ClinVar Miner

List of variants in gene ELN reported as uncertain significance for aortic valve disorder

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 332
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
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.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
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.*95C>T rs181078432 0.00019
NM_000501.4(ELN):c.992C>T (p.Pro331Leu) rs138504338 0.00017
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 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.1339G>A (p.Ala447Thr) rs139335797 0.00013
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.1825C>T (p.Leu609Phe) rs200133966 0.00011
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 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.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.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.1315+1G>A rs782568267 0.00007
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076 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.1216G>A (p.Gly406Ser) rs782563418 0.00006
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 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.2032G>A (p.Gly678Ser) rs375579231 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.1358-186C>T rs782074494 0.00005
NM_000501.4(ELN):c.145G>A (p.Gly49Arg) rs144757453 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.1348G>A (p.Ala450Thr) rs782546858 0.00004
NM_000501.4(ELN):c.1859-15G>A rs369551022 0.00004
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg) rs34852121 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.478T>C (p.Phe160Leu) rs781857513 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.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.1435G>A (p.Val479Met) rs925528680 0.00003
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000501.4(ELN):c.2020G>A (p.Ala674Thr) rs782535492 0.00003
NM_000501.4(ELN):c.476G>A (p.Arg159Gln) rs369045063 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.133+6G>A rs1216357938 0.00002
NM_000501.4(ELN):c.1358-232G>C rs782246342 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.20C>T (p.Ala7Val) rs559210020 0.00002
NM_000501.4(ELN):c.2131+14C>T rs782790041 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.683A>G (p.Tyr228Cys) rs1471237206 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.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.119G>T (p.Gly40Val) rs55951999 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.133+5C>T rs375144839 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.1606G>T (p.Ala536Ser) rs374253638 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+81A>G rs782668288 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.1787G>A (p.Gly596Glu) rs1554685979 0.00001
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032 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.1966G>A (p.Gly656Arg) rs782783288 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.689A>T (p.Tyr230Phe) rs1411516655 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.898A>T (p.Thr300Ser) rs766735416 0.00001
NM_000501.4(ELN):c.901C>G (p.Pro301Ala) rs900409298 0.00001
NC_000007.13:g.(?_73442518)_(73475489_?)dup
NC_000007.13:g.(?_73442518)_(73483030_?)dup
NC_000007.13:g.(?_73477473)_(73478035_?)del
NC_000007.13:g.(?_73480004)_(73481126_?)del
NC_000007.14:g.74043883_74043897del
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.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.1054C>G (p.Pro352Ala)
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
NM_000501.4(ELN):c.1084G>C (p.Ala362Pro)
NM_000501.4(ELN):c.1088C>T (p.Ala363Val)
NM_000501.4(ELN):c.1096+12TG[15]
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[25]
NM_000501.4(ELN):c.1096+12TG[8] rs10579871
NM_000501.4(ELN):c.1132G>A (p.Ala378Thr)
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1192G>T (p.Gly398Trp) rs2229427
NM_000501.4(ELN):c.1205G>A (p.Gly402Glu)
NM_000501.4(ELN):c.1237G>A (p.Gly413Ser)
NM_000501.4(ELN):c.1238G>C (p.Gly413Ala)
NM_000501.4(ELN):c.1252G>C (p.Ala418Pro) rs142438174
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg) rs2071307
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)
NM_000501.4(ELN):c.1274G>A (p.Gly425Asp) rs1795231067
NM_000501.4(ELN):c.1283G>C (p.Gly428Ala) rs1795235239
NM_000501.4(ELN):c.1292G>T (p.Gly431Val)
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.1321G>A (p.Ala441Thr)
NM_000501.4(ELN):c.1324C>G (p.Gln442Glu)
NM_000501.4(ELN):c.133+10A>G
NM_000501.4(ELN):c.134-6C>G rs368904789
NM_000501.4(ELN):c.134G>C (p.Gly45Ala)
