ClinVar Miner

List of variants in gene ELAC2 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 850
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_018127.7(ELAC2):c.297-11T>C rs58809197 0.27292
NM_018127.7(ELAC2):c.1218+15C>T rs55825263 0.26965
NM_018127.7(ELAC2):c.1304+17A>T rs55674356 0.26960
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_018127.7(ELAC2):c.491-14T>C rs74556312 0.08556
NM_018127.7(ELAC2):c.798-20G>T rs77528900 0.03735
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=) rs7217826 0.02093
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=) rs140335642 0.00771
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_018127.7(ELAC2):c.1305-9_1305-8insCTC rs370493014 0.00515
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) rs119484087 0.00156
NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup) rs1555571246 0.00144
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_018127.7(ELAC2):c.159C>T (p.Gly53=) rs200251607 0.00045
NM_018127.7(ELAC2):c.1218+16G>A rs201351764 0.00044
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_018127.7(ELAC2):c.9G>C (p.Ala3=) rs764509473 0.00036
NM_018127.7(ELAC2):c.2376G>A (p.Ala792=) rs180717697 0.00034
NM_018127.7(ELAC2):c.1659G>A (p.Thr553=) rs200420215 0.00032
NM_018127.7(ELAC2):c.1575C>T (p.Cys525=) rs140487151 0.00028
NM_018127.7(ELAC2):c.1740C>T (p.Ala580=) rs148050183 0.00027
NM_018127.7(ELAC2):c.1390A>T (p.Arg464Trp) rs200149324 0.00026
NM_018127.7(ELAC2):c.367+7A>G rs113628680 0.00025
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=) rs201700166 0.00022
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_018127.7(ELAC2):c.195G>A (p.Ala65=) rs377291764 0.00019
NM_018127.7(ELAC2):c.739-18A>G rs376224310 0.00019
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys) rs374954001 0.00017
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val) rs767378629 0.00016
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00016
NM_018127.7(ELAC2):c.632G>A (p.Arg211Gln) rs148419785 0.00016
NM_018127.7(ELAC2):c.1304+13T>C rs777881145 0.00015
NM_018127.7(ELAC2):c.1080-8C>A rs201721293 0.00014
NM_018127.7(ELAC2):c.1283G>A (p.Arg428His) rs376713626 0.00014
NM_018127.7(ELAC2):c.1458T>C (p.Leu486=) rs150347734 0.00014
NM_018127.7(ELAC2):c.291G>A (p.Glu97=) rs748123262 0.00014
NM_018127.7(ELAC2):c.600A>G (p.Pro200=) rs142521572 0.00014
NM_018127.7(ELAC2):c.1319C>T (p.Thr440Ile) rs373125478 0.00013
NM_018127.7(ELAC2):c.351T>C (p.Asn117=) rs146877290 0.00011
NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala) rs377463613 0.00011
NM_018127.7(ELAC2):c.1423+13C>T rs552514338 0.00010
NM_018127.7(ELAC2):c.1955C>T (p.Ala652Val) rs761881914 0.00010
NM_018127.7(ELAC2):c.156C>T (p.Ser52=) rs375941310 0.00009
NM_018127.7(ELAC2):c.1705T>G (p.Leu569Val) rs375606970 0.00009
NM_018127.7(ELAC2):c.1304+15G>C rs373732738 0.00008
NM_018127.7(ELAC2):c.489G>A (p.Leu163=) rs767752385 0.00008
NM_018127.7(ELAC2):c.834C>T (p.Val278=) rs138869157 0.00008
NM_018127.7(ELAC2):c.1799A>G (p.His600Arg) rs764718787 0.00007
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr) rs762471494 0.00007
NM_018127.7(ELAC2):c.2404G>A (p.Gly802Ser) rs147779718 0.00007
NM_018127.7(ELAC2):c.666A>G (p.Pro222=) rs772199691 0.00007
NM_018127.7(ELAC2):c.1350G>A (p.Ala450=) rs375565327 0.00006
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser) rs1217149676 0.00006
NM_018127.7(ELAC2):c.1880C>T (p.Ser627Leu) rs78105154 0.00006
NM_018127.7(ELAC2):c.1908+5G>A rs753540327 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_018127.7(ELAC2):c.2151G>A (p.Ala717=) rs747104908 0.00006
NM_018127.7(ELAC2):c.700G>A (p.Val234Ile) rs142803912 0.00006
NM_018127.7(ELAC2):c.840C>T (p.Asp280=) rs369092504 0.00006
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu) rs771550822 0.00006
NM_018127.7(ELAC2):c.1210C>T (p.Arg404Cys) rs543132773 0.00005
NM_018127.7(ELAC2):c.2221G>A (p.Glu741Lys) rs376277988 0.00005
NM_018127.7(ELAC2):c.2319C>T (p.Gly773=) rs550032568 0.00005
NM_018127.7(ELAC2):c.2403C>T (p.Gly801=) rs777147755 0.00005
NM_018127.7(ELAC2):c.560G>C (p.Ser187Thr) rs750475807 0.00005
NM_018127.7(ELAC2):c.715C>T (p.Leu239=) rs377338076 0.00005
NM_018127.7(ELAC2):c.738+17G>A rs761089421 0.00005
NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr) rs765353090 0.00005
NM_018127.7(ELAC2):c.983+9G>A rs760385942 0.00005
NM_018127.7(ELAC2):c.1098G>C (p.Gln366His) rs373534638 0.00004
NM_018127.7(ELAC2):c.1142G>A (p.Arg381His) rs756803645 0.00004
NM_018127.7(ELAC2):c.1378G>A (p.Val460Met) rs775449483 0.00004
NM_018127.7(ELAC2):c.1424-16A>G rs149112672 0.00004
NM_018127.7(ELAC2):c.1424-17C>T rs755064409 0.00004
NM_018127.7(ELAC2):c.152G>T (p.Cys51Phe) rs777786097 0.00004
NM_018127.7(ELAC2):c.1554G>A (p.Glu518=) rs377407616 0.00004
NM_018127.7(ELAC2):c.1992C>T (p.Ser664=) rs746289536 0.00004
NM_018127.7(ELAC2):c.2108+14G>A rs199942266 0.00004
NM_018127.7(ELAC2):c.2109-9C>T rs770917844 0.00004
NM_018127.7(ELAC2):c.2275A>G (p.Thr759Ala) rs199998904 0.00004
NM_018127.7(ELAC2):c.240C>T (p.Phe80=) rs764484752 0.00004
NM_018127.7(ELAC2):c.2457G>A (p.Gln819=) rs773456696 0.00004
NM_018127.7(ELAC2):c.296+9G>A rs1472556568 0.00004
NM_018127.7(ELAC2):c.311G>A (p.Arg104His) rs201871417 0.00004
NM_018127.7(ELAC2):c.319A>G (p.Asn107Asp) rs781676615 0.00004
