ClinVar Miner

List of variants studied for Vici syndrome

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ClinVar version:
Total variants: 2043
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.6621+29A>G rs3826633 0.79509
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val) rs1893523 0.25513
NM_020964.3(EPG5):c.63+18C>T rs555802868 0.25000
NM_020964.3(EPG5):c.4646+35T>C rs3826634 0.21003
NM_020964.3(EPG5):c.4089C>T (p.His1363=) rs3744996 0.20554
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu) rs59422275 0.11994
NM_020964.3(EPG5):c.7558-11G>A rs57761448 0.10601
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn) rs34064739 0.05283
NM_020964.3(EPG5):c.2532G>C (p.Glu844Asp) rs3744999 0.04674
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727 0.02107
NM_020964.3(EPG5):c.3385-20C>T rs6507647 0.02046
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln) rs34674177 0.01298
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg) rs61734402 0.01093
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00946
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=) rs114665741 0.00940
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350 0.00844
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476 0.00708
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030 0.00707
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn) rs145177562 0.00565
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val) rs61744077 0.00541
NM_020964.3(EPG5):c.7443-14C>T rs150647938 0.00509
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val) rs148777356 0.00488
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908 0.00399
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) rs9965714 0.00369
NM_020964.3(EPG5):c.18G>A (p.Lys6=) rs181345590 0.00354
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=) rs114131140 0.00323
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=) rs34545102 0.00308
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_020964.3(EPG5):c.2257+10C>T rs202068698 0.00282
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.4629G>A (p.Leu1543=) rs182255496 0.00238
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.2259C>T (p.Asp753=) rs142253896 0.00200
NM_020964.3(EPG5):c.1571+7G>A rs202014798 0.00178
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys) rs148098259 0.00166
NM_020964.3(EPG5):c.780A>G (p.Leu260=) rs186213665 0.00156
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033 0.00133
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338 0.00133
NM_020964.3(EPG5):c.6226-18T>G rs114958790 0.00119
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.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=) rs35073566 0.00088
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.5869+18C>T rs202231195 0.00077
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.4134A>G (p.Glu1378=) rs200489622 0.00062
NM_020964.3(EPG5):c.3240-16C>T rs376836914 0.00060
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe) rs200364337 0.00051
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=) rs368651243 0.00051
NM_020964.3(EPG5):c.3608G>A (p.Arg1203Gln) rs200186919 0.00050
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln) rs200151675 0.00050
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=) rs141282194 0.00048
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val) rs3744997 0.00043
NM_020964.3(EPG5):c.1029G>C (p.Val343=) rs373995336 0.00041
NM_020964.3(EPG5):c.3898G>A (p.Val1300Ile) rs201495638 0.00041
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=) rs368086133 0.00041
NM_020964.3(EPG5):c.5680A>G (p.Ile1894Val) rs138221907 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.6787C>G (p.His2263Asp) rs201639757 0.00036
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln) rs200079588 0.00035
NM_020964.3(EPG5):c.586G>A (p.Gly196Ser) rs565743896 0.00035
NM_020964.3(EPG5):c.6480G>A (p.Ser2160=) rs142224776 0.00034
NM_020964.3(EPG5):c.3984-20C>G rs143737072 0.00031
NM_020964.3(EPG5):c.5668-15A>G rs755258249 0.00031
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268 0.00030
NM_020964.3(EPG5):c.1461C>T (p.Pro487=) rs142675465 0.00029
NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp) rs78690150 0.00029
NM_020964.3(EPG5):c.4258G>A (p.Asp1420Asn) rs377196959 0.00029
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994 0.00028
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val) rs148241618 0.00028
NM_020964.3(EPG5):c.5310T>C (p.Asp1770=) rs376326191 0.00027
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile) rs369120436 0.00026
NM_020964.3(EPG5):c.1609G>A (p.Glu537Lys) rs183660877 0.00023
NM_020964.3(EPG5):c.31G>A (p.Ala11Thr) rs375661582 0.00023
NM_020964.3(EPG5):c.1944-3C>T rs376498905 0.00022
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile) rs377499566 0.00022
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly) rs372382701 0.00022
NM_020964.3(EPG5):c.4154C>G (p.Ser1385Cys) rs200040634 0.00021
NM_020964.3(EPG5):c.4522C>T (p.Pro1508Ser) rs199718702 0.00021
NM_020964.3(EPG5):c.3055A>G (p.Ile1019Val) rs373402310 0.00020
NM_020964.3(EPG5):c.6078C>A (p.Ala2026=) rs368663653 0.00020
NM_020964.3(EPG5):c.7152C>A (p.Asn2384Lys) rs201507415 0.00020
NM_020964.3(EPG5):c.4222A>G (p.Ile1408Val) rs369984684 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr) rs201213000 0.00019
NM_020964.3(EPG5):c.7009+20C>T rs367613516 0.00019
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys) rs200744548 0.00018
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.5146G>A (p.Val1716Ile) rs370311674 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.494C>T (p.Pro165Leu) rs201402291 0.00016
NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met) rs188800635 0.00016
NM_020964.3(EPG5):c.6855A>T (p.Ala2285=) rs375424781 0.00016
NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn) rs554975133 0.00015
NM_020964.3(EPG5):c.7311C>T (p.Ser2437=) rs377487870 0.00015
NM_020964.3(EPG5):c.7368C>T (p.Leu2456=) rs148229334 0.00015
NM_020964.3(EPG5):c.1254G>A (p.Ala418=) rs368735317 0.00014
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.3968C>T (p.Pro1323Leu) rs143970247 0.00014
NM_020964.3(EPG5):c.6069T>C (p.Asp2023=) rs372121696 0.00014
NM_020964.3(EPG5):c.65A>C (p.Glu22Ala) rs775124308 0.00014
NM_020964.3(EPG5):c.2100-7C>T rs191189597 0.00013
NM_020964.3(EPG5):c.6256T>G (p.Leu2086Val) rs200152090 0.00013
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142 0.00013
NM_020964.3(EPG5):c.1830G>A (p.Met610Ile) rs200214318 0.00012
NM_020964.3(EPG5):c.2718+3A>G rs374002995 0.00012
NM_020964.3(EPG5):c.3280G>A (p.Gly1094Ser) rs200966889 0.00012
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094 0.00012
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104 0.00012
NM_020964.3(EPG5):c.1009-10_1009-9dup rs148293118 0.00011
NM_020964.3(EPG5):c.2618C>T (p.Ala873Val) rs201678945 0.00011
NM_020964.3(EPG5):c.306C>T (p.Pro102=) rs368868174 0.00011
NM_020964.3(EPG5):c.424G>A (p.Glu142Lys) rs190673127 0.00011
NM_020964.3(EPG5):c.6765C>T (p.Pro2255=) rs200203116 0.00011
NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val) rs200754523 0.00011
NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg) rs137887553 0.00011
NM_020964.3(EPG5):c.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.6037G>A (p.Glu2013Lys) rs374158728 0.00010
NM_020964.3(EPG5):c.167A>G (p.Lys56Arg) rs761554872 0.00009
NM_020964.3(EPG5):c.2332A>G (p.Thr778Ala) rs201694766 0.00009
NM_020964.3(EPG5):c.2374G>A (p.Glu792Lys) rs188738484 0.00009
NM_020964.3(EPG5):c.2761T>C (p.Leu921=) rs376268597 0.00009
NM_020964.3(EPG5):c.350C>T (p.Ala117Val) rs372840001 0.00009
NM_020964.3(EPG5):c.3791C>T (p.Ala1264Val) rs374324769 0.00009
NM_020964.3(EPG5):c.393A>G (p.Lys131=) rs754739319 0.00009
NM_020964.3(EPG5):c.4206-16T>C rs377650059 0.00009
NM_020964.3(EPG5):c.4597G>A (p.Ala1533Thr) rs374899586 0.00009
NM_020964.3(EPG5):c.4766G>A (p.Ser1589Asn) rs201062477 0.00009
NM_020964.3(EPG5):c.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.6292G>T (p.Val2098Phe) rs377726262 0.00009
NM_020964.3(EPG5):c.1119G>T (p.Glu373Asp) rs371484691 0.00008
NM_020964.3(EPG5):c.1252+5G>C rs375372125 0.00008
NM_020964.3(EPG5):c.3567C>T (p.Leu1189=) rs757349087 0.00008
NM_020964.3(EPG5):c.407A>G (p.Lys136Arg) rs199571302 0.00008
NM_020964.3(EPG5):c.4517C>T (p.Pro1506Leu) rs751816092 0.00008
NM_020964.3(EPG5):c.1395C>T (p.Ser465=) rs374133150 0.00007
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194 0.00007
NM_020964.3(EPG5):c.4747C>T (p.His1583Tyr) rs535029628 0.00007
NM_020964.3(EPG5):c.1081C>T (p.Leu361=) rs777877311 0.00006
NM_020964.3(EPG5):c.1293A>G (p.Gln431=) rs753444846 0.00006
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln) rs142601828 0.00006
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113 0.00006
NM_020964.3(EPG5):c.1948A>G (p.Thr650Ala) rs371884344 0.00006
NM_020964.3(EPG5):c.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.3002C>T (p.Thr1001Ile) rs369506924 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.4034A>G (p.His1345Arg) rs200456950 0.00006
NM_020964.3(EPG5):c.4360C>T (p.Arg1454Cys) rs550924483 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.5210A>G (p.Asn1737Ser) rs201509640 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.6512A>G (p.His2171Arg) rs369070714 0.00006
NM_020964.3(EPG5):c.6766+9C>A rs374517571 0.00006
NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn) rs200967600 0.00006
NM_020964.3(EPG5):c.1009G>A (p.Gly337Ser) rs1195446026 0.00005
NM_020964.3(EPG5):c.1043A>G (p.Tyr348Cys) rs761594653 0.00005