NM_000501.4(ELN):c.1356C>T (p.Tyr452=)
NM_000501.4(ELN):c.1357+1G>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.1358-241G>A rs1554680844
NM_000501.4(ELN):c.1358-244G>A
NM_000501.4(ELN):c.1358-261G>A
NM_000501.4(ELN):c.1358-30_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.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.140G>C (p.Gly47Ala) rs1554665826
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.1451G>A (p.Gly484Asp)
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.1469G>C (p.Gly490Ala) rs1554682884
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.1515_1550del (p.501VGVAPG[1]) rs782225994
NM_000501.4(ELN):c.1518_1535dup (p.Gly518_Ile519insValGlyValAlaProGly)
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.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+6T>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.163+3G>A
NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)
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.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3]) rs782739997
NM_000501.4(ELN):c.1702G>A (p.Val568Ile) rs1554683612
NM_000501.4(ELN):c.1723_1724delinsTG (p.Ala575Cys)
NM_000501.4(ELN):c.1727G>T (p.Gly576Val)
NM_000501.4(ELN):c.1745C>T (p.Ala582Val)
NM_000501.4(ELN):c.1747+104A>G
NM_000501.4(ELN):c.1747+105T>C rs536262259
NM_000501.4(ELN):c.1747+15G>C
NM_000501.4(ELN):c.1747+22G>A
NM_000501.4(ELN):c.1747+71C>A
NM_000501.4(ELN):c.1747+85C>T
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.1748-3C>T
NM_000501.4(ELN):c.176G>T (p.Gly59Val)
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile) rs782679448
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.1844C>T (p.Pro615Leu)
NM_000501.4(ELN):c.1858G>C (p.Gly620Arg) rs727503034
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.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.1909G>T (p.Ala637Ser) rs536177240
NM_000501.4(ELN):c.1921C>G (p.Leu641Val)
NM_000501.4(ELN):c.1941C>A (p.Leu647=) rs782117709
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.1956_1970del (p.648GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1957G>A (p.Gly653Arg)
NM_000501.4(ELN):c.196+5G>A
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
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.2014G>A (p.Ala672Thr)
NM_000501.4(ELN):c.2031C>T (p.Tyr677=)
NM_000501.4(ELN):c.2033G>A (p.Gly678Asp) rs371321792
NM_000501.4(ELN):c.205G>C (p.Gly69Arg)
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
NM_000501.4(ELN):c.2086+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.2109C>G (p.Phe703Leu) rs149755814
NM_000501.4(ELN):c.2114T>C (p.Leu705Ser)
NM_000501.4(ELN):c.2128C>G (p.Pro710Ala) rs368993919
NM_000501.4(ELN):c.2131+1G>A
NM_000501.4(ELN):c.2132-2A>G
NM_000501.4(ELN):c.215G>T (p.Gly72Val)
NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)
NM_000501.4(ELN):c.232G>A (p.Gly78Arg)
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.305C>G (p.Ala102Gly)
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.359G>T (p.Gly120Val) rs1554669689
NM_000501.4(ELN):c.376+4C>T
NM_000501.4(ELN):c.376+5G>A rs782770862
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+4A>G
NM_000501.4(ELN):c.446_457del (p.Val149_Gly152del) rs1227487686
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.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.53T>G (p.Leu18Arg)
NM_000501.4(ELN):c.548G>A (p.Gly183Asp)
NM_000501.4(ELN):c.559G>A (p.Ala187Thr)
NM_000501.4(ELN):c.581C>A (p.Pro194His)
NM_000501.4(ELN):c.590G>A (p.Gly197Glu) rs782698807
NM_000501.4(ELN):c.592C>T (p.Pro198Ser)
NM_000501.4(ELN):c.5C>T (p.Ala2Val)
NM_000501.4(ELN):c.602G>C (p.Gly201Ala) rs1792623793
NM_000501.4(ELN):c.61C>T (p.Leu21Phe)
NM_000501.4(ELN):c.635A>G (p.Lys212Arg)
NM_000501.4(ELN):c.644G>A (p.Gly215Asp)
NM_000501.4(ELN):c.671G>A (p.Gly224Glu)
NM_000501.4(ELN):c.677T>G (p.Leu226Arg)
NM_000501.4(ELN):c.691G>A (p.Gly231Arg)
NM_000501.4(ELN):c.717G>T (p.Ala239=) rs782502253
NM_000501.4(ELN):c.741G>T (p.Gly247=)
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.799+6T>A
NM_000501.4(ELN):c.79G>A (p.Gly27Arg)
NM_000501.4(ELN):c.809_817del (p.Ala270_Gly272del)
NM_000501.4(ELN):c.814G>A (p.Gly272Arg)
NM_000501.4(ELN):c.851G>A (p.Gly284Asp) rs1287098263
NM_000501.4(ELN):c.851G>C (p.Gly284Ala)
NM_000501.4(ELN):c.863C>T (p.Ala288Val)
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.906TGCAGC[1] (p.Ala308_Ala311del) rs782133793
NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
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.949+5G>A
NM_000501.4(ELN):c.949+6T>C rs1794154462

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