ClinVar Miner

List of variants in gene EGLN1 studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_022051.2(EGLN1):c.-2586T>C rs2153364 0.18403
NM_022051.2(EGLN1):c.-1592T>C rs12406290 0.18375
NM_022051.2(EGLN1):c.-2592T>G rs1361383 0.16943
NM_022051.2(EGLN1):c.-2599T>C rs1361384 0.16701
NM_022051.2(EGLN1):c.-2923C>T rs1339894 0.16688
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser) rs12097901 0.15191
NM_022051.2(EGLN1):c.-1706T>C rs7544596 0.12544
NM_022051.3(EGLN1):c.*1880A>T rs13239 0.03362
NM_022051.3(EGLN1):c.*989T>C rs7550833 0.03358
NM_022051.2(EGLN1):c.-2448A>C rs114449367 0.02248
NM_022051.2(EGLN1):c.-544C>T rs188879504 0.02224
NM_022051.2(EGLN1):c.-536C>T rs184124593 0.02173
NM_022051.3(EGLN1):c.471G>C (p.Gln157His) rs61750991 0.01830
NM_022051.3(EGLN1):c.*2061C>G rs116262857 0.01601
NM_022051.2(EGLN1):c.-698G>A rs80010432 0.01338
NM_022051.2(EGLN1):c.-619C>G rs114235192 0.01283
NM_022051.3(EGLN1):c.*1919T>C rs41303095 0.01276
NM_022051.3(EGLN1):c.*2235C>G rs191867 0.01199
NM_022051.3(EGLN1):c.*494G>A rs144067360 0.01167
NM_022051.3(EGLN1):c.*1787T>G rs143135847 0.01166
NM_022051.2(EGLN1):c.-420C>G rs533281866 0.00989
NM_022051.2(EGLN1):c.-2735G>A rs12094665 0.00522
NM_022051.3(EGLN1):c.*2096T>C rs141735901 0.00396
NM_022051.3(EGLN1):c.*387G>A rs192117490 0.00302
NM_022051.2(EGLN1):c.-2709C>T rs373140957 0.00292
NM_022051.3(EGLN1):c.*452A>G rs186972462 0.00277
NM_022051.2(EGLN1):c.-2369C>T rs149120358 0.00268
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_022051.2(EGLN1):c.-2345G>C rs145066596 0.00239
NM_022051.2(EGLN1):c.-2696G>A rs147783454 0.00238
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_022051.3(EGLN1):c.1113C>T (p.Arg371=) rs143991968 0.00206
NM_022051.3(EGLN1):c.*2598G>A rs77496832 0.00195
NM_022051.3(EGLN1):c.1272C>T (p.Asp424=) rs61734647 0.00188
NM_022051.2(EGLN1):c.-1212A>G rs41310557 0.00183
NM_022051.2(EGLN1):c.-2419G>C rs188721782 0.00173
NM_022051.3(EGLN1):c.*622A>G rs183632912 0.00152
NM_022051.2(EGLN1):c.-1609G>A rs41303113 0.00149
NM_022051.3(EGLN1):c.*2043C>T rs193073371 0.00143
NM_022051.3(EGLN1):c.*21C>G rs199612416 0.00121
NM_022051.3(EGLN1):c.311C>T (p.Ser104Phe) rs551207815 0.00113
NM_022051.2(EGLN1):c.-2203T>C rs184200552 0.00091
NM_022051.2(EGLN1):c.-2456A>G rs541100189 0.00084
NM_022051.3(EGLN1):c.*1199A>G rs185930120 0.00080
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) rs186996510 0.00079
NM_022051.3(EGLN1):c.*1288C>T rs578226800 0.00061
NM_022051.3(EGLN1):c.1259C>T (p.Ser420Leu) rs147839743 0.00049
NM_022051.3(EGLN1):c.470A>G (p.Gln157Arg) rs748272071 0.00041
NM_022051.2(EGLN1):c.-786G>A rs190966487 0.00038
NM_022051.3(EGLN1):c.*1088C>T rs763620691 0.00035
