ClinVar Miner

List of variants studied for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome

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ClinVar version:
Total variants: 895
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000414.4(HSD17B4):c.740-16T>G rs35416500 0.00789
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) rs145728297 0.00036
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val) rs137946207 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000414.4(HSD17B4):c.1503+12T>G rs111239597 0.00033
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His) rs35281104 0.00029
NM_000414.4(HSD17B4):c.822G>A (p.Lys274=) rs141216594 0.00029
NM_000414.4(HSD17B4):c.622+15T>A rs201280286 0.00024
NM_000414.4(HSD17B4):c.1768-19T>G rs542422357 0.00023
NM_000414.4(HSD17B4):c.2122-16C>T rs199680208 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=) rs369449821 0.00019
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg) rs142889209 0.00013
NM_000414.4(HSD17B4):c.1204G>A (p.Ala402Thr) rs780430704 0.00013
NM_000414.4(HSD17B4):c.588G>A (p.Ala196=) rs748937758 0.00013
NM_000414.4(HSD17B4):c.1058C>T (p.Ala353Val) rs138560200 0.00012
NM_000414.4(HSD17B4):c.1199A>G (p.Asn400Ser) rs374161061 0.00012
NM_000414.4(HSD17B4):c.1262G>A (p.Gly421Glu) rs139500402 0.00011
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) rs149283499 0.00011
NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=) rs746787900 0.00010
NM_000414.4(HSD17B4):c.1574-19G>A rs371700181 0.00010
NM_000414.4(HSD17B4):c.349+13T>C rs200513633 0.00010
NM_000414.4(HSD17B4):c.628G>A (p.Val210Met) rs1017610439 0.00010
NM_000414.4(HSD17B4):c.1209+12A>G rs779377798 0.00009
NM_000414.4(HSD17B4):c.1759C>G (p.Gln587Glu) rs138507337 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000414.4(HSD17B4):c.330G>A (p.Arg110=) rs181010091 0.00009
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00008
NM_000414.4(HSD17B4):c.112+11G>A rs775970480 0.00007
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000414.4(HSD17B4):c.2041A>G (p.Lys681Glu) rs139348491 0.00006
NM_000414.4(HSD17B4):c.228G>A (p.Val76=) rs1433204886 0.00006
NM_000414.4(HSD17B4):c.303-11T>A rs767897278 0.00006
NM_000414.4(HSD17B4):c.622+5G>A rs536487449 0.00006
NM_000414.4(HSD17B4):c.1000C>G (p.Pro334Ala) rs143750360 0.00005
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro) rs199659543 0.00005
NM_000414.4(HSD17B4):c.675T>G (p.Leu225=) rs771467784 0.00005
NM_000414.4(HSD17B4):c.112+8G>A rs770343200 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000414.4(HSD17B4):c.1680+18C>T rs372870480 0.00004
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=) rs374169186 0.00004
NM_000414.4(HSD17B4):c.54G>A (p.Gly18=) rs769227162 0.00004
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser) rs372914814 0.00004
NM_000414.4(HSD17B4):c.681C>T (p.His227=) rs371111330 0.00004
NM_000414.4(HSD17B4):c.957A>G (p.Thr319=) rs748258737 0.00004
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346 0.00003
NM_000414.4(HSD17B4):c.112+15T>G rs763381588 0.00003
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=) rs370055428 0.00003
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875 0.00003
NM_000414.4(HSD17B4):c.1334-18C>T rs777673978 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.1855-8G>A rs369600555 0.00003
NM_000414.4(HSD17B4):c.195A>G (p.Arg65=) rs555583311 0.00003
NM_000414.4(HSD17B4):c.264T>C (p.Asp88=) rs763999607 0.00003
NM_000414.4(HSD17B4):c.280+10C>G rs201014485 0.00003
NM_000414.4(HSD17B4):c.740-5A>C rs779586877 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000414.4(HSD17B4):c.766A>G (p.Ile256Val) rs768345875 0.00003
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr) rs779675068 0.00003
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389 0.00003
NM_000414.4(HSD17B4):c.99A>G (p.Gly33=) rs749165759 0.00003
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile) rs747214551 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.1262-10T>G rs753171904 0.00002
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp) rs780820166 0.00002
NM_000414.4(HSD17B4):c.1335C>A (p.Val445=) rs749383778 0.00002
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln) rs901553037 0.00002
NM_000414.4(HSD17B4):c.1449C>T (p.Ala483=) rs770218114 0.00002
NM_000414.4(HSD17B4):c.1503+9G>A rs764210806 0.00002
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000414.4(HSD17B4):c.1848C>G (p.Pro616=) rs369575384 0.00002
NM_000414.4(HSD17B4):c.1855-6T>C rs748702095 0.00002
NM_000414.4(HSD17B4):c.1857C>T (p.Gly619=) rs368565759 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.1881A>G (p.Val627=) rs201053163 0.00002
NM_000414.4(HSD17B4):c.2181G>C (p.Gln727His) rs776945690 0.00002
NM_000414.4(HSD17B4):c.241A>G (p.Lys81Glu) rs1026521515 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 0.00002
NM_000414.4(HSD17B4):c.27G>A (p.Gly9=) rs370888351 0.00002
NM_000414.4(HSD17B4):c.351T>A (p.Asp117Glu) rs200667890 0.00002
NM_000414.4(HSD17B4):c.353T>C (p.Ile118Thr) rs139427751 0.00002
