ClinVar Miner

List of variants in gene EGLN1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 877
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.1217-24A>T rs1435167 0.56992
NM_022051.3(EGLN1):c.1011+318G>A rs2572263 0.55407
NM_022051.3(EGLN1):c.1012-113C>T rs2256908 0.54279
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.1011+297A>G rs34584064 0.05595
NM_022051.3(EGLN1):c.1012-156A>G rs6670024 0.03445
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.892-168C>G rs141850369 0.01192
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.1A>G (p.Met1Val) rs1656639584 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
NC_000001.11:g.231425284C>G rs1890767
NG_015865.1(EGLN1):g.[8168C>G;8536G>C]
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.-1_1ins6
NM_022051.2(EGLN1):c.-2450T>G rs143021749
NM_022051.2(EGLN1):c.-2621G>C rs886046131
NM_022051.2(EGLN1):c.-2692_-2689delACTC rs577920148
NM_022051.2(EGLN1):c.-2744T>C rs531866773
NM_022051.2(EGLN1):c.-3146dup 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.-18GCC[4]
NM_022051.3(EGLN1):c.-18GCC[5]
NM_022051.3(EGLN1):c.-19_-17CGC[7]
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.100A>T (p.Ser34Cys)
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.1011+276_1011+281del rs1253802469
NM_022051.3(EGLN1):c.1011+277AC[12] rs60871560
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.1014A>G (p.Val338=)
NM_022051.3(EGLN1):c.1016G>A (p.Ser339Asn)
NM_022051.3(EGLN1):c.1018G>A (p.Gly340Arg) rs2102894569
NM_022051.3(EGLN1):c.1020A>T (p.Gly340=)
NM_022051.3(EGLN1):c.1022G>C (p.Gly341Ala)
NM_022051.3(EGLN1):c.1026A>G (p.Ile342Met) rs1156457644
NM_022051.3(EGLN1):c.102C>A (p.Ser34Arg)
NM_022051.3(EGLN1):c.102C>G (p.Ser34Arg)
NM_022051.3(EGLN1):c.102C>T (p.Ser34=)
NM_022051.3(EGLN1):c.1035T>G (p.Ile345Met)
NM_022051.3(EGLN1):c.1038T>C (p.Phe346=)
NM_022051.3(EGLN1):c.103C>T (p.Arg35Cys)
NM_022051.3(EGLN1):c.1049A>G (p.Lys350Arg)
NM_022051.3(EGLN1):c.104G>A (p.Arg35His)
NM_022051.3(EGLN1):c.104G>T (p.Arg35Leu)
NM_022051.3(EGLN1):c.1053C>T (p.Ala351=)
NM_022051.3(EGLN1):c.1055A>G (p.Gln352Arg)
NM_022051.3(EGLN1):c.1059T>G (p.Phe353Leu)
NM_022051.3(EGLN1):c.105C>T (p.Arg35=)
NM_022051.3(EGLN1):c.1066A>G (p.Ile356Val)
NM_022051.3(EGLN1):c.1068T>C (p.Ile356=)
NM_022051.3(EGLN1):c.1072C>T (p.Pro358Ser)
NM_022051.3(EGLN1):c.1074C>G (p.Pro358=)
NM_022051.3(EGLN1):c.1075A>C (p.Lys359Gln)
NM_022051.3(EGLN1):c.1083T>C (p.Asp361=)
NM_022051.3(EGLN1):c.108C>T (p.Cys36=)
NM_022051.3(EGLN1):c.1092G>C (p.Leu364=)
NM_022051.3(EGLN1):c.1097T>A (p.Phe366Tyr)
NM_022051.3(EGLN1):c.109C>T (p.Arg37Cys)
NM_022051.3(EGLN1):c.1104T>C (p.Ser368=)
NM_022051.3(EGLN1):c.1108C>T (p.Arg370Cys)
NM_022051.3(EGLN1):c.110G>A (p.Arg37His)
NM_022051.3(EGLN1):c.1112G>A (p.Arg371His) rs119476044
NM_022051.3(EGLN1):c.1117C>T (p.Pro373Ser)
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.1122T>C (p.His374=)
NM_022051.3(EGLN1):c.1125A>G (p.Glu375=)
NM_022051.3(EGLN1):c.1129C>G (p.Gln377Glu)
NM_022051.3(EGLN1):c.1131A>G (p.Gln377=)
NM_022051.3(EGLN1):c.1132C>T (p.Pro378Ser)
NM_022051.3(EGLN1):c.1137A>G (p.Ala379=)
NM_022051.3(EGLN1):c.1138T>C (p.Tyr380His)
NM_022051.3(EGLN1):c.1140T>C (p.Tyr380=)