NM_022051.3(EGLN1):c.*1965A>G rs185322052 0.00035
NM_022051.2(EGLN1):c.-2887A>G rs755076898 0.00034
NM_022051.2(EGLN1):c.-1296T>G rs568496391 0.00030
NM_022051.3(EGLN1):c.120C>T (p.Phe40=) rs555121182 0.00029
NM_022051.3(EGLN1):c.-20T>C rs756211725 0.00028
NM_022051.3(EGLN1):c.*663C>T rs375652885 0.00026
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu) rs796280222 0.00026
NM_022051.2(EGLN1):c.-470C>T rs886046118 0.00025
NM_022051.3(EGLN1):c.*1185T>C rs775022659 0.00024
NM_022051.3(EGLN1):c.*2044G>A rs886046096 0.00024
NM_022051.3(EGLN1):c.-374C>T rs551144196 0.00024
NM_022051.3(EGLN1):c.*1731C>T rs759117979 0.00022
NM_022051.3(EGLN1):c.924G>A (p.Thr308=) rs201523464 0.00019
NM_022051.3(EGLN1):c.*371A>C rs923016967 0.00018
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn) rs201365992 0.00018
NM_022051.3(EGLN1):c.*575A>T rs373743992 0.00016
NM_022051.3(EGLN1):c.354C>T (p.Ala118=) rs1370030808 0.00016
NM_022051.2(EGLN1):c.-437C>T rs886046116 0.00014
NM_022051.2(EGLN1):c.-901T>C rs886046125 0.00014
NM_022051.3(EGLN1):c.276G>C (p.Glu92Asp) rs992728216 0.00014
NM_022051.3(EGLN1):c.41G>A (p.Ser14Asn) rs761497751 0.00014
NM_022051.2(EGLN1):c.-2169C>T rs886046129 0.00012
NM_022051.3(EGLN1):c.-37G>C rs779132675 0.00011
NM_022051.3(EGLN1):c.369C>G (p.Ala123=) rs977096708 0.00011
NM_022051.3(EGLN1):c.419C>T (p.Ala140Val) rs768557500 0.00009
NM_022051.3(EGLN1):c.735T>G (p.Ser245Arg) rs764531356 0.00008
NM_022051.2(EGLN1):c.-1590C>T rs368110035 0.00006
NM_022051.2(EGLN1):c.-461C>A rs886046117 0.00006
NM_022051.2(EGLN1):c.-969G>A rs766034321 0.00006
NM_022051.3(EGLN1):c.*1911C>T rs886046097 0.00006
NM_022051.3(EGLN1):c.*965A>G rs773908732 0.00006
NM_022051.3(EGLN1):c.205G>C (p.Val69Leu) rs931430574 0.00006
NM_022051.3(EGLN1):c.457T>C (p.Ser153Pro) rs963834004 0.00006
NM_022051.3(EGLN1):c.489C>T (p.Tyr163=) rs773919305 0.00006
NM_022051.3(EGLN1):c.8A>G (p.Asn3Ser) rs879573663 0.00006
NM_022051.3(EGLN1):c.939T>C (p.His313=) rs777082260 0.00006
NM_022051.3(EGLN1):c.168C>T (p.Leu56=) rs750205790 0.00005
NM_022051.3(EGLN1):c.325A>G (p.Lys109Glu) rs891489163 0.00005
NM_022051.3(EGLN1):c.575A>G (p.Lys192Arg) rs75538505 0.00005
NM_022051.2(EGLN1):c.-1517A>G rs750706558 0.00004
NM_022051.2(EGLN1):c.-1959G>A rs886046128 0.00004
NM_022051.3(EGLN1):c.1216+16G>A rs1482429599 0.00004
NM_022051.3(EGLN1):c.1244A>G (p.Asn415Ser) rs748926816 0.00004
NM_022051.3(EGLN1):c.280A>G (p.Arg94Gly) rs539743848 0.00004
NM_022051.3(EGLN1):c.378G>A (p.Pro126=) rs940090389 0.00004
NM_022051.3(EGLN1):c.597G>A (p.Val199=) rs563998083 0.00004
NM_022051.2(EGLN1):c.-2568G>T rs185603039 0.00003
NM_022051.3(EGLN1):c.*1010C>T rs886046100 0.00003
NM_022051.3(EGLN1):c.*1854T>G rs774937283 0.00003
