NM_020964.3(EPG5):c.348T>C (p.Ser116=)
NM_020964.3(EPG5):c.351A>G (p.Ala117=)
NM_020964.3(EPG5):c.3543G>A (p.Gln1181=)
NM_020964.3(EPG5):c.3576A>G (p.Gln1192=)
NM_020964.3(EPG5):c.3582+13T>C
NM_020964.3(EPG5):c.3582+15A>G
NM_020964.3(EPG5):c.3582+18G>T
NM_020964.3(EPG5):c.3582+5_3582+8dup
NM_020964.3(EPG5):c.3583-11T>C
NM_020964.3(EPG5):c.3583-15C>T
NM_020964.3(EPG5):c.3583-17C>T
NM_020964.3(EPG5):c.3583-18C>T
NM_020964.3(EPG5):c.3583-6G>A
NM_020964.3(EPG5):c.3583-7G>T
NM_020964.3(EPG5):c.3585T>C (p.Asn1195=) rs1482375160
NM_020964.3(EPG5):c.3594T>C (p.Gly1198=)
NM_020964.3(EPG5):c.3597C>T (p.Tyr1199=)
NM_020964.3(EPG5):c.3613C>T (p.Leu1205=)
NM_020964.3(EPG5):c.3618C>G (p.Leu1206=) rs2050011270
NM_020964.3(EPG5):c.3651C>T (p.Asn1217=)
NM_020964.3(EPG5):c.3681C>T (p.Ala1227=)
NM_020964.3(EPG5):c.3684G>A (p.Thr1228=)
NM_020964.3(EPG5):c.3684G>C (p.Thr1228=)
NM_020964.3(EPG5):c.3693+13C>G
NM_020964.3(EPG5):c.3693+17G>A
NM_020964.3(EPG5):c.3693+18_3693+19del rs758272766
NM_020964.3(EPG5):c.3693+19G>A
NM_020964.3(EPG5):c.3693+19G>C
NM_020964.3(EPG5):c.3693+8A>G
NM_020964.3(EPG5):c.3694-15C>T
NM_020964.3(EPG5):c.3694-18T>C
NM_020964.3(EPG5):c.3694-20T>G
NM_020964.3(EPG5):c.3694-4A>G
NM_020964.3(EPG5):c.3694-9T>G
NM_020964.3(EPG5):c.3696C>T (p.Val1232=) rs2145694406
NM_020964.3(EPG5):c.36G>A (p.Lys12=)
NM_020964.3(EPG5):c.3747C>T (p.Ser1249=)
NM_020964.3(EPG5):c.3768A>G (p.Glu1256=)
NM_020964.3(EPG5):c.3816+11C>G
NM_020964.3(EPG5):c.3816+15del
NM_020964.3(EPG5):c.3816+16C>A
NM_020964.3(EPG5):c.3817-9T>G
NM_020964.3(EPG5):c.381T>C (p.Asn127=)
NM_020964.3(EPG5):c.3822C>G (p.Ala1274=) rs2145683945
NM_020964.3(EPG5):c.3825G>A (p.Gln1275=)
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=)
NM_020964.3(EPG5):c.3888C>T (p.His1296=)
NM_020964.3(EPG5):c.390T>C (p.Thr130=)
NM_020964.3(EPG5):c.3918C>G (p.Pro1306=)
NM_020964.3(EPG5):c.3922C>T (p.Leu1308=)
NM_020964.3(EPG5):c.3930C>T (p.Leu1310=) rs2145683028
NM_020964.3(EPG5):c.3945C>T (p.Phe1315=)
NM_020964.3(EPG5):c.3948C>T (p.Phe1316=)
NM_020964.3(EPG5):c.3983+12A>C
NM_020964.3(EPG5):c.3983+16T>C
NM_020964.3(EPG5):c.3983+17T>C
NM_020964.3(EPG5):c.3983+18G>T
NM_020964.3(EPG5):c.3983+8_3983+10dup
NM_020964.3(EPG5):c.3983+9C>T
NM_020964.3(EPG5):c.3984-12G>C rs2145667569
NM_020964.3(EPG5):c.3984-19T>C
NM_020964.3(EPG5):c.3984-6T>C
NM_020964.3(EPG5):c.3984-8T>A rs1312462490
NM_020964.3(EPG5):c.4005T>C (p.Ile1335=)
NM_020964.3(EPG5):c.402C>G (p.Thr134=)
NM_020964.3(EPG5):c.4045T>C (p.Leu1349=)
NM_020964.3(EPG5):c.4066T>C (p.Leu1356=)
NM_020964.3(EPG5):c.4071C>T (p.Thr1357=)
NM_020964.3(EPG5):c.4074G>A (p.Glu1358=)
NM_020964.3(EPG5):c.408G>A (p.Lys136=)
NM_020964.3(EPG5):c.4095T>C (p.Ala1365=)