NM_018127.7(ELAC2):c.369A>G (p.Gly123=) rs143942145 0.00004
NM_018127.7(ELAC2):c.387G>A (p.Lys129=) rs367828554 0.00004
NM_018127.7(ELAC2):c.871-20G>A rs766710377 0.00004
NM_018127.7(ELAC2):c.1042G>A (p.Val348Met) rs370476174 0.00003
NM_018127.7(ELAC2):c.1079+13G>C rs200797227 0.00003
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr) rs1404085657 0.00003
NM_018127.7(ELAC2):c.1181C>T (p.Pro394Leu) rs1347935204 0.00003
NM_018127.7(ELAC2):c.1423+8G>A rs763673924 0.00003
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala) rs149210630 0.00003
NM_018127.7(ELAC2):c.1521C>T (p.Ser507=) rs772549996 0.00003
NM_018127.7(ELAC2):c.1525G>A (p.Asp509Asn) rs149866327 0.00003
NM_018127.7(ELAC2):c.1576C>T (p.Arg526Cys) rs760945874 0.00003
NM_018127.7(ELAC2):c.1584C>T (p.Tyr528=) rs772070282 0.00003
NM_018127.7(ELAC2):c.1659+13del rs753964584 0.00003
NM_018127.7(ELAC2):c.1660-5G>A rs931276557 0.00003
NM_018127.7(ELAC2):c.1701A>G (p.Ala567=) rs898456068 0.00003
NM_018127.7(ELAC2):c.1858G>A (p.Ala620Thr) rs960361937 0.00003
NM_018127.7(ELAC2):c.2108+13G>A rs190562664 0.00003
NM_018127.7(ELAC2):c.2115G>A (p.Thr705=) rs755866051 0.00003
NM_018127.7(ELAC2):c.2169C>T (p.Asn723=) rs781475188 0.00003
NM_018127.7(ELAC2):c.2220C>T (p.Ser740=) rs140626107 0.00003
NM_018127.7(ELAC2):c.222C>G (p.Leu74=) rs373242425 0.00003
NM_018127.7(ELAC2):c.2372G>A (p.Arg791Gln) rs148819805 0.00003
NM_018127.7(ELAC2):c.35C>T (p.Ala12Val) rs111252262 0.00003
NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg) rs374005835 0.00003
NM_018127.7(ELAC2):c.445G>A (p.Glu149Lys) rs779607134 0.00003
NM_018127.7(ELAC2):c.46A>G (p.Met16Val) rs533396669 0.00003
NM_018127.7(ELAC2):c.559+17G>C rs765765916 0.00003
NM_018127.7(ELAC2):c.659A>G (p.Asn220Ser) rs779111320 0.00003
NM_018127.7(ELAC2):c.679+9A>G rs756430924 0.00003
NM_018127.7(ELAC2):c.856C>T (p.His286Tyr) rs1184764865 0.00003
NM_018127.7(ELAC2):c.871-17C>T rs373231098 0.00003
NM_018127.7(ELAC2):c.983+10G>A rs552626383 0.00003
NM_018127.7(ELAC2):c.1008C>T (p.Pro336=) rs769647706 0.00002
NM_018127.7(ELAC2):c.1080-20C>T rs371507910 0.00002
NM_018127.7(ELAC2):c.120G>T (p.Leu40=) rs368781017 0.00002
NM_018127.7(ELAC2):c.1351C>A (p.Leu451Met) rs761514025 0.00002
NM_018127.7(ELAC2):c.144G>A (p.Pro48=) rs1231034298 0.00002
NM_018127.7(ELAC2):c.1490G>A (p.Arg497Gln) rs531523727 0.00002
NM_018127.7(ELAC2):c.1577G>A (p.Arg526His) rs775698705 0.00002
NM_018127.7(ELAC2):c.1613C>G (p.Thr538Ser) rs770299965 0.00002
NM_018127.7(ELAC2):c.1617G>C (p.Leu539=) rs539598982 0.00002
NM_018127.7(ELAC2):c.1645G>A (p.Ala549Thr) rs757284769 0.00002
NM_018127.7(ELAC2):c.1743C>T (p.Pro581=) rs1838655732 0.00002
NM_018127.7(ELAC2):c.1956G>A (p.Ala652=) rs776752737 0.00002
NM_018127.7(ELAC2):c.19C>G (p.Leu7Val) rs1003043105 0.00002
NM_018127.7(ELAC2):c.2030-2A>G rs1033730754 0.00002
NM_018127.7(ELAC2):c.2109-17C>G rs1053943347 0.00002
NM_018127.7(ELAC2):c.2226A>G (p.Lys742=) rs773995732 0.00002
NM_018127.7(ELAC2):c.2363G>A (p.Arg788Gln) rs567494102 0.00002
NM_018127.7(ELAC2):c.2418G>C (p.Gly806=) rs144228112 0.00002
NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp) rs767611235 0.00002
NM_018127.7(ELAC2):c.245+19C>A rs1037457378 0.00002
NM_018127.7(ELAC2):c.293A>G (p.His98Arg) rs1471918559 0.00002
NM_018127.7(ELAC2):c.393C>T (p.Thr131=) rs747138055 0.00002
NM_018127.7(ELAC2):c.39A>T (p.Gly13=) rs906248515 0.00002
NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu) rs139453392 0.00002
NM_018127.7(ELAC2):c.550C>T (p.Pro184Ser) rs755308728 0.00002
NM_018127.7(ELAC2):c.566A>G (p.Gln189Arg) rs779337966 0.00002
NM_018127.7(ELAC2):c.65T>C (p.Ile22Thr) rs934103595 0.00002
NM_018127.7(ELAC2):c.680G>A (p.Gly227Asp) rs746132751 0.00002
NM_018127.7(ELAC2):c.721G>A (p.Val241Ile) rs766704172 0.00002
NM_018127.7(ELAC2):c.797+9G>T rs762820869 0.00002
NM_018127.7(ELAC2):c.798-13C>G rs371733501 0.00002
NM_018127.7(ELAC2):c.841G>A (p.Gly281Arg) rs147215643 0.00002
NM_018127.7(ELAC2):c.8C>T (p.Ala3Val) rs1273371887 0.00002
NM_018127.7(ELAC2):c.983+14T>A rs758970515 0.00002
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) rs387906327 0.00001
NM_018127.7(ELAC2):c.1004C>T (p.Ala335Val) rs187079048 0.00001
NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp) rs757575765 0.00001
NM_018127.7(ELAC2):c.1080-12G>A rs1447133657 0.00001
NM_018127.7(ELAC2):c.1080-17G>C rs772301440 0.00001
NM_018127.7(ELAC2):c.1080-19C>T rs763737021 0.00001
NM_018127.7(ELAC2):c.1151A>T (p.Lys384Met) rs752533400 0.00001
NM_018127.7(ELAC2):c.1161C>T (p.Thr387=) rs1057521455 0.00001
NM_018127.7(ELAC2):c.118C>T (p.Leu40=) rs983405562 0.00001
NM_018127.7(ELAC2):c.1218+20C>T rs1367660839 0.00001
NM_018127.7(ELAC2):c.1227C>T (p.Gly409=) rs138100769 0.00001
NM_018127.7(ELAC2):c.1257T>G (p.Gly419=) rs2040855188 0.00001
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.127C>A (p.Arg43=) rs1598280966 0.00001
NM_018127.7(ELAC2):c.1282C>T (p.Arg428Cys) rs775958815 0.00001
NM_018127.7(ELAC2):c.1286C>G (p.Pro429Arg) rs1285444804 0.00001
NM_018127.7(ELAC2):c.1305-10C>T rs771858858 0.00001
NM_018127.7(ELAC2):c.1305-2A>G rs779254943 0.00001
NM_018127.7(ELAC2):c.1323C>G (p.Cys441Trp) rs1567751438 0.00001
NM_018127.7(ELAC2):c.132G>A (p.Glu44=) rs933215096 0.00001
NM_018127.7(ELAC2):c.134A>G (p.Lys45Arg) rs745328310 0.00001