NM_022051.3(EGLN1):c.1143T>A (p.Ala381=)
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.114C>T (p.Ser38=)
NM_022051.3(EGLN1):c.1152C>T (p.Tyr384=)
NM_022051.3(EGLN1):c.1155A>G (p.Ala385=)
NM_022051.3(EGLN1):c.1156A>G (p.Ile386Val)
NM_022051.3(EGLN1):c.115T>A (p.Ser39Thr)
NM_022051.3(EGLN1):c.1161T>G (p.Thr387=)
NM_022051.3(EGLN1):c.116C>A (p.Ser39Tyr)
NM_022051.3(EGLN1):c.116C>T (p.Ser39Phe)
NM_022051.3(EGLN1):c.1174G>A (p.Asp392Asn)
NM_022051.3(EGLN1):c.1179A>G (p.Ala393=)
NM_022051.3(EGLN1):c.1179A>T (p.Ala393=)
NM_022051.3(EGLN1):c.117C>T (p.Ser39=)
NM_022051.3(EGLN1):c.1182T>A (p.Asp394Glu) rs1572014723
NM_022051.3(EGLN1):c.1186A>C (p.Arg396=)
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)
NM_022051.3(EGLN1):c.1193G>A (p.Arg398Gln)
NM_022051.3(EGLN1):c.1194A>C (p.Arg398=)
NM_022051.3(EGLN1):c.1194A>G (p.Arg398=)
NM_022051.3(EGLN1):c.11A>G (p.Asp4Gly)
NM_022051.3(EGLN1):c.1201G>A (p.Val401Ile) rs771491532
NM_022051.3(EGLN1):c.1202T>G (p.Val401Gly)
NM_022051.3(EGLN1):c.1206A>G (p.Lys402=)
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.1216G>A (p.Gly406Ser)
NM_022051.3(EGLN1):c.1217-10del rs371155853
NM_022051.3(EGLN1):c.1217-10dup rs371155853
NM_022051.3(EGLN1):c.1217-23T>A rs111836138
NM_022051.3(EGLN1):c.1217-24del rs371204614
NM_022051.3(EGLN1):c.1217-7C>T
NM_022051.3(EGLN1):c.1217-89A>G rs1435166
NM_022051.3(EGLN1):c.1221A>G (p.Glu407=)
NM_022051.3(EGLN1):c.1226G>A (p.Gly409Asp)
NM_022051.3(EGLN1):c.1227T>C (p.Gly409=)
NM_022051.3(EGLN1):c.1228G>A (p.Val410Met)
NM_022051.3(EGLN1):c.1228G>T (p.Val410Leu)
NM_022051.3(EGLN1):c.122_124del (p.Tyr41del) rs1182227189
NM_022051.3(EGLN1):c.1230G>C (p.Val410=)
NM_022051.3(EGLN1):c.1234dup (p.Val412fs)
NM_022051.3(EGLN1):c.1237G>A (p.Glu413Lys)
NM_022051.3(EGLN1):c.1240C>T (p.Leu414Phe)
NM_022051.3(EGLN1):c.1245_1247del (p.Asn415del)
NM_022051.3(EGLN1):c.1249C>T (p.Pro417Ser)
NM_022051.3(EGLN1):c.1250C>T (p.Pro417Leu) rs1293477221
NM_022051.3(EGLN1):c.1257T>A (p.Asp419Glu)
NM_022051.3(EGLN1):c.1257T>C (p.Asp419=) rs1348057473
NM_022051.3(EGLN1):c.1260G>A (p.Ser420=)
NM_022051.3(EGLN1):c.1260G>T (p.Ser420=)
NM_022051.3(EGLN1):c.1262T>C (p.Val421Ala)
NM_022051.3(EGLN1):c.1263C>G (p.Val421=)
NM_022051.3(EGLN1):c.1264G>T (p.Gly422Cys)
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.129C>T (p.Cys43=)
NM_022051.3(EGLN1):c.12C>T (p.Asp4=)
NM_022051.3(EGLN1):c.131A>G (p.Lys44Arg)
NM_022051.3(EGLN1):c.132G>A (p.Lys44=)
NM_022051.3(EGLN1):c.134A>T (p.Glu45Val)
NM_022051.3(EGLN1):c.135G>A (p.Glu45=)
NM_022051.3(EGLN1):c.135G>T (p.Glu45Asp) rs2102948215
NM_022051.3(EGLN1):c.136C>T (p.His46Tyr)
NM_022051.3(EGLN1):c.138C>G (p.His46Gln)
NM_022051.3(EGLN1):c.138C>T (p.His46=)
NM_022051.3(EGLN1):c.139C>A (p.Gln47Lys)
NM_022051.3(EGLN1):c.13A>C (p.Ser5Arg)
NM_022051.3(EGLN1):c.140A>G (p.Gln47Arg) rs73121547
NM_022051.3(EGLN1):c.141G>A (p.Gln47=)
NM_022051.3(EGLN1):c.142C>T (p.Arg48Cys)
NM_022051.3(EGLN1):c.144T>C (p.Arg48=)
NM_022051.3(EGLN1):c.147G>A (p.Gln49=)
NM_022051.3(EGLN1):c.148G>C (p.Asp50His)
NM_022051.3(EGLN1):c.148G>T (p.Asp50Tyr)
NM_022051.3(EGLN1):c.150C>T (p.Asp50=)
NM_022051.3(EGLN1):c.152G>C (p.Trp51Ser)
NM_022051.3(EGLN1):c.154A>G (p.Lys52Glu)
NM_022051.3(EGLN1):c.156G>A (p.Lys52=)
