NM_001358263.1(HK1):c.75+5174A>G
|
rs906220
|
0.89921
|
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys)
|
rs4760682
|
0.86945
|
NM_000188.3(HK1):c.1443G>A (p.Lys481=)
|
rs748235
|
0.80224
|
NM_000289.6(PFKM):c.1880+27A>G
|
rs4075913
|
0.78311
|
NM_000188.3(HK1):c.1839+31G>A
|
rs749105
|
0.70672
|
NM_001360016.2(G6PD):c.1365-13C>T
|
rs2071429
|
0.63462
|
NM_000188.3(HK1):c.2219+27T>C
|
rs2278745
|
0.56586
|
NM_001365304.2(LOC112694756):c.*489-63G>C
|
rs9783783
|
0.52268
|
NM_000375.3(UROS):c.561+19C>T
|
rs2281954
|
0.43234
|
NM_000375.3(UROS):c.562-26C>T
|
rs3740179
|
0.43206
|
NM_000375.3(UROS):c.-219C>A
|
rs4385801
|
0.41780
|
NM_000375.3(UROS):c.-185G>A
|
rs4256900
|
0.41165
|
NM_001360016.2(G6PD):c.*357=
|
rs1050757
|
0.36655
|
G6PD:c.1455-13T>C
|
rs2071429
|
0.36538
|
NM_000188.3(HK1):c.78C>G (p.Leu26=)
|
rs1133189
|
0.36523
|
NM_020897.3(HCN3):c.*1069C>T
|
rs8847
|
0.35054
|
NM_000298.6(PKLR):c.*267C>T
|
rs932972
|
0.35051
|
NM_000298.6(PKLR):c.1705C>A (p.Arg569=)
|
rs1052176
|
0.35034
|
NM_000289.5(PFKM):c.-112T>G
|
rs12306290
|
0.29895
|
NM_000289.6(PFKM):c.428-39G>A
|
rs2269933
|
0.29774
|
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)
|
rs8716
|
0.28514
|
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)
|
rs11609399
|
0.21767
|
NM_000289.6(PFKM):c.639-85T>C
|
rs2286020
|
0.19143
|
NM_000289.6(PFKM):c.516C>T (p.Thr172=)
|
rs1049392
|
0.18973
|
NM_000289.6(PFKM):c.2093-14A>G
|
rs11168427
|
0.16418
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
NM_000289.6(PFKM):c.-8-86G>T
|
rs2269935
|
0.16268
|
NM_000175.5(GPI):c.489A>G (p.Gly163=)
|
rs1801015
|
0.14862
|
NM_001042351.2(G6PD):c.-111A>G
|
rs111827785
|
0.14433
|
NM_001365304.2(LOC112694756):c.*1508+17G>T
|
rs2071390
|
0.13976
|
NM_001360016.2(G6PD):c.121-135A>G
|
rs762515
|
0.10367
|
NM_001159287.1(TPI1):c.69A>G (p.Arg23=)
|
rs1800200
|
0.09809
|
NM_000175.5(GPI):c.762G>A (p.Lys254=)
|
rs1864139
|
0.09803
|
NM_001360016.2(G6PD):c.864+163C>T
|
rs5986990
|
0.09646
|
NM_000365.6(TPI1):c.*420T>C
|
rs58194764
|
0.08694
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000289.6(PFKM):c.427+52G>A
|
rs41291961
|
0.06210
|
NM_000289.5(PFKM):c.-171C>A
|
rs41291959
|
0.06201
|
NM_000289.6(PFKM):c.246G>A (p.Thr82=)
|
rs2228501
|
0.06196
|
NM_000289.6(PFKM):c.1880+32G>C
|
rs4075914
|
0.06152
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001159287.1(TPI1):c.66G>A (p.Pro22=)
|
rs1800201
|
0.03488
|
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)
|
rs2230036
|
0.03373
|
NM_000365.6(TPI1):c.544-10C>G
|
rs115061797
|
0.02638
|
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)
|
rs77214077
|
0.02424
|
NM_000365.6(TPI1):c.631+13G>A
|
rs60115912
|
0.02344
|
NM_000175.5(GPI):c.122+20G>A
|
rs8191360
|
0.02067
|
NM_000289.6(PFKM):c.1500+32C>T
|
rs41291967
|
0.02028
|
NM_000289.6(PFKM):c.237+73G>T
|
rs78042191
|
0.01997
|
NM_000289.6(PFKM):c.1342-14G>T
|
rs56117548
|
0.01990
|
NM_000289.6(PFKM):c.306C>T (p.Ala102=)
|
rs11552507
|
0.01954
|
NM_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01704
|
NM_000175.5(GPI):c.948C>A (p.Ala316=)
|
rs8191416
|
0.01510
|
NM_000175.5(GPI):c.623T>C (p.Ile208Thr)
|
rs8191371
|
0.01437
|
NM_000365.6(TPI1):c.544-14G>A
|
rs72661109
|
0.01198
|
NM_000375.3(UROS):c.-31G>T
|
rs73381212
|
0.01190
|
NM_000365.6(TPI1):c.*341C>T
|
rs1804544
|
0.01157
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)
|
rs77290575
|
0.01088
|
NM_001360016.2(G6PD):c.645-17C>T
|
rs5986875
|
0.00915
|
NM_000289.6(PFKM):c.*282C>T
|
rs8977
|
0.00906
|
NM_001365304.2(LOC112694756):c.*889-16C>A
|
rs78124282
|
0.00797
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_020897.3(HCN3):c.*1216A>C
|
rs41264939
|
0.00637
|
NM_000365.6(TPI1):c.*39G>A
|
rs12692
|
0.00504
|
NM_000375.3(UROS):c.*37G>T
|
rs372132511
|
0.00489
|
NM_000365.6(TPI1):c.600G>A (p.Ala200=)
|
rs61747602
|
0.00452
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000375.3(UROS):c.63+8G>A
|
rs17153575
|
0.00410
|
NM_000375.3(UROS):c.338A>T (p.Asp113Val)
|
rs117926090
|
0.00376
|
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)
|
rs76767223
|
0.00362
|
NM_000289.6(PFKM):c.*411G>A
|
rs79507126
|
0.00345
|
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg)
|
rs1800202
|
0.00329
|
NM_000298.6(PKLR):c.181C>T (p.Leu61=)
|
rs8177962
|
0.00289
|
NM_001365304.2(LOC112694756):c.*1740C>T
|
rs191226606
|
0.00274
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)
|
rs145040928
|
0.00243
|
NM_000365.6(TPI1):c.*549A>G
|
rs114310136
|
0.00243
|
NM_000375.3(UROS):c.27G>A (p.Ala9=)
|
rs150059279
|
0.00225
|
NM_000289.6(PFKM):c.2199-12A>G
|
rs202008060
|
0.00204
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr)
|
rs781949460
|
0.00200
|
NM_000289.6(PFKM):c.702A>T (p.Pro234=)
|
rs138022863
|
0.00185
|
NM_000289.6(PFKM):c.1500+29C>T
|
rs138256599
|
0.00183
|
NM_000298.6(PKLR):c.*14C>T
|
rs8177994
|
0.00166
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_000289.5(PFKM):c.-177G>C
|
rs78512814
|
0.00162
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr)
|
rs549433538
|
0.00139
|
NM_000365.6(TPI1):c.*219C>T
|
rs376899563
|
0.00127
|
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)
|
rs112110009
|
0.00124
|
NM_000175.5(GPI):c.987C>T (p.Asn329=)
|
rs140676743
|
0.00123
|
NM_020897.3(HCN3):c.*1042A>G
|
rs559809916
|
0.00122
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_000365.6(TPI1):c.463G>A (p.Val155Met)
|
rs188138723
|
0.00118
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_000365.6(TPI1):c.321T>C (p.Asp107=)
|
rs141972556
|
0.00104
|
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
|
rs149190846
|
0.00102
|
NM_000375.3(UROS):c.-136C>T
|
rs539482783
|
0.00096
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
NM_000375.3(UROS):c.475+14T>A
|
rs17425877
|
0.00091
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_001360016.2(G6PD):c.311G>A (p.Arg104His)
|
rs181277621
|
0.00081
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_000365.6(TPI1):c.-31C>T
|
rs200692430
|
0.00076
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_001365304.2(LOC112694756):c.*1134-20G>A
|
rs75559164
|
0.00071
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00067
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala)
|
rs201838518
|
0.00062
|
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)
|
rs147131392
|
0.00062
|
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=)
|
rs142231603
|
0.00058
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
|
rs370424471
|
0.00048
|
NM_000375.3(UROS):c.*96G>A
|
rs182303293
|
0.00048
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_000289.6(PFKM):c.495T>A (p.Ile165=)
|
rs148858610
|
0.00046
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=)
|
rs143419532
|
0.00046
|
NM_000298.6(PKLR):c.-26C>T
|
rs200181342
|
0.00045
|
NM_000289.6(PFKM):c.*622G>A
|
rs568063197
|
0.00043
|
NM_000375.3(UROS):c.*178G>A
|
rs569628154
|
0.00041
|
NM_000298.6(PKLR):c.1686C>T (p.Ser562=)
|
rs140859641
|
0.00040
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000298.6(PKLR):c.*582G>A
|
rs758139094
|
0.00036
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
NM_000375.3(UROS):c.*99A>G
|
rs886046814
|
0.00032
|
NM_000289.5(PFKM):c.-174G>A
|
rs765876195
|
0.00031
|
NM_000289.6(PFKM):c.1611C>T (p.Asp537=)
|
rs764961084
|
0.00031
|
NM_000365.6(TPI1):c.*388C>T
|
rs540279409
|
0.00031
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
NM_000175.5(GPI):c.317G>A (p.Arg106Gln)
|
rs143827313
|
0.00029
|
NM_000375.3(UROS):c.106T>G (p.Leu36Val)
|
rs200858139
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000298.6(PKLR):c.6G>A (p.Ser2=)
|
rs139697646
|
0.00026
|
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)
|
rs374042346
|
0.00025
|
NM_001360016.2(G6PD):c.1052-4G>A
|
rs372124193
|
0.00025
|
NM_001365304.2(LOC112694756):c.*1309-20G>A
|
rs189723657
|
0.00025
|
NM_000375.3(UROS):c.740C>T (p.Thr247Met)
|
rs199925121
|
0.00024
|
NM_001365304.2(LOC112694756):c.*1700C>T
|
rs886051897
|
0.00024
|
NM_000175.5(GPI):c.1497C>T (p.Phe499=)
|
rs138799755
|
0.00023
|
NM_000289.6(PFKM):c.*452T>C
|
rs563335260
|
0.00022
|
NM_000289.6(PFKM):c.1653+8C>T
|
rs369425921
|
0.00022
|
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
|
rs141570669
|
0.00022
|
NM_000298.6(PKLR):c.965+12G>A
|
rs200039500
|
0.00022
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=)
|
rs111252736
|
0.00022
|
NM_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
NM_000289.6(PFKM):c.52A>G (p.Ile18Val)
|
rs150405056
|
0.00020
|
NM_001360016.2(G6PD):c.486-14C>T
|
rs200833520
|
0.00020
|
NM_000298.6(PKLR):c.*499G>A
|
rs777573500
|
0.00019
|
NM_000365.6(TPI1):c.116-12T>C
|
rs369077745
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=)
|
rs772550893
|
0.00019
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
NM_020897.3(HCN3):c.*1243A>G
|
rs886045347
|
0.00019
|
NM_000175.5(GPI):c.1270-9G>A
|
rs191051353
|
0.00018
|
NM_000289.6(PFKM):c.844-17T>A
|
rs372870462
|
0.00018
|
NM_000365.6(TPI1):c.*178G>A
|
rs144171030
|
0.00018
|
NM_001360016.2(G6PD):c.381C>T (p.Ala127=)
|
rs781997962
|
0.00017
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)
|
rs144693278
|
0.00016
|
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His)
|
rs368832453
|
0.00016
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_001365304.2(LOC112694756):c.*1308+12A>G
|
rs200733968
|
0.00014
|
NM_020897.3(HCN3):c.*1374T>C
|
rs180944719
|
0.00014
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000365.6(TPI1):c.543+6C>T
|
rs369693539
|
0.00013
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)
|
rs201794043
|
0.00013
|
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile)
|
rs782130334
|
0.00013
|
NM_001360016.2(G6PD):c.738C>T (p.Arg246=)
|
rs144341068
|
0.00013
|
NM_001365304.2(LOC112694756):c.*1680C>T
|
rs886051896
|
0.00013
|
NM_020897.3(HCN3):c.*1068G>A
|
rs528740550
|
0.00013
|
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)
|
rs774921979
|
0.00012
|
NM_000298.6(PKLR):c.1117-13C>T
|
rs145132664
|
0.00012
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_001360016.2(G6PD):c.1458-12G>A
|
rs369024848
|
0.00012
|
NM_000289.6(PFKM):c.*3C>T
|
rs367783282
|
0.00011
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)
|
rs141550921
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
NM_001360016.2(G6PD):c.121-20A>T
|
rs782444702
|
0.00011
|
NM_000289.6(PFKM):c.-17G>C
|
rs952485517
|
0.00010
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00010
|
NM_000365.6(TPI1):c.-11G>A
|
rs199634350
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_001360016.2(G6PD):c.519C>T (p.Phe173=)
|
rs200111236
|
0.00010
|
NM_001360016.2(G6PD):c.957C>T (p.Thr319=)
|
rs199702562
|
0.00010
|
NM_001360016.2(G6PD):c.990C>T (p.Arg330=)
|
rs782064465
|
0.00010
|
NM_001365304.2(LOC112694756):c.*1676T>G
|
rs886051895
|
0.00010
|
NM_000289.6(PFKM):c.2040C>T (p.Gly680=)
|
rs369893708
|
0.00009
|
NM_000289.6(PFKM):c.597C>T (p.His199=)
|
rs554169766
|
0.00009
|
NM_000289.6(PFKM):c.747+10C>T
|
rs1372921221
|
0.00009
|
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)
|
rs782065240
|
0.00009
|
NM_001365304.2(LOC112694756):c.*1705G>A
|
rs539833998
|
0.00009
|
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)
|
rs146318448
|
0.00008
|
NM_000289.6(PFKM):c.1501-15C>T
|
rs756212415
|
0.00008
|
NM_000289.6(PFKM):c.1992+5G>A
|
rs180864041
|
0.00008
|
NM_000365.6(TPI1):c.*519T>C
|
rs377186570
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_001360016.2(G6PD):c.1051+16G>A
|
rs782637386
|
0.00008
|
NM_001360016.2(G6PD):c.120+7A>C
|
rs369904290