NM_020964.3(EPG5):c.4125G>A (p.Glu1375=)
NM_020964.3(EPG5):c.4152C>T (p.His1384=)
NM_020964.3(EPG5):c.4161C>G (p.Thr1387=)
NM_020964.3(EPG5):c.4161C>T (p.Thr1387=)
NM_020964.3(EPG5):c.4173G>T (p.Leu1391=)
NM_020964.3(EPG5):c.4186C>T (p.Leu1396=)
NM_020964.3(EPG5):c.4191C>T (p.His1397=)
NM_020964.3(EPG5):c.4205+12T>C
NM_020964.3(EPG5):c.4205+15T>G
NM_020964.3(EPG5):c.4205+19C>T
NM_020964.3(EPG5):c.4218A>G (p.Val1406=) rs1599546418
NM_020964.3(EPG5):c.4233A>G (p.Leu1411=)
NM_020964.3(EPG5):c.4251A>G (p.Gln1417=)
NM_020964.3(EPG5):c.4260T>C (p.Asp1420=)
NM_020964.3(EPG5):c.4263C>G (p.Thr1421=)
NM_020964.3(EPG5):c.4269C>T (p.Ile1423=) rs765537954
NM_020964.3(EPG5):c.4284G>A (p.Lys1428=)
NM_020964.3(EPG5):c.4290T>C (p.Tyr1430=)
NM_020964.3(EPG5):c.4300A>C (p.Arg1434=)
NM_020964.3(EPG5):c.4302G>A (p.Arg1434=)
NM_020964.3(EPG5):c.4329+13C>A
NM_020964.3(EPG5):c.4329+13C>T
NM_020964.3(EPG5):c.4329+14C>A
NM_020964.3(EPG5):c.4329+15C>T
NM_020964.3(EPG5):c.4329+17C>T
NM_020964.3(EPG5):c.4329+18_4329+22del
NM_020964.3(EPG5):c.4329+19T>G
NM_020964.3(EPG5):c.4330-12G>A rs770404883
NM_020964.3(EPG5):c.4330-12G>C
NM_020964.3(EPG5):c.4330-14T>C
NM_020964.3(EPG5):c.4330-15G>A
NM_020964.3(EPG5):c.4330-17C>G
NM_020964.3(EPG5):c.4330-17del
NM_020964.3(EPG5):c.4330-7G>C
NM_020964.3(EPG5):c.4330-8T>C
NM_020964.3(EPG5):c.4330-9C>G
NM_020964.3(EPG5):c.4347T>C (p.Tyr1449=)
NM_020964.3(EPG5):c.4374G>A (p.Glu1458=)
NM_020964.3(EPG5):c.4380G>A (p.Gln1460=)
NM_020964.3(EPG5):c.4386T>G (p.Thr1462=)
NM_020964.3(EPG5):c.438G>C (p.Ser146=)
NM_020964.3(EPG5):c.4401A>C (p.Thr1467=)
NM_020964.3(EPG5):c.4443C>T (p.Ser1481=)
NM_020964.3(EPG5):c.4452G>A (p.Leu1484=)
NM_020964.3(EPG5):c.4474+12dup rs1459072623
NM_020964.3(EPG5):c.4474+17C>T
NM_020964.3(EPG5):c.4474+20G>A
NM_020964.3(EPG5):c.4474+9T>C
NM_020964.3(EPG5):c.4485G>A (p.Arg1495=)
NM_020964.3(EPG5):c.4497C>T (p.Asn1499=)
NM_020964.3(EPG5):c.450A>T (p.Gly150=)
NM_020964.3(EPG5):c.4527C>T (p.Pro1509=)
NM_020964.3(EPG5):c.4542G>A (p.Pro1514=)
NM_020964.3(EPG5):c.4542G>T (p.Pro1514=)
NM_020964.3(EPG5):c.4545G>A (p.Thr1515=)
NM_020964.3(EPG5):c.4548G>A (p.Lys1516=)
NM_020964.3(EPG5):c.4554T>C (p.Pro1518=)
NM_020964.3(EPG5):c.4557G>C (p.Val1519=)
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.4608G>A (p.Leu1536=) rs2145588277
NM_020964.3(EPG5):c.4620C>T (p.Asp1540=)
NM_020964.3(EPG5):c.4646+10T>C
NM_020964.3(EPG5):c.4646+11G>A
NM_020964.3(EPG5):c.4646+12C>A
NM_020964.3(EPG5):c.4646+13A>G
NM_020964.3(EPG5):c.4646+15C>T
NM_020964.3(EPG5):c.4646+16dup
NM_020964.3(EPG5):c.4646+18C>T
NM_020964.3(EPG5):c.4646+19A>G
NM_020964.3(EPG5):c.4646+7C>A
NM_020964.3(EPG5):c.4646+9A>G