NM_020964.3(EPG5):c.1857A>T (p.Ser619=) rs543352996 0.00005
NM_020964.3(EPG5):c.1894A>G (p.Asn632Asp) rs765831533 0.00005
NM_020964.3(EPG5):c.2079A>G (p.Leu693=) rs769308318 0.00005
NM_020964.3(EPG5):c.2233G>A (p.Ala745Thr) rs564487069 0.00005
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00005
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_020964.3(EPG5):c.2812G>A (p.Gly938Arg) rs773907627 0.00005
NM_020964.3(EPG5):c.3093C>T (p.Gly1031=) rs757078802 0.00005
NM_020964.3(EPG5):c.3286C>T (p.Pro1096Ser) rs199524137 0.00005
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His) rs201545867 0.00005
NM_020964.3(EPG5):c.4861C>T (p.Arg1621Trp) rs566219944 0.00005
NM_020964.3(EPG5):c.4989T>G (p.Pro1663=) rs759914920 0.00005
NM_020964.3(EPG5):c.5525C>T (p.Ala1842Val) rs367619633 0.00005
NM_020964.3(EPG5):c.5945G>A (p.Ser1982Asn) rs377447365 0.00005
NM_020964.3(EPG5):c.6044T>C (p.Phe2015Ser) rs756154171 0.00005
NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly) rs764464544 0.00005
NM_020964.3(EPG5):c.6225+17C>T rs568802919 0.00005
NM_020964.3(EPG5):c.6526A>G (p.Ile2176Val) rs201095962 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.1396G>A (p.Val466Met) rs370669049 0.00004
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619 0.00004
NM_020964.3(EPG5):c.1579G>A (p.Ala527Thr) rs769029039 0.00004
NM_020964.3(EPG5):c.1869T>C (p.Leu623=) rs751209508 0.00004
NM_020964.3(EPG5):c.2176C>T (p.Leu726Phe) rs779316506 0.00004
NM_020964.3(EPG5):c.2187G>C (p.Gln729His) rs575623740 0.00004
NM_020964.3(EPG5):c.2232C>T (p.Pro744=) rs373389232 0.00004
NM_020964.3(EPG5):c.2350C>G (p.Gln784Glu) rs764959017 0.00004
NM_020964.3(EPG5):c.2583T>C (p.Pro861=) rs781036678 0.00004
NM_020964.3(EPG5):c.2702G>T (p.Trp901Leu) rs201315023 0.00004
NM_020964.3(EPG5):c.3047G>A (p.Gly1016Asp) rs946420837 0.00004
NM_020964.3(EPG5):c.328A>G (p.Arg110Gly) rs761327582 0.00004
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg) rs375017695 0.00004
NM_020964.3(EPG5):c.4265A>G (p.Tyr1422Cys) rs1020010664 0.00004
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met) rs746749336 0.00004
NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu) rs375867560 0.00004
NM_020964.3(EPG5):c.484T>C (p.Tyr162His) rs371755239 0.00004
NM_020964.3(EPG5):c.5023A>G (p.Thr1675Ala) rs200776693 0.00004
NM_020964.3(EPG5):c.5037C>T (p.Tyr1679=) rs374671966 0.00004
NM_020964.3(EPG5):c.5057G>A (p.Arg1686His) rs375463159 0.00004
NM_020964.3(EPG5):c.5305-11T>C rs756036509 0.00004
NM_020964.3(EPG5):c.5383G>T (p.Ala1795Ser) rs369731452 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.5735A>C (p.Lys1912Thr) rs754227425 0.00004
NM_020964.3(EPG5):c.5785A>G (p.Thr1929Ala) rs968834469 0.00004
NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile) rs777008903 0.00004
NM_020964.3(EPG5):c.6049+4G>A rs200936655 0.00004
NM_020964.3(EPG5):c.6148G>A (p.Ala2050Thr) rs746878988 0.00004
NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys) rs775329245 0.00004
NM_020964.3(EPG5):c.6366C>T (p.Phe2122=) rs374063690 0.00004
NM_020964.3(EPG5):c.6519G>A (p.Pro2173=) rs762400421 0.00004
NM_020964.3(EPG5):c.6521C>T (p.Pro2174Leu) rs775158816 0.00004
NM_020964.3(EPG5):c.6621+13G>A rs781195592 0.00004
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu) rs776541656 0.00004
NM_020964.3(EPG5):c.6769A>G (p.Met2257Val) rs201722679 0.00004
NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile) rs768330083 0.00004
NM_020964.3(EPG5):c.6837C>T (p.Asn2279=) rs377043340 0.00004
NM_020964.3(EPG5):c.6838G>A (p.Ala2280Thr) rs373340664 0.00004
NM_020964.3(EPG5):c.6877C>T (p.Arg2293Trp) rs180886291 0.00004
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=) rs774873040 0.00004
NM_020964.3(EPG5):c.6951G>A (p.Ala2317=) rs369725381 0.00004
NM_020964.3(EPG5):c.7018A>C (p.Asn2340His) rs200080895 0.00004
NM_020964.3(EPG5):c.7082A>C (p.Glu2361Ala) rs374750937 0.00004
NM_020964.3(EPG5):c.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.968G>T (p.Ser323Ile) rs199732702 0.00004
NM_020964.3(EPG5):c.1250G>A (p.Arg417Gln) rs369094716 0.00003
NM_020964.3(EPG5):c.150T>G (p.Ser50=) rs368060363 0.00003
NM_020964.3(EPG5):c.1511A>C (p.His504Pro) rs754120095 0.00003
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998 0.00003
NM_020964.3(EPG5):c.1811C>G (p.Thr604Arg) rs373011809 0.00003
NM_020964.3(EPG5):c.1903C>T (p.Arg635Cys) rs764895705 0.00003
NM_020964.3(EPG5):c.2424C>T (p.Val808=) rs376583998 0.00003
NM_020964.3(EPG5):c.2571T>C (p.Phe857=) rs746667054 0.00003
NM_020964.3(EPG5):c.2662A>G (p.Lys888Glu) rs769833086 0.00003
NM_020964.3(EPG5):c.2710G>A (p.Ala904Thr) rs754355395 0.00003
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter) rs756503608 0.00003
NM_020964.3(EPG5):c.2940C>T (p.Asn980=) rs753235376 0.00003
NM_020964.3(EPG5):c.3020A>T (p.His1007Leu) rs377551412 0.00003
NM_020964.3(EPG5):c.3034G>A (p.Ala1012Thr) rs773390222 0.00003
NM_020964.3(EPG5):c.338T>G (p.Val113Gly) rs772420839 0.00003
NM_020964.3(EPG5):c.4205+7A>T rs376652885 0.00003
NM_020964.3(EPG5):c.4205+9G>A rs769965368 0.00003
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys) rs749547713 0.00003
NM_020964.3(EPG5):c.5110G>A (p.Val1704Ile) rs982203129 0.00003
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp) rs750664406 0.00003
NM_020964.3(EPG5):c.6167G>A (p.Arg2056Gln) rs753386481 0.00003
NM_020964.3(EPG5):c.6568C>T (p.Leu2190Phe) rs1280775043 0.00003
NM_020964.3(EPG5):c.6785G>A (p.Arg2262His) rs375960377 0.00003
NM_020964.3(EPG5):c.6826A>T (p.Met2276Leu) rs748788401 0.00003
NM_020964.3(EPG5):c.688T>G (p.Leu230Val) rs774387511 0.00003
NM_020964.3(EPG5):c.7287C>T (p.Leu2429=) rs771719040 0.00003
NM_020964.3(EPG5):c.7511G>A (p.Arg2504His) rs979554550 0.00003
NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile) rs777854920 0.00003
NM_020964.3(EPG5):c.974T>G (p.Leu325Arg) rs1181548699 0.00003
NM_020964.3(EPG5):c.995A>G (p.Gln332Arg) rs374633337 0.00003
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_020964.3(EPG5):c.1045C>T (p.His349Tyr) rs773880955 0.00002
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00002
NM_020964.3(EPG5):c.1542A>G (p.Gln514=) rs375859542 0.00002
NM_020964.3(EPG5):c.1612C>T (p.Arg538Trp) rs372785168 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.1782T>G (p.Phe594Leu) rs888785002 0.00002
NM_020964.3(EPG5):c.1814C>T (p.Thr605Ile) rs371526822 0.00002
NM_020964.3(EPG5):c.1845C>T (p.Ala615=) rs779948865 0.00002
NM_020964.3(EPG5):c.1943+4A>G rs368879665 0.00002
NM_020964.3(EPG5):c.2181G>A (p.Met727Ile) rs370714624 0.00002
NM_020964.3(EPG5):c.2257+11G>A rs375688315 0.00002
NM_020964.3(EPG5):c.290C>T (p.Thr97Met) rs371113007 0.00002
NM_020964.3(EPG5):c.29_34dup (p.Arg10_Ala11dup) rs2051286087 0.00002
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met) rs890699630 0.00002
NM_020964.3(EPG5):c.3175C>T (p.His1059Tyr) rs200633997 0.00002
NM_020964.3(EPG5):c.320G>A (p.Gly107Glu) rs766983961 0.00002
NM_020964.3(EPG5):c.3307G>T (p.Val1103Phe) rs1037521116 0.00002
NM_020964.3(EPG5):c.3351G>A (p.Gly1117=) rs371129822 0.00002
NM_020964.3(EPG5):c.3422G>A (p.Gly1141Asp) rs776414813 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.3683C>T (p.Thr1228Met) rs556565796 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.3878G>A (p.Arg1293His) rs781740724 0.00002
NM_020964.3(EPG5):c.3942G>A (p.Lys1314=) rs571017810 0.00002
NM_020964.3(EPG5):c.3964C>T (p.Arg1322Cys) rs201983775 0.00002
NM_020964.3(EPG5):c.404C>G (p.Pro135Arg) rs773717848 0.00002
NM_020964.3(EPG5):c.4205+11T>C rs748084699 0.00002
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys) rs761064074 0.00002
NM_020964.3(EPG5):c.4474+15C>T rs754410371 0.00002
NM_020964.3(EPG5):c.4521G>C (p.Gln1507His) rs758611855 0.00002
NM_020964.3(EPG5):c.4687G>T (p.Gly1563Cys) rs751554863 0.00002
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser) rs370120497 0.00002
NM_020964.3(EPG5):c.4803G>A (p.Thr1601=) rs758455820 0.00002
NM_020964.3(EPG5):c.4966G>T (p.Ala1656Ser) rs756852013 0.00002
NM_020964.3(EPG5):c.5109+6G>T rs767652682 0.00002
NM_020964.3(EPG5):c.5213C>T (p.Ala1738Val) rs768237272 0.00002
NM_020964.3(EPG5):c.5307C>T (p.Phe1769=) rs369940983 0.00002
NM_020964.3(EPG5):c.5432T>G (p.Phe1811Cys) rs759019063 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.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_020964.3(EPG5):c.63+7A>C rs372285234 0.00002
NM_020964.3(EPG5):c.6518C>T (p.Pro2173Leu) rs1476353006 0.00002
NM_020964.3(EPG5):c.6623A>G (p.Asp2208Gly) rs1177226409 0.00002
NM_020964.3(EPG5):c.6632C>T (p.Pro2211Leu) rs769830823 0.00002
NM_020964.3(EPG5):c.674G>C (p.Gly225Ala) rs200910594 0.00002
NM_020964.3(EPG5):c.7442+11G>A rs368361879 0.00002
NM_020964.3(EPG5):c.7692C>T (p.Leu2564=) rs747189808 0.00002
NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly) rs1171989598 0.00002
NM_020964.3(EPG5):c.970C>T (p.Arg324Trp) rs779260764 0.00002
NM_020964.3(EPG5):c.1008+16G>A rs938976280 0.00001
NM_020964.3(EPG5):c.103A>G (p.Ser35Gly) rs746311646 0.00001
NM_020964.3(EPG5):c.1189A>G (p.Ile397Val) rs968213343 0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.1254del (p.Ser419fs) rs2050902019 0.00001
NM_020964.3(EPG5):c.1312G>A (p.Val438Ile) rs750946464 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679 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.1678-1G>A rs755928939 0.00001
NM_020964.3(EPG5):c.1688C>T (p.Pro563Leu) rs1026189696 0.00001
NM_020964.3(EPG5):c.1694C>T (p.Thr565Ile) rs750054758 0.00001
NM_020964.3(EPG5):c.1713T>A (p.Asn571Lys) rs1364153002 0.00001
NM_020964.3(EPG5):c.1749C>T (p.Pro583=) rs746257883 0.00001
NM_020964.3(EPG5):c.1873G>T (p.Ala625Ser) rs757958571 0.00001