NM_000414.4(HSD17B4):c.376G>A (p.Gly126Ser) rs769066826 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000414.4(HSD17B4):c.39G>T (p.Leu13=) rs763266528 0.00002
NM_000414.4(HSD17B4):c.45C>T (p.Thr15=) rs751737033 0.00002
NM_000414.4(HSD17B4):c.585T>C (p.Asn195=) rs750582359 0.00002
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val) rs550705310 0.00002
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=) rs762731834 0.00002
NM_000414.4(HSD17B4):c.714+12T>G rs762828103 0.00002
NC_000005.9:g.118829592G>T rs368744809 0.00001
NM_000414.4(HSD17B4):c.1019C>T (p.Thr340Met) rs201568834 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=) rs778708979 0.00001
NM_000414.4(HSD17B4):c.1074A>G (p.Pro358=) rs777971427 0.00001
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=) rs1485011447 0.00001
NM_000414.4(HSD17B4):c.1128C>T (p.Thr376=) rs769074996 0.00001
NM_000414.4(HSD17B4):c.1149G>A (p.Gln383=) rs1258041380 0.00001
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235 0.00001
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491 0.00001
NM_000414.4(HSD17B4):c.1209+7C>G rs755414935 0.00001
NM_000414.4(HSD17B4):c.1230C>T (p.Tyr410=) rs763891697 0.00001
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) rs764406724 0.00001
NM_000414.4(HSD17B4):c.1305A>G (p.Lys435=) rs1751697427 0.00001
NM_000414.4(HSD17B4):c.1347T>C (p.Ser449=) rs1374866979 0.00001
NM_000414.4(HSD17B4):c.1371T>C (p.Asn457=) rs1381061831 0.00001
NM_000414.4(HSD17B4):c.1377C>T (p.Phe459=) rs758382416 0.00001
NM_000414.4(HSD17B4):c.1419G>T (p.Arg473=) rs774382073 0.00001
NM_000414.4(HSD17B4):c.1436A>G (p.Lys479Arg) rs1318841272 0.00001
NM_000414.4(HSD17B4):c.1491C>T (p.Thr497=) rs1403761935 0.00001
NM_000414.4(HSD17B4):c.1503+7T>C rs1412638588 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser) rs757297524 0.00001
NM_000414.4(HSD17B4):c.1554T>C (p.Pro518=) rs1263777745 0.00001
NM_000414.4(HSD17B4):c.1574-10C>T rs1270877545 0.00001
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.1599A>G (p.Gly533=) rs146514789 0.00001
NM_000414.4(HSD17B4):c.15G>A (p.Leu5=) rs969042234 0.00001
NM_000414.4(HSD17B4):c.160G>A (p.Ala54Thr) rs758207228 0.00001
NM_000414.4(HSD17B4):c.1623C>G (p.Ala541=) rs1753557404 0.00001
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967 0.00001
NM_000414.4(HSD17B4):c.1626G>A (p.Arg542=) rs374499018 0.00001
NM_000414.4(HSD17B4):c.163G>A (p.Ala55Thr) rs780149071 0.00001
NM_000414.4(HSD17B4):c.1657G>A (p.Val553Met) rs149141475 0.00001
NM_000414.4(HSD17B4):c.1681-5T>A rs1045926538 0.00001
NM_000414.4(HSD17B4):c.1699G>A (p.Val567Ile) rs775795599 0.00001
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_000414.4(HSD17B4):c.1710A>G (p.Gly570=) rs751248561 0.00001
NM_000414.4(HSD17B4):c.1716T>C (p.Thr572=) rs756875057 0.00001
NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile) rs375339818 0.00001
NM_000414.4(HSD17B4):c.1768-17T>A rs946545338 0.00001
NM_000414.4(HSD17B4):c.177T>G (p.Val59=) rs1460470115 0.00001
NM_000414.4(HSD17B4):c.1824A>T (p.Thr608=) rs1307922864 0.00001
NM_000414.4(HSD17B4):c.1855-9C>T rs755078463 0.00001
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996 0.00001
NM_000414.4(HSD17B4):c.1898G>A (p.Arg633His) rs754096002 0.00001
NM_000414.4(HSD17B4):c.1970G>A (p.Gly657Asp) rs141219265 0.00001
NM_000414.4(HSD17B4):c.1977T>C (p.Asn659=) rs146212267 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818 0.00001
NM_000414.4(HSD17B4):c.2121+9C>T rs1438030278 0.00001
NM_000414.4(HSD17B4):c.2122-4G>C rs745684382 0.00001
NM_000414.4(HSD17B4):c.2122-6T>G rs1370505129 0.00001
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys) rs149776885 0.00001
NM_000414.4(HSD17B4):c.2180A>G (p.Gln727Arg) rs766910805 0.00001
NM_000414.4(HSD17B4):c.220+16G>A rs1474872716 0.00001
NM_000414.4(HSD17B4):c.220+3A>G rs759069970 0.00001
NM_000414.4(HSD17B4):c.221-5C>T rs776341078 0.00001
NM_000414.4(HSD17B4):c.225A>C (p.Ser75=) rs1748368279 0.00001
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125 0.00001
NM_000414.4(HSD17B4):c.280+2T>C rs770772281 0.00001
NM_000414.4(HSD17B4):c.281-5T>C rs777931867 0.00001
NM_000414.4(HSD17B4):c.302+7A>G rs1027525354 0.00001
NM_000414.4(HSD17B4):c.375G>C (p.Arg125=) rs745646107 0.00001
NM_000414.4(HSD17B4):c.426G>A (p.Lys142=) rs758018890 0.00001
NM_000414.4(HSD17B4):c.429T>C (p.Tyr143=) rs751048975 0.00001
NM_000414.4(HSD17B4):c.498T>C (p.Ala166=) rs1748850526 0.00001
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000414.4(HSD17B4):c.58+1G>T rs1260517680 0.00001
NM_000414.4(HSD17B4):c.58+7A>G rs1231409834 0.00001
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=) rs770261826 0.00001
NM_000414.4(HSD17B4):c.622+14C>T rs765736425 0.00001
NM_000414.4(HSD17B4):c.636C>T (p.Ala212=) rs1409182370 0.00001
NM_000414.4(HSD17B4):c.699T>C (p.Asn233=) rs776251160 0.00001
NM_000414.4(HSD17B4):c.740-7T>C rs376669126 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp) rs771780974 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr) rs763121959 0.00001
NM_000414.4(HSD17B4):c.786C>T (p.His262=) rs1159372786 0.00001
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228 0.00001
