ClinVar Miner

List of variants studied for Vici syndrome

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ClinVar version:
Total variants: 2183
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.6621+29A>G rs3826633 0.79381
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val) rs1893523 0.25621
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 0.11628
NM_020964.3(EPG5):c.7558-11G>A rs57761448 0.10443
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn) rs34064739 0.04946
NM_020964.3(EPG5):c.2532G>C (p.Glu844Asp) rs3744999 0.04674
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727 0.02148
NM_020964.3(EPG5):c.63+18C>T rs555802868 0.02083
NM_020964.3(EPG5):c.3385-20C>T rs6507647 0.02046
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln) rs34674177 0.01298
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01253
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg) rs61734402 0.01093
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00971
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.1399C>T (p.Leu467=) rs145998030 0.00754
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476 0.00708
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val) rs61744077 0.00541
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn) rs145177562 0.00525
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val) rs148777356 0.00488
NM_020964.3(EPG5):c.7443-14C>T rs150647938 0.00473
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908 0.00384
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) rs9965714 0.00369
NM_020964.3(EPG5):c.18G>A (p.Lys6=) rs181345590 0.00336
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 0.00281
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=) rs182255496 0.00238
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00235
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338 0.00210
NM_020964.3(EPG5):c.2259C>T (p.Asp753=) rs142253896 0.00200
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_020964.3(EPG5):c.1571+7G>A rs202014798 0.00167
NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys) rs148098259 0.00164
NM_020964.3(EPG5):c.780A>G (p.Leu260=) rs186213665 0.00147
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033 0.00133
NM_020964.3(EPG5):c.4891G>A (p.Ala1631Thr) rs182512524 0.00116
NM_020964.3(EPG5):c.6226-18T>G rs114958790 0.00113
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079 0.00113
NM_020964.3(EPG5):c.3079A>G (p.Met1027Val) rs200114829 0.00094
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00093
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=) rs35073566 0.00082
NM_020964.3(EPG5):c.438G>A (p.Ser146=) rs186410807 0.00081
NM_020964.3(EPG5):c.7621T>C (p.Leu2541=) rs371309452 0.00079
NM_020964.3(EPG5):c.3385-4A>T rs150567949 0.00078
NM_020964.3(EPG5):c.5869+18C>T rs202231195 0.00077
NM_020964.3(EPG5):c.4502G>A (p.Arg1501Gln) rs186784974 0.00076
NM_020964.3(EPG5):c.2426C>T (p.Thr809Ile) rs181383334 0.00074
NM_020964.3(EPG5):c.4581A>G (p.Leu1527=) rs200617597 0.00073
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606 0.00067
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=) rs199648768 0.00065
NM_020964.3(EPG5):c.2719-19T>A rs200251297 0.00064
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622 0.00062
NM_020964.3(EPG5):c.3240-16C>T rs376836914 0.00060
NM_020964.3(EPG5):c.2303A>G (p.Asn768Ser) rs61736031 0.00059
NM_020964.3(EPG5):c.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.7165T>G (p.Leu2389Val) rs199602966 0.00050
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=) rs141282194 0.00048
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln) rs200151675 0.00044
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.4791C>T (p.Ala1597=) rs368086133 0.00041
NM_020964.3(EPG5):c.3898G>A (p.Val1300Ile) rs201495638 0.00040
NM_020964.3(EPG5):c.5680A>G (p.Ile1894Val) rs138221907 0.00040
NM_020964.3(EPG5):c.3385-18T>C rs375026896 0.00039
NM_020964.3(EPG5):c.1461C>T (p.Pro487=) rs142675465 0.00038
NM_020964.3(EPG5):c.4544C>T (p.Thr1515Met) rs199811412 0.00038
NM_020964.3(EPG5):c.3313C>T (p.His1105Tyr) rs200305944 0.00037
NM_020964.3(EPG5):c.6480G>A (p.Ser2160=) rs142224776 0.00034
NM_020964.3(EPG5):c.6787C>G (p.His2263Asp) rs201639757 0.00034
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln) rs200079588 0.00033
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.3551G>A (p.Cys1184Tyr) rs1166280208 0.00030
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268 0.00030
NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp) rs78690150 0.00029
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val) rs148241618 0.00028
NM_020964.3(EPG5):c.4258G>A (p.Asp1420Asn) rs377196959 0.00026
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994 0.00025
NM_020964.3(EPG5):c.5310T>C (p.Asp1770=) rs376326191 0.00025
NM_020964.3(EPG5):c.1609G>A (p.Glu537Lys) rs183660877 0.00023
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile) rs369120436 0.00022
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.7009+20C>T rs367613516 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.33C>G (p.Ala11=) rs539082493 0.00019
NM_020964.3(EPG5):c.4522C>T (p.Pro1508Ser) rs199718702 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr) rs201213000 0.00019
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys) rs200744548 0.00018
NM_020964.3(EPG5):c.4154C>G (p.Ser1385Cys) rs200040634 0.00018
NM_020964.3(EPG5):c.3235G>A (p.Glu1079Lys) rs199586840 0.00017
NM_020964.3(EPG5):c.4222A>G (p.Ile1408Val) rs369984684 0.00017
NM_020964.3(EPG5):c.6147C>T (p.Tyr2049=) rs371980254 0.00017
NM_020964.3(EPG5):c.4650C>T (p.Thr1550=) rs748583309 0.00016
NM_020964.3(EPG5):c.494C>T (p.Pro165Leu) rs201402291 0.00016
NM_020964.3(EPG5):c.6855A>T (p.Ala2285=) rs375424781 0.00016
NM_020964.3(EPG5):c.4802C>T (p.Thr1601Met) rs200576622 0.00015
NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met) rs188800635 0.00015
NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile) rs370311674 0.00015
NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn) rs554975133 0.00015
NM_020964.3(EPG5):c.7059G>A (p.Gln2353=) rs368846817 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.3280G>A (p.Gly1094Ser) rs200966889 0.00014
NM_020964.3(EPG5):c.65A>C (p.Glu22Ala) rs775124308 0.00014
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142 0.00014
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104 0.00014
NM_020964.3(EPG5):c.2100-7C>T rs191189597 0.00013
NM_020964.3(EPG5):c.3968C>T (p.Pro1323Leu) rs143970247 0.00013
NM_020964.3(EPG5):c.6256T>G (p.Leu2086Val) rs200152090 0.00013
NM_020964.3(EPG5):c.7311C>T (p.Ser2437=) rs377487870 0.00013
NM_020964.3(EPG5):c.2413-16C>T rs550407878 0.00012
NM_020964.3(EPG5):c.2718+3A>G rs374002995 0.00012
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094 0.00012
NM_020964.3(EPG5):c.1009-10_1009-9dup rs148293118 0.00011
NM_020964.3(EPG5):c.2374G>A (p.Glu792Lys) rs188738484 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.5273A>G (p.Asn1758Ser) rs143519809 0.00011
NM_020964.3(EPG5):c.5492G>A (p.Ser1831Asn) rs774570206 0.00011
NM_020964.3(EPG5):c.6069T>C (p.Asp2023=) rs372121696 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.1830G>A (p.Met610Ile) rs200214318 0.00010
NM_020964.3(EPG5):c.2304T>C (p.Asn768=) rs200019611 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.2373C>T (p.Asp791=) rs552419530 0.00009
NM_020964.3(EPG5):c.2761T>C (p.Leu921=) rs376268597 0.00009
NM_020964.3(EPG5):c.3791C>T (p.Ala1264Val) rs374324769 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.57A>G (p.Lys19=) rs756684551 0.00009
NM_020964.3(EPG5):c.5869+12C>T rs375719080 0.00009
NM_020964.3(EPG5):c.586G>A (p.Gly196Ser) rs565743896 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.6951G>A (p.Ala2317=) rs369725381 0.00009
NM_020964.3(EPG5):c.1462G>A (p.Ala488Thr) rs764382463 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.5541C>T (p.Ser1847=) rs775740914 0.00008
NM_020964.3(EPG5):c.6225+18G>A rs557371930 0.00008
NM_020964.3(EPG5):c.1119G>T (p.Glu373Asp) rs371484691 0.00007
NM_020964.3(EPG5):c.1252+5G>C rs375372125 0.00007
NM_020964.3(EPG5):c.1395C>T (p.Ser465=) rs374133150 0.00007
NM_020964.3(EPG5):c.1418C>T (p.Pro473Leu) rs189145719 0.00007
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194 0.00007
NM_020964.3(EPG5):c.31G>A (p.Ala11Thr) rs375661582 0.00007
NM_020964.3(EPG5):c.350C>T (p.Ala117Val) rs372840001 0.00007
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00007
NM_020964.3(EPG5):c.4517C>T (p.Pro1506Leu) rs751816092 0.00007
NM_020964.3(EPG5):c.4621C>T (p.Leu1541=) rs1321980926 0.00007
NM_020964.3(EPG5):c.4747C>T (p.His1583Tyr) rs535029628 0.00007
NM_020964.3(EPG5):c.6462T>C (p.His2154=) rs374657166 0.00007
NM_020964.3(EPG5):c.6621+20A>G rs371591029 0.00007
NM_020964.3(EPG5):c.1081C>T (p.Leu361=) rs777877311 0.00006
NM_020964.3(EPG5):c.1293A>G (p.Gln431=) rs753444846 0.00006
NM_020964.3(EPG5):c.1391T>C (p.Val464Ala) rs572513821 0.00006
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln) rs142601828 0.00006
NM_020964.3(EPG5):c.1867C>A (p.Leu623Ile) rs572756147 0.00006
NM_020964.3(EPG5):c.1948A>G (p.Thr650Ala) rs371884344 0.00006
NM_020964.3(EPG5):c.2529A>G (p.Gln843=) rs780942299 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.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.1043A>G (p.Tyr348Cys) rs761594653 0.00005
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113 0.00005
NM_020964.3(EPG5):c.1857A>T (p.Ser619=) rs543352996 0.00005
NM_020964.3(EPG5):c.2079A>G (p.Leu693=) rs769308318 0.00005
NM_020964.3(EPG5):c.2233G>A (p.Ala745Thr) rs564487069 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.2958G>A (p.Pro986=) rs576591054 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.3556C>G (p.Gln1186Glu) rs780348341 0.00005
NM_020964.3(EPG5):c.4646+12C>A rs577902553 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.5953C>T (p.Arg1985Trp) rs146306069 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.7017C>T (p.Leu2339=) rs2048570118 0.00005
NM_020964.3(EPG5):c.7068G>A (p.Glu2356=) rs759227711 0.00005
NM_020964.3(EPG5):c.7227-15C>T rs755680208 0.00005
NM_020964.3(EPG5):c.7458C>T (p.Ala2486=) rs374322299 0.00005
NM_020964.3(EPG5):c.876G>A (p.Glu292=) rs372088946 0.00005
NM_020964.3(EPG5):c.1009G>A (p.Gly337Ser) rs1195446026 0.00004
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.2073T>C (p.Ala691=) rs748747353 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.3093C>T (p.Gly1031=) rs757078802 0.00004
NM_020964.3(EPG5):c.328A>G (p.Arg110Gly) rs761327582 0.00004
NM_020964.3(EPG5):c.3942G>A (p.Lys1314=) rs571017810 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.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.6428G>A (p.Ser2143Asn) rs758294478 0.00004
NM_020964.3(EPG5):c.6519G>A (p.Pro2173=) rs762400421 0.00004
NM_020964.3(EPG5):c.6621+13G>A rs781195592 0.00004
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu) rs776541656 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.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.7230C>T (p.Ser2410=) rs556306651 0.00004
NM_020964.3(EPG5):c.7302G>A (p.Gln2434=) rs140297677 0.00004
NM_020964.3(EPG5):c.7323A>G (p.Glu2441=) rs984105833 0.00004
NM_020964.3(EPG5):c.7442+17C>G rs200371582 0.00004
NM_020964.3(EPG5):c.968G>T (p.Ser323Ile) rs199732702 0.00004
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00003
NM_020964.3(EPG5):c.1250G>A (p.Arg417Gln) rs369094716 0.00003
NM_020964.3(EPG5):c.1511A>C (p.His504Pro) rs754120095 0.00003
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998 0.00003
NM_020964.3(EPG5):c.1811C>G (p.Thr604Arg) rs373011809 0.00003
NM_020964.3(EPG5):c.1903C>T (p.Arg635Cys) rs764895705 0.00003
NM_020964.3(EPG5):c.2412+14G>T rs775793154 0.00003
NM_020964.3(EPG5):c.2424C>T (p.Val808=) rs376583998 0.00003
NM_020964.3(EPG5):c.2571T>C (p.Phe857=) rs746667054 0.00003
NM_020964.3(EPG5):c.2581C>T (p.Pro861Ser) rs528589226 0.00003
NM_020964.3(EPG5):c.2619G>A (p.Ala873=) rs765818036 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.2838+13C>G rs770355758 0.00003
NM_020964.3(EPG5):c.290C>T (p.Thr97Met) rs371113007 0.00003
NM_020964.3(EPG5):c.2940C>T (p.Asn980=) rs753235376 0.00003
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met) rs890699630 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.310A>G (p.Lys104Glu) rs759089487 0.00003
NM_020964.3(EPG5):c.3351G>A (p.Gly1117=) rs371129822 0.00003
NM_020964.3(EPG5):c.338T>G (p.Val113Gly) rs772420839 0.00003