NM_020964.3(EPG5):c.1904G>A (p.Arg635His) rs761134702 0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val) rs745736928 0.00001
NM_020964.3(EPG5):c.1937T>C (p.Met646Thr) rs776655554 0.00001
NM_020964.3(EPG5):c.1940T>G (p.Ile647Ser) rs770599313 0.00001
NM_020964.3(EPG5):c.1943+18C>T rs1326536792 0.00001
NM_020964.3(EPG5):c.1949C>T (p.Thr650Ile) rs1342520686 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.1A>G (p.Met1Val) rs1135402732 0.00001
NM_020964.3(EPG5):c.2082T>A (p.His694Gln) rs929769017 0.00001
NM_020964.3(EPG5):c.2107A>G (p.Ile703Val) rs769257326 0.00001
NM_020964.3(EPG5):c.2124C>T (p.Ser708=) rs571198688 0.00001
NM_020964.3(EPG5):c.2127G>T (p.Glu709Asp) rs950420567 0.00001
NM_020964.3(EPG5):c.2188G>C (p.Val730Leu) rs376495076 0.00001
NM_020964.3(EPG5):c.2193G>C (p.Glu731Asp) rs1218574370 0.00001
NM_020964.3(EPG5):c.2261C>G (p.Pro754Arg) rs1163010781 0.00001
NM_020964.3(EPG5):c.2274C>T (p.Thr758=) rs1280940380 0.00001
NM_020964.3(EPG5):c.2348C>T (p.Ala783Val) rs1330678250 0.00001
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342 0.00001
NM_020964.3(EPG5):c.2407T>C (p.Tyr803His) rs762353654 0.00001
NM_020964.3(EPG5):c.2420A>C (p.Tyr807Ser) rs1436830345 0.00001
NM_020964.3(EPG5):c.2443A>T (p.Thr815Ser) rs944929737 0.00001
NM_020964.3(EPG5):c.2450C>A (p.Ser817Ter) rs908790331 0.00001
NM_020964.3(EPG5):c.2461C>T (p.Arg821Ter) rs759625169 0.00001
NM_020964.3(EPG5):c.246T>C (p.Asp82=) rs1044415346 0.00001
NM_020964.3(EPG5):c.2494C>G (p.Pro832Ala) rs779658335 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.2509G>A (p.Val837Ile) rs374638575 0.00001
NM_020964.3(EPG5):c.2522G>C (p.Arg841Thr) rs934919689 0.00001
NM_020964.3(EPG5):c.2553+18G>A rs776694155 0.00001
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser) rs368321414 0.00001
NM_020964.3(EPG5):c.2626C>T (p.Arg876Trp) rs755283620 0.00001
NM_020964.3(EPG5):c.2679T>C (p.Cys893=) rs1218990203 0.00001
NM_020964.3(EPG5):c.270A>G (p.Ile90Met) rs374098492 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.2776G>A (p.Ala926Thr) rs371695724 0.00001
NM_020964.3(EPG5):c.2845T>C (p.Tyr949His) rs750349437 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_020964.3(EPG5):c.2868T>C (p.Tyr956=) rs762448921 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.2954A>G (p.Gln985Arg) rs1212093839 0.00001
NM_020964.3(EPG5):c.2956C>G (p.Pro986Ala) rs755139046 0.00001
NM_020964.3(EPG5):c.2957C>T (p.Pro986Leu) rs1301596513 0.00001
NM_020964.3(EPG5):c.2960A>G (p.Asn987Ser) rs1253995415 0.00001
NM_020964.3(EPG5):c.3044C>T (p.Ala1015Val) rs1135402736 0.00001
NM_020964.3(EPG5):c.3045G>A (p.Ala1015=) rs772585558 0.00001
NM_020964.3(EPG5):c.3048C>T (p.Gly1016=) rs554642077 0.00001
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile) rs144908324 0.00001
NM_020964.3(EPG5):c.3176A>G (p.His1059Arg) rs936848208 0.00001
NM_020964.3(EPG5):c.3220T>C (p.Tyr1074His) rs369286199 0.00001
NM_020964.3(EPG5):c.3258C>T (p.Leu1086=) rs1482148787 0.00001
NM_020964.3(EPG5):c.3384+17C>T rs1308204102 0.00001
NM_020964.3(EPG5):c.3384+3G>A rs1235955647 0.00001
NM_020964.3(EPG5):c.3397G>C (p.Val1133Leu) rs1196176370 0.00001
NM_020964.3(EPG5):c.3410C>T (p.Pro1137Leu) rs2050027099 0.00001
NM_020964.3(EPG5):c.3426C>T (p.Pro1142=) rs777286012 0.00001
NM_020964.3(EPG5):c.3427G>A (p.Val1143Ile) rs771510931 0.00001
NM_020964.3(EPG5):c.3487C>A (p.Gln1163Lys) rs759405296 0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352 0.00001
NM_020964.3(EPG5):c.3582+12G>C rs554695413 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.3598C>T (p.His1200Tyr) rs758515302 0.00001
NM_020964.3(EPG5):c.3632G>A (p.Ser1211Asn) rs571987859 0.00001
NM_020964.3(EPG5):c.3652A>G (p.Ile1218Val) rs546759895 0.00001
NM_020964.3(EPG5):c.3686C>A (p.Pro1229His) rs778094374 0.00001
NM_020964.3(EPG5):c.3689C>T (p.Thr1230Ile) rs772294581 0.00001
NM_020964.3(EPG5):c.369C>T (p.His123=) rs756190726 0.00001
NM_020964.3(EPG5):c.3755G>A (p.Arg1252Gln) rs186446511 0.00001
NM_020964.3(EPG5):c.375A>G (p.Gly125=) rs1444139900 0.00001
NM_020964.3(EPG5):c.3767A>G (p.Glu1256Gly) rs766928627 0.00001
NM_020964.3(EPG5):c.3807A>G (p.Gln1269=) rs897520700 0.00001
NM_020964.3(EPG5):c.380A>G (p.Asn127Ser) rs1027702347 0.00001
NM_020964.3(EPG5):c.3847G>A (p.Val1283Met) rs377030279 0.00001
NM_020964.3(EPG5):c.3854C>T (p.Ser1285Phe) rs779751217 0.00001
NM_020964.3(EPG5):c.3969G>A (p.Pro1323=) rs373218143 0.00001
NM_020964.3(EPG5):c.3984-10G>T rs1382561435 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_020964.3(EPG5):c.4023A>G (p.Gln1341=) rs372736170 0.00001
NM_020964.3(EPG5):c.4040A>G (p.Asn1347Ser) rs371508723 0.00001
NM_020964.3(EPG5):c.4062A>G (p.Arg1354=) rs756098385 0.00001
NM_020964.3(EPG5):c.4094C>G (p.Ala1365Gly) rs2049870260 0.00001
NM_020964.3(EPG5):c.4111C>T (p.Arg1371Cys) rs368438786 0.00001
NM_020964.3(EPG5):c.4155T>C (p.Ser1385=) rs571870345 0.00001
NM_020964.3(EPG5):c.4163C>T (p.Pro1388Leu) rs543543733 0.00001
NM_020964.3(EPG5):c.4206-15G>A rs1283815764 0.00001
NM_020964.3(EPG5):c.430A>G (p.Asn144Asp) rs775702849 0.00001
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter) rs374321183 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.4496A>C (p.Asn1499Thr) rs748874666 0.00001
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met) rs201986809 0.00001
NM_020964.3(EPG5):c.450A>G (p.Gly150=) rs777737049 0.00001
NM_020964.3(EPG5):c.4549C>T (p.Pro1517Ser) rs369136227 0.00001
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe) rs199978382 0.00001
NM_020964.3(EPG5):c.4596C>T (p.Asp1532=) rs201777260 0.00001
NM_020964.3(EPG5):c.460A>G (p.Ser154Gly) rs758319070 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.4654G>A (p.Ala1552Thr) rs372801548 0.00001
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys) rs780030419 0.00001
NM_020964.3(EPG5):c.4677T>A (p.Val1559=) rs756211681 0.00001
NM_020964.3(EPG5):c.4679C>A (p.Ala1560Asp) rs1227873728 0.00001
NM_020964.3(EPG5):c.4705A>G (p.Met1569Val) rs568568831 0.00001
NM_020964.3(EPG5):c.4726C>T (p.Arg1576Cys) rs1261427390 0.00001
NM_020964.3(EPG5):c.4738A>G (p.Thr1580Ala) rs553484474 0.00001
NM_020964.3(EPG5):c.4916T>A (p.Ile1639Asn) rs375030392 0.00001
NM_020964.3(EPG5):c.4968C>G (p.Ala1656=) rs371896302 0.00001
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu) rs375606930 0.00001
NM_020964.3(EPG5):c.5028T>C (p.Ile1676=) rs1346661334 0.00001
NM_020964.3(EPG5):c.5087C>T (p.Ser1696Leu) rs766622192 0.00001
NM_020964.3(EPG5):c.5273A>G (p.Asn1758Ser) rs143519809 0.00001
NM_020964.3(EPG5):c.533G>A (p.Ser178Asn) rs1202088395 0.00001
NM_020964.3(EPG5):c.5359A>G (p.Arg1787Gly) rs750395264 0.00001
NM_020964.3(EPG5):c.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.5545G>A (p.Glu1849Lys) rs777698208 0.00001
NM_020964.3(EPG5):c.5560A>T (p.Thr1854Ser) rs758263741 0.00001
NM_020964.3(EPG5):c.5603G>A (p.Gly1868Glu) rs751998000 0.00001
NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs) rs759930622 0.00001
NM_020964.3(EPG5):c.5674G>C (p.Glu1892Gln) rs773270236 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.5762G>A (p.Ser1921Asn) rs977677513 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_020964.3(EPG5):c.5872C>T (p.Leu1958=) rs374326658 0.00001
NM_020964.3(EPG5):c.5953C>T (p.Arg1985Trp) rs146306069 0.00001
NM_020964.3(EPG5):c.6112T>G (p.Cys2038Gly) rs375057925 0.00001
NM_020964.3(EPG5):c.6116C>T (p.Thr2039Ile) rs768999379 0.00001
NM_020964.3(EPG5):c.611A>G (p.Lys204Arg) rs749123170 0.00001
NM_020964.3(EPG5):c.6235G>A (p.Gly2079Arg) rs191824898 0.00001
NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu) rs769470632 0.00001
NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly) rs201980410 0.00001
NM_020964.3(EPG5):c.641A>G (p.Lys214Arg) rs571324055 0.00001
NM_020964.3(EPG5):c.6501T>C (p.Tyr2167=) rs200002882 0.00001
NM_020964.3(EPG5):c.6535G>A (p.Ala2179Thr) rs1245545639 0.00001
NM_020964.3(EPG5):c.654G>T (p.Gln218His) rs753111853 0.00001
NM_020964.3(EPG5):c.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.6743A>G (p.Asp2248Gly) rs1440725586 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.676G>A (p.Glu226Lys) rs776920434 0.00001
NM_020964.3(EPG5):c.6784C>T (p.Arg2262Cys) rs973783719 0.00001
NM_020964.3(EPG5):c.6816A>T (p.Glu2272Asp) rs766271900 0.00001
NM_020964.3(EPG5):c.6844A>G (p.Ile2282Val) rs781691565 0.00001
NM_020964.3(EPG5):c.6851C>G (p.Thr2284Arg) rs777908648 0.00001
NM_020964.3(EPG5):c.6887T>C (p.Ile2296Thr) rs921995592 0.00001
NM_020964.3(EPG5):c.6927A>G (p.Leu2309=) rs762613930 0.00001
NM_020964.3(EPG5):c.6954C>T (p.Ser2318=) rs188505096 0.00001
NM_020964.3(EPG5):c.6955G>A (p.Val2319Ile) rs199635841 0.00001
NM_020964.3(EPG5):c.6964A>G (p.Met2322Val) rs1257071280 0.00001
NM_020964.3(EPG5):c.6996C>T (p.Ala2332=) rs149296561 0.00001
NM_020964.3(EPG5):c.7028C>T (p.Ser2343Leu) rs1283916552 0.00001
NM_020964.3(EPG5):c.7053C>T (p.Ser2351=) rs2048569469 0.00001
NM_020964.3(EPG5):c.7057C>T (p.Gln2353Ter) rs763931697 0.00001
NM_020964.3(EPG5):c.7129G>A (p.Val2377Ile) rs748584845 0.00001
NM_020964.3(EPG5):c.712C>T (p.Arg238Cys) rs745445439 0.00001
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu) rs370270531 0.00001
NM_020964.3(EPG5):c.7170G>T (p.Arg2390Ser) rs1344860554 0.00001
NM_020964.3(EPG5):c.7174G>A (p.Glu2392Lys) rs1399290496 0.00001
NM_020964.3(EPG5):c.7199G>A (p.Ser2400Asn) rs1030476117 0.00001
NM_020964.3(EPG5):c.7212A>G (p.Glu2404=) rs1422066007 0.00001
NM_020964.3(EPG5):c.7217T>G (p.Val2406Gly) rs1489617016 0.00001
NM_020964.3(EPG5):c.7221C>T (p.Tyr2407=) rs1477755722 0.00001
NM_020964.3(EPG5):c.7226+6T>C rs775743724 0.00001
NM_020964.3(EPG5):c.7245A>C (p.Ala2415=) rs1245397728 0.00001