NM_022051.3(EGLN1):c.*421A>G rs886046107 0.00003
NM_022051.3(EGLN1):c.*603C>A rs886046104 0.00003
NM_022051.3(EGLN1):c.1011+7A>G rs199507950 0.00003
NM_022051.3(EGLN1):c.67C>T (p.Leu23=) rs768214321 0.00003
NM_022051.3(EGLN1):c.763A>G (p.Lys255Glu) rs767916069 0.00003
NM_022051.3(EGLN1):c.*2577G>C rs886046095 0.00002
NM_022051.3(EGLN1):c.*434T>G rs974916553 0.00002
NM_022051.3(EGLN1):c.*841C>T rs1042628099 0.00002
NM_022051.3(EGLN1):c.-111G>A rs886046113 0.00002
NM_022051.3(EGLN1):c.-46C>T rs899734016 0.00002
NM_022051.3(EGLN1):c.1203A>G (p.Val401=) rs1388172183 0.00002
NM_022051.3(EGLN1):c.1216+6C>T rs376628693 0.00002
NM_022051.3(EGLN1):c.1273G>A (p.Val425Ile) rs1472408827 0.00002
NM_022051.3(EGLN1):c.24C>T (p.Pro8=) rs766080154 0.00002
NM_022051.3(EGLN1):c.27C>T (p.Gly9=) rs575002938 0.00002
NM_022051.3(EGLN1):c.319G>T (p.Ala107Ser) rs531081279 0.00002
NM_022051.3(EGLN1):c.321G>A (p.Ala107=) rs938944314 0.00002
NM_022051.3(EGLN1):c.350C>T (p.Pro117Leu) rs1050394369 0.00002
NM_022051.3(EGLN1):c.386C>T (p.Ala129Val) rs1380554913 0.00002
NM_022051.3(EGLN1):c.405C>T (p.Gly135=) rs781566823 0.00002
NM_022051.3(EGLN1):c.510G>A (p.Gly170=) rs753663555 0.00002
NM_022051.3(EGLN1):c.515C>T (p.Ala172Val) rs777466821 0.00002
NM_022051.3(EGLN1):c.522C>T (p.Ser174=) rs767045832 0.00002
NM_022051.3(EGLN1):c.588G>A (p.Glu196=) rs766038717 0.00002
NM_022051.3(EGLN1):c.630G>A (p.Val210=) rs767760072 0.00002
NM_022051.3(EGLN1):c.672C>T (p.Asp224=) rs1656579647 0.00002
NM_022051.3(EGLN1):c.87C>T (p.Asn29=) rs771144835 0.00002
NM_022051.3(EGLN1):c.917A>G (p.Asn306Ser) rs560996946 0.00002
NM_022051.3(EGLN1):c.934C>T (p.Arg312Cys) rs748814440 0.00002
NM_022051.2(EGLN1):c.-1159T>C rs1273579470 0.00001
NM_022051.2(EGLN1):c.-1305A>C rs1656707976 0.00001
NM_022051.2(EGLN1):c.-2340A>G rs886046130 0.00001
NM_022051.2(EGLN1):c.-2567C>T rs193048016 0.00001
NM_022051.2(EGLN1):c.-2695A>G rs886046132 0.00001
NM_022051.2(EGLN1):c.-2762C>T rs886046133 0.00001
NM_022051.2(EGLN1):c.-2767G>A rs886046134 0.00001
NM_022051.2(EGLN1):c.-565C>A rs886046120 0.00001
NM_022051.2(EGLN1):c.-694C>T rs886046122 0.00001
NM_022051.2(EGLN1):c.-720C>T rs886046123 0.00001
NM_022051.2(EGLN1):c.-766T>C rs1656688727 0.00001
NM_022051.2(EGLN1):c.-797C>G rs886046124 0.00001
NM_022051.3(EGLN1):c.*1326T>C rs1315144793 0.00001
NM_022051.3(EGLN1):c.*2491C>T rs1333130258 0.00001
NM_022051.3(EGLN1):c.*650A>T rs1489752896 0.00001
NM_022051.3(EGLN1):c.*796C>A rs886046103 0.00001
NM_022051.3(EGLN1):c.*798C>T rs886046102 0.00001
NM_022051.3(EGLN1):c.*944C>T rs886046101 0.00001
NM_022051.3(EGLN1):c.-140C>T rs886046114 0.00001
NM_022051.3(EGLN1):c.103C>G (p.Arg35Gly) rs778100040 0.00001