NM_020964.3(EPG5):c.3472C>T (p.Leu1158Phe) rs201959853 0.00003
NM_020964.3(EPG5):c.3693+8A>G rs367663640 0.00003
NM_020964.3(EPG5):c.4205+9G>A rs769965368 0.00003
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys) rs749547713 0.00003
NM_020964.3(EPG5):c.4233A>G (p.Leu1411=) rs754923921 0.00003
NM_020964.3(EPG5):c.4400C>T (p.Thr1467Ile) rs951246520 0.00003
NM_020964.3(EPG5):c.4443C>T (p.Ser1481=) rs201117195 0.00003
NM_020964.3(EPG5):c.4596C>T (p.Asp1532=) rs201777260 0.00003
NM_020964.3(EPG5):c.5027T>C (p.Ile1676Thr) rs368012788 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.5251G>A (p.Val1751Met) rs997958397 0.00003
NM_020964.3(EPG5):c.5329G>A (p.Ala1777Thr) rs777063993 0.00003
NM_020964.3(EPG5):c.5785A>G (p.Thr1929Ala) rs968834469 0.00003
NM_020964.3(EPG5):c.5869+13T>C rs750598723 0.00003
NM_020964.3(EPG5):c.5869+17G>A rs781258407 0.00003
NM_020964.3(EPG5):c.5943-19G>A rs374965833 0.00003
NM_020964.3(EPG5):c.6050-3T>C rs778407210 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.674G>C (p.Gly225Ala) rs200910594 0.00003
NM_020964.3(EPG5):c.6769A>G (p.Met2257Val) rs201722679 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.7009+15T>C rs538932953 0.00003
NM_020964.3(EPG5):c.7156G>A (p.Glu2386Lys) rs373944025 0.00003
NM_020964.3(EPG5):c.7172A>G (p.Asn2391Ser) rs752571576 0.00003
NM_020964.3(EPG5):c.7287C>T (p.Leu2429=) rs771719040 0.00003
NM_020964.3(EPG5):c.7557+19G>A rs563721463 0.00003
NM_020964.3(EPG5):c.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.1005A>C (p.Val335=) rs373730714 0.00002
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.1252+17G>A rs1302612297 0.00002
NM_020964.3(EPG5):c.1338T>G (p.Val446=) rs2512091383 0.00002
NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter) rs775499286 0.00002
NM_020964.3(EPG5):c.1415G>C (p.Cys472Ser) rs772989307 0.00002
NM_020964.3(EPG5):c.150T>G (p.Ser50=) rs368060363 0.00002
NM_020964.3(EPG5):c.1542A>G (p.Gln514=) rs375859542 0.00002
NM_020964.3(EPG5):c.1571+3A>G rs779273987 0.00002
NM_020964.3(EPG5):c.1612C>T (p.Arg538Trp) rs372785168 0.00002
NM_020964.3(EPG5):c.1652C>T (p.Thr551Met) rs368530443 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.1894A>G (p.Asn632Asp) rs765831533 0.00002
NM_020964.3(EPG5):c.1943+4A>G rs368879665 0.00002
NM_020964.3(EPG5):c.2124C>T (p.Ser708=) rs571198688 0.00002
NM_020964.3(EPG5):c.2181G>A (p.Met727Ile) rs370714624 0.00002
NM_020964.3(EPG5):c.2196C>T (p.Ser732=) rs775095237 0.00002
NM_020964.3(EPG5):c.2257+11G>A rs375688315 0.00002
NM_020964.3(EPG5):c.2338G>A (p.Ala780Thr) rs752641749 0.00002
NM_020964.3(EPG5):c.2462G>A (p.Arg821Gln) rs776940588 0.00002
NM_020964.3(EPG5):c.2700T>C (p.Asn900=) rs757822003 0.00002
NM_020964.3(EPG5):c.2713A>G (p.Lys905Glu) rs369921890 0.00002
NM_020964.3(EPG5):c.29_34dup (p.Arg10_Ala11dup) rs2051286087 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.3422G>A (p.Gly1141Asp) rs776414813 0.00002
NM_020964.3(EPG5):c.3426C>T (p.Pro1142=) rs777286012 0.00002
NM_020964.3(EPG5):c.3470A>G (p.His1157Arg) rs767595730 0.00002
NM_020964.3(EPG5):c.3576A>G (p.Gln1192=) rs200785029 0.00002
NM_020964.3(EPG5):c.3583-18C>T rs1451009011 0.00002
NM_020964.3(EPG5):c.3583-7G>C rs1372657836 0.00002
NM_020964.3(EPG5):c.3683C>T (p.Thr1228Met) rs556565796 0.00002
NM_020964.3(EPG5):c.36G>A (p.Lys12=) rs567983156 0.00002
NM_020964.3(EPG5):c.3816+17T>A rs768639138 0.00002
NM_020964.3(EPG5):c.3816+4C>A rs1348269939 0.00002
NM_020964.3(EPG5):c.3852A>G (p.Pro1284=) rs748870233 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.4474+20G>A rs756686006 0.00002
NM_020964.3(EPG5):c.4521G>C (p.Gln1507His) rs758611855 0.00002
NM_020964.3(EPG5):c.4646+18C>T rs778143898 0.00002
NM_020964.3(EPG5):c.4687G>T (p.Gly1563Cys) rs751554863 0.00002
NM_020964.3(EPG5):c.4695G>A (p.Leu1565=) rs1346489567 0.00002
NM_020964.3(EPG5):c.4705A>G (p.Met1569Val) rs568568831 0.00002
NM_020964.3(EPG5):c.4770C>T (p.Ser1590=) rs199832672 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.4837A>G (p.Ile1613Val) rs746065186 0.00002
NM_020964.3(EPG5):c.4953-14A>G rs1212913507 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.5203A>G (p.Thr1735Ala) rs2145444248 0.00002
NM_020964.3(EPG5):c.5238G>A (p.Leu1746=) rs764180133 0.00002
NM_020964.3(EPG5):c.5307C>T (p.Phe1769=) rs369940983 0.00002
NM_020964.3(EPG5):c.5413G>C (p.Glu1805Gln) rs758014247 0.00002
NM_020964.3(EPG5):c.5432T>G (p.Phe1811Cys) rs759019063 0.00002
NM_020964.3(EPG5):c.5472C>T (p.Tyr1824=) rs909725535 0.00002
NM_020964.3(EPG5):c.5518+15T>A rs372157962 0.00002
NM_020964.3(EPG5):c.5518+7G>T rs1264216973 0.00002
NM_020964.3(EPG5):c.5799C>T (p.Tyr1933=) rs1021800873 0.00002
NM_020964.3(EPG5):c.5819A>T (p.Asp1940Val) rs765081514 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.6397C>T (p.Leu2133=) rs569509306 0.00002
NM_020964.3(EPG5):c.6405C>T (p.Asp2135=) rs529733045 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.6767-19G>A rs1241299107 0.00002
NM_020964.3(EPG5):c.6865C>T (p.Arg2289Trp) rs532561653 0.00002
NM_020964.3(EPG5):c.7065C>T (p.Pro2355=) rs551726903 0.00002
NM_020964.3(EPG5):c.7158A>G (p.Glu2386=) rs745920832 0.00002
NM_020964.3(EPG5):c.7191C>T (p.Leu2397=) rs766126331 0.00002
NM_020964.3(EPG5):c.7226+14C>T rs772073357 0.00002
NM_020964.3(EPG5):c.7410T>A (p.Ile2470=) rs768733850 0.00002
NM_020964.3(EPG5):c.7420C>T (p.Arg2474Trp) rs1188184108 0.00002
NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu) rs370315826 0.00002
NM_020964.3(EPG5):c.7511G>A (p.Arg2504His) rs979554550 0.00002
NM_020964.3(EPG5):c.7542C>T (p.Thr2514=) rs776306978 0.00002
NM_020964.3(EPG5):c.7692C>T (p.Leu2564=) rs747189808 0.00002
NM_020964.3(EPG5):c.7707T>C (p.Tyr2569=) rs750243664 0.00002
NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly) rs1171989598 0.00002
NM_020964.3(EPG5):c.78T>C (p.Tyr26=) rs1254842606 0.00002
NM_020964.3(EPG5):c.822A>G (p.Ser274=) rs2512124160 0.00002
NM_020964.3(EPG5):c.970C>T (p.Arg324Trp) rs779260764 0.00002
NM_020964.3(EPG5):c.1008+16G>A rs938976280 0.00001
NM_020964.3(EPG5):c.1008+18C>G rs753721246 0.00001
NM_020964.3(EPG5):c.1009-17T>A rs369721234 0.00001
NM_020964.3(EPG5):c.1009-20A>G rs1171564791 0.00001
NM_020964.3(EPG5):c.1009-9C>T rs1229012060 0.00001
NM_020964.3(EPG5):c.1014C>T (p.Ile338=) rs1318299870 0.00001
NM_020964.3(EPG5):c.103A>G (p.Ser35Gly) rs746311646 0.00001
NM_020964.3(EPG5):c.1056A>G (p.Gln352=) rs564612819 0.00001
NM_020964.3(EPG5):c.1070A>G (p.Asn357Ser) rs777200087 0.00001
NM_020964.3(EPG5):c.1098G>A (p.Lys366=) rs532788286 0.00001
NM_020964.3(EPG5):c.1152T>C (p.Tyr384=) rs775196944 0.00001
NM_020964.3(EPG5):c.1161G>T (p.Val387=) rs1245845621 0.00001
NM_020964.3(EPG5):c.1169G>C (p.Arg390Thr) rs2143746816 0.00001
NM_020964.3(EPG5):c.1189A>G (p.Ile397Val) rs968213343 0.00001
NM_020964.3(EPG5):c.123A>G (p.Lys41=) rs1310621423 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.1270A>G (p.Ser424Gly) rs758279694 0.00001
NM_020964.3(EPG5):c.1312G>A (p.Val438Ile) rs750946464 0.00001
NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu) rs200123131 0.00001
NM_020964.3(EPG5):c.1358A>T (p.His453Leu) rs568433236 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.1390-6G>A rs1416055166 0.00001
NM_020964.3(EPG5):c.1446T>C (p.His482=) rs1345031210 0.00001
NM_020964.3(EPG5):c.1540C>A (p.Gln514Lys) rs759168281 0.00001
NM_020964.3(EPG5):c.1545C>G (p.Ser515=) rs1290525573 0.00001
NM_020964.3(EPG5):c.1590G>A (p.Met530Ile) rs1452845374 0.00001
NM_020964.3(EPG5):c.1608C>T (p.Ser536=) rs527293119 0.00001
NM_020964.3(EPG5):c.1620A>G (p.Pro540=) rs752639374 0.00001
NM_020964.3(EPG5):c.1626C>T (p.Ser542=) rs904283996 0.00001
NM_020964.3(EPG5):c.1632G>A (p.Gly544=) rs2050789973 0.00001
NM_020964.3(EPG5):c.1662C>T (p.Asp554=) rs1286762760 0.00001
NM_020964.3(EPG5):c.1677+17G>T rs148486293 0.00001
NM_020964.3(EPG5):c.1678-6C>G rs753777979 0.00001
NM_020964.3(EPG5):c.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.1719T>C (p.Asp573=) rs764693845 0.00001
NM_020964.3(EPG5):c.1749C>T (p.Pro583=) rs746257883 0.00001
NM_020964.3(EPG5):c.1792+15C>T rs2050732802 0.00001
NM_020964.3(EPG5):c.1793-19T>C rs763642437 0.00001
NM_020964.3(EPG5):c.1816A>G (p.Arg606Gly) rs2050711394 0.00001
NM_020964.3(EPG5):c.1818A>G (p.Arg606=) rs1322081010 0.00001
NM_020964.3(EPG5):c.1873G>T (p.Ala625Ser) rs757958571 0.00001
NM_020964.3(EPG5):c.1896T>C (p.Asn632=) rs372581222 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.1944-9C>T rs2050621581 0.00001
NM_020964.3(EPG5):c.1949C>T (p.Thr650Ile) rs1342520686 0.00001
NM_020964.3(EPG5):c.1970A>G (p.His657Arg) rs1876122568 0.00001
NM_020964.3(EPG5):c.1971T>C (p.His657=) rs1390637838 0.00001
NM_020964.3(EPG5):c.1976C>T (p.Ala659Val) rs1167758099 0.00001
NM_020964.3(EPG5):c.1977A>C (p.Ala659=) rs1568173471 0.00001
NM_020964.3(EPG5):c.1980G>A (p.Gln660=) rs1447381142 0.00001
NM_020964.3(EPG5):c.1989C>T (p.Ser663=) rs368887661 0.00001
NM_020964.3(EPG5):c.1992T>C (p.His664=) rs377198936 0.00001
NM_020964.3(EPG5):c.1998A>G (p.Gln666=) rs757641552 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_020964.3(EPG5):c.2016A>G (p.Gln672=) rs762927573 0.00001
NM_020964.3(EPG5):c.2052T>C (p.Phe684=) rs1431174470 0.00001
NM_020964.3(EPG5):c.2082T>A (p.His694Gln) rs929769017 0.00001
NM_020964.3(EPG5):c.2099+11C>T rs200129838 0.00001
NM_020964.3(EPG5):c.2099+12A>G rs534978097 0.00001
NM_020964.3(EPG5):c.2099+14A>T rs1388070695 0.00001
NM_020964.3(EPG5):c.2105G>A (p.Gly702Asp) rs775030892 0.00001
NM_020964.3(EPG5):c.2107A>G (p.Ile703Val) rs769257326 0.00001
NM_020964.3(EPG5):c.2127G>T (p.Glu709Asp) rs950420567 0.00001
NM_020964.3(EPG5):c.2158C>T (p.Leu720=) rs1474079806 0.00001
NM_020964.3(EPG5):c.2188G>C (p.Val730Leu) rs376495076 0.00001
NM_020964.3(EPG5):c.2190G>A (p.Val730=) rs1312825565 0.00001
NM_020964.3(EPG5):c.2193G>C (p.Glu731Asp) rs1218574370 0.00001
NM_020964.3(EPG5):c.2217C>T (p.Ser739=) rs1017399233 0.00001
NM_020964.3(EPG5):c.2245C>G (p.Gln749Glu) rs773623294 0.00001
NM_020964.3(EPG5):c.2257+13C>T rs1022986578 0.00001
NM_020964.3(EPG5):c.2257+19G>A rs1412343479 0.00001
NM_020964.3(EPG5):c.2258-11T>C rs1014193138 0.00001
NM_020964.3(EPG5):c.2258-12A>G rs2145819905 0.00001
NM_020964.3(EPG5):c.2261C>G (p.Pro754Arg) rs1163010781 0.00001
NM_020964.3(EPG5):c.2262A>G (p.Pro754=) rs1015625157 0.00001
NM_020964.3(EPG5):c.2274C>T (p.Thr758=) rs1280940380 0.00001
NM_020964.3(EPG5):c.2316G>A (p.Glu772=) rs1306800052 0.00001
NM_020964.3(EPG5):c.2348C>T (p.Ala783Val) rs1330678250 0.00001
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342 0.00001
NM_020964.3(EPG5):c.2364C>T (p.Thr788=) rs753457746 0.00001
NM_020964.3(EPG5):c.2407T>C (p.Tyr803His) rs762353654 0.00001
NM_020964.3(EPG5):c.2413-11C>A rs2050340703 0.00001
NM_020964.3(EPG5):c.2413-12C>T rs371292227 0.00001
NM_020964.3(EPG5):c.2413-14T>C rs1412984034 0.00001
NM_020964.3(EPG5):c.2420A>C (p.Tyr807Ser) rs1436830345 0.00001
NM_020964.3(EPG5):c.2421T>C (p.Tyr807=) rs994782777 0.00001
NM_020964.3(EPG5):c.2433T>C (p.Ser811=) rs764750828 0.00001
NM_020964.3(EPG5):c.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.2507C>G (p.Ser836Cys) rs1312845136 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.2548G>A (p.Gly850Arg) rs199547969 0.00001
NM_020964.3(EPG5):c.2553+18G>A rs776694155 0.00001
NM_020964.3(EPG5):c.255C>T (p.Leu85=) rs201072808 0.00001
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser) rs368321414 0.00001
NM_020964.3(EPG5):c.2626C>T (p.Arg876Trp) rs755283620 0.00001
NM_020964.3(EPG5):c.2648A>G (p.Asn883Ser) rs767545552 0.00001
NM_020964.3(EPG5):c.2679T>C (p.Cys893=) rs1218990203 0.00001
NM_020964.3(EPG5):c.2682T>C (p.Val894=) rs776504642 0.00001
NM_020964.3(EPG5):c.2684T>C (p.Ile895Thr) rs757009134 0.00001
NM_020964.3(EPG5):c.270A>G (p.Ile90Met) rs374098492 0.00001
NM_020964.3(EPG5):c.2718+15C>A rs2050252535 0.00001
NM_020964.3(EPG5):c.2719-11C>T rs1355537575 0.00001
NM_020964.3(EPG5):c.2724C>A (p.Thr908=) rs1242696420 0.00001
NM_020964.3(EPG5):c.2745C>T (p.Val915=) rs1186493680 0.00001
NM_020964.3(EPG5):c.2751T>C (p.Ala917=) rs1599580570 0.00001
NM_020964.3(EPG5):c.2758G>T (p.Ala920Ser) rs751746856 0.00001
NM_020964.3(EPG5):c.2763A>G (p.Leu921=) rs1462083363 0.00001
NM_020964.3(EPG5):c.276T>C (p.Asn92=) rs755000860 0.00001
NM_020964.3(EPG5):c.2776G>A (p.Ala926Thr) rs371695724 0.00001
NM_020964.3(EPG5):c.2784G>A (p.Gln928=) rs1252516727 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.2871A>G (p.Gly957=) rs1324095972 0.00001
NM_020964.3(EPG5):c.2898A>G (p.Gln966=) rs777041802 0.00001
NM_020964.3(EPG5):c.2904C>G (p.Ala968=) rs1454534885 0.00001