NM_000414.4(HSD17B4):c.932A>G (p.Asn311Ser) rs200867795 0.00001
NM_000414.4(HSD17B4):c.972+10A>G rs1054681866 0.00001
NC_000005.10:g.(?_119514971)_(119542004_?)del
NC_000005.9:g.(?_118809583)_(118877689_?)dup
NC_000005.9:g.(?_118811381)_(118814736_?)del
NC_000005.9:g.(?_118827775)_(118837807_?)del
NC_000005.9:g.(?_118837726)_(118837797_?)del
NC_000005.9:g.(?_118865579)_(118867109_?)del
NC_000005.9:g.(?_118877580)_(118877689_?)del
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser) rs143750360
NM_000414.4(HSD17B4):c.1008T>A (p.Ser336=) rs1580623756
NM_000414.4(HSD17B4):c.1011T>C (p.Tyr337=) rs2126780725
NM_000414.4(HSD17B4):c.1017T>C (p.Tyr339=) rs1750942728
NM_000414.4(HSD17B4):c.1029A>G (p.Glu343=) rs1212644115
NM_000414.4(HSD17B4):c.1037T>C (p.Met346Thr)
NM_000414.4(HSD17B4):c.1042G>A (p.Ala348Thr)
NM_000414.4(HSD17B4):c.1059G>T (p.Ala353=)
NM_000414.4(HSD17B4):c.1065C>T (p.Ile355=) rs2126780991
NM_000414.4(HSD17B4):c.1067A>G (p.Lys356Arg)
NM_000414.4(HSD17B4):c.1070A>T (p.Asp357Val)
NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr) rs2126781071
NM_000414.4(HSD17B4):c.1095T>C (p.Tyr365=) rs1554065300
NM_000414.4(HSD17B4):c.1096G>A (p.Glu366Lys)
NM_000414.4(HSD17B4):c.1098A>G (p.Glu366=)
NM_000414.4(HSD17B4):c.1109A>T (p.Asp370Val)
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe) rs1198548214
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)
NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=)
NM_000414.4(HSD17B4):c.1125C>T (p.Pro375=) rs2126781246
NM_000414.4(HSD17B4):c.113-12T>G
NM_000414.4(HSD17B4):c.113-15G>C
NM_000414.4(HSD17B4):c.113-18C>T
NM_000414.4(HSD17B4):c.113-19G>A
NM_000414.4(HSD17B4):c.113-7A>G rs1306804490
NM_000414.4(HSD17B4):c.113-9G>A rs2126682408
NM_000414.4(HSD17B4):c.1134A>T (p.Gly378=) rs1561463588
NM_000414.4(HSD17B4):c.1136T>A (p.Val379Asp) rs1750957000
NM_000414.4(HSD17B4):c.1140C>T (p.Ile380=) rs2126781375
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter) rs1750958514
NM_000414.4(HSD17B4):c.1167A>T (p.Gly389=) rs1340926346
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
NM_000414.4(HSD17B4):c.1176A>G (p.Ala392=)
NM_000414.4(HSD17B4):c.1177G>A (p.Glu393Lys)
NM_000414.4(HSD17B4):c.117T>C (p.Asn39=) rs1748302967
NM_000414.4(HSD17B4):c.1180A>G (p.Ile394Val)
NM_000414.4(HSD17B4):c.1181T>C (p.Ile394Thr)
NM_000414.4(HSD17B4):c.1189C>A (p.Leu397Ile)
NM_000414.4(HSD17B4):c.118G>T (p.Asp40Tyr) rs34959311
NM_000414.4(HSD17B4):c.1191T>C (p.Leu397=)
NM_000414.4(HSD17B4):c.1195A>G (p.Ile399Val)
NM_000414.4(HSD17B4):c.1197C>T (p.Ile399=) rs1750965480
NM_000414.4(HSD17B4):c.1200C>T (p.Asn400=) rs1408334895
NM_000414.4(HSD17B4):c.1209+14A>G
NM_000414.4(HSD17B4):c.1209+17A>G
NM_000414.4(HSD17B4):c.1209+17A>T
NM_000414.4(HSD17B4):c.1209+17dup
NM_000414.4(HSD17B4):c.1209+18C>T
NM_000414.4(HSD17B4):c.1209+19C>G
NM_000414.4(HSD17B4):c.1209+19C>T
NM_000414.4(HSD17B4):c.1209+5G>A rs749753383
NM_000414.4(HSD17B4):c.1209+5G>T
NM_000414.4(HSD17B4):c.1210-10C>T rs529746859
NM_000414.4(HSD17B4):c.1210-17del rs781059702
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1210-7A>G rs1751214001
NM_000414.4(HSD17B4):c.1210-9C>G
NM_000414.4(HSD17B4):c.1210-9C>T rs748506604
NM_000414.4(HSD17B4):c.1221A>C (p.Gly407=) rs2126790105
NM_000414.4(HSD17B4):c.1230C>G (p.Tyr410Ter) rs763891697
NM_000414.4(HSD17B4):c.1231T>C (p.Leu411=) rs1047935593
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs) rs2126790164
NM_000414.4(HSD17B4):c.1235_1236del (p.Glu412fs) rs2126790168
NM_000414.4(HSD17B4):c.1236G>A (p.Glu412=) rs766602899
NM_000414.4(HSD17B4):c.1239A>G (p.Leu413=) rs2126790204
NM_000414.4(HSD17B4):c.1240T>C (p.Tyr414His)
NM_000414.4(HSD17B4):c.1248A>G (p.Pro416=) rs760174390
NM_000414.4(HSD17B4):c.1254C>T (p.Pro418=) rs2126790236
NM_000414.4(HSD17B4):c.1261+15T>C
NM_000414.4(HSD17B4):c.1261+16A>G
NM_000414.4(HSD17B4):c.1261+17C>G
NM_000414.4(HSD17B4):c.1261+17C>T
NM_000414.4(HSD17B4):c.1261+19A>T
NM_000414.4(HSD17B4):c.1261+1G>T
NM_000414.4(HSD17B4):c.1261+8A>G
NM_000414.4(HSD17B4):c.1261+9T>C rs753184910
NM_000414.4(HSD17B4):c.1262-15T>A
NM_000414.4(HSD17B4):c.1262-15T>G
NM_000414.4(HSD17B4):c.1262-18T>C
NM_000414.4(HSD17B4):c.1262-1G>A rs2126806430
NM_000414.4(HSD17B4):c.1262-1G>C
NM_000414.4(HSD17B4):c.1262-2A>G rs1751692890
NM_000414.4(HSD17B4):c.1262-4C>G rs2126806413
NM_000414.4(HSD17B4):c.1262-4C>T rs2126806413
NM_000414.4(HSD17B4):c.1262-5dup rs2126806405
NM_000414.4(HSD17B4):c.1262-6T>G
NM_000414.4(HSD17B4):c.1262-8C>A rs2126806391
NM_000414.4(HSD17B4):c.1262-8C>G
NM_000414.4(HSD17B4):c.1262-9T>C rs1000944832
NM_000414.4(HSD17B4):c.1267T>C (p.Leu423=)
NM_000414.4(HSD17B4):c.1269A>G (p.Leu423=) rs2126806465
NM_000414.4(HSD17B4):c.1271A>G (p.Lys424Arg) rs2126806471
NM_000414.4(HSD17B4):c.1281A>G (p.Ala427=)
NM_000414.4(HSD17B4):c.1289C>A (p.Ala430Asp) rs1282621174
NM_000414.4(HSD17B4):c.1293T>C (p.Asp431=)
NM_000414.4(HSD17B4):c.129G>A (p.Gly43=) rs2126682524
NM_000414.4(HSD17B4):c.12G>A (p.Pro4=) rs1754154891
NM_000414.4(HSD17B4):c.12G>T (p.Pro4=) rs1754154891
NM_000414.4(HSD17B4):c.1302T>C (p.Asp434=) rs2126806596
