ClinVar Miner

List of variants in gene ELN studied for aortic valve disorder

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 771
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_000501.4(ELN):c.*501_*502insA rs34208922 0.30369
NM_000501.4(ELN):c.*1194A>G rs10233395 0.12697
NM_000501.4(ELN):c.2033-16A>G rs45618836 0.02805
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_000501.4(ELN):c.*383T>G rs184490734 0.00783
NM_000501.3(ELN):c.-38C>T rs41410045 0.00756
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_000501.4(ELN):c.*548G>A rs117454480 0.00696
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509 0.00505
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581 0.00472
NM_000501.4(ELN):c.*172G>A rs56120764 0.00427
NM_000501.4(ELN):c.*1195C>T rs115872030 0.00381
NM_000501.4(ELN):c.*429C>T rs62476387 0.00365
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788 0.00327
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala) rs144341345 0.00297
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_000501.4(ELN):c.1858+20G>A rs200965648 0.00270
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_000501.4(ELN):c.1358-253G>A rs370619098 0.00136
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_000501.4(ELN):c.469+14G>A rs41347751 0.00103
NM_000501.4(ELN):c.1358-268A>G rs374066807 0.00102
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170 0.00080
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000501.4(ELN):c.326-20C>T rs200397639 0.00066
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_000501.4(ELN):c.1621+12G>A rs200937895 0.00046
NM_000501.4(ELN):c.1697C>T (p.Ala566Val) rs138876104 0.00043
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139 0.00040
NM_000501.4(ELN):c.*238C>T rs546341976 0.00038
NM_000501.4(ELN):c.1358-225T>C rs375867140 0.00036
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814 0.00032
NM_000501.4(ELN):c.1884C>T (p.Ala628=) rs372315353 0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000501.4(ELN):c.*562A>C rs539096901 0.00029
NM_000501.4(ELN):c.1747+109A>G rs782414975 0.00029
NM_000501.4(ELN):c.1747+82C>A rs186744935 0.00029
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
NM_000501.4(ELN):c.1414+19C>T rs201440090 0.00025
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_000501.4(ELN):c.1358-234G>C rs1011146056 0.00022
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000501.4(ELN):c.1747+83C>T rs191593990 0.00021
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_000501.4(ELN):c.*95C>T rs181078432 0.00019
NM_000501.4(ELN):c.381G>A (p.Ala127=) rs148216123 0.00019
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
NM_000501.4(ELN):c.949+14G>A rs200929398 0.00019
NM_000501.4(ELN):c.1467C>T (p.Val489=) rs200512332 0.00017
NM_000501.4(ELN):c.1747+26C>T rs371491330 0.00017
NM_000501.4(ELN):c.992C>T (p.Pro331Leu) rs138504338 0.00017
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.1747+23G>A rs368791422 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_000501.4(ELN):c.*489G>T rs886062432 0.00014
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098 0.00014
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797 0.00013
NM_000501.4(ELN):c.1358-236G>A rs529133775 0.00013
NM_000501.4(ELN):c.196+18G>A rs374473857 0.00012
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.710G>C (p.Gly237Ala) rs934014841 0.00012
NM_000501.4(ELN):c.1357+9C>A rs372800803 0.00011
NM_000501.4(ELN):c.1358-209C>T rs569004868 0.00011
NM_000501.4(ELN):c.165G>A (p.Ala55=) rs376512299 0.00011
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe) rs200133966 0.00011
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_000501.4(ELN):c.717G>A (p.Ala239=) rs782502253 0.00011
NM_000501.4(ELN):c.*570G>A rs565400803 0.00010
NM_000501.4(ELN):c.1043G>A (p.Gly348Glu) rs186728715 0.00010
NM_000501.4(ELN):c.1149C>T (p.Tyr383=) rs199621188 0.00010
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817 0.00010
NM_000501.4(ELN):c.1414+20G>A rs200995478 0.00010
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_000501.4(ELN):c.*532C>T rs939778506 0.00009
NM_000501.4(ELN):c.*591C>T rs782460313 0.00009
NM_000501.4(ELN):c.1918+19T>G rs557259683 0.00009