NM_018127.7(ELAC2):c.136C>T (p.Arg46Cys) rs2041835898 0.00001
NM_018127.7(ELAC2):c.1375A>G (p.Ser459Gly) rs760132087 0.00001
NM_018127.7(ELAC2):c.1400C>T (p.Ala467Val) rs749460308 0.00001
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter) rs138114191 0.00001
NM_018127.7(ELAC2):c.1436A>G (p.Gln479Arg) rs1165336639 0.00001
NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala) rs1474253067 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018127.7(ELAC2):c.146C>T (p.Ser49Leu) rs1235154753 0.00001
NM_018127.7(ELAC2):c.1476C>T (p.Ile492=) rs766476173 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.1524C>T (p.Pro508=) rs746298894 0.00001
NM_018127.7(ELAC2):c.1530G>A (p.Thr510=) rs202041978 0.00001
NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) rs1240684251 0.00001
NM_018127.7(ELAC2):c.1608G>A (p.Leu536=) rs773774169 0.00001
NM_018127.7(ELAC2):c.1646C>T (p.Ala549Val) rs753617499 0.00001
NM_018127.7(ELAC2):c.1658C>T (p.Thr553Met) rs755904309 0.00001
NM_018127.7(ELAC2):c.1669A>G (p.Ser557Gly) rs920039553 0.00001
NM_018127.7(ELAC2):c.1680G>A (p.Leu560=) rs1204658530 0.00001
NM_018127.7(ELAC2):c.1686A>G (p.Arg562=) rs376766610 0.00001
NM_018127.7(ELAC2):c.1698+18T>G rs773809126 0.00001
NM_018127.7(ELAC2):c.1699-19C>G rs371530852 0.00001
NM_018127.7(ELAC2):c.1699-20A>G rs1489448575 0.00001
NM_018127.7(ELAC2):c.1722C>T (p.His574=) rs770617287 0.00001
NM_018127.7(ELAC2):c.1728G>C (p.Leu576Phe) rs2040437747 0.00001
NM_018127.7(ELAC2):c.178C>T (p.Leu60=) rs1266677255 0.00001
NM_018127.7(ELAC2):c.1808+15C>T rs930358086 0.00001
NM_018127.7(ELAC2):c.1820C>T (p.Ala607Val) rs913207452 0.00001
NM_018127.7(ELAC2):c.1876A>G (p.Ser626Gly) rs745680653 0.00001
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter) rs781680309 0.00001
NM_018127.7(ELAC2):c.1915A>G (p.Thr639Ala) rs758792385 0.00001
NM_018127.7(ELAC2):c.1927C>T (p.Arg643Trp) rs373464578 0.00001
NM_018127.7(ELAC2):c.1988A>G (p.Tyr663Cys) rs781379178 0.00001
NM_018127.7(ELAC2):c.1993G>A (p.Gly665Arg) rs777258865 0.00001
NM_018127.7(ELAC2):c.2007C>G (p.Pro669=) rs780790017 0.00001
NM_018127.7(ELAC2):c.2011G>A (p.Glu671Lys) rs754567726 0.00001
NM_018127.7(ELAC2):c.2017C>T (p.Leu673=) rs200759780 0.00001
NM_018127.7(ELAC2):c.2020G>A (p.Val674Ile) rs750302074 0.00001
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp) rs1157458251 0.00001
NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln) rs765368974 0.00001
NM_018127.7(ELAC2):c.2030-6C>T rs548603402 0.00001
NM_018127.7(ELAC2):c.2076T>G (p.Gly692=) rs577239094 0.00001
NM_018127.7(ELAC2):c.2108+12C>T rs757853122 0.00001
NM_018127.7(ELAC2):c.2109-19C>G rs893950337 0.00001
NM_018127.7(ELAC2):c.2112A>G (p.Thr704=) rs998359804 0.00001
NM_018127.7(ELAC2):c.2118C>G (p.Ser706=) rs752923351 0.00001
NM_018127.7(ELAC2):c.2131G>A (p.Val711Met) rs560136994 0.00001
NM_018127.7(ELAC2):c.2148C>T (p.Asn716=) rs759078534 0.00001
NM_018127.7(ELAC2):c.2149G>A (p.Ala717Thr) rs796103645 0.00001
NM_018127.7(ELAC2):c.2163G>T (p.Met721Ile) rs769609689 0.00001
NM_018127.7(ELAC2):c.2249T>G (p.Met750Arg) rs769686385 0.00001
NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys) rs137859574 0.00001
NM_018127.7(ELAC2):c.2254-11G>A rs553919919 0.00001
NM_018127.7(ELAC2):c.2254-5T>G rs922658791 0.00001
NM_018127.7(ELAC2):c.2254-8T>C rs186366777 0.00001
NM_018127.7(ELAC2):c.226G>A (p.Val76Ile) rs377073548 0.00001
NM_018127.7(ELAC2):c.2291T>G (p.Ile764Ser) rs779668862 0.00001
NM_018127.7(ELAC2):c.2295C>G (p.Pro765=) rs371543722 0.00001
NM_018127.7(ELAC2):c.22C>T (p.Leu8=) rs754652199 0.00001
NM_018127.7(ELAC2):c.2333T>C (p.Met778Thr) rs774664159 0.00001
NM_018127.7(ELAC2):c.2341C>T (p.Arg781Cys) rs770865114 0.00001
NM_018127.7(ELAC2):c.2370G>A (p.Val790=) rs143840985 0.00001
NM_018127.7(ELAC2):c.2423C>T (p.Pro808Leu) rs1187954440 0.00001
NM_018127.7(ELAC2):c.2426A>T (p.Gln809Leu) rs922510869 0.00001
NM_018127.7(ELAC2):c.2445_2447del (p.Glu817del) rs1377575423 0.00001
NM_018127.7(ELAC2):c.245+17C>A rs754772263 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.2455C>T (p.Gln819Ter) rs1439706479 0.00001
NM_018127.7(ELAC2):c.2467G>T (p.Val823Phe) rs376515152 0.00001
NM_018127.7(ELAC2):c.24G>A (p.Leu8=) rs1598281471 0.00001
NM_018127.7(ELAC2):c.259T>C (p.Cys87Arg) rs753052433 0.00001
NM_018127.7(ELAC2):c.271G>A (p.Val91Ile) rs750042259 0.00001
NM_018127.7(ELAC2):c.297-4T>C rs376806455 0.00001
NM_018127.7(ELAC2):c.303G>A (p.Lys101=) rs777807535 0.00001
NM_018127.7(ELAC2):c.310C>T (p.Arg104Cys) rs748205884 0.00001
NM_018127.7(ELAC2):c.357G>A (p.Gly119=) rs376498988 0.00001
NM_018127.7(ELAC2):c.361T>C (p.Leu121=) rs200893345 0.00001
NM_018127.7(ELAC2):c.368-11A>G rs750133002 0.00001
NM_018127.7(ELAC2):c.372G>A (p.Met124Ile) rs765484266 0.00001
NM_018127.7(ELAC2):c.432+15A>C rs754403836 0.00001
NM_018127.7(ELAC2):c.432+18C>T rs779908196 0.00001
NM_018127.7(ELAC2):c.432+1G>A rs769454280 0.00001
NM_018127.7(ELAC2):c.433-5A>G rs373498430 0.00001
NM_018127.7(ELAC2):c.45C>T (p.Thr15=) rs551832115 0.00001
NM_018127.7(ELAC2):c.491-6T>C rs755040798 0.00001
NM_018127.7(ELAC2):c.495G>A (p.Val165=) rs751671002 0.00001
NM_018127.7(ELAC2):c.50C>T (p.Ser17Leu) rs765096739 0.00001
NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser) rs775086832 0.00001