NM_022051.3(EGLN1):c.15C>T (p.Ser5=)
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.166C>T (p.Leu56Phe)
NM_022051.3(EGLN1):c.168C>G (p.Leu56=)
NM_022051.3(EGLN1):c.171G>A (p.Val57=)
NM_022051.3(EGLN1):c.177G>A (p.Gln59=)
NM_022051.3(EGLN1):c.178G>A (p.Gly60Ser)
NM_022051.3(EGLN1):c.179G>T (p.Gly60Val)
NM_022051.3(EGLN1):c.180C>T (p.Gly60=)
NM_022051.3(EGLN1):c.183C>T (p.Ser61=)
NM_022051.3(EGLN1):c.184G>A (p.Glu62Lys)
NM_022051.3(EGLN1):c.186G>A (p.Glu62=)
NM_022051.3(EGLN1):c.186G>C (p.Glu62Asp)
NM_022051.3(EGLN1):c.187G>A (p.Gly63Ser)
NM_022051.3(EGLN1):c.188G>A (p.Gly63Asp)
NM_022051.3(EGLN1):c.18C>A (p.Gly6=)
NM_022051.3(EGLN1):c.18C>G (p.Gly6=)
NM_022051.3(EGLN1):c.190G>C (p.Ala64Pro)
NM_022051.3(EGLN1):c.193C>G (p.Leu65Val)
NM_022051.3(EGLN1):c.193C>T (p.Leu65Phe)
NM_022051.3(EGLN1):c.195C>T (p.Leu65=)
NM_022051.3(EGLN1):c.196G>C (p.Gly66Arg)
NM_022051.3(EGLN1):c.197G>C (p.Gly66Ala)
NM_022051.3(EGLN1):c.199C>T (p.His67Tyr)
NM_022051.3(EGLN1):c.19G>A (p.Gly7Arg)
NM_022051.3(EGLN1):c.200A>G (p.His67Arg)
NM_022051.3(EGLN1):c.201C>T (p.His67=)
NM_022051.3(EGLN1):c.202G>A (p.Gly68Arg)
NM_022051.3(EGLN1):c.203G>C (p.Gly68Ala)
NM_022051.3(EGLN1):c.204A>G (p.Gly68=)
NM_022051.3(EGLN1):c.204A>T (p.Gly68=) rs760247413
NM_022051.3(EGLN1):c.206T>A (p.Val69Glu)
NM_022051.3(EGLN1):c.209G>A (p.Gly70Asp)
NM_022051.3(EGLN1):c.209G>C (p.Gly70Ala)
NM_022051.3(EGLN1):c.213A>G (p.Pro71=)
NM_022051.3(EGLN1):c.216C>A (p.His72Gln)
NM_022051.3(EGLN1):c.21G>A (p.Gly7=)
NM_022051.3(EGLN1):c.221A>C (p.His74Pro)
NM_022051.3(EGLN1):c.221A>G (p.His74Arg)
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.231C>A (p.Pro77=)
NM_022051.3(EGLN1):c.231C>G (p.Pro77=)
NM_022051.3(EGLN1):c.232G>A (p.Ala78Thr) rs1656619749
NM_022051.3(EGLN1):c.234G>A (p.Ala78=)
NM_022051.3(EGLN1):c.234G>T (p.Ala78=)
NM_022051.3(EGLN1):c.236C>T (p.Pro79Leu)
NM_022051.3(EGLN1):c.237G>A (p.Pro79=)
NM_022051.3(EGLN1):c.238C>T (p.Pro80Ser)
NM_022051.3(EGLN1):c.23C>T (p.Pro8Leu)
NM_022051.3(EGLN1):c.240G>A (p.Pro80=)
NM_022051.3(EGLN1):c.240G>C (p.Pro80=)
NM_022051.3(EGLN1):c.241G>T (p.Ala81Ser)
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.247G>T (p.Val83Leu)
NM_022051.3(EGLN1):c.248T>G (p.Val83Gly)
NM_022051.3(EGLN1):c.24C>A (p.Pro8=) rs766080154
NM_022051.3(EGLN1):c.24C>G (p.Pro8=)
NM_022051.3(EGLN1):c.250C>T (p.Pro84Ser)
NM_022051.3(EGLN1):c.251C>T (p.Pro84Leu)
NM_022051.3(EGLN1):c.253C>G (p.Pro85Ala) rs886046111
NM_022051.3(EGLN1):c.253C>T (p.Pro85Ser)
NM_022051.3(EGLN1):c.254C>G (p.Pro85Arg)
NM_022051.3(EGLN1):c.255G>T (p.Pro85=)
NM_022051.3(EGLN1):c.256C>G (p.Pro86Ala) rs1487874168
NM_022051.3(EGLN1):c.257C>G (p.Pro86Arg)
NM_022051.3(EGLN1):c.258C>G (p.Pro86=)
NM_022051.3(EGLN1):c.259A>G (p.Arg87Gly) rs1167403455
NM_022051.3(EGLN1):c.25G>C (p.Gly9Arg)
NM_022051.3(EGLN1):c.25G>T (p.Gly9Cys)
NM_022051.3(EGLN1):c.263C>G (p.Ala88Gly)
NM_022051.3(EGLN1):c.264C>T (p.Ala88=) rs1060504234
NM_022051.3(EGLN1):c.265G>A (p.Gly89Arg)
NM_022051.3(EGLN1):c.267G>A (p.Gly89=)
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.276G>T (p.Glu92Asp)
NM_022051.3(EGLN1):c.277C>T (p.Pro93Ser)
NM_022051.3(EGLN1):c.280A>C (p.Arg94=)
NM_022051.3(EGLN1):c.280A>T (p.Arg94Trp)
