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)
|
|
|