NM_018127.7(ELAC2):c.537A>C (p.Thr179=) rs755930395 0.00001
NM_018127.7(ELAC2):c.546G>C (p.Gln182His) rs747959167 0.00001
NM_018127.7(ELAC2):c.559+16A>G rs1449825249 0.00001
NM_018127.7(ELAC2):c.560-10T>C rs1318229217 0.00001
NM_018127.7(ELAC2):c.582C>T (p.His194=) rs764486912 0.00001
NM_018127.7(ELAC2):c.623G>A (p.Ser208Asn) rs1392434007 0.00001
NM_018127.7(ELAC2):c.631C>T (p.Arg211Ter) rs761881815 0.00001
NM_018127.7(ELAC2):c.651G>A (p.Ser217=) rs201530031 0.00001
NM_018127.7(ELAC2):c.668A>G (p.His223Arg) rs745937151 0.00001
NM_018127.7(ELAC2):c.677A>G (p.His226Arg) rs757735135 0.00001
NM_018127.7(ELAC2):c.680-11T>G rs1367528939 0.00001
NM_018127.7(ELAC2):c.69G>T (p.Ser23=) rs1299982871 0.00001
NM_018127.7(ELAC2):c.703A>G (p.Arg235Gly) rs1567767157 0.00001
NM_018127.7(ELAC2):c.716T>C (p.Leu239Pro) rs750047784 0.00001
NM_018127.7(ELAC2):c.738+7A>C rs767269129 0.00001
NM_018127.7(ELAC2):c.738+9G>C rs188872129 0.00001
NM_018127.7(ELAC2):c.739-11C>T rs919712707 0.00001
NM_018127.7(ELAC2):c.82C>T (p.Arg28Cys) rs763864314 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NM_018127.7(ELAC2):c.895C>A (p.Pro299Thr) rs771897223 0.00001
NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala) rs188256643 0.00001
NM_018127.7(ELAC2):c.967A>G (p.Asn323Asp) rs1305210872 0.00001
NM_018127.7(ELAC2):c.983+6G>C rs1288953158 0.00001
NM_018127.7(ELAC2):c.984-18C>A rs1382193290 0.00001
NC_000017.10:g.(?_12896135)_(12909316_?)dup
NC_000017.10:g.(?_12896135)_(12921264_?)del
NC_000017.10:g.(?_12896135)_(12921264_?)dup
NC_000017.10:g.(?_12896201)_(12896263_?)dup
NC_000017.10:g.(?_12920159)_(12920458_?)del
NC_000017.11:g.13016942_13016943insGAAAACATTTAAACAGGATAACATGAACAGAACAAGCAACCTTTAACCTAAGAATGA
NM_018127.7(ELAC2):c.1006C>T (p.Pro336Ser) rs565351884
NM_018127.7(ELAC2):c.1011G>T (p.Val337=)
NM_018127.7(ELAC2):c.1014C>T (p.Ala338=) rs2143613110
NM_018127.7(ELAC2):c.1017GGT[1] (p.Val341del) rs1344475140
NM_018127.7(ELAC2):c.102G>A (p.Lys34=)
NM_018127.7(ELAC2):c.1030G>A (p.Ala344Thr)
NM_018127.7(ELAC2):c.1034C>G (p.Pro345Arg) rs2143612955
NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)
NM_018127.7(ELAC2):c.1039T>C (p.Ser347Pro)
NM_018127.7(ELAC2):c.1048G>A (p.Val350Met) rs2143612862
NM_018127.7(ELAC2):c.1049T>G (p.Val350Gly) rs2143612845
NM_018127.7(ELAC2):c.1052A>G (p.Asp351Gly)
NM_018127.7(ELAC2):c.1053C>G (p.Asp351Glu) rs991150757
NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
NM_018127.7(ELAC2):c.106C>T (p.Pro36Ser)
NM_018127.7(ELAC2):c.1079+19C>T
NM_018127.7(ELAC2):c.1079+20G>A
NM_018127.7(ELAC2):c.107C>T (p.Pro36Leu)
NM_018127.7(ELAC2):c.1080-16dup
NM_018127.7(ELAC2):c.1080-18G>A rs775647349
NM_018127.7(ELAC2):c.1080-19C>G
NM_018127.7(ELAC2):c.1080-1G>C rs2143607002
NM_018127.7(ELAC2):c.1080-20C>A
NM_018127.7(ELAC2):c.1080-3C>T rs538756575
NM_018127.7(ELAC2):c.1080-5C>T
NM_018127.7(ELAC2):c.1081T>G (p.Phe361Val)
NM_018127.7(ELAC2):c.1094C>T (p.Thr365Ile) rs1000361851
NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)
NM_018127.7(ELAC2):c.1108C>G (p.Leu370Val) rs2143606789
NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)
NM_018127.7(ELAC2):c.1120_1121delinsCT (p.Cys374Leu) rs2143606682
NM_018127.7(ELAC2):c.1129G>T (p.Val377Phe) rs1411516008
NM_018127.7(ELAC2):c.1137C>A (p.Asn379Lys)
NM_018127.7(ELAC2):c.1147C>A (p.His383Asn) rs187129692
NM_018127.7(ELAC2):c.1147C>T (p.His383Tyr)
NM_018127.7(ELAC2):c.1163A>G (p.Gln388Arg) rs759815679
NM_018127.7(ELAC2):c.1169A>G (p.Asn390Ser)
NM_018127.7(ELAC2):c.1171C>G (p.Leu391Val)
NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)
NM_018127.7(ELAC2):c.117C>A (p.His39Gln) rs748570371
NM_018127.7(ELAC2):c.117C>T (p.His39=)
NM_018127.7(ELAC2):c.1182G>A (p.Pro394=)
NM_018127.7(ELAC2):c.1185C>T (p.Asp395=)
NM_018127.7(ELAC2):c.1186A>T (p.Ile396Phe) rs149544601
NM_018127.7(ELAC2):c.1189T>C (p.Phe397Leu) rs2143606118
NM_018127.7(ELAC2):c.118C>G (p.Leu40Val)
NM_018127.7(ELAC2):c.1191C>T (p.Phe397=) rs1167915234
NM_018127.7(ELAC2):c.1200C>A (p.Leu400=)
NM_018127.7(ELAC2):c.120G>A (p.Leu40=) rs368781017
NM_018127.7(ELAC2):c.1211G>A (p.Arg404His) rs200565641
NM_018127.7(ELAC2):c.1211G>T (p.Arg404Leu) rs200565641
NM_018127.7(ELAC2):c.1212C>T (p.Arg404=) rs2143605832
NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr)
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
NM_018127.7(ELAC2):c.1218+19C>T
NM_018127.7(ELAC2):c.1218+5T>C rs1365154419
NM_018127.7(ELAC2):c.1218G>A (p.Lys406=) rs777546567
NM_018127.7(ELAC2):c.1219-12T>C
NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)
NM_018127.7(ELAC2):c.1237A>T (p.Ser413Cys) rs754722229
NM_018127.7(ELAC2):c.1238G>A (p.Ser413Asn) rs1446980653
NM_018127.7(ELAC2):c.1242G>A (p.Val414=)
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
NM_018127.7(ELAC2):c.1248G>A (p.Met416Ile)
NM_018127.7(ELAC2):c.1255G>A (p.Gly419Ser)
NM_018127.7(ELAC2):c.1262G>C (p.Cys421Ser)
NM_018127.7(ELAC2):c.1264C>T (p.Leu422Phe) rs1311991142
NM_018127.7(ELAC2):c.1266C>G (p.Leu422=) rs764718395
NM_018127.7(ELAC2):c.126G>C (p.Thr42=)
NM_018127.7(ELAC2):c.1275C>T (p.Tyr425=)
NM_018127.7(ELAC2):c.1278G>A (p.Gln426=) rs1360216860
NM_018127.7(ELAC2):c.1289G>C (p.Arg430Thr)
NM_018127.7(ELAC2):c.12T>C (p.Leu4=)
NM_018127.7(ELAC2):c.1304+15G>A
NM_018127.7(ELAC2):c.1304+9C>T
NM_018127.7(ELAC2):c.1305-11_1305-8del