NM_020964.3(EPG5):c.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.2976C>A (p.Pro992=) rs1306855569 0.00001
NM_020964.3(EPG5):c.2982C>T (p.Ser994=) rs201209457 0.00001
NM_020964.3(EPG5):c.3027C>G (p.Leu1009=) rs771404859 0.00001
NM_020964.3(EPG5):c.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.3098+14C>T rs1250164286 0.00001
NM_020964.3(EPG5):c.3098+15T>C rs758224026 0.00001
NM_020964.3(EPG5):c.3098+18A>T rs752320871 0.00001
NM_020964.3(EPG5):c.3111C>T (p.Phe1037=) rs749530881 0.00001
NM_020964.3(EPG5):c.3133T>C (p.Leu1045=) rs2050066407 0.00001
NM_020964.3(EPG5):c.3152C>T (p.Ser1051Leu) rs746885334 0.00001
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile) rs144908324 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.3307G>T (p.Val1103Phe) rs1037521116 0.00001
NM_020964.3(EPG5):c.3357C>T (p.Asn1119=) rs202137313 0.00001
NM_020964.3(EPG5):c.3384+16G>A rs1319186399 0.00001
NM_020964.3(EPG5):c.3384+17C>T rs1308204102 0.00001
NM_020964.3(EPG5):c.3384+3G>A rs1235955647 0.00001
NM_020964.3(EPG5):c.3385-13C>T rs753163836 0.00001
NM_020964.3(EPG5):c.3385-7T>C rs571924332 0.00001
NM_020964.3(EPG5):c.3397G>C (p.Val1133Leu) rs1196176370 0.00001
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg) rs375017695 0.00001
NM_020964.3(EPG5):c.3410C>T (p.Pro1137Leu) rs2050027099 0.00001
NM_020964.3(EPG5):c.3427G>A (p.Val1143Ile) rs771510931 0.00001
NM_020964.3(EPG5):c.3435G>A (p.Val1145=) rs963294372 0.00001
NM_020964.3(EPG5):c.343G>A (p.Asp115Asn) rs768905605 0.00001
NM_020964.3(EPG5):c.3441G>A (p.Glu1147=) rs755321821 0.00001
NM_020964.3(EPG5):c.3455C>G (p.Ala1152Gly) rs1463142683 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.3505A>T (p.Met1169Leu) rs747668301 0.00001
NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg) rs2511821000 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.3583-6G>A rs747253513 0.00001
NM_020964.3(EPG5):c.3583-8C>T rs757359611 0.00001
NM_020964.3(EPG5):c.3585T>C (p.Asn1195=) rs1482375160 0.00001
NM_020964.3(EPG5):c.3597C>T (p.Tyr1199=) rs1329906309 0.00001
NM_020964.3(EPG5):c.3598C>T (p.His1200Tyr) rs758515302 0.00001
NM_020964.3(EPG5):c.3632G>A (p.Ser1211Asn) rs571987859 0.00001
NM_020964.3(EPG5):c.3651C>T (p.Asn1217=) rs776913369 0.00001
NM_020964.3(EPG5):c.3652A>G (p.Ile1218Val) rs546759895 0.00001
NM_020964.3(EPG5):c.3684G>C (p.Thr1228=) rs1278860724 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.3694-4A>G rs752369112 0.00001
NM_020964.3(EPG5):c.369C>T (p.His123=) rs756190726 0.00001
NM_020964.3(EPG5):c.3721A>G (p.Met1241Val) rs1258237376 0.00001
NM_020964.3(EPG5):c.3747C>T (p.Ser1249=) rs370662035 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.379A>G (p.Asn127Asp) rs758174305 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.3816+11C>G rs887522742 0.00001
NM_020964.3(EPG5):c.3817-9T>G rs1211673128 0.00001
NM_020964.3(EPG5):c.381T>C (p.Asn127=) rs150022709 0.00001
NM_020964.3(EPG5):c.3825G>A (p.Gln1275=) rs771780755 0.00001
NM_020964.3(EPG5):c.3847G>A (p.Val1283Met) rs377030279 0.00001
NM_020964.3(EPG5):c.3854C>T (p.Ser1285Phe) rs779751217 0.00001
NM_020964.3(EPG5):c.3886C>G (p.His1296Asp) rs757564770 0.00001
NM_020964.3(EPG5):c.390T>C (p.Thr130=) rs752477264 0.00001
NM_020964.3(EPG5):c.393A>G (p.Lys131=) rs754739319 0.00001
NM_020964.3(EPG5):c.3969G>A (p.Pro1323=) rs373218143 0.00001
NM_020964.3(EPG5):c.3983+17T>C rs780561691 0.00001
NM_020964.3(EPG5):c.3984-10G>T rs1382561435 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_020964.3(EPG5):c.4023A>G (p.Gln1341=) rs372736170 0.00001
NM_020964.3(EPG5):c.4027C>T (p.Pro1343Ser) rs2049872714 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.4066T>C (p.Leu1356=) rs1353067965 0.00001
NM_020964.3(EPG5):c.4069A>C (p.Thr1357Pro) rs374649165 0.00001
NM_020964.3(EPG5):c.4071C>T (p.Thr1357=) rs763870509 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.4136G>T (p.Gly1379Val) rs749548903 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.4173G>T (p.Leu1391=) rs1478022515 0.00001
NM_020964.3(EPG5):c.4186C>T (p.Leu1396=) rs2049867434 0.00001
NM_020964.3(EPG5):c.4191C>T (p.His1397=) rs774790764 0.00001
NM_020964.3(EPG5):c.4205+3G>T rs1322093557 0.00001
NM_020964.3(EPG5):c.4205+7A>T rs376652885 0.00001
NM_020964.3(EPG5):c.4206-15G>A rs1283815764 0.00001
NM_020964.3(EPG5):c.4214A>G (p.Asn1405Ser) rs374012879 0.00001
NM_020964.3(EPG5):c.4260T>C (p.Asp1420=) rs1157636919 0.00001
NM_020964.3(EPG5):c.4284G>A (p.Lys1428=) rs895491529 0.00001
NM_020964.3(EPG5):c.4286A>G (p.His1429Arg) rs1329572416 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+13C>T rs1286993357 0.00001
NM_020964.3(EPG5):c.4329+14C>A rs2049795695 0.00001
NM_020964.3(EPG5):c.4329+20T>G rs963727204 0.00001
NM_020964.3(EPG5):c.4329+3G>A rs888738053 0.00001
NM_020964.3(EPG5):c.4330-14T>C rs1403732221 0.00001
NM_020964.3(EPG5):c.4361G>A (p.Arg1454His) rs766875773 0.00001
NM_020964.3(EPG5):c.4374G>A (p.Glu1458=) rs1443970703 0.00001
NM_020964.3(EPG5):c.437C>T (p.Ser146Leu) rs368719987 0.00001
NM_020964.3(EPG5):c.4385C>G (p.Thr1462Ser) rs750614729 0.00001
NM_020964.3(EPG5):c.4413T>C (p.Leu1471=) rs774537425 0.00001
NM_020964.3(EPG5):c.4474+19T>A rs1202832069 0.00001
NM_020964.3(EPG5):c.4474+9T>C rs754492157 0.00001
NM_020964.3(EPG5):c.4475-20A>G rs1181016789 0.00001
NM_020964.3(EPG5):c.4480G>A (p.Glu1494Lys) rs771727510 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.4514C>T (p.Ala1505Val) rs757513321 0.00001
NM_020964.3(EPG5):c.4520A>G (p.Gln1507Arg) rs764231107 0.00001
NM_020964.3(EPG5):c.4527C>T (p.Pro1509=) rs765272578 0.00001
NM_020964.3(EPG5):c.4545G>A (p.Thr1515=) rs768482660 0.00001
NM_020964.3(EPG5):c.4549C>T (p.Pro1517Ser) rs369136227 0.00001
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe) rs199978382 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.4636C>T (p.Gln1546Ter) rs1339060037 0.00001
NM_020964.3(EPG5):c.4646+10T>C rs776197663 0.00001
NM_020964.3(EPG5):c.4646+19A>G rs1446031119 0.00001
NM_020964.3(EPG5):c.4646+9A>G rs745305665 0.00001
NM_020964.3(EPG5):c.4654G>A (p.Ala1552Thr) rs372801548 0.00001
NM_020964.3(EPG5):c.4659T>C (p.Leu1553=) rs1224300680 0.00001
NM_020964.3(EPG5):c.4660C>T (p.Arg1554Trp) rs749496135 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.4680T>C (p.Ala1560=) rs1286457057 0.00001
NM_020964.3(EPG5):c.468C>G (p.Pro156=) rs2050991444 0.00001
NM_020964.3(EPG5):c.471A>G (p.Gln157=) rs200644937 0.00001
NM_020964.3(EPG5):c.4726C>T (p.Arg1576Cys) rs1261427390 0.00001
NM_020964.3(EPG5):c.4727G>A (p.Arg1576His) rs368539419 0.00001
NM_020964.3(EPG5):c.4738A>G (p.Thr1580Ala) rs553484474 0.00001
NM_020964.3(EPG5):c.4762G>A (p.Gly1588Ser) rs762287177 0.00001
NM_020964.3(EPG5):c.4823A>G (p.His1608Arg) rs1426923295 0.00001
NM_020964.3(EPG5):c.4845A>G (p.Gln1615=) rs771092981 0.00001
NM_020964.3(EPG5):c.4916T>A (p.Ile1639Asn) rs375030392 0.00001
NM_020964.3(EPG5):c.4952C>T (p.Thr1651Met) rs532605075 0.00001
NM_020964.3(EPG5):c.4965T>G (p.Asn1655Lys) rs2049253483 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.5007C>T (p.Gly1669=) rs760786906 0.00001
NM_020964.3(EPG5):c.5028T>C (p.Ile1676=) rs1346661334 0.00001
NM_020964.3(EPG5):c.5044G>A (p.Asp1682Asn) rs745726464 0.00001
NM_020964.3(EPG5):c.5047G>C (p.Glu1683Gln) rs1398320709 0.00001
NM_020964.3(EPG5):c.5087C>T (p.Ser1696Leu) rs766622192 0.00001
NM_020964.3(EPG5):c.5109+9A>C rs189883488 0.00001
NM_020964.3(EPG5):c.5110-16T>C rs1382462163 0.00001
NM_020964.3(EPG5):c.5110-18C>T rs1013136076 0.00001
NM_020964.3(EPG5):c.5110-1G>C rs2511609422 0.00001
NM_020964.3(EPG5):c.5157C>T (p.Thr1719=) rs1258923662 0.00001
NM_020964.3(EPG5):c.5161C>T (p.Leu1721=) rs764123084 0.00001
NM_020964.3(EPG5):c.5168A>G (p.Asn1723Ser) rs1365692737 0.00001
NM_020964.3(EPG5):c.5213C>T (p.Ala1738Val) rs768237272 0.00001
NM_020964.3(EPG5):c.5244G>A (p.Glu1748=) rs376264524 0.00001
NM_020964.3(EPG5):c.5289C>T (p.Phe1763=) rs2511608075 0.00001
NM_020964.3(EPG5):c.5301C>G (p.Thr1767=) rs1163327702 0.00001
NM_020964.3(EPG5):c.5304+18C>T rs534430922 0.00001
NM_020964.3(EPG5):c.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.5420T>C (p.Ile1807Thr) rs764666107 0.00001
NM_020964.3(EPG5):c.5439T>C (p.Leu1813=) rs1284639599 0.00001
NM_020964.3(EPG5):c.5455A>G (p.Thr1819Ala) rs1367810444 0.00001
NM_020964.3(EPG5):c.5460T>C (p.Tyr1820=) rs1328890692 0.00001
NM_020964.3(EPG5):c.5466T>C (p.Leu1822=) rs1252216620 0.00001
NM_020964.3(EPG5):c.5518+13A>G rs1182793566 0.00001
NM_020964.3(EPG5):c.5518+15T>G rs372157962 0.00001
NM_020964.3(EPG5):c.5519-15T>C rs2511578359 0.00001
NM_020964.3(EPG5):c.5519-9T>G rs968394366 0.00001
NM_020964.3(EPG5):c.551G>T (p.Gly184Val) rs1482099768 0.00001
NM_020964.3(EPG5):c.5526G>A (p.Ala1842=) rs749486885 0.00001
NM_020964.3(EPG5):c.552C>G (p.Gly184=) rs1599649645 0.00001
NM_020964.3(EPG5):c.5531A>G (p.Gln1844Arg) rs1232750336 0.00001
NM_020964.3(EPG5):c.5545G>A (p.Glu1849Lys) rs777698208 0.00001
NM_020964.3(EPG5):c.5550T>C (p.Cys1850=) rs1003005511 0.00001
NM_020964.3(EPG5):c.5560A>T (p.Thr1854Ser) rs758263741 0.00001
NM_020964.3(EPG5):c.5589C>G (p.Pro1863=) rs749900326 0.00001
NM_020964.3(EPG5):c.5603G>A (p.Gly1868Glu) rs751998000 0.00001
NM_020964.3(EPG5):c.5622C>T (p.Gly1874=) rs772095809 0.00001
NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs) rs759930622 0.00001
NM_020964.3(EPG5):c.5664G>A (p.Lys1888=) rs370568490 0.00001
NM_020964.3(EPG5):c.5667+17C>G rs776811552 0.00001
NM_020964.3(EPG5):c.5667+18T>C rs770868933 0.00001
NM_020964.3(EPG5):c.5674G>C (p.Glu1892Gln) rs773270236 0.00001
NM_020964.3(EPG5):c.5676G>A (p.Glu1892=) rs764071067 0.00001
NM_020964.3(EPG5):c.5683C>T (p.Gln1895Ter) rs1896497587 0.00001
NM_020964.3(EPG5):c.5697C>T (p.Asp1899=) rs753791472 0.00001
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844 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.5764C>G (p.Pro1922Ala) rs780245388 0.00001
NM_020964.3(EPG5):c.5790C>T (p.Phe1930=) rs1377219038 0.00001
NM_020964.3(EPG5):c.5811G>A (p.Arg1937=) rs767549570 0.00001
NM_020964.3(EPG5):c.5854G>A (p.Ala1952Thr) rs111806310 0.00001
NM_020964.3(EPG5):c.5865A>G (p.Lys1955=) rs369326039 0.00001
NM_020964.3(EPG5):c.5869+15A>C rs1306258202 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_020964.3(EPG5):c.5869+20A>T rs765142313 0.00001
NM_020964.3(EPG5):c.5870-16_5870-14del rs1353548453 0.00001
NM_020964.3(EPG5):c.5872C>T (p.Leu1958=) rs374326658 0.00001
NM_020964.3(EPG5):c.5886T>C (p.His1962=) rs766100511 0.00001
NM_020964.3(EPG5):c.5890G>T (p.Val1964Leu) rs760613861 0.00001
NM_020964.3(EPG5):c.5942+10T>A rs763388380 0.00001
NM_020964.3(EPG5):c.5943-14T>G rs1289958063 0.00001
NM_020964.3(EPG5):c.5949A>G (p.Gln1983=) rs909993678 0.00001
NM_020964.3(EPG5):c.5955G>A (p.Arg1985=) rs2511548065 0.00001
NM_020964.3(EPG5):c.5964C>T (p.Pro1988=) rs1238053321 0.00001
NM_020964.3(EPG5):c.6050-5T>C rs752296230 0.00001
NM_020964.3(EPG5):c.60A>G (p.Thr20=) rs1217843401 0.00001
NM_020964.3(EPG5):c.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.6130C>T (p.Pro2044Ser) rs1289861507 0.00001
NM_020964.3(EPG5):c.6132A>G (p.Pro2044=) rs1442587078 0.00001
NM_020964.3(EPG5):c.6171A>G (p.Lys2057=) rs2048850060 0.00001
NM_020964.3(EPG5):c.6174G>A (p.Leu2058=) rs779393410 0.00001
NM_020964.3(EPG5):c.6213G>A (p.Glu2071=) rs1799077479 0.00001
NM_020964.3(EPG5):c.6225+7C>G rs1367853038 0.00001
NM_020964.3(EPG5):c.6228G>A (p.Val2076=) rs2511493105 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.6267G>A (p.Gly2089=) rs2048776668 0.00001
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317 0.00001
NM_020964.3(EPG5):c.6285C>G (p.Val2095=) rs753103028 0.00001
NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly) rs201980410 0.00001
NM_020964.3(EPG5):c.63+13C>T rs932525874 0.00001
NM_020964.3(EPG5):c.63+1G>T rs2051284935 0.00001
NM_020964.3(EPG5):c.6311C>G (p.Ala2104Gly) rs766396310 0.00001
NM_020964.3(EPG5):c.6323G>T (p.Ser2108Ile) rs764011985 0.00001
NM_020964.3(EPG5):c.635T>C (p.Val212Ala) rs756805638 0.00001
NM_020964.3(EPG5):c.64-15G>A rs1464624987 0.00001
NM_020964.3(EPG5):c.64-20A>G rs966182426 0.00001
NM_020964.3(EPG5):c.64-7T>C rs1186677098 0.00001
NM_020964.3(EPG5):c.641A>G (p.Lys214Arg) rs571324055 0.00001
NM_020964.3(EPG5):c.6501T>C (p.Tyr2167=) rs200002882 0.00001
NM_020964.3(EPG5):c.6521C>T (p.Pro2174Leu) rs775158816 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.6691G>A (p.Gly2231Arg) rs1568101761 0.00001
NM_020964.3(EPG5):c.6726G>A (p.Met2242Ile) rs866193216 0.00001
NM_020964.3(EPG5):c.672T>C (p.Ala224=) rs549669517 0.00001