NM_020964.3(EPG5):c.4647-11A>G
NM_020964.3(EPG5):c.4647-12G>T
NM_020964.3(EPG5):c.4647-6_4647-4del
NM_020964.3(EPG5):c.4647-8T>G
NM_020964.3(EPG5):c.4659T>A (p.Leu1553=)
NM_020964.3(EPG5):c.4659T>C (p.Leu1553=)
NM_020964.3(EPG5):c.4671G>A (p.Gln1557=)
NM_020964.3(EPG5):c.4674G>A (p.Gln1558=)
NM_020964.3(EPG5):c.4680T>C (p.Ala1560=)
NM_020964.3(EPG5):c.4686T>C (p.Asp1562=) rs2145576325
NM_020964.3(EPG5):c.468C>G (p.Pro156=)
NM_020964.3(EPG5):c.4695G>A (p.Leu1565=)
NM_020964.3(EPG5):c.4704A>C (p.Thr1568=)
NM_020964.3(EPG5):c.4713G>A (p.Lys1571=) rs2049556298
NM_020964.3(EPG5):c.471A>G (p.Gln157=)
NM_020964.3(EPG5):c.4740C>T (p.Thr1580=)
NM_020964.3(EPG5):c.4743A>G (p.Thr1581=) rs1225206726
NM_020964.3(EPG5):c.4750T>C (p.Leu1584=)
NM_020964.3(EPG5):c.4758C>T (p.Cys1586=)
NM_020964.3(EPG5):c.4764C>T (p.Gly1588=)
NM_020964.3(EPG5):c.4767C>T (p.Ser1589=)
NM_020964.3(EPG5):c.4770C>T (p.Ser1590=)
NM_020964.3(EPG5):c.4794A>T (p.Ala1598=)
NM_020964.3(EPG5):c.4809+13A>G
NM_020964.3(EPG5):c.480T>C (p.Phe160=)
NM_020964.3(EPG5):c.4810-16C>G
NM_020964.3(EPG5):c.4845A>G (p.Gln1615=)
NM_020964.3(EPG5):c.4869A>G (p.Glu1623=)
NM_020964.3(EPG5):c.486T>C (p.Tyr162=)
NM_020964.3(EPG5):c.4878G>A (p.Gln1626=)
NM_020964.3(EPG5):c.4917T>C (p.Ile1639=)
NM_020964.3(EPG5):c.4952+16A>G
NM_020964.3(EPG5):c.4952+19A>G
NM_020964.3(EPG5):c.4952+8T>C
NM_020964.3(EPG5):c.4953-13C>T
NM_020964.3(EPG5):c.4953-14A>G
NM_020964.3(EPG5):c.4953-15del
NM_020964.3(EPG5):c.495A>C (p.Pro165=) rs2143788407
NM_020964.3(EPG5):c.4962G>A (p.Val1654=)
NM_020964.3(EPG5):c.4983T>C (p.Pro1661=)
NM_020964.3(EPG5):c.4986A>C (p.Thr1662=)
NM_020964.3(EPG5):c.4989T>C (p.Pro1663=)
NM_020964.3(EPG5):c.5007C>T (p.Gly1669=)
NM_020964.3(EPG5):c.5016T>A (p.Leu1672=) rs2145474336
NM_020964.3(EPG5):c.5040C>G (p.Val1680=)
NM_020964.3(EPG5):c.5052G>C (p.Thr1684=)
NM_020964.3(EPG5):c.5064C>T (p.Pro1688=)
NM_020964.3(EPG5):c.5070A>C (p.Thr1690=)
NM_020964.3(EPG5):c.5109+13del
NM_020964.3(EPG5):c.5109+15A>G
NM_020964.3(EPG5):c.5109+17C>A
NM_020964.3(EPG5):c.5109+9A>C
NM_020964.3(EPG5):c.510A>C (p.Ile170=)
NM_020964.3(EPG5):c.5110-16T>C
NM_020964.3(EPG5):c.5110-17C>G
NM_020964.3(EPG5):c.5110-18C>T
NM_020964.3(EPG5):c.5110-19T>C
NM_020964.3(EPG5):c.5110-4C>G rs1599490108
NM_020964.3(EPG5):c.5110-5C>T
NM_020964.3(EPG5):c.5112A>G (p.Val1704=)
NM_020964.3(EPG5):c.5121T>C (p.Ser1707=)
NM_020964.3(EPG5):c.5157C>T (p.Thr1719=)
NM_020964.3(EPG5):c.5161C>T (p.Leu1721=)
NM_020964.3(EPG5):c.5205T>A (p.Thr1735=) rs2145444187
NM_020964.3(EPG5):c.5208C>T (p.Pro1736=)
NM_020964.3(EPG5):c.5238G>A (p.Leu1746=)
NM_020964.3(EPG5):c.5244G>A (p.Glu1748=)
NM_020964.3(EPG5):c.5250G>T (p.Val1750=)
NM_020964.3(EPG5):c.5268G>A (p.Glu1756=)