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg) rs777351158 0.00001
NM_020964.3(EPG5):c.7302G>A (p.Gln2434=) rs140297677 0.00001
NM_020964.3(EPG5):c.7312G>A (p.Val2438Ile) rs868233133 0.00001
NM_020964.3(EPG5):c.732A>G (p.Pro244=) rs994903742 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 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.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu) rs370315826 0.00001
NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe) rs1447140985 0.00001
NM_020964.3(EPG5):c.752A>T (p.Glu251Val) rs764715323 0.00001
NM_020964.3(EPG5):c.7558-8T>C rs759398169 0.00001
NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala) rs772963749 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.844A>G (p.Met282Val) rs1358436668 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NC_000018.9:g.(?_42281312)_(45423127_?)dup
NC_000018.9:g.(?_43432412)_(43547225_?)dup
NC_000018.9:g.(?_43432432)_(43462472_?)del
NC_000018.9:g.(?_43432432)_(43535324_?)del
NC_000018.9:g.(?_43437798)_(43469925_?)dup
NC_000018.9:g.(?_43456181)_(43456327_?)del
NC_000018.9:g.(?_43464697)_(43468959_?)del
NC_000018.9:g.(?_43467696)_(43467892_?)del
NC_000018.9:g.(?_43490466)_(43496567_?)dup
NC_000018.9:g.(?_43495456)_(43497804_?)del
NC_000018.9:g.(?_43502287)_(43503373_?)del
NC_000018.9:g.(?_43502287)_(43505888_?)del
NC_000018.9:g.(?_43503214)_(43505888_?)del
NC_000018.9:g.(?_43519546)_(43535324_?)del
NC_000018.9:g.(?_43523107)_(43524105_?)dup
NC_000018.9:g.(?_43547123)_(43547205_?)del
NC_000018.9:g.43547114_43604673del
NM_020964.2(EPG5):c.[1188delC;2598A>G]
NM_020964.2(EPG5):c.[1A>G;4108delC]
NM_020964.2(EPG5):c.[2461C>T;3582G>A]
NM_020964.2(EPG5):c.[2T>C;5792delT]
NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]
NM_020964.2(EPG5):c.[3152C>G;4230G>A]
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.1017_1018del (p.Ala340fs) rs2050937885
NM_020964.3(EPG5):c.1029G>A (p.Val343=)
NM_020964.3(EPG5):c.102del (p.Ser35fs)
NM_020964.3(EPG5):c.1049G>T (p.Arg350Leu)
NM_020964.3(EPG5):c.1053C>T (p.Tyr351=)
NM_020964.3(EPG5):c.1056A>G (p.Gln352=)
NM_020964.3(EPG5):c.1057A>G (p.Arg353Gly)
NM_020964.3(EPG5):c.1059A>G (p.Arg353=) rs1599644906
NM_020964.3(EPG5):c.1070A>G (p.Asn357Ser)
NM_020964.3(EPG5):c.1080A>C (p.Ala360=)
NM_020964.3(EPG5):c.1098G>A (p.Lys366=)
NM_020964.3(EPG5):c.1098G>C (p.Lys366Asn)
NM_020964.3(EPG5):c.1110C>T (p.Ala370=)
NM_020964.3(EPG5):c.1112A>G (p.Lys371Arg) rs2143748127
NM_020964.3(EPG5):c.1113A>G (p.Lys371=) rs747186002
NM_020964.3(EPG5):c.1126C>T (p.His376Tyr) rs2143747766
NM_020964.3(EPG5):c.1131_1132insGGCCAG (p.Gln377_Thr378insGlyGln) rs2143747690
NM_020964.3(EPG5):c.1135C>T (p.Leu379=) rs979490125
NM_020964.3(EPG5):c.1148C>G (p.Ser383Cys) rs1431365834
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.1166C>G (p.Ser389Ter)
NM_020964.3(EPG5):c.1169G>C (p.Arg390Thr) rs2143746816
NM_020964.3(EPG5):c.1182G>T (p.Glu394Asp)
NM_020964.3(EPG5):c.1188C>T (p.Tyr396=) rs773448279
NM_020964.3(EPG5):c.1203C>T (p.Leu401=)
NM_020964.3(EPG5):c.1204A>G (p.Ser402Gly)
NM_020964.3(EPG5):c.1212A>C (p.Ser404=) rs2143745666
NM_020964.3(EPG5):c.1237C>G (p.His413Asp)
NM_020964.3(EPG5):c.1237C>T (p.His413Tyr) rs2050930158
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.1252+1G>A
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.1253-15A>G
NM_020964.3(EPG5):c.1253-1G>A rs1470797555
NM_020964.3(EPG5):c.1254G>T (p.Ala418=)
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu) rs2143723704
NM_020964.3(EPG5):c.1261_1263del (p.Gln421del)
NM_020964.3(EPG5):c.126C>G (p.Thr42=)
NM_020964.3(EPG5):c.1270A>G (p.Ser424Gly)
NM_020964.3(EPG5):c.1272C>T (p.Ser424=)
NM_020964.3(EPG5):c.12G>C (p.Ala4=)
NM_020964.3(EPG5):c.12G>T (p.Ala4=)
NM_020964.3(EPG5):c.1308T>C (p.Ile436=)
NM_020964.3(EPG5):c.1311T>C (p.Ser437=)
NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu) rs200123131
NM_020964.3(EPG5):c.1338T>G (p.Val446=)
NM_020964.3(EPG5):c.1341T>C (p.Asn447=)
NM_020964.3(EPG5):c.1346A>T (p.Asp449Val) rs2143722158
NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)
NM_020964.3(EPG5):c.1356T>G (p.Phe452Leu)
NM_020964.3(EPG5):c.1358A>T (p.His453Leu)
NM_020964.3(EPG5):c.135G>A (p.Glu45=)
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp) rs370173694
NM_020964.3(EPG5):c.1362T>C (p.Asp454=)
NM_020964.3(EPG5):c.1371T>C (p.Leu457=)
NM_020964.3(EPG5):c.1389+12G>A
NM_020964.3(EPG5):c.1389+12G>C
NM_020964.3(EPG5):c.1389+18G>T
NM_020964.3(EPG5):c.1389+2T>G
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.1391T>C (p.Val464Ala) rs572513821
NM_020964.3(EPG5):c.1392A>G (p.Val464=)
NM_020964.3(EPG5):c.1401A>G (p.Leu467=) rs1176818060
NM_020964.3(EPG5):c.1405dup (p.Arg469fs)
NM_020964.3(EPG5):c.1415G>C (p.Cys472Ser)
NM_020964.3(EPG5):c.1428C>T (p.His476=) rs2143695152
NM_020964.3(EPG5):c.1434C>T (p.Phe478=)
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer) rs762639913
NM_020964.3(EPG5):c.1443C>G (p.Asn481Lys)
NM_020964.3(EPG5):c.1443C>T (p.Asn481=)
NM_020964.3(EPG5):c.1462G>A (p.Ala488Thr)
NM_020964.3(EPG5):c.1497+10del
NM_020964.3(EPG5):c.1497+16A>C
NM_020964.3(EPG5):c.1497+1G>T rs886043244
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.1498-17del rs2050838482
NM_020964.3(EPG5):c.1499T>G (p.Ile500Ser)
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
NM_020964.3(EPG5):c.1504G>A (p.Val502Met)
NM_020964.3(EPG5):c.150T>C (p.Ser50=)
NM_020964.3(EPG5):c.1521del (p.Val509fs)
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.1539G>A (p.Met513Ile) rs369120436
NM_020964.3(EPG5):c.1540C>A (p.Gln514Lys)
NM_020964.3(EPG5):c.1544C>A (p.Ser515Tyr) rs746558016
NM_020964.3(EPG5):c.1545C>G (p.Ser515=)
NM_020964.3(EPG5):c.1551C>G (p.Ala517=)
NM_020964.3(EPG5):c.1562C>G (p.Ser521Cys)
NM_020964.3(EPG5):c.1564C>G (p.Pro522Ala) rs748453305
NM_020964.3(EPG5):c.1571+10C>T
NM_020964.3(EPG5):c.1571+20G>A rs2145941626
NM_020964.3(EPG5):c.1571+3A>G
NM_020964.3(EPG5):c.1572-12C>T
NM_020964.3(EPG5):c.1572-4T>G
NM_020964.3(EPG5):c.1590G>A (p.Met530Ile)
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.1625C>G (p.Ser542Cys)
NM_020964.3(EPG5):c.1625C>T (p.Ser542Phe) rs754742313
NM_020964.3(EPG5):c.1626C>A (p.Ser542=) rs904283996
NM_020964.3(EPG5):c.1626C>T (p.Ser542=)
NM_020964.3(EPG5):c.1629_1630del (p.Gly544fs)
NM_020964.3(EPG5):c.1632G>A (p.Gly544=)
NM_020964.3(EPG5):c.1638G>A (p.Gly546=)
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_020964.3(EPG5):c.1641T>G (p.Ser547=) rs2145928339
NM_020964.3(EPG5):c.164T>G (p.Phe55Cys) rs2143794640
NM_020964.3(EPG5):c.1652C>T (p.Thr551Met)
NM_020964.3(EPG5):c.1662C>T (p.Asp554=)
NM_020964.3(EPG5):c.1664A>T (p.Glu555Val) rs2050789196
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.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.1694C>G (p.Thr565Ser)
NM_020964.3(EPG5):c.1702A>C (p.Ile568Leu) rs1302366422
NM_020964.3(EPG5):c.1707C>A (p.Leu569=)
NM_020964.3(EPG5):c.1708C>G (p.Leu570Val)
NM_020964.3(EPG5):c.1713T>C (p.Asn571=)
NM_020964.3(EPG5):c.1719T>C (p.Asp573=)
NM_020964.3(EPG5):c.1777_1781del (p.Leu592_Gly593insTer)
NM_020964.3(EPG5):c.177T>C (p.His59=)
NM_020964.3(EPG5):c.1783A>G (p.Lys595Glu) rs1483709735
NM_020964.3(EPG5):c.1792+14T>C
NM_020964.3(EPG5):c.1792+15C>T
NM_020964.3(EPG5):c.1792+6C>T rs2145912247
NM_020964.3(EPG5):c.1793-19T>C
NM_020964.3(EPG5):c.1793-4C>T
NM_020964.3(EPG5):c.1796A>T (p.Asp599Val)
NM_020964.3(EPG5):c.1800T>C (p.Tyr600=)
NM_020964.3(EPG5):c.1816A>G (p.Arg606Gly) rs2050711394
NM_020964.3(EPG5):c.1818A>G (p.Arg606=)
NM_020964.3(EPG5):c.181A>G (p.Lys61Glu)
NM_020964.3(EPG5):c.1825G>A (p.Glu609Lys)
NM_020964.3(EPG5):c.1847_1859del (p.Ala615_Phe616insTer)
NM_020964.3(EPG5):c.184G>A (p.Val62Met)
NM_020964.3(EPG5):c.1867C>A (p.Leu623Ile) rs572756147
NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro) rs2145906621
NM_020964.3(EPG5):c.1875T>C (p.Ala625=)
NM_020964.3(EPG5):c.1880G>A (p.Gly627Glu) rs1488725589
NM_020964.3(EPG5):c.1896T>C (p.Asn632=) rs372581222
NM_020964.3(EPG5):c.1904G>T (p.Arg635Leu) rs761134702
NM_020964.3(EPG5):c.1907A>G (p.Tyr636Cys) rs2145906346
NM_020964.3(EPG5):c.1910G>T (p.Arg637Met)
NM_020964.3(EPG5):c.1913A>C (p.Gln638Pro) rs2050708572
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
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.1944-16C>T rs575676819
NM_020964.3(EPG5):c.1944-18_1944-16del
NM_020964.3(EPG5):c.1944-3C>G
NM_020964.3(EPG5):c.1944-9C>T
NM_020964.3(EPG5):c.1952T>C (p.Leu651Pro)
NM_020964.3(EPG5):c.1954G>A (p.Gly652Ser)
NM_020964.3(EPG5):c.1954G>T (p.Gly652Cys) rs754417895
NM_020964.3(EPG5):c.1970A>G (p.His657Arg)
NM_020964.3(EPG5):c.1976C>T (p.Ala659Val)
NM_020964.3(EPG5):c.1977A>C (p.Ala659=)
NM_020964.3(EPG5):c.1980G>A (p.Gln660=)
NM_020964.3(EPG5):c.1991del (p.His664fs)
NM_020964.3(EPG5):c.1992T>C (p.His664=)
NM_020964.3(EPG5):c.1998A>G (p.Gln666=)
NM_020964.3(EPG5):c.19C>T (p.Pro7Ser)
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.2019G>T (p.Gln673His) rs928367570
NM_020964.3(EPG5):c.2022C>G (p.Pro674=)
NM_020964.3(EPG5):c.2030T>C (p.Met677Thr)
NM_020964.3(EPG5):c.2041del (p.Gln681fs) rs2145880933
NM_020964.3(EPG5):c.2044G>A (p.Val682Ile) rs2050618634
NM_020964.3(EPG5):c.2052T>C (p.Phe684=)
NM_020964.3(EPG5):c.205C>T (p.Gln69Ter)
NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer) rs2050617604
NM_020964.3(EPG5):c.2069G>A (p.Arg690Lys) rs1568173320
NM_020964.3(EPG5):c.2071G>A (p.Ala691Thr) rs2145880722
NM_020964.3(EPG5):c.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.20C>A (p.Pro7His) rs1368802413
NM_020964.3(EPG5):c.20C>T (p.Pro7Leu) rs1368802413
NM_020964.3(EPG5):c.2100-12G>C
NM_020964.3(EPG5):c.2100-5T>C
NM_020964.3(EPG5):c.2105G>A (p.Gly702Asp)