NM_022051.3(EGLN1):c.288A>C (p.Ala96=)
NM_022051.3(EGLN1):c.288A>G (p.Ala96=)
NM_022051.3(EGLN1):c.28G>A (p.Gly10Arg)
NM_022051.3(EGLN1):c.28G>C (p.Gly10Arg)
NM_022051.3(EGLN1):c.290C>A (p.Ala97Glu)
NM_022051.3(EGLN1):c.294G>C (p.Ala98=)
NM_022051.3(EGLN1):c.295C>T (p.Arg99Cys) rs2102947932
NM_022051.3(EGLN1):c.296G>A (p.Arg99His)
NM_022051.3(EGLN1):c.296G>C (p.Arg99Pro)
NM_022051.3(EGLN1):c.297C>A (p.Arg99=)
NM_022051.3(EGLN1):c.299G>A (p.Arg100Gln)
NM_022051.3(EGLN1):c.303C>A (p.Asp101Glu)
NM_022051.3(EGLN1):c.303C>T (p.Asp101=)
NM_022051.3(EGLN1):c.305A>G (p.Asn102Ser)
NM_022051.3(EGLN1):c.305A>T (p.Asn102Ile)
NM_022051.3(EGLN1):c.308C>T (p.Ala103Val)
NM_022051.3(EGLN1):c.309C>T (p.Ala103=)
NM_022051.3(EGLN1):c.30G>A (p.Gly10=)
NM_022051.3(EGLN1):c.30G>C (p.Gly10=)
NM_022051.3(EGLN1):c.30G>T (p.Gly10=) rs1337787910
NM_022051.3(EGLN1):c.312C>T (p.Ser104=)
NM_022051.3(EGLN1):c.313G>A (p.Gly105Arg)
NM_022051.3(EGLN1):c.313G>C (p.Gly105Arg)
NM_022051.3(EGLN1):c.315G>A (p.Gly105=)
NM_022051.3(EGLN1):c.315G>C (p.Gly105=)
NM_022051.3(EGLN1):c.316G>A (p.Asp106Asn)
NM_022051.3(EGLN1):c.318C>T (p.Asp106=)
NM_022051.3(EGLN1):c.319G>C (p.Ala107Pro)
NM_022051.3(EGLN1):c.31C>T (p.Pro11Ser)
NM_022051.3(EGLN1):c.320C>G (p.Ala107Gly)
NM_022051.3(EGLN1):c.322G>A (p.Ala108Thr)
NM_022051.3(EGLN1):c.324C>T (p.Ala108=)
NM_022051.3(EGLN1):c.326A>G (p.Lys109Arg)
NM_022051.3(EGLN1):c.327G>A (p.Lys109=)
NM_022051.3(EGLN1):c.328G>A (p.Gly110Arg)
NM_022051.3(EGLN1):c.329G>T (p.Gly110Val)
NM_022051.3(EGLN1):c.32C>G (p.Pro11Arg)
NM_022051.3(EGLN1):c.330A>G (p.Gly110=)
NM_022051.3(EGLN1):c.331A>G (p.Lys111Glu)
NM_022051.3(EGLN1):c.332A>C (p.Lys111Thr)
NM_022051.3(EGLN1):c.332A>G (p.Lys111Arg)
NM_022051.3(EGLN1):c.333A>G (p.Lys111=)
NM_022051.3(EGLN1):c.334G>A (p.Val112Ile)
NM_022051.3(EGLN1):c.338A>G (p.Lys113Arg)
NM_022051.3(EGLN1):c.33G>A (p.Pro11=)
NM_022051.3(EGLN1):c.33G>T (p.Pro11=)
NM_022051.3(EGLN1):c.340G>A (p.Ala114Thr)
NM_022051.3(EGLN1):c.341C>A (p.Ala114Asp)
NM_022051.3(EGLN1):c.341C>T (p.Ala114Val)
NM_022051.3(EGLN1):c.343A>G (p.Lys115Glu)
NM_022051.3(EGLN1):c.344A>C (p.Lys115Thr)
NM_022051.3(EGLN1):c.345G>A (p.Lys115=)
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>A (p.Pro116His)
NM_022051.3(EGLN1):c.347C>T (p.Pro116Leu)
NM_022051.3(EGLN1):c.348C>A (p.Pro116=)
NM_022051.3(EGLN1):c.348C>G (p.Pro116=)
NM_022051.3(EGLN1):c.349C>G (p.Pro117Ala)
NM_022051.3(EGLN1):c.349C>T (p.Pro117Ser)
NM_022051.3(EGLN1):c.34A>G (p.Ser12Gly)
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.353C>G (p.Ala118Gly)
NM_022051.3(EGLN1):c.353C>T (p.Ala118Val)
NM_022051.3(EGLN1):c.354C>A (p.Ala118=)
NM_022051.3(EGLN1):c.357C>G (p.Asp119Glu)
NM_022051.3(EGLN1):c.359C>G (p.Pro120Arg)
NM_022051.3(EGLN1):c.360A>C (p.Pro120=)
NM_022051.3(EGLN1):c.360A>T (p.Pro120=)
NM_022051.3(EGLN1):c.362C>G (p.Ala121Gly) rs1312410428
NM_022051.3(EGLN1):c.362C>T (p.Ala121Val)
NM_022051.3(EGLN1):c.363G>T (p.Ala121=)
NM_022051.3(EGLN1):c.365C>G (p.Ala122Gly)
NM_022051.3(EGLN1):c.365C>T (p.Ala122Val)
NM_022051.3(EGLN1):c.366G>A (p.Ala122=)
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.367G>A (p.Ala123Thr)
NM_022051.3(EGLN1):c.36C>T (p.Ser12=)
NM_022051.3(EGLN1):c.372_392del (p.Ser125_Ala131del) rs1448568741