NM_000414.4(HSD17B4):c.131A>T (p.Asp44Val) rs200063597
NM_000414.4(HSD17B4):c.1320G>C (p.Val440=)
NM_000414.4(HSD17B4):c.132C>T (p.Asp44=)
NM_000414.4(HSD17B4):c.1333+13C>G
NM_000414.4(HSD17B4):c.1333+15A>G
NM_000414.4(HSD17B4):c.1333+1G>A
NM_000414.4(HSD17B4):c.1333+7T>G
NM_000414.4(HSD17B4):c.1333+8A>C rs1751701700
NM_000414.4(HSD17B4):c.1334-12_1334-9del
NM_000414.4(HSD17B4):c.1334-13A>G
NM_000414.4(HSD17B4):c.1334-19T>C
NM_000414.4(HSD17B4):c.1334-4T>A rs2126813983
NM_000414.4(HSD17B4):c.1334-4del rs2126813978
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe) rs768553274
NM_000414.4(HSD17B4):c.1338T>C (p.Tyr446=)
NM_000414.4(HSD17B4):c.1344T>C (p.Tyr448=)
NM_000414.4(HSD17B4):c.1350G>A (p.Glu450=) rs1308707943
NM_000414.4(HSD17B4):c.1352A>G (p.Lys451Arg)
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs) rs1751933402
NM_000414.4(HSD17B4):c.1354G>C (p.Glu452Gln)
NM_000414.4(HSD17B4):c.1361T>A (p.Ile454Lys)
NM_000414.4(HSD17B4):c.1366C>G (p.His456Asp)
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1370A>G (p.Asn457Ser)
NM_000414.4(HSD17B4):c.1374G>A (p.Gln458=)
NM_000414.4(HSD17B4):c.1380T>C (p.Ser460=)
NM_000414.4(HSD17B4):c.1383C>T (p.Leu461=) rs2126814315
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs) rs2126814260
NM_000414.4(HSD17B4):c.1388T>C (p.Leu463Pro) rs2126814342
NM_000414.4(HSD17B4):c.1398T>C (p.Ser466=)
NM_000414.4(HSD17B4):c.13C>T (p.Leu5=) rs2126590496
NM_000414.4(HSD17B4):c.1404C>T (p.Gly468=)
NM_000414.4(HSD17B4):c.1416A>G (p.Lys472=)
NM_000414.4(HSD17B4):c.1417C>A (p.Arg473=) rs201455193
NM_000414.4(HSD17B4):c.141A>C (p.Gly47=)
NM_000414.4(HSD17B4):c.1422A>G (p.Thr474=)
NM_000414.4(HSD17B4):c.1422A>T (p.Thr474=)
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter) rs1751944228
NM_000414.4(HSD17B4):c.1424C>T (p.Ser475Leu)
NM_000414.4(HSD17B4):c.1425A>G (p.Ser475=)
NM_000414.4(HSD17B4):c.1426_1429del (p.Asp476fs)
NM_000414.4(HSD17B4):c.1428C>T (p.Asp476=)
NM_000414.4(HSD17B4):c.1434C>T (p.Val478=) rs1239905170
NM_000414.4(HSD17B4):c.1437+18A>C
NM_000414.4(HSD17B4):c.1438-12T>C
NM_000414.4(HSD17B4):c.1438-13G>A
NM_000414.4(HSD17B4):c.1438-14T>C
NM_000414.4(HSD17B4):c.1438-18G>A
NM_000414.4(HSD17B4):c.1438-1G>A rs1554067009
NM_000414.4(HSD17B4):c.1438-1G>C
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1438-6T>C rs2126834578
NM_000414.4(HSD17B4):c.1438-9T>G rs2126834570
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val) rs775297352
NM_000414.4(HSD17B4):c.1470T>C (p.Asp490=)
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1476A>C (p.Val492=)
NM_000414.4(HSD17B4):c.147T>C (p.Gly49=)
NM_000414.4(HSD17B4):c.1480_1481insGA (p.Thr494fs) rs775060894
NM_000414.4(HSD17B4):c.1482A>G (p.Thr494=)
NM_000414.4(HSD17B4):c.1484A>T (p.Asp495Val) rs755720085
NM_000414.4(HSD17B4):c.1490C>A (p.Thr497Asn)
NM_000414.4(HSD17B4):c.1496T>G (p.Leu499Arg)
NM_000414.4(HSD17B4):c.1499_1502del (p.Asn500fs)
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs) rs2126834942
NM_000414.4(HSD17B4):c.1503+11del
NM_000414.4(HSD17B4):c.1503+16dup
NM_000414.4(HSD17B4):c.1503+17G>A
NM_000414.4(HSD17B4):c.1503+18A>C
NM_000414.4(HSD17B4):c.1503+1G>A
NM_000414.4(HSD17B4):c.1503+22del
NM_000414.4(HSD17B4):c.1503+8T>A
NM_000414.4(HSD17B4):c.1504-11T>C
NM_000414.4(HSD17B4):c.1504-12C>T
NM_000414.4(HSD17B4):c.1504-15A>G
NM_000414.4(HSD17B4):c.1504-17T>G
NM_000414.4(HSD17B4):c.1504-1G>A
NM_000414.4(HSD17B4):c.1504-20T>C
NM_000414.4(HSD17B4):c.1504-5C>G
NM_000414.4(HSD17B4):c.1504-6C>T
NM_000414.4(HSD17B4):c.1504-7T>G
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1521C>T (p.Leu507=) rs2126873440
NM_000414.4(HSD17B4):c.1527A>C (p.Gly509=) rs2126873458
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) rs764300456
NM_000414.4(HSD17B4):c.1539C>T (p.Pro513=)
NM_000414.4(HSD17B4):c.1542A>G (p.Leu514=) rs2126873548
NM_000414.4(HSD17B4):c.1545C>T (p.His515=) rs751742258
NM_000414.4(HSD17B4):c.1548T>A (p.Ile516=)
NM_000414.4(HSD17B4):c.1560T>C (p.Phe520=)
NM_000414.4(HSD17B4):c.1573+10C>G rs2126873736
NM_000414.4(HSD17B4):c.1573+15A>G
NM_000414.4(HSD17B4):c.1573+15A>T
NM_000414.4(HSD17B4):c.1573+17A>G
NM_000414.4(HSD17B4):c.1573+1G>T
NM_000414.4(HSD17B4):c.1573+8G>A
NM_000414.4(HSD17B4):c.1574-12C>T
NM_000414.4(HSD17B4):c.1574-15T>G
NM_000414.4(HSD17B4):c.1574-16T>G
NM_000414.4(HSD17B4):c.1574-17G>T
NM_000414.4(HSD17B4):c.1574-19G>C
NM_000414.4(HSD17B4):c.1574-4C>T rs2126876188
NM_000414.4(HSD17B4):c.1574-5C>T
NM_000414.4(HSD17B4):c.1574-9T>C
NM_000414.4(HSD17B4):c.1575T>C (p.Gly525=) rs2126876208
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
NM_000414.4(HSD17B4):c.1578dup (p.Asp527Ter)
NM_000414.4(HSD17B4):c.1587C>T (p.Pro529=)
NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)
NM_000414.4(HSD17B4):c.1599A>T (p.Gly533=)
NM_000414.4(HSD17B4):c.1608A>C (p.Thr536=)
NM_000414.4(HSD17B4):c.1614A>G (p.Gly538=)
NM_000414.4(HSD17B4):c.1617T>C (p.Phe539=)
NM_000414.4(HSD17B4):c.1619C>A (p.Ser540Tyr)
NM_000414.4(HSD17B4):c.161C>G (p.Ala54Gly) rs141517981
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1629T>C (p.Arg543=) rs2126876453