NM_020964.3(EPG5):c.6741C>T (p.Asp2247=) rs371606723 0.00001
NM_020964.3(EPG5):c.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+12G>T rs1252333867 0.00001
NM_020964.3(EPG5):c.6766+14C>T rs533238977 0.00001
NM_020964.3(EPG5):c.6766+15G>A rs755531149 0.00001
NM_020964.3(EPG5):c.6766+16G>C rs1265119893 0.00001
NM_020964.3(EPG5):c.6767-8C>T rs748817848 0.00001
NM_020964.3(EPG5):c.676G>A (p.Glu226Lys) rs776920434 0.00001
NM_020964.3(EPG5):c.6783C>T (p.Thr2261=) rs1363843098 0.00001
NM_020964.3(EPG5):c.6784C>T (p.Arg2262Cys) rs973783719 0.00001
NM_020964.3(EPG5):c.6790A>G (p.Met2264Val) rs764375495 0.00001
NM_020964.3(EPG5):c.6816A>T (p.Glu2272Asp) rs766271900 0.00001
NM_020964.3(EPG5):c.6840G>A (p.Ala2280=) rs1417250816 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.6878G>A (p.Arg2293Gln) rs767427212 0.00001
NM_020964.3(EPG5):c.6882C>G (p.Thr2294=) rs543932630 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.6950C>T (p.Ala2317Val) rs2511458575 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.7010-10A>G rs1328392839 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.7089G>T (p.Leu2363=) rs2048568464 0.00001
NM_020964.3(EPG5):c.7128C>T (p.Tyr2376=) rs1407231862 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.720G>A (p.Glu240=) rs895791778 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.7224A>G (p.Pro2408=) rs768938489 0.00001
NM_020964.3(EPG5):c.7226+6T>C rs775743724 0.00001
NM_020964.3(EPG5):c.7227-12T>G rs1301241511 0.00001
NM_020964.3(EPG5):c.722G>A (p.Arg241Gln) rs369316500 0.00001
NM_020964.3(EPG5):c.7231G>A (p.Val2411Met) rs764568339 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.7293G>A (p.Gln2431=) rs917327725 0.00001
NM_020964.3(EPG5):c.7312G>A (p.Val2438Ile) rs868233133 0.00001
NM_020964.3(EPG5):c.7324T>C (p.Ser2442Pro) rs764577859 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.7356C>G (p.Ser2452Arg) rs1568094207 0.00001
NM_020964.3(EPG5):c.7374T>G (p.Ala2458=) rs2048549874 0.00001
NM_020964.3(EPG5):c.741G>A (p.Pro247=) rs765449856 0.00001
NM_020964.3(EPG5):c.7428G>A (p.Ser2476=) rs200441446 0.00001
NM_020964.3(EPG5):c.7442+10C>T rs756868817 0.00001
NM_020964.3(EPG5):c.7442+11G>A rs368361879 0.00001
NM_020964.3(EPG5):c.7442+5G>A rs1177839830 0.00001
NM_020964.3(EPG5):c.7442+9G>A rs780753748 0.00001
NM_020964.3(EPG5):c.7443-17T>A rs1254589381 0.00001
NM_020964.3(EPG5):c.7446C>T (p.Phe2482=) rs528308462 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.7469C>T (p.Ala2490Val) rs915990255 0.00001
NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile) rs1374928586 0.00001
NM_020964.3(EPG5):c.7492C>T (p.Pro2498Ser) rs2048500699 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.7558-12C>T rs778365667 0.00001
NM_020964.3(EPG5):c.7558-5T>C rs1320449268 0.00001
NM_020964.3(EPG5):c.7558-8T>C rs759398169 0.00001
NM_020964.3(EPG5):c.7569T>C (p.Ala2523=) rs760516751 0.00001
NM_020964.3(EPG5):c.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.7702C>T (p.Leu2568=) rs766347502 0.00001
NM_020964.3(EPG5):c.844A>G (p.Met282Val) rs1358436668 0.00001
NM_020964.3(EPG5):c.871T>A (p.Tyr291Asn) rs374637282 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_020964.3(EPG5):c.930G>A (p.Glu310=) rs776545263 0.00001
NM_020964.3(EPG5):c.940C>T (p.Leu314=) rs770563943 0.00001
NM_020964.3(EPG5):c.945A>G (p.Thr315=) rs746594600 0.00001
NM_020964.3(EPG5):c.972G>T (p.Arg324=) rs563029581 0.00001
NC_000018.10:g.45952644dup
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.1008+12A>G rs759581799
NM_020964.3(EPG5):c.1008+18C>A rs753721246
NM_020964.3(EPG5):c.1008+20G>T rs2512121454
NM_020964.3(EPG5):c.1009-14T>C rs1322414579
NM_020964.3(EPG5):c.1009-18C>G rs1372679077
NM_020964.3(EPG5):c.1017T>C (p.Cys339=)
NM_020964.3(EPG5):c.1017_1018del (p.Ala340fs) rs2050937885
NM_020964.3(EPG5):c.1029G>A (p.Val343=) rs373995336
NM_020964.3(EPG5):c.102del (p.Ser35fs) rs2512132869
NM_020964.3(EPG5):c.1049G>A (p.Arg350His)
NM_020964.3(EPG5):c.1049G>T (p.Arg350Leu) rs761712550
NM_020964.3(EPG5):c.1053C>T (p.Tyr351=) rs2512105700
NM_020964.3(EPG5):c.1057A>G (p.Arg353Gly) rs2512105631
NM_020964.3(EPG5):c.1059A>G (p.Arg353=) rs1599644906
NM_020964.3(EPG5):c.1077T>C (p.Asn359=)
NM_020964.3(EPG5):c.1080A>C (p.Ala360=) rs2050936033
NM_020964.3(EPG5):c.1098G>C (p.Lys366Asn) rs532788286
NM_020964.3(EPG5):c.1110C>T (p.Ala370=) rs2050935154
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.1129C>T (p.Gln377Ter)
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.1164C>T (p.Leu388=) rs1381132534
NM_020964.3(EPG5):c.1166C>G (p.Ser389Ter) rs1281626933
NM_020964.3(EPG5):c.1182G>T (p.Glu394Asp) rs1293463823
NM_020964.3(EPG5):c.1188C>T (p.Tyr396=) rs773448279
NM_020964.3(EPG5):c.1203C>T (p.Leu401=) rs2512103681
NM_020964.3(EPG5):c.1204A>G (p.Ser402Gly) rs779034631
NM_020964.3(EPG5):c.1212A>C (p.Ser404=) rs2143745666
NM_020964.3(EPG5):c.1237C>G (p.His413Asp) rs2050930158
NM_020964.3(EPG5):c.1237C>T (p.His413Tyr) rs2050930158
NM_020964.3(EPG5):c.1239C>T (p.His413=) rs991123123
NM_020964.3(EPG5):c.1245A>G (p.Gln415=) rs1404935327
NM_020964.3(EPG5):c.1252+15A>G
NM_020964.3(EPG5):c.1252+1G>A rs763788808
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.1253-15A>G rs2512092911
NM_020964.3(EPG5):c.1253-1G>A rs1470797555
NM_020964.3(EPG5):c.1254G>T (p.Ala418=) rs368735317
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu) rs2143723704
NM_020964.3(EPG5):c.1261_1263del (p.Gln421del) rs2512092539
NM_020964.3(EPG5):c.126C>G (p.Thr42=) rs778114558
NM_020964.3(EPG5):c.1272C>T (p.Ser424=) rs1187682512
NM_020964.3(EPG5):c.12G>C (p.Ala4=) rs545101317
NM_020964.3(EPG5):c.12G>T (p.Ala4=) rs545101317
NM_020964.3(EPG5):c.1308T>C (p.Ile436=) rs2050900008
NM_020964.3(EPG5):c.1311T>C (p.Ser437=) rs2512091783
NM_020964.3(EPG5):c.1341T>C (p.Asn447=) rs2512091334
NM_020964.3(EPG5):c.1346A>T (p.Asp449Val) rs2143722158
NM_020964.3(EPG5):c.1356T>G (p.Phe452Leu) rs769919323
NM_020964.3(EPG5):c.135G>A (p.Glu45=) rs370173694
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp) rs370173694
NM_020964.3(EPG5):c.1362T>C (p.Asp454=) rs2512091071
NM_020964.3(EPG5):c.1371T>C (p.Leu457=) rs2512090968
NM_020964.3(EPG5):c.1389+12G>A rs1599641490
NM_020964.3(EPG5):c.1389+12G>C rs1599641490
NM_020964.3(EPG5):c.1389+18G>T rs2512090404
NM_020964.3(EPG5):c.1389+2T>G rs2512090754
NM_020964.3(EPG5):c.1390-13C>T rs897624471
NM_020964.3(EPG5):c.1390-20A>T rs1368126316
NM_020964.3(EPG5):c.1390-21_1390-20delinsAT rs2512074751
NM_020964.3(EPG5):c.1390-5T>C rs1555680767
NM_020964.3(EPG5):c.1392A>G (p.Val464=) rs2050859547
NM_020964.3(EPG5):c.1401A>G (p.Leu467=) rs1176818060
NM_020964.3(EPG5):c.1405dup (p.Arg469fs) rs2512074031
NM_020964.3(EPG5):c.1428C>T (p.His476=) rs2143695152
NM_020964.3(EPG5):c.1434C>T (p.Phe478=) rs2512073837
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer) rs762639913
NM_020964.3(EPG5):c.1443C>G (p.Asn481Lys) rs2512073740
NM_020964.3(EPG5):c.1443C>T (p.Asn481=) rs2512073740
NM_020964.3(EPG5):c.1497+10del rs2512072889
NM_020964.3(EPG5):c.1497+16A>C rs1266617084
NM_020964.3(EPG5):c.1497+17A>G
NM_020964.3(EPG5):c.1497+1G>T rs886043244
NM_020964.3(EPG5):c.1497+20C>T rs2143693741
NM_020964.3(EPG5):c.1497+8G>A rs2512072922
NM_020964.3(EPG5):c.1498-14T>C rs778986561
NM_020964.3(EPG5):c.1498-17del rs2050838482
NM_020964.3(EPG5):c.1499T>G (p.Ile500Ser) rs2512064752
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
NM_020964.3(EPG5):c.1504G>A (p.Val502Met) rs2050837867
NM_020964.3(EPG5):c.150T>C (p.Ser50=) rs368060363
NM_020964.3(EPG5):c.1521del (p.Val509fs) rs2512064510
NM_020964.3(EPG5):c.1527C>T (p.Val509=) rs2512064389
NM_020964.3(EPG5):c.1530T>C (p.Phe510=) rs141397058
NM_020964.3(EPG5):c.1533T>C (p.His511=) rs2512064251
NM_020964.3(EPG5):c.1539G>A (p.Met513Ile) rs369120436
NM_020964.3(EPG5):c.1544C>A (p.Ser515Tyr) rs746558016
NM_020964.3(EPG5):c.1551C>G (p.Ala517=) rs778227325
NM_020964.3(EPG5):c.1562C>G (p.Ser521Cys) rs1410627276
NM_020964.3(EPG5):c.1564C>G (p.Pro522Ala) rs748453305
NM_020964.3(EPG5):c.1571+10C>T rs2512063597
NM_020964.3(EPG5):c.1571+20G>A rs2145941626
NM_020964.3(EPG5):c.1572-12C>T rs1183510332
NM_020964.3(EPG5):c.1572-4T>G rs2050791585
NM_020964.3(EPG5):c.1576C>T (p.Arg526Ter)
NM_020964.3(EPG5):c.1596C>T (p.His532=) rs2512046929
NM_020964.3(EPG5):c.1617G>A (p.Lys539=) rs2145928566
NM_020964.3(EPG5):c.1625C>G (p.Ser542Cys) rs754742313
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.1629_1630del (p.Gly544fs) rs2512046039
NM_020964.3(EPG5):c.1638G>A (p.Gly546=) rs1410683666
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.1664A>T (p.Glu555Val) rs2050789196
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.1677+10C>T rs1328765505
NM_020964.3(EPG5):c.1677+7T>C
NM_020964.3(EPG5):c.1677+8G>T rs2050788851
NM_020964.3(EPG5):c.1678-12C>T
NM_020964.3(EPG5):c.1678-1G>A rs755928939
NM_020964.3(EPG5):c.1678-4T>A rs766101598
NM_020964.3(EPG5):c.1678-6C>T rs753777979
NM_020964.3(EPG5):c.1678-7C>T rs2050737286
NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser) rs750054758
NM_020964.3(EPG5):c.1702A>C (p.Ile568Leu) rs1302366422
NM_020964.3(EPG5):c.1707C>A (p.Leu569=) rs1445665065
NM_020964.3(EPG5):c.1708C>G (p.Leu570Val) rs1033731897
NM_020964.3(EPG5):c.1713T>C (p.Asn571=) rs1364153002
NM_020964.3(EPG5):c.1777_1781del (p.Leu592_Gly593insTer) rs776146922
NM_020964.3(EPG5):c.177T>C (p.His59=) rs2512132071
NM_020964.3(EPG5):c.1783A>G (p.Lys595Glu) rs1483709735
NM_020964.3(EPG5):c.1792+14T>C rs2050732856
NM_020964.3(EPG5):c.1792+6C>T rs2145912247
NM_020964.3(EPG5):c.1793-4C>T rs2512016786
NM_020964.3(EPG5):c.1796A>T (p.Asp599Val) rs759930853
NM_020964.3(EPG5):c.1800T>C (p.Tyr600=) rs2089635607
NM_020964.3(EPG5):c.181A>G (p.Lys61Glu) rs2512132004
NM_020964.3(EPG5):c.1825G>A (p.Glu609Lys) rs2050711067
NM_020964.3(EPG5):c.1847_1859del (p.Ala615_Phe616insTer) rs984089547
NM_020964.3(EPG5):c.184G>A (p.Val62Met) rs1200007844
NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro) rs2145906621
NM_020964.3(EPG5):c.1875T>C (p.Ala625=) rs2512015912
NM_020964.3(EPG5):c.1880G>A (p.Gly627Glu) rs1488725589
NM_020964.3(EPG5):c.1904G>T (p.Arg635Leu) rs761134702
NM_020964.3(EPG5):c.1907A>G (p.Tyr636Cys) rs2145906346
NM_020964.3(EPG5):c.1910G>T (p.Arg637Met) rs773395403
NM_020964.3(EPG5):c.1913A>C (p.Gln638Pro) rs2050708572
NM_020964.3(EPG5):c.1918G>T (p.Val640Leu)
NM_020964.3(EPG5):c.1920G>A (p.Val640=)
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
NM_020964.3(EPG5):c.1935T>C (p.Tyr645=) rs2050707898
NM_020964.3(EPG5):c.1943+20A>G rs2145905978
NM_020964.3(EPG5):c.1944-10T>C rs2511991909
NM_020964.3(EPG5):c.1944-12C>T rs1343650854
NM_020964.3(EPG5):c.1944-16C>A rs575676819
NM_020964.3(EPG5):c.1944-16C>G rs575676819
NM_020964.3(EPG5):c.1944-16C>T rs575676819
NM_020964.3(EPG5):c.1944-18_1944-16del rs2511991965
NM_020964.3(EPG5):c.1944-3C>G rs376498905
NM_020964.3(EPG5):c.1952T>C (p.Leu651Pro) rs2511991707
NM_020964.3(EPG5):c.1954G>A (p.Gly652Ser) rs754417895
NM_020964.3(EPG5):c.1954G>T (p.Gly652Cys) rs754417895
NM_020964.3(EPG5):c.1991del (p.His664fs) rs2511991321
NM_020964.3(EPG5):c.19C>T (p.Pro7Ser) rs751686358
NM_020964.3(EPG5):c.2013C>G (p.Ala671=) rs536068618
NM_020964.3(EPG5):c.2019G>A (p.Gln673=) rs928367570
NM_020964.3(EPG5):c.2019G>T (p.Gln673His) rs928367570
NM_020964.3(EPG5):c.2022C>G (p.Pro674=) rs760628080
NM_020964.3(EPG5):c.2030T>C (p.Met677Thr) rs2511991012
NM_020964.3(EPG5):c.2041del (p.Gln681fs) rs2145880933
NM_020964.3(EPG5):c.2044G>A (p.Val682Ile) rs2050618634
NM_020964.3(EPG5):c.205C>T (p.Gln69Ter) rs2512131709
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.2076C>A (p.Val692=)
NM_020964.3(EPG5):c.2088G>A (p.Leu696=) rs2511990525
NM_020964.3(EPG5):c.2091G>A (p.Lys697=) rs2511990514
NM_020964.3(EPG5):c.2099+15T>G rs1599617309
NM_020964.3(EPG5):c.2099+19_2099+21del rs2050615336
NM_020964.3(EPG5):c.2099+8A>G rs2511990424
NM_020964.3(EPG5):c.2099+9G>A rs1599617384
NM_020964.3(EPG5):c.20C>A (p.Pro7His) rs1368802413
NM_020964.3(EPG5):c.20C>T (p.Pro7Leu) rs1368802413
NM_020964.3(EPG5):c.2100-12G>C rs2511955315
NM_020964.3(EPG5):c.2100-5T>C rs2050486050
NM_020964.3(EPG5):c.2124C>G (p.Ser708=) rs571198688
NM_020964.3(EPG5):c.2139G>A (p.Gly713=) rs2050484777
NM_020964.3(EPG5):c.213T>C (p.Asp71=) rs1253979449
NM_020964.3(EPG5):c.2142T>C (p.Thr714=) rs2511954569
NM_020964.3(EPG5):c.2147_2150del (p.Ser716fs) rs2511954380
NM_020964.3(EPG5):c.2157G>A (p.Met719Ile) rs2145846069
NM_020964.3(EPG5):c.2160G>A (p.Leu720=) rs752923334
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.2191dup (p.Glu731fs) rs1279294789