NM_022051.3(EGLN1):c.374C>G (p.Ser125Trp)
NM_022051.3(EGLN1):c.374C>T (p.Ser125Leu)
NM_022051.3(EGLN1):c.375G>A (p.Ser125=)
NM_022051.3(EGLN1):c.375G>T (p.Ser125=)
NM_022051.3(EGLN1):c.377C>A (p.Pro126Gln)
NM_022051.3(EGLN1):c.377C>T (p.Pro126Leu)
NM_022051.3(EGLN1):c.378G>C (p.Pro126=)
NM_022051.3(EGLN1):c.379T>G (p.Cys127Gly)
NM_022051.3(EGLN1):c.37C>G (p.Pro13Ala)
NM_022051.3(EGLN1):c.380G>T (p.Cys127Phe)
NM_022051.3(EGLN1):c.381T>G (p.Cys127Trp)
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.383G>C (p.Arg128Pro)
NM_022051.3(EGLN1):c.385G>A (p.Ala129Thr)
NM_022051.3(EGLN1):c.385G>T (p.Ala129Ser)
NM_022051.3(EGLN1):c.386C>G (p.Ala129Gly)
NM_022051.3(EGLN1):c.387G>C (p.Ala129=) rs2102947714
NM_022051.3(EGLN1):c.38C>G (p.Pro13Arg)
NM_022051.3(EGLN1):c.38C>T (p.Pro13Leu)
NM_022051.3(EGLN1):c.390C>A (p.Ala130=)
NM_022051.3(EGLN1):c.393C>T (p.Ala131=)
NM_022051.3(EGLN1):c.394G>A (p.Gly132Ser)
NM_022051.3(EGLN1):c.395G>T (p.Gly132Val)
NM_022051.3(EGLN1):c.396C>T (p.Gly132=)
NM_022051.3(EGLN1):c.398G>C (p.Gly133Ala)
NM_022051.3(EGLN1):c.399C>T (p.Gly133=)
NM_022051.3(EGLN1):c.39G>A (p.Pro13=)
NM_022051.3(EGLN1):c.39G>T (p.Pro13=)
NM_022051.3(EGLN1):c.3G>T (p.Met1Ile) rs1308120626
NM_022051.3(EGLN1):c.401A>C (p.Gln134Pro)
NM_022051.3(EGLN1):c.401A>G (p.Gln134Arg)
NM_022051.3(EGLN1):c.404G>A (p.Gly135Asp) rs1176313181
NM_022051.3(EGLN1):c.405C>A (p.Gly135=)
NM_022051.3(EGLN1):c.407C>T (p.Ser136Leu)
NM_022051.3(EGLN1):c.408G>A (p.Ser136=) rs2102947668
NM_022051.3(EGLN1):c.409G>A (p.Ala137Thr)
NM_022051.3(EGLN1):c.411G>A (p.Ala137=)
NM_022051.3(EGLN1):c.411G>C (p.Ala137=)
NM_022051.3(EGLN1):c.411G>T (p.Ala137=)
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>G (p.Ala139Gly)
NM_022051.3(EGLN1):c.416C>T (p.Ala139Val)
NM_022051.3(EGLN1):c.420C>A (p.Ala140=)
NM_022051.3(EGLN1):c.420C>G (p.Ala140=)
NM_022051.3(EGLN1):c.422A>C (p.Glu141Ala)
NM_022051.3(EGLN1):c.423A>C (p.Glu141Asp)
NM_022051.3(EGLN1):c.424G>A (p.Ala142Thr)
NM_022051.3(EGLN1):c.425C>G (p.Ala142Gly)
NM_022051.3(EGLN1):c.426C>A (p.Ala142=)
NM_022051.3(EGLN1):c.426C>T (p.Ala142=)
NM_022051.3(EGLN1):c.427G>A (p.Glu143Lys)
NM_022051.3(EGLN1):c.428A>T (p.Glu143Val)
NM_022051.3(EGLN1):c.429G>A (p.Glu143=)
NM_022051.3(EGLN1):c.429G>T (p.Glu143Asp)
NM_022051.3(EGLN1):c.430C>G (p.Pro144Ala)
NM_022051.3(EGLN1):c.430C>T (p.Pro144Ser)
NM_022051.3(EGLN1):c.432C>G (p.Pro144=)
NM_022051.3(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.3(EGLN1):c.433G>C (p.Gly145Arg)
NM_022051.3(EGLN1):c.434G>C (p.Gly145Ala)
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.445C>G (p.Pro149Ala)
NM_022051.3(EGLN1):c.446C>T (p.Pro149Leu)
NM_022051.3(EGLN1):c.447G>A (p.Pro149=)
NM_022051.3(EGLN1):c.449C>T (p.Pro150Leu) rs758337994
NM_022051.3(EGLN1):c.450G>C (p.Pro150=)
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.455G>A (p.Arg152His)
NM_022051.3(EGLN1):c.455G>C (p.Arg152Pro)
NM_022051.3(EGLN1):c.456C>T (p.Arg152=)
NM_022051.3(EGLN1):c.458C>T (p.Ser153Leu)
NM_022051.3(EGLN1):c.461C>T (p.Ser154Leu)
NM_022051.3(EGLN1):c.462G>A (p.Ser154=)
NM_022051.3(EGLN1):c.463C>G (p.Leu155Val)
NM_022051.3(EGLN1):c.467T>A (p.Phe156Tyr)
NM_022051.3(EGLN1):c.469C>G (p.Gln157Glu)