NM_022051.3(EGLN1):c.1065C>T (p.Asp355=) rs746279366 0.00001
NM_022051.3(EGLN1):c.1209T>C (p.Tyr403=) rs778151367 0.00001
NM_022051.3(EGLN1):c.1216+7G>A rs541795999 0.00001
NM_022051.3(EGLN1):c.1234G>A (p.Val412Ile) rs768347513 0.00001
NM_022051.3(EGLN1):c.1263C>T (p.Val421=) rs756924512 0.00001
NM_022051.3(EGLN1):c.1264G>A (p.Gly422Ser) rs753505082 0.00001
NM_022051.3(EGLN1):c.190G>A (p.Ala64Thr) rs776333127 0.00001
NM_022051.3(EGLN1):c.195C>A (p.Leu65=) rs1481560261 0.00001
NM_022051.3(EGLN1):c.202G>C (p.Gly68Arg) rs763530007 0.00001
NM_022051.3(EGLN1):c.225C>T (p.Ser75=) rs1261683983 0.00001
NM_022051.3(EGLN1):c.245C>T (p.Ala82Val) rs771498926 0.00001
NM_022051.3(EGLN1):c.252G>T (p.Pro84=) rs1060504235 0.00001
NM_022051.3(EGLN1):c.261G>C (p.Arg87Ser) rs1024909187 0.00001
NM_022051.3(EGLN1):c.272G>A (p.Arg91Gln) rs1180795317 0.00001
NM_022051.3(EGLN1):c.32C>T (p.Pro11Leu) rs1198122970 0.00001
NM_022051.3(EGLN1):c.345G>T (p.Lys115Asn) rs1307321781 0.00001
NM_022051.3(EGLN1):c.371C>T (p.Ala124Val) rs972861708 0.00001
NM_022051.3(EGLN1):c.372G>T (p.Ala124=) rs1313369998 0.00001
NM_022051.3(EGLN1):c.445C>A (p.Pro149Thr) rs374893731 0.00001
NM_022051.3(EGLN1):c.459A>G (p.Ser153=) rs1228828348 0.00001
NM_022051.3(EGLN1):c.461C>A (p.Ser154Ter) rs1018129986 0.00001
NM_022051.3(EGLN1):c.477G>A (p.Lys159=) rs766985056 0.00001
NM_022051.3(EGLN1):c.483C>T (p.Asn161=) rs763502578 0.00001
NM_022051.3(EGLN1):c.491C>T (p.Pro164Leu) rs770213782 0.00001
NM_022051.3(EGLN1):c.634G>A (p.Asp212Asn) rs376247953 0.00001
NM_022051.3(EGLN1):c.642C>A (p.Leu214=) rs145743493 0.00001
NM_022051.3(EGLN1):c.892-13A>G rs528412168 0.00001
NM_022051.3(EGLN1):c.925G>T (p.Gly309Cys) rs774056264 0.00001
NM_022051.3(EGLN1):c.95G>A (p.Arg32His) rs867477927 0.00001
NC_000001.10:g.(?_231502157)_(231557634_?)dup
NM_022051.2(EGLN1):c.-1519C>A rs1333217413
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-1662_-1661delAC rs886046126
NM_022051.2(EGLN1):c.-1809A>G rs748537901
NM_022051.2(EGLN1):c.-1832G>A rs886046127
NM_022051.2(EGLN1):c.-1841A>G rs565638198
NM_022051.2(EGLN1):c.-2450T>G rs143021749
NM_022051.2(EGLN1):c.-2621G>C rs886046131
NM_022051.2(EGLN1):c.-2689_-2686delCACT rs577920148
NM_022051.2(EGLN1):c.-2744T>C rs531866773
NM_022051.2(EGLN1):c.-3142dupA rs111995599
NM_022051.2(EGLN1):c.-423G>A rs1401812988
NM_022051.2(EGLN1):c.-506C>T rs943301519
NM_022051.2(EGLN1):c.-516A>C rs886046119
NM_022051.2(EGLN1):c.-531A>C rs113172460
NM_022051.2(EGLN1):c.-531A>G rs113172460
NM_022051.2(EGLN1):c.-550C>G rs1440287491
NM_022051.2(EGLN1):c.-593C>G rs1380469993
NM_022051.2(EGLN1):c.-615C>A rs867092704
NM_022051.2(EGLN1):c.-655G>A rs886046121
NM_022051.2(EGLN1):c.-928T>A rs182333595