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.2147_2150del (p.Ser716fs)
NM_020964.3(EPG5):c.2157G>A (p.Met719Ile) rs2145846069
NM_020964.3(EPG5):c.2158C>T (p.Leu720=)
NM_020964.3(EPG5):c.2160G>A (p.Leu720=)
NM_020964.3(EPG5):c.2164A>G (p.Lys722Glu) rs2145845962
NM_020964.3(EPG5):c.2180T>C (p.Met727Thr) rs2050483526
NM_020964.3(EPG5):c.2182C>T (p.His728Tyr) rs2145845822
NM_020964.3(EPG5):c.2190G>A (p.Val730=)
NM_020964.3(EPG5):c.2191dup (p.Glu731fs)
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.2219C>T (p.Ser740Phe)
NM_020964.3(EPG5):c.2236C>T (p.Gln746Ter) rs2050481336
NM_020964.3(EPG5):c.2245C>G (p.Gln749Glu)
NM_020964.3(EPG5):c.2255A>G (p.Gln752Arg) rs2050480635
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.2272A>C (p.Thr758Pro) rs2145819702
NM_020964.3(EPG5):c.2272A>G (p.Thr758Ala) rs2145819702
NM_020964.3(EPG5):c.2275A>G (p.Asn759Asp)
NM_020964.3(EPG5):c.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.2338G>A (p.Ala780Thr)
NM_020964.3(EPG5):c.2346G>A (p.Met782Ile) rs2145819246
NM_020964.3(EPG5):c.2353dup (p.Ala785fs) rs1085308062
NM_020964.3(EPG5):c.2355del (p.Arg786fs)
NM_020964.3(EPG5):c.2364C>T (p.Thr788=)
NM_020964.3(EPG5):c.2378A>G (p.Asp793Gly)
NM_020964.3(EPG5):c.2395G>T (p.Val799Phe) rs376598755
NM_020964.3(EPG5):c.2403G>A (p.Glu801=)
NM_020964.3(EPG5):c.240G>A (p.Met80Ile) rs1410991160
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.2413-15del rs1197236398
NM_020964.3(EPG5):c.2413-16C>G rs550407878
NM_020964.3(EPG5):c.2413-19C>T
NM_020964.3(EPG5):c.2413-2A>G
NM_020964.3(EPG5):c.2413-6A>G
NM_020964.3(EPG5):c.2413-7del
NM_020964.3(EPG5):c.2413-7dup
NM_020964.3(EPG5):c.2413-9C>T rs1394335237
NM_020964.3(EPG5):c.2421T>C (p.Tyr807=)
NM_020964.3(EPG5):c.2427del (p.Leu810fs) rs2145807103
NM_020964.3(EPG5):c.2430G>T (p.Leu810Phe) rs1192483869
NM_020964.3(EPG5):c.2433T>C (p.Ser811=)
NM_020964.3(EPG5):c.2439A>G (p.Arg813=)
NM_020964.3(EPG5):c.2444C>T (p.Thr815Ile) rs2050338855
NM_020964.3(EPG5):c.2449del (p.Ser817fs)
NM_020964.3(EPG5):c.2462G>A (p.Arg821Gln)
NM_020964.3(EPG5):c.2468T>A (p.Leu823His)
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)
NM_020964.3(EPG5):c.2481C>T (p.Ile827=)
NM_020964.3(EPG5):c.2485G>A (p.Ala829Thr)
NM_020964.3(EPG5):c.2488G>C (p.Val830Leu)
NM_020964.3(EPG5):c.2493C>T (p.His831=)
NM_020964.3(EPG5):c.2499G>A (p.Glu833=)
NM_020964.3(EPG5):c.2507C>G (p.Ser836Cys)
NM_020964.3(EPG5):c.2511C>A (p.Val837=)
NM_020964.3(EPG5):c.252A>T (p.Pro84=)
NM_020964.3(EPG5):c.2538T>G (p.Ile846Met)
NM_020964.3(EPG5):c.2548G>A (p.Gly850Arg)
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.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.2577A>G (p.Glu859=)
NM_020964.3(EPG5):c.2581C>T (p.Pro861Ser)
NM_020964.3(EPG5):c.2595G>T (p.Trp865Cys) rs1160786631
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.2629G>C (p.Asp877His) rs1283557669
NM_020964.3(EPG5):c.2646C>T (p.Tyr882=) rs2145782921
NM_020964.3(EPG5):c.2648A>G (p.Asn883Ser) rs767545552
NM_020964.3(EPG5):c.2656G>T (p.Val886Leu)
NM_020964.3(EPG5):c.2662A>T (p.Lys888Ter) rs769833086
NM_020964.3(EPG5):c.2672T>G (p.Leu891Arg) rs2145782672
NM_020964.3(EPG5):c.2676C>T (p.Ala892=)
NM_020964.3(EPG5):c.2682T>C (p.Val894=) rs776504642
NM_020964.3(EPG5):c.2683A>G (p.Ile895Val)
NM_020964.3(EPG5):c.2684T>C (p.Ile895Thr)
NM_020964.3(EPG5):c.2694A>G (p.Gly898=)
NM_020964.3(EPG5):c.2695_2718+32del
NM_020964.3(EPG5):c.2697G>A (p.Leu899=) rs1599585460
NM_020964.3(EPG5):c.2700T>C (p.Asn900=)
NM_020964.3(EPG5):c.2713A>G (p.Lys905Glu)
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.2719-1G>C
NM_020964.3(EPG5):c.2719-20A>G rs780579120
NM_020964.3(EPG5):c.2719-4A>G
NM_020964.3(EPG5):c.2723C>T (p.Thr908Ile) rs2145765529
NM_020964.3(EPG5):c.2724C>A (p.Thr908=)
NM_020964.3(EPG5):c.2724C>T (p.Thr908=)
NM_020964.3(EPG5):c.2731C>G (p.Leu911Val) rs757435994
NM_020964.3(EPG5):c.2737C>T (p.Gln913Ter)
NM_020964.3(EPG5):c.2741C>T (p.Ala914Val)
NM_020964.3(EPG5):c.2747A>G (p.His916Arg)
NM_020964.3(EPG5):c.2751T>C (p.Ala917=)
NM_020964.3(EPG5):c.2758G>T (p.Ala920Ser) rs751746856
NM_020964.3(EPG5):c.276T>C (p.Asn92=)
NM_020964.3(EPG5):c.277G>T (p.Glu93Ter)
NM_020964.3(EPG5):c.2784G>A (p.Gln928=)
NM_020964.3(EPG5):c.2796A>G (p.Ala932=)
NM_020964.3(EPG5):c.2803C>G (p.Pro935Ala) rs2050196248
NM_020964.3(EPG5):c.2803C>T (p.Pro935Ser)
NM_020964.3(EPG5):c.2808T>C (p.Tyr936=)
NM_020964.3(EPG5):c.280G>C (p.Glu94Gln) rs2143792761
NM_020964.3(EPG5):c.2813_2824del (p.Gly938_Ser941del)
NM_020964.3(EPG5):c.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.2839-1G>T
NM_020964.3(EPG5):c.2839-20A>G
NM_020964.3(EPG5):c.2840T>C (p.Val947Ala)
NM_020964.3(EPG5):c.2844A>G (p.Ser948=)
NM_020964.3(EPG5):c.2844A>T (p.Ser948=)
NM_020964.3(EPG5):c.2846A>T (p.Tyr949Phe) rs2050184005
NM_020964.3(EPG5):c.2857A>G (p.Ile953Val) rs2145760173
NM_020964.3(EPG5):c.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.2936A>G (p.Lys979Arg)
NM_020964.3(EPG5):c.2953C>T (p.Gln985Ter)
NM_020964.3(EPG5):c.2976C>A (p.Pro992=)
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe) rs2050179430
NM_020964.3(EPG5):c.2982C>T (p.Ser994=)
NM_020964.3(EPG5):c.299_300del (p.Thr100fs)
NM_020964.3(EPG5):c.29G>A (p.Arg10Gln)
NM_020964.3(EPG5):c.3003A>G (p.Thr1001=)
NM_020964.3(EPG5):c.3022C>T (p.Pro1008Ser)
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.3062G>A (p.Cys1021Tyr)
NM_020964.3(EPG5):c.3067C>T (p.Leu1023=)
NM_020964.3(EPG5):c.3083C>G (p.Thr1028Arg) rs2050174462
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.3098+2T>C rs1599578081
NM_020964.3(EPG5):c.3099-14C>T
NM_020964.3(EPG5):c.310A>G (p.Lys104Glu)
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) rs1483969601
NM_020964.3(EPG5):c.3111C>T (p.Phe1037=)
NM_020964.3(EPG5):c.3113G>A (p.Cys1038Tyr) rs2050066834
NM_020964.3(EPG5):c.3114T>C (p.Cys1038=) rs1213183628
NM_020964.3(EPG5):c.3115G>A (p.Ala1039Thr)
NM_020964.3(EPG5):c.3117A>G (p.Ala1039=)
NM_020964.3(EPG5):c.3130C>A (p.Leu1044Ile)
NM_020964.3(EPG5):c.3132A>G (p.Leu1044=)
NM_020964.3(EPG5):c.3133T>C (p.Leu1045=)
NM_020964.3(EPG5):c.3145G>T (p.Val1049Phe) rs2145725033
NM_020964.3(EPG5):c.3148C>T (p.Gln1050Ter)
NM_020964.3(EPG5):c.3150G>A (p.Gln1050=)
NM_020964.3(EPG5):c.3152C>T (p.Ser1051Leu)
NM_020964.3(EPG5):c.3156A>T (p.Arg1052Ser)
NM_020964.3(EPG5):c.3171G>A (p.Val1057=)
NM_020964.3(EPG5):c.3171G>T (p.Val1057=) rs1401806394
NM_020964.3(EPG5):c.3200del (p.Leu1067fs)
NM_020964.3(EPG5):c.3201A>G (p.Leu1067=) rs1568153152
NM_020964.3(EPG5):c.3206A>G (p.Tyr1069Cys) rs2050064434
NM_020964.3(EPG5):c.3209C>G (p.Pro1070Arg)
NM_020964.3(EPG5):c.3210_3213del (p.Cys1071fs)
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.3240-10T>C
NM_020964.3(EPG5):c.3240-9G>A
NM_020964.3(EPG5):c.3248C>A (p.Ser1083Ter)
NM_020964.3(EPG5):c.3261G>A (p.Leu1087=) rs1599566104
NM_020964.3(EPG5):c.3266T>C (p.Leu1089Pro)
NM_020964.3(EPG5):c.3270C>A (p.His1090Gln) rs2050038241
NM_020964.3(EPG5):c.3276C>T (p.Asp1092=) rs2050037917
NM_020964.3(EPG5):c.3279C>A (p.Ser1093Arg)
NM_020964.3(EPG5):c.3289C>G (p.Gln1097Glu) rs2145716910
NM_020964.3(EPG5):c.3292G>A (p.Gly1098Ser) rs1599566046
NM_020964.3(EPG5):c.329G>C (p.Arg110Thr) rs2143791830
NM_020964.3(EPG5):c.32C>A (p.Ala11Asp)
NM_020964.3(EPG5):c.3303A>G (p.Gln1101=) rs201545867
NM_020964.3(EPG5):c.3315C>T (p.His1105=)
NM_020964.3(EPG5):c.3318G>T (p.Lys1106Asn)
NM_020964.3(EPG5):c.3325C>T (p.Gln1109Ter)
NM_020964.3(EPG5):c.3330C>T (p.His1110=)
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro) rs2050036468
NM_020964.3(EPG5):c.3336A>G (p.Thr1112=)
NM_020964.3(EPG5):c.333C>T (p.Pro111=)
NM_020964.3(EPG5):c.333del (p.Cys112fs)
NM_020964.3(EPG5):c.3348T>C (p.His1116=)
NM_020964.3(EPG5):c.3355A>G (p.Asn1119Asp)
NM_020964.3(EPG5):c.3357C>T (p.Asn1119=)
NM_020964.3(EPG5):c.3362A>G (p.Lys1121Arg)
NM_020964.3(EPG5):c.3363G>T (p.Lys1121Asn)
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.3384G>A (p.Gln1128=) rs2050035169
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.33C>G (p.Ala11=) rs539082493
NM_020964.3(EPG5):c.3400A>T (p.Ser1134Cys)
NM_020964.3(EPG5):c.3411C>A (p.Pro1137=)
NM_020964.3(EPG5):c.341G>T (p.Gly114Val) rs1465876496
NM_020964.3(EPG5):c.3424C>T (p.Pro1142Ser)
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.343G>A (p.Asp115Asn)
NM_020964.3(EPG5):c.3455C>G (p.Ala1152Gly)
NM_020964.3(EPG5):c.3470A>G (p.His1157Arg)
NM_020964.3(EPG5):c.3472C>T (p.Leu1158Phe) rs201959853
NM_020964.3(EPG5):c.3474C>G (p.Leu1158=)
NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter) rs2145713137
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.3487C>T (p.Gln1163Ter)
NM_020964.3(EPG5):c.3489A>C (p.Gln1163His)
NM_020964.3(EPG5):c.348T>C (p.Ser116=)
NM_020964.3(EPG5):c.3493A>C (p.Ile1165Leu)
NM_020964.3(EPG5):c.3493_3497del (p.Ile1165fs)
NM_020964.3(EPG5):c.3501C>A (p.Phe1167Leu)
NM_020964.3(EPG5):c.3505A>T (p.Met1169Leu)
NM_020964.3(EPG5):c.3511C>G (p.His1171Asp) rs774835244
NM_020964.3(EPG5):c.3512A>G (p.His1171Arg) rs1400525515
NM_020964.3(EPG5):c.351A>G (p.Ala117=)
NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg)
NM_020964.3(EPG5):c.353T>C (p.Val118Ala) rs2143791192
NM_020964.3(EPG5):c.3543G>A (p.Gln1181=)
NM_020964.3(EPG5):c.3544G>T (p.Glu1182Ter) rs2145712492
NM_020964.3(EPG5):c.3551G>A (p.Cys1184Tyr)
NM_020964.3(EPG5):c.3555A>G (p.Ile1185Met)
NM_020964.3(EPG5):c.3556C>G (p.Gln1186Glu)
NM_020964.3(EPG5):c.3565C>G (p.Leu1189Val) rs781321117
NM_020964.3(EPG5):c.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+3A>G rs1210376180
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.3590T>A (p.Leu1197Ter)
NM_020964.3(EPG5):c.3594T>C (p.Gly1198=)
NM_020964.3(EPG5):c.3597C>T (p.Tyr1199=)
NM_020964.3(EPG5):c.35AGGCCA[3] (p.12KA[3]) rs769267797