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1632G>A (p.Val544=)
NM_000414.4(HSD17B4):c.1647A>G (p.Ala549=) rs2126876484
NM_000414.4(HSD17B4):c.1655A>T (p.Asp552Val) rs1753560298
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs) rs1753560558
NM_000414.4(HSD17B4):c.165T>C (p.Ala55=) rs1748310768
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)
NM_000414.4(HSD17B4):c.1674A>T (p.Ala558=) rs1007425510
NM_000414.4(HSD17B4):c.1680+10T>C
NM_000414.4(HSD17B4):c.1680+15C>G
NM_000414.4(HSD17B4):c.1680+15C>T
NM_000414.4(HSD17B4):c.1680+19G>A
NM_000414.4(HSD17B4):c.1680+7G>A rs760053447
NM_000414.4(HSD17B4):c.1680+7G>C
NM_000414.4(HSD17B4):c.1680+9G>A
NM_000414.4(HSD17B4):c.1680+9G>C
NM_000414.4(HSD17B4):c.1680G>C (p.Lys560Asn)
NM_000414.4(HSD17B4):c.1681-10T>C rs2126880672
NM_000414.4(HSD17B4):c.1681-15A>C
NM_000414.4(HSD17B4):c.1681-15A>G rs375327755
NM_000414.4(HSD17B4):c.1681-17A>G
NM_000414.4(HSD17B4):c.1681-18C>G
NM_000414.4(HSD17B4):c.1681-9T>A
NM_000414.4(HSD17B4):c.1681G>T (p.Ala561Ser)
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) rs1239645507
NM_000414.4(HSD17B4):c.1690_1691delinsCT (p.Ala564Leu)
NM_000414.4(HSD17B4):c.1691C>T (p.Ala564Val)
NM_000414.4(HSD17B4):c.1692A>C (p.Ala564=)
NM_000414.4(HSD17B4):c.1695A>G (p.Lys565=)
NM_000414.4(HSD17B4):c.1698A>G (p.Pro566=) rs1380019592
NM_000414.4(HSD17B4):c.1708G>T (p.Gly570Ter) rs2126880873
NM_000414.4(HSD17B4):c.1713A>G (p.Gln571=) rs1580700697
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1719A>G (p.Leu573=)
NM_000414.4(HSD17B4):c.1724C>G (p.Thr575Ser)
NM_000414.4(HSD17B4):c.1725T>G (p.Thr575=)
NM_000414.4(HSD17B4):c.1743A>C (p.Gly581=)
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1767+12G>T
NM_000414.4(HSD17B4):c.1767+14T>G rs1233318059
NM_000414.4(HSD17B4):c.1767+18del
NM_000414.4(HSD17B4):c.1767+5G>A rs1753684353
NM_000414.4(HSD17B4):c.1767+7A>C
NM_000414.4(HSD17B4):c.1767+7A>G rs2126881188
NM_000414.4(HSD17B4):c.1768-10T>A
NM_000414.4(HSD17B4):c.1768-10_1768-9delinsCT rs2126889511
NM_000414.4(HSD17B4):c.1768-11C>T
NM_000414.4(HSD17B4):c.1768-14dup
NM_000414.4(HSD17B4):c.1768-15T>C
NM_000414.4(HSD17B4):c.1768-17T>C
NM_000414.4(HSD17B4):c.1768-5C>T rs2126889561
NM_000414.4(HSD17B4):c.1768-6C>G
NM_000414.4(HSD17B4):c.1768-6_1768-4del rs755128532
NM_000414.4(HSD17B4):c.1768-7T>A
NM_000414.4(HSD17B4):c.1768-9C>T rs1338480210
NM_000414.4(HSD17B4):c.1773A>G (p.Gln591=) rs752533944
NM_000414.4(HSD17B4):c.1785C>T (p.Asp595=) rs781491742
NM_000414.4(HSD17B4):c.1804T>C (p.Tyr602His)
NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys)
NM_000414.4(HSD17B4):c.1806T>C (p.Tyr602=) rs2126889740
NM_000414.4(HSD17B4):c.1809G>A (p.Val603=) rs1279792063
NM_000414.4(HSD17B4):c.1818A>G (p.Ala606=)
NM_000414.4(HSD17B4):c.1818A>T (p.Ala606=)
NM_000414.4(HSD17B4):c.1819C>T (p.Pro607Ser)
NM_000414.4(HSD17B4):c.1821A>C (p.Pro607=)
NM_000414.4(HSD17B4):c.1833T>C (p.Thr611=) rs765961638
NM_000414.4(HSD17B4):c.1836A>G (p.Ser612=) rs2126889891
NM_000414.4(HSD17B4):c.1848C>T (p.Pro616=)
NM_000414.4(HSD17B4):c.1854+12A>G rs1753922633
NM_000414.4(HSD17B4):c.1854+14A>C
NM_000414.4(HSD17B4):c.1854+15T>A
NM_000414.4(HSD17B4):c.1854+18G>A
NM_000414.4(HSD17B4):c.1854+18G>C
NM_000414.4(HSD17B4):c.1854+20A>G
NM_000414.4(HSD17B4):c.1854+8A>T
NM_000414.4(HSD17B4):c.1854+9T>G
NM_000414.4(HSD17B4):c.1855-13T>C
NM_000414.4(HSD17B4):c.1855-19_1855-16del
NM_000414.4(HSD17B4):c.1855-9_1855-7del rs1440146478
NM_000414.4(HSD17B4):c.1860G>A (p.Gly620=)
NM_000414.4(HSD17B4):c.1863G>A (p.Lys621=) rs1580711075
NM_000414.4(HSD17B4):c.1866T>G (p.Leu622=) rs2126896081
NM_000414.4(HSD17B4):c.186A>C (p.Ile62=) rs748540970
NM_000414.4(HSD17B4):c.1875C>T (p.Thr625=) rs745478996
NM_000414.4(HSD17B4):c.1878T>C (p.Phe626=) rs2126896176
NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)
NM_000414.4(HSD17B4):c.1885G>C (p.Glu629Gln)
NM_000414.4(HSD17B4):c.1898_1902del (p.Arg633fs)
NM_000414.4(HSD17B4):c.1899C>A (p.Arg633=)
NM_000414.4(HSD17B4):c.1899C>T (p.Arg633=)
NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)
NM_000414.4(HSD17B4):c.1902C>A (p.Arg634=)
NM_000414.4(HSD17B4):c.1902C>T (p.Arg634=) rs1017592892
NM_000414.4(HSD17B4):c.1905A>G (p.Leu635=)
NM_000414.4(HSD17B4):c.1905A>T (p.Leu635=) rs758434548
NM_000414.4(HSD17B4):c.1908G>A (p.Lys636=) rs1430676057
NM_000414.4(HSD17B4):c.1914T>A (p.Ile638=) rs1580711431
NM_000414.4(HSD17B4):c.1917G>A (p.Gly639=) rs2126896399
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter) rs1754083341
NM_000414.4(HSD17B4):c.1926G>T (p.Val642=) rs1182381795
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser) rs1294462098
NM_000414.4(HSD17B4):c.1932G>A (p.Lys644=)
NM_000414.4(HSD17B4):c.1935A>G (p.Lys645=)
NM_000414.4(HSD17B4):c.1938A>G (p.Val646=)
NM_000414.4(HSD17B4):c.193A>C (p.Arg65=)
NM_000414.4(HSD17B4):c.1944T>G (p.Ala648=)
NM_000414.4(HSD17B4):c.1945G>A (p.Val649Ile)
NM_000414.4(HSD17B4):c.1947A>G (p.Val649=) rs769560045
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter) rs1754087713
NM_000414.4(HSD17B4):c.1954_1970del (p.Trp652fs) rs2126896587