NM_022051.3(EGLN1):c.471G>A (p.Gln157=)
NM_022051.3(EGLN1):c.472_474del (p.Glu158del)
NM_022051.3(EGLN1):c.477G>C (p.Lys159Asn)
NM_022051.3(EGLN1):c.477G>T (p.Lys159Asn) rs766985056
NM_022051.3(EGLN1):c.479C>A (p.Ala160Glu)
NM_022051.3(EGLN1):c.47G>A (p.Arg16Gln)
NM_022051.3(EGLN1):c.480G>A (p.Ala160=) rs2102947471
NM_022051.3(EGLN1):c.482A>G (p.Asn161Ser)
NM_022051.3(EGLN1):c.484C>G (p.Leu162Val)
NM_022051.3(EGLN1):c.484C>T (p.Leu162=)
NM_022051.3(EGLN1):c.487T>A (p.Tyr163Asn)
NM_022051.3(EGLN1):c.487T>G (p.Tyr163Asp)
NM_022051.3(EGLN1):c.488A>G (p.Tyr163Cys)
NM_022051.3(EGLN1):c.490C>A (p.Pro164Thr) rs1407678909
NM_022051.3(EGLN1):c.490C>T (p.Pro164Ser)
NM_022051.3(EGLN1):c.492C>A (p.Pro164=)
NM_022051.3(EGLN1):c.492C>G (p.Pro164=)
NM_022051.3(EGLN1):c.492C>T (p.Pro164=)
NM_022051.3(EGLN1):c.493C>A (p.Pro165Thr)
NM_022051.3(EGLN1):c.493C>G (p.Pro165Ala) rs200502960
NM_022051.3(EGLN1):c.494C>G (p.Pro165Arg)
NM_022051.3(EGLN1):c.494del (p.Pro165fs)
NM_022051.3(EGLN1):c.495A>C (p.Pro165=)
NM_022051.3(EGLN1):c.496A>G (p.Ser166Gly)
NM_022051.3(EGLN1):c.497G>C (p.Ser166Thr)
NM_022051.3(EGLN1):c.498C>T (p.Ser166=)
NM_022051.3(EGLN1):c.500A>C (p.Asn167Thr)
NM_022051.3(EGLN1):c.500A>G (p.Asn167Ser)
NM_022051.3(EGLN1):c.502A>G (p.Thr168Ala)
NM_022051.3(EGLN1):c.503C>T (p.Thr168Met)
NM_022051.3(EGLN1):c.505C>T (p.Pro169Ser)
NM_022051.3(EGLN1):c.507C>T (p.Pro169=)
NM_022051.3(EGLN1):c.508G>C (p.Gly170Arg)
NM_022051.3(EGLN1):c.511G>A (p.Asp171Asn)
NM_022051.3(EGLN1):c.511G>C (p.Asp171His)
NM_022051.3(EGLN1):c.513T>C (p.Asp171=)
NM_022051.3(EGLN1):c.515C>G (p.Ala172Gly)
NM_022051.3(EGLN1):c.516G>T (p.Ala172=)
NM_022051.3(EGLN1):c.517C>A (p.Leu173Met)
NM_022051.3(EGLN1):c.517C>T (p.Leu173=) rs1656589017
NM_022051.3(EGLN1):c.518T>C (p.Leu173Pro)
NM_022051.3(EGLN1):c.520A>T (p.Ser174Cys)
NM_022051.3(EGLN1):c.523C>G (p.Pro175Ala)
NM_022051.3(EGLN1):c.524C>T (p.Pro175Leu)
NM_022051.3(EGLN1):c.525C>T (p.Pro175=)
NM_022051.3(EGLN1):c.528C>T (p.Gly176=)
NM_022051.3(EGLN1):c.52C>A (p.Arg18=)
NM_022051.3(EGLN1):c.52C>T (p.Arg18Trp)
NM_022051.3(EGLN1):c.530G>A (p.Gly177Asp)
NM_022051.3(EGLN1):c.532G>C (p.Gly178Arg)
NM_022051.3(EGLN1):c.533G>T (p.Gly178Val)
NM_022051.3(EGLN1):c.535C>T (p.Leu179=)
NM_022051.3(EGLN1):c.536T>G (p.Leu179Arg)
NM_022051.3(EGLN1):c.538C>A (p.Arg180=)
NM_022051.3(EGLN1):c.538C>T (p.Arg180Trp)
NM_022051.3(EGLN1):c.539G>C (p.Arg180Pro)
NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln) rs886046112
NM_022051.3(EGLN1):c.540G>A (p.Arg180=)
NM_022051.3(EGLN1):c.540G>C (p.Arg180=)
NM_022051.3(EGLN1):c.540G>T (p.Arg180=)
NM_022051.3(EGLN1):c.541C>T (p.Pro181Ser)
NM_022051.3(EGLN1):c.543C>G (p.Pro181=)
NM_022051.3(EGLN1):c.544A>C (p.Asn182His)
NM_022051.3(EGLN1):c.544A>G (p.Asn182Asp)
NM_022051.3(EGLN1):c.544A>T (p.Asn182Tyr)
NM_022051.3(EGLN1):c.545A>G (p.Asn182Ser)
NM_022051.3(EGLN1):c.546C>G (p.Asn182Lys) rs1258825907
NM_022051.3(EGLN1):c.546C>T (p.Asn182=)
NM_022051.3(EGLN1):c.549G>A (p.Gly183=)
NM_022051.3(EGLN1):c.554C>T (p.Thr185Met)
NM_022051.3(EGLN1):c.559C>A (p.Pro187Thr)
NM_022051.3(EGLN1):c.560C>T (p.Pro187Leu)
NM_022051.3(EGLN1):c.561C>G (p.Pro187=)
NM_022051.3(EGLN1):c.561C>T (p.Pro187=)
NM_022051.3(EGLN1):c.562C>T (p.Leu188=)