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp) rs764221778
NM_020964.3(EPG5):c.3613C>T (p.Leu1205=)
NM_020964.3(EPG5):c.3614del (p.Leu1205fs) rs1568150793
NM_020964.3(EPG5):c.3618C>G (p.Leu1206=) rs2050011270
NM_020964.3(EPG5):c.3629T>C (p.Val1210Ala) rs2050011051
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.3689C>A (p.Thr1230Asn) rs772294581
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+2_3693+5del rs2050008898
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.3698G>A (p.Trp1233Ter) rs1555673917
NM_020964.3(EPG5):c.36G>A (p.Lys12=)
NM_020964.3(EPG5):c.371C>T (p.Pro124Leu)
NM_020964.3(EPG5):c.3720C>A (p.Asn1240Lys) rs2145694247
NM_020964.3(EPG5):c.3721A>G (p.Met1241Val) rs1258237376
NM_020964.3(EPG5):c.3746C>T (p.Ser1249Phe)
NM_020964.3(EPG5):c.3747C>T (p.Ser1249=)
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro) rs1568149047
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer) rs1555673890
NM_020964.3(EPG5):c.3768A>G (p.Glu1256=)
NM_020964.3(EPG5):c.3778G>A (p.Val1260Met)
NM_020964.3(EPG5):c.3784A>T (p.Asn1262Tyr)
NM_020964.3(EPG5):c.3785del (p.Asn1262fs)
NM_020964.3(EPG5):c.3799C>G (p.Pro1267Ala) rs2049964767
NM_020964.3(EPG5):c.379A>G (p.Asn127Asp)
NM_020964.3(EPG5):c.3808G>A (p.Ala1270Thr) rs1036019427
NM_020964.3(EPG5):c.3816+11C>G
NM_020964.3(EPG5):c.3816+15del
NM_020964.3(EPG5):c.3816+16C>A
NM_020964.3(EPG5):c.3816+4C>A
NM_020964.3(EPG5):c.3816+4_3816+5dup rs2049964277
NM_020964.3(EPG5):c.3817-2A>G
NM_020964.3(EPG5):c.3817-5del
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.3827C>T (p.Thr1276Ile) rs2049927667
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.3856C>T (p.Leu1286Phe)
NM_020964.3(EPG5):c.3859C>T (p.Gln1287Ter)
NM_020964.3(EPG5):c.3882_3883del (p.Trp1294fs)
NM_020964.3(EPG5):c.3886C>G (p.His1296Asp)
NM_020964.3(EPG5):c.3888C>T (p.His1296=)
NM_020964.3(EPG5):c.38C>T (p.Ala13Val)
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.3931A>G (p.Ile1311Val) rs1000037657
NM_020964.3(EPG5):c.3937C>T (p.Gln1313Ter) rs986592823
NM_020964.3(EPG5):c.3938A>G (p.Gln1313Arg) rs2049924645
NM_020964.3(EPG5):c.3945C>T (p.Phe1315=)
NM_020964.3(EPG5):c.3948C>A (p.Phe1316Leu)
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.3984-9dup rs1448453433
NM_020964.3(EPG5):c.4001G>C (p.Cys1334Ser) rs938393640
NM_020964.3(EPG5):c.4005T>C (p.Ile1335=)
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.401C>G (p.Thr134Ser) rs2143790253
NM_020964.3(EPG5):c.4020dup (p.Gln1341fs) rs2145667073
NM_020964.3(EPG5):c.4027C>T (p.Pro1343Ser)
NM_020964.3(EPG5):c.402C>G (p.Thr134=)
NM_020964.3(EPG5):c.4037T>A (p.Ile1346Asn) rs201968905
NM_020964.3(EPG5):c.4037T>C (p.Ile1346Thr) rs201968905
NM_020964.3(EPG5):c.4045T>C (p.Leu1349=)
NM_020964.3(EPG5):c.4047G>T (p.Leu1349Phe) rs1353924182
NM_020964.3(EPG5):c.4051G>T (p.Glu1351Ter)
NM_020964.3(EPG5):c.4066T>C (p.Leu1356=)
NM_020964.3(EPG5):c.4069A>C (p.Thr1357Pro)
NM_020964.3(EPG5):c.4071C>T (p.Thr1357=)
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020964.3(EPG5):c.4074G>A (p.Glu1358=)
NM_020964.3(EPG5):c.4083C>G (p.Asp1361Glu) rs2145666399
NM_020964.3(EPG5):c.408G>A (p.Lys136=)
NM_020964.3(EPG5):c.4095T>C (p.Ala1365=)
NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe) rs2049869676
NM_020964.3(EPG5):c.4112G>A (p.Arg1371His) rs748634612
NM_020964.3(EPG5):c.4125G>A (p.Glu1375=)
NM_020964.3(EPG5):c.4130G>C (p.Ser1377Thr)
NM_020964.3(EPG5):c.4132G>T (p.Glu1378Ter)
NM_020964.3(EPG5):c.4136G>T (p.Gly1379Val) rs749548903
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.4164_4165delinsAT (p.Gly1389Cys) rs2049867986
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys) rs551488784
NM_020964.3(EPG5):c.4173G>T (p.Leu1391=)
NM_020964.3(EPG5):c.4184_4205+5del
NM_020964.3(EPG5):c.4186C>T (p.Leu1396=)
NM_020964.3(EPG5):c.4191C>T (p.His1397=)
NM_020964.3(EPG5):c.4195_4196delinsTT (p.Glu1399Leu) rs2145665111
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.4205+3G>T
NM_020964.3(EPG5):c.4205+4A>T rs1281050179
NM_020964.3(EPG5):c.4214A>G (p.Asn1405Ser)
NM_020964.3(EPG5):c.4214A>T (p.Asn1405Ile)
NM_020964.3(EPG5):c.4218A>G (p.Val1406=) rs1599546418
NM_020964.3(EPG5):c.4231C>A (p.Leu1411Ile) rs1406862002
NM_020964.3(EPG5):c.4232T>G (p.Leu1411Arg)
NM_020964.3(EPG5):c.4233A>G (p.Leu1411=)
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter) rs190673127
NM_020964.3(EPG5):c.4250A>C (p.Gln1417Pro) rs2049798752
NM_020964.3(EPG5):c.4251A>G (p.Gln1417=)
NM_020964.3(EPG5):c.4260T>C (p.Asp1420=)
NM_020964.3(EPG5):c.4261A>G (p.Thr1421Ala) rs1231659675
NM_020964.3(EPG5):c.4263C>G (p.Thr1421=)
NM_020964.3(EPG5):c.4269C>T (p.Ile1423=) rs765537954
NM_020964.3(EPG5):c.427G>A (p.Glu143Lys) rs2143789664
NM_020964.3(EPG5):c.4284G>A (p.Lys1428=)
NM_020964.3(EPG5):c.4286A>G (p.His1429Arg)
NM_020964.3(EPG5):c.4286A>T (p.His1429Leu) rs1329572416
NM_020964.3(EPG5):c.4286del (p.His1429fs) rs1568142333
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.4312G>A (p.Val1438Met) rs779984615
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.4329+3G>A
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.4330-6T>C
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.4346A>G (p.Tyr1449Cys)
NM_020964.3(EPG5):c.4347T>C (p.Tyr1449=)
NM_020964.3(EPG5):c.4354A>G (p.Met1452Val) rs2145611568
NM_020964.3(EPG5):c.4356G>A (p.Met1452Ile) rs2145611526
NM_020964.3(EPG5):c.4361G>A (p.Arg1454His)
NM_020964.3(EPG5):c.4361G>T (p.Arg1454Leu) rs766875773
NM_020964.3(EPG5):c.4374G>A (p.Glu1458=)
NM_020964.3(EPG5):c.437C>T (p.Ser146Leu) rs368719987
NM_020964.3(EPG5):c.4380G>A (p.Gln1460=)
NM_020964.3(EPG5):c.4385C>G (p.Thr1462Ser)
NM_020964.3(EPG5):c.4386T>G (p.Thr1462=)
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs) rs1599536432
NM_020964.3(EPG5):c.438G>C (p.Ser146=)
NM_020964.3(EPG5):c.4391del (p.Gly1464fs)
NM_020964.3(EPG5):c.4400C>T (p.Thr1467Ile)
NM_020964.3(EPG5):c.4401A>C (p.Thr1467=)
NM_020964.3(EPG5):c.4429C>G (p.Pro1477Ala) rs2049688459
NM_020964.3(EPG5):c.4429C>T (p.Pro1477Ser) rs2049688459
NM_020964.3(EPG5):c.4430C>T (p.Pro1477Leu)
NM_020964.3(EPG5):c.4443C>T (p.Ser1481=)
NM_020964.3(EPG5):c.444_445delinsTT (p.Gln148_Gly149delinsHisCys) rs2143789374
NM_020964.3(EPG5):c.4452G>A (p.Leu1484=)
NM_020964.3(EPG5):c.445G>A (p.Gly149Ser)
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.4475-1G>A
NM_020964.3(EPG5):c.4475-2A>C
NM_020964.3(EPG5):c.4475C>G (p.Ala1492Gly)
NM_020964.3(EPG5):c.4480G>A (p.Glu1494Lys)
NM_020964.3(EPG5):c.4481A>G (p.Glu1494Gly)
NM_020964.3(EPG5):c.4485G>A (p.Arg1495=)
NM_020964.3(EPG5):c.4497C>A (p.Asn1499Lys)
NM_020964.3(EPG5):c.4497C>T (p.Asn1499=)
NM_020964.3(EPG5):c.4499T>A (p.Leu1500Ter)
NM_020964.3(EPG5):c.449G>A (p.Gly150Glu)
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp) rs370776793
NM_020964.3(EPG5):c.450A>T (p.Gly150=)
NM_020964.3(EPG5):c.4513G>A (p.Ala1505Thr) rs2145589544
NM_020964.3(EPG5):c.4514C>T (p.Ala1505Val)
NM_020964.3(EPG5):c.4520A>G (p.Gln1507Arg)
NM_020964.3(EPG5):c.4523C>G (p.Pro1508Arg)
NM_020964.3(EPG5):c.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.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.4589A>G (p.Gln1530Arg)
NM_020964.3(EPG5):c.4597_4599del (p.Ala1533del) rs2145588427
NM_020964.3(EPG5):c.4601C>T (p.Thr1534Ile) rs1599529163
NM_020964.3(EPG5):c.4605G>C (p.Gln1535His) rs2145588320
NM_020964.3(EPG5):c.4608G>A (p.Leu1536=) rs2145588277
NM_020964.3(EPG5):c.4618G>C (p.Asp1540His)
NM_020964.3(EPG5):c.4620C>T (p.Asp1540=)
NM_020964.3(EPG5):c.4636C>T (p.Gln1546Ter)
NM_020964.3(EPG5):c.463G>T (p.Ala155Ser)
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+20C>T rs191567436
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.4651G>T (p.Ala1551Ser)
NM_020964.3(EPG5):c.4659T>A (p.Leu1553=)
NM_020964.3(EPG5):c.4659T>C (p.Leu1553=)
NM_020964.3(EPG5):c.4660C>T (p.Arg1554Trp)
NM_020964.3(EPG5):c.4664A>T (p.Glu1555Val)
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
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.4681C>G (p.Leu1561Val) rs944495980
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.4700A>G (p.Asp1567Gly) rs2145576239
NM_020964.3(EPG5):c.4704A>C (p.Thr1568=)
NM_020964.3(EPG5):c.4708C>A (p.Pro1570Thr)
NM_020964.3(EPG5):c.4713G>A (p.Lys1571=) rs2049556298
NM_020964.3(EPG5):c.4719T>G (p.Tyr1573Ter)
NM_020964.3(EPG5):c.471A>G (p.Gln157=)
NM_020964.3(EPG5):c.4727G>A (p.Arg1576His)
NM_020964.3(EPG5):c.4740C>T (p.Thr1580=)
NM_020964.3(EPG5):c.4743A>G (p.Thr1581=) rs1225206726
NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro) rs1345938343
NM_020964.3(EPG5):c.4750T>C (p.Leu1584=)
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4758C>T (p.Cys1586=)
NM_020964.3(EPG5):c.4762G>A (p.Gly1588Ser)
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.4771G>T (p.Gly1591Cys) rs370120497
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
NM_020964.3(EPG5):c.4790C>T (p.Ala1597Val) rs2145575510
NM_020964.3(EPG5):c.4792G>T (p.Ala1598Ser) rs769998231
NM_020964.3(EPG5):c.4794A>T (p.Ala1598=)
NM_020964.3(EPG5):c.4809+13A>G
NM_020964.3(EPG5):c.4809+1G>A
NM_020964.3(EPG5):c.4809+20C>T
NM_020964.3(EPG5):c.480T>C (p.Phe160=)
NM_020964.3(EPG5):c.4810-16C>G
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)
NM_020964.3(EPG5):c.4823A>G (p.His1608Arg)
NM_020964.3(EPG5):c.4837A>G (p.Ile1613Val) rs746065186
NM_020964.3(EPG5):c.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.486_491del (p.Tyr162_Gln164delinsTer)
NM_020964.3(EPG5):c.4876C>T (p.Gln1626Ter)
NM_020964.3(EPG5):c.4878G>A (p.Gln1626=)
NM_020964.3(EPG5):c.488C>T (p.Thr163Ile) rs1167290983
NM_020964.3(EPG5):c.4894G>T (p.Ala1632Ser)
NM_020964.3(EPG5):c.4903C>T (p.Pro1635Ser) rs2145491502