NM_000501.4(ELN):c.554C>G (p.Ala185Gly) rs781956448 0.00009
NM_000501.4(ELN):c.*644G>A rs759507028 0.00008
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000501.4(ELN):c.2051G>A (p.Gly684Asp) rs150984896 0.00008
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344 0.00008
NM_000501.4(ELN):c.644-8C>T rs201859539 0.00008
NM_000501.4(ELN):c.1206G>T (p.Gly402=) rs552147776 0.00007
NM_000501.4(ELN):c.1315+1G>A rs782568267 0.00007
NM_000501.4(ELN):c.133+11T>C rs28763980 0.00007
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076 0.00007
NM_000501.4(ELN):c.240C>T (p.Gly80=) rs138649857 0.00007
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_000501.4(ELN):c.914C>T (p.Ala305Val) rs782396192 0.00007
NM_000501.4(ELN):c.*629T>C rs776424755 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000501.4(ELN):c.1216G>A (p.Gly406Ser) rs782563418 0.00006
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 0.00006
NM_000501.4(ELN):c.1322C>T (p.Ala441Val) rs200444292 0.00006
NM_000501.4(ELN):c.1358-192C>T rs185060213 0.00006
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000501.4(ELN):c.1590C>T (p.Ser530=) rs782526296 0.00006
NM_000501.4(ELN):c.1767C>T (p.Ala589=) rs117816525 0.00006
NM_000501.4(ELN):c.1875C>T (p.Ala625=) rs782752342 0.00006
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser) rs375579231 0.00006
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu) rs139547471 0.00006
NM_000501.4(ELN):c.483C>T (p.Pro161=) rs150690195 0.00006
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726 0.00006
NM_000501.4(ELN):c.773C>T (p.Ala258Val) rs531144748 0.00006
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529 0.00006
NM_000501.4(ELN):c.1358-186C>T rs782074494 0.00005
NM_000501.4(ELN):c.145G>A (p.Gly49Arg) rs144757453 0.00005
NM_000501.4(ELN):c.2032+19C>T rs782201561 0.00005
NM_000501.4(ELN):c.213G>A (p.Ala71=) rs202194806 0.00005
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255 0.00005
NM_000501.4(ELN):c.*664G>A rs952638605 0.00004
NM_000501.4(ELN):c.1063C>G (p.Pro355Ala) rs782505248 0.00004
NM_000501.4(ELN):c.1287C>T (p.Val429=) rs200666061 0.00004
NM_000501.4(ELN):c.1348G>A (p.Ala450Thr) rs782546858 0.00004
NM_000501.4(ELN):c.1358-185G>A rs782737850 0.00004
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494 0.00004
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415 0.00004
NM_000501.4(ELN):c.1674C>T (p.Gly558=) rs182784538 0.00004
NM_000501.4(ELN):c.1747+49G>C rs201047209 0.00004
NM_000501.4(ELN):c.1859-15G>A rs369551022 0.00004
NM_000501.4(ELN):c.1872C>T (p.Ala624=) rs781807182 0.00004
NM_000501.4(ELN):c.18G>A (p.Ala6=) rs542540015 0.00004
NM_000501.4(ELN):c.1932C>T (p.Ala644=) rs782238627 0.00004
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg) rs34852121 0.00004
NM_000501.4(ELN):c.2067C>T (p.Ala689=) rs782657493 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.2086+7G>T rs782306052 0.00004
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_000501.4(ELN):c.414T>C (p.Pro138=) rs782230185 0.00004
NM_000501.4(ELN):c.478T>C (p.Phe160Leu) rs781857513 0.00004
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839 0.00004
NM_000501.4(ELN):c.540A>C (p.Pro180=) rs145778002 0.00004
NM_000501.4(ELN):c.593C>T (p.Pro198Leu) rs146729533 0.00004
NM_000501.4(ELN):c.643+16G>A rs199662424 0.00004
NM_000501.4(ELN):c.696C>T (p.Pro232=) rs148054981 0.00004
NM_000501.4(ELN):c.799G>A (p.Gly267Ser) rs150092063 0.00004
NM_000501.4(ELN):c.853G>A (p.Val285Met) rs199709542 0.00004
NM_000501.4(ELN):c.92G>A (p.Gly31Glu) rs782625771 0.00004
NM_000501.4(ELN):c.*663C>T rs886062433 0.00003
NM_000501.4(ELN):c.*794C>T rs185988110 0.00003
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg) rs372889752 0.00003
NM_000501.4(ELN):c.1202C>T (p.Ala401Val) rs782493042 0.00003
NM_000501.4(ELN):c.134-4dup rs878854451 0.00003
NM_000501.4(ELN):c.134-6C>A rs368904789 0.00003
NM_000501.4(ELN):c.1358-230G>A rs550475158 0.00003
NM_000501.4(ELN):c.1404C>T (p.Ala468=) rs189952915 0.00003
NM_000501.4(ELN):c.1435G>A (p.Val479Met) rs925528680 0.00003
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000501.4(ELN):c.1994-13C>T rs532271061 0.00003
NM_000501.4(ELN):c.2020G>A (p.Ala674Thr) rs782535492 0.00003