NM_022051.3(EGLN1):c.*1410ATTTT[1] rs886046099
NM_022051.3(EGLN1):c.*1428_*1429del rs886046098
NM_022051.3(EGLN1):c.*1434_*1436del rs201012894
NM_022051.3(EGLN1):c.*1487C>T rs574739784
NM_022051.3(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.3(EGLN1):c.*1825G>A rs1687590538
NM_022051.3(EGLN1):c.*2023A>G rs1687584190
NM_022051.3(EGLN1):c.*2416_*2419del rs574848765
NM_022051.3(EGLN1):c.*261_*263del rs886046108
NM_022051.3(EGLN1):c.*535T>G rs886046106
NM_022051.3(EGLN1):c.*555_*559del rs886046105
NM_022051.3(EGLN1):c.*648del rs149920332
NM_022051.3(EGLN1):c.*68G>A
NM_022051.3(EGLN1):c.*758GTTTT[2] rs576306593
NM_022051.3(EGLN1):c.*92G>C
NM_022051.3(EGLN1):c.*934T>G rs1687618996
NM_022051.3(EGLN1):c.*972G>A rs867975663
NM_022051.3(EGLN1):c.-188A>C rs1656652896
NM_022051.3(EGLN1):c.-377G>A rs564650969
NM_022051.3(EGLN1):c.-379A>C rs533584823
NM_022051.3(EGLN1):c.-379A>T rs533584823
NM_022051.3(EGLN1):c.-386C>A rs886046115
NM_022051.3(EGLN1):c.1008C>T (p.Ala336=)
NM_022051.3(EGLN1):c.1010dup (p.Val338fs) rs2102898170
NM_022051.3(EGLN1):c.1011+11T>G rs2102898155
NM_022051.3(EGLN1):c.1011+15T>C
NM_022051.3(EGLN1):c.1011+17A>G
NM_022051.3(EGLN1):c.1012-11T>C
NM_022051.3(EGLN1):c.1012-13G>T
NM_022051.3(EGLN1):c.1012-14G>C
NM_022051.3(EGLN1):c.1012-17T>C
NM_022051.3(EGLN1):c.1012-5C>G
NM_022051.3(EGLN1):c.1012G>C (p.Val338Leu) rs1687797398
NM_022051.3(EGLN1):c.1018G>A (p.Gly340Arg) rs2102894569
NM_022051.3(EGLN1):c.1022G>C (p.Gly341Ala)
NM_022051.3(EGLN1):c.1026A>G (p.Ile342Met) rs1156457644
NM_022051.3(EGLN1):c.103C>T (p.Arg35Cys)
NM_022051.3(EGLN1):c.104G>A (p.Arg35His)
NM_022051.3(EGLN1):c.104G>T (p.Arg35Leu)
NM_022051.3(EGLN1):c.105C>T (p.Arg35=)
NM_022051.3(EGLN1):c.108C>T (p.Cys36=)
NM_022051.3(EGLN1):c.1092G>C (p.Leu364=)
NM_022051.3(EGLN1):c.1108C>T (p.Arg370Cys)
NM_022051.3(EGLN1):c.1112G>A (p.Arg371His) rs119476044
NM_022051.3(EGLN1):c.1119T>A (p.Pro373=) rs756264599
NM_022051.3(EGLN1):c.111C>T (p.Arg37=)
NM_022051.3(EGLN1):c.1121A>G (p.His374Arg) rs119476045
NM_022051.3(EGLN1):c.1131A>G (p.Gln377=)
NM_022051.3(EGLN1):c.1132C>T (p.Pro378Ser)
NM_022051.3(EGLN1):c.1148+15C>T
NM_022051.3(EGLN1):c.1148+7T>G
NM_022051.3(EGLN1):c.1149-13A>C
NM_022051.3(EGLN1):c.116C>T (p.Ser39Phe)
NM_022051.3(EGLN1):c.1182T>A (p.Asp394Glu) rs1572014723
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)
NM_022051.3(EGLN1):c.1193G>A (p.Arg398Gln)
NM_022051.3(EGLN1):c.1201G>A (p.Val401Ile) rs771491532
NM_022051.3(EGLN1):c.1208A>G (p.Tyr403Cys)
NM_022051.3(EGLN1):c.1216+18C>T
NM_022051.3(EGLN1):c.1216+20A>G
NM_022051.3(EGLN1):c.1217-10del rs371155853
NM_022051.3(EGLN1):c.1217-10dup rs371155853
NM_022051.3(EGLN1):c.1217-7C>T
NM_022051.3(EGLN1):c.1227T>C (p.Gly409=)