NM_020964.3(EPG5):c.4917T>C (p.Ile1639=)
NM_020964.3(EPG5):c.4923A>C (p.Glu1641Asp) rs1383396807
NM_020964.3(EPG5):c.4931_4936del (p.Val1644_His1645del) rs2145491212
NM_020964.3(EPG5):c.493C>G (p.Pro165Ala) rs2143788531
NM_020964.3(EPG5):c.4952+16A>G
NM_020964.3(EPG5):c.4952+19A>G
NM_020964.3(EPG5):c.4952+1G>A rs2049301523
NM_020964.3(EPG5):c.4952+2dup rs2145491038
NM_020964.3(EPG5):c.4952+4A>G
NM_020964.3(EPG5):c.4952+8T>C
NM_020964.3(EPG5):c.4952C>T (p.Thr1651Met)
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.4960G>A (p.Val1654Met)
NM_020964.3(EPG5):c.4962G>A (p.Val1654=)
NM_020964.3(EPG5):c.4965T>G (p.Asn1655Lys) rs2049253483
NM_020964.3(EPG5):c.4979A>G (p.Gln1660Arg)
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.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTTTCTTT (p.Thr1675delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer) rs2145474267
NM_020964.3(EPG5):c.5026A>G (p.Ile1676Val) rs2049251873
NM_020964.3(EPG5):c.5027T>C (p.Ile1676Thr)
NM_020964.3(EPG5):c.5033A>C (p.Asp1678Ala) rs2049251601
NM_020964.3(EPG5):c.5040C>G (p.Val1680=)
NM_020964.3(EPG5):c.5044G>A (p.Asp1682Asn)
NM_020964.3(EPG5):c.5045_5057dup (p.Arg1686_His1687insTer)
NM_020964.3(EPG5):c.5047G>C (p.Glu1683Gln)
NM_020964.3(EPG5):c.5052G>C (p.Thr1684=)
NM_020964.3(EPG5):c.5056C>T (p.Arg1686Cys)
NM_020964.3(EPG5):c.5064C>T (p.Pro1688=)
NM_020964.3(EPG5):c.5070A>C (p.Thr1690=)
NM_020964.3(EPG5):c.5107C>T (p.Gln1703Ter)
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.5110-1G>C
NM_020964.3(EPG5):c.5110-2A>G
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.5168A>G (p.Asn1723Ser)
NM_020964.3(EPG5):c.5179T>C (p.Cys1727Arg)
NM_020964.3(EPG5):c.5203A>G (p.Thr1735Ala) rs2145444248
NM_020964.3(EPG5):c.5205T>A (p.Thr1735=) rs2145444187
NM_020964.3(EPG5):c.5208C>T (p.Pro1736=)
NM_020964.3(EPG5):c.5218C>A (p.Pro1740Thr) rs2145443901
NM_020964.3(EPG5):c.5233C>G (p.Gln1745Glu)
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.5251G>A (p.Val1751Met)
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+1G>A
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.5322G>T (p.Trp1774Cys) rs2145423076
NM_020964.3(EPG5):c.5322del (p.Trp1774fs)
NM_020964.3(EPG5):c.5327G>C (p.Ser1776Thr)
NM_020964.3(EPG5):c.5329G>A (p.Ala1777Thr)
NM_020964.3(EPG5):c.5344C>T (p.Leu1782=) rs1460858428
NM_020964.3(EPG5):c.5353C>T (p.Arg1785Cys)
NM_020964.3(EPG5):c.5365C>T (p.Leu1789=)
NM_020964.3(EPG5):c.5370G>A (p.Glu1790=)
NM_020964.3(EPG5):c.5371T>C (p.Ser1791Pro) rs2049117384
NM_020964.3(EPG5):c.5382_5388del (p.Ala1795fs) rs2145422618
NM_020964.3(EPG5):c.5384C>T (p.Ala1795Val)
NM_020964.3(EPG5):c.5385A>C (p.Ala1795=)
NM_020964.3(EPG5):c.5389dup (p.Thr1797fs)
NM_020964.3(EPG5):c.5390C>G (p.Thr1797Ser) rs1411482327
NM_020964.3(EPG5):c.5399G>T (p.Gly1800Val)
NM_020964.3(EPG5):c.5403T>A (p.Leu1801=) rs751446448
NM_020964.3(EPG5):c.5403T>C (p.Leu1801=)
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
NM_020964.3(EPG5):c.5413G>C (p.Glu1805Gln)
NM_020964.3(EPG5):c.5418T>C (p.Asp1806=)
NM_020964.3(EPG5):c.5420T>C (p.Ile1807Thr) rs764666107
NM_020964.3(EPG5):c.5427G>A (p.Met1809Ile) rs1311100994
NM_020964.3(EPG5):c.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.5455A>G (p.Thr1819Ala)
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>G (p.Tyr1824Ter)
NM_020964.3(EPG5):c.5472C>T (p.Tyr1824=)
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5490C>A (p.Tyr1830Ter)
NM_020964.3(EPG5):c.5490C>T (p.Tyr1830=)
NM_020964.3(EPG5):c.5492G>A (p.Ser1831Asn)
NM_020964.3(EPG5):c.5500C>A (p.Leu1834Ile) rs2049113990
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.551G>T (p.Gly184Val)
NM_020964.3(EPG5):c.5526G>A (p.Ala1842=) rs749486885
NM_020964.3(EPG5):c.552C>T (p.Gly184=)
NM_020964.3(EPG5):c.5531A>G (p.Gln1844Arg) rs1232750336
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.5544C>T (p.Pro1848=) rs578073131
NM_020964.3(EPG5):c.5544del (p.Glu1849fs)
NM_020964.3(EPG5):c.5548T>A (p.Cys1850Ser) rs1599479322
NM_020964.3(EPG5):c.5548T>C (p.Cys1850Arg) rs1599479322
NM_020964.3(EPG5):c.5550T>C (p.Cys1850=)
NM_020964.3(EPG5):c.5556G>A (p.Lys1852=)
NM_020964.3(EPG5):c.5563C>G (p.Leu1855Val) rs1023469699
NM_020964.3(EPG5):c.5564_5565del (p.Leu1855fs)
NM_020964.3(EPG5):c.5570C>T (p.Ala1857Val)
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.5576G>T (p.Gly1859Val) rs1450706583
NM_020964.3(EPG5):c.5576del (p.Gly1859fs)
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser) rs34977955
NM_020964.3(EPG5):c.5589C>G (p.Pro1863=)
NM_020964.3(EPG5):c.5592C>G (p.Ser1864Arg) rs2145404973
NM_020964.3(EPG5):c.5601G>A (p.Gln1867=)
NM_020964.3(EPG5):c.5602G>C (p.Gly1868Arg) rs762207905
NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp) rs762207905
NM_020964.3(EPG5):c.5608G>C (p.Ala1870Pro)
NM_020964.3(EPG5):c.5614A>G (p.Thr1872Ala) rs1568116795
NM_020964.3(EPG5):c.5616C>A (p.Thr1872=) rs141282194
NM_020964.3(EPG5):c.5617G>T (p.Glu1873Ter) rs370720753
NM_020964.3(EPG5):c.5622C>T (p.Gly1874=)
NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)
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.5636G>A (p.Ser1879Asn) rs1213600316
NM_020964.3(EPG5):c.5637C>G (p.Ser1879Arg) rs2049060710
NM_020964.3(EPG5):c.5646T>C (p.Asp1882=)
NM_020964.3(EPG5):c.5648C>T (p.Ala1883Val) rs750003350
NM_020964.3(EPG5):c.5649T>A (p.Ala1883=)
NM_020964.3(EPG5):c.5658A>G (p.Ser1886=)
NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs) rs2049058963
NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs)
NM_020964.3(EPG5):c.5667+17C>G
NM_020964.3(EPG5):c.5667+18T>C
NM_020964.3(EPG5):c.5667+4T>C rs2049058336
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.5669dup (p.Met1891fs)
NM_020964.3(EPG5):c.5683C>T (p.Gln1895Ter)
NM_020964.3(EPG5):c.5689C>T (p.Leu1897Phe) rs2049037342
NM_020964.3(EPG5):c.5694A>C (p.Ser1898=)
NM_020964.3(EPG5):c.5700T>G (p.Phe1900Leu)
NM_020964.3(EPG5):c.5704dup (p.Tyr1902fs)
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.5718A>G (p.Leu1906=)
NM_020964.3(EPG5):c.5737A>T (p.Ser1913Cys) rs1555666104
NM_020964.3(EPG5):c.573G>A (p.Val191=)
NM_020964.3(EPG5):c.5748A>G (p.Leu1916=)
NM_020964.3(EPG5):c.5761A>T (p.Ser1921Cys) rs2145393709
NM_020964.3(EPG5):c.5764C>G (p.Pro1922Ala)
NM_020964.3(EPG5):c.5774C>G (p.Ala1925Gly) rs2145393537
NM_020964.3(EPG5):c.5774del (p.Ala1925fs) rs2145393546
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.5819A>T (p.Asp1940Val)
NM_020964.3(EPG5):c.5823A>G (p.Leu1941=) rs2145393184
NM_020964.3(EPG5):c.582del (p.Asn194fs)
NM_020964.3(EPG5):c.5832C>T (p.Thr1944=)
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)
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.5854G>A (p.Ala1952Thr) rs111806310
NM_020964.3(EPG5):c.5858G>A (p.Ser1953Asn)
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.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.5883A>G (p.Leu1961=)
NM_020964.3(EPG5):c.5885A>G (p.His1962Arg) rs1295248603
NM_020964.3(EPG5):c.5886T>C (p.His1962=)
NM_020964.3(EPG5):c.5889A>C (p.Ser1963=)
NM_020964.3(EPG5):c.5890G>T (p.Val1964Leu)
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.5929G>C (p.Glu1977Gln) rs750230003
NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys) rs150214973
NM_020964.3(EPG5):c.5937C>T (p.Asn1979=)
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
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.5943-14T>G
NM_020964.3(EPG5):c.5943-19G>A
NM_020964.3(EPG5):c.5943-2A>G
NM_020964.3(EPG5):c.5943-4A>C
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.5949A>G (p.Gln1983=) rs909993678
NM_020964.3(EPG5):c.5955G>A (p.Arg1985=)
NM_020964.3(EPG5):c.5960A>T (p.Tyr1987Phe) rs2145364969
NM_020964.3(EPG5):c.5962_5968del (p.Tyr1987_Pro1988insTer)
NM_020964.3(EPG5):c.5964C>T (p.Pro1988=)
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5970A>G (p.Leu1990=)
NM_020964.3(EPG5):c.5971G>T (p.Glu1991Ter)
NM_020964.3(EPG5):c.5972A>G (p.Glu1991Gly) rs2048970400
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.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6014C>T (p.Thr2005Ile) rs772171146
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs) rs1064795230
NM_020964.3(EPG5):c.6049+10T>C
NM_020964.3(EPG5):c.6049+19G>A
NM_020964.3(EPG5):c.6049+2T>C
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_020964.3(EPG5):c.6050-3T>C
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.6068A>T (p.Asp2023Val) rs2145310998
NM_020964.3(EPG5):c.606A>C (p.Pro202=) rs779003764
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6090C>T (p.His2030=)
NM_020964.3(EPG5):c.6093G>A (p.Leu2031=) rs2145310571
NM_020964.3(EPG5):c.6095T>G (p.Met2032Arg) rs971428390
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.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.611A>C (p.Lys204Thr) rs749123170
NM_020964.3(EPG5):c.6130C>T (p.Pro2044Ser)
NM_020964.3(EPG5):c.6132A>G (p.Pro2044=)
NM_020964.3(EPG5):c.6153C>T (p.Phe2051=) rs1325744104
NM_020964.3(EPG5):c.6155A>G (p.His2052Arg)
NM_020964.3(EPG5):c.6156T>C (p.His2052=)
NM_020964.3(EPG5):c.6166C>G (p.Arg2056Gly)
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.6184G>T (p.Asp2062Tyr)
NM_020964.3(EPG5):c.6187C>T (p.Leu2063=) rs767925401
NM_020964.3(EPG5):c.6190C>T (p.His2064Tyr) rs1269756096
NM_020964.3(EPG5):c.6201G>A (p.Gln2067=) rs2145309151
NM_020964.3(EPG5):c.6204G>T (p.Met2068Ile) rs2048848821
NM_020964.3(EPG5):c.6213G>A (p.Glu2071=) rs1799077479
NM_020964.3(EPG5):c.6218del (p.Phe2073fs)
NM_020964.3(EPG5):c.6224A>T (p.Lys2075Ile)
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+2T>C
NM_020964.3(EPG5):c.6225+6C>T
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.6226-8dup
NM_020964.3(EPG5):c.6228G>A (p.Val2076=)