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_000501.4(ELN):c.470-8C>G rs781877758 0.00003
NM_000501.4(ELN):c.476G>A (p.Arg159Gln) rs369045063 0.00003
NM_000501.4(ELN):c.799+10C>T rs781812932 0.00003
NM_000501.4(ELN):c.*251C>T rs886062430 0.00002
NM_000501.4(ELN):c.*631C>T rs1168466814 0.00002
NM_000501.4(ELN):c.*997G>T rs886062434 0.00002
NM_000501.4(ELN):c.1097-3C>T rs782265101 0.00002
NM_000501.4(ELN):c.1097-8C>G rs781785100 0.00002
NM_000501.4(ELN):c.113C>G (p.Pro38Arg) rs781951450 0.00002
NM_000501.4(ELN):c.1282G>A (p.Gly428Arg) rs200862792 0.00002
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg) rs374470120 0.00002
NM_000501.4(ELN):c.1299G>A (p.Pro433=) rs367742656 0.00002
NM_000501.4(ELN):c.133+6G>A rs1216357938 0.00002
NM_000501.4(ELN):c.1358-232G>C rs782246342 0.00002
NM_000501.4(ELN):c.1434C>T (p.Gly478=) rs781926084 0.00002
NM_000501.4(ELN):c.1622-14C>T rs782637446 0.00002
NM_000501.4(ELN):c.164C>T (p.Ala55Val) rs1411248717 0.00002
NM_000501.4(ELN):c.1747+21C>T rs782679593 0.00002
NM_000501.4(ELN):c.1950C>T (p.Leu650=) rs373342218 0.00002
NM_000501.4(ELN):c.196+13G>C rs370961040 0.00002
NM_000501.4(ELN):c.20C>T (p.Ala7Val) rs559210020 0.00002
NM_000501.4(ELN):c.2131+14C>T rs782790041 0.00002
NM_000501.4(ELN):c.2132-6G>A rs781831349 0.00002
NM_000501.4(ELN):c.295G>A (p.Ala99Thr) rs782660886 0.00002
NM_000501.4(ELN):c.367G>A (p.Val123Met) rs1480312927 0.00002
NM_000501.4(ELN):c.377-5G>A rs571360232 0.00002
NM_000501.4(ELN):c.549T>G (p.Gly183=) rs782332803 0.00002
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys) rs1471237206 0.00002
NM_000501.4(ELN):c.686-17G>A rs149812011 0.00002
NM_000501.4(ELN):c.800-12C>G rs370561295 0.00002
NM_000501.4(ELN):c.8G>A (p.Gly3Asp) rs1198683869 0.00002
NM_000501.4(ELN):c.1009C>T (p.Pro337Ser) rs1340826777 0.00001
NM_000501.4(ELN):c.1027G>C (p.Gly343Arg) rs781939749 0.00001
NM_000501.4(ELN):c.1050G>C (p.Gly350=) rs782727999 0.00001
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123 0.00001
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.1191C>T (p.Tyr397=) rs782798160 0.00001
NM_000501.4(ELN):c.119G>T (p.Gly40Val) rs55951999 0.00001
NM_000501.4(ELN):c.1233C>T (p.Val411=) rs202052596 0.00001
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267 0.00001
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg) rs782630866 0.00001
NM_000501.4(ELN):c.1316-12G>A rs782357759 0.00001
NM_000501.4(ELN):c.1316-18T>C rs782574590 0.00001
NM_000501.4(ELN):c.133+20C>T rs782637996 0.00001
NM_000501.4(ELN):c.133+5C>T rs375144839 0.00001
NM_000501.4(ELN):c.134-10C>G rs782069123 0.00001
NM_000501.4(ELN):c.134-14C>T rs782028490 0.00001
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.1358-235G>A rs1293346828 0.00001
NM_000501.4(ELN):c.1366A>G (p.Thr456Ala) rs370603113 0.00001
NM_000501.4(ELN):c.1463G>A (p.Gly488Asp) rs1383828155 0.00001
NM_000501.4(ELN):c.1470T>C (p.Gly490=) rs576324025 0.00001
NM_000501.4(ELN):c.1506C>T (p.Gly502=) rs533649697 0.00001
NM_000501.4(ELN):c.1577-2A>T rs1230920104 0.00001
NM_000501.4(ELN):c.1577-4T>C rs1554683264 0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000501.4(ELN):c.1622-6C>T rs1280128851 0.00001
NM_000501.4(ELN):c.163+13A>G rs782388951 0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp) rs150248865 0.00001
NM_000501.4(ELN):c.1747+14A>G rs1438687754 0.00001
NM_000501.4(ELN):c.1747+80C>T rs369548102 0.00001
NM_000501.4(ELN):c.1747+81A>G rs782668288 0.00001
NM_000501.4(ELN):c.1747+92A>C rs782216165 0.00001
NM_000501.4(ELN):c.1768G>A (p.Ala590Thr) rs868932429 0.00001
NM_000501.4(ELN):c.1785T>C (p.Tyr595=) rs727503033 0.00001
NM_000501.4(ELN):c.1787-8C>G rs782713818 0.00001
NM_000501.4(ELN):c.1787G>A (p.Gly596Glu) rs1554685979 0.00001
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032 0.00001
NM_000501.4(ELN):c.1869C>T (p.Pro623=) rs530876235 0.00001
NM_000501.4(ELN):c.1876G>A (p.Ala626Thr) rs781861907 0.00001
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr) rs552662894 0.00001
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser) rs782280724 0.00001
NM_000501.4(ELN):c.1956C>T (p.Val652=) rs1469217967 0.00001
NM_000501.4(ELN):c.1966G>A (p.Gly656Arg) rs782783288 0.00001
NM_000501.4(ELN):c.1994-2A>C rs1440841207 0.00001