NM_018127.7(ELAC2):c.1305-12C>G
NM_018127.7(ELAC2):c.1305-12C>T rs779858810
NM_018127.7(ELAC2):c.1305-14C>T
NM_018127.7(ELAC2):c.1305-20G>A
NM_018127.7(ELAC2):c.1305-6dup rs200410915
NM_018127.7(ELAC2):c.1305-8_1305-7insTC
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC rs201830045
NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser) rs1205360358
NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)
NM_018127.7(ELAC2):c.1348G>T (p.Ala450Ser)
NM_018127.7(ELAC2):c.1349C>T (p.Ala450Val)
NM_018127.7(ELAC2):c.134A>C (p.Lys45Thr) rs745328310
NM_018127.7(ELAC2):c.1373A>G (p.Gln458Arg) rs1567751319
NM_018127.7(ELAC2):c.1377C>T (p.Ser459=) rs1337946720
NM_018127.7(ELAC2):c.1385A>C (p.Glu462Ala) rs1310120837
NM_018127.7(ELAC2):c.1392GAG[1] (p.Arg465del) rs758221167
NM_018127.7(ELAC2):c.1394G>A (p.Arg465Lys)
NM_018127.7(ELAC2):c.1401G>A (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1401G>T (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1405G>A (p.Asp469Asn)
NM_018127.7(ELAC2):c.1407C>T (p.Asp469=)
NM_018127.7(ELAC2):c.1418C>A (p.Pro473Gln)
NM_018127.7(ELAC2):c.141A>G (p.Gly47=) rs1240011554
NM_018127.7(ELAC2):c.1423+11G>T
NM_018127.7(ELAC2):c.1423+19A>G
NM_018127.7(ELAC2):c.1423+9G>T
NM_018127.7(ELAC2):c.1424-12A>G
NM_018127.7(ELAC2):c.1424-3C>T rs878855048
NM_018127.7(ELAC2):c.1424-5dup
NM_018127.7(ELAC2):c.1424-6del rs2040589080
NM_018127.7(ELAC2):c.1424-6dup
NM_018127.7(ELAC2):c.1428AAG[1] (p.Arg477del) rs779224899
NM_018127.7(ELAC2):c.1431A>T (p.Arg477Ser)
NM_018127.7(ELAC2):c.1434T>A (p.Ser478Arg)
NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)
NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)
NM_018127.7(ELAC2):c.1442C>T (p.Pro481Leu)
NM_018127.7(ELAC2):c.144G>T (p.Pro48=)
NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)
NM_018127.7(ELAC2):c.145T>C (p.Ser49Pro) rs1555584447
NM_018127.7(ELAC2):c.1463C>G (p.Thr488Arg)
NM_018127.7(ELAC2):c.1463C>T (p.Thr488Ile) rs931963687
NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)
NM_018127.7(ELAC2):c.1476C>G (p.Ile492Met)
NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=) rs140335642
NM_018127.7(ELAC2):c.1481T>C (p.Met494Thr)
NM_018127.7(ELAC2):c.1506A>G (p.Thr502=) rs962470752
NM_018127.7(ELAC2):c.1507C>T (p.Leu503Phe)
NM_018127.7(ELAC2):c.151T>C (p.Cys51Arg) rs2041834237
NM_018127.7(ELAC2):c.1520+7T>C
NM_018127.7(ELAC2):c.1520+9C>T
NM_018127.7(ELAC2):c.1521-2A>G
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
NM_018127.7(ELAC2):c.153C>T (p.Cys51=) rs1394698609
NM_018127.7(ELAC2):c.1547G>A (p.Cys516Tyr) rs970054118
NM_018127.7(ELAC2):c.154T>C (p.Ser52Pro) rs755823018
NM_018127.7(ELAC2):c.1550G>T (p.Gly517Val)
NM_018127.7(ELAC2):c.1559_1560inv (p.Thr520Met)
NM_018127.7(ELAC2):c.155C>A (p.Ser52Tyr) rs9895963
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe) rs9895963
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_018127.7(ELAC2):c.1560A>T (p.Thr520=)
NM_018127.7(ELAC2):c.1563T>G (p.Phe521Leu) rs761488832
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018127.7(ELAC2):c.156C>A (p.Ser52=)
NM_018127.7(ELAC2):c.157G>T (p.Gly53Cys) rs1598280792
NM_018127.7(ELAC2):c.1585G>A (p.Gly529Arg) rs1567746262
NM_018127.7(ELAC2):c.159C>G (p.Gly53=)
NM_018127.7(ELAC2):c.161G>T (p.Gly54Val)
NM_018127.7(ELAC2):c.1626G>A (p.Val542=)
NM_018127.7(ELAC2):c.162C>G (p.Gly54=) rs2143697041
NM_018127.7(ELAC2):c.1630G>T (p.Val544Leu)
NM_018127.7(ELAC2):c.1638C>T (p.His546=) rs1489337164
NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)
NM_018127.7(ELAC2):c.1641G>A (p.Leu547=) rs1598205310
NM_018127.7(ELAC2):c.1644C>T (p.His548=)
NM_018127.7(ELAC2):c.1648G>T (p.Asp550Tyr)
NM_018127.7(ELAC2):c.1651C>A (p.His551Asn) rs1487812489
NM_018127.7(ELAC2):c.1659+12G>C
NM_018127.7(ELAC2):c.1659+12G>T
NM_018127.7(ELAC2):c.1659+20A>G
NM_018127.7(ELAC2):c.1659+2dup
NM_018127.7(ELAC2):c.1659+3G>A rs374767852
NM_018127.7(ELAC2):c.1659+5G>A rs2143568451
NM_018127.7(ELAC2):c.1659+8T>C
NM_018127.7(ELAC2):c.1659G>C (p.Thr553=)
NM_018127.7(ELAC2):c.1660-10T>C rs1373415355
NM_018127.7(ELAC2):c.1660-10T>G
NM_018127.7(ELAC2):c.1660-17T>G rs2143564288
NM_018127.7(ELAC2):c.1662C>T (p.Gly554=)
NM_018127.7(ELAC2):c.1666C>G (p.Pro556Ala) rs2040449069
NM_018127.7(ELAC2):c.1670G>A (p.Ser557Asn)
NM_018127.7(ELAC2):c.1673T>C (p.Ile558Thr)
NM_018127.7(ELAC2):c.1674C>T (p.Ile558=)
NM_018127.7(ELAC2):c.1675T>G (p.Leu559Val)
NM_018127.7(ELAC2):c.1676TGC[1] (p.Leu560del) rs2040448051
NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)
NM_018127.7(ELAC2):c.1679T>A (p.Leu560Gln)
NM_018127.7(ELAC2):c.1690C>T (p.Arg564Cys)
NM_018127.7(ELAC2):c.1693G>A (p.Ala565Thr)
NM_018127.7(ELAC2):c.1696T>C (p.Leu566=) rs2143563741
NM_018127.7(ELAC2):c.1698+5G>A rs910420350
NM_018127.7(ELAC2):c.1699-15C>A rs754311468
NM_018127.7(ELAC2):c.1699-15C>G
NM_018127.7(ELAC2):c.1699-16G>A rs765833496
NM_018127.7(ELAC2):c.1699-1G>A
NM_018127.7(ELAC2):c.1699-8dup rs878855049
NM_018127.7(ELAC2):c.1702T>C (p.Ser568Pro) rs2143562579
NM_018127.7(ELAC2):c.1706del (p.Leu569fs) rs2143562536
NM_018127.7(ELAC2):c.1713G>A (p.Lys571=)
NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu)
NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)
NM_018127.7(ELAC2):c.171C>G (p.Thr57=)
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