|
0.00008
|
NM_001360016.2(G6PD):c.1287+3G>C
|
rs782786750
|
0.00008
|
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=)
|
rs369482861
|
0.00008
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
NM_000289.6(PFKM):c.594-18T>A
|
rs372899080
|
0.00007
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile)
|
rs368207656
|
0.00007
|
NM_001360016.2(G6PD):c.1052-19T>C
|
rs782238350
|
0.00007
|
NM_000175.5(GPI):c.1325C>T (p.Thr442Met)
|
rs758328180
|
0.00006
|
NM_000289.6(PFKM):c.1060G>A (p.Val354Met)
|
rs930337550
|
0.00006
|
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val)
|
rs950246136
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000289.6(PFKM):c.238-17T>A
|
rs377146498
|
0.00006
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
NM_000365.6(TPI1):c.*253G>T
|
rs782730165
|
0.00006
|
NM_000375.3(UROS):c.-232G>A
|
rs886046815
|
0.00006
|
NM_000375.3(UROS):c.63+1G>A
|
rs373864821
|
0.00006
|
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)
|
rs121908020
|
0.00006
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu)
|
rs747788394
|
0.00006
|
NM_001360016.2(G6PD):c.1014A>G (p.Ala338=)
|
rs1401465965
|
0.00006
|
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)
|
rs782174983
|
0.00006
|
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=)
|
rs186843026
|
0.00006
|
NM_001360016.2(G6PD):c.795G>A (p.Leu265=)
|
rs374222477
|
0.00006
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000289.6(PFKM):c.1127+13C>T
|
rs376042142
|
0.00005
|
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
|
rs1203272613
|
0.00005
|
NM_000289.6(PFKM):c.1476C>T (p.Gly492=)
|
rs200847712
|
0.00005
|
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=)
|
rs745739278
|
0.00005
|
NM_000289.6(PFKM):c.2253C>A (p.Ile751=)
|
rs370779782
|
0.00005
|
NM_000289.6(PFKM):c.327G>A (p.Gly109=)
|
rs751902983
|
0.00005
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
|
rs374805791
|
0.00005
|
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
|
rs774192277
|
0.00005
|
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=)
|
rs532473202
|
0.00005
|
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)
|
rs146976414
|
0.00005
|
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=)
|
rs150741747
|
0.00005
|
NM_001360016.2(G6PD):c.1065C>T (p.Ile355=)
|
rs1557229753
|
0.00005
|
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=)
|
rs781798712
|
0.00005
|
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)
|
rs782422580
|
0.00005
|
NM_001360016.2(G6PD):c.207C>T (p.Gly69=)
|
rs782770344
|
0.00005
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
NM_001360016.2(G6PD):c.690C>T (p.Ile230=)
|
rs781917123
|
0.00005
|
NM_001360016.2(G6PD):c.696C>T (p.Cys232=)
|
rs782061495
|
0.00005
|
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)
|
rs781948754
|
0.00005
|
NM_001360016.2(G6PD):c.865-16C>T
|
rs199970830
|
0.00005
|
NM_001360016.2(G6PD):c.972C>T (p.Asp324=)
|
rs782534709
|
0.00005
|
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys)
|
rs758132799
|
0.00004
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00004
|
NM_000175.5(GPI):c.286C>T (p.Arg96Ter)
|
rs781245249
|
0.00004
|
NM_000289.6(PFKM):c.1044C>G (p.Leu348=)
|
rs749882480
|
0.00004
|
NM_000289.6(PFKM):c.1063-18G>A
|
rs531023136
|
0.00004
|
NM_000289.6(PFKM):c.1063-19C>T
|
rs772630501
|
0.00004
|
NM_000289.6(PFKM):c.1320C>T (p.Phe440=)
|
rs540444775
|
0.00004
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
|
rs771733776
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
|
rs772301967
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
NM_000298.6(PKLR):c.*342C>T
|
rs879040355
|
0.00004
|
NM_000298.6(PKLR):c.*346_*348del
|
rs556763356
|
0.00004
|
NM_000298.6(PKLR):c.1436G>A (p.Arg479His)
|
rs118204085
|
0.00004
|
NM_000365.6(TPI1):c.261C>T (p.Cys87=)
|
rs370863694
|
0.00004
|
NM_000365.6(TPI1):c.690C>T (p.Phe230=)
|
rs782267337
|
0.00004
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=)
|
rs751360534
|
0.00004
|
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=)
|
rs765883841
|
0.00004
|
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His)
|
rs534264493
|
0.00004
|
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=)
|
rs148503847
|
0.00004
|
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)
|
rs201658390
|
0.00004
|
NM_001360016.2(G6PD):c.121-13C>T
|
rs782558415
|
0.00004
|
NM_001360016.2(G6PD):c.1287+18A>G
|
rs782133149
|
0.00004
|
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)
|
rs138919671
|
0.00004
|
NM_001360016.2(G6PD):c.268-11G>A
|
rs781983059
|
0.00004
|
NM_001360016.2(G6PD):c.435C>T (p.Thr145=)
|
rs1451145498
|
0.00004
|
NM_001360016.2(G6PD):c.771-8G>A
|
rs368790003
|
0.00004
|
NM_001360016.2(G6PD):c.813G>A (p.Val271=)
|
rs782732134
|
0.00004
|
NM_001365304.2(LOC112694756):c.*1508+8T>C
|
rs751467136
|
0.00004
|
NM_000175.5(GPI):c.-9A>G
|
rs552574934
|
0.00003
|
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)
|
rs137853582
|
0.00003
|
NM_000289.6(PFKM):c.*668G>T
|
rs535423254
|
0.00003
|
NM_000289.6(PFKM):c.1127+10T>C
|
rs759084382
|
0.00003
|
NM_000289.6(PFKM):c.1158G>A (p.Lys386=)
|
rs1216904332
|
0.00003
|
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile)
|
rs774425888
|
0.00003
|
NM_000289.6(PFKM):c.1311T>C (p.His437=)
|
rs369182995
|
0.00003
|
NM_000289.6(PFKM):c.1413-20C>T
|
rs771066629
|
0.00003
|
NM_000289.6(PFKM):c.2092+17C>T
|
rs773403779
|
0.00003
|
NM_000289.6(PFKM):c.2092+9G>T
|
rs371778846
|
0.00003
|
NM_000289.6(PFKM):c.2233C>T (p.Leu745=)
|
rs771535478
|
0.00003
|
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=)
|
rs374418157
|
0.00003
|
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser)
|
rs143485300
|
0.00003
|
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)
|
rs756549612
|
0.00003
|
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
|
rs142238268
|
0.00003
|
NM_000298.6(PKLR):c.790C>T (p.Leu264=)
|
rs199959447
|
0.00003
|
NM_000298.6(PKLR):c.918C>A (p.His306Gln)
|
rs141571402
|
0.00003
|
NM_000365.6(TPI1):c.*260G>A
|
rs782764628
|
0.00003
|
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
|
rs139532537
|
0.00003
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00003
|
NM_000365.6(TPI1):c.730A>G (p.Ile244Val)
|
rs143000041
|
0.00003
|
NM_000375.3(UROS):c.10C>T (p.Leu4Phe)
|
rs121908015
|
0.00003
|
NM_000375.3(UROS):c.661-31T>G
|
rs750180293
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)
|
rs148828956
|
0.00003
|
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)
|
rs773402743
|
0.00003
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
0.00003
|
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)
|
rs886051893
|
0.00003
|
NM_001243177.4(ALDOA):c.945G>C (p.Val315=)
|
rs780658545
|
0.00003
|
NM_001360016.2(G6PD):c.1023C>T (p.Val341=)
|
rs201321423
|
0.00003
|
NM_001360016.2(G6PD):c.1051+11C>G
|
rs1258960910
|
0.00003
|
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=)
|
rs368898047
|
0.00003
|
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=)
|
rs782432107
|
0.00003
|
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=)
|
rs370808115
|
0.00003
|
NM_001360016.2(G6PD):c.1365-7C>T
|
rs1168711308
|
0.00003
|
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=)
|
rs1230419397
|
0.00003
|
NM_001360016.2(G6PD):c.158+13C>T
|
rs990745079
|
0.00003
|
NM_001360016.2(G6PD):c.644+20G>A
|
rs782108377
|
0.00003
|
NM_001360016.2(G6PD):c.645-7C>T
|
rs782468778
|
0.00003
|
NM_001360016.2(G6PD):c.864+14C>T
|
rs782416820
|
0.00003
|
NM_001360016.2(G6PD):c.864+5G>A
|
rs372876649
|
0.00003
|
NM_001365304.2(LOC112694756):c.*834-9C>T
|
rs1057523259
|
0.00003
|
NM_020897.3(HCN3):c.*1004C>T
|
rs937795186
|
0.00003
|
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg)
|
rs267606851
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
|
rs375592512
|
0.00002
|
NM_000289.6(PFKM):c.1128-4A>G
|
rs570665595
|
0.00002
|
NM_000289.6(PFKM):c.1191+6G>T
|
rs779486374
|
0.00002
|
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)
|
rs746775189
|
0.00002
|
NM_000289.6(PFKM):c.1308C>G (p.Val436=)
|
rs779395140
|
0.00002
|
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
|
rs748718049
|
0.00002
|
NM_000289.6(PFKM):c.1464T>C (p.Phe488=)
|
rs374814413
|
0.00002
|
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
|
rs753681797
|
0.00002
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys)
|
rs763839998
|
0.00002
|
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)
|
rs199528011
|
0.00002
|
NM_000289.6(PFKM):c.2097G>C (p.Arg699=)
|
rs776783895
|
0.00002
|
NM_000289.6(PFKM):c.2176C>T (p.Leu726=)
|
rs761487239
|
0.00002
|
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
|
rs748647298
|
0.00002
|
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp)
|
rs757746489
|
0.00002
|
NM_000289.6(PFKM):c.471C>T (p.Asn157=)
|
rs1223915629
|
0.00002
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
0.00002
|
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr)
|
rs576835893
|
0.00002
|
NM_000289.6(PFKM):c.834C>T (p.Asp278=)
|
rs776432077
|
0.00002
|
NM_000289.6(PFKM):c.912G>A (p.Thr304=)
|
rs764516934
|
0.00002
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)
|
rs201953584
|
0.00002
|
NM_000298.6(PKLR):c.909G>C (p.Pro303=)
|
rs200840994
|
0.00002
|
NM_000365.6(TPI1):c.116-13A>G
|
rs782238701
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000375.3(UROS):c.*24A>G
|
rs760003189
|
0.00002
|
NM_000375.3(UROS):c.-134C>A
|
rs985442867
|
0.00002
|
NM_000375.3(UROS):c.691G>A (p.Ala231Thr)
|
rs780837512
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
|
rs570385246
|
0.00002
|
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=)
|
rs145811469
|
0.00002
|
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=)
|
rs769378422
|
0.00002
|
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)
|
rs758499704
|
0.00002
|
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn)
|
rs1455309434
|
0.00002
|
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=)
|
rs1440647556
|
0.00002
|
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=)
|
rs1166552162
|
0.00002
|
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)
|
rs782623392
|
0.00002
|
NM_001360016.2(G6PD):c.1287+19G>A
|
rs781980305
|
0.00002
|
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=)
|
rs1557229582
|
0.00002
|
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=)
|
rs782170250
|
0.00002
|
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=)
|
rs781829860
|
0.00002
|
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=)
|
rs377659103
|
0.00002
|
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=)
|
rs782797399
|
0.00002
|
NM_001360016.2(G6PD):c.1457+19C>T
|
rs1557229460
|
0.00002
|
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=)
|
rs782206043
|
0.00002
|
NM_001360016.2(G6PD):c.186C>T (p.Pro62=)
|
rs781875587
|
0.00002
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys)
|
rs781848254
|
0.00002
|
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu)
|
rs781794862
|
0.00002
|
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=)
|
rs1307320948
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=)
|
rs375189502
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001360016.2(G6PD):c.564C>T (p.Ser188=)
|
rs200626353
|
0.00002
|
NM_001360016.2(G6PD):c.597C>T (p.Ile199=)
|
rs369516039
|
0.00002
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
NM_001360016.2(G6PD):c.708C>T (p.Thr236=)
|
rs782118135
|
0.00002
|
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
|
rs140496395
|
0.00002
|