NM_020964.3(EPG5):c.21C>T (p.Pro7=) rs1477393309
NM_020964.3(EPG5):c.2205G>A (p.Leu735=) rs1286730402
NM_020964.3(EPG5):c.2219C>T (p.Ser740Phe) rs2511953308
NM_020964.3(EPG5):c.2236C>T (p.Gln746Ter) rs2050481336
NM_020964.3(EPG5):c.2255A>G (p.Gln752Arg) rs2050480635
NM_020964.3(EPG5):c.2257+11G>T
NM_020964.3(EPG5):c.2257+14G>A rs904519700
NM_020964.3(EPG5):c.2257+17C>G
NM_020964.3(EPG5):c.2257+19G>C rs1412343479
NM_020964.3(EPG5):c.2257+8C>A rs779267206
NM_020964.3(EPG5):c.2258-6T>C rs748521018
NM_020964.3(EPG5):c.2258-9A>C
NM_020964.3(EPG5):c.2268T>C (p.His756=) rs2511922787
NM_020964.3(EPG5):c.2272A>C (p.Thr758Pro) rs2145819702
NM_020964.3(EPG5):c.2272A>G (p.Thr758Ala) rs2145819702
NM_020964.3(EPG5):c.2275A>G (p.Asn759Asp) rs2511922737
NM_020964.3(EPG5):c.2323_2339del (p.Leu775fs)
NM_020964.3(EPG5):c.2334C>A (p.Thr778=)
NM_020964.3(EPG5):c.2334C>G (p.Thr778=) rs200676427
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) rs2511921909
NM_020964.3(EPG5):c.2378A>G (p.Asp793Gly) rs943904124
NM_020964.3(EPG5):c.2395G>T (p.Val799Phe) rs376598755
NM_020964.3(EPG5):c.23A>G (p.Gln8Arg)
NM_020964.3(EPG5):c.2403G>A (p.Glu801=) rs2050379301
NM_020964.3(EPG5):c.240G>A (p.Met80Ile) rs1410991160
NM_020964.3(EPG5):c.2412+14G>A rs775793154
NM_020964.3(EPG5):c.2412+8T>A rs1451661239
NM_020964.3(EPG5):c.2413-10C>A rs1207017592
NM_020964.3(EPG5):c.2413-12C>G rs371292227
NM_020964.3(EPG5):c.2413-15del rs1197236398
NM_020964.3(EPG5):c.2413-16C>G rs550407878
NM_020964.3(EPG5):c.2413-19C>A
NM_020964.3(EPG5):c.2413-19C>T rs778861279
NM_020964.3(EPG5):c.2413-2A>G rs2511909575
NM_020964.3(EPG5):c.2413-6A>G rs779751564
NM_020964.3(EPG5):c.2413-7del rs1568163935
NM_020964.3(EPG5):c.2413-7dup rs1568163935
NM_020964.3(EPG5):c.2413-9C>T rs1394335237
NM_020964.3(EPG5):c.2427del (p.Leu810fs) rs2145807103
NM_020964.3(EPG5):c.2430G>T (p.Leu810Phe) rs1192483869
NM_020964.3(EPG5):c.2439A>G (p.Arg813=) rs763399377
NM_020964.3(EPG5):c.2444C>T (p.Thr815Ile) rs2050338855
NM_020964.3(EPG5):c.2449del (p.Ser817fs) rs758184848
NM_020964.3(EPG5):c.2461C>A (p.Arg821=)
NM_020964.3(EPG5):c.2468T>A (p.Leu823His) rs368314420
NM_020964.3(EPG5):c.2468T>G (p.Leu823Arg)
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val) rs1431465478
NM_020964.3(EPG5):c.2481C>T (p.Ile827=) rs778808120
NM_020964.3(EPG5):c.2485G>A (p.Ala829Thr) rs768644448
NM_020964.3(EPG5):c.2488G>C (p.Val830Leu) rs1187668592
NM_020964.3(EPG5):c.2493C>T (p.His831=) rs2050336691
NM_020964.3(EPG5):c.2499G>A (p.Glu833=) rs2511908433
NM_020964.3(EPG5):c.249A>C (p.Val83=) rs759140772
NM_020964.3(EPG5):c.2511C>A (p.Val837=) rs2511908326
NM_020964.3(EPG5):c.252A>T (p.Pro84=) rs771608247
NM_020964.3(EPG5):c.2538T>G (p.Ile846Met) rs2511908123
NM_020964.3(EPG5):c.2553+9A>G rs759981741
NM_020964.3(EPG5):c.2554-16T>C rs2511887266
NM_020964.3(EPG5):c.2554-20A>G
NM_020964.3(EPG5):c.2554-20dup rs753312948
NM_020964.3(EPG5):c.2562A>G (p.Leu854=)
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.2577A>G (p.Glu859=) rs74561023
NM_020964.3(EPG5):c.2595G>T (p.Trp865Cys) rs1160786631
NM_020964.3(EPG5):c.2601T>G (p.Pro867=) rs1400737444
NM_020964.3(EPG5):c.2604T>C (p.Ser868=) rs2511886802
NM_020964.3(EPG5):c.2622G>A (p.Val874=)
NM_020964.3(EPG5):c.2622G>C (p.Val874=) rs1250079188
NM_020964.3(EPG5):c.2629G>C (p.Asp877His) rs1283557669
NM_020964.3(EPG5):c.2646C>T (p.Tyr882=) rs2145782921
NM_020964.3(EPG5):c.2656G>T (p.Val886Leu) rs761994856
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=) rs745649076
NM_020964.3(EPG5):c.2683A>G (p.Ile895Val) rs770869880
NM_020964.3(EPG5):c.2694A>G (p.Gly898=) rs2511885765
NM_020964.3(EPG5):c.2695_2718+32del rs2511885141
NM_020964.3(EPG5):c.2697G>A (p.Leu899=) rs1599585460
NM_020964.3(EPG5):c.2718+14C>T rs1760916073
NM_020964.3(EPG5):c.2718+17T>C rs2511885358
NM_020964.3(EPG5):c.2718+20C>T rs2511885328
NM_020964.3(EPG5):c.2718+7G>A rs761789268
NM_020964.3(EPG5):c.2719-11_2719-6del rs2511869403
NM_020964.3(EPG5):c.2719-12del
NM_020964.3(EPG5):c.2719-1G>C rs2511869355
NM_020964.3(EPG5):c.2719-20A>G rs780579120
NM_020964.3(EPG5):c.2719-4A>G rs1217841497
NM_020964.3(EPG5):c.2723C>T (p.Thr908Ile) rs2145765529
NM_020964.3(EPG5):c.2724C>T (p.Thr908=) rs1242696420
NM_020964.3(EPG5):c.2728C>T (p.His910Tyr)
NM_020964.3(EPG5):c.2731C>G (p.Leu911Val) rs757435994
NM_020964.3(EPG5):c.2737C>T (p.Gln913Ter) rs2511869120
NM_020964.3(EPG5):c.2741C>T (p.Ala914Val) rs1461759787
NM_020964.3(EPG5):c.2747A>G (p.His916Arg) rs2511869020
NM_020964.3(EPG5):c.277G>T (p.Glu93Ter) rs2512130923
NM_020964.3(EPG5):c.2796A>G (p.Ala932=) rs2511868623
NM_020964.3(EPG5):c.2803C>G (p.Pro935Ala) rs2050196248
NM_020964.3(EPG5):c.2803C>T (p.Pro935Ser) rs2050196248
NM_020964.3(EPG5):c.2808T>C (p.Tyr936=) rs771774729
NM_020964.3(EPG5):c.280G>C (p.Glu94Gln) rs2143792761
NM_020964.3(EPG5):c.2813_2824del (p.Gly938_Ser941del) rs1568158743
NM_020964.3(EPG5):c.2817T>A (p.Ile939=)
NM_020964.3(EPG5):c.2820C>G (p.Leu940=) rs748846851
NM_020964.3(EPG5):c.2835G>A (p.Lys945=)
NM_020964.3(EPG5):c.2838+11C>G rs2511868043
NM_020964.3(EPG5):c.2838+19A>G rs374315601
NM_020964.3(EPG5):c.2838+19A>T rs374315601
NM_020964.3(EPG5):c.2838+7C>T rs2511868077
NM_020964.3(EPG5):c.2839-16T>C rs2511863490
NM_020964.3(EPG5):c.2839-1G>T rs2511863413
NM_020964.3(EPG5):c.2839-20A>G rs2511863501
NM_020964.3(EPG5):c.2840T>C (p.Val947Ala) rs2511863370
NM_020964.3(EPG5):c.2844A>G (p.Ser948=) rs916382324
NM_020964.3(EPG5):c.2844A>T (p.Ser948=) rs916382324
NM_020964.3(EPG5):c.2846A>T (p.Tyr949Phe) rs2050184005
NM_020964.3(EPG5):c.2857A>G (p.Ile953Val) rs2145760173
NM_020964.3(EPG5):c.285C>T (p.Ser95=) rs2512130846
NM_020964.3(EPG5):c.2865A>C (p.Arg955=) rs199541208
NM_020964.3(EPG5):c.2880C>G (p.Pro960=) rs577918967
NM_020964.3(EPG5):c.2880C>T (p.Pro960=) rs577918967
NM_020964.3(EPG5):c.2904C>A (p.Ala968=) rs1454534885
NM_020964.3(EPG5):c.2916C>T (p.Ile972=) rs2511862875
NM_020964.3(EPG5):c.291G>A (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.291G>C (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.291G>T (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.2936A>G (p.Lys979Arg) rs2511862709
NM_020964.3(EPG5):c.2953C>T (p.Gln985Ter) rs2050180962
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe) rs2050179430
NM_020964.3(EPG5):c.299_300del (p.Thr100fs) rs2512130693
NM_020964.3(EPG5):c.29G>A (p.Arg10Gln) rs766375417
NM_020964.3(EPG5):c.3003A>G (p.Thr1001=) rs2511862034
NM_020964.3(EPG5):c.3005_3006del (p.Glu1002fs)
NM_020964.3(EPG5):c.3015G>A (p.Thr1005=)
NM_020964.3(EPG5):c.3022C>T (p.Pro1008Ser) rs2511861850
NM_020964.3(EPG5):c.303G>A (p.Glu101=) rs758143090
NM_020964.3(EPG5):c.3045G>C (p.Ala1015=) rs772585558
NM_020964.3(EPG5):c.3054C>T (p.Pro1018=) rs2511861527
NM_020964.3(EPG5):c.3062G>A (p.Cys1021Tyr) rs2050175508
NM_020964.3(EPG5):c.3067C>T (p.Leu1023=) rs749386144
NM_020964.3(EPG5):c.3083C>G (p.Thr1028Arg) rs2050174462
NM_020964.3(EPG5):c.3084A>G (p.Thr1028=) rs2511861224
NM_020964.3(EPG5):c.3087T>C (p.Ala1029=) rs2511861206
NM_020964.3(EPG5):c.3098+2T>C rs1599578081
NM_020964.3(EPG5):c.3099-14C>T rs2511835867
NM_020964.3(EPG5):c.3105G>A (p.Glu1035=)
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) rs1483969601
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) rs2511835618
NM_020964.3(EPG5):c.3117A>G (p.Ala1039=) rs2511835584
NM_020964.3(EPG5):c.3130C>A (p.Leu1044Ile) rs2511835447
NM_020964.3(EPG5):c.3132A>G (p.Leu1044=) rs779942616
NM_020964.3(EPG5):c.3145G>T (p.Val1049Phe) rs2145725033
NM_020964.3(EPG5):c.3148C>T (p.Gln1050Ter) rs2511835278
NM_020964.3(EPG5):c.3150G>A (p.Gln1050=) rs2050066047
NM_020964.3(EPG5):c.3156A>T (p.Arg1052Ser) rs777731844
NM_020964.3(EPG5):c.3166del (p.Thr1056fs)
NM_020964.3(EPG5):c.3171G>A (p.Val1057=) rs1401806394
NM_020964.3(EPG5):c.3171G>T (p.Val1057=) rs1401806394
NM_020964.3(EPG5):c.3176A>G (p.His1059Arg) rs936848208
NM_020964.3(EPG5):c.3200del (p.Leu1067fs) rs746036349
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) rs1568153124
NM_020964.3(EPG5):c.3210_3213del (p.Cys1071fs) rs2511834817
NM_020964.3(EPG5):c.3216G>A (p.Gln1072=) rs763038687
NM_020964.3(EPG5):c.3234T>C (p.Asn1078=) rs2511834716
NM_020964.3(EPG5):c.3239+12C>G rs2511834585
NM_020964.3(EPG5):c.3239+14A>C
NM_020964.3(EPG5):c.3239+14A>T
NM_020964.3(EPG5):c.3239+15T>C rs2511834542
NM_020964.3(EPG5):c.3239+18A>G rs773125088
NM_020964.3(EPG5):c.3239+20G>A
NM_020964.3(EPG5):c.3240-10T>C rs2050039388
NM_020964.3(EPG5):c.3240-19C>A
NM_020964.3(EPG5):c.3240-9G>A rs2511826798
NM_020964.3(EPG5):c.3248C>A (p.Ser1083Ter) rs78339727
NM_020964.3(EPG5):c.3250_3251insTC (p.His1084fs)
NM_020964.3(EPG5):c.3261G>A (p.Leu1087=) rs1599566104
NM_020964.3(EPG5):c.3266T>C (p.Leu1089Pro) rs2511826554
NM_020964.3(EPG5):c.3270C>A (p.His1090Gln) rs2050038241
NM_020964.3(EPG5):c.3270C>T (p.His1090=)
NM_020964.3(EPG5):c.3276C>T (p.Asp1092=) rs2050037917
NM_020964.3(EPG5):c.3279C>A (p.Ser1093Arg) rs72918350
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) rs773037161
NM_020964.3(EPG5):c.3303A>G (p.Gln1101=) rs201545867
NM_020964.3(EPG5):c.3315C>T (p.His1105=) rs1299046325
NM_020964.3(EPG5):c.3318G>T (p.Lys1106Asn) rs2511826127
NM_020964.3(EPG5):c.3325C>T (p.Gln1109Ter) rs1279711396
NM_020964.3(EPG5):c.3330C>T (p.His1110=) rs373497800
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro) rs2050036468
NM_020964.3(EPG5):c.3336A>G (p.Thr1112=) rs2511825898
NM_020964.3(EPG5):c.333C>T (p.Pro111=) rs2512130184
NM_020964.3(EPG5):c.333del (p.Cys112fs) rs2512130199
NM_020964.3(EPG5):c.3348T>C (p.His1116=) rs1461997629
NM_020964.3(EPG5):c.3355A>G (p.Asn1119Asp) rs2511825745
NM_020964.3(EPG5):c.3362A>G (p.Lys1121Arg) rs1177527928
NM_020964.3(EPG5):c.3363G>T (p.Lys1121Asn) rs777267935
NM_020964.3(EPG5):c.3372C>T (p.Asn1124=) rs753035594
NM_020964.3(EPG5):c.3375C>T (p.Ser1125=) rs2511825400
NM_020964.3(EPG5):c.3384+15dup rs2511825162
NM_020964.3(EPG5):c.3384+19C>T rs2511825053
NM_020964.3(EPG5):c.3384+7G>A rs1265430677
NM_020964.3(EPG5):c.3384G>A (p.Gln1128=) rs2050035169
NM_020964.3(EPG5):c.3385-10T>G rs946610919
NM_020964.3(EPG5):c.3385-15G>A
NM_020964.3(EPG5):c.3385-6C>T rs2511822601
NM_020964.3(EPG5):c.339G>C (p.Val113=) rs748481509
NM_020964.3(EPG5):c.339G>T (p.Val113=) rs748481509
NM_020964.3(EPG5):c.3400A>T (p.Ser1134Cys) rs2511822431
NM_020964.3(EPG5):c.3406C>T (p.Gln1136Ter) rs2050027504
NM_020964.3(EPG5):c.3411C>A (p.Pro1137=) rs2511822273
NM_020964.3(EPG5):c.341G>T (p.Gly114Val) rs1465876496
NM_020964.3(EPG5):c.3424C>T (p.Pro1142Ser) rs2511822115
NM_020964.3(EPG5):c.3426C>G (p.Pro1142=) rs777286012
NM_020964.3(EPG5):c.3432T>C (p.Ala1144=) rs1399336157
NM_020964.3(EPG5):c.3459C>G (p.Leu1153=)
NM_020964.3(EPG5):c.3474C>G (p.Leu1158=) rs2511821574
NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter) rs2145713137
NM_020964.3(EPG5):c.3480C>T (p.Tyr1160=)
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.3487C>T (p.Gln1163Ter) rs759405296
NM_020964.3(EPG5):c.3489A>C (p.Gln1163His) rs1221428043
NM_020964.3(EPG5):c.348T>C (p.Ser116=) rs2512129900
NM_020964.3(EPG5):c.3493A>C (p.Ile1165Leu) rs61744077
NM_020964.3(EPG5):c.3493_3497del (p.Ile1165fs) rs2511821297
NM_020964.3(EPG5):c.3501C>A (p.Phe1167Leu) rs1474104324
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=) rs2512129844
NM_020964.3(EPG5):c.353T>C (p.Val118Ala) rs2143791192
NM_020964.3(EPG5):c.3543G>A (p.Gln1181=) rs2511820908
NM_020964.3(EPG5):c.3544G>T (p.Glu1182Ter) rs2145712492
NM_020964.3(EPG5):c.3549C>T (p.Asp1183=)
NM_020964.3(EPG5):c.3555A>G (p.Ile1185Met) rs2050022757
NM_020964.3(EPG5):c.3565C>G (p.Leu1189Val) rs781321117
NM_020964.3(EPG5):c.3582+13T>C rs2511820425
NM_020964.3(EPG5):c.3582+15A>G rs1317308641
NM_020964.3(EPG5):c.3582+18G>T rs1240884427
NM_020964.3(EPG5):c.3582+3A>G rs1210376180
NM_020964.3(EPG5):c.3582+5_3582+8dup rs928783336
NM_020964.3(EPG5):c.3583-11T>C rs2511816878
NM_020964.3(EPG5):c.3583-15C>T rs2511816999
NM_020964.3(EPG5):c.3583-17C>T rs2511817048
NM_020964.3(EPG5):c.3583-20C>T
NM_020964.3(EPG5):c.3583-7G>T rs1372657836
NM_020964.3(EPG5):c.3590T>A (p.Leu1197Ter) rs2511816676
NM_020964.3(EPG5):c.3594T>C (p.Gly1198=) rs2511816592
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=) rs2511816343
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.3638T>C (p.Ile1213Thr)
NM_020964.3(EPG5):c.3681C>T (p.Ala1227=) rs2511815706
NM_020964.3(EPG5):c.3682A>G (p.Thr1228Ala)
NM_020964.3(EPG5):c.3684G>A (p.Thr1228=) rs1278860724
NM_020964.3(EPG5):c.3689C>A (p.Thr1230Asn) rs772294581
NM_020964.3(EPG5):c.3691C>T (p.Gln1231Ter)