NM_022051.3(EGLN1):c.563T>G (p.Leu188Arg)
NM_022051.3(EGLN1):c.566C>T (p.Pro189Leu)
NM_022051.3(EGLN1):c.567G>A (p.Pro189=)
NM_022051.3(EGLN1):c.568G>T (p.Ala190Ser)
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.569C>T (p.Ala190Val)
NM_022051.3(EGLN1):c.570G>A (p.Ala190=)
NM_022051.3(EGLN1):c.571C>T (p.Leu191=)
NM_022051.3(EGLN1):c.573G>T (p.Leu191=)
NM_022051.3(EGLN1):c.574A>C (p.Lys192Gln)
NM_022051.3(EGLN1):c.577C>T (p.Leu193=)
NM_022051.3(EGLN1):c.57G>A (p.Gln19=)
NM_022051.3(EGLN1):c.581C>T (p.Ala194Val)
NM_022051.3(EGLN1):c.582G>A (p.Ala194=)
NM_022051.3(EGLN1):c.582G>C (p.Ala194=)
NM_022051.3(EGLN1):c.582G>T (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.58T>C (p.Tyr20His)
NM_022051.3(EGLN1):c.592A>T (p.Ile198Phe)
NM_022051.3(EGLN1):c.594C>T (p.Ile198=)
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.598C>T (p.Pro200Ser)
NM_022051.3(EGLN1):c.599C>A (p.Pro200Gln)
NM_022051.3(EGLN1):c.599C>G (p.Pro200Arg)
NM_022051.3(EGLN1):c.599C>T (p.Pro200Leu)
NM_022051.3(EGLN1):c.600G>C (p.Pro200=)
NM_022051.3(EGLN1):c.600G>T (p.Pro200=)
NM_022051.3(EGLN1):c.603C>T (p.Cys201=)
NM_022051.3(EGLN1):c.604A>T (p.Met202Leu)
NM_022051.3(EGLN1):c.606G>A (p.Met202Ile)
NM_022051.3(EGLN1):c.609C>T (p.Asn203=)
NM_022051.3(EGLN1):c.610A>G (p.Lys204Glu)
NM_022051.3(EGLN1):c.611A>T (p.Lys204Met)
NM_022051.3(EGLN1):c.612G>A (p.Lys204=)
NM_022051.3(EGLN1):c.615C>T (p.His205=)
NM_022051.3(EGLN1):c.618C>A (p.Gly206=)
NM_022051.3(EGLN1):c.624T>C (p.Cys208=)
NM_022051.3(EGLN1):c.627G>A (p.Val209=)
NM_022051.3(EGLN1):c.627G>C (p.Val209=)
NM_022051.3(EGLN1):c.627G>T (p.Val209=)
NM_022051.3(EGLN1):c.633C>A (p.Asp211Glu)
NM_022051.3(EGLN1):c.633C>T (p.Asp211=)
NM_022051.3(EGLN1):c.636C>T (p.Asp212=)
NM_022051.3(EGLN1):c.63C>T (p.Cys21=)
NM_022051.3(EGLN1):c.642C>G (p.Leu214=)
NM_022051.3(EGLN1):c.645C>T (p.Gly215=)
NM_022051.3(EGLN1):c.646A>G (p.Lys216Glu)
NM_022051.3(EGLN1):c.647A>G (p.Lys216Arg)
NM_022051.3(EGLN1):c.648G>C (p.Lys216Asn)
NM_022051.3(EGLN1):c.649G>A (p.Glu217Lys)
NM_022051.3(EGLN1):c.64G>A (p.Glu22Lys)
NM_022051.3(EGLN1):c.652A>G (p.Thr218Ala)
NM_022051.3(EGLN1):c.654C>A (p.Thr218=)
NM_022051.3(EGLN1):c.654C>G (p.Thr218=)
NM_022051.3(EGLN1):c.654C>T (p.Thr218=)
NM_022051.3(EGLN1):c.657A>G (p.Gly219=)
NM_022051.3(EGLN1):c.658C>A (p.Gln220Lys)
NM_022051.3(EGLN1):c.662A>G (p.Gln221Arg)
NM_022051.3(EGLN1):c.663G>C (p.Gln221His)
NM_022051.3(EGLN1):c.664A>G (p.Ile222Val)
NM_022051.3(EGLN1):c.666C>T (p.Ile222=)
NM_022051.3(EGLN1):c.668_673dup (p.Asp224_Glu225insGlyAsp)
NM_022051.3(EGLN1):c.678G>A (p.Val226=)
NM_022051.3(EGLN1):c.679C>G (p.Arg227Gly)
NM_022051.3(EGLN1):c.680G>A (p.Arg227His)
NM_022051.3(EGLN1):c.681C>T (p.Arg227=)
NM_022051.3(EGLN1):c.683C>G (p.Ala228Gly)
NM_022051.3(EGLN1):c.685C>T (p.Leu229=)
NM_022051.3(EGLN1):c.687G>A (p.Leu229=)
NM_022051.3(EGLN1):c.690C>T (p.His230=)
NM_022051.3(EGLN1):c.691G>A (p.Asp231Asn)
NM_022051.3(EGLN1):c.692A>G (p.Asp231Gly)
NM_022051.3(EGLN1):c.693C>T (p.Asp231=)
NM_022051.3(EGLN1):c.694A>G (p.Thr232Ala)
NM_022051.3(EGLN1):c.695C>T (p.Thr232Ile)
NM_022051.3(EGLN1):c.696C>T (p.Thr232=)
NM_022051.3(EGLN1):c.699G>A (p.Gly233=)
NM_022051.3(EGLN1):c.699G>C (p.Gly233=)
NM_022051.3(EGLN1):c.69G>C (p.Leu23=)