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys)
|
rs782216807
|
0.00002
|
NM_001360016.2(G6PD):c.771-11T>C
|
rs782622284
|
0.00002
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)
|
rs1238884216
|
0.00001
|
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
|
rs552424309
|
0.00001
|
NM_000175.5(GPI):c.14C>T (p.Thr5Ile)
|
rs267606852
|
0.00001
|
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)
|
rs137853584
|
0.00001
|
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr)
|
rs547475819
|
0.00001
|
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu)
|
rs933668811
|
0.00001
|
NM_000175.5(GPI):c.301G>A (p.Val101Met)
|
rs757341382
|
0.00001
|
NM_000175.5(GPI):c.572A>G (p.His191Arg)
|
rs758281551
|
0.00001
|
NM_000175.5(GPI):c.640A>G (p.Thr214Ala)
|
rs536683131
|
0.00001
|
NM_000175.5(GPI):c.880G>A (p.Glu294Lys)
|
rs560277140
|
0.00001
|
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)
|
rs398122379
|
0.00001
|
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)
|
rs1172702857
|
0.00001
|
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)
|
rs373871387
|
0.00001
|
NM_000188.3(HK1):c.281G>A (p.Arg94Gln)
|
rs1176654400
|
0.00001
|
NM_000289.6(PFKM):c.*532A>G
|
rs927525907
|
0.00001
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
NM_000289.6(PFKM):c.1014C>G (p.Leu338=)
|
rs745952414
|
0.00001
|
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)
|
rs762357629
|
0.00001
|
NM_000289.6(PFKM):c.103A>C (p.Arg35=)
|
rs1057522048
|
0.00001
|
NM_000289.6(PFKM):c.1041C>T (p.Pro347=)
|
rs1350163599
|
0.00001
|
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
|
rs151045985
|
0.00001
|
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
|
rs531875148
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1149G>A (p.Glu383=)
|
rs765367927
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000289.6(PFKM):c.1192-16G>A
|
rs756542348
|
0.00001
|
NM_000289.6(PFKM):c.1192-4A>G
|
rs1320880960
|
0.00001
|
NM_000289.6(PFKM):c.1192-7T>C
|
rs1445315219
|
0.00001
|
NM_000289.6(PFKM):c.123T>C (p.Gly41=)
|
rs756442663
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.1260C>T (p.Arg420=)
|
rs756454146
|
0.00001
|
NM_000289.6(PFKM):c.1275T>C (p.Ile425=)
|
rs1592789738
|
0.00001
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
NM_000289.6(PFKM):c.129C>T (p.Phe43=)
|
rs1181855702
|
0.00001
|
NM_000289.6(PFKM):c.132C>T (p.Thr44=)
|
rs780240624
|
0.00001
|
NM_000289.6(PFKM):c.1374C>G (p.Gly458=)
|
rs765683112
|
0.00001
|
NM_000289.6(PFKM):c.138C>T (p.Ala46=)
|
rs1413157674
|
0.00001
|
NM_000289.6(PFKM):c.1401T>C (p.Leu467=)
|
rs554664722
|
0.00001
|
NM_000289.6(PFKM):c.1412+6T>C
|
rs1417385697
|
0.00001
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
NM_000289.6(PFKM):c.1455A>C (p.Ile485=)
|
rs1404730324
|
0.00001
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys)
|
rs1487607332
|
0.00001
|
NM_000289.6(PFKM):c.159+10G>A
|
rs772752063
|
0.00001
|
NM_000289.6(PFKM):c.1599C>T (p.Val533=)
|
rs1308260209
|
0.00001
|
NM_000289.6(PFKM):c.160-11G>C
|
rs770427697
|
0.00001
|
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
|
rs371605516
|
0.00001
|
NM_000289.6(PFKM):c.1653+10T>C
|
rs1355868874
|
0.00001
|
NM_000289.6(PFKM):c.1761A>G (p.Ala587=)
|
rs1950696961
|
0.00001
|
NM_000289.6(PFKM):c.1818+10C>T
|
rs774040508
|
0.00001
|
NM_000289.6(PFKM):c.1857T>C (p.Thr619=)
|
rs762229855
|
0.00001
|
NM_000289.6(PFKM):c.1908C>T (p.Thr636=)
|
rs748755500
|
0.00001
|
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
|
rs1180149962
|
0.00001
|
NM_000289.6(PFKM):c.1993-6C>T
|
rs1258118168
|
0.00001
|
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
|
rs1426948180
|
0.00001
|
NM_000289.6(PFKM):c.2093-9T>G
|
rs1425536614
|
0.00001
|
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln)
|
rs770276917
|
0.00001
|
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
|
rs373055147
|
0.00001
|
NM_000289.6(PFKM):c.216C>T (p.Ser72=)
|
rs760812841
|
0.00001
|
NM_000289.6(PFKM):c.2199-4G>A
|
rs1195176028
|
0.00001
|
NM_000289.6(PFKM):c.222G>A (p.Ser74=)
|
rs754074132
|
0.00001
|
NM_000289.6(PFKM):c.2292T>C (p.His764=)
|
rs765145687
|
0.00001
|
NM_000289.6(PFKM):c.2325C>T (p.Ser775=)
|
rs780497709
|
0.00001
|
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile)
|
rs537327893
|
0.00001
|
NM_000289.6(PFKM):c.237+10A>G
|
rs753085406
|
0.00001
|
NM_000289.6(PFKM):c.238-9C>T
|
rs1410090927
|
0.00001
|
NM_000289.6(PFKM):c.276T>C (p.Phe92=)
|
rs1479575063
|
0.00001
|
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg)
|
rs768553877
|
0.00001
|
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
|
rs138893744
|
0.00001
|
NM_000289.6(PFKM):c.318G>A (p.Val106=)
|
rs775680284
|
0.00001
|
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg)
|
rs763214745
|
0.00001
|
NM_000289.6(PFKM):c.333C>T (p.Thr111=)
|
rs767919774
|
0.00001
|
NM_000289.6(PFKM):c.36G>A (p.Leu12=)
|
rs765868040
|
0.00001
|
NM_000289.6(PFKM):c.375T>C (p.Ala125=)
|
rs748925843
|
0.00001
|
NM_000289.6(PFKM):c.384C>T (p.Phe128=)
|
rs771979702
|
0.00001
|
NM_000289.6(PFKM):c.393G>A (p.Glu131=)
|
rs1949678398
|
0.00001
|
NM_000289.6(PFKM):c.428-5G>A
|
rs530415874
|
0.00001
|
NM_000289.6(PFKM):c.477G>T (p.Val159=)
|
rs1409128392
|
0.00001
|
NM_000289.6(PFKM):c.483G>A (p.Leu161=)
|
rs199856938
|
0.00001
|
NM_000289.6(PFKM):c.546G>A (p.Leu182=)
|
rs779095033
|
0.00001
|
NM_000289.6(PFKM):c.570T>C (p.Asp190=)
|
rs761133325
|
0.00001
|
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
|
rs755956424
|
0.00001
|
NM_000289.6(PFKM):c.638+20C>T
|
rs901548166
|
0.00001
|
NM_000289.6(PFKM):c.66C>G (p.Thr22=)
|
rs995717911
|
0.00001
|
NM_000289.6(PFKM):c.675C>T (p.Ala225=)
|
rs1368560997
|
0.00001
|
NM_000289.6(PFKM):c.711C>T (p.Asp237=)
|
rs768094970
|
0.00001
|
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr)
|
rs748720104
|
0.00001
|
NM_000289.6(PFKM):c.825C>T (p.Thr275=)
|
rs1173987256
|
0.00001
|
NM_000289.6(PFKM):c.844-4T>C
|
rs1366950106
|
0.00001
|
NM_000289.6(PFKM):c.844-8C>T
|
rs1422456826
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
NM_000289.6(PFKM):c.927C>T (p.Asp309=)
|
rs752179477
|
0.00001
|
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
|
rs1251670627
|
0.00001
|
NM_000289.6(PFKM):c.936+1G>A
|
rs1949974650
|
0.00001
|
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
|
rs1225653591
|
0.00001
|
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
|
rs932393961
|
0.00001
|
NM_000289.6(PFKM):c.993C>G (p.Thr331=)
|
rs754716303
|
0.00001
|
NM_000298.6(PKLR):c.*275C>T
|
rs886045350
|
0.00001
|
NM_000298.6(PKLR):c.-31G>A
|
rs778164541
|
0.00001
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)
|
rs1358047518
|
0.00001
|
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
|
rs763466930
|
0.00001
|
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)
|
rs74315362
|
0.00001
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
0.00001
|
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu)
|
rs779817999
|
0.00001
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)
|
rs768002493
|
0.00001
|
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
|
rs771145576
|
0.00001
|
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)
|
rs201255024
|
0.00001
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
NM_000365.6(TPI1):c.*239C>T
|
rs886049811
|
0.00001
|
NM_000365.6(TPI1):c.*69C>T
|
rs782061169
|
0.00001
|
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)
|
rs121964848
|
0.00001
|
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
|
rs201432576
|
0.00001
|
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)
|
rs1565538350
|
0.00001
|
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
|
rs781891192
|
0.00001
|
NM_000375.3(UROS):c.*56T>C
|
rs1436191296
|
0.00001
|
NM_000375.3(UROS):c.*92T>G
|
rs887568142
|
0.00001
|
NM_000375.3(UROS):c.-203T>C
|
rs1554891988
|
0.00001
|
NM_000375.3(UROS):c.-26-193C>A
|
rs397515350
|
0.00001
|
NM_000375.3(UROS):c.-27+10G>A
|
rs376517536
|
0.00001
|
NM_000375.3(UROS):c.169G>A (p.Gly57Arg)
|
rs200322717
|
0.00001
|
NM_000375.3(UROS):c.184A>G (p.Thr62Ala)
|
rs28941775
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_000375.3(UROS):c.327A>C (p.Lys109Asn)
|
rs369561042
|
0.00001
|
NM_000375.3(UROS):c.53C>T (p.Pro18Leu)
|
rs766540245
|
0.00001
|
NM_000375.3(UROS):c.7G>T (p.Val3Phe)
|
rs773301339
|
0.00001
|
NM_000402.4(G6PD):c.1451G>A (p.Arg484His)
|
rs137852324
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)
|
rs137852343
|
0.00001
|
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser)
|
rs746068220
|
0.00001
|
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)
|
rs886051894
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=)
|
rs3169548
|
0.00001
|
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val)
|
rs929389001
|
0.00001
|
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=)
|
rs758280973
|
0.00001
|
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)
|
rs199852002
|
0.00001
|
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys)
|
rs776187312
|
0.00001
|
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp)
|
rs775705038
|
0.00001
|
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)
|
rs778814633
|
0.00001
|
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu)
|
rs1283845684
|
0.00001
|
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)
|
rs1463243958
|
0.00001
|
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=)
|
rs573479181
|
0.00001
|
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg)
|
rs760807537
|
0.00001
|
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)
|
rs779421883
|
0.00001
|
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)
|
rs565013143
|
0.00001
|
NM_001354741.2(PFKM):c.-81+1955A>G
|
rs755094329
|
0.00001
|
NM_001358263.1(HK1):c.75+20308C>T
|
rs756166032
|
0.00001
|
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
|
rs1557229854
|
0.00001
|
NM_001360016.2(G6PD):c.1052-10C>T
|
rs1557229778
|
0.00001
|
NM_001360016.2(G6PD):c.1052-9G>A
|
rs1334473526
|
0.00001
|
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=)
|
rs80280508
|
0.00001
|
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=)
|
rs782078151
|
0.00001
|
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=)
|
rs375809290
|
0.00001
|
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=)
|
rs1557229739
|
0.00001
|
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=)
|
rs371808526
|
0.00001
|
NM_001360016.2(G6PD):c.1287+14A>G
|
rs1557229641
|
0.00001
|
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=)
|
rs782761811
|
0.00001
|
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=)
|
rs1557229604
|
0.00001
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn)
|
rs782317415
|
0.00001
|
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=)
|
rs1557229428
|
0.00001
|
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=)
|
rs781923155
|
0.00001
|
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=)
|
rs1447713922
|
0.00001
|
NM_001360016.2(G6PD):c.153C>T (p.Thr51=)
|
rs2070406324
|
0.00001
|
NM_001360016.2(G6PD):c.177C>T (p.Gly59=)
|
rs1557230778
|
0.00001
|
NM_001360016.2(G6PD):c.228A>T (p.Thr76=)
|
rs782143230
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn)
|
rs141830127
|
0.00001
|
NM_001360016.2(G6PD):c.267+7G>A
|
rs2070402994
|
0.00001
|
NM_001360016.2(G6PD):c.309C>T (p.Ala103=)
|
rs781967989
|
0.00001
|
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu)
|
rs1557230626
|
0.00001
|
NM_001360016.2(G6PD):c.333G>A (p.Gln111=)
|
rs782572765
|
0.00001