NM_020964.3(EPG5):c.3693+13C>G rs2511815438
NM_020964.3(EPG5):c.3693+17G>A rs762993371
NM_020964.3(EPG5):c.3693+18_3693+19del rs758272766
NM_020964.3(EPG5):c.3693+19G>A rs2050008242
NM_020964.3(EPG5):c.3693+19G>C rs2050008242
NM_020964.3(EPG5):c.3693+2_3693+5del rs2050008898
NM_020964.3(EPG5):c.3693G>A (p.Gln1231=)
NM_020964.3(EPG5):c.3694-12G>C
NM_020964.3(EPG5):c.3694-15C>T rs746737538
NM_020964.3(EPG5):c.3694-18T>C rs957672685
NM_020964.3(EPG5):c.3694-20T>G rs2511805312
NM_020964.3(EPG5):c.3694-7A>G
NM_020964.3(EPG5):c.3694-9T>G rs2511805182
NM_020964.3(EPG5):c.3696C>T (p.Val1232=) rs2145694406
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) rs1555673917
NM_020964.3(EPG5):c.370C>T (p.Pro124Ser)
NM_020964.3(EPG5):c.371C>T (p.Pro124Leu) rs2512129593
NM_020964.3(EPG5):c.3720C>A (p.Asn1240Lys) rs2145694247
NM_020964.3(EPG5):c.3734_3735del (p.Ile1244_Phe1245insTer)
NM_020964.3(EPG5):c.3746C>T (p.Ser1249Phe) rs2511804800
NM_020964.3(EPG5):c.3748C>T (p.Gln1250Ter)
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=) rs2511804606
NM_020964.3(EPG5):c.3778G>A (p.Val1260Met) rs2049965622
NM_020964.3(EPG5):c.3784A>T (p.Asn1262Tyr) rs2511804511
NM_020964.3(EPG5):c.3785del (p.Asn1262fs) rs1375860129
NM_020964.3(EPG5):c.3799C>G (p.Pro1267Ala) rs2049964767
NM_020964.3(EPG5):c.3808G>A (p.Ala1270Thr) rs1036019427
NM_020964.3(EPG5):c.3816+15del rs2511803998
NM_020964.3(EPG5):c.3816+16C>A rs1301437178
NM_020964.3(EPG5):c.3816+4_3816+5dup rs2049964277
NM_020964.3(EPG5):c.3817-11C>T
NM_020964.3(EPG5):c.3817-2A>G rs2511795260
NM_020964.3(EPG5):c.3817-5del rs34187496
NM_020964.3(EPG5):c.3822C>G (p.Ala1274=) rs2145683945
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=) rs2511794856
NM_020964.3(EPG5):c.3856C>T (p.Leu1286Phe) rs2511794761
NM_020964.3(EPG5):c.3859C>T (p.Gln1287Ter) rs2511794710
NM_020964.3(EPG5):c.3870G>A (p.Leu1290=)
NM_020964.3(EPG5):c.3878G>A (p.Arg1293His) rs781740724
NM_020964.3(EPG5):c.3881G>A (p.Trp1294Ter)
NM_020964.3(EPG5):c.3882_3883del (p.Trp1294fs) rs2511794481
NM_020964.3(EPG5):c.3888C>T (p.His1296=) rs2511794398
NM_020964.3(EPG5):c.3894T>C (p.Ala1298=)
NM_020964.3(EPG5):c.38C>T (p.Ala13Val) rs1479299665
NM_020964.3(EPG5):c.3901dup (p.Thr1301fs)
NM_020964.3(EPG5):c.3912T>C (p.Asp1304=)
NM_020964.3(EPG5):c.3918C>G (p.Pro1306=) rs1033299766
NM_020964.3(EPG5):c.3922C>T (p.Leu1308=) rs2511793919
NM_020964.3(EPG5):c.3930C>T (p.Leu1310=) rs2145683028
NM_020964.3(EPG5):c.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=) rs2511793670
NM_020964.3(EPG5):c.3948C>A (p.Phe1316Leu) rs2511793608
NM_020964.3(EPG5):c.3948C>T (p.Phe1316=) rs2511793608
NM_020964.3(EPG5):c.3969G>T (p.Pro1323=)
NM_020964.3(EPG5):c.3983+12A>C rs2511793039
NM_020964.3(EPG5):c.3983+16T>C rs1343736341
NM_020964.3(EPG5):c.3983+18G>T rs369724401
NM_020964.3(EPG5):c.3983+8_3983+10dup rs2511793089
NM_020964.3(EPG5):c.3983+9C>T rs1396270570
NM_020964.3(EPG5):c.3984-12G>C rs2145667569
NM_020964.3(EPG5):c.3984-19T>C rs1056919937
NM_020964.3(EPG5):c.3984-6T>C rs2511778489
NM_020964.3(EPG5):c.3984-8T>A rs1312462490
NM_020964.3(EPG5):c.3984-9dup rs1448453433
NM_020964.3(EPG5):c.4001G>C (p.Cys1334Ser) rs938393640
NM_020964.3(EPG5):c.4005T>C (p.Ile1335=) rs1457706430
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.402C>G (p.Thr134=) rs1229321630
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=) rs2049871854
NM_020964.3(EPG5):c.4047G>T (p.Leu1349Phe) rs1353924182
NM_020964.3(EPG5):c.4051G>T (p.Glu1351Ter) rs2511777479
NM_020964.3(EPG5):c.4063C>T (p.Arg1355Cys)
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020964.3(EPG5):c.4074G>A (p.Glu1358=) rs765098575
NM_020964.3(EPG5):c.4083C>G (p.Asp1361Glu) rs2145666399
NM_020964.3(EPG5):c.4083C>T (p.Asp1361=)
NM_020964.3(EPG5):c.408G>A (p.Lys136=) rs2050993562
NM_020964.3(EPG5):c.4095T>C (p.Ala1365=) rs2511776760
NM_020964.3(EPG5):c.4104G>A (p.Lys1368=)
NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe) rs2049869676
NM_020964.3(EPG5):c.4112G>A (p.Arg1371His) rs748634612
NM_020964.3(EPG5):c.4125G>A (p.Glu1375=) rs2511776333
NM_020964.3(EPG5):c.4130G>C (p.Ser1377Thr) rs1445842010
NM_020964.3(EPG5):c.4132G>T (p.Glu1378Ter) rs2511776301
NM_020964.3(EPG5):c.4152C>T (p.His1384=) rs200079588
NM_020964.3(EPG5):c.4161C>G (p.Thr1387=) rs752648281
NM_020964.3(EPG5):c.4161C>T (p.Thr1387=) rs752648281
NM_020964.3(EPG5):c.4164_4165delinsAT (p.Gly1389Cys) rs2049867986
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys) rs551488784
NM_020964.3(EPG5):c.417A>G (p.Thr139=)
NM_020964.3(EPG5):c.4184_4205+5del rs2511775323
NM_020964.3(EPG5):c.4195_4196delinsTT (p.Glu1399Leu) rs2145665111
NM_020964.3(EPG5):c.4205+12T>C rs2511775205
NM_020964.3(EPG5):c.4205+15T>G rs2511775169
NM_020964.3(EPG5):c.4205+19C>T rs1268742474
NM_020964.3(EPG5):c.4205+4A>T rs1281050179
NM_020964.3(EPG5):c.4214A>T (p.Asn1405Ile) rs374012879
NM_020964.3(EPG5):c.4218A>G (p.Val1406=) rs1599546418
NM_020964.3(EPG5):c.4219T>C (p.Tyr1407His)
NM_020964.3(EPG5):c.4231C>A (p.Leu1411Ile) rs1406862002
NM_020964.3(EPG5):c.4232T>G (p.Leu1411Arg) rs2511756962
NM_020964.3(EPG5):c.4239T>C (p.Asp1413=)
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=) rs2511756785
NM_020964.3(EPG5):c.4261A>G (p.Thr1421Ala) rs1231659675
NM_020964.3(EPG5):c.4263C>G (p.Thr1421=) rs201244994
NM_020964.3(EPG5):c.4269C>T (p.Ile1423=) rs765537954
NM_020964.3(EPG5):c.427G>A (p.Glu143Lys) rs2143789664
NM_020964.3(EPG5):c.4281A>G (p.Pro1427=)
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=) rs2511756213
NM_020964.3(EPG5):c.4300A>C (p.Arg1434=) rs2511756062
NM_020964.3(EPG5):c.4302G>A (p.Arg1434=) rs749205486
NM_020964.3(EPG5):c.4312G>A (p.Val1438Met) rs779984615
NM_020964.3(EPG5):c.4329+13C>A rs1286993357
NM_020964.3(EPG5):c.4329+15C>T rs2049795613
NM_020964.3(EPG5):c.4329+17C>T rs2145642100
NM_020964.3(EPG5):c.4329+18_4329+22del rs2511755351
NM_020964.3(EPG5):c.4329+19T>G rs753155754
NM_020964.3(EPG5):c.4330-12G>A rs770404883
NM_020964.3(EPG5):c.4330-12G>C rs770404883
NM_020964.3(EPG5):c.4330-15G>A rs2511729327
NM_020964.3(EPG5):c.4330-17C>G rs2511729376
NM_020964.3(EPG5):c.4330-17del rs2511729391
NM_020964.3(EPG5):c.4330-6T>C rs2511729199
NM_020964.3(EPG5):c.4330-7G>C rs1282559048
NM_020964.3(EPG5):c.4330-8T>C rs757005543
NM_020964.3(EPG5):c.4330-9C>G rs2511729281
NM_020964.3(EPG5):c.4344G>A (p.Glu1448=)
NM_020964.3(EPG5):c.4346A>G (p.Tyr1449Cys) rs778267082
NM_020964.3(EPG5):c.4347T>C (p.Tyr1449=) rs2511728979
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>T (p.Arg1454Leu) rs766875773
NM_020964.3(EPG5):c.4380G>A (p.Gln1460=) rs2511728705
NM_020964.3(EPG5):c.4386T>G (p.Thr1462=) rs1284302919
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs) rs1599536432
NM_020964.3(EPG5):c.438G>C (p.Ser146=) rs186410807
NM_020964.3(EPG5):c.4391del (p.Gly1464fs) rs2511728615
NM_020964.3(EPG5):c.4401A>C (p.Thr1467=) rs2511728537
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) rs759500686
NM_020964.3(EPG5):c.444_445delinsTT (p.Gln148_Gly149delinsHisCys) rs2143789374
NM_020964.3(EPG5):c.4452G>A (p.Leu1484=) rs2511728071
NM_020964.3(EPG5):c.445G>A (p.Gly149Ser) rs2050992088
NM_020964.3(EPG5):c.4474+10G>A
NM_020964.3(EPG5):c.4474+12dup rs1459072623
NM_020964.3(EPG5):c.4474+17C>T rs780641027
NM_020964.3(EPG5):c.4475-1G>A rs2511712153
NM_020964.3(EPG5):c.4475-2A>C rs373558595
NM_020964.3(EPG5):c.4475C>G (p.Ala1492Gly) rs2511712135
NM_020964.3(EPG5):c.4481A>G (p.Glu1494Gly) rs201631971
NM_020964.3(EPG5):c.4485G>A (p.Arg1495=) rs768286664
NM_020964.3(EPG5):c.4497C>A (p.Asn1499Lys) rs2511711794
NM_020964.3(EPG5):c.4497C>T (p.Asn1499=) rs2511711794
NM_020964.3(EPG5):c.4499T>A (p.Leu1500Ter) rs2511711755
NM_020964.3(EPG5):c.449G>A (p.Gly150Glu) rs2512128596
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp) rs370776793
NM_020964.3(EPG5):c.450A>T (p.Gly150=) rs777737049
NM_020964.3(EPG5):c.4513G>A (p.Ala1505Thr) rs2145589544
NM_020964.3(EPG5):c.4523C>G (p.Pro1508Arg) rs1462381114
NM_020964.3(EPG5):c.4542G>A (p.Pro1514=) rs761449592
NM_020964.3(EPG5):c.4542G>T (p.Pro1514=) rs761449592
NM_020964.3(EPG5):c.4548G>A (p.Lys1516=) rs2511711253
NM_020964.3(EPG5):c.4554T>C (p.Pro1518=) rs2511711204
NM_020964.3(EPG5):c.4557G>A (p.Val1519=)
NM_020964.3(EPG5):c.4557G>C (p.Val1519=) rs746408063
NM_020964.3(EPG5):c.4560A>G (p.Pro1520=) rs774190517
NM_020964.3(EPG5):c.4564A>G (p.Ile1522Val)
NM_020964.3(EPG5):c.4569C>T (p.Ser1523=) rs2145588826
NM_020964.3(EPG5):c.4572T>C (p.Ser1524=)
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.4589A>G (p.Gln1530Arg) rs750383421
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) rs2511710651
NM_020964.3(EPG5):c.4620C>T (p.Asp1540=) rs2049602058
NM_020964.3(EPG5):c.4629_4630del (p.Leu1544fs)
NM_020964.3(EPG5):c.463G>T (p.Ala155Ser) rs747965536
NM_020964.3(EPG5):c.4646+11G>A rs2049600821
NM_020964.3(EPG5):c.4646+13A>G rs747489873
NM_020964.3(EPG5):c.4646+15C>T rs2511710165
NM_020964.3(EPG5):c.4646+16dup rs2511710132
NM_020964.3(EPG5):c.4646+20C>T rs191567436
NM_020964.3(EPG5):c.4646+7C>A rs769360036
NM_020964.3(EPG5):c.4647-11A>G rs1410420309
NM_020964.3(EPG5):c.4647-12G>T rs2511701047
NM_020964.3(EPG5):c.4647-6_4647-4del rs2511700931
NM_020964.3(EPG5):c.4647-8T>G rs2049558692
NM_020964.3(EPG5):c.4651G>T (p.Ala1551Ser) rs2049558453
NM_020964.3(EPG5):c.4659T>A (p.Leu1553=) rs1224300680
NM_020964.3(EPG5):c.465A>G (p.Ala155=)
NM_020964.3(EPG5):c.4664A>T (p.Glu1555Val) rs1406529418
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
NM_020964.3(EPG5):c.4671G>A (p.Gln1557=) rs2511700631
NM_020964.3(EPG5):c.4674G>A (p.Gln1558=) rs2511700598
NM_020964.3(EPG5):c.4681C>G (p.Leu1561Val) rs944495980
NM_020964.3(EPG5):c.4686T>C (p.Asp1562=) rs2145576325
NM_020964.3(EPG5):c.4700A>G (p.Asp1567Gly) rs2145576239
NM_020964.3(EPG5):c.4704A>C (p.Thr1568=) rs1325907243
NM_020964.3(EPG5):c.4708C>A (p.Pro1570Thr) rs2049556450
NM_020964.3(EPG5):c.4713G>A (p.Lys1571=) rs2049556298
NM_020964.3(EPG5):c.4719T>G (p.Tyr1573Ter) rs759148474
NM_020964.3(EPG5):c.4740C>T (p.Thr1580=) rs2511699960
NM_020964.3(EPG5):c.4743A>G (p.Thr1581=) rs1225206726
NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro) rs1345938343
NM_020964.3(EPG5):c.4750T>C (p.Leu1584=) rs2511699845
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4758C>T (p.Cys1586=) rs1363610947
NM_020964.3(EPG5):c.4764C>T (p.Gly1588=) rs2511699736
NM_020964.3(EPG5):c.4767C>T (p.Ser1589=) rs2511699702
NM_020964.3(EPG5):c.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=) rs746011901
NM_020964.3(EPG5):c.4803G>C (p.Thr1601=)
NM_020964.3(EPG5):c.4807C>T (p.Gln1603Ter)
NM_020964.3(EPG5):c.4809+13A>G rs2049553149
NM_020964.3(EPG5):c.4809+1G>A rs1244992429
NM_020964.3(EPG5):c.4809+20C>T rs2511699235
NM_020964.3(EPG5):c.480T>C (p.Phe160=) rs2512128237
NM_020964.3(EPG5):c.4810-16C>G rs2049305579
NM_020964.3(EPG5):c.4813G>T (p.Glu1605Ter)
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser) rs2511641482
NM_020964.3(EPG5):c.4818C>T (p.Gly1606=)
NM_020964.3(EPG5):c.4869A>G (p.Glu1623=) rs2049303793
NM_020964.3(EPG5):c.486T>C (p.Tyr162=) rs2512128138
NM_020964.3(EPG5):c.486_491del (p.Tyr162_Gln164delinsTer) rs2512128017
NM_020964.3(EPG5):c.4876C>T (p.Gln1626Ter) rs2511640838
NM_020964.3(EPG5):c.4878G>A (p.Gln1626=) rs34257105
NM_020964.3(EPG5):c.488C>T (p.Thr163Ile) rs1167290983
NM_020964.3(EPG5):c.4894G>T (p.Ala1632Ser) rs2511640648
NM_020964.3(EPG5):c.4903C>T (p.Pro1635Ser) rs2145491502
NM_020964.3(EPG5):c.4909C>T (p.Leu1637Phe)
NM_020964.3(EPG5):c.4917T>C (p.Ile1639=) rs764725767
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 rs2511639891
NM_020964.3(EPG5):c.4952+19A>G rs1281883986
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 rs2511639976
NM_020964.3(EPG5):c.4952+8T>C rs759867662
NM_020964.3(EPG5):c.4953-13C>T rs780753100
NM_020964.3(EPG5):c.4953-15del rs2511626837
NM_020964.3(EPG5):c.4953-4A>G
NM_020964.3(EPG5):c.495A>C (p.Pro165=) rs2143788407
NM_020964.3(EPG5):c.4960G>A (p.Val1654Met) rs376511683
NM_020964.3(EPG5):c.4962G>A (p.Val1654=) rs2511626583
NM_020964.3(EPG5):c.4979A>G (p.Gln1660Arg) rs2511626409
NM_020964.3(EPG5):c.4983T>C (p.Pro1661=) rs2511626338
NM_020964.3(EPG5):c.4986A>C (p.Thr1662=) rs2511626288
NM_020964.3(EPG5):c.4989T>C (p.Pro1663=) rs759914920
NM_020964.3(EPG5):c.5016T>A (p.Leu1672=) rs2145474336
NM_020964.3(EPG5):c.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTTTCTTT (p.Thr1675delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer) rs2145474267
NM_020964.3(EPG5):c.5026A>G (p.Ile1676Val) rs2049251873
NM_020964.3(EPG5):c.5033A>C (p.Asp1678Ala) rs2049251601