NM_000501.4(ELN):c.2032+1G>A rs781859711 0.00001
NM_000501.4(ELN):c.2086+8del rs782078342 0.00001
NM_000501.4(ELN):c.233-4G>A rs782410717 0.00001
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052 0.00001
NM_000501.4(ELN):c.443G>A (p.Gly148Asp) rs781952083 0.00001
NM_000501.4(ELN):c.482C>G (p.Pro161Arg) rs1792196459 0.00001
NM_000501.4(ELN):c.686-2A>G rs782390271 0.00001
NM_000501.4(ELN):c.689A>T (p.Tyr230Phe) rs1411516655 0.00001
NM_000501.4(ELN):c.6G>A (p.Ala2=) rs782540463 0.00001
NM_000501.4(ELN):c.767C>T (p.Ala256Val) rs782285456 0.00001
NM_000501.4(ELN):c.798C>T (p.Phe266=) rs552274876 0.00001
NM_000501.4(ELN):c.84G>A (p.Gly28=) rs782193520 0.00001
NM_000501.4(ELN):c.870T>C (p.Pro290=) rs1794105324 0.00001
NM_000501.4(ELN):c.885C>T (p.Ile295=) rs782196025 0.00001
NM_000501.4(ELN):c.898A>T (p.Thr300Ser) rs766735416 0.00001
NM_000501.4(ELN):c.901C>G (p.Pro301Ala) rs900409298 0.00001
ELN, 100-KB DEL
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73442518)_(73449764_?)del
NC_000007.13:g.(?_73442518)_(73475489_?)dup
NC_000007.13:g.(?_73442518)_(73483030_?)del
NC_000007.13:g.(?_73442518)_(73483030_?)dup
NC_000007.13:g.(?_73461985)_(73483030_?)del
NC_000007.13:g.(?_73471702)_(73483040_?)del
NC_000007.13:g.(?_73477473)_(73478035_?)del
NC_000007.13:g.(?_73480004)_(73481126_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NC_000007.14:g.74043883_74043897del
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.2(ELN):c.1153delG rs727503031
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.*102C>T rs1464325009
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*171C>T rs781941957
NM_000501.4(ELN):c.*264C>A rs1309771565
NM_000501.4(ELN):c.*358C>T rs1489252176
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*578T>C rs1798608245
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1020C>T (p.Gly340=) rs782012004
NM_000501.4(ELN):c.1021G>T (p.Val341Phe) rs190758549
NM_000501.4(ELN):c.1024C>G (p.Pro342Ala)
NM_000501.4(ELN):c.1027G>A (p.Gly343Ser) rs781939749
NM_000501.4(ELN):c.1028G>A (p.Gly343Asp)
NM_000501.4(ELN):c.1033G>A (p.Gly345Ser) rs2131923109
NM_000501.4(ELN):c.1034_1087dup (p.Ala362_Ala363insGlyValProGlyAlaGlyIleProValValProGlyAlaGlyIleProGlyAla)
NM_000501.4(ELN):c.1036G>A (p.Val346Ile)
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1041A>T (p.Pro347=)
NM_000501.4(ELN):c.1054C>G (p.Pro352Ala)
NM_000501.4(ELN):c.1069_1091del (p.Ala357fs)
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs) rs2131925210
NM_000501.4(ELN):c.1084G>C (p.Ala362Pro)
NM_000501.4(ELN):c.1086T>C (p.Ala362=)
NM_000501.4(ELN):c.1088C>T (p.Ala363Val)
NM_000501.4(ELN):c.1096+12TG[15]
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[17] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1096+12TG[23]
NM_000501.4(ELN):c.1096+12TG[24] rs10579871
NM_000501.4(ELN):c.1096+12TG[25]
NM_000501.4(ELN):c.1096+12TG[8] rs10579871
NM_000501.4(ELN):c.1096+9G>C rs1554677524
NM_000501.4(ELN):c.1097-1G>A rs727503029
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1111del (p.Glu371fs)
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
NM_000501.4(ELN):c.1132G>A (p.Ala378Thr)
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.114T>C (p.Pro38=) rs782104032
NM_000501.4(ELN):c.1150+17C>G
NM_000501.4(ELN):c.1167C>T (p.Val389=)
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter) rs372889752
NM_000501.4(ELN):c.1170A>G (p.Gly390=) rs1060504936
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.117A>T (p.Gly39=)
NM_000501.4(ELN):c.1185T>G (p.Pro395=)
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter) rs1795205877
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer) rs2132059492
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
NM_000501.4(ELN):c.1192G>T (p.Gly398Trp) rs2229427
NM_000501.4(ELN):c.1194G>A (p.Gly398=)
NM_000501.4(ELN):c.1205G>A (p.Gly402Glu)
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1215C>T (p.Pro405=)
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
NM_000501.4(ELN):c.1227C>A (p.Val409=)
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1237G>A (p.Gly413Ser)
NM_000501.4(ELN):c.1238G>C (p.Gly413Ala)
NM_000501.4(ELN):c.1245dup (p.Gly416fs) rs1795220933
NM_000501.4(ELN):c.1251C>T (p.Val417=) rs782315685