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
NM_001360016.2(G6PD):c.396A>C (p.Ser132=)
|
rs1557230597
|
0.00001
|
NM_001360016.2(G6PD):c.432G>A (p.Pro144=)
|
rs782618375
|
0.00001
|
NM_001360016.2(G6PD):c.447C>T (p.Ala149=)
|
rs1557230574
|
0.00001
|
NM_001360016.2(G6PD):c.485+13G>A
|
rs781898381
|
0.00001
|
NM_001360016.2(G6PD):c.516C>T (p.Pro172=)
|
rs781805733
|
0.00001
|
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)
|
rs782315572
|
0.00001
|
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys)
|
rs1557230370
|
0.00001
|
NM_001360016.2(G6PD):c.645-8C>T
|
rs782599047
|
0.00001
|
NM_001360016.2(G6PD):c.648T>C (p.Phe216=)
|
rs137852319
|
0.00001
|
NM_001360016.2(G6PD):c.654C>T (p.Asn218=)
|
rs1557230228
|
0.00001
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
NM_001360016.2(G6PD):c.663C>T (p.Phe221=)
|
rs782530472
|
0.00001
|
NM_001360016.2(G6PD):c.771-9C>T
|
rs1237524196
|
0.00001
|
NM_001360016.2(G6PD):c.774C>T (p.Asp258=)
|
rs1252251475
|
0.00001
|
NM_001360016.2(G6PD):c.775G>A (p.Val259Met)
|
rs782690505
|
0.00001
|
NM_001360016.2(G6PD):c.865-5C>T
|
rs781920344
|
0.00001
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
NM_001365304.2(LOC112694756):c.*621+5G>A
|
rs774939475
|
0.00001
|
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)
|
rs751972865
|
0.00001
|
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)
|
rs121964925
|
0.00001
|
NM_001724.5(BPGM):c.269G>A (p.Arg90His)
|
rs781222092
|
0.00001
|
NM_020897.3(HCN3):c.*1330G>T
|
rs886045348
|
0.00001
|
NM_020897.3(HCN3):c.*832C>T
|
rs917244300
|
0.00001
|
G6PD A-
|
|
|
G6PD Amsterdam
|
rs2070404412
|
|
G6PD NARA
|
rs587776730
|
|
G6PD VARNSDORF
|
rs2070350009
|
|
G6PD ZURICH
|
rs2070350038
|
|
NC_000001.11:g.155301478C>G
|
rs2148221101
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)dup
|
|
|
NC_000016.9:g.(?_30066083)_(30081533_?)dup
|
|
|
NC_000023.10:g.(?_152014869)_(154563736_?)del
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153760215)_(153764413_?)dup
|
|
|
NC_000023.10:g.(?_153760215)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153762230)_(153775961_?)dup
|
|
|
NC_000023.11:g.154532803dup
|
|
|
NC_000023.11:g.154534338dup
|
rs2148330517
|
|
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
|
|
|
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_000175.5(GPI):c.1040G>A (p.Arg347His)
|
rs137853583
|
|
NM_000175.5(GPI):c.1063-13G>C
|
|
|
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
|
|
|
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg)
|
rs267606853
|
|
NM_000175.5(GPI):c.1143G>C (p.Gly381=)
|
rs1214297048
|
|
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter)
|
rs2074944986
|
|
NM_000175.5(GPI):c.1238A>G (p.Gln413Arg)
|
|
|
NM_000175.5(GPI):c.1269+1G>A
|
|
|
NM_000175.5(GPI):c.1356G>C (p.Ala452=)
|
rs34604585
|
|
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
|
|
|
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys)
|
rs1364382189
|
|
NM_000175.5(GPI):c.1415G>A (p.Arg472His)
|
|
|
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
|
|
|
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
|
|
|
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)
|
rs139035514
|
|
NM_000175.5(GPI):c.1614C>G (p.His538Gln)
|
rs537943038
|
|
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn)
|
rs137853585
|
|
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
|
|
|
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
|
|
|
NM_000175.5(GPI):c.190G>A (p.Val64Met)
|
|
|
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
|
|
|
NM_000175.5(GPI):c.244del (p.Glu82fs)
|
rs769026153
|
|
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
|
|
|
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
|
|
|
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
|
|
|
NM_000175.5(GPI):c.487-14A>G
|
|
|
NM_000175.5(GPI):c.603C>G (p.Pro201=)
|
rs1062480
|
|
NM_000175.5(GPI):c.637T>A (p.Phe213Ile)
|
rs2145365520
|
|
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
|
|
|
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
|
|
|
NM_000175.5(GPI):c.751-5del
|
rs375313737
|
|
NM_000175.5(GPI):c.751-5dup
|
rs375313737
|
|
NM_000175.5(GPI):c.804+1_804+2del
|
|
|
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
|
|
|
NM_000175.5(GPI):c.812del (p.Gly271fs)
|
rs2145419704
|
|
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
|
|
|
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
|
|
|
NM_000175.5(GPI):c.885G>T (p.Gln295His)
|
|
|
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
|
|
|
NM_000175.5(GPI):c.91G>C (p.Asp31His)
|
|
|
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
|
|
|
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
|
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)
|
rs2132884703
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)
|
rs137853249
|
|
NM_000188.3(HK1):c.497_591+1del
|
|
|
NM_000289.5(PFKM):c.-176C>T
|
rs886049451
|
|
NM_000289.5(PFKM):c.-64C>T
|
rs886049452
|
|
NM_000289.6(PFKM):c.*134G>A
|
rs886049456
|
|
NM_000289.6(PFKM):c.*163G>A
|
rs370250637
|
|
NM_000289.6(PFKM):c.*489T>A
|
rs886049457
|
|
NM_000289.6(PFKM):c.*503G>T
|
rs747797192
|
|
NM_000289.6(PFKM):c.*564G>A
|
rs1951034681
|
|
NM_000289.6(PFKM):c.*98G>A
|
rs886049455
|
|
NM_000289.6(PFKM):c.-8-2A>G
|
|
|
NM_000289.6(PFKM):c.1002T>C (p.Cys334=)
|
|
|
NM_000289.6(PFKM):c.1017T>C (p.Ser339=)
|
rs2135957213
|
|
NM_000289.6(PFKM):c.1020T>C (p.Gly340=)
|
rs2135957243
|
|
NM_000289.6(PFKM):c.1023C>T (p.Asn341=)
|
rs2135957291
|
|
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
|
|
|
NM_000289.6(PFKM):c.1029T>A (p.Ala343=)
|
rs2135957401
|
|
NM_000289.6(PFKM):c.1029T>C (p.Ala343=)
|
|
|
NM_000289.6(PFKM):c.1032G>A (p.Val344=)
|
rs1329869497
|
|
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
|
|
|
NM_000289.6(PFKM):c.1035C>T (p.Arg345=)
|
|
|
NM_000289.6(PFKM):c.1036C>T (p.Leu346=)
|
|
|
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
|
|
|
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro)
|
rs1203659685
|
|
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
|
|
|
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
|
|
|
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
|
|
|
NM_000289.6(PFKM):c.1062+14C>T
|
|
|
NM_000289.6(PFKM):c.1062+1G>A
|
|
|
NM_000289.6(PFKM):c.1062+20C>T
|
|
|
NM_000289.6(PFKM):c.1062+2T>C
|
rs2135957798
|
|
NM_000289.6(PFKM):c.1062+8C>T
|
|
|
NM_000289.6(PFKM):c.1062+9T>C
|
|
|
NM_000289.6(PFKM):c.1062G>T (p.Val354=)
|
|
|
NM_000289.6(PFKM):c.1063-10C>A
|
|
|
NM_000289.6(PFKM):c.1063-10C>T
|
|
|
NM_000289.6(PFKM):c.1063-18G>C
|
|
|
NM_000289.6(PFKM):c.1063-20T>A
|
|
|
NM_000289.6(PFKM):c.1063-5del
|
|
|
NM_000289.6(PFKM):c.1063-5dup
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>G
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>T
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-7C>A
|
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1063-8C>T
|
|
|
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
|
|
|
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
|
rs2135975682
|
|
NM_000289.6(PFKM):c.1077C>T (p.Thr359=)
|
|
|
NM_000289.6(PFKM):c.1080G>A (p.Lys360=)
|
|
|
NM_000289.6(PFKM):c.108T>C (p.Ala36=)
|
rs1949346132
|
|
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
|
|
|
NM_000289.6(PFKM):c.1113G>A (p.Leu371=)
|
rs2135976209
|
|
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
|
rs1950380994
|
|
NM_000289.6(PFKM):c.1122A>G (p.Arg374=)
|
|
|
NM_000289.6(PFKM):c.1127+10T>A
|
|
|
NM_000289.6(PFKM):c.1127+14G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>T
|
|
|
NM_000289.6(PFKM):c.1127+1G>T
|
rs2135976459
|
|
NM_000289.6(PFKM):c.1127+6G>T
|
|
|
NM_000289.6(PFKM):c.1127+7A>G
|
rs2135976553
|
|
NM_000289.6(PFKM):c.1127+8G>A
|
rs2135976581
|
|
NM_000289.6(PFKM):c.1127+9A>C
|
rs2135976634
|
|
NM_000289.6(PFKM):c.1128-10C>A
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-10C>T
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-15T>C
|
|
|
NM_000289.6(PFKM):c.1128-16T>A
|
|
|
NM_000289.6(PFKM):c.1128-17A>G
|
|
|
NM_000289.6(PFKM):c.1128-18T>C
|
|
|
NM_000289.6(PFKM):c.1128-19_1128-16del
|
|
|
NM_000289.6(PFKM):c.1128-2A>G
|
|
|
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
|
|
|
NM_000289.6(PFKM):c.114T>C (p.Val38=)
|
|
|
NM_000289.6(PFKM):c.1152G>A (p.Val384=)
|
|
|
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
NM_000289.6(PFKM):c.1161T>C (p.Leu387=)
|
rs1950427025
|
|
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
|
rs2135982704
|
|
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
|
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
|
|
|
NM_000289.6(PFKM):c.1182G>A (p.Pro394=)
|
rs372189049
|
|
NM_000289.6(PFKM):c.1191+11G>T
|
|
|
NM_000289.6(PFKM):c.1191+12T>G
|
rs2135983216
|
|
NM_000289.6(PFKM):c.1191+13T>G
|
|
|
NM_000289.6(PFKM):c.1191+3A>G
|
|
|
NM_000289.6(PFKM):c.1192-10T>C
|
|
|
NM_000289.6(PFKM):c.1192-11C>T
|
|
|
NM_000289.6(PFKM):c.1192-12C>G
|
|
|
NM_000289.6(PFKM):c.1192-19C>T
|
|
|
NM_000289.6(PFKM):c.1192-2A>G
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
NM_000289.6(PFKM):c.1192-5T>C
|
rs778432092
|
|
NM_000289.6(PFKM):c.1192-6G>C
|
|
|
NM_000289.6(PFKM):c.1192-9C>T
|
|
|
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
|
|
|
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
|
|
|
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
|
|
|
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
|
|
|
NM_000289.6(PFKM):c.1209G>A (p.Val403=)
|
|
|
NM_000289.6(PFKM):c.1221C>T (p.Asn407=)
|
rs764231757
|
|
NM_000289.6(PFKM):c.1224G>C (p.Val408=)
|
rs762040245
|
|
NM_000289.6(PFKM):c.1224G>T (p.Val408=)
|
|
|
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
|
|
|
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
|
|
|
NM_000289.6(PFKM):c.1248T>C (p.Asn416=)
|
|
|
NM_000289.6(PFKM):c.1254T>G (p.Ala418=)
|
rs1592789513
|
|
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile)
|
rs1266995508
|
|
NM_000289.6(PFKM):c.1266T>C (p.Thr422=)
|
|
|
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
|
|
|
NM_000289.6(PFKM):c.1281T>C (p.Leu427=)
|
|
|
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
|
|
|
NM_000289.6(PFKM):c.1293C>T (p.Asn431=)
|
rs1325830143
|
|
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
|
rs374824469
|
|
NM_000289.6(PFKM):c.1302C>G (p.Leu434=)
|
|
|
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
|
rs1217619963
|
|
NM_000289.6(PFKM):c.1314T>C (p.Asp438=)
|
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
|
|
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
|
rs1555206566
|
|
NM_000289.6(PFKM):c.1338del (p.Gln447fs)
|
rs2135995131
|
|
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
|
|
|
NM_000289.6(PFKM):c.1341+1G>A
|
|
|
NM_000289.6(PFKM):c.1341+1G>C
|
|
|
NM_000289.6(PFKM):c.1341+1G>T
|
rs755419857
|
|
NM_000289.6(PFKM):c.1341+8del
|
rs2135995386
|
|
NM_000289.6(PFKM):c.1342-13C>T
|
|
|
NM_000289.6(PFKM):c.1342-15G>A
|
|
|
NM_000289.6(PFKM):c.1342-1G>C
|
|
|
NM_000289.6(PFKM):c.1342-7C>T
|
rs1592793920
|
|
NM_000289.6(PFKM):c.1342-8C>T
|
|
|
NM_000289.6(PFKM):c.1342-9del
|
rs2136000813
|
|
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
|
|
|
NM_000289.6(PFKM):c.1347G>A (p.Glu449=)
|
rs1383781379
|
|
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
|
|
|
NM_000289.6(PFKM):c.1383C>T (p.Gly461=)
|
|
|
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
|
|
|
NM_000289.6(PFKM):c.1392C>T (p.Gly464=)
|
|
|
NM_000289.6(PFKM):c.1407T>C (p.Thr469=)
|
|
|
NM_000289.6(PFKM):c.1412+11C>G
|
|
|
NM_000289.6(PFKM):c.1412+14C>T
|
|