NM_020964.3(EPG5):c.5040C>G (p.Val1680=) rs2511625698
NM_020964.3(EPG5):c.5043C>T (p.Ser1681=)
NM_020964.3(EPG5):c.5045_5057dup (p.Arg1686_His1687insTer) rs2511625549
NM_020964.3(EPG5):c.5052G>C (p.Thr1684=) rs199648768
NM_020964.3(EPG5):c.5056C>T (p.Arg1686Cys) rs746611209
NM_020964.3(EPG5):c.5064C>T (p.Pro1688=) rs2511625465
NM_020964.3(EPG5):c.5070A>C (p.Thr1690=) rs35073566
NM_020964.3(EPG5):c.5075A>T (p.Gln1692Leu) rs754304137
NM_020964.3(EPG5):c.5093T>C (p.Ile1698Thr)
NM_020964.3(EPG5):c.5107C>T (p.Gln1703Ter) rs2511625072
NM_020964.3(EPG5):c.5109+13del rs2511624951
NM_020964.3(EPG5):c.5109+15A>G rs765213554
NM_020964.3(EPG5):c.5109+17C>A rs2049249000
NM_020964.3(EPG5):c.510A>C (p.Ile170=) rs1383309349
NM_020964.3(EPG5):c.5110-17C>G rs1205647595
NM_020964.3(EPG5):c.5110-19T>C rs2511609608
NM_020964.3(EPG5):c.5110-2A>G rs756378362
NM_020964.3(EPG5):c.5110-4C>G rs1599490108
NM_020964.3(EPG5):c.5110-5C>T rs1244146142
NM_020964.3(EPG5):c.5112A>G (p.Val1704=) rs2511609391
NM_020964.3(EPG5):c.5121T>C (p.Ser1707=) rs2511609355
NM_020964.3(EPG5):c.5136G>A (p.Glu1712=)
NM_020964.3(EPG5):c.5179T>C (p.Cys1727Arg) rs2511608990
NM_020964.3(EPG5):c.5188C>T (p.Leu1730=)
NM_020964.3(EPG5):c.5190G>A (p.Leu1730=)
NM_020964.3(EPG5):c.5205T>A (p.Thr1735=) rs2145444187
NM_020964.3(EPG5):c.5208C>T (p.Pro1736=) rs1490567315
NM_020964.3(EPG5):c.5218C>A (p.Pro1740Thr) rs2145443901
NM_020964.3(EPG5):c.5232A>T (p.Ile1744=)
NM_020964.3(EPG5):c.5233C>G (p.Gln1745Glu) rs2511608601
NM_020964.3(EPG5):c.5250G>T (p.Val1750=) rs2511608414
NM_020964.3(EPG5):c.5268G>A (p.Glu1756=) rs2511608291
NM_020964.3(EPG5):c.526C>T (p.Gln176Ter)
NM_020964.3(EPG5):c.5271C>T (p.Asp1757=) rs2511608236
NM_020964.3(EPG5):c.5298A>C (p.Leu1766=)
NM_020964.3(EPG5):c.5301C>T (p.Thr1767=) rs1163327702
NM_020964.3(EPG5):c.5304+14C>T rs2511607838
NM_020964.3(EPG5):c.5304+15C>T rs2511607819
NM_020964.3(EPG5):c.5304+1G>A rs1422488942
NM_020964.3(EPG5):c.5304+8G>A rs2511607892
NM_020964.3(EPG5):c.5305-18G>A rs2049119366
NM_020964.3(EPG5):c.5305-20T>C
NM_020964.3(EPG5):c.5305-20_5305-19del rs2511593803
NM_020964.3(EPG5):c.5313T>A (p.Leu1771=)
NM_020964.3(EPG5):c.5319A>G (p.Gln1773=)
NM_020964.3(EPG5):c.531T>C (p.Asn177=) rs2512127691
NM_020964.3(EPG5):c.5322G>T (p.Trp1774Cys) rs2145423076
NM_020964.3(EPG5):c.5322_5323del (p.Trp1774fs)
NM_020964.3(EPG5):c.5322del (p.Trp1774fs) rs2511593392
NM_020964.3(EPG5):c.5327G>C (p.Ser1776Thr) rs2511593318
NM_020964.3(EPG5):c.5344C>T (p.Leu1782=) rs1460858428
NM_020964.3(EPG5):c.5353C>T (p.Arg1785Cys) rs778882158
NM_020964.3(EPG5):c.5365C>T (p.Leu1789=) rs2511592899
NM_020964.3(EPG5):c.5370G>A (p.Glu1790=) rs2049117452
NM_020964.3(EPG5):c.5371T>C (p.Ser1791Pro) rs2049117384
NM_020964.3(EPG5):c.5382_5388del (p.Ala1795fs) rs2145422618
NM_020964.3(EPG5):c.5384C>T (p.Ala1795Val) rs2511592707
NM_020964.3(EPG5):c.5385A>C (p.Ala1795=) rs376809635
NM_020964.3(EPG5):c.5389dup (p.Thr1797fs) rs2511592639
NM_020964.3(EPG5):c.5390C>G (p.Thr1797Ser) rs1411482327
NM_020964.3(EPG5):c.5399G>T (p.Gly1800Val) rs2511592480
NM_020964.3(EPG5):c.5403T>A (p.Leu1801=) rs751446448
NM_020964.3(EPG5):c.5403T>C (p.Leu1801=) rs751446448
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu) rs2511592358
NM_020964.3(EPG5):c.5409A>G (p.Pro1803=)
NM_020964.3(EPG5):c.5418T>C (p.Asp1806=) rs2511592197
NM_020964.3(EPG5):c.5427G>A (p.Met1809Ile) rs1311100994
NM_020964.3(EPG5):c.5433T>C (p.Phe1811=) rs776113246
NM_020964.3(EPG5):c.5436T>C (p.Asn1812=) rs2049115623
NM_020964.3(EPG5):c.543C>G (p.Asp181Glu)
NM_020964.3(EPG5):c.5451C>T (p.His1817=) rs2511591819
NM_020964.3(EPG5):c.546A>G (p.Lys182=) rs2050989546
NM_020964.3(EPG5):c.5472C>G (p.Tyr1824Ter) rs909725535
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5490C>A (p.Tyr1830Ter) rs2511591415
NM_020964.3(EPG5):c.5490C>T (p.Tyr1830=) rs2511591415
NM_020964.3(EPG5):c.5500C>A (p.Leu1834Ile) rs2049113990
NM_020964.3(EPG5):c.5518+14T>C rs2511590945
NM_020964.3(EPG5):c.5518+7G>A rs1264216973
NM_020964.3(EPG5):c.5518+7_5518+8del rs2511591007
NM_020964.3(EPG5):c.5518+8T>G rs757298239
NM_020964.3(EPG5):c.5518+9C>T rs747598069
NM_020964.3(EPG5):c.5519-12C>G rs1409266866
NM_020964.3(EPG5):c.5519-19T>C rs2511578453
NM_020964.3(EPG5):c.5519-20_5519-19del rs2511578470
NM_020964.3(EPG5):c.552C>T (p.Gly184=) rs1599649645
NM_020964.3(EPG5):c.5532G>A (p.Gln1844=) rs2145406202
NM_020964.3(EPG5):c.5536C>T (p.Leu1846=) rs2049067717
NM_020964.3(EPG5):c.5538G>C (p.Leu1846=) rs979354405
NM_020964.3(EPG5):c.5543_5545delinsACTCTGAGAGCTCAGA (p.Pro1848fs)
NM_020964.3(EPG5):c.5544C>T (p.Pro1848=) rs578073131
NM_020964.3(EPG5):c.5544del (p.Glu1849fs) rs2511577837
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.5556G>A (p.Lys1852=) rs1323809959
NM_020964.3(EPG5):c.5563C>G (p.Leu1855Val) rs1023469699
NM_020964.3(EPG5):c.5564_5565del (p.Leu1855fs) rs2511577420
NM_020964.3(EPG5):c.5567G>A (p.Arg1856Lys)
NM_020964.3(EPG5):c.5570C>T (p.Ala1857Val) rs1210711478
NM_020964.3(EPG5):c.5571C>G (p.Ala1857=) rs748031106
NM_020964.3(EPG5):c.5571C>T (p.Ala1857=) rs748031106
NM_020964.3(EPG5):c.5574G>A (p.Leu1858=) rs1375473975
NM_020964.3(EPG5):c.5576G>T (p.Gly1859Val) rs1450706583
NM_020964.3(EPG5):c.5576del (p.Gly1859fs) rs1475078130
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.5592C>G (p.Ser1864Arg) rs2145404973
NM_020964.3(EPG5):c.5601G>A (p.Gln1867=) rs2145404866
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) rs2511576643
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.5623G>T (p.Ala1875Ser) rs748003451
NM_020964.3(EPG5):c.5625C>A (p.Ala1875=) rs1187266900
NM_020964.3(EPG5):c.5625C>T (p.Ala1875=) rs1187266900
NM_020964.3(EPG5):c.5634C>T (p.Pro1878=) rs768384188
NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn) rs1213600316
NM_020964.3(EPG5):c.5637C>G (p.Ser1879Arg) rs2049060710
NM_020964.3(EPG5):c.5646T>C (p.Asp1882=) rs2511576125
NM_020964.3(EPG5):c.5648C>T (p.Ala1883Val) rs750003350
NM_020964.3(EPG5):c.5649T>A (p.Ala1883=) rs1226152505
NM_020964.3(EPG5):c.5658A>G (p.Ser1886=) rs1447014980
NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs) rs2049058963
NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs) rs2511575856
NM_020964.3(EPG5):c.5661C>T (p.Asp1887=)
NM_020964.3(EPG5):c.5667+4T>C rs2049058336
NM_020964.3(EPG5):c.5667+7A>G rs2511575776
NM_020964.3(EPG5):c.5667+8G>A rs2511575758
NM_020964.3(EPG5):c.5668-12T>G rs2511568736
NM_020964.3(EPG5):c.5668-15A>C rs755258249
NM_020964.3(EPG5):c.5669dup (p.Met1891fs) rs2511568533
NM_020964.3(EPG5):c.5684A>G (p.Gln1895Arg)
NM_020964.3(EPG5):c.5689C>T (p.Leu1897Phe) rs2049037342
NM_020964.3(EPG5):c.5694A>C (p.Ser1898=) rs2511568287
NM_020964.3(EPG5):c.5700T>G (p.Phe1900Leu) rs34545102
NM_020964.3(EPG5):c.5703T>C (p.Phe1901=)
NM_020964.3(EPG5):c.5704dup (p.Tyr1902fs) rs760768451
NM_020964.3(EPG5):c.5718A>G (p.Leu1906=) rs2511567977
NM_020964.3(EPG5):c.5737A>T (p.Ser1913Cys) rs1555666104
NM_020964.3(EPG5):c.573G>A (p.Val191=) rs2512127198
NM_020964.3(EPG5):c.5748A>G (p.Leu1916=) rs1211859486
NM_020964.3(EPG5):c.5761A>T (p.Ser1921Cys) rs2145393709
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=) rs2511567315
NM_020964.3(EPG5):c.5814G>A (p.Leu1938=) rs2511566951
NM_020964.3(EPG5):c.5823A>G (p.Leu1941=) rs2145393184
NM_020964.3(EPG5):c.582del (p.Asn194fs) rs2512127093
NM_020964.3(EPG5):c.5832C>G (p.Thr1944=)
NM_020964.3(EPG5):c.5832C>T (p.Thr1944=) rs369519447
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del) rs2511566619
NM_020964.3(EPG5):c.5841C>T (p.Ala1947=) rs2511566682
NM_020964.3(EPG5):c.5847C>T (p.Asp1949=) rs770537822
NM_020964.3(EPG5):c.5853T>G (p.Thr1951=) rs2511566541
NM_020964.3(EPG5):c.5858G>A (p.Ser1953Asn) rs2511566461
NM_020964.3(EPG5):c.5869+10T>A rs780437612
NM_020964.3(EPG5):c.5869+10T>C rs780437612
NM_020964.3(EPG5):c.5869+18C>A rs202231195
NM_020964.3(EPG5):c.5869+19G>A rs751631563
NM_020964.3(EPG5):c.5869+19G>T rs751631563
NM_020964.3(EPG5):c.5869+9C>T rs749666340
NM_020964.3(EPG5):c.5870-15T>A rs2511561748
NM_020964.3(EPG5):c.5870-18G>A rs2049019136
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.5870-7T>G
NM_020964.3(EPG5):c.5883A>G (p.Leu1961=) rs753759274
NM_020964.3(EPG5):c.5885A>G (p.His1962Arg) rs1295248603
NM_020964.3(EPG5):c.5889A>C (p.Ser1963=) rs1162516634
NM_020964.3(EPG5):c.5901G>A (p.Gln1967=) rs1412266984
NM_020964.3(EPG5):c.5907T>C (p.Phe1969=) rs2511561271
NM_020964.3(EPG5):c.5913A>G (p.Pro1971=) rs2511561220
NM_020964.3(EPG5):c.5913A>T (p.Pro1971=) rs2511561220
NM_020964.3(EPG5):c.5929G>C (p.Glu1977Gln) rs750230003
NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys) rs150214973
NM_020964.3(EPG5):c.5937C>T (p.Asn1979=) rs150214973
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
NM_020964.3(EPG5):c.5940A>G (p.Glu1980=) rs2511560973
NM_020964.3(EPG5):c.5942+11T>C rs2511560762
NM_020964.3(EPG5):c.5942+15A>G rs2511560736
NM_020964.3(EPG5):c.5942+19A>G rs2511560679
NM_020964.3(EPG5):c.5942+7A>G rs1568114373
NM_020964.3(EPG5):c.5943-10T>C rs751169506
NM_020964.3(EPG5):c.5943-14T>C rs1289958063
NM_020964.3(EPG5):c.5943-17G>T
NM_020964.3(EPG5):c.5943-2A>G rs2511548203
NM_020964.3(EPG5):c.5943-4A>C rs2511548214
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.595_607del (p.Ser199fs)
NM_020964.3(EPG5):c.5960A>T (p.Tyr1987Phe) rs2145364969
NM_020964.3(EPG5):c.5962_5968del (p.Tyr1987_Pro1988insTer) rs2511547936
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5970A>G (p.Leu1990=) rs1368807666
NM_020964.3(EPG5):c.5971G>T (p.Glu1991Ter) rs2511547897
NM_020964.3(EPG5):c.5972A>G (p.Glu1991Gly) rs2048970400
NM_020964.3(EPG5):c.5976T>C (p.Ser1992=) rs1599468820
NM_020964.3(EPG5):c.5985G>A (p.Val1995=) rs2145364689
NM_020964.3(EPG5):c.5988G>A (p.Val1996=) rs747208324
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6005_6006dup (p.Leu2003fs)
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 rs2511547052
NM_020964.3(EPG5):c.6049+19G>A rs2511546893
NM_020964.3(EPG5):c.6049+2T>C rs745754388
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_020964.3(EPG5):c.6050-4C>G rs2145311347
NM_020964.3(EPG5):c.6050-6T>C rs2511515278
NM_020964.3(EPG5):c.6052A>T (p.Lys2018Ter)
NM_020964.3(EPG5):c.6054G>A (p.Lys2018=) rs1409919994
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=) rs762111149
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.6102T>C (p.Tyr2034=) rs2048852831
NM_020964.3(EPG5):c.6111A>G (p.Ala2037=) rs1055996236
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.6153C>T (p.Phe2051=) rs1325744104
NM_020964.3(EPG5):c.6155A>G (p.His2052Arg) rs777644749
NM_020964.3(EPG5):c.6156T>C (p.His2052=) rs1460224042
NM_020964.3(EPG5):c.6166C>G (p.Arg2056Gly) rs116076204
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6177A>G (p.Pro2059=) rs2511513818
NM_020964.3(EPG5):c.6184G>T (p.Asp2062Tyr) rs1395832994
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.6218del (p.Phe2073fs) rs2511513261
NM_020964.3(EPG5):c.6224A>T (p.Lys2075Ile) rs1439300133
NM_020964.3(EPG5):c.6225+16C>T rs2511512726
NM_020964.3(EPG5):c.6225+19G>A rs1178430780
NM_020964.3(EPG5):c.6225+19del
NM_020964.3(EPG5):c.6225+2T>C rs2511513107
NM_020964.3(EPG5):c.6225+6C>T rs2511513029
NM_020964.3(EPG5):c.6225+9_6225+11del rs2511512848
NM_020964.3(EPG5):c.6226-12A>G rs2511493248
NM_020964.3(EPG5):c.6226-14T>C rs2511493277
NM_020964.3(EPG5):c.6226-8dup rs2511493206
NM_020964.3(EPG5):c.6231A>G (p.Glu2077=) rs2145278065
NM_020964.3(EPG5):c.6237A>G (p.Gly2079=) rs768380173
NM_020964.3(EPG5):c.6246G>A (p.Lys2082=) rs2511492907
NM_020964.3(EPG5):c.6249C>T (p.Ser2083=) rs775069400
NM_020964.3(EPG5):c.624G>A (p.Gln208=) rs538841155
NM_020964.3(EPG5):c.6252T>C (p.Cys2084=) rs2511492857
NM_020964.3(EPG5):c.6253T>G (p.Phe2085Val) rs769470632
NM_020964.3(EPG5):c.6262T>C (p.Leu2088=) rs2048776724
NM_020964.3(EPG5):c.6283G>A (p.Val2095Ile) rs2048776242
NM_020964.3(EPG5):c.6287A>C (p.Asn2096Thr) rs141854483
NM_020964.3(EPG5):c.63+14C>A rs757703100
NM_020964.3(EPG5):c.63+14C>T rs757703100
NM_020964.3(EPG5):c.63+15C>G rs1599672854
NM_020964.3(EPG5):c.63+15del rs11301517
NM_020964.3(EPG5):c.63+16del rs1568197898
NM_020964.3(EPG5):c.63+17C>G rs764436308
NM_020964.3(EPG5):c.63+8T>A rs1338572329
NM_020964.3(EPG5):c.63+9C>T rs781732575
NM_020964.3(EPG5):c.6312C>A (p.Ala2104=) rs761751258
NM_020964.3(EPG5):c.631A>T (p.Arg211Ter) rs1187307540
NM_020964.3(EPG5):c.6321C>T (p.Ser2107=) rs1005071205
NM_020964.3(EPG5):c.6330C>T (p.His2110=) rs1270117192
NM_020964.3(EPG5):c.633A>G (p.Arg211=) rs2512126424
NM_020964.3(EPG5):c.6342C>T (p.Arg2114=)