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.6253T>G (p.Phe2085Val) rs769470632
NM_020964.3(EPG5):c.6262T>C (p.Leu2088=) rs2048776724
NM_020964.3(EPG5):c.6267G>A (p.Gly2089=)
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.6283G>A (p.Val2095Ile) rs2048776242
NM_020964.3(EPG5):c.6285C>G (p.Val2095=)
NM_020964.3(EPG5):c.6287A>C (p.Asn2096Thr) rs141854483
NM_020964.3(EPG5):c.63+13C>T
NM_020964.3(EPG5):c.63+14C>A rs757703100
NM_020964.3(EPG5):c.63+14C>T
NM_020964.3(EPG5):c.63+15C>G
NM_020964.3(EPG5):c.63+15del rs11301517
NM_020964.3(EPG5):c.63+16del
NM_020964.3(EPG5):c.63+17C>G
NM_020964.3(EPG5):c.63+1G>T
NM_020964.3(EPG5):c.63+8T>A
NM_020964.3(EPG5):c.63+9C>T
NM_020964.3(EPG5):c.6311C>G (p.Ala2104Gly)
NM_020964.3(EPG5):c.6312C>A (p.Ala2104=)
NM_020964.3(EPG5):c.631A>T (p.Arg211Ter)
NM_020964.3(EPG5):c.6321C>T (p.Ser2107=) rs1005071205
NM_020964.3(EPG5):c.6323G>T (p.Ser2108Ile)
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.6353_6356del (p.Val2118fs) rs1599447883
NM_020964.3(EPG5):c.635T>C (p.Val212Ala)
NM_020964.3(EPG5):c.6364T>C (p.Phe2122Leu) rs1025405891
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.6377T>G (p.Leu2126Ter)
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.6410_6411del (p.Thr2137fs)
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.6419C>G (p.Pro2140Arg)
NM_020964.3(EPG5):c.6419dup (p.Leu2141fs)
NM_020964.3(EPG5):c.641A>C (p.Lys214Thr)
NM_020964.3(EPG5):c.6421T>G (p.Leu2141Val) rs2145270811
NM_020964.3(EPG5):c.6428G>A (p.Ser2143Asn)
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.644T>G (p.Leu215Arg)
NM_020964.3(EPG5):c.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.6487A>C (p.Ser2163Arg)
NM_020964.3(EPG5):c.6489T>C (p.Ser2163=)
NM_020964.3(EPG5):c.6494T>G (p.Leu2165Arg)
NM_020964.3(EPG5):c.6508A>G (p.Ser2170Gly) rs2145269888
NM_020964.3(EPG5):c.6519G>C (p.Pro2173=)
NM_020964.3(EPG5):c.6531C>T (p.Ile2177=)
NM_020964.3(EPG5):c.6541G>T (p.Glu2181Ter)
NM_020964.3(EPG5):c.6549T>C (p.Tyr2183=)
NM_020964.3(EPG5):c.655T>C (p.Leu219=)
NM_020964.3(EPG5):c.6560T>C (p.Ile2187Thr)
NM_020964.3(EPG5):c.6574A>G (p.Lys2192Glu)
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
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.6595A>G (p.Ile2199Val) rs1555662276
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+4A>C
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.6622-23dup 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.6622-7del rs11333207
NM_020964.3(EPG5):c.6622-9_6622-7del rs11333207
NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu)
NM_020964.3(EPG5):c.6641A>G (p.Gln2214Arg) rs2145257667
NM_020964.3(EPG5):c.6642A>G (p.Gln2214=)
NM_020964.3(EPG5):c.6658A>G (p.Met2220Val) rs1431261711
NM_020964.3(EPG5):c.6678C>T (p.Thr2226=)
NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln) rs2145257250
NM_020964.3(EPG5):c.6682G>A (p.Glu2228Lys)
NM_020964.3(EPG5):c.6687A>G (p.Gln2229=)
NM_020964.3(EPG5):c.6689del (p.Asn2230fs)
NM_020964.3(EPG5):c.6691G>A (p.Gly2231Arg)
NM_020964.3(EPG5):c.6717A>G (p.Glu2239=) rs766604013
NM_020964.3(EPG5):c.671_672insCAGC (p.Gly225fs)
NM_020964.3(EPG5):c.6723A>G (p.Glu2241=) rs2145256783
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
NM_020964.3(EPG5):c.6725T>C (p.Met2242Thr)
NM_020964.3(EPG5):c.6726G>A (p.Met2242Ile) rs866193216
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.6752del (p.Val2251fs) rs1057516194
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+4A>C rs2048727518
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.6779A>G (p.Gln2260Arg)
NM_020964.3(EPG5):c.6783C>T (p.Thr2261=)
NM_020964.3(EPG5):c.6790A>G (p.Met2264Val)
NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del)
NM_020964.3(EPG5):c.6803G>A (p.Ser2268Asn)
NM_020964.3(EPG5):c.6807C>G (p.Leu2269=)
NM_020964.3(EPG5):c.6810T>C (p.Phe2270=) rs2145210565
NM_020964.3(EPG5):c.6812T>A (p.Met2271Lys)
NM_020964.3(EPG5):c.6840G>A (p.Ala2280=)
NM_020964.3(EPG5):c.6853G>T (p.Ala2285Ser)
NM_020964.3(EPG5):c.6865C>T (p.Arg2289Trp)
NM_020964.3(EPG5):c.6874A>G (p.Ile2292Val)
NM_020964.3(EPG5):c.6878G>A (p.Arg2293Gln)
NM_020964.3(EPG5):c.6882C>G (p.Thr2294=)
NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter) rs772325682
NM_020964.3(EPG5):c.6889G>C (p.Gly2297Arg) rs1599429977
NM_020964.3(EPG5):c.6894A>G (p.Gln2298=)
NM_020964.3(EPG5):c.6898dup (p.Met2300fs)
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.692T>A (p.Val231Glu)
NM_020964.3(EPG5):c.6945C>T (p.Ser2315=)
NM_020964.3(EPG5):c.6948G>A (p.Leu2316=)
NM_020964.3(EPG5):c.6950C>T (p.Ala2317Val)
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.7006G>C (p.Glu2336Gln)
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.7013C>T (p.Pro2338Leu) rs2048570351
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.7156G>A (p.Glu2386Lys)
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter) rs373944025
NM_020964.3(EPG5):c.7158A>G (p.Glu2386=)
NM_020964.3(EPG5):c.7169G>A (p.Arg2390Lys)
NM_020964.3(EPG5):c.7170G>A (p.Arg2390=)
NM_020964.3(EPG5):c.7172A>G (p.Asn2391Ser)
NM_020964.3(EPG5):c.7183G>A (p.Val2395Met)
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.7210G>A (p.Glu2404Lys) rs2145197221
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918
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.7227-14G>A
NM_020964.3(EPG5):c.7227-18del
NM_020964.3(EPG5):c.7227-9C>T
NM_020964.3(EPG5):c.722G>A (p.Arg241Gln)
NM_020964.3(EPG5):c.7231G>A (p.Val2411Met) rs764568339
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_020964.3(EPG5):c.7245A>G (p.Ala2415=)
NM_020964.3(EPG5):c.7257G>A (p.Leu2419=)
NM_020964.3(EPG5):c.7266C>G (p.His2422Gln) rs2048553679
NM_020964.3(EPG5):c.727T>C (p.Tyr243His)
NM_020964.3(EPG5):c.7281C>G (p.Leu2427=)
NM_020964.3(EPG5):c.7286T>A (p.Leu2429His) rs2048553005
NM_020964.3(EPG5):c.7293G>A (p.Gln2431=)
NM_020964.3(EPG5):c.7294A>T (p.Thr2432Ser) rs768694584
NM_020964.3(EPG5):c.729C>T (p.Tyr243=)
NM_020964.3(EPG5):c.7307A>G (p.Asp2436Gly) rs2048551891
NM_020964.3(EPG5):c.7320A>G (p.Thr2440=)
NM_020964.3(EPG5):c.7323A>G (p.Glu2441=)
NM_020964.3(EPG5):c.7324T>C (p.Ser2442Pro) rs764577859
NM_020964.3(EPG5):c.7334G>A (p.Arg2445Gln)
NM_020964.3(EPG5):c.7344C>G (p.Leu2448=)
NM_020964.3(EPG5):c.7350T>G (p.Val2450=)
NM_020964.3(EPG5):c.7356C>G (p.Ser2452Arg)
NM_020964.3(EPG5):c.7372G>T (p.Ala2458Ser) rs2048549989
NM_020964.3(EPG5):c.7373C>T (p.Ala2458Val)
NM_020964.3(EPG5):c.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.7420C>T (p.Arg2474Trp)
NM_020964.3(EPG5):c.7422G>A (p.Arg2474=)
NM_020964.3(EPG5):c.7434G>A (p.Leu2478=)
NM_020964.3(EPG5):c.743C>T (p.Ser248Phe)
NM_020964.3(EPG5):c.7440C>G (p.Asn2480Lys) rs2048548037
NM_020964.3(EPG5):c.7442+10C>T
NM_020964.3(EPG5):c.7442+11G>T
NM_020964.3(EPG5):c.7442+5G>A rs1177839830
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.7443-621A>G rs930302721
NM_020964.3(EPG5):c.7443-8T>C
NM_020964.3(EPG5):c.7443-9A>T rs2145173560
NM_020964.3(EPG5):c.7448G>A (p.Arg2483Gln) rs770594769
NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp) rs777272603
NM_020964.3(EPG5):c.7459C>T (p.Arg2487Ter) rs2145173322
NM_020964.3(EPG5):c.7460G>A (p.Arg2487Gln) rs912810095
NM_020964.3(EPG5):c.7469C>T (p.Ala2490Val)
NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile) rs1374928586
NM_020964.3(EPG5):c.7492C>T (p.Pro2498Ser)
NM_020964.3(EPG5):c.7507A>G (p.Ile2503Val) rs2048500326
NM_020964.3(EPG5):c.7510C>T (p.Arg2504Cys)
NM_020964.3(EPG5):c.7520C>G (p.Pro2507Arg) rs2145172677
NM_020964.3(EPG5):c.7523G>T (p.Gly2508Val) rs751623844
NM_020964.3(EPG5):c.7538T>C (p.Leu2513Pro) rs2145172527
NM_020964.3(EPG5):c.7542C>T (p.Thr2514=)
NM_020964.3(EPG5):c.7545del (p.Ala2517fs) rs2145172418
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+5G>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.7558-18A>T
NM_020964.3(EPG5):c.7558-5T>C
NM_020964.3(EPG5):c.7560T>A (p.Ala2520=)
NM_020964.3(EPG5):c.7565A>G (p.Asn2522Ser) rs2048438947
NM_020964.3(EPG5):c.7568C>G (p.Ala2523Gly) rs2048438822
NM_020964.3(EPG5):c.7569T>C (p.Ala2523=)
NM_020964.3(EPG5):c.7603G>A (p.Glu2535Lys)
NM_020964.3(EPG5):c.7612G>T (p.Asp2538Tyr) rs748731055
NM_020964.3(EPG5):c.7617A>G (p.Gln2539=)
NM_020964.3(EPG5):c.7626A>G (p.Gln2542=)
NM_020964.3(EPG5):c.7627G>A (p.Ala2543Thr) rs1172390303
NM_020964.3(EPG5):c.762A>G (p.Pro254=)
NM_020964.3(EPG5):c.7660C>A (p.Leu2554Ile) rs1239915974
NM_020964.3(EPG5):c.7666G>A (p.Asp2556Asn) rs2145147078
NM_020964.3(EPG5):c.7672A>T (p.Lys2558Ter)
NM_020964.3(EPG5):c.7674A>G (p.Lys2558=) rs1555658766
NM_020964.3(EPG5):c.7680C>T (p.Phe2560=)
NM_020964.3(EPG5):c.7684G>T (p.Ala2562Ser) rs757431427
NM_020964.3(EPG5):c.7685C>G (p.Ala2562Gly) rs2145146931
NM_020964.3(EPG5):c.7686T>C (p.Ala2562=)
NM_020964.3(EPG5):c.7689T>G (p.Leu2563=)
NM_020964.3(EPG5):c.7690C>T (p.Leu2564Phe) rs2145146898
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.7735C>T (p.Arg2579Ter)
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln) rs763628666
NM_020964.3(EPG5):c.787T>C (p.Leu263=)
NM_020964.3(EPG5):c.78T>C (p.Tyr26=)
NM_020964.3(EPG5):c.814G>A (p.Val272Ile) rs367846863
NM_020964.3(EPG5):c.822A>G (p.Ser274=)
NM_020964.3(EPG5):c.830A>G (p.Glu277Gly) rs2050982781
NM_020964.3(EPG5):c.856G>A (p.Asp286Asn)
NM_020964.3(EPG5):c.870T>C (p.Phe290=) rs2050981551
NM_020964.3(EPG5):c.871T>A (p.Tyr291Asn)
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.964A>G (p.Lys322Glu) rs1294882967
NM_020964.3(EPG5):c.971G>A (p.Arg324Gln) rs769257858
NM_020964.3(EPG5):c.972G>T (p.Arg324=) rs563029581
NM_020964.3(EPG5):c.981G>A (p.Gln327=) rs2143779227
NM_020964.3(EPG5):c.998T>C (p.Met333Thr) rs1052199553
Single allele

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