|
NM_000289.6(PFKM):c.1412+16G>T
|
|
|
NM_000289.6(PFKM):c.1412+17A>C
|
|
|
NM_000289.6(PFKM):c.1412+19G>T
|
|
|
NM_000289.6(PFKM):c.1412+1G>T
|
|
|
NM_000289.6(PFKM):c.1412+20C>T
|
|
|
NM_000289.6(PFKM):c.1412+2T>C
|
|
|
NM_000289.6(PFKM):c.1412+9C>T
|
rs2136001614
|
|
NM_000289.6(PFKM):c.1413-16A>G
|
|
|
NM_000289.6(PFKM):c.1413-19G>A
|
|
|
NM_000289.6(PFKM):c.1413-58C>A
|
rs78496902
|
|
NM_000289.6(PFKM):c.1413-5A>T
|
rs2136006212
|
|
NM_000289.6(PFKM):c.1413-64A>G
|
rs1202417178
|
|
NM_000289.6(PFKM):c.1416T>C (p.Thr472=)
|
rs1950594557
|
|
NM_000289.6(PFKM):c.1417C>T (p.Leu473=)
|
rs1950594770
|
|
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
|
|
|
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
|
|
|
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
|
|
|
NM_000289.6(PFKM):c.1443C>T (p.Ile481=)
|
rs2136006513
|
|
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
|
|
|
NM_000289.6(PFKM):c.1452T>C (p.Asn484=)
|
|
|
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
|
|
|
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
|
|
|
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
|
|
|
NM_000289.6(PFKM):c.147C>T (p.Phe49=)
|
|
|
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
|
|
|
NM_000289.6(PFKM):c.1491G>C (p.Gly497=)
|
|
|
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
|
|
|
NM_000289.6(PFKM):c.1500+14A>G
|
|
|
NM_000289.6(PFKM):c.1500+15C>T
|
|
|
NM_000289.6(PFKM):c.1500+2T>A
|
|
|
NM_000289.6(PFKM):c.1500+9C>T
|
rs1315594001
|
|
NM_000289.6(PFKM):c.1501-12TCT[2]
|
rs1230657170
|
|
NM_000289.6(PFKM):c.1501-2del
|
rs1410122696
|
|
NM_000289.6(PFKM):c.1501-5C>A
|
|
|
NM_000289.6(PFKM):c.1501-8C>T
|
|
|
NM_000289.6(PFKM):c.1503T>A (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1503T>G (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=)
|
rs2136008624
|
|
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
|
|
|
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val)
|
rs774891977
|
|
NM_000289.6(PFKM):c.1521A>G (p.Glu507=)
|
rs1592800238
|
|
NM_000289.6(PFKM):c.1522C>T (p.Leu508=)
|
|
|
NM_000289.6(PFKM):c.1530G>A (p.Glu510=)
|
|
|
NM_000289.6(PFKM):c.1557C>T (p.Cys519=)
|
|
|
NM_000289.6(PFKM):c.1563A>G (p.Pro521=)
|
rs2136009337
|
|
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
|
|
|
NM_000289.6(PFKM):c.156T>C (p.His52=)
|
|
|
NM_000289.6(PFKM):c.1581T>C (p.Ala527=)
|
|
|
NM_000289.6(PFKM):c.1587C>T (p.Val529=)
|
rs1406744971
|
|
NM_000289.6(PFKM):c.159+11T>C
|
|
|
NM_000289.6(PFKM):c.159+14T>C
|
|
|
NM_000289.6(PFKM):c.159+16T>C
|
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000289.6(PFKM):c.1596T>C (p.Asn532=)
|
|
|
NM_000289.6(PFKM):c.1599C>A (p.Val533=)
|
rs1308260209
|
|
NM_000289.6(PFKM):c.15G>A (p.Glu5=)
|
|
|
NM_000289.6(PFKM):c.160-11G>A
|
|
|
NM_000289.6(PFKM):c.160-13A>C
|
|
|
NM_000289.6(PFKM):c.160-13A>G
|
|
|
NM_000289.6(PFKM):c.160-13A>T
|
|
|
NM_000289.6(PFKM):c.160-14A>G
|
|
|
NM_000289.6(PFKM):c.160-16A>G
|
|
|
NM_000289.6(PFKM):c.160-18G>A
|
|
|
NM_000289.6(PFKM):c.160-1G>C
|
|
|
NM_000289.6(PFKM):c.160-4A>G
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
|
|
|
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
|
|
|
NM_000289.6(PFKM):c.1626T>C (p.Ala542=)
|
rs2136010141
|
|
NM_000289.6(PFKM):c.1632A>G (p.Thr544=)
|
rs2136010299
|
|
NM_000289.6(PFKM):c.1644T>C (p.Thr548=)
|
|
|
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
|
rs780042405
|
|
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
|
rs1950621584
|
|
NM_000289.6(PFKM):c.1653+12T>A
|
|
|
NM_000289.6(PFKM):c.1653+15C>T
|
|
|
NM_000289.6(PFKM):c.1653+19T>C
|
|
|
NM_000289.6(PFKM):c.1653+2T>G
|
|
|
NM_000289.6(PFKM):c.1653+7G>A
|
|
|
NM_000289.6(PFKM):c.1653+8C>G
|
rs369425921
|
|
NM_000289.6(PFKM):c.1653+9C>A
|
rs1442520537
|
|
NM_000289.6(PFKM):c.1654-20A>G
|
|
|
NM_000289.6(PFKM):c.1654-54_1654-46del
|
|
|
NM_000289.6(PFKM):c.1654-5T>C
|
|
|
NM_000289.6(PFKM):c.1654-7C>T
|
|
|
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
|
|
|
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
|
rs2136019328
|
|
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
|
rs2135856711
|
|
NM_000289.6(PFKM):c.1695T>C (p.Arg565=)
|
|
|
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
|
rs2136019645
|
|
NM_000289.6(PFKM):c.1704del (p.Phe568fs)
|
rs2136019667
|
|
NM_000289.6(PFKM):c.1707C>A (p.Ile569=)
|
|
|
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
|
|
|
NM_000289.6(PFKM):c.1713G>A (p.Glu571=)
|
|
|
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
|
|
|
NM_000289.6(PFKM):c.171C>A (p.Gly57=)
|
rs1949456909
|
|
NM_000289.6(PFKM):c.171C>T (p.Gly57=)
|
|
|
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
|
|
|
NM_000289.6(PFKM):c.1725C>T (p.Gly575=)
|
|
|
NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)
|
|
|
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
|
|
|
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
|
|
|
NM_000289.6(PFKM):c.1746C>T (p.Thr582=)
|
rs2136020208
|
|
NM_000289.6(PFKM):c.1761A>C (p.Ala587=)
|
|
|
NM_000289.6(PFKM):c.1761del (p.Ala588fs)
|
rs2136020407
|
|
NM_000289.6(PFKM):c.1767G>C (p.Gly589=)
|
|
|
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
|
|
|
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
|
|
|
NM_000289.6(PFKM):c.1779C>G (p.Ala593=)
|
rs1592808888
|
|
NM_000289.6(PFKM):c.1791G>A (p.Glu597=)
|
|
|
NM_000289.6(PFKM):c.1797C>T (p.Pro599=)
|
|
|
NM_000289.6(PFKM):c.1803C>T (p.Thr601=)
|
|
|
NM_000289.6(PFKM):c.1807C>A (p.Arg603=)
|
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
|
|
|
NM_000289.6(PFKM):c.1812C>T (p.Asp604=)
|
|
|
NM_000289.6(PFKM):c.1818+13C>A
|
|
|
NM_000289.6(PFKM):c.1818+15A>G
|
|
|
NM_000289.6(PFKM):c.1818+17del
|
|
|
NM_000289.6(PFKM):c.1818+19C>A
|
|
|
NM_000289.6(PFKM):c.1819-9C>A
|
rs755585302
|
|
NM_000289.6(PFKM):c.1819-9C>G
|
|
|
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
|
|
|
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
|
|
|
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
|
|
|
NM_000289.6(PFKM):c.1834C>T (p.Leu612=)
|
rs2136032182
|
|
NM_000289.6(PFKM):c.1842A>G (p.Gln614=)
|
|
|
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
|
|
|
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
|
|
|
NM_000289.6(PFKM):c.1866G>A (p.Arg622=)
|
|
|
NM_000289.6(PFKM):c.186A>C (p.Gly62=)
|
rs750471184
|
|
NM_000289.6(PFKM):c.1875G>A (p.Val625=)
|
rs1321101853
|
|
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
|
|
|
NM_000289.6(PFKM):c.1876_1880+2del
|
|
|
NM_000289.6(PFKM):c.1880+11C>G
|
|
|
NM_000289.6(PFKM):c.1880+12A>G
|
|
|
NM_000289.6(PFKM):c.1880+13T>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>T
|
|
|
NM_000289.6(PFKM):c.1880+3A>G
|
|
|
NM_000289.6(PFKM):c.1880+5C>G
|
|
|
NM_000289.6(PFKM):c.1881-17del
|
|
|
NM_000289.6(PFKM):c.1881-8C>T
|
rs779486479
|
|
NM_000289.6(PFKM):c.1884T>C (p.Asn628=)
|
rs2136035977
|
|
NM_000289.6(PFKM):c.1896T>C (p.Asn632=)
|
|
|
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
|
|
|
NM_000289.6(PFKM):c.18C>T (p.His6=)
|
|
|
NM_000289.6(PFKM):c.1902C>T (p.Asn634=)
|
|
|
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
|
|
|
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=)
|
|
|
NM_000289.6(PFKM):c.1908C>G (p.Thr636=)
|
|
|
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
|
|
|
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
|
|
|
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
|
rs1592818641
|
|
NM_000289.6(PFKM):c.192C>T (p.His64=)
|
rs2135857209
|
|
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
|
rs1950814614
|
|
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
|
|
|
NM_000289.6(PFKM):c.1938G>A (p.Glu646=)
|
|
|
NM_000289.6(PFKM):c.1941G>A (p.Glu647=)
|
rs2136036321
|
|
NM_000289.6(PFKM):c.1947G>A (p.Lys649=)
|
|
|
NM_000289.6(PFKM):c.1953C>A (p.Ile651=)
|
|
|
NM_000289.6(PFKM):c.1962C>T (p.Ser654=)
|
|
|
NM_000289.6(PFKM):c.1989G>A (p.Gln663=)
|
|
|
NM_000289.6(PFKM):c.1992+13C>G
|
|
|
NM_000289.6(PFKM):c.1992+13C>T
|
|
|
NM_000289.6(PFKM):c.1992+14C>A
|
|
|
NM_000289.6(PFKM):c.1992+14C>T
|
|
|
NM_000289.6(PFKM):c.1992+15G>A
|
|
|
NM_000289.6(PFKM):c.1992+17A>G
|
|
|
NM_000289.6(PFKM):c.1992+1G>T
|
|
|
NM_000289.6(PFKM):c.1992+20C>A
|
|
|
NM_000289.6(PFKM):c.1992+20C>T
|
|
|
NM_000289.6(PFKM):c.1993-16A>G
|
|
|
NM_000289.6(PFKM):c.1993-16_1993-15del
|
|
|
NM_000289.6(PFKM):c.1995T>C (p.Gly665=)
|
rs770758369
|
|
NM_000289.6(PFKM):c.2001C>T (p.Ser667=)
|
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.2007C>A (p.Thr669=)
|
|
|
NM_000289.6(PFKM):c.2019G>A (p.Arg673=)
|
rs1950913988
|
|
NM_000289.6(PFKM):c.201A>G (p.Glu67=)
|
|
|
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
|
|
|
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
|
|
|
NM_000289.6(PFKM):c.2043C>A (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2043C>T (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2046G>A (p.Lys682=)
|
|
|
NM_000289.6(PFKM):c.2047_2092+14del
|
|
|
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
|
rs2135857231
|
|
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
|
|
|
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
|
|
|
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)
|
rs121918196
|
|
NM_000289.6(PFKM):c.2064T>G (p.Ser688=)
|
|
|
NM_000289.6(PFKM):c.2070A>G (p.Lys690=)
|
|
|
NM_000289.6(PFKM):c.2073C>A (p.Ile691=)
|
|
|
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs)
|
rs2136049056
|
|
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
|
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
|
|
|
NM_000289.6(PFKM):c.2092+10del
|
|
|
NM_000289.6(PFKM):c.2092+12G>A
|
|
|
NM_000289.6(PFKM):c.2092+18G>A
|
|
|
NM_000289.6(PFKM):c.2092+20G>A
|
|
|
NM_000289.6(PFKM):c.2092+2T>C
|
|
|
NM_000289.6(PFKM):c.2092+7G>A
|
rs2136049384
|
|
NM_000289.6(PFKM):c.2092+8G>A
|
rs2136049447
|
|
NM_000289.6(PFKM):c.2092+9G>A
|
rs371778846
|
|
NM_000289.6(PFKM):c.2093-33G>C
|
|
|
NM_000289.6(PFKM):c.2093-5T>C
|
rs2136050932
|
|
NM_000289.6(PFKM):c.2093-6T>C
|
|
|
NM_000289.6(PFKM):c.2093-7A>C
|
|
|
NM_000289.6(PFKM):c.2093-8C>T
|
|
|
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
|
|
|
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met)
|
rs2136051089
|
|
NM_000289.6(PFKM):c.2106C>T (p.Ala702=)
|
|
|
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile)
|
rs1950938419
|
|
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
|
|
|
NM_000289.6(PFKM):c.2124C>G (p.Gly708=)
|
|
|
NM_000289.6(PFKM):c.2127T>C (p.Cys709=)
|
rs2136051296
|
|
NM_000289.6(PFKM):c.2133G>A (p.Leu711=)
|
|
|
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
|
|
|
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000289.6(PFKM):c.2166A>G (p.Pro722=)
|
rs2136051603
|
|
NM_000289.6(PFKM):c.2169G>A (p.Val723=)
|
|
|
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys)
|
rs1176082291
|
|
NM_000289.6(PFKM):c.2175G>A (p.Glu725=)
|
|
|
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
|
|
|
NM_000289.6(PFKM):c.2184C>T (p.Asp728=)
|
|
|
NM_000289.6(PFKM):c.2190A>G (p.Thr730=)
|
rs926218950
|
|
NM_000289.6(PFKM):c.2190A>T (p.Thr730=)
|
|
|
NM_000289.6(PFKM):c.2198+8C>T
|
|
|
NM_000289.6(PFKM):c.2198+9A>C
|
|
|
NM_000289.6(PFKM):c.2198+9A>G
|
|
|
NM_000289.6(PFKM):c.2199-15C>T
|
|
|
NM_000289.6(PFKM):c.2199-16C>T
|
|
|
NM_000289.6(PFKM):c.2199-5T>C
|
|
|
NM_000289.6(PFKM):c.2199-8C>T
|
|
|
NM_000289.6(PFKM):c.2199-9C>T
|
rs2136054913
|
|
NM_000289.6(PFKM):c.21T>C (p.His7=)
|
rs2137860144
|
|
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
|
|
|
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