NM_022051.3(EGLN1):c.122_124del (p.Tyr41del) rs1182227189
NM_022051.3(EGLN1):c.1234dup (p.Val412fs)
NM_022051.3(EGLN1):c.1250C>T (p.Pro417Leu) rs1293477221
NM_022051.3(EGLN1):c.1257T>C (p.Asp419=) rs1348057473
NM_022051.3(EGLN1):c.1260G>A (p.Ser420=)
NM_022051.3(EGLN1):c.1265G>T (p.Gly422Val)
NM_022051.3(EGLN1):c.1278C>T (p.Phe426=)
NM_022051.3(EGLN1):c.1279T>C (p.Ter427Gln) rs767020788
NM_022051.3(EGLN1):c.131A>G (p.Lys44Arg)
NM_022051.3(EGLN1):c.135G>T (p.Glu45Asp) rs2102948215
NM_022051.3(EGLN1):c.140A>G (p.Gln47Arg) rs73121547
NM_022051.3(EGLN1):c.154A>G (p.Lys52Glu)
NM_022051.3(EGLN1):c.15CGGCGGGCC[1] (p.6GGP[1])
NM_022051.3(EGLN1):c.15CGGCGGGCC[3] (p.Pro11_Ser12insGlyGlyPro)
NM_022051.3(EGLN1):c.164A>G (p.Lys55Arg)
NM_022051.3(EGLN1):c.179G>T (p.Gly60Val)
NM_022051.3(EGLN1):c.183C>T (p.Ser61=)
NM_022051.3(EGLN1):c.186G>C (p.Glu62Asp)
NM_022051.3(EGLN1):c.187G>A (p.Gly63Ser)
NM_022051.3(EGLN1):c.195C>T (p.Leu65=)
NM_022051.3(EGLN1):c.199C>T (p.His67Tyr)
NM_022051.3(EGLN1):c.201C>T (p.His67=)
NM_022051.3(EGLN1):c.202G>A (p.Gly68Arg)
NM_022051.3(EGLN1):c.204A>T (p.Gly68=) rs760247413
NM_022051.3(EGLN1):c.209G>A (p.Gly70Asp)
NM_022051.3(EGLN1):c.213A>G (p.Pro71=)
NM_022051.3(EGLN1):c.224C>G (p.Ser75Cys)
NM_022051.3(EGLN1):c.225C>G (p.Ser75=) rs1261683983
NM_022051.3(EGLN1):c.226G>A (p.Gly76Ser) rs1224937631
NM_022051.3(EGLN1):c.227G>T (p.Gly76Val)
NM_022051.3(EGLN1):c.229C>T (p.Pro77Ser) rs920027770
NM_022051.3(EGLN1):c.230C>T (p.Pro77Leu)
NM_022051.3(EGLN1):c.232G>A (p.Ala78Thr) rs1656619749
NM_022051.3(EGLN1):c.234G>T (p.Ala78=)
NM_022051.3(EGLN1):c.237G>A (p.Pro79=)
NM_022051.3(EGLN1):c.240G>C (p.Pro80=)
NM_022051.3(EGLN1):c.242C>G (p.Ala81Gly)
NM_022051.3(EGLN1):c.243T>A (p.Ala81=)
NM_022051.3(EGLN1):c.243_257dup (p.Pro86_Arg87insAlaValProProPro)
NM_022051.3(EGLN1):c.246A>G (p.Ala82=)
NM_022051.3(EGLN1):c.247G>A (p.Val83Met) rs1451855470
NM_022051.3(EGLN1):c.24C>A (p.Pro8=) rs766080154
NM_022051.3(EGLN1):c.253C>G (p.Pro85Ala) rs886046111
NM_022051.3(EGLN1):c.256C>G (p.Pro86Ala) rs1487874168
NM_022051.3(EGLN1):c.259A>G (p.Arg87Gly) rs1167403455
NM_022051.3(EGLN1):c.263C>G (p.Ala88Gly)
NM_022051.3(EGLN1):c.264C>T (p.Ala88=) rs1060504234
NM_022051.3(EGLN1):c.270C>T (p.Ala90=)
NM_022051.3(EGLN1):c.271C>T (p.Arg91Trp)
NM_022051.3(EGLN1):c.275A>C (p.Glu92Ala)
NM_022051.3(EGLN1):c.277C>T (p.Pro93Ser)
NM_022051.3(EGLN1):c.280A>C (p.Arg94=)
NM_022051.3(EGLN1):c.295C>T (p.Arg99Cys) rs2102947932
NM_022051.3(EGLN1):c.297C>A (p.Arg99=)
NM_022051.3(EGLN1):c.305A>G (p.Asn102Ser)
NM_022051.3(EGLN1):c.309C>T (p.Ala103=)
NM_022051.3(EGLN1):c.30G>T (p.Gly10=) rs1337787910
NM_022051.3(EGLN1):c.313G>A (p.Gly105Arg)
NM_022051.3(EGLN1):c.315G>A (p.Gly105=)