NM_020964.3(EPG5):c.5271C>T (p.Asp1757=)
NM_020964.3(EPG5):c.5289C>T (p.Phe1763=)
NM_020964.3(EPG5):c.5301C>G (p.Thr1767=)
NM_020964.3(EPG5):c.5301C>T (p.Thr1767=)
NM_020964.3(EPG5):c.5304+14C>T
NM_020964.3(EPG5):c.5304+15C>T
NM_020964.3(EPG5):c.5304+18C>T
NM_020964.3(EPG5):c.5304+8G>A
NM_020964.3(EPG5):c.5305-18G>A rs2049119366
NM_020964.3(EPG5):c.5305-20_5305-19del
NM_020964.3(EPG5):c.531T>C (p.Asn177=)
NM_020964.3(EPG5):c.5344C>T (p.Leu1782=) rs1460858428
NM_020964.3(EPG5):c.5365C>T (p.Leu1789=)
NM_020964.3(EPG5):c.5370G>A (p.Glu1790=)
NM_020964.3(EPG5):c.5385A>C (p.Ala1795=)
NM_020964.3(EPG5):c.5403T>C (p.Leu1801=)
NM_020964.3(EPG5):c.5418T>C (p.Asp1806=)
NM_020964.3(EPG5):c.5433T>C (p.Phe1811=)
NM_020964.3(EPG5):c.5436T>C (p.Asn1812=)
NM_020964.3(EPG5):c.5439T>C (p.Leu1813=)
NM_020964.3(EPG5):c.5451C>T (p.His1817=)
NM_020964.3(EPG5):c.5460T>C (p.Tyr1820=)
NM_020964.3(EPG5):c.5466T>C (p.Leu1822=)
NM_020964.3(EPG5):c.546A>G (p.Lys182=)
NM_020964.3(EPG5):c.5472C>T (p.Tyr1824=)
NM_020964.3(EPG5):c.5490C>T (p.Tyr1830=)
NM_020964.3(EPG5):c.5518+13A>G
NM_020964.3(EPG5):c.5518+14T>C
NM_020964.3(EPG5):c.5518+7G>A
NM_020964.3(EPG5):c.5518+7G>T
NM_020964.3(EPG5):c.5518+7_5518+8del
NM_020964.3(EPG5):c.5518+8T>G
NM_020964.3(EPG5):c.5518+9C>T rs747598069
NM_020964.3(EPG5):c.5519-12C>G
NM_020964.3(EPG5):c.5519-15T>C
NM_020964.3(EPG5):c.5519-19T>C
NM_020964.3(EPG5):c.5519-20_5519-19del
NM_020964.3(EPG5):c.5519-9T>G
NM_020964.3(EPG5):c.5526G>A (p.Ala1842=) rs749486885
NM_020964.3(EPG5):c.552C>T (p.Gly184=)
NM_020964.3(EPG5):c.5532G>A (p.Gln1844=) rs2145406202
NM_020964.3(EPG5):c.5536C>T (p.Leu1846=)
NM_020964.3(EPG5):c.5538G>C (p.Leu1846=)
NM_020964.3(EPG5):c.5550T>C (p.Cys1850=)
NM_020964.3(EPG5):c.5556G>A (p.Lys1852=)
NM_020964.3(EPG5):c.5571C>G (p.Ala1857=)
NM_020964.3(EPG5):c.5571C>T (p.Ala1857=)
NM_020964.3(EPG5):c.5574G>A (p.Leu1858=)
NM_020964.3(EPG5):c.5589C>G (p.Pro1863=)
NM_020964.3(EPG5):c.5601G>A (p.Gln1867=)
NM_020964.3(EPG5):c.5616C>A (p.Thr1872=) rs141282194
NM_020964.3(EPG5):c.5622C>T (p.Gly1874=)
NM_020964.3(EPG5):c.5625C>A (p.Ala1875=)
NM_020964.3(EPG5):c.5625C>T (p.Ala1875=)
NM_020964.3(EPG5):c.5634C>T (p.Pro1878=) rs768384188
NM_020964.3(EPG5):c.5646T>C (p.Asp1882=)
NM_020964.3(EPG5):c.5649T>A (p.Ala1883=)
NM_020964.3(EPG5):c.5658A>G (p.Ser1886=)
NM_020964.3(EPG5):c.5667+17C>G
NM_020964.3(EPG5):c.5667+18T>C
NM_020964.3(EPG5):c.5667+7A>G
NM_020964.3(EPG5):c.5667+8G>A
NM_020964.3(EPG5):c.5668-12T>G
NM_020964.3(EPG5):c.5668-15A>C
NM_020964.3(EPG5):c.5694A>C (p.Ser1898=)
NM_020964.3(EPG5):c.5718A>G (p.Leu1906=)
NM_020964.3(EPG5):c.573G>A (p.Val191=)
NM_020964.3(EPG5):c.5748A>G (p.Leu1916=)