NM_020964.3(EPG5):c.6345C>T (p.Ser2115=) rs2511491884
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs) rs1599447883
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) rs2511491486
NM_020964.3(EPG5):c.6378A>G (p.Leu2126=) rs779296458
NM_020964.3(EPG5):c.6379T>C (p.Leu2127=) rs2511491449
NM_020964.3(EPG5):c.64-13A>G rs2512133458
NM_020964.3(EPG5):c.64-18T>A rs2512133557
NM_020964.3(EPG5):c.64-3del
NM_020964.3(EPG5):c.64-8G>A rs2512133428
NM_020964.3(EPG5):c.6410_6411del (p.Thr2137fs) rs2511491127
NM_020964.3(EPG5):c.6411+11G>A rs776359537
NM_020964.3(EPG5):c.6411+12A>C
NM_020964.3(EPG5):c.6411+15C>T rs2511490993
NM_020964.3(EPG5):c.6411+17T>C rs1447882350
NM_020964.3(EPG5):c.6411+19T>C rs2511490957
NM_020964.3(EPG5):c.6412-17A>G
NM_020964.3(EPG5):c.6412-20A>C rs2511487628
NM_020964.3(EPG5):c.6419C>G (p.Pro2140Arg) rs1037411579
NM_020964.3(EPG5):c.6419dup (p.Leu2141fs) rs2511487515
NM_020964.3(EPG5):c.641A>C (p.Lys214Thr) rs571324055
NM_020964.3(EPG5):c.6421T>G (p.Leu2141Val) rs2145270811
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.644T>G (p.Leu215Arg) rs2512126319
NM_020964.3(EPG5):c.6453T>G (p.Leu2151=) rs2511487221
NM_020964.3(EPG5):c.6456A>C (p.Ser2152=) rs760372673
NM_020964.3(EPG5):c.6456A>G (p.Ser2152=) rs760372673
NM_020964.3(EPG5):c.6483C>T (p.Tyr2161=) rs1413653727
NM_020964.3(EPG5):c.6487A>C (p.Ser2163Arg) rs2511486996
NM_020964.3(EPG5):c.6489T>C (p.Ser2163=) rs1180674025
NM_020964.3(EPG5):c.6494T>G (p.Leu2165Arg) rs2511486929
NM_020964.3(EPG5):c.6508A>G (p.Ser2170Gly) rs2145269888
NM_020964.3(EPG5):c.6519G>C (p.Pro2173=) rs762400421
NM_020964.3(EPG5):c.6531C>T (p.Ile2177=) rs2511486615
NM_020964.3(EPG5):c.6534G>C (p.Leu2178=)
NM_020964.3(EPG5):c.6541G>T (p.Glu2181Ter) rs755840290
NM_020964.3(EPG5):c.6549T>A (p.Tyr2183Ter)
NM_020964.3(EPG5):c.6549T>C (p.Tyr2183=) rs767070718
NM_020964.3(EPG5):c.655T>C (p.Leu219=) rs2512126151
NM_020964.3(EPG5):c.6560T>C (p.Ile2187Thr) rs761443059
NM_020964.3(EPG5):c.6574A>G (p.Lys2192Glu) rs2511486365
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
NM_020964.3(EPG5):c.6579G>A (p.Val2193=) rs2511486331
NM_020964.3(EPG5):c.6585G>A (p.Ala2195=) rs763405574
NM_020964.3(EPG5):c.6591T>C (p.Leu2197=)
NM_020964.3(EPG5):c.6594T>C (p.Ser2198=) rs2511486228
NM_020964.3(EPG5):c.6595A>G (p.Ile2199Val) rs1555662276
NM_020964.3(EPG5):c.6621+12G>A rs1177854768
NM_020964.3(EPG5):c.6621+12G>C
NM_020964.3(EPG5):c.6621+13G>C rs781195592
NM_020964.3(EPG5):c.6621+14T>A rs534033232
NM_020964.3(EPG5):c.6621+14del rs2547944088
NM_020964.3(EPG5):c.6621+19T>C rs2511485947
NM_020964.3(EPG5):c.6621+4A>C rs2511486047
NM_020964.3(EPG5):c.6621+9A>G rs2511486019
NM_020964.3(EPG5):c.6622-12T>C rs1237223405
NM_020964.3(EPG5):c.6622-14_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-15_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-16T>A rs2511479737
NM_020964.3(EPG5):c.6622-19T>A rs2511479782
NM_020964.3(EPG5):c.6622-19T>G rs2511479782
NM_020964.3(EPG5):c.6622-19_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-20_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-22_6622-7dup rs11333207
NM_020964.3(EPG5):c.6622-23_6622-12dup rs11333207
NM_020964.3(EPG5):c.6622-23_6622-13dup rs11333207
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020964.3(EPG5):c.6622-4T>G rs1599442682
NM_020964.3(EPG5):c.6622-5G>A rs1253564702
NM_020964.3(EPG5):c.6622-6G>T rs1309916888
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_020964.3(EPG5):c.6622-9_6622-7del rs11333207
NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu) rs2511479250
NM_020964.3(EPG5):c.6641A>G (p.Gln2214Arg) rs2145257667
NM_020964.3(EPG5):c.6642A>G (p.Gln2214=) rs745713018
NM_020964.3(EPG5):c.6645T>G (p.Ala2215=)
NM_020964.3(EPG5):c.6658A>G (p.Met2220Val) rs1431261711
NM_020964.3(EPG5):c.6678C>T (p.Thr2226=) rs752192220
NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln) rs2145257250
NM_020964.3(EPG5):c.6682G>A (p.Glu2228Lys) rs2511478804
NM_020964.3(EPG5):c.6687A>G (p.Gln2229=) rs1212415121
NM_020964.3(EPG5):c.6689del (p.Asn2230fs) rs1568101785
NM_020964.3(EPG5):c.6717A>G (p.Glu2239=) rs766604013
NM_020964.3(EPG5):c.671_672insCAGC (p.Gly225fs) rs2512126053
NM_020964.3(EPG5):c.6720G>A (p.Gln2240=)
NM_020964.3(EPG5):c.6723A>G (p.Glu2241=) rs2145256783
NM_020964.3(EPG5):c.6724del (p.Met2242fs) rs769440447
NM_020964.3(EPG5):c.6725T>C (p.Met2242Thr) rs2511478364
NM_020964.3(EPG5):c.6730A>G (p.Lys2244Glu) rs560080785
NM_020964.3(EPG5):c.6735C>G (p.Leu2245=) rs773373851
NM_020964.3(EPG5):c.6744T>C (p.Asp2248=) rs774538530
NM_020964.3(EPG5):c.6748A>G (p.Ile2250Val)
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_020964.3(EPG5):c.6762G>A (p.Pro2254=) rs776495551
NM_020964.3(EPG5):c.6764C>T (p.Pro2255Leu)
NM_020964.3(EPG5):c.6766+10C>T rs2511477954
NM_020964.3(EPG5):c.6766+19G>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 rs747750754
NM_020964.3(EPG5):c.6767-16T>A rs2511459894
NM_020964.3(EPG5):c.6767-17G>C rs2511459907
NM_020964.3(EPG5):c.6767-20T>A rs2511459938
NM_020964.3(EPG5):c.6768C>T (p.Asp2256=) rs780474089
NM_020964.3(EPG5):c.6774C>T (p.Asp2258=) rs2511459779
NM_020964.3(EPG5):c.6779A>G (p.Gln2260Arg) rs1161045934
NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del) rs773704123
NM_020964.3(EPG5):c.6803G>A (p.Ser2268Asn) rs1265568552
NM_020964.3(EPG5):c.6807C>G (p.Leu2269=) rs2511459569
NM_020964.3(EPG5):c.6810T>C (p.Phe2270=) rs2145210565
NM_020964.3(EPG5):c.6812T>A (p.Met2271Lys) rs2511459505
NM_020964.3(EPG5):c.682C>G (p.Pro228Ala)
NM_020964.3(EPG5):c.6853G>T (p.Ala2285Ser) rs2048606315
NM_020964.3(EPG5):c.6855A>G (p.Ala2285=)
NM_020964.3(EPG5):c.6874A>G (p.Ile2292Val) rs2511459070
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.6891C>T (p.Gly2297=)
NM_020964.3(EPG5):c.6894A>G (p.Gln2298=) rs761643130
NM_020964.3(EPG5):c.6898dup (p.Met2300fs) rs1161436837
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) rs1298870369
NM_020964.3(EPG5):c.6945C>T (p.Ser2315=) rs1476251515
NM_020964.3(EPG5):c.6948G>A (p.Leu2316=) rs1258289387
NM_020964.3(EPG5):c.6960C>T (p.Arg2320=)
NM_020964.3(EPG5):c.6975T>C (p.Thr2325=) rs2511458411
NM_020964.3(EPG5):c.6984C>A (p.Ala2328=) rs2048602014
NM_020964.3(EPG5):c.6990C>T (p.Ile2330=) rs2511458310
NM_020964.3(EPG5):c.6996C>G (p.Ala2332=) rs149296561
NM_020964.3(EPG5):c.6C>A (p.Ala2=) rs2051287134
NM_020964.3(EPG5):c.6C>G (p.Ala2=) rs2051287134
NM_020964.3(EPG5):c.7006G>C (p.Glu2336Gln) rs1392366444
NM_020964.3(EPG5):c.7007A>C (p.Glu2336Ala)
NM_020964.3(EPG5):c.7009+16C>T rs1168864206
NM_020964.3(EPG5):c.7010-3del rs2511452326
NM_020964.3(EPG5):c.7010-9T>C rs755160250
NM_020964.3(EPG5):c.7013C>T (p.Pro2338Leu) rs2048570351
NM_020964.3(EPG5):c.7056T>C (p.Leu2352=) rs2145198664
NM_020964.3(EPG5):c.7065C>G (p.Pro2355=) rs551726903
NM_020964.3(EPG5):c.7086C>T (p.Phe2362=) rs765931166
NM_020964.3(EPG5):c.7089G>A (p.Leu2363=) rs2048568464
NM_020964.3(EPG5):c.7092G>A (p.Gln2364=)
NM_020964.3(EPG5):c.7101C>T (p.Leu2367=) rs2511451683
NM_020964.3(EPG5):c.7110C>A (p.Gly2370=) rs1419108589
NM_020964.3(EPG5):c.7113T>C (p.Ser2371=) rs2145197961
NM_020964.3(EPG5):c.7149A>G (p.Leu2383=) rs2511451207
NM_020964.3(EPG5):c.714C>T (p.Arg238=) rs2512125451
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter) rs373944025
NM_020964.3(EPG5):c.7169G>A (p.Arg2390Lys) rs2511451011
NM_020964.3(EPG5):c.7170G>A (p.Arg2390=) rs1344860554
NM_020964.3(EPG5):c.7183G>A (p.Val2395Met) rs753475634
NM_020964.3(EPG5):c.7185G>T (p.Val2395=) rs2511450920
NM_020964.3(EPG5):c.7191C>A (p.Leu2397=) rs766126331
NM_020964.3(EPG5):c.7210G>A (p.Glu2404Lys) rs2145197221
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918
NM_020964.3(EPG5):c.7226+12C>T rs2511450506
NM_020964.3(EPG5):c.7226+17G>C rs2511450462
NM_020964.3(EPG5):c.7226+9G>C rs769882885
NM_020964.3(EPG5):c.7227-11G>A rs766878828
NM_020964.3(EPG5):c.7227-14G>A rs749970560
NM_020964.3(EPG5):c.7227-18del rs2511447971
NM_020964.3(EPG5):c.7227-9C>T rs2511447840
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_020964.3(EPG5):c.7245A>G (p.Ala2415=) rs1245397728
NM_020964.3(EPG5):c.7257G>A (p.Leu2419=) rs1555660179
NM_020964.3(EPG5):c.7266C>G (p.His2422Gln) rs2048553679
NM_020964.3(EPG5):c.727T>C (p.Tyr243His) rs2050985627
NM_020964.3(EPG5):c.7281C>G (p.Leu2427=) rs747081899
NM_020964.3(EPG5):c.7286T>A (p.Leu2429His) rs2048553005
NM_020964.3(EPG5):c.7294A>T (p.Thr2432Ser) rs768694584
NM_020964.3(EPG5):c.729C>T (p.Tyr243=) rs767311741
NM_020964.3(EPG5):c.7305T>C (p.Asn2435=)
NM_020964.3(EPG5):c.7307A>G (p.Asp2436Gly) rs2048551891
NM_020964.3(EPG5):c.7320A>G (p.Thr2440=) rs2511446866
NM_020964.3(EPG5):c.7334G>A (p.Arg2445Gln) rs756772032
NM_020964.3(EPG5):c.7344C>G (p.Leu2448=) rs751044292
NM_020964.3(EPG5):c.7350T>G (p.Val2450=) rs764623551
NM_020964.3(EPG5):c.7372G>T (p.Ala2458Ser) rs2048549989
NM_020964.3(EPG5):c.7373C>T (p.Ala2458Val) rs2511446486
NM_020964.3(EPG5):c.7380G>A (p.Glu2460=) rs2511446439
NM_020964.3(EPG5):c.7383A>G (p.Arg2461=) rs2511446390
NM_020964.3(EPG5):c.7398C>A (p.Ile2466=) rs2511446281
NM_020964.3(EPG5):c.7404G>A (p.Gly2468=) rs2511446211
NM_020964.3(EPG5):c.7413G>A (p.Gly2471=)
NM_020964.3(EPG5):c.7422G>A (p.Arg2474=) rs1036226828
NM_020964.3(EPG5):c.7434G>A (p.Leu2478=) rs1299705592
NM_020964.3(EPG5):c.743C>T (p.Ser248Phe) rs1221979675
NM_020964.3(EPG5):c.7440C>G (p.Asn2480Lys) rs2048548037
NM_020964.3(EPG5):c.7442+11G>T rs368361879
NM_020964.3(EPG5):c.7442+19A>G
NM_020964.3(EPG5):c.7442+1G>A
NM_020964.3(EPG5):c.7443-11T>C rs2511433765
NM_020964.3(EPG5):c.7443-19C>T
NM_020964.3(EPG5):c.7443-621A>G rs930302721
NM_020964.3(EPG5):c.7443-8T>C rs2511433722
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.7507A>G (p.Ile2503Val) rs2048500326
NM_020964.3(EPG5):c.7510C>T (p.Arg2504Cys) rs921463655
NM_020964.3(EPG5):c.7518G>T (p.Arg2506Ser)
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.7530A>G (p.Glu2510=)
NM_020964.3(EPG5):c.7538T>C (p.Leu2513Pro) rs2145172527
NM_020964.3(EPG5):c.7545del (p.Ala2517fs) rs2145172418
NM_020964.3(EPG5):c.7557+14A>G rs2048499017
NM_020964.3(EPG5):c.7557+16G>A rs771690475
NM_020964.3(EPG5):c.7557+19G>C
NM_020964.3(EPG5):c.7557+20G>C rs778449253
NM_020964.3(EPG5):c.7557+5G>C rs982979789
NM_020964.3(EPG5):c.7557+7A>G rs760463372
NM_020964.3(EPG5):c.7558-15T>C rs887421870
NM_020964.3(EPG5):c.7558-18A>G rs757460285
NM_020964.3(EPG5):c.7558-18A>T rs757460285
NM_020964.3(EPG5):c.7560T>A (p.Ala2520=) rs1247715185
NM_020964.3(EPG5):c.7561C>T (p.Leu2521=)
NM_020964.3(EPG5):c.7565A>G (p.Asn2522Ser) rs2048438947
NM_020964.3(EPG5):c.7568C>G (p.Ala2523Gly) rs2048438822
NM_020964.3(EPG5):c.7603G>A (p.Glu2535Lys) rs2511418013
NM_020964.3(EPG5):c.7612G>T (p.Asp2538Tyr) rs748731055
NM_020964.3(EPG5):c.7617A>G (p.Gln2539=) rs2511417917
NM_020964.3(EPG5):c.7626A>G (p.Gln2542=) rs1426275955
NM_020964.3(EPG5):c.7627G>A (p.Ala2543Thr) rs1172390303
NM_020964.3(EPG5):c.762A>G (p.Pro254=) rs2512124834
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) rs2511417599
NM_020964.3(EPG5):c.7674A>G (p.Lys2558=) rs1555658766
NM_020964.3(EPG5):c.7680C>T (p.Phe2560=) rs2511417553
NM_020964.3(EPG5):c.7684G>T (p.Ala2562Ser) rs757431427
NM_020964.3(EPG5):c.7685C>G (p.Ala2562Gly) rs2145146931
NM_020964.3(EPG5):c.7686T>C (p.Ala2562=) rs2511417524
NM_020964.3(EPG5):c.7689T>G (p.Leu2563=) rs2048437173
NM_020964.3(EPG5):c.7690C>T (p.Leu2564Phe) rs2145146898
NM_020964.3(EPG5):c.7704G>A (p.Leu2568=) rs553920789
NM_020964.3(EPG5):c.7704G>C (p.Leu2568=) rs553920789
NM_020964.3(EPG5):c.770A>G (p.Lys257Arg)
NM_020964.3(EPG5):c.7716G>T (p.Val2572=) rs2048436666
NM_020964.3(EPG5):c.7725G>A (p.Leu2575=) rs2511417334
NM_020964.3(EPG5):c.7735C>T (p.Arg2579Ter) rs1171989598
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln) rs763628666
NM_020964.3(EPG5):c.787T>C (p.Leu263=) rs2512124558
NM_020964.3(EPG5):c.805C>T (p.Leu269=)
NM_020964.3(EPG5):c.814G>A (p.Val272Ile) rs367846863
NM_020964.3(EPG5):c.830A>G (p.Glu277Gly) rs2050982781
NM_020964.3(EPG5):c.856G>A (p.Asp286Asn) rs2512123762
NM_020964.3(EPG5):c.870T>C (p.Phe290=) rs2050981551
NM_020964.3(EPG5):c.873T>C (p.Tyr291=) rs766491139
NM_020964.3(EPG5):c.909A>G (p.Gln303=) rs2050980655
NM_020964.3(EPG5):c.912G>A (p.Leu304=) rs2143780754
NM_020964.3(EPG5):c.913C>T (p.Leu305=) rs2143780716
NM_020964.3(EPG5):c.916C>T (p.Leu306=)
NM_020964.3(EPG5):c.964A>G (p.Lys322Glu) rs1294882967
NM_020964.3(EPG5):c.969T>C (p.Ser323=)
NM_020964.3(EPG5):c.971G>A (p.Arg324Gln) rs769257858
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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