NM_000501.4(ELN):c.1252G>C (p.Ala418Pro) rs142438174
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg) rs2071307
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)
NM_000501.4(ELN):c.1274G>A (p.Gly425Asp) rs1795231067
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter) rs200862792
NM_000501.4(ELN):c.1283G>C (p.Gly428Ala) rs1795235239
NM_000501.4(ELN):c.1292G>T (p.Gly431Val)
NM_000501.4(ELN):c.1292del (p.Gly431fs)
NM_000501.4(ELN):c.1298C>T (p.Pro433Leu)
NM_000501.4(ELN):c.1303G>A (p.Val435Ile)
NM_000501.4(ELN):c.1315+17_1315+18delinsTT
NM_000501.4(ELN):c.1315C>T (p.Pro439Ser)
NM_000501.4(ELN):c.1316-13C>T
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
NM_000501.4(ELN):c.1321G>A (p.Ala441Thr)
NM_000501.4(ELN):c.1324C>G (p.Gln442Glu)
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.133+10A>G
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.133+16C>T rs144223231
NM_000501.4(ELN):c.134-19T>C rs535249280
NM_000501.4(ELN):c.134-5C>A rs202142516
NM_000501.4(ELN):c.134-5C>G rs202142516
NM_000501.4(ELN):c.134-5C>T
NM_000501.4(ELN):c.134-5dup
NM_000501.4(ELN):c.134-6C>G rs368904789
NM_000501.4(ELN):c.134-7C>A rs782721415
NM_000501.4(ELN):c.134-7C>T
NM_000501.4(ELN):c.134G>C (p.Gly45Ala)
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter) rs2132079396
NM_000501.4(ELN):c.1356C>T (p.Tyr452=)
NM_000501.4(ELN):c.1357+1G>A
NM_000501.4(ELN):c.1358-18T>A
NM_000501.4(ELN):c.1358-191G>A
NM_000501.4(ELN):c.1358-196G>A
NM_000501.4(ELN):c.1358-208G>A
NM_000501.4(ELN):c.1358-216C>A
NM_000501.4(ELN):c.1358-218T>G
NM_000501.4(ELN):c.1358-241G>A rs1554680844
NM_000501.4(ELN):c.1358-244G>A
NM_000501.4(ELN):c.1358-261G>A
NM_000501.4(ELN):c.1358-262C>T
NM_000501.4(ELN):c.1358-276A>G
NM_000501.4(ELN):c.1358-30_1358-19del
NM_000501.4(ELN):c.1372G>A (p.Ala458Thr)
NM_000501.4(ELN):c.1373C>T (p.Ala458Val) rs149117932
NM_000501.4(ELN):c.1378G>A (p.Ala460Thr)
NM_000501.4(ELN):c.1383_1394del (p.462AKAA[1])
NM_000501.4(ELN):c.1385C>A (p.Ala462Asp)
NM_000501.4(ELN):c.138T>C (p.Ala46=)
NM_000501.4(ELN):c.1393dup (p.Ala465fs) rs2132135741
NM_000501.4(ELN):c.1395C>T (p.Ala465=)
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
NM_000501.4(ELN):c.1396_1407dup (p.Ala469_Gln470insAlaLysAlaAla)
NM_000501.4(ELN):c.1399A>G (p.Lys467Glu) rs1583924554
NM_000501.4(ELN):c.1402G>A (p.Ala468Thr)
NM_000501.4(ELN):c.1405G>A (p.Ala469Thr)
NM_000501.4(ELN):c.1407C>A (p.Ala469=)
NM_000501.4(ELN):c.140G>C (p.Gly47Ala) rs1554665826
NM_000501.4(ELN):c.1414+11C>T
NM_000501.4(ELN):c.1414+11dup rs782491657
NM_000501.4(ELN):c.1414+16C>T
NM_000501.4(ELN):c.1414+1G>C
NM_000501.4(ELN):c.1414+20G>T
NM_000501.4(ELN):c.1414+9C>T
NM_000501.4(ELN):c.1415-16C>T
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.1432G>A (p.Gly478Ser)
NM_000501.4(ELN):c.1434_1469del (p.479VAPGVG[1])
NM_000501.4(ELN):c.1446_1463del (p.479VAPGVG[2]) rs1563852008
NM_000501.4(ELN):c.144C>T (p.Leu48=)
NM_000501.4(ELN):c.1451G>A (p.Gly484Asp)
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs) rs2132288547
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1]) rs782202364
NM_000501.4(ELN):c.1459C>A (p.Pro487Thr)
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del) rs1563852165
NM_000501.4(ELN):c.1469G>C (p.Gly490Ala) rs1554682884
NM_000501.4(ELN):c.1482del (p.Val495fs) rs1583959262
NM_000501.4(ELN):c.1484T>C (p.Val495Ala)
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del) rs782284755
NM_000501.4(ELN):c.14C>G (p.Thr5Arg)
NM_000501.4(ELN):c.1507G>T (p.Val503Leu) rs41523046
NM_000501.4(ELN):c.1509G>T (p.Val503=)
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1]) rs782225994
NM_000501.4(ELN):c.1518_1535dup (p.Gly518_Ile519insValGlyValAlaProGly)
NM_000501.4(ELN):c.1524T>C (p.Gly508=)
NM_000501.4(ELN):c.1528G>T (p.Ala510Ser)
NM_000501.4(ELN):c.152T>C (p.Leu51Pro)
NM_000501.4(ELN):c.1532C>T (p.Pro511Leu)
NM_000501.4(ELN):c.1536C>T (p.Gly512=)
NM_000501.4(ELN):c.1539del (p.Gly514fs)
NM_000501.4(ELN):c.1542C>T (p.Gly514=)
NM_000501.4(ELN):c.1559G>A (p.Gly520Asp)
NM_000501.4(ELN):c.155G>A (p.Gly52Glu)
NM_000501.4(ELN):c.1564G>C (p.Gly522Arg)
NM_000501.4(ELN):c.1573G>A (p.Ala525Thr)
NM_000501.4(ELN):c.1576+10A>G
NM_000501.4(ELN):c.1576+1G>A rs782674700