NM_020964.3(EPG5):c.5778T>C (p.Asp1926=)
NM_020964.3(EPG5):c.5790C>T (p.Phe1930=)
NM_020964.3(EPG5):c.5799C>T (p.Tyr1933=)
NM_020964.3(EPG5):c.5811G>A (p.Arg1937=)
NM_020964.3(EPG5):c.5814G>A (p.Leu1938=)
NM_020964.3(EPG5):c.5823A>G (p.Leu1941=) rs2145393184
NM_020964.3(EPG5):c.5832C>T (p.Thr1944=)
NM_020964.3(EPG5):c.5841C>T (p.Ala1947=)
NM_020964.3(EPG5):c.5847C>T (p.Asp1949=)
NM_020964.3(EPG5):c.5853T>G (p.Thr1951=)
NM_020964.3(EPG5):c.5865A>G (p.Lys1955=)
NM_020964.3(EPG5):c.5869+10T>A
NM_020964.3(EPG5):c.5869+10T>C
NM_020964.3(EPG5):c.5869+13T>C
NM_020964.3(EPG5):c.5869+15A>C
NM_020964.3(EPG5):c.5869+17G>A
NM_020964.3(EPG5):c.5869+18C>A
NM_020964.3(EPG5):c.5869+19G>A
NM_020964.3(EPG5):c.5869+19G>T rs751631563
NM_020964.3(EPG5):c.5869+20A>T
NM_020964.3(EPG5):c.5869+9C>T
NM_020964.3(EPG5):c.5870-15T>A
NM_020964.3(EPG5):c.5870-16_5870-14del
NM_020964.3(EPG5):c.5870-18G>A rs2049019136
NM_020964.3(EPG5):c.5883A>G (p.Leu1961=)
NM_020964.3(EPG5):c.5886T>C (p.His1962=)
NM_020964.3(EPG5):c.5889A>C (p.Ser1963=)
NM_020964.3(EPG5):c.5901G>A (p.Gln1967=)
NM_020964.3(EPG5):c.5907T>C (p.Phe1969=)
NM_020964.3(EPG5):c.5913A>G (p.Pro1971=)
NM_020964.3(EPG5):c.5913A>T (p.Pro1971=)
NM_020964.3(EPG5):c.5937C>T (p.Asn1979=)
NM_020964.3(EPG5):c.5940A>G (p.Glu1980=)
NM_020964.3(EPG5):c.5942+10T>A
NM_020964.3(EPG5):c.5942+11T>C
NM_020964.3(EPG5):c.5942+15A>G
NM_020964.3(EPG5):c.5942+19A>G
NM_020964.3(EPG5):c.5942+7A>G rs1568114373
NM_020964.3(EPG5):c.5943-10T>C
NM_020964.3(EPG5):c.5943-14T>C rs1289958063
NM_020964.3(EPG5):c.5943-19G>A
NM_020964.3(EPG5):c.5943-4A>C
NM_020964.3(EPG5):c.5949A>G (p.Gln1983=) rs909993678
NM_020964.3(EPG5):c.5955G>A (p.Arg1985=)
NM_020964.3(EPG5):c.5964C>T (p.Pro1988=)
NM_020964.3(EPG5):c.5970A>G (p.Leu1990=)
NM_020964.3(EPG5):c.5976T>C (p.Ser1992=)
NM_020964.3(EPG5):c.5985G>A (p.Val1995=) rs2145364689
NM_020964.3(EPG5):c.5988G>A (p.Val1996=)
NM_020964.3(EPG5):c.6049+10T>C
NM_020964.3(EPG5):c.6049+19G>A
NM_020964.3(EPG5):c.6050-4C>G rs2145311347
NM_020964.3(EPG5):c.6050-5T>C
NM_020964.3(EPG5):c.6050-6T>C
NM_020964.3(EPG5):c.6054G>A (p.Lys2018=)
NM_020964.3(EPG5):c.606A>C (p.Pro202=) rs779003764
NM_020964.3(EPG5):c.6090C>T (p.His2030=)
NM_020964.3(EPG5):c.6093G>A (p.Leu2031=) rs2145310571
NM_020964.3(EPG5):c.60A>G (p.Thr20=)
NM_020964.3(EPG5):c.6102T>C (p.Tyr2034=)
NM_020964.3(EPG5):c.6111A>G (p.Ala2037=)
NM_020964.3(EPG5):c.6132A>G (p.Pro2044=)
NM_020964.3(EPG5):c.6153C>T (p.Phe2051=) rs1325744104
NM_020964.3(EPG5):c.6156T>C (p.His2052=)
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6171A>G (p.Lys2057=)
NM_020964.3(EPG5):c.6174G>A (p.Leu2058=)
NM_020964.3(EPG5):c.6177A>G (p.Pro2059=)