NM_022051.3(EGLN1):c.6C>G (p.Ala2=)
NM_022051.3(EGLN1):c.6C>T (p.Ala2=) rs2102948442
NM_022051.3(EGLN1):c.705C>G (p.Phe235Leu)
NM_022051.3(EGLN1):c.706A>G (p.Thr236Ala)
NM_022051.3(EGLN1):c.707C>T (p.Thr236Met)
NM_022051.3(EGLN1):c.709G>C (p.Asp237His)
NM_022051.3(EGLN1):c.711C>T (p.Asp237=)
NM_022051.3(EGLN1):c.714G>A (p.Gly238=)
NM_022051.3(EGLN1):c.718C>T (p.Leu240=)
NM_022051.3(EGLN1):c.723C>G (p.Val241=)
NM_022051.3(EGLN1):c.723C>T (p.Val241=)
NM_022051.3(EGLN1):c.729G>A (p.Gln243=)
NM_022051.3(EGLN1):c.733A>G (p.Ser245Gly)
NM_022051.3(EGLN1):c.734G>A (p.Ser245Asn)
NM_022051.3(EGLN1):c.735T>C (p.Ser245=)
NM_022051.3(EGLN1):c.738C>G (p.Asp246Glu)
NM_022051.3(EGLN1):c.738C>T (p.Asp246=)
NM_022051.3(EGLN1):c.739T>G (p.Ser247Ala) rs886046109
NM_022051.3(EGLN1):c.73G>A (p.Gly25Arg)
NM_022051.3(EGLN1):c.740C>G (p.Ser247Trp)
NM_022051.3(EGLN1):c.741G>C (p.Ser247=)
NM_022051.3(EGLN1):c.742T>C (p.Ser248Pro)
NM_022051.3(EGLN1):c.744C>A (p.Ser248=)
NM_022051.3(EGLN1):c.744C>T (p.Ser248=)
NM_022051.3(EGLN1):c.746A>G (p.Lys249Arg)
NM_022051.3(EGLN1):c.748G>A (p.Asp250Asn)
NM_022051.3(EGLN1):c.750C>T (p.Asp250=)
NM_022051.3(EGLN1):c.756A>C (p.Arg252=)
NM_022051.3(EGLN1):c.756A>G (p.Arg252=)
NM_022051.3(EGLN1):c.757G>A (p.Gly253Ser)
NM_022051.3(EGLN1):c.75G>A (p.Gly25=)
NM_022051.3(EGLN1):c.762T>C (p.Asp254=)
NM_022051.3(EGLN1):c.765G>A (p.Lys255=)
NM_022051.3(EGLN1):c.768C>T (p.Ile256=)
NM_022051.3(EGLN1):c.770C>G (p.Thr257Ser)
NM_022051.3(EGLN1):c.770C>T (p.Thr257Ile)
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.77A>C (p.Lys26Thr)
NM_022051.3(EGLN1):c.78G>A (p.Lys26=)
NM_022051.3(EGLN1):c.79A>T (p.Met27Leu)
NM_022051.3(EGLN1):c.7A>G (p.Asn3Asp)
NM_022051.3(EGLN1):c.80T>C (p.Met27Thr)
NM_022051.3(EGLN1):c.84G>A (p.Glu28=)
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.902C>T (p.Ala301Val)
NM_022051.3(EGLN1):c.903T>C (p.Ala301=)
NM_022051.3(EGLN1):c.908A>T (p.Tyr303Phe)
NM_022051.3(EGLN1):c.909T>C (p.Tyr303=) rs2102898250
NM_022051.3(EGLN1):c.90G>A (p.Leu30=)
NM_022051.3(EGLN1):c.911C>T (p.Pro304Leu)
NM_022051.3(EGLN1):c.912G>A (p.Pro304=)
NM_022051.3(EGLN1):c.918T>C (p.Asn306=)
NM_022051.3(EGLN1):c.919G>A (p.Gly307Arg)
NM_022051.3(EGLN1):c.923C>T (p.Thr308Met)
NM_022051.3(EGLN1):c.927T>A (p.Gly309=)
NM_022051.3(EGLN1):c.93G>A (p.Leu31=)
NM_022051.3(EGLN1):c.942T>C (p.Val314=)
NM_022051.3(EGLN1):c.94C>A (p.Arg32Ser)
NM_022051.3(EGLN1):c.94C>T (p.Arg32Cys)
NM_022051.3(EGLN1):c.950C>G (p.Pro317Arg) rs80358193
NM_022051.3(EGLN1):c.954T>C (p.Asn318=)
NM_022051.3(EGLN1):c.955G>A (p.Gly319Arg)
NM_022051.3(EGLN1):c.960T>C (p.Asp320=)
NM_022051.3(EGLN1):c.961G>A (p.Gly321Arg)
NM_022051.3(EGLN1):c.96C>T (p.Arg32=)
NM_022051.3(EGLN1):c.970G>A (p.Val324Met)
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.977G>A (p.Cys326Tyr)
NM_022051.3(EGLN1):c.980T>C (p.Ile327Thr) rs2102898186
NM_022051.3(EGLN1):c.990T>A (p.Leu330=)
NM_022051.3(EGLN1):c.993T>C (p.Asn331=)
NM_022051.3(EGLN1):c.996A>T (p.Lys332Asn)
NM_022051.3(EGLN1):c.997G>T (p.Asp333Tyr)
NM_022051.3(EGLN1):c.999C>G (p.Asp333Glu)
NM_022051.3(EGLN1):c.99C>T (p.Cys33=)
NM_022051.3(EGLN1):c.9T>C (p.Asn3=)
NM_022051.3(EGLN1):c.9T>G (p.Asn3Lys)

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