NM_022051.3(EGLN1):c.318C>T (p.Asp106=)
NM_022051.3(EGLN1):c.329G>T (p.Gly110Val)
NM_022051.3(EGLN1):c.333A>G (p.Lys111=)
NM_022051.3(EGLN1):c.33G>T (p.Pro11=)
NM_022051.3(EGLN1):c.340G>A (p.Ala114Thr)
NM_022051.3(EGLN1):c.345G>C (p.Lys115Asn) rs1307321781
NM_022051.3(EGLN1):c.346C>A (p.Pro116Thr) rs944307657
NM_022051.3(EGLN1):c.347C>T (p.Pro116Leu)
NM_022051.3(EGLN1):c.349C>T (p.Pro117Ser)
NM_022051.3(EGLN1):c.351G>A (p.Pro117=)
NM_022051.3(EGLN1):c.352G>T (p.Ala118Ser) rs1656606563
NM_022051.3(EGLN1):c.353C>A (p.Ala118Asp) rs1357444347
NM_022051.3(EGLN1):c.362C>G (p.Ala121Gly) rs1312410428
NM_022051.3(EGLN1):c.366G>C (p.Ala122=) rs1352596858
NM_022051.3(EGLN1):c.366_389del (p.Ala124_Ala131del)
NM_022051.3(EGLN1):c.366_389dup (p.Ala124_Ala131dup) rs1470968362
NM_022051.3(EGLN1):c.372_392del (p.Ser125_Ala131del) rs1448568741
NM_022051.3(EGLN1):c.37C>G (p.Pro13Ala)
NM_022051.3(EGLN1):c.382C>A (p.Arg128Ser) rs756094298
NM_022051.3(EGLN1):c.382C>G (p.Arg128Gly)
NM_022051.3(EGLN1):c.382C>T (p.Arg128Cys)
NM_022051.3(EGLN1):c.387G>C (p.Ala129=) rs2102947714
NM_022051.3(EGLN1):c.3G>T (p.Met1Ile) rs1308120626
NM_022051.3(EGLN1):c.404G>A (p.Gly135Asp) rs1176313181
NM_022051.3(EGLN1):c.408G>A (p.Ser136=) rs2102947668
NM_022051.3(EGLN1):c.413T>C (p.Val138Ala) rs1408448213
NM_022051.3(EGLN1):c.413T>G (p.Val138Gly)
NM_022051.3(EGLN1):c.415G>A (p.Ala139Thr)
NM_022051.3(EGLN1):c.416C>T (p.Ala139Val)
NM_022051.3(EGLN1):c.424G>A (p.Ala142Thr)
NM_022051.3(EGLN1):c.425C>G (p.Ala142Gly)
NM_022051.3(EGLN1):c.428A>T (p.Glu143Val)
NM_022051.3(EGLN1):c.430C>G (p.Pro144Ala)
NM_022051.3(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.3(EGLN1):c.433G>C (p.Gly145Arg)
NM_022051.3(EGLN1):c.436A>C (p.Lys146Gln)
NM_022051.3(EGLN1):c.438G>A (p.Lys146=)
NM_022051.3(EGLN1):c.440A>G (p.Glu147Gly)
NM_022051.3(EGLN1):c.447G>A (p.Pro149=)
NM_022051.3(EGLN1):c.449C>T (p.Pro150Leu) rs758337994
NM_022051.3(EGLN1):c.453C>G (p.Ala151=)
NM_022051.3(EGLN1):c.453C>T (p.Ala151=)
NM_022051.3(EGLN1):c.454C>A (p.Arg152Ser) rs1200860908
NM_022051.3(EGLN1):c.454C>G (p.Arg152Gly)
NM_022051.3(EGLN1):c.454C>T (p.Arg152Cys)
NM_022051.3(EGLN1):c.458C>T (p.Ser153Leu)
NM_022051.3(EGLN1):c.471G>A (p.Gln157=)
NM_022051.3(EGLN1):c.472_474del (p.Glu158del)
NM_022051.3(EGLN1):c.477G>T (p.Lys159Asn) rs766985056
NM_022051.3(EGLN1):c.480G>A (p.Ala160=) rs2102947471
NM_022051.3(EGLN1):c.484C>T (p.Leu162=)
NM_022051.3(EGLN1):c.487T>G (p.Tyr163Asp)
NM_022051.3(EGLN1):c.490C>A (p.Pro164Thr) rs1407678909
NM_022051.3(EGLN1):c.490C>T (p.Pro164Ser)
NM_022051.3(EGLN1):c.493C>A (p.Pro165Thr)
NM_022051.3(EGLN1):c.493C>G (p.Pro165Ala) rs200502960
NM_022051.3(EGLN1):c.494del (p.Pro165fs)
