NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser)
|
rs12097901
|
0.15191
|
NM_022051.3(EGLN1):c.471G>C (p.Gln157His)
|
rs61750991
|
0.01830
|
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.1272C>T (p.Asp424=)
|
rs61734647
|
0.00188
|
NM_022051.3(EGLN1):c.311C>T (p.Ser104Phe)
|
rs551207815
|
0.00113
|
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu)
|
rs186996510
|
0.00079
|
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_022051.3(EGLN1):c.120C>T (p.Phe40=)
|
rs555121182
|
0.00029
|
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu)
|
rs796280222
|
0.00026
|
NM_022051.3(EGLN1):c.924G>A (p.Thr308=)
|
rs201523464
|
0.00019
|
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn)
|
rs201365992
|
0.00018
|
NM_022051.3(EGLN1):c.354C>T (p.Ala118=)
|
rs1370030808
|
0.00016
|
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_022051.3(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_022051.3(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_022051.3(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_022051.3(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.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_022051.3(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_022051.3(EGLN1):c.*68G>A
|
|
|
NM_022051.3(EGLN1):c.*92G>C
|
|
|
NM_022051.3(EGLN1):c.1008C>T (p.Ala336=)
|
|
|
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.1119T>A (p.Pro373=)
|
rs756264599
|
|
NM_022051.3(EGLN1):c.111C>T (p.Arg37=)
|
|
|
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.1217-7C>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.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
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NM_022051.3(EGLN1):c.346C>A (p.Pro116Thr)
|
rs944307657
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NM_022051.3(EGLN1):c.347C>T (p.Pro116Leu)
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NM_022051.3(EGLN1):c.349C>T (p.Pro117Ser)
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NM_022051.3(EGLN1):c.351G>A (p.Pro117=)
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NM_022051.3(EGLN1):c.352G>T (p.Ala118Ser)
|
rs1656606563
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NM_022051.3(EGLN1):c.353C>A (p.Ala118Asp)
|
rs1357444347
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NM_022051.3(EGLN1):c.362C>G (p.Ala121Gly)
|
rs1312410428
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NM_022051.3(EGLN1):c.366G>C (p.Ala122=)
|
rs1352596858
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NM_022051.3(EGLN1):c.366_389del (p.Ala124_Ala131del)
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NM_022051.3(EGLN1):c.366_389dup (p.Ala124_Ala131dup)
|
rs1470968362
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NM_022051.3(EGLN1):c.372_392del (p.Ser125_Ala131del)
|
rs1448568741
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NM_022051.3(EGLN1):c.37C>G (p.Pro13Ala)
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NM_022051.3(EGLN1):c.382C>A (p.Arg128Ser)
|
rs756094298
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NM_022051.3(EGLN1):c.382C>G (p.Arg128Gly)
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NM_022051.3(EGLN1):c.382C>T (p.Arg128Cys)
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NM_022051.3(EGLN1):c.387G>C (p.Ala129=)
|
rs2102947714
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NM_022051.3(EGLN1):c.3G>T (p.Met1Ile)
|
rs1308120626
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NM_022051.3(EGLN1):c.404G>A (p.Gly135Asp)
|
rs1176313181
|
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NM_022051.3(EGLN1):c.408G>A (p.Ser136=)
|
rs2102947668
|
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NM_022051.3(EGLN1):c.413T>C (p.Val138Ala)
|
rs1408448213
|
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NM_022051.3(EGLN1):c.413T>G (p.Val138Gly)
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NM_022051.3(EGLN1):c.415G>A (p.Ala139Thr)
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NM_022051.3(EGLN1):c.416C>T (p.Ala139Val)
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NM_022051.3(EGLN1):c.424G>A (p.Ala142Thr)
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NM_022051.3(EGLN1):c.425C>G (p.Ala142Gly)
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NM_022051.3(EGLN1):c.428A>T (p.Glu143Val)
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NM_022051.3(EGLN1):c.430C>G (p.Pro144Ala)
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NM_022051.3(EGLN1):c.432C>T (p.Pro144=)
|
rs886046110
|
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NM_022051.3(EGLN1):c.433G>C (p.Gly145Arg)
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NM_022051.3(EGLN1):c.436A>C (p.Lys146Gln)
|
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NM_022051.3(EGLN1):c.438G>A (p.Lys146=)
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NM_022051.3(EGLN1):c.440A>G (p.Glu147Gly)
|
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NM_022051.3(EGLN1):c.447G>A (p.Pro149=)
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NM_022051.3(EGLN1):c.449C>T (p.Pro150Leu)
|
rs758337994
|
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NM_022051.3(EGLN1):c.453C>G (p.Ala151=)
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NM_022051.3(EGLN1):c.453C>T (p.Ala151=)
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NM_022051.3(EGLN1):c.454C>A (p.Arg152Ser)
|
rs1200860908
|
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NM_022051.3(EGLN1):c.454C>G (p.Arg152Gly)
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NM_022051.3(EGLN1):c.454C>T (p.Arg152Cys)
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NM_022051.3(EGLN1):c.458C>T (p.Ser153Leu)
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NM_022051.3(EGLN1):c.471G>A (p.Gln157=)
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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=)
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NM_022051.3(EGLN1):c.487T>G (p.Tyr163Asp)
|
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|
NM_022051.3(EGLN1):c.490C>A (p.Pro164Thr)
|
rs1407678909
|
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NM_022051.3(EGLN1):c.490C>T (p.Pro164Ser)
|
|
|
NM_022051.3(EGLN1):c.493C>A (p.Pro165Thr)
|
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NM_022051.3(EGLN1):c.493C>G (p.Pro165Ala)
|
rs200502960
|
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NM_022051.3(EGLN1):c.494del (p.Pro165fs)
|
|
|
NM_022051.3(EGLN1):c.496A>G (p.Ser166Gly)
|
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NM_022051.3(EGLN1):c.503C>T (p.Thr168Met)
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NM_022051.3(EGLN1):c.508G>C (p.Gly170Arg)
|
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NM_022051.3(EGLN1):c.517C>T (p.Leu173=)
|
rs1656589017
|
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NM_022051.3(EGLN1):c.520A>T (p.Ser174Cys)
|
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NM_022051.3(EGLN1):c.530G>A (p.Gly177Asp)
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NM_022051.3(EGLN1):c.538C>T (p.Arg180Trp)
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NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln)
|
rs886046112
|
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NM_022051.3(EGLN1):c.541C>T (p.Pro181Ser)
|
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NM_022051.3(EGLN1):c.543C>G (p.Pro181=)
|
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NM_022051.3(EGLN1):c.546C>G (p.Asn182Lys)
|
rs1258825907
|
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NM_022051.3(EGLN1):c.561C>T (p.Pro187=)
|
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NM_022051.3(EGLN1):c.566C>T (p.Pro189Leu)
|
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NM_022051.3(EGLN1):c.568_569delinsTT (p.Ala190Leu)
|
rs1558086261
|
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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=)
|
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|
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
|
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NM_022051.3(EGLN1):c.599C>G (p.Pro200Arg)
|
|
|
NM_022051.3(EGLN1):c.612G>A (p.Lys204=)
|
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NM_022051.3(EGLN1):c.618C>A (p.Gly206=)
|
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NM_022051.3(EGLN1):c.63C>T (p.Cys21=)
|
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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.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
|
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|
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.980T>C (p.Ile327Thr)
|
rs2102898186
|
|
NM_022051.3(EGLN1):c.993T>C (p.Asn331=)
|
|
|
NM_022051.3(EGLN1):c.9T>G (p.Asn3Lys)
|
|
|