NM_018127.7(ELAC2):c.1729C>G (p.Leu577Val)
NM_018127.7(ELAC2):c.1731G>C (p.Leu577=) rs772768599
NM_018127.7(ELAC2):c.1731_1732delinsCT (p.Val578Leu) rs2143562254
NM_018127.7(ELAC2):c.1735G>C (p.Val579Leu) rs1365874986
NM_018127.7(ELAC2):c.1745A>G (p.Asn582Ser)
NM_018127.7(ELAC2):c.174G>C (p.Val58=)
NM_018127.7(ELAC2):c.1770G>C (p.Gln590His)
NM_018127.7(ELAC2):c.1778A>G (p.Asn593Ser)
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu) rs1435693717
NM_018127.7(ELAC2):c.1794C>T (p.Val598=)
NM_018127.7(ELAC2):c.1796T>C (p.Leu599Pro) rs2143561613
NM_018127.7(ELAC2):c.1808+14del rs761236461
NM_018127.7(ELAC2):c.1808+4A>G rs1044835449
NM_018127.7(ELAC2):c.1808+7A>G
NM_018127.7(ELAC2):c.1809-10C>T rs2040403434
NM_018127.7(ELAC2):c.1809-14T>G
NM_018127.7(ELAC2):c.1809-19A>G
NM_018127.7(ELAC2):c.1809-1G>A
NM_018127.7(ELAC2):c.1809-5del
NM_018127.7(ELAC2):c.180G>C (p.Leu60=)
NM_018127.7(ELAC2):c.1823A>G (p.Lys608Arg) rs2143557076
NM_018127.7(ELAC2):c.183G>T (p.Gln61His)
NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)
NM_018127.7(ELAC2):c.1848C>G (p.Ile616Met)
NM_018127.7(ELAC2):c.184G>C (p.Val62Leu)
NM_018127.7(ELAC2):c.1850C>G (p.Ser617Cys) rs2143556871
NM_018127.7(ELAC2):c.1861G>C (p.Val621Leu)
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) rs119484087
NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=) rs375891204
NM_018127.7(ELAC2):c.1889G>A (p.Arg630Gln)
NM_018127.7(ELAC2):c.1897G>A (p.Asp633Asn) rs2143556453
NM_018127.7(ELAC2):c.1908+16G>A rs773964699
NM_018127.7(ELAC2):c.1908+16G>T rs773964699
NM_018127.7(ELAC2):c.1908+1G>A rs1014558424
NM_018127.7(ELAC2):c.1908+20G>A
NM_018127.7(ELAC2):c.1908+3A>G rs1164400207
NM_018127.7(ELAC2):c.1908+7G>A
NM_018127.7(ELAC2):c.1908+8G>A
NM_018127.7(ELAC2):c.1908+9C>T
NM_018127.7(ELAC2):c.1908G>A (p.Glu636=)
NM_018127.7(ELAC2):c.1909-11C>T
NM_018127.7(ELAC2):c.1909-14C>T
NM_018127.7(ELAC2):c.1917C>T (p.Thr639=)
NM_018127.7(ELAC2):c.1926G>A (p.Val642=)
NM_018127.7(ELAC2):c.1928G>A (p.Arg643Gln) rs199545091
NM_018127.7(ELAC2):c.1928G>T (p.Arg643Leu)
NM_018127.7(ELAC2):c.1935C>T (p.Cys645=)
NM_018127.7(ELAC2):c.1937A>G (p.Lys646Arg)
NM_018127.7(ELAC2):c.1940A>T (p.His647Leu) rs1343793177
NM_018127.7(ELAC2):c.1944G>A (p.Ala648=)
NM_018127.7(ELAC2):c.1944G>T (p.Ala648=)
NM_018127.7(ELAC2):c.1959G>A (p.Leu653=)
NM_018127.7(ELAC2):c.1962G>A (p.Val654=)
NM_018127.7(ELAC2):c.1985T>C (p.Val662Ala) rs1555572124
NM_018127.7(ELAC2):c.1986C>T (p.Val662=) rs772271496
NM_018127.7(ELAC2):c.198T>C (p.Gly66=)
NM_018127.7(ELAC2):c.1999A>G (p.Thr667Ala)
NM_018127.7(ELAC2):c.2000C>T (p.Thr667Ile) rs961586097
NM_018127.7(ELAC2):c.2003T>C (p.Met668Thr) rs376231184
NM_018127.7(ELAC2):c.200G>T (p.Ser67Ile) rs1386145788
NM_018127.7(ELAC2):c.2010C>T (p.Cys670=) rs1598197387
NM_018127.7(ELAC2):c.2026A>G (p.Met676Val) rs2143554465
NM_018127.7(ELAC2):c.2029+10G>A rs2143554371
NM_018127.7(ELAC2):c.2029+11G>T rs2143554341
NM_018127.7(ELAC2):c.2029+19A>C
NM_018127.7(ELAC2):c.2029+1G>A
NM_018127.7(ELAC2):c.2029+5G>A
NM_018127.7(ELAC2):c.202C>T (p.Arg68Trp)
NM_018127.7(ELAC2):c.2030-11T>C
NM_018127.7(ELAC2):c.2030-12C>T
NM_018127.7(ELAC2):c.2030-18del
NM_018127.7(ELAC2):c.2030-3del rs768715038
NM_018127.7(ELAC2):c.2030-4C>T
NM_018127.7(ELAC2):c.2034A>G (p.Lys678=)
NM_018127.7(ELAC2):c.2047C>T (p.Leu683=)
NM_018127.7(ELAC2):c.2049G>A (p.Leu683=)
NM_018127.7(ELAC2):c.2064C>T (p.Thr688=)
NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg) rs2040364723
NM_018127.7(ELAC2):c.2073T>C (p.Asp691=)
NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys) rs1426760558
NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)
NM_018127.7(ELAC2):c.2096A>C (p.Glu699Ala)
NM_018127.7(ELAC2):c.2108+8del rs2143551878
NM_018127.7(ELAC2):c.2108+9G>A rs2143551870
NM_018127.7(ELAC2):c.2109-15G>A
NM_018127.7(ELAC2):c.2109-18T>C
NM_018127.7(ELAC2):c.2109-6_2111del
NM_018127.7(ELAC2):c.2114C>A (p.Thr705Lys)
NM_018127.7(ELAC2):c.2121A>G (p.Gln707=)
NM_018127.7(ELAC2):c.2123C>T (p.Ala708Val) rs2040327532
NM_018127.7(ELAC2):c.212G>C (p.Gly71Ala) rs1185274134
NM_018127.7(ELAC2):c.2142G>T (p.Arg714=) rs878855050
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
NM_018127.7(ELAC2):c.214G>A (p.Ala72Thr)
NM_018127.7(ELAC2):c.215C>T (p.Ala72Val)
NM_018127.7(ELAC2):c.2164C>T (p.Leu722=)
NM_018127.7(ELAC2):c.2166G>C (p.Leu722=) rs747933914
NM_018127.7(ELAC2):c.2175C>T (p.Phe725=)
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter) rs946948334
NM_018127.7(ELAC2):c.2183G>A (p.Arg728His)
NM_018127.7(ELAC2):c.2184C>G (p.Arg728=) rs2143547737
NM_018127.7(ELAC2):c.218C>A (p.Ala73Glu) rs2143696607
NM_018127.7(ELAC2):c.2190C>T (p.Ala730=) rs2143547695
NM_018127.7(ELAC2):c.2199C>T (p.Pro733=) rs1598192992
NM_018127.7(ELAC2):c.2209C>T (p.Pro737Ser) rs2143547589
NM_018127.7(ELAC2):c.220C>T (p.Leu74Phe) rs752421786
NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)
NM_018127.7(ELAC2):c.2227G>A (p.Val743Met)
NM_018127.7(ELAC2):c.222C>T (p.Leu74=)
NM_018127.7(ELAC2):c.2233G>A (p.Val745Ile)
NM_018127.7(ELAC2):c.223T>C (p.Tyr75His)
NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr)
NM_018127.7(ELAC2):c.2253+14_2253+15del rs778977916
NM_018127.7(ELAC2):c.2253+15C>T
NM_018127.7(ELAC2):c.2253+16G>A rs1483814202
NM_018127.7(ELAC2):c.2253+20A>G