|
|
|
NM_000289.6(PFKM):c.2211C>G (p.Pro737=)
|
rs1165739164
|
|
NM_000289.6(PFKM):c.2217A>G (p.Glu739=)
|
rs1950977568
|
|
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
|
rs1950977797
|
|
NM_000289.6(PFKM):c.2220G>A (p.Gln740=)
|
|
|
NM_000289.6(PFKM):c.222G>T (p.Ser74=)
|
rs754074132
|
|
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
|
|
|
NM_000289.6(PFKM):c.2236A>C (p.Arg746=)
|
rs1592832534
|
|
NM_000289.6(PFKM):c.2241C>A (p.Pro747=)
|
|
|
NM_000289.6(PFKM):c.2241C>T (p.Pro747=)
|
rs1350195023
|
|
NM_000289.6(PFKM):c.2244C>A (p.Ile748=)
|
|
|
NM_000289.6(PFKM):c.2247C>T (p.Leu749=)
|
|
|
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
|
|
|
NM_000289.6(PFKM):c.2259C>T (p.Ala753=)
|
|
|
NM_000289.6(PFKM):c.2262G>A (p.Lys754=)
|
|
|
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
|
|
|
NM_000289.6(PFKM):c.2268G>A (p.Glu756=)
|
rs2136055950
|
|
NM_000289.6(PFKM):c.2271T>C (p.Ile757=)
|
|
|
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
|
rs1950983081
|
|
NM_000289.6(PFKM):c.2277G>A (p.Leu759=)
|
rs1430120826
|
|
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
|
rs1592832922
|
|
NM_000289.6(PFKM):c.2283T>C (p.Thr761=)
|
|
|
NM_000289.6(PFKM):c.2286A>G (p.Ser762=)
|
rs1592832978
|
|
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
|
|
|
NM_000289.6(PFKM):c.2298C>T (p.His766=)
|
|
|
NM_000289.6(PFKM):c.2307C>T (p.His769=)
|
|
|
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
|
|
|
NM_000289.6(PFKM):c.2313C>T (p.Thr771=)
|
|
|
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
|
|
|
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
|
rs2136056634
|
|
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
|
|
|
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
|
|
|
NM_000289.6(PFKM):c.2334T>A (p.Ala778=)
|
rs8716
|
|
NM_000289.6(PFKM):c.2337C>G (p.Ala779=)
|
rs748647298
|
|
NM_000289.6(PFKM):c.237+17T>C
|
|
|
NM_000289.6(PFKM):c.237+1G>C
|
rs202143236
|
|
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
|
|
|
NM_000289.6(PFKM):c.237+8C>T
|
|
|
NM_000289.6(PFKM):c.238-12C>T
|
|
|
NM_000289.6(PFKM):c.238-13A>G
|
|
|
NM_000289.6(PFKM):c.238-20G>A
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000289.6(PFKM):c.262C>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.264G>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.277C>A (p.Arg93=)
|
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.290del (p.Gly97fs)
|
|
|
NM_000289.6(PFKM):c.291A>C (p.Gly97=)
|
rs2135884772
|
|
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
|
|
|
NM_000289.6(PFKM):c.297C>T (p.Leu99=)
|
rs1181881387
|
|
NM_000289.6(PFKM):c.309C>T (p.Tyr103=)
|
rs2135885049
|
|
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
|
|
|
NM_000289.6(PFKM):c.321G>A (p.Lys107=)
|
|
|
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
|
|
|
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
|
rs1592727517
|
|
NM_000289.6(PFKM):c.34C>T (p.Leu12=)
|
|
|
NM_000289.6(PFKM):c.354T>A (p.Gly118=)
|
|
|
NM_000289.6(PFKM):c.354T>C (p.Gly118=)
|
rs1187514309
|
|
NM_000289.6(PFKM):c.360C>T (p.Gly120=)
|
rs886049453
|
|
NM_000289.6(PFKM):c.363C>T (p.Ser121=)
|
|
|
NM_000289.6(PFKM):c.366C>T (p.Leu122=)
|
rs2135886000
|
|
NM_000289.6(PFKM):c.369T>G (p.Thr123=)
|
rs1592727757
|
|
NM_000289.6(PFKM):c.372G>A (p.Gly124=)
|
|
|
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
|
|
|
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)
|
rs2135886253
|
|
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
|
|
|
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
|
|
|
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
|
|
|
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
|
|
|
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
|
|
|
NM_000289.6(PFKM):c.427+17A>T
|
|
|
NM_000289.6(PFKM):c.427+20A>G
|
|
|
NM_000289.6(PFKM):c.427+9G>A
|
|
|
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
|
|
|
NM_000289.6(PFKM):c.428-10T>C
|
rs2135891586
|
|
NM_000289.6(PFKM):c.428-20G>C
|
|
|
NM_000289.6(PFKM):c.428-2A>C
|
rs895690691
|
|
NM_000289.6(PFKM):c.428-5G>T
|
|
|
NM_000289.6(PFKM):c.428-6T>C
|
rs2135891715
|
|
NM_000289.6(PFKM):c.428-7T>C
|
|
|
NM_000289.6(PFKM):c.428-9C>T
|
|
|
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
|
|
|
NM_000289.6(PFKM):c.438A>G (p.Thr146=)
|
|
|
NM_000289.6(PFKM):c.438A>T (p.Thr146=)
|
rs2135892064
|
|
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
|
|
|
NM_000289.6(PFKM):c.453G>C (p.Thr151=)
|
rs144370737
|
|
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
|
|
|
NM_000289.6(PFKM):c.489G>T (p.Gly163=)
|
|
|
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
|
|
|
NM_000289.6(PFKM):c.492A>C (p.Ser164=)
|
|
|
NM_000289.6(PFKM):c.507C>T (p.Phe169=)
|
rs777395109
|
|
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
|
|
|
NM_000289.6(PFKM):c.531C>A (p.Gly177=)
|
|
|
NM_000289.6(PFKM):c.534T>C (p.Thr178=)
|
rs146157053
|
|
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
|
|
|
NM_000289.6(PFKM):c.543C>T (p.Ala181=)
|
rs1370905542
|
|
NM_000289.6(PFKM):c.549T>C (p.His183=)
|
|
|
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
|
|
|
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
|
|
|
NM_000289.6(PFKM):c.552G>T (p.Arg184=)
|
rs976955357
|
|
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
|
|
|
NM_000289.6(PFKM):c.564T>C (p.Ile188=)
|
rs1949732821
|
|
NM_000289.6(PFKM):c.573C>T (p.Ala191=)
|
rs2135894032
|
|
NM_000289.6(PFKM):c.582C>T (p.Thr194=)
|
|
|
NM_000289.6(PFKM):c.582del (p.Thr195fs)
|
|
|
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
|
|
|
NM_000289.6(PFKM):c.593+10C>G
|
rs1949737425
|
|
NM_000289.6(PFKM):c.593+12T>A
|
|
|
NM_000289.6(PFKM):c.593+15G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>C
|
|
|
NM_000289.6(PFKM):c.593+8G>A
|
rs2135894357
|
|
NM_000289.6(PFKM):c.594-11A>G
|
|
|
NM_000289.6(PFKM):c.594-12T>C
|
|
|
NM_000289.6(PFKM):c.594-12dup
|
|
|
NM_000289.6(PFKM):c.594-13C>T
|
|
|
NM_000289.6(PFKM):c.594-14T>A
|
|
|
NM_000289.6(PFKM):c.594-16T>C
|
|
|
NM_000289.6(PFKM):c.594-17A>C
|
|
|
NM_000289.6(PFKM):c.594-17_594-16del
|
|
|
NM_000289.6(PFKM):c.594-18T>C
|
|
|
NM_000289.6(PFKM):c.594-19A>G
|
|
|
NM_000289.6(PFKM):c.594-1G>A
|
|
|
NM_000289.6(PFKM):c.594-20C>T
|
|
|
NM_000289.6(PFKM):c.594-4G>A
|
rs774807994
|
|
NM_000289.6(PFKM):c.594-5T>C
|
|
|
NM_000289.6(PFKM):c.594-7C>T
|
rs1458751002
|
|
NM_000289.6(PFKM):c.601A>C (p.Arg201=)
|
|
|
NM_000289.6(PFKM):c.606A>G (p.Thr202=)
|
rs2135907037
|
|
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
|
|
|
NM_000289.6(PFKM):c.627C>A (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.627C>G (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
|
|
|
NM_000289.6(PFKM):c.631dup (p.His211fs)
|
|
|
NM_000289.6(PFKM):c.638+12A>C
|
|
|
NM_000289.6(PFKM):c.638+161C>T
|
rs2286021
|
|
NM_000289.6(PFKM):c.638+18A>C
|
|
|
NM_000289.6(PFKM):c.638+18A>G
|
|
|
NM_000289.6(PFKM):c.638+1G>T
|
|
|
NM_000289.6(PFKM):c.638+4A>G
|
|
|
NM_000289.6(PFKM):c.638+7T>A
|
|
|
NM_000289.6(PFKM):c.639-10C>G
|
rs2135915213
|
|
NM_000289.6(PFKM):c.639-17T>C
|
|
|
NM_000289.6(PFKM):c.639-7A>T
|
|
|
NM_000289.6(PFKM):c.639-8C>T
|
|
|
NM_000289.6(PFKM):c.646dup (p.Ala216fs)
|
rs2135915377
|
|
NM_000289.6(PFKM):c.657C>T (p.Thr219=)
|
|
|
NM_000289.6(PFKM):c.660T>C (p.Ser220=)
|
|
|
NM_000289.6(PFKM):c.666C>T (p.Ser222=)
|
rs1249664880
|
|
NM_000289.6(PFKM):c.687T>C (p.Phe229=)
|
rs2135915804
|
|
NM_000289.6(PFKM):c.702A>C (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.702A>G (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
|
|
|
NM_000289.6(PFKM):c.708T>C (p.Asp236=)
|
|
|
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
|
|
|
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
|
rs1948422341
|
|
NM_000289.6(PFKM):c.720G>A (p.Glu240=)
|
|
|
NM_000289.6(PFKM):c.732T>C (p.Cys244=)
|
rs1406800853
|
|
NM_000289.6(PFKM):c.735C>T (p.Arg245=)
|
rs2135916916
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
NM_000289.6(PFKM):c.747+10C>G
|
|
|
NM_000289.6(PFKM):c.747+19_747+24del
|
|
|
NM_000289.6(PFKM):c.747+7_747+12del
|
|
|
NM_000289.6(PFKM):c.747+8C>T
|
|
|
NM_000289.6(PFKM):c.747+9A>G
|
rs2135917272
|
|
NM_000289.6(PFKM):c.748-18C>T
|
|
|
NM_000289.6(PFKM):c.748-19A>G
|
|
|
NM_000289.6(PFKM):c.748-4C>T
|
rs2135919001
|
|
NM_000289.6(PFKM):c.748-6A>G
|
rs2135918960
|
|
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
|
|
|
NM_000289.6(PFKM):c.74del (p.Gly25fs)
|
rs2137862074
|
|
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
|
|
|
NM_000289.6(PFKM):c.765T>G (p.Ser255=)
|
|
|
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
|
|
|
NM_000289.6(PFKM):c.768T>C (p.Arg256=)
|
|
|
NM_000289.6(PFKM):c.774C>T (p.Asn258=)
|
rs894740706
|
|
NM_000289.6(PFKM):c.777C>T (p.Ile259=)
|
rs2135919616
|
|
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
|
|
|
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
|
|
|
NM_000289.6(PFKM):c.783T>A (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.783T>C (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.786G>A (p.Val262=)
|
|
|
NM_000289.6(PFKM):c.789T>C (p.Ala263=)
|
|
|
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
|
|
|
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
|
|
|
NM_000289.6(PFKM):c.819A>G (p.Pro273=)
|
|
|
NM_000289.6(PFKM):c.843+16G>A
|
|
|
NM_000289.6(PFKM):c.843+20G>A
|
|
|
NM_000289.6(PFKM):c.844-11G>T
|
|
|
NM_000289.6(PFKM):c.844-6C>T
|
rs769686642
|
|
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
|
rs1310081048
|
|
NM_000289.6(PFKM):c.85+11G>C
|
|
|
NM_000289.6(PFKM):c.85+13G>A
|
|
|
NM_000289.6(PFKM):c.85+16del
|
|
|
NM_000289.6(PFKM):c.85+22dup
|
|
|
NM_000289.6(PFKM):c.85+8G>T
|
rs772038099
|
|
NM_000289.6(PFKM):c.85+9G>A
|
rs777960882
|
|
NM_000289.6(PFKM):c.85+9del
|
|
|
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
|
|
|
NM_000289.6(PFKM):c.852T>G (p.Val284=)
|
|
|
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
|
|
|
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
|
|
|
NM_000289.6(PFKM):c.859C>T (p.Leu287=)
|
rs925038213
|
|
NM_000289.6(PFKM):c.86-14G>T
|
|
|
NM_000289.6(PFKM):c.86-1G>C
|
|
|
NM_000289.6(PFKM):c.86-5T>C
|
|
|
NM_000289.6(PFKM):c.86-8C>T
|
|
|
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
|
|
|
NM_000289.6(PFKM):c.867T>C (p.Tyr289=)
|
|
|
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
|
|
|
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
|
rs2135924488
|
|
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
|
|
|
NM_000289.6(PFKM):c.873C>A (p.Thr291=)
|
|
|
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
|
|
|
NM_000289.6(PFKM):c.874del (p.Arg292fs)
|
rs1369841345
|
|
NM_000289.6(PFKM):c.877dup (p.Val293fs)
|
|
|
NM_000289.6(PFKM):c.879T>C (p.Val293=)
|
|
|
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
|
|
|
NM_000289.6(PFKM):c.886T>C (p.Leu296=)
|
|
|
NM_000289.6(PFKM):c.891G>T (p.Gly297=)
|
rs2135924830
|
|
NM_000289.6(PFKM):c.903G>A (p.Arg301=)
|
rs2135924903
|
|
NM_000289.6(PFKM):c.921C>T (p.Ala307=)
|
rs2135925089
|
|
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
|
|
|
NM_000289.6(PFKM):c.936+10T>C
|
rs2135925401
|
|
NM_000289.6(PFKM):c.936+10_936+28del
|
|
|
NM_000289.6(PFKM):c.936+12G>C
|
|
|
NM_000289.6(PFKM):c.936+20G>A
|
|
|
NM_000289.6(PFKM):c.936+2T>G
|
|
|
NM_000289.6(PFKM):c.936+9C>T
|
|
|
NM_000289.6(PFKM):c.937-13T>C
|
|
|
NM_000289.6(PFKM):c.937-15T>C
|
|
|
NM_000289.6(PFKM):c.937-18T>A
|
|
|
NM_000289.6(PFKM):c.937-19G>A
|
|
|
NM_000289.6(PFKM):c.937-4G>A
|
rs1175020971
|
|
NM_000289.6(PFKM):c.937-6C>T
|