NM_022051.3(EGLN1):c.496A>G (p.Ser166Gly)
NM_022051.3(EGLN1):c.503C>T (p.Thr168Met)
NM_022051.3(EGLN1):c.508G>C (p.Gly170Arg)
NM_022051.3(EGLN1):c.517C>T (p.Leu173=) rs1656589017
NM_022051.3(EGLN1):c.520A>T (p.Ser174Cys)
NM_022051.3(EGLN1):c.530G>A (p.Gly177Asp)
NM_022051.3(EGLN1):c.538C>T (p.Arg180Trp)
NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln) rs886046112
NM_022051.3(EGLN1):c.541C>T (p.Pro181Ser)
NM_022051.3(EGLN1):c.543C>G (p.Pro181=)
NM_022051.3(EGLN1):c.546C>G (p.Asn182Lys) rs1258825907
NM_022051.3(EGLN1):c.561C>T (p.Pro187=)
NM_022051.3(EGLN1):c.566C>T (p.Pro189Leu)
NM_022051.3(EGLN1):c.568_569delinsTT (p.Ala190Leu) rs1558086261
NM_022051.3(EGLN1):c.569C>G (p.Ala190Gly) rs769931960
NM_022051.3(EGLN1):c.570G>A (p.Ala190=)
NM_022051.3(EGLN1):c.577C>T (p.Leu193=)
NM_022051.3(EGLN1):c.582G>A (p.Ala194=)
NM_022051.3(EGLN1):c.585C>G (p.Leu195=) rs1467879744
NM_022051.3(EGLN1):c.585C>T (p.Leu195=) rs1467879744
NM_022051.3(EGLN1):c.595G>T (p.Val199Leu) rs2102947196
NM_022051.3(EGLN1):c.597G>C (p.Val199=) rs563998083
NM_022051.3(EGLN1):c.599C>G (p.Pro200Arg)
NM_022051.3(EGLN1):c.612G>A (p.Lys204=)
NM_022051.3(EGLN1):c.618C>A (p.Gly206=)
NM_022051.3(EGLN1):c.63C>T (p.Cys21=)
NM_022051.3(EGLN1):c.668_673dup (p.Asp224_Glu225insGlyAsp)
NM_022051.3(EGLN1):c.683C>G (p.Ala228Gly)
NM_022051.3(EGLN1):c.687G>A (p.Leu229=)
NM_022051.3(EGLN1):c.6C>T (p.Ala2=) rs2102948442
NM_022051.3(EGLN1):c.706A>G (p.Thr236Ala)
NM_022051.3(EGLN1):c.718C>T (p.Leu240=)
NM_022051.3(EGLN1):c.734G>A (p.Ser245Asn)
NM_022051.3(EGLN1):c.738C>G (p.Asp246Glu)
NM_022051.3(EGLN1):c.739T>G (p.Ser247Ala) rs886046109
NM_022051.3(EGLN1):c.740C>G (p.Ser247Trp)
NM_022051.3(EGLN1):c.756A>G (p.Arg252=)
NM_022051.3(EGLN1):c.768C>T (p.Ile256=)
NM_022051.3(EGLN1):c.771C>G (p.Thr257=)
NM_022051.3(EGLN1):c.771C>T (p.Thr257=)
NM_022051.3(EGLN1):c.774G>A (p.Trp258Ter)
NM_022051.3(EGLN1):c.892-11_892-6del rs748954220
NM_022051.3(EGLN1):c.892-14_892-12del rs1687895075
NM_022051.3(EGLN1):c.892-15T>C
NM_022051.3(EGLN1):c.892-20C>A
NM_022051.3(EGLN1):c.903T>C (p.Ala301=)
NM_022051.3(EGLN1):c.909T>C (p.Tyr303=) rs2102898250
NM_022051.3(EGLN1):c.912G>A (p.Pro304=)
NM_022051.3(EGLN1):c.923C>T (p.Thr308Met)
NM_022051.3(EGLN1):c.950C>G (p.Pro317Arg) rs80358193
NM_022051.3(EGLN1):c.954T>C (p.Asn318=)
NM_022051.3(EGLN1):c.96C>T (p.Arg32=)
NM_022051.3(EGLN1):c.972G>A (p.Val324=)
NM_022051.3(EGLN1):c.973A>C (p.Thr325Pro)
NM_022051.3(EGLN1):c.975A>G (p.Thr325=) rs374733352
NM_022051.3(EGLN1):c.975A>T (p.Thr325=) rs374733352
NM_022051.3(EGLN1):c.980T>C (p.Ile327Thr) rs2102898186
NM_022051.3(EGLN1):c.993T>C (p.Asn331=)
NM_022051.3(EGLN1):c.9T>G (p.Asn3Lys)

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