NM_018127.7(ELAC2):c.2253+6_2253+321del rs2143544217
NM_018127.7(ELAC2):c.2254-13T>C
NM_018127.7(ELAC2):c.2254-14A>G
NM_018127.7(ELAC2):c.2254-9G>C
NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)
NM_018127.7(ELAC2):c.2266_2267del (p.Asp756fs) rs2040267666
NM_018127.7(ELAC2):c.2278_2298dup (p.Pro766_Leu767insMetProLysLeuIleProPro)
NM_018127.7(ELAC2):c.2289G>C (p.Leu763=) rs141048290
NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)
NM_018127.7(ELAC2):c.2308_2309del (p.Leu770fs) rs753154933
NM_018127.7(ELAC2):c.2312_2313del (p.Phe771fs)
NM_018127.7(ELAC2):c.231C>T (p.Phe77=) rs776980036
NM_018127.7(ELAC2):c.2320G>A (p.Asp774Asn)
NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val)
NM_018127.7(ELAC2):c.2324T>A (p.Ile775Asn) rs1470895228
NM_018127.7(ELAC2):c.2325C>T (p.Ile775=) rs775479429
NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys)
NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)
NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu)
NM_018127.7(ELAC2):c.2338_2349del (p.Glu780_Glu783del) rs1395507635
NM_018127.7(ELAC2):c.2342G>T (p.Arg781Leu) rs119484086
NM_018127.7(ELAC2):c.234C>G (p.Ser78=)
NM_018127.7(ELAC2):c.2351A>G (p.Lys784Arg)
NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp) rs1060502162
NM_018127.7(ELAC2):c.2365_2373dup (p.Arg791_Ala792insGlnValArg)
NM_018127.7(ELAC2):c.2367G>T (p.Gln789His) rs2143540323
NM_018127.7(ELAC2):c.2368G>A (p.Val790Met)
NM_018127.7(ELAC2):c.2374G>A (p.Ala792Thr) rs1567738119
NM_018127.7(ELAC2):c.2375_2380del (p.Ala792_Leu794delinsVal) rs2143540081
NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)
NM_018127.7(ELAC2):c.2380C>T (p.Leu794Phe)
NM_018127.7(ELAC2):c.2384T>C (p.Leu795Pro) rs917643446
NM_018127.7(ELAC2):c.2390G>A (p.Arg797Lys)
NM_018127.7(ELAC2):c.2392_2393delinsTT (p.Glu798Leu) rs2143539834
NM_018127.7(ELAC2):c.2392_2393inv (p.Glu798Ser)
NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)
NM_018127.7(ELAC2):c.2402G>A (p.Gly801Asp)
NM_018127.7(ELAC2):c.240C>G (p.Phe80Leu) rs764484752
NM_018127.7(ELAC2):c.2410del (p.Glu804fs) rs2143539521
NM_018127.7(ELAC2):c.2412G>A (p.Glu804=) rs1165224986
NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp)
NM_018127.7(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) rs878855051
NM_018127.7(ELAC2):c.2421G>A (p.Glu807=) rs2143539338
NM_018127.7(ELAC2):c.2422C>T (p.Pro808Ser)
NM_018127.7(ELAC2):c.2435G>A (p.Arg812Gln) rs560083267
NM_018127.7(ELAC2):c.2449G>A (p.Glu817Lys)
NM_018127.7(ELAC2):c.245+14C>T rs368694405
NM_018127.7(ELAC2):c.245+18G>T
NM_018127.7(ELAC2):c.245+9A>G
NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)
NM_018127.7(ELAC2):c.2457G>C (p.Gln819His)
NM_018127.7(ELAC2):c.2458G>A (p.Ala820Thr)
NM_018127.7(ELAC2):c.2459C>G (p.Ala820Gly) rs1412024900
NM_018127.7(ELAC2):c.246-14T>C
NM_018127.7(ELAC2):c.246-18G>A
NM_018127.7(ELAC2):c.246-20G>C
NM_018127.7(ELAC2):c.246-2A>G rs2143692659
NM_018127.7(ELAC2):c.246-7C>A
NM_018127.7(ELAC2):c.246-8T>C
NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr)
NM_018127.7(ELAC2):c.2467G>A (p.Val823Ile)
NM_018127.7(ELAC2):c.2472_2473del (p.Arg824fs) rs2143538654
NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)
NM_018127.7(ELAC2):c.257A>G (p.Asn86Ser)
NM_018127.7(ELAC2):c.268G>A (p.Gly90Ser)
NM_018127.7(ELAC2):c.273del (p.Gln92fs) rs748788377
NM_018127.7(ELAC2):c.282C>T (p.Leu94=) rs2143692376
NM_018127.7(ELAC2):c.283A>G (p.Met95Val)
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp)
NM_018127.7(ELAC2):c.294C>T (p.His98=)
NM_018127.7(ELAC2):c.296+11C>T
NM_018127.7(ELAC2):c.296+13_296+14del
NM_018127.7(ELAC2):c.296+3_296+6dup rs1182540305
NM_018127.7(ELAC2):c.297-14T>G
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.297-3T>A
NM_018127.7(ELAC2):c.297-5del
NM_018127.7(ELAC2):c.297-8A>G
NM_018127.7(ELAC2):c.297-9C>A
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
NM_018127.7(ELAC2):c.29C>T (p.Ser10Phe) rs2143698286
NM_018127.7(ELAC2):c.30C>G (p.Ser10=)
NM_018127.7(ELAC2):c.317A>G (p.Asp106Gly)
NM_018127.7(ELAC2):c.325T>C (p.Phe109Leu) rs1060502163
NM_018127.7(ELAC2):c.333A>G (p.Thr111=)
NM_018127.7(ELAC2):c.33G>A (p.Ala11=)
NM_018127.7(ELAC2):c.360C>T (p.Gly120=)
NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)
NM_018127.7(ELAC2):c.367+15T>C
NM_018127.7(ELAC2):c.367+15del
NM_018127.7(ELAC2):c.368-10T>C
NM_018127.7(ELAC2):c.368-7T>A
NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
NM_018127.7(ELAC2):c.385A>G (p.Lys129Glu) rs776742204
NM_018127.7(ELAC2):c.38G>A (p.Gly13Glu)
NM_018127.7(ELAC2):c.391A>G (p.Thr131Ala) rs2143685296
NM_018127.7(ELAC2):c.402A>G (p.Pro134=)
NM_018127.7(ELAC2):c.415T>C (p.Ser139Pro)
NM_018127.7(ELAC2):c.422C>T (p.Pro141Leu) rs1598274263
NM_018127.7(ELAC2):c.432+10T>C
NM_018127.7(ELAC2):c.432+11C>T
NM_018127.7(ELAC2):c.432+12del
NM_018127.7(ELAC2):c.432+17A>C
NM_018127.7(ELAC2):c.432+1del rs766739618
NM_018127.7(ELAC2):c.432+7C>T rs780918165
NM_018127.7(ELAC2):c.433-16C>T rs2143678464
NM_018127.7(ELAC2):c.433-20A>G rs780641263
NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys)
NM_018127.7(ELAC2):c.444C>G (p.Leu148=)
NM_018127.7(ELAC2):c.447A>G (p.Glu149=) rs2143678294
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.465T>C (p.Ser155=)
NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)
NM_018127.7(ELAC2):c.48G>A (p.Met16Ile)