rs1245827075
|
|
NM_000289.6(PFKM):c.937-8T>A
|
|
|
NM_000289.6(PFKM):c.937-8T>C
|
rs2135956395
|
|
NM_000289.6(PFKM):c.93T>C (p.Asn31=)
|
rs2135841860
|
|
NM_000289.6(PFKM):c.942C>T (p.Ser314=)
|
|
|
NM_000289.6(PFKM):c.943A>C (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.945G>A (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.954G>A (p.Val318=)
|
|
|
NM_000289.6(PFKM):c.957A>G (p.Glu319=)
|
|
|
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
|
|
|
NM_000289.6(PFKM):c.972T>A (p.Leu324=)
|
|
|
NM_000289.6(PFKM):c.987A>G (p.Pro329=)
|
rs932393961
|
|
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
|
|
|
NM_000289.6(PFKM):c.996A>G (p.Pro332=)
|
|
|
NM_000289.6(PFKM):c.9T>C (p.His3=)
|
|
|
NM_000298.6(PKLR):c.*13T>C
|
rs1052177
|
|
NM_000298.6(PKLR):c.*13T>G
|
rs1052177
|
|
NM_000298.6(PKLR):c.*14C>G
|
rs8177994
|
|
NM_000298.6(PKLR):c.*351T>A
|
rs886045349
|
|
NM_000298.6(PKLR):c.*356T>C
|
rs1674470980
|
|
NM_000298.6(PKLR):c.*500C>T
|
rs1674463281
|
|
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)
|
rs747097960
|
|
NM_000298.6(PKLR):c.1015del (p.Asp339fs)
|
rs1193689718
|
|
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
|
|
|
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg)
|
rs2148204121
|
|
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg)
|
rs752423472
|
|
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
|
|
|
NM_000298.6(PKLR):c.1117-4C>G
|
rs1572054195
|
|
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys)
|
rs118204084
|
|
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)
|
rs755522396
|
|
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
|
|
|
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
|
rs185753709
|
|
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
|
|
|
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter)
|
rs2148198897
|
|
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)
|
rs1674554041
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)
|
rs2148218886
|
|
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
|
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
NM_000298.6(PKLR):c.375+10G>T
|
rs8177971
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)
|
rs118204089
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
|
|
|
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)
|
rs118204083
|
|
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
|
rs1220156417
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
NM_000298.6(PKLR):c.639G>T (p.Val213=)
|
rs750102822
|
|
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
|
|
|
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
|
|
|
NM_000298.6(PKLR):c.694+43C>T
|
|
|
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
|
|
|
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)
|
|
|
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
|
|
|
NM_000298.6(PKLR):c.826del (p.Val276fs)
|
rs754939638
|
|
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
|
|
|
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp)
|
rs2148204818
|
|
NM_000298.6(PKLR):c.966-12C>T
|
rs1188767860
|
|
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
|
rs763964110
|
|
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
|
rs8177974
|
|
NM_000365.6(TPI1):c.*134C>A
|
rs782308993
|
|
NM_000365.6(TPI1):c.*173G>A
|
rs1191018741
|
|
NM_000365.6(TPI1):c.*520T>C
|
rs1944574698
|
|
NM_000365.6(TPI1):c.*541dup
|
rs201871949
|
|
NM_000365.6(TPI1):c.*542_*544del
|
rs782559646
|
|
NM_000365.6(TPI1):c.-29C>G
|
rs181882616
|
|
NM_000365.6(TPI1):c.-29C>T
|
rs181882616
|
|
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
|
|
|
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
|
|
|
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
|
|
|
NM_000365.6(TPI1):c.239+8C>A
|
rs782359362
|
|
NM_000365.6(TPI1):c.32dup (p.Asn12fs)
|
rs587777441
|
|
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
|
|
|
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)
|
rs199881593
|
|
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
|
|
|
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter)
|
rs121964850
|
|
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
|
|
|
NM_000365.6(TPI1):c.457+7C>G
|
|
|
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
|
|
|
NM_000365.6(TPI1):c.511A>G (p.Ile171Val)
|
rs121964849
|
|
NM_000365.6(TPI1):c.544-1G>C
|
rs2138094606
|
|
NM_000365.6(TPI1):c.558C>T (p.His186=)
|
rs369241009
|
|
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
|
|
|
NM_000365.6(TPI1):c.694G>A (p.Val232Met)
|
rs1555132614
|
|
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)
|
rs121964847
|
|
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser)
|
rs587777440
|
|
NM_000375.2(UROS):c.148_244del
|
rs2133941461
|
|
NM_000375.3(UROS):c.-195C>A
|
rs1227442865
|
|
NM_000375.3(UROS):c.-224C>T
|
rs1854170338
|
|
NM_000375.3(UROS):c.-26-183G>A
|
rs397515349
|
|
NM_000375.3(UROS):c.-26-197C>A
|
rs397515351
|
|
NM_000375.3(UROS):c.139T>C (p.Ser47Pro)
|
rs397515527
|
|
NM_000375.3(UROS):c.158C>T (p.Pro53Leu)
|
rs121908013
|
|
NM_000375.3(UROS):c.197C>T (p.Ala66Val)
|
rs28941774
|
|
NM_000375.3(UROS):c.243A>T (p.Glu81Asp)
|
rs121908018
|
|
NM_000375.3(UROS):c.251A>C (p.Glu84Ala)
|
rs763606042
|
|
NM_000375.3(UROS):c.311C>T (p.Ala104Val)
|
rs397515528
|
|
NM_000375.3(UROS):c.395-1dup
|
rs796051859
|
|
NM_000375.3(UROS):c.512T>C (p.Val171Ala)
|
rs17173752
|
|
NM_000375.3(UROS):c.512T>G (p.Val171Gly)
|
rs17173752
|
|
NM_000375.3(UROS):c.562G>A (p.Gly188Arg)
|
rs121908017
|
|
NM_000375.3(UROS):c.562G>T (p.Gly188Trp)
|
rs121908017
|
|
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys)
|
rs1590007244
|
|
NM_000375.3(UROS):c.660+4del
|
|
|
NM_000375.3(UROS):c.743C>A (p.Pro248Gln)
|
rs121908021
|
|
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)
|
rs137852347
|
|
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)
|
rs137852333
|
|
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)
|
rs137852345
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)
|
rs137852322
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
|
rs137852334
|
|
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)
|
rs137852321
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)
|
rs137852335
|
|
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)
|
rs137852323
|
|
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)
|
rs137852336
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)
|
rs137852344
|
|
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg)
|
rs137852348
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn)
|
rs137852315
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.683G>A (p.Arg228His)
|
rs137852332
|
|
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)
|
rs137852332
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu)
|
rs137852319
|
|
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)
|
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
|
|
|
NM_001042351.1(G6PD):c.[376A>G;542A>T]
|
|
|
NM_001042351.3(G6PD):c.-9+2T>G
|
|
|
NM_001099857.5(IKBKG):c.-16+1G>T
|
rs2148357351
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
|
|
|
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
|
|
|
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
|
|
|
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
|
|
|
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
|
|
|
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
|
|
|
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
|
|
|
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
|
|
|
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
|
|
|
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
|
|
|
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
|
|
|
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
|
|
|
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
|
|
|
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
|
|
|
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)
|
rs2151019809
|
|
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
|
|
|
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly)
|
rs1261199026
|
|
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
|
|
|
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
|
|
|
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
|
|
|
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
|
|
|
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
|
|
|
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)
|
rs2072147536
|
|
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
|
|
|
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
|
|
|
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
|
|
|
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
|
|
|
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
|
|
|
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=)
|
rs2151015694
|
|
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
|
|
|
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
|
|
|
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)
|
rs549146709
|
|
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
|
|
|
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
|
|
|
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
|
|
|
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
|
|
|
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
|
|
|
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
|
|
|
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
|
|
|
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
|
|
|
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
|
|
|
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
|
|
|
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
|
|
|
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)
|
rs201468609
|
|
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
|
|
|
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
|
|
|
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu)
|
rs2151016133
|
|
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
|
|
|
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
|
|
|
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
|
|
|
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)
|
rs747482925
|
|
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
|
|
|
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
|
|
|
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
|
|
|
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
|
|
|
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)
|
rs2072169825
|
|
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
|
|
|
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
|
|
|
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
|
|
|
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
|
|
|
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
|
|
|
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly)
|
rs121909533
|
|
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
|
|
|
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
|
|
|
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
|
|
|
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
|
|
|
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
|
|
|
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
|
|
|
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
|
|
|
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
|
|
|
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
|
|
|
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