NM_000501.4(ELN):c.1576+2T>A
NM_000501.4(ELN):c.1576+6T>G
NM_000501.4(ELN):c.1576+8T>C
NM_000501.4(ELN):c.1577-9C>G
NM_000501.4(ELN):c.158G>A (p.Gly53Glu)
NM_000501.4(ELN):c.1591G>A (p.Ala531Thr) rs137987089
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.15G>A (p.Thr5=)
NM_000501.4(ELN):c.1621+11C>T
NM_000501.4(ELN):c.1621+1G>A rs782279081
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.163+2T>A
NM_000501.4(ELN):c.163+2T>C rs1584494326
NM_000501.4(ELN):c.163+3G>A
NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
NM_000501.4(ELN):c.1668T>C (p.Gly556=)
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000501.4(ELN):c.1670_1696del (p.Val557_Gly565del)
NM_000501.4(ELN):c.1670_1696dup (p.Gly565_Ala566insValGlyValProGlyLeuGlyValGly)
NM_000501.4(ELN):c.1679del (p.Pro560fs) rs2132320442
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1]) rs782739997
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3]) rs782739997
NM_000501.4(ELN):c.1702G>A (p.Val568Ile) rs1554683612
NM_000501.4(ELN):c.1706del (p.Pro569fs)
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1723_1724delinsTG (p.Ala575Cys)
NM_000501.4(ELN):c.1727G>T (p.Gly576Val)
NM_000501.4(ELN):c.1728dup (p.Val577fs) rs2132322943
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1737del (p.Phe580fs)
NM_000501.4(ELN):c.1740C>T (p.Phe580=)
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1745C>T (p.Ala582Val)
NM_000501.4(ELN):c.1747+100G>C
NM_000501.4(ELN):c.1747+104A>G
NM_000501.4(ELN):c.1747+105T>C rs536262259
NM_000501.4(ELN):c.1747+105T>G rs536262259
NM_000501.4(ELN):c.1747+107G>C
NM_000501.4(ELN):c.1747+15G>C
NM_000501.4(ELN):c.1747+22G>A
NM_000501.4(ELN):c.1747+32C>T
NM_000501.4(ELN):c.1747+56C>T
NM_000501.4(ELN):c.1747+71C>A
NM_000501.4(ELN):c.1747+85C>T
NM_000501.4(ELN):c.1747+86C>T
NM_000501.4(ELN):c.1747+89A>G
NM_000501.4(ELN):c.1747+93C>T
NM_000501.4(ELN):c.1747+98G>A rs2132332281
NM_000501.4(ELN):c.1748-18A>G
NM_000501.4(ELN):c.1748-20C>T
NM_000501.4(ELN):c.1748-3C>T
NM_000501.4(ELN):c.1748del (p.Val583fs)
NM_000501.4(ELN):c.1758C>T (p.Ala586=)
NM_000501.4(ELN):c.176G>T (p.Gly59Val)
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile) rs782679448
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1787-11T>A rs782431386
NM_000501.4(ELN):c.1787-4G>A
NM_000501.4(ELN):c.1787-6C>T
NM_000501.4(ELN):c.1803G>T (p.Gly601=)
NM_000501.4(ELN):c.1806C>G (p.Val602=)
NM_000501.4(ELN):c.1817del (p.Leu606fs) rs1797063858
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.1827C>T (p.Leu609=)
NM_000501.4(ELN):c.1844C>T (p.Pro615Leu)
NM_000501.4(ELN):c.1848C>T (p.Gly616=)
NM_000501.4(ELN):c.1858+16A>G
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.1858G>C (p.Gly620Arg) rs727503034
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.1859-7T>C
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
NM_000501.4(ELN):c.1870G>A (p.Ala624Thr)
NM_000501.4(ELN):c.1878_1879insAAAGCTTTG (p.Ala626_Ala627insLysAlaLeu) rs1563868747
NM_000501.4(ELN):c.1881T>A (p.Ala627=)
NM_000501.4(ELN):c.1884_1886del (p.Ala630del)
NM_000501.4(ELN):c.1885_1902dup (p.Ala629_Ala634dup) rs1337161292
NM_000501.4(ELN):c.1891A>G (p.Lys631Glu)
NM_000501.4(ELN):c.1894G>T (p.Ala632Ser)
NM_000501.4(ELN):c.18G>C (p.Ala6=)
NM_000501.4(ELN):c.1909G>T (p.Ala637Ser) rs536177240
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.1919-1G>A rs1797218441
NM_000501.4(ELN):c.1921C>G (p.Leu641Val)
NM_000501.4(ELN):c.192G>A (p.Lys64=)
NM_000501.4(ELN):c.192del (p.Lys64fs)
NM_000501.4(ELN):c.1941C>A (p.Leu647=) rs782117709
NM_000501.4(ELN):c.1941C>T (p.Leu647=)
NM_000501.4(ELN):c.1946G>A (p.Gly649Glu) rs200041224
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala) rs200041224
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3]) rs374813147
NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1957G>A (p.Gly653Arg)
NM_000501.4(ELN):c.196+10A>C
NM_000501.4(ELN):c.196+17C>G
NM_000501.4(ELN):c.196+17C>T
NM_000501.4(ELN):c.196+5G>A
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
NM_000501.4(ELN):c.197-9T>C
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.197T>C (p.Val66Ala)
NM_000501.4(ELN):c.1985G>C (p.Gly662Ala)
NM_000501.4(ELN):c.1993+4A>G rs781872334
NM_000501.4(ELN):c.1993+7G>C