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.6213G>A (p.Glu2071=) rs1799077479
NM_020964.3(EPG5):c.6225+16C>T
NM_020964.3(EPG5):c.6225+18G>A
NM_020964.3(EPG5):c.6225+19G>A
NM_020964.3(EPG5):c.6225+7C>G
NM_020964.3(EPG5):c.6225+9_6225+11del
NM_020964.3(EPG5):c.6226-12A>G
NM_020964.3(EPG5):c.6226-14T>C
NM_020964.3(EPG5):c.6231A>G (p.Glu2077=) rs2145278065
NM_020964.3(EPG5):c.6237A>G (p.Gly2079=)
NM_020964.3(EPG5):c.6246G>A (p.Lys2082=)
NM_020964.3(EPG5):c.6249C>T (p.Ser2083=)
NM_020964.3(EPG5):c.624G>A (p.Gln208=) rs538841155
NM_020964.3(EPG5):c.6252T>C (p.Cys2084=)
NM_020964.3(EPG5):c.6262T>C (p.Leu2088=) rs2048776724
NM_020964.3(EPG5):c.6267G>A (p.Gly2089=)
NM_020964.3(EPG5):c.6285C>G (p.Val2095=)
NM_020964.3(EPG5):c.63+13C>T
NM_020964.3(EPG5):c.63+14C>T
NM_020964.3(EPG5):c.63+15C>G
NM_020964.3(EPG5):c.63+16del
NM_020964.3(EPG5):c.63+17C>G
NM_020964.3(EPG5):c.63+8T>A
NM_020964.3(EPG5):c.63+9C>T
NM_020964.3(EPG5):c.6312C>A (p.Ala2104=)
NM_020964.3(EPG5):c.6321C>T (p.Ser2107=) rs1005071205
NM_020964.3(EPG5):c.6330C>T (p.His2110=)
NM_020964.3(EPG5):c.633A>G (p.Arg211=)
NM_020964.3(EPG5):c.6345C>T (p.Ser2115=)
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=)
NM_020964.3(EPG5):c.6379T>C (p.Leu2127=)
NM_020964.3(EPG5):c.6397C>T (p.Leu2133=)
NM_020964.3(EPG5):c.64-13A>G
NM_020964.3(EPG5):c.64-15G>A
NM_020964.3(EPG5):c.64-18T>A
NM_020964.3(EPG5):c.64-20A>G
NM_020964.3(EPG5):c.64-7T>C
NM_020964.3(EPG5):c.64-8G>A
NM_020964.3(EPG5):c.6405C>T (p.Asp2135=)
NM_020964.3(EPG5):c.6411+11G>A
NM_020964.3(EPG5):c.6411+15C>T
NM_020964.3(EPG5):c.6411+17T>C
NM_020964.3(EPG5):c.6411+19T>C
NM_020964.3(EPG5):c.6412-20A>C
NM_020964.3(EPG5):c.6453T>G (p.Leu2151=)
NM_020964.3(EPG5):c.6456A>C (p.Ser2152=)
NM_020964.3(EPG5):c.6456A>G (p.Ser2152=)
NM_020964.3(EPG5):c.6462T>C (p.His2154=)
NM_020964.3(EPG5):c.6483C>T (p.Tyr2161=) rs1413653727
NM_020964.3(EPG5):c.6489T>C (p.Ser2163=)
NM_020964.3(EPG5):c.6519G>C (p.Pro2173=)
NM_020964.3(EPG5):c.6531C>T (p.Ile2177=)
NM_020964.3(EPG5):c.6549T>C (p.Tyr2183=)
NM_020964.3(EPG5):c.655T>C (p.Leu219=)
NM_020964.3(EPG5):c.6579G>A (p.Val2193=)
NM_020964.3(EPG5):c.6585G>A (p.Ala2195=)
NM_020964.3(EPG5):c.6594T>C (p.Ser2198=)
NM_020964.3(EPG5):c.6621+12G>A
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
NM_020964.3(EPG5):c.6621+19T>C
NM_020964.3(EPG5):c.6621+20A>G
NM_020964.3(EPG5):c.6621+9A>G
NM_020964.3(EPG5):c.6622-12T>C
NM_020964.3(EPG5):c.6622-14_6622-7dup
NM_020964.3(EPG5):c.6622-15_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-16T>A
NM_020964.3(EPG5):c.6622-19T>A
NM_020964.3(EPG5):c.6622-19T>G
NM_020964.3(EPG5):c.6622-19_6622-7dup
NM_020964.3(EPG5):c.6622-20_6622-7dup
NM_020964.3(EPG5):c.6622-22_6622-7dup