NM_018127.7(ELAC2):c.490+11G>C
NM_018127.7(ELAC2):c.490+5G>A
NM_018127.7(ELAC2):c.491-4G>T
NM_018127.7(ELAC2):c.491-5T>C rs2143670362
NM_018127.7(ELAC2):c.491C>A (p.Ala164Asp)
NM_018127.7(ELAC2):c.493G>C (p.Val165Leu) rs2143670315
NM_018127.7(ELAC2):c.496C>G (p.Arg166Gly)
NM_018127.7(ELAC2):c.496C>T (p.Arg166Trp)
NM_018127.7(ELAC2):c.499C>T (p.Pro167Ser)
NM_018127.7(ELAC2):c.501C>G (p.Pro167=)
NM_018127.7(ELAC2):c.50C>G (p.Ser17Trp)
NM_018127.7(ELAC2):c.519C>T (p.Tyr173=) rs2143670005
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter) rs374954001
NM_018127.7(ELAC2):c.526G>A (p.Glu176Lys)
NM_018127.7(ELAC2):c.532A>G (p.Met178Val) rs1052094774
NM_018127.7(ELAC2):c.536C>T (p.Thr179Ile) rs2143669875
NM_018127.7(ELAC2):c.53A>C (p.Gln18Pro)
NM_018127.7(ELAC2):c.549C>G (p.Ile183Met)
NM_018127.7(ELAC2):c.554T>C (p.Ile185Thr)
NM_018127.7(ELAC2):c.557A>G (p.His186Arg)
NM_018127.7(ELAC2):c.559+12del
NM_018127.7(ELAC2):c.559+18G>A rs2041518961
NM_018127.7(ELAC2):c.559+7A>G
NM_018127.7(ELAC2):c.559+8T>C rs2143669591
NM_018127.7(ELAC2):c.560-12T>C
NM_018127.7(ELAC2):c.560-15A>G rs2041429226
NM_018127.7(ELAC2):c.560-18G>A
NM_018127.7(ELAC2):c.560-1G>A rs2143661948
NM_018127.7(ELAC2):c.560-6G>A rs2143661977
NM_018127.7(ELAC2):c.56_73del (p.Gly19_Gln24del) rs771710773
NM_018127.7(ELAC2):c.576A>G (p.Gly192=) rs1410606129
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_018127.7(ELAC2):c.593A>G (p.Gln198Arg)
NM_018127.7(ELAC2):c.597T>A (p.Ser199Arg)
NM_018127.7(ELAC2):c.604A>G (p.Arg202Gly)
NM_018127.7(ELAC2):c.606G>A (p.Arg202=)
NM_018127.7(ELAC2):c.613A>G (p.Ser205Gly) rs2143661549
NM_018127.7(ELAC2):c.621C>T (p.Leu207=)
NM_018127.7(ELAC2):c.627A>G (p.Pro209=)
NM_018127.7(ELAC2):c.63C>A (p.Thr21=)
NM_018127.7(ELAC2):c.640G>C (p.Asp214His)
NM_018127.7(ELAC2):c.646G>A (p.Glu216Lys) rs1382116568
NM_018127.7(ELAC2):c.660T>C (p.Asn220=)
NM_018127.7(ELAC2):c.660T>G (p.Asn220Lys)
NM_018127.7(ELAC2):c.665C>G (p.Pro222Arg) rs2143661121
NM_018127.7(ELAC2):c.667C>T (p.His223Tyr) rs1335862034
NM_018127.7(ELAC2):c.66A>G (p.Ile22Met) rs2041840491
NM_018127.7(ELAC2):c.679+11A>G rs937695443
NM_018127.7(ELAC2):c.679+14C>G
NM_018127.7(ELAC2):c.680-12G>C
NM_018127.7(ELAC2):c.680-14G>A
NM_018127.7(ELAC2):c.680-16G>C
NM_018127.7(ELAC2):c.684T>C (p.Val228=)
NM_018127.7(ELAC2):c.689A>G (p.Gln230Arg)
NM_018127.7(ELAC2):c.692G>A (p.Arg231Lys) rs1259675163
NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)
NM_018127.7(ELAC2):c.714C>G (p.Ser238=)
NM_018127.7(ELAC2):c.720C>T (p.Val240=)
NM_018127.7(ELAC2):c.738+12T>A
NM_018127.7(ELAC2):c.738+13T>C
NM_018127.7(ELAC2):c.738+14T>G
NM_018127.7(ELAC2):c.738+15C>G
NM_018127.7(ELAC2):c.739-13_739-9del
NM_018127.7(ELAC2):c.739-20C>G
NM_018127.7(ELAC2):c.744C>G (p.His248Gln)
NM_018127.7(ELAC2):c.752G>A (p.Arg251Lys) rs2041085908
NM_018127.7(ELAC2):c.75A>C (p.Ala25=)
NM_018127.7(ELAC2):c.766del (p.Val256fs) rs2041085400
NM_018127.7(ELAC2):c.792C>T (p.Leu264=)
NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala)
NM_018127.7(ELAC2):c.797+11G>C
NM_018127.7(ELAC2):c.797+14del rs748817791
NM_018127.7(ELAC2):c.797+16A>G rs895800256
NM_018127.7(ELAC2):c.797+1G>A
NM_018127.7(ELAC2):c.797+20C>T
NM_018127.7(ELAC2):c.797+8T>C
NM_018127.7(ELAC2):c.797+8T>G
NM_018127.7(ELAC2):c.797+8_797+9del
NM_018127.7(ELAC2):c.797+9G>A
NM_018127.7(ELAC2):c.797+9G>C rs762820869
NM_018127.7(ELAC2):c.798-19C>T
NM_018127.7(ELAC2):c.798-7A>G rs1598238892
NM_018127.7(ELAC2):c.801G>A (p.Gly267=) rs1598238838
NM_018127.7(ELAC2):c.814G>T (p.Ala272Ser) rs765353090
NM_018127.7(ELAC2):c.828T>C (p.Ala276=)
NM_018127.7(ELAC2):c.838G>A (p.Asp280Asn) rs953161128
NM_018127.7(ELAC2):c.83G>A (p.Arg28His) rs1192697057
NM_018127.7(ELAC2):c.840C>G (p.Asp280Glu) rs369092504
NM_018127.7(ELAC2):c.851_853del (p.Ile284del) rs2041067692
NM_018127.7(ELAC2):c.855T>C (p.Thr285=)
NM_018127.7(ELAC2):c.858T>C (p.His286=)
NM_018127.7(ELAC2):c.85_86delinsTT (p.Arg29Phe) rs2143697792
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)
NM_018127.7(ELAC2):c.871-10G>A
NM_018127.7(ELAC2):c.871-11del rs781302974
NM_018127.7(ELAC2):c.871-18G>A
NM_018127.7(ELAC2):c.871-9G>C rs750378111
NM_018127.7(ELAC2):c.87C>G (p.Arg29=)
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
NM_018127.7(ELAC2):c.897T>C (p.Pro299=)
NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly)
NM_018127.7(ELAC2):c.900A>G (p.Pro300=) rs1567758616
NM_018127.7(ELAC2):c.908G>T (p.Gly303Val) rs188256643
NM_018127.7(ELAC2):c.921G>C (p.Val307=)
NM_018127.7(ELAC2):c.924G>C (p.Val308=) rs2143621668
NM_018127.7(ELAC2):c.934C>T (p.Pro312Ser) rs912946000
NM_018127.7(ELAC2):c.949A>G (p.Ile317Val) rs2041026993
NM_018127.7(ELAC2):c.957C>T (p.Pro319=)
NM_018127.7(ELAC2):c.972C>T (p.Ala324=)
NM_018127.7(ELAC2):c.975C>G (p.Thr325=)
NM_018127.7(ELAC2):c.983+17A>G
NM_018127.7(ELAC2):c.983+19G>A
NM_018127.7(ELAC2):c.984-15C>T
NM_018127.7(ELAC2):c.984-2A>G
NM_018127.7(ELAC2):c.984-3del
NM_018127.7(ELAC2):c.984-4C>T rs1375270986
NM_018127.7(ELAC2):c.984-5C>T rs752324594
NM_018127.7(ELAC2):c.984-8C>A rs2143613374
NM_018127.7(ELAC2):c.996G>A (p.Lys332=)
NM_018127.7(ELAC2):c.997G>A (p.Ala333Thr) rs2143613231
NM_018127.7(ELAC2):c.998C>T (p.Ala333Val)
NM_018127.7(ELAC2):c.9G>T (p.Ala3=)

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