NM_000501.4(ELN):c.1994-18T>C
NM_000501.4(ELN):c.1994-6C>T
NM_000501.4(ELN):c.1A>G (p.Met1Val)
NM_000501.4(ELN):c.2014G>A (p.Ala672Thr)
NM_000501.4(ELN):c.2031C>T (p.Tyr677=)
NM_000501.4(ELN):c.2033-11C>T
NM_000501.4(ELN):c.2033-1G>C
NM_000501.4(ELN):c.2033G>A (p.Gly678Asp) rs371321792
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.205G>C (p.Gly69Arg)
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
NM_000501.4(ELN):c.207G>T (p.Gly69=)
NM_000501.4(ELN):c.2086+12C>A rs2132668936
NM_000501.4(ELN):c.2086+13A>G
NM_000501.4(ELN):c.2086+15C>T
NM_000501.4(ELN):c.2086+4G>A
NM_000501.4(ELN):c.2087-4G>A
NM_000501.4(ELN):c.2089G>A (p.Val697Met)
NM_000501.4(ELN):c.208C>T (p.Leu70Phe)
NM_000501.4(ELN):c.2104G>C (p.Gly702Arg)
NM_000501.4(ELN):c.2106C>A (p.Gly702=)
NM_000501.4(ELN):c.2109C>G (p.Phe703Leu) rs149755814
NM_000501.4(ELN):c.2114T>C (p.Leu705Ser)
NM_000501.4(ELN):c.2124T>C (p.Ile708=)
NM_000501.4(ELN):c.2128C>G (p.Pro710Ala) rs368993919
NM_000501.4(ELN):c.2131+10G>A
NM_000501.4(ELN):c.2131+1G>A
NM_000501.4(ELN):c.2132-2A>G
NM_000501.4(ELN):c.2148G>C (p.Gly716=) rs782642175
NM_000501.4(ELN):c.2151del (p.Ala718fs) rs2132828209
NM_000501.4(ELN):c.2154T>C (p.Ala718=)
NM_000501.4(ELN):c.215G>T (p.Gly72Val)
NM_000501.4(ELN):c.2161C>A (p.Arg721=)
NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)
NM_000501.4(ELN):c.232+14C>G
NM_000501.4(ELN):c.232G>A (p.Gly78Arg)
NM_000501.4(ELN):c.233-9C>T
NM_000501.4(ELN):c.238G>A (p.Gly80Ser)
NM_000501.4(ELN):c.250G>A (p.Ala84Thr)
NM_000501.4(ELN):c.250G>T (p.Ala84Ser)
NM_000501.4(ELN):c.263C>T (p.Pro88Leu)
NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
NM_000501.4(ELN):c.278del (p.Pro93fs) rs1791508570
NM_000501.4(ELN):c.294C>T (p.Asp98=)
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.305C>G (p.Ala102Gly)
NM_000501.4(ELN):c.326-16T>C
NM_000501.4(ELN):c.326-1G>T
NM_000501.4(ELN):c.327C>T (p.Gly109=)
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.328G>T (p.Ala110Ser) rs137953195
NM_000501.4(ELN):c.334C>T (p.Leu112Phe)
NM_000501.4(ELN):c.338G>A (p.Gly113Asp) rs531401757
NM_000501.4(ELN):c.33C>T (p.Pro11=)
NM_000501.4(ELN):c.348del (p.Gly117fs) rs2131453910
NM_000501.4(ELN):c.359G>T (p.Gly120Val) rs1554669689
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
NM_000501.4(ELN):c.369G>A (p.Val123=)
NM_000501.4(ELN):c.376+18G>A
NM_000501.4(ELN):c.376+4C>T
NM_000501.4(ELN):c.376+5G>A rs782770862
NM_000501.4(ELN):c.377-14C>T
NM_000501.4(ELN):c.377-16G>A
NM_000501.4(ELN):c.377-1G>T rs1554669774
NM_000501.4(ELN):c.377-2A>G
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.384G>T (p.Val128=)
NM_000501.4(ELN):c.391C>T (p.Gln131Ter) rs1791626037
NM_000501.4(ELN):c.402C>T (p.Ala134=)
NM_000501.4(ELN):c.414dup (p.Gly139fs) rs1791633917
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.425C>A (p.Pro142Gln) rs1013508230
NM_000501.4(ELN):c.426G>A (p.Pro142=)
NM_000501.4(ELN):c.427+11A>G
NM_000501.4(ELN):c.427+4A>G
NM_000501.4(ELN):c.427+8C>A
NM_000501.4(ELN):c.428-10T>C
NM_000501.4(ELN):c.429T>C (p.Gly143=)
NM_000501.4(ELN):c.435G>T (p.Gly145=)
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
NM_000501.4(ELN):c.441A>C (p.Pro147=)
NM_000501.4(ELN):c.446_457del (p.Val149_Gly152del) rs1227487686
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.45G>A (p.Leu15=) rs1787872217
NM_000501.4(ELN):c.469+3G>A
NM_000501.4(ELN):c.469+5G>C rs727503025
NM_000501.4(ELN):c.469G>C (p.Gly157Arg) rs1791850438
NM_000501.4(ELN):c.470-10C>T rs200663056
NM_000501.4(ELN):c.470-37_470del rs1563793627
NM_000501.4(ELN):c.470-6C>T
NM_000501.4(ELN):c.482C>T (p.Pro161Leu)
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195
NM_000501.4(ELN):c.484G>A (p.Gly162Ser)
NM_000501.4(ELN):c.48C>G (p.Leu16=)
NM_000501.4(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.4(ELN):c.53T>G (p.Leu18Arg)
NM_000501.4(ELN):c.541+14T>C
NM_000501.4(ELN):c.542-10A>G
NM_000501.4(ELN):c.542-1G>C
NM_000501.4(ELN):c.542-2A>T rs782528759
NM_000501.4(ELN):c.548G>A (p.Gly183Asp)
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
NM_000501.4(ELN):c.559G>A (p.Ala187Thr)
NM_000501.4(ELN):c.572-19G>A
NM_000501.4(ELN):c.581C>A (p.Pro194His)
NM_000501.4(ELN):c.582del (p.Phe195fs) rs2131603022
NM_000501.4(ELN):c.585T>C (p.Phe195=)