NM_000414.4(HSD17B4):c.1956G>A (p.Trp652Ter)
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)
NM_000414.4(HSD17B4):c.1965C>G (p.Thr655=) rs546307544
NM_000414.4(HSD17B4):c.1965C>T (p.Thr655=) rs546307544
NM_000414.4(HSD17B4):c.1971C>A (p.Gly657=) rs776519991
NM_000414.4(HSD17B4):c.1971C>T (p.Gly657=) rs776519991
NM_000414.4(HSD17B4):c.1974A>C (p.Gly658=)
NM_000414.4(HSD17B4):c.1983G>A (p.Gly661=) rs2126896730
NM_000414.4(HSD17B4):c.1986del (p.Lys663fs)
NM_000414.4(HSD17B4):c.198T>C (p.Gly66=) rs1748314832
NM_000414.4(HSD17B4):c.198T>G (p.Gly66=)
NM_000414.4(HSD17B4):c.1993+12C>A
NM_000414.4(HSD17B4):c.1993+12C>T
NM_000414.4(HSD17B4):c.1993+13C>G
NM_000414.4(HSD17B4):c.1993+16G>T
NM_000414.4(HSD17B4):c.1993+7T>C
NM_000414.4(HSD17B4):c.1993+7T>G
NM_000414.4(HSD17B4):c.1994-11A>G
NM_000414.4(HSD17B4):c.1994-13C>T
NM_000414.4(HSD17B4):c.1994-17C>G
NM_000414.4(HSD17B4):c.1994-4C>G
NM_000414.4(HSD17B4):c.1994-4C>T rs1331852613
NM_000414.4(HSD17B4):c.1994-5C>G
NM_000414.4(HSD17B4):c.1994-9T>G
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu) rs1488399880
NM_000414.4(HSD17B4):c.2001C>T (p.Asp667=)
NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu)
NM_000414.4(HSD17B4):c.2011G>C (p.Gly671Arg)
NM_000414.4(HSD17B4):c.2019A>C (p.Gly673=) rs2126915535
NM_000414.4(HSD17B4):c.2028C>T (p.Tyr676=)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.2032G>A (p.Gly678Ser)
NM_000414.4(HSD17B4):c.2040A>G (p.Ala680=) rs2126915676
NM_000414.4(HSD17B4):c.2045G>A (p.Gly682Asp)
NM_000414.4(HSD17B4):c.2061A>G (p.Thr687=) rs1754550519
NM_000414.4(HSD17B4):c.2064C>A (p.Ile688=)
NM_000414.4(HSD17B4):c.2065A>G (p.Ile689Val)
NM_000414.4(HSD17B4):c.2075A>G (p.Asp692Gly) rs2126915869
NM_000414.4(HSD17B4):c.207A>G (p.Ala69=) rs1748315534
NM_000414.4(HSD17B4):c.2097C>T (p.Val699=) rs202134940
NM_000414.4(HSD17B4):c.2106G>T (p.Lys702Asn)
NM_000414.4(HSD17B4):c.2109T>A (p.Leu703=) rs2126916051
NM_000414.4(HSD17B4):c.2112C>A (p.Asp704Glu)
NM_000414.4(HSD17B4):c.2115T>C (p.Pro705=) rs2126916088
NM_000414.4(HSD17B4):c.2121+12A>G
NM_000414.4(HSD17B4):c.2121+14A>T
NM_000414.4(HSD17B4):c.2121+16G>A
NM_000414.4(HSD17B4):c.2121+19C>A
NM_000414.4(HSD17B4):c.2121+20A>G
NM_000414.4(HSD17B4):c.2121+20A>T
NM_000414.4(HSD17B4):c.2121+7T>C rs876657477
NM_000414.4(HSD17B4):c.2121+9C>G
NM_000414.4(HSD17B4):c.2122-10C>T
NM_000414.4(HSD17B4):c.2122-12C>A
NM_000414.4(HSD17B4):c.2122-12C>G
NM_000414.4(HSD17B4):c.2122-13C>G
NM_000414.4(HSD17B4):c.2122-13C>T
NM_000414.4(HSD17B4):c.2122-14T>G
NM_000414.4(HSD17B4):c.2122-17C>T
NM_000414.4(HSD17B4):c.2122-18T>C
NM_000414.4(HSD17B4):c.2122-9T>C rs573283226
NM_000414.4(HSD17B4):c.2127C>G (p.Phe709Leu) rs541911825
NM_000414.4(HSD17B4):c.2135G>A (p.Gly712Asp)
NM_000414.4(HSD17B4):c.213C>T (p.Ala71=)
NM_000414.4(HSD17B4):c.2151A>G (p.Arg717=) rs2126934635
NM_000414.4(HSD17B4):c.2163G>A (p.Met721Ile) rs2126934715
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys) rs1554062124
NM_000414.4(HSD17B4):c.216C>T (p.Asn72=)
NM_000414.4(HSD17B4):c.2172G>A (p.Gln724=) rs2126934732
NM_000414.4(HSD17B4):c.2175A>G (p.Lys725=)
NM_000414.4(HSD17B4):c.2190T>C (p.Leu730=) rs1580736426
NM_000414.4(HSD17B4):c.2196C>T (p.Asp732=)
NM_000414.4(HSD17B4):c.21C>T (p.Phe7=) rs143278360
NM_000414.4(HSD17B4):c.220+10T>C
NM_000414.4(HSD17B4):c.220+14G>A
NM_000414.4(HSD17B4):c.2208C>G (p.Leu736=) rs1755036599
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.221-10T>C rs561984163
NM_000414.4(HSD17B4):c.221-12C>T
NM_000414.4(HSD17B4):c.221-17A>G
NM_000414.4(HSD17B4):c.221-18A>C
NM_000414.4(HSD17B4):c.221-5del rs2126684201
NM_000414.4(HSD17B4):c.221-6C>T
NM_000414.4(HSD17B4):c.221-9T>A
NM_000414.4(HSD17B4):c.231A>G (p.Glu77=) rs1580547484
NM_000414.4(HSD17B4):c.243G>A (p.Lys81=) rs2126684335
NM_000414.4(HSD17B4):c.245T>C (p.Val82Ala)
NM_000414.4(HSD17B4):c.249G>A (p.Val83=) rs368850124
NM_000414.4(HSD17B4):c.251A>G (p.Lys84Arg)
NM_000414.4(HSD17B4):c.258C>T (p.Ala86=)
NM_000414.4(HSD17B4):c.259C>T (p.Leu87=)
NM_000414.4(HSD17B4):c.261G>A (p.Leu87=)
NM_000414.4(HSD17B4):c.261G>C (p.Leu87=)
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.272G>A (p.Gly91Glu)
NM_000414.4(HSD17B4):c.275G>T (p.Arg92Ile) rs754108630
NM_000414.4(HSD17B4):c.280+20T>A
NM_000414.4(HSD17B4):c.280+20T>C
NM_000414.4(HSD17B4):c.280+4A>G rs759020197
NM_000414.4(HSD17B4):c.280+4A>T
NM_000414.4(HSD17B4):c.280+5T>C rs2126684592
NM_000414.4(HSD17B4):c.280+7T>C
NM_000414.4(HSD17B4):c.280+9T>C rs1288645410
NM_000414.4(HSD17B4):c.281-11_281-10del
NM_000414.4(HSD17B4):c.281-15del
NM_000414.4(HSD17B4):c.281-19G>A
NM_000414.4(HSD17B4):c.281-19G>T
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.281-9A>G rs894789339
NM_000414.4(HSD17B4):c.283_302+2delinsATATAAAAAAAGAAAA
NM_000414.4(HSD17B4):c.291C>A (p.Val97=)
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp) rs1561442127
NM_000414.4(HSD17B4):c.293A>G (p.Asn98Ser) rs1392361503
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.302+11_302+14del
NM_000414.4(HSD17B4):c.302+19T>A
NM_000414.4(HSD17B4):c.302+1G>A rs2126689875
NM_000414.4(HSD17B4):c.302+23del
NM_000414.4(HSD17B4):c.303-12T>C