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
NM_020964.3(EPG5):c.6622-5G>A
NM_020964.3(EPG5):c.6622-6G>T rs1309916888
NM_020964.3(EPG5):c.6642A>G (p.Gln2214=)
NM_020964.3(EPG5):c.6678C>T (p.Thr2226=)
NM_020964.3(EPG5):c.6687A>G (p.Gln2229=)
NM_020964.3(EPG5):c.6717A>G (p.Glu2239=) rs766604013
NM_020964.3(EPG5):c.6723A>G (p.Glu2241=) rs2145256783
NM_020964.3(EPG5):c.672T>C (p.Ala224=)
NM_020964.3(EPG5):c.6730A>G (p.Lys2244Glu) rs560080785
NM_020964.3(EPG5):c.6735C>G (p.Leu2245=)
NM_020964.3(EPG5):c.6744T>C (p.Asp2248=)
NM_020964.3(EPG5):c.6762G>A (p.Pro2254=)
NM_020964.3(EPG5):c.6766+10C>T
NM_020964.3(EPG5):c.6766+12G>T
NM_020964.3(EPG5):c.6766+14C>T
NM_020964.3(EPG5):c.6766+16G>C
NM_020964.3(EPG5):c.6766+9C>G rs374517571
NM_020964.3(EPG5):c.6767-13A>G
NM_020964.3(EPG5):c.6767-16T>A
NM_020964.3(EPG5):c.6767-17G>C
NM_020964.3(EPG5):c.6767-19G>A
NM_020964.3(EPG5):c.6767-20T>A
NM_020964.3(EPG5):c.6768C>T (p.Asp2256=) rs780474089
NM_020964.3(EPG5):c.6774C>T (p.Asp2258=)
NM_020964.3(EPG5):c.6783C>T (p.Thr2261=)
NM_020964.3(EPG5):c.6807C>G (p.Leu2269=)
NM_020964.3(EPG5):c.6810T>C (p.Phe2270=) rs2145210565
NM_020964.3(EPG5):c.6840G>A (p.Ala2280=)
NM_020964.3(EPG5):c.6882C>G (p.Thr2294=)
NM_020964.3(EPG5):c.6894A>G (p.Gln2298=)
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=)
NM_020964.3(EPG5):c.6948G>A (p.Leu2316=)
NM_020964.3(EPG5):c.6975T>C (p.Thr2325=)
NM_020964.3(EPG5):c.6984C>A (p.Ala2328=)
NM_020964.3(EPG5):c.6990C>T (p.Ile2330=)
NM_020964.3(EPG5):c.6996C>G (p.Ala2332=)
NM_020964.3(EPG5):c.6C>A (p.Ala2=)
NM_020964.3(EPG5):c.6C>G (p.Ala2=)
NM_020964.3(EPG5):c.7009+15T>C
NM_020964.3(EPG5):c.7009+16C>T
NM_020964.3(EPG5):c.7010-10A>G
NM_020964.3(EPG5):c.7010-3del
NM_020964.3(EPG5):c.7010-9T>C
NM_020964.3(EPG5):c.7017C>T (p.Leu2339=)
NM_020964.3(EPG5):c.7056T>C (p.Leu2352=) rs2145198664
NM_020964.3(EPG5):c.7065C>G (p.Pro2355=)
NM_020964.3(EPG5):c.7065C>T (p.Pro2355=)
NM_020964.3(EPG5):c.7086C>T (p.Phe2362=) rs765931166
NM_020964.3(EPG5):c.7089G>A (p.Leu2363=)
NM_020964.3(EPG5):c.7089G>T (p.Leu2363=)
NM_020964.3(EPG5):c.7101C>T (p.Leu2367=)
NM_020964.3(EPG5):c.7110C>A (p.Gly2370=)
NM_020964.3(EPG5):c.7113T>C (p.Ser2371=) rs2145197961
NM_020964.3(EPG5):c.7128C>T (p.Tyr2376=)
NM_020964.3(EPG5):c.7149A>G (p.Leu2383=)
NM_020964.3(EPG5):c.714C>T (p.Arg238=)
NM_020964.3(EPG5):c.7158A>G (p.Glu2386=)
NM_020964.3(EPG5):c.7170G>A (p.Arg2390=)
NM_020964.3(EPG5):c.7185G>T (p.Val2395=)
NM_020964.3(EPG5):c.7191C>A (p.Leu2397=) rs766126331
NM_020964.3(EPG5):c.7191C>T (p.Leu2397=)
NM_020964.3(EPG5):c.720G>A (p.Glu240=)
NM_020964.3(EPG5):c.7224A>G (p.Pro2408=)
NM_020964.3(EPG5):c.7226+12C>T
NM_020964.3(EPG5):c.7226+14C>T