NM_000501.4(ELN):c.590G>A (p.Gly197Glu) rs782698807
NM_000501.4(ELN):c.592C>T (p.Pro198Ser)
NM_000501.4(ELN):c.594G>A (p.Pro198=) rs140337204
NM_000501.4(ELN):c.594G>T (p.Pro198=) rs140337204
NM_000501.4(ELN):c.59del (p.Ile20fs)
NM_000501.4(ELN):c.5C>T (p.Ala2Val)
NM_000501.4(ELN):c.602G>C (p.Gly201Ala) rs1792623793
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
NM_000501.4(ELN):c.609del (p.Leu204fs)
NM_000501.4(ELN):c.611del (p.Leu204fs)
NM_000501.4(ELN):c.61C>T (p.Leu21Phe)
NM_000501.4(ELN):c.634A>T (p.Lys212Ter) rs1554672587
NM_000501.4(ELN):c.635A>G (p.Lys212Arg)
NM_000501.4(ELN):c.643+15C>T
NM_000501.4(ELN):c.643+1G>C rs1131691482
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.644-13G>T rs2131638108
NM_000501.4(ELN):c.644-17CT[4]
NM_000501.4(ELN):c.644-6C>T
NM_000501.4(ELN):c.644G>A (p.Gly215Asp)
NM_000501.4(ELN):c.65_69dup (p.Ser24fs) rs1787875866
NM_000501.4(ELN):c.660del (p.Tyr221fs)
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
NM_000501.4(ELN):c.671G>A (p.Gly224Glu)
NM_000501.4(ELN):c.677T>G (p.Leu226Arg)
NM_000501.4(ELN):c.685+11C>A
NM_000501.4(ELN):c.685+18A>G
NM_000501.4(ELN):c.686-18A>G
NM_000501.4(ELN):c.686-1G>A rs1583818183
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.691G>A (p.Gly231Arg)
NM_000501.4(ELN):c.69C>T (p.Pro23=)
NM_000501.4(ELN):c.69del (p.Ser24fs)
NM_000501.4(ELN):c.6G>C (p.Ala2=)
NM_000501.4(ELN):c.705G>A (p.Val235=)
NM_000501.4(ELN):c.717G>T (p.Ala239=) rs782502253
NM_000501.4(ELN):c.726T>C (p.Ala242=)
NM_000501.4(ELN):c.741G>T (p.Gly247=)
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_000501.4(ELN):c.745+16C>T
NM_000501.4(ELN):c.746-2A>T
NM_000501.4(ELN):c.746-7C>T
NM_000501.4(ELN):c.74G>A (p.Arg25Gln)
NM_000501.4(ELN):c.762AGC[3] (p.Ala260del)
NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup) rs782185396
NM_000501.4(ELN):c.763G>A (p.Ala255Thr)
NM_000501.4(ELN):c.775del (p.Ala259fs)
NM_000501.4(ELN):c.786A>T (p.Ala262=) rs782342976
NM_000501.4(ELN):c.786del (p.Ala263fs)
NM_000501.4(ELN):c.799+6T>A
NM_000501.4(ELN):c.79G>A (p.Gly27Arg)
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.809_817del (p.Ala270_Gly272del)
NM_000501.4(ELN):c.813C>T (p.Ala271=)
NM_000501.4(ELN):c.814G>A (p.Gly272Arg)
NM_000501.4(ELN):c.82+13C>T
NM_000501.4(ELN):c.82+14G>A
NM_000501.4(ELN):c.82+1G>A rs2130830261
NM_000501.4(ELN):c.82+1G>C rs2130830261
NM_000501.4(ELN):c.83-18C>T
NM_000501.4(ELN):c.83-20C>T
NM_000501.4(ELN):c.840_843dup (p.Val282fs) rs1794096639
NM_000501.4(ELN):c.851G>A (p.Gly284Asp) rs1287098263
NM_000501.4(ELN):c.851G>C (p.Gly284Ala)
NM_000501.4(ELN):c.858T>A (p.Pro286=)
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.863C>T (p.Ala288Val)
NM_000501.4(ELN):c.869del (p.Pro290fs) rs1794104889
NM_000501.4(ELN):c.87C>T (p.Val29=)
NM_000501.4(ELN):c.885del (p.Ile295fs) rs1794108907
NM_000501.4(ELN):c.889+16G>A
NM_000501.4(ELN):c.889+1G>C rs782238674
NM_000501.4(ELN):c.889+20G>T
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.889+6A>G
NM_000501.4(ELN):c.889G>A (p.Gly297Ser)
NM_000501.4(ELN):c.889G>T (p.Gly297Cys)
NM_000501.4(ELN):c.890-14G>A
NM_000501.4(ELN):c.890-1G>A rs1794129841
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000501.4(ELN):c.891C>T (p.Gly297=)
NM_000501.4(ELN):c.8del (p.Gly3fs) rs2130826217
NM_000501.4(ELN):c.906TGCAGC[1] (p.Ala308_Ala311del) rs782133793
NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
NM_000501.4(ELN):c.909_916del (p.Ala304fs) rs2131856285
NM_000501.4(ELN):c.911C>G (p.Ala304Gly)
NM_000501.4(ELN):c.913G>A (p.Ala305Thr) rs1060503513
NM_000501.4(ELN):c.917C>T (p.Ala306Val)
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_000501.4(ELN):c.930C>G (p.Ala310=)
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter) rs2131858633
NM_000501.4(ELN):c.949+11C>T
NM_000501.4(ELN):c.949+13C>G
NM_000501.4(ELN):c.949+5G>A
NM_000501.4(ELN):c.949+6T>C rs1794154462
NM_000501.4(ELN):c.949+8_949+19del
NM_000501.4(ELN):c.949+9C>T
NM_000501.4(ELN):c.94del (p.Ala32fs)
NM_000501.4(ELN):c.96del (p.Ile33fs) rs2131151265
NM_000501.4(ELN):c.993G>A (p.Pro331=) rs371757750
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]
NM_001278939.1(ELN):c.748del rs1793092853

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.