NM_000414.4(HSD17B4):c.303-14del
NM_000414.4(HSD17B4):c.303-17C>T rs764289044
NM_000414.4(HSD17B4):c.303-19T>A
NM_000414.4(HSD17B4):c.303-20A>G
NM_000414.4(HSD17B4):c.303-3dup rs1292554547
NM_000414.4(HSD17B4):c.303-7T>G
NM_000414.4(HSD17B4):c.30G>A (p.Arg10=)
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)
NM_000414.4(HSD17B4):c.338A>C (p.Asp113Ala)
NM_000414.4(HSD17B4):c.33G>T (p.Val11=)
NM_000414.4(HSD17B4):c.343del (p.Asp115fs)
NM_000414.4(HSD17B4):c.349+13del rs1187910536
NM_000414.4(HSD17B4):c.349+15G>T
NM_000414.4(HSD17B4):c.349+16dup
NM_000414.4(HSD17B4):c.349+17A>G
NM_000414.4(HSD17B4):c.350-10A>G
NM_000414.4(HSD17B4):c.350-13T>A
NM_000414.4(HSD17B4):c.350-14A>C
NM_000414.4(HSD17B4):c.350-16del
NM_000414.4(HSD17B4):c.350-17A>C
NM_000414.4(HSD17B4):c.350-17A>G
NM_000414.4(HSD17B4):c.350-1G>T
NM_000414.4(HSD17B4):c.350-7G>A
NM_000414.4(HSD17B4):c.351T>C (p.Asp117=) rs200667890
NM_000414.4(HSD17B4):c.361A>G (p.Arg121Gly) rs1455328824
NM_000414.4(HSD17B4):c.363_364del (p.Arg121fs)
NM_000414.4(HSD17B4):c.373C>A (p.Arg125=)
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)
NM_000414.4(HSD17B4):c.381A>G (p.Ser127=)
NM_000414.4(HSD17B4):c.396G>C (p.Arg132=)
NM_000414.4(HSD17B4):c.399A>G (p.Ala133=)
NM_000414.4(HSD17B4):c.402A>C (p.Ala134=)
NM_000414.4(HSD17B4):c.402A>T (p.Ala134=) rs754255447
NM_000414.4(HSD17B4):c.417G>A (p.Lys139=)
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.432A>G (p.Gly144=) rs2126696973
NM_000414.4(HSD17B4):c.434+15G>C
NM_000414.4(HSD17B4):c.434+5A>G
NM_000414.4(HSD17B4):c.434+9G>T rs2126697024
NM_000414.4(HSD17B4):c.435-13A>G
NM_000414.4(HSD17B4):c.435-14G>T
NM_000414.4(HSD17B4):c.435-16T>C
NM_000414.4(HSD17B4):c.435-20G>A
NM_000414.4(HSD17B4):c.435-4T>A rs2126702366
NM_000414.4(HSD17B4):c.435-8C>G
NM_000414.4(HSD17B4):c.439del (p.Ile147fs) rs2126702418
NM_000414.4(HSD17B4):c.442A>G (p.Met148Val) rs765174171
NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)
NM_000414.4(HSD17B4):c.456T>C (p.Ala152=) rs779756356
NM_000414.4(HSD17B4):c.459A>C (p.Ser153=) rs749090911
NM_000414.4(HSD17B4):c.459A>G (p.Ser153=)
NM_000414.4(HSD17B4):c.48C>A (p.Gly16=)
NM_000414.4(HSD17B4):c.491A>G (p.Tyr164Cys)
NM_000414.4(HSD17B4):c.498T>G (p.Ala166=) rs1748850526
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)
NM_000414.4(HSD17B4):c.519C>T (p.Gly173=) rs770301555
NM_000414.4(HSD17B4):c.51G>A (p.Ala17=)
NM_000414.4(HSD17B4):c.51G>T (p.Ala17=) rs756529538
NM_000414.4(HSD17B4):c.529T>C (p.Ser177Pro)
NM_000414.4(HSD17B4):c.537A>G (p.Ala179=) rs2126702878
NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu)
NM_000414.4(HSD17B4):c.558C>T (p.Asn186=)
NM_000414.4(HSD17B4):c.561dup (p.His188fs)
NM_000414.4(HSD17B4):c.564T>C (p.His188=)
NM_000414.4(HSD17B4):c.579T>C (p.Ala193=)
NM_000414.4(HSD17B4):c.58+10C>T rs1460258638
NM_000414.4(HSD17B4):c.58+11_58+35del
NM_000414.4(HSD17B4):c.58+14G>A
NM_000414.4(HSD17B4):c.58+15G>T
NM_000414.4(HSD17B4):c.58+16T>A
NM_000414.4(HSD17B4):c.58+1G>C rs1260517680
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
NM_000414.4(HSD17B4):c.59-1G>A
NM_000414.4(HSD17B4):c.59-3T>G
NM_000414.4(HSD17B4):c.59-4T>C
NM_000414.4(HSD17B4):c.59-5A>T
NM_000414.4(HSD17B4):c.59-8T>A rs2126610283
NM_000414.4(HSD17B4):c.590_597dup (p.Met200fs) rs2126703106
NM_000414.4(HSD17B4):c.591A>G (p.Gly197=) rs2126703123
NM_000414.4(HSD17B4):c.594A>T (p.Ser198=) rs2126703127
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000414.4(HSD17B4):c.596G>A (p.Arg199Gln)
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs) rs2126703227
NM_000414.4(HSD17B4):c.609A>G (p.Thr203=)
NM_000414.4(HSD17B4):c.618T>A (p.Pro206=)
NM_000414.4(HSD17B4):c.61T>C (p.Leu21=)
NM_000414.4(HSD17B4):c.622+16T>G
NM_000414.4(HSD17B4):c.622+17A>G
NM_000414.4(HSD17B4):c.622+19A>T
NM_000414.4(HSD17B4):c.622+20T>G
NM_000414.4(HSD17B4):c.622+7A>C
NM_000414.4(HSD17B4):c.622+8A>G
NM_000414.4(HSD17B4):c.622+9G>A rs2126703352
NM_000414.4(HSD17B4):c.623-12T>G
NM_000414.4(HSD17B4):c.623-18G>A
NM_000414.4(HSD17B4):c.623-20G>A
NM_000414.4(HSD17B4):c.623-8T>C rs1393357671
NM_000414.4(HSD17B4):c.623-8dup
NM_000414.4(HSD17B4):c.627T>C (p.Leu209=) rs2126739965
NM_000414.4(HSD17B4):c.637C>T (p.Leu213=)
NM_000414.4(HSD17B4):c.639G>A (p.Leu213=)
NM_000414.4(HSD17B4):c.642G>A (p.Lys214=) rs968788089
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.645A>G (p.Pro215=) rs1749876910
NM_000414.4(HSD17B4):c.651T>C (p.Tyr217=) rs2126740088
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.654G>C (p.Val218=) rs2126740113
NM_000414.4(HSD17B4):c.657A>G (p.Ala219=)
NM_000414.4(HSD17B4):c.657del (p.Pro220fs) rs2126740125
NM_000414.4(HSD17B4):c.657dup (p.Pro220fs)
NM_000414.4(HSD17B4):c.658C>T (p.Pro220Ser)
NM_000414.4(HSD17B4):c.660T>C (p.Pro220=)
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.669T>C (p.Leu223=) rs2126740206
NM_000414.4(HSD17B4):c.678T>C (p.Cys226=) rs1242643593
NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.682G>T (p.Glu228Ter) rs746702458
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) rs762613990
NM_000414.4(HSD17B4):c.693G>A (p.Glu231=)