NM_020964.3(EPG5):c.7226+17G>C
NM_020964.3(EPG5):c.7226+9G>C
NM_020964.3(EPG5):c.7227-11G>A
NM_020964.3(EPG5):c.7227-12T>G
NM_020964.3(EPG5):c.7227-18del
NM_020964.3(EPG5):c.7227-9C>T
NM_020964.3(EPG5):c.7245A>G (p.Ala2415=)
NM_020964.3(EPG5):c.7257G>A (p.Leu2419=)
NM_020964.3(EPG5):c.7281C>G (p.Leu2427=)
NM_020964.3(EPG5):c.7293G>A (p.Gln2431=)
NM_020964.3(EPG5):c.729C>T (p.Tyr243=)
NM_020964.3(EPG5):c.7320A>G (p.Thr2440=)
NM_020964.3(EPG5):c.7323A>G (p.Glu2441=)
NM_020964.3(EPG5):c.7344C>G (p.Leu2448=)
NM_020964.3(EPG5):c.7350T>G (p.Val2450=)
NM_020964.3(EPG5):c.7374T>G (p.Ala2458=)
NM_020964.3(EPG5):c.7380G>A (p.Glu2460=)
NM_020964.3(EPG5):c.7383A>G (p.Arg2461=)
NM_020964.3(EPG5):c.7398C>A (p.Ile2466=)
NM_020964.3(EPG5):c.7404G>A (p.Gly2468=)
NM_020964.3(EPG5):c.7410T>A (p.Ile2470=)
NM_020964.3(EPG5):c.7422G>A (p.Arg2474=)
NM_020964.3(EPG5):c.7434G>A (p.Leu2478=)
NM_020964.3(EPG5):c.7442+10C>T
NM_020964.3(EPG5):c.7442+11G>T
NM_020964.3(EPG5):c.7442+9G>A
NM_020964.3(EPG5):c.7443-11T>C
NM_020964.3(EPG5):c.7443-17T>A
NM_020964.3(EPG5):c.7443-8T>C
NM_020964.3(EPG5):c.7443-9A>T rs2145173560
NM_020964.3(EPG5):c.7542C>T (p.Thr2514=)
NM_020964.3(EPG5):c.7557+14A>G
NM_020964.3(EPG5):c.7557+16G>A
NM_020964.3(EPG5):c.7557+19G>A
NM_020964.3(EPG5):c.7557+20G>C
NM_020964.3(EPG5):c.7557+7A>G rs760463372
NM_020964.3(EPG5):c.7558-12C>T
NM_020964.3(EPG5):c.7558-15T>C rs887421870
NM_020964.3(EPG5):c.7558-18A>G
NM_020964.3(EPG5):c.7560T>A (p.Ala2520=)
NM_020964.3(EPG5):c.7569T>C (p.Ala2523=)
NM_020964.3(EPG5):c.7617A>G (p.Gln2539=)
NM_020964.3(EPG5):c.7626A>G (p.Gln2542=)
NM_020964.3(EPG5):c.762A>G (p.Pro254=)
NM_020964.3(EPG5):c.7674A>G (p.Lys2558=) rs1555658766
NM_020964.3(EPG5):c.7680C>T (p.Phe2560=)
NM_020964.3(EPG5):c.7686T>C (p.Ala2562=)
NM_020964.3(EPG5):c.7689T>G (p.Leu2563=)
NM_020964.3(EPG5):c.7702C>T (p.Leu2568=)
NM_020964.3(EPG5):c.7704G>A (p.Leu2568=)
NM_020964.3(EPG5):c.7704G>C (p.Leu2568=)
NM_020964.3(EPG5):c.7707T>C (p.Tyr2569=)
NM_020964.3(EPG5):c.7716G>T (p.Val2572=)
NM_020964.3(EPG5):c.7725G>A (p.Leu2575=)
NM_020964.3(EPG5):c.787T>C (p.Leu263=)
NM_020964.3(EPG5):c.78T>C (p.Tyr26=)
NM_020964.3(EPG5):c.822A>G (p.Ser274=)
NM_020964.3(EPG5):c.870T>C (p.Phe290=) rs2050981551
NM_020964.3(EPG5):c.873T>C (p.Tyr291=)
NM_020964.3(EPG5):c.909A>G (p.Gln303=)
NM_020964.3(EPG5):c.912G>A (p.Leu304=)
NM_020964.3(EPG5):c.913C>T (p.Leu305=) rs2143780716
NM_020964.3(EPG5):c.930G>A (p.Glu310=)
NM_020964.3(EPG5):c.940C>T (p.Leu314=)
NM_020964.3(EPG5):c.945A>G (p.Thr315=)
NM_020964.3(EPG5):c.972G>T (p.Arg324=) rs563029581
NM_020964.3(EPG5):c.981G>A (p.Gln327=) rs2143779227

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