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.6C>G (p.Gly2=)
NM_000414.4(HSD17B4):c.6C>T (p.Gly2=) rs1417491819
NM_000414.4(HSD17B4):c.705C>T (p.Gly235=)
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
NM_000414.4(HSD17B4):c.714+10C>G
NM_000414.4(HSD17B4):c.714+14C>T
NM_000414.4(HSD17B4):c.714+15C>T
NM_000414.4(HSD17B4):c.714+1G>C
NM_000414.4(HSD17B4):c.715-10T>C
NM_000414.4(HSD17B4):c.715-13del
NM_000414.4(HSD17B4):c.715-16C>G
NM_000414.4(HSD17B4):c.715-17C>A
NM_000414.4(HSD17B4):c.715-1G>A
NM_000414.4(HSD17B4):c.715-6T>C rs2126751672
NM_000414.4(HSD17B4):c.715-7T>C rs1750161516
NM_000414.4(HSD17B4):c.718G>T (p.Gly240Ter)
NM_000414.4(HSD17B4):c.726A>G (p.Gly242=) rs140376279
NM_000414.4(HSD17B4):c.728G>A (p.Trp243Ter) rs2126751711
NM_000414.4(HSD17B4):c.72C>T (p.Ala24=) rs2126610379
NM_000414.4(HSD17B4):c.739+13C>T
NM_000414.4(HSD17B4):c.739+17T>G
NM_000414.4(HSD17B4):c.739+1G>A rs1561456373
NM_000414.4(HSD17B4):c.739+1G>T
NM_000414.4(HSD17B4):c.739+20dup
NM_000414.4(HSD17B4):c.739+6TC[2] rs1208834876
NM_000414.4(HSD17B4):c.739+6TC[3]
NM_000414.4(HSD17B4):c.739+7C>A
NM_000414.4(HSD17B4):c.739+8T>C rs2126751803
NM_000414.4(HSD17B4):c.739+9C>T
NM_000414.4(HSD17B4):c.740-4C>T
NM_000414.4(HSD17B4):c.740-6A>G
NM_000414.4(HSD17B4):c.740-8A>G rs1580606498
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
NM_000414.4(HSD17B4):c.740T>G (p.Leu247Ter) rs144141837
NM_000414.4(HSD17B4):c.742C>G (p.Arg248Gly) rs969485098
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
NM_000414.4(HSD17B4):c.753G>A (p.Arg251=)
NM_000414.4(HSD17B4):c.755C>T (p.Thr252Ile)
NM_000414.4(HSD17B4):c.75T>C (p.Tyr25=)
NM_000414.4(HSD17B4):c.761G>A (p.Gly254Glu)
NM_000414.4(HSD17B4):c.774A>G (p.Arg258=)
NM_000414.4(HSD17B4):c.784C>G (p.His262Asp)
NM_000414.4(HSD17B4):c.789A>G (p.Pro263=) rs2126758749
NM_000414.4(HSD17B4):c.78C>T (p.Ala26=) rs2126610419
NM_000414.4(HSD17B4):c.793A>G (p.Thr265Ala)
NM_000414.4(HSD17B4):c.795T>C (p.Thr265=)
NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser) rs146555135
NM_000414.4(HSD17B4):c.801G>A (p.Glu267=)
NM_000414.4(HSD17B4):c.807C>G (p.Val269=) rs1750349863
NM_000414.4(HSD17B4):c.807C>T (p.Val269=) rs1750349863
NM_000414.4(HSD17B4):c.810G>A (p.Lys270=) rs2126758874
NM_000414.4(HSD17B4):c.813T>C (p.Ala271=)
NM_000414.4(HSD17B4):c.814A>G (p.Asn272Asp) rs2126758919
NM_000414.4(HSD17B4):c.816C>T (p.Asn272=) rs2126758935
NM_000414.4(HSD17B4):c.818G>A (p.Trp273Ter)
NM_000414.4(HSD17B4):c.81G>A (p.Leu27=) rs1754652365
NM_000414.4(HSD17B4):c.81G>T (p.Leu27=) rs1754652365
NM_000414.4(HSD17B4):c.828C>T (p.Ile276=)
NM_000414.4(HSD17B4):c.842A>G (p.Asn281Ser) rs1750354718
NM_000414.4(HSD17B4):c.846C>T (p.Ala282=) rs2126759083
NM_000414.4(HSD17B4):c.847A>T (p.Ser283Cys)
NM_000414.4(HSD17B4):c.84T>G (p.Ala28=) rs2126610452
NM_000414.4(HSD17B4):c.854C>T (p.Pro285Leu)
NM_000414.4(HSD17B4):c.857del (p.Gln286fs)
NM_000414.4(HSD17B4):c.860G>A (p.Ser287Asn)
NM_000414.4(HSD17B4):c.861T>C (p.Ser287=) rs2126759154
NM_000414.4(HSD17B4):c.864C>A (p.Ile288=)
NM_000414.4(HSD17B4):c.868+11T>G
NM_000414.4(HSD17B4):c.868+15C>T
NM_000414.4(HSD17B4):c.868+16G>A
NM_000414.4(HSD17B4):c.868+18C>G
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.868+7A>G
NM_000414.4(HSD17B4):c.868+8G>A rs2126759227
NM_000414.4(HSD17B4):c.868+9A>G
NM_000414.4(HSD17B4):c.869-12T>G
NM_000414.4(HSD17B4):c.869-14A>G
NM_000414.4(HSD17B4):c.869-15C>T
NM_000414.4(HSD17B4):c.869-18T>C
NM_000414.4(HSD17B4):c.869-4T>G
NM_000414.4(HSD17B4):c.869-7A>G
NM_000414.4(HSD17B4):c.869-8C>T rs1184914279
NM_000414.4(HSD17B4):c.869-9_869-3del
NM_000414.4(HSD17B4):c.879C>G (p.Gly293=) rs759164470
NM_000414.4(HSD17B4):c.882T>C (p.Ser294=)
NM_000414.4(HSD17B4):c.885A>C (p.Ile295=)
NM_000414.4(HSD17B4):c.889G>T (p.Glu297Ter)
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter) rs958986994
NM_000414.4(HSD17B4):c.915A>G (p.Glu305=)
NM_000414.4(HSD17B4):c.922G>A (p.Val308Ile)
NM_000414.4(HSD17B4):c.925T>C (p.Ser309Pro)
NM_000414.4(HSD17B4):c.930A>C (p.Ala310=)
NM_000414.4(HSD17B4):c.930A>G (p.Ala310=)
NM_000414.4(HSD17B4):c.934C>T (p.His312Tyr)
NM_000414.4(HSD17B4):c.936T>C (p.His312=)
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.939T>C (p.Thr313=) rs2126770222
NM_000414.4(HSD17B4):c.948A>C (p.Ala316=) rs192301957
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.951G>T (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.954T>C (p.Ser318=) rs1561461048
NM_000414.4(HSD17B4):c.960A>G (p.Ala320=) rs2126770390
NM_000414.4(HSD17B4):c.963A>C (p.Thr321=) rs1750675419
NM_000414.4(HSD17B4):c.966A>G (p.Ser322=) rs2126770408
NM_000414.4(HSD17B4):c.972+14A>G
NM_000414.4(HSD17B4):c.972+14A>T
NM_000414.4(HSD17B4):c.972+15A>G
NM_000414.4(HSD17B4):c.972+15del rs763801604
NM_000414.4(HSD17B4):c.972+16G>A
NM_000414.4(HSD17B4):c.972+16G>C
NM_000414.4(HSD17B4):c.972+18C>G
NM_000414.4(HSD17B4):c.972+9dup
NM_000414.4(HSD17B4):c.973-15T>A
NM_000414.4(HSD17B4):c.978A>G (p.Gly326=)
NM_000414.4(HSD17B4):c.981T>C (p.Ala327=) rs2126780594
NM_000414.4(HSD17B4):c.981T>G (p.Ala327=)

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