|
|
|
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)
|
rs886051892
|
|
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
|
|
|
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)
|
rs1596813728
|
|
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu)
|
rs2151018036
|
|
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
|
|
|
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
|
|
|
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
|
|
|
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
|
|
|
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
|
|
|
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)
|
rs121909534
|
|
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
|
|
|
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
|
|
|
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
|
|
|
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
|
|
|
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
|
|
|
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
|
|
|
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
|
|
|
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
|
|
|
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
|
|
|
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
|
|
|
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
|
|
|
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
|
|
|
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
|
|
|
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
|
|
|
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
|
|
|
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
|
|
|
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
|
|
|
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
|
|
|
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
|
|
|
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
|
|
|
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu)
|
rs193298317
|
|
NM_001354741.2(PFKM):c.-81+1966C>T
|
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001358263.1(HK1):c.1A>T (p.Met1Leu)
|
rs1589439508
|
|
NM_001358263.1(HK1):c.75+20336T>A
|
rs769395943
|
|
NM_001358263.1(HK1):c.75+23T>C
|
rs4746837
|
|
NM_001360016.2(G6PD):c.*272G>A
|
|
|
NM_001360016.2(G6PD):c.*304T>C
|
|
|
NM_001360016.2(G6PD):c.*357G>A
|
|
|
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
|
|
|
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
|
|
|
NM_001360016.2(G6PD):c.1020C>T (p.Val340=)
|
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
|
|
|
NM_001360016.2(G6PD):c.1051+11C>T
|
rs1258960910
|
|
NM_001360016.2(G6PD):c.1052-16C>A
|
|
|
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
|
|
|
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=)
|
rs782533137
|
|
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=)
|
|
|
NM_001360016.2(G6PD):c.1056G>A (p.Val352=)
|
|
|
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
|
|
|
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
|
|
|
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
|
|
|
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)
|
|
|
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
|
|
|
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
|
|
|
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile)
|
rs1557229736
|
|
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys)
|
rs137852329
|
|
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
|
|
|
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)
|
rs1057518975
|
|
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=)
|
rs2070354836
|
|
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp)
|
rs1421656710
|
|
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
|
|
|
NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser)
|
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
|
|
|
NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)
|
|
|
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr)
|
|
|
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
|
|
|
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu)
|
rs2148328905
|
|
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
|
|
|
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly)
|
|
|
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
|
|
|
NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp)
|
|
|
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
|
|
|
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
|
|
|
NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly)
|
|
|
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys)
|
rs2148328873
|
|
NM_001360016.2(G6PD):c.1182G>A (p.Val394=)
|
rs2148328863
|
|
NM_001360016.2(G6PD):c.1183C>T (p.Gln395Ter)
|
|
|
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala)
|
rs2148328852
|
|
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg)
|
rs1557229683
|
|
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu)
|
rs1557229683
|
|
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)
|
rs137852325
|
|
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
|
|
|
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
|
|
|
NM_001360016.2(G6PD):c.120+13C>G
|
|
|
NM_001360016.2(G6PD):c.120+14A>T
|
|
|
NM_001360016.2(G6PD):c.120+199dup
|
rs781893284
|
|
NM_001360016.2(G6PD):c.120+2955A>G
|
|
|
NM_001360016.2(G6PD):c.120+3126T>C
|
|
|
NM_001360016.2(G6PD):c.120+7A>G
|
rs369904290
|
|
NM_001360016.2(G6PD):c.120+9C>T
|
rs886044853
|
|
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=)
|
rs2148328821
|
|
NM_001360016.2(G6PD):c.1205C>A (p.Thr402Asn)
|
|
|
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=)
|
|
|
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=)
|
rs1355739430
|
|
NM_001360016.2(G6PD):c.121-1792T>C
|
|
|
NM_001360016.2(G6PD):c.121-1813del
|
|
|
NM_001360016.2(G6PD):c.121-19C>A
|
|
|
NM_001360016.2(G6PD):c.121-2107T>C
|
|
|
NM_001360016.2(G6PD):c.121-2679C>G
|
|
|
NM_001360016.2(G6PD):c.121-4460del
|
|
|
NM_001360016.2(G6PD):c.121-4A>C
|
|
|
NM_001360016.2(G6PD):c.121-5C>T
|
|
|
NM_001360016.2(G6PD):c.1215G>A (p.Met405Ile)
|
|
|
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)
|
|
|
NM_001360016.2(G6PD):c.1220A>C (p.Lys407Thr)
|
|
|
NM_001360016.2(G6PD):c.1225C>T (p.Pro409Ser)
|
|
|
NM_001360016.2(G6PD):c.1226C>A (p.Pro409Gln)
|
|
|
NM_001360016.2(G6PD):c.1226C>G (p.Pro409Arg)
|
|
|
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=)
|
rs781879876
|
|
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
|
|
|
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser)
|
rs1603411292
|
|
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys)
|
|
|
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=)
|
rs2148328776
|
|
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=)
|
rs2148328772
|
|
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=)
|
rs2148328766
|
|
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
|
|
|
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)
|
rs1557229652
|
|
NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter)
|
|
|
NM_001360016.2(G6PD):c.1284C>A (p.Tyr428Ter)
|
|
|
NM_001360016.2(G6PD):c.1285A>G (p.Lys429Glu)
|
|
|
NM_001360016.2(G6PD):c.1287+7T>C
|
|
|
NM_001360016.2(G6PD):c.1288-11C>T
|
|
|
NM_001360016.2(G6PD):c.1288-12T>A
|
rs2148328659
|
|
NM_001360016.2(G6PD):c.1288-13C>G
|
|
|
NM_001360016.2(G6PD):c.1288-14T>A
|
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001360016.2(G6PD):c.1288-15C>T
|
|
|
NM_001360016.2(G6PD):c.1288-16A>C
|
|
|
NM_001360016.2(G6PD):c.1288-17C>G
|
|
|
NM_001360016.2(G6PD):c.1288-2A>T
|
|
|
NM_001360016.2(G6PD):c.1288-4A>G
|
|
|
NM_001360016.2(G6PD):c.1288-5C>T
|
|
|
NM_001360016.2(G6PD):c.1288-8C>A
|
rs2148328644
|
|
NM_001360016.2(G6PD):c.1288-8C>T
|
rs2148328644
|
|
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
|
|
|
NM_001360016.2(G6PD):c.1292T>G (p.Val431Gly)
|
|
|
NM_001360016.2(G6PD):c.1293G>A (p.Val431=)
|
|
|
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)
|
|
|
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
|
|
|
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
|
rs2230037
|
|
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=)
|
rs2230037
|
|
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys)
|
rs2148328604
|
|
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)
|
rs1557229599
|
|
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=)
|
|
|
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)
|
|
|
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=)
|
|
|
NM_001360016.2(G6PD):c.132C>G (p.Ala44=)
|
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
|
|
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
|
|
|
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
|
|
|
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=)
|
rs2148328562
|
|
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
|
|
|
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
|
|
|
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
|
|
|
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
|
|
|
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)
|
rs137852324
|
|
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
|
|
|
NM_001360016.2(G6PD):c.1364+10A>G
|
|
|
NM_001360016.2(G6PD):c.1364+15C>T
|
rs2148328536
|
|
NM_001360016.2(G6PD):c.1364+16C>T
|
|
|
NM_001360016.2(G6PD):c.1364+17G>A
|
|
|
NM_001360016.2(G6PD):c.1364+18G>A
|
|
|
NM_001360016.2(G6PD):c.1365-19C>T
|
|
|
NM_001360016.2(G6PD):c.1365-5C>T
|
rs886044905
|
|
NM_001360016.2(G6PD):c.1365-8C>A
|
|
|
NM_001360016.2(G6PD):c.1365-8C>T
|
|
|
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
|
|
|
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
|
|
|
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
|
|
|
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)
|
|
|
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
|
|
|
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
|
|
|
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys)
|
rs2070346788
|
|
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His)
|
rs72554665
|
|
NM_001360016.2(G6PD):c.1376del (p.Arg459fs)
|
rs2070346743
|
|
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)
|
rs1603411214
|
|
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)
|
|
|
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
|
|
|
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
|
|
|
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
|
|
|
NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu)
|
|
|
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
|
|
|
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=)
|
rs398123547
|
|
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
|
|
|
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
|
|
|
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)
|
rs2148328385
|
|
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)
|
|
|
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=)
|
rs2148328378
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
|
|
|
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)
|
|
|
NM_001360016.2(G6PD):c.1457+10G>A
|
rs2148328331
|
|
NM_001360016.2(G6PD):c.1457+11G>C
|
|
|
NM_001360016.2(G6PD):c.1457+11G>T
|
|
|
NM_001360016.2(G6PD):c.1457+12G>A
|
|
|
NM_001360016.2(G6PD):c.1457+14G>T
|
|
|
NM_001360016.2(G6PD):c.1457+15G>A
|
|
|
NM_001360016.2(G6PD):c.1457+17G>A
|
|
|
NM_001360016.2(G6PD):c.1457+37_1458-10dup
|
|
|
NM_001360016.2(G6PD):c.1457+7_1458-43del
|
|
|
NM_001360016.2(G6PD):c.1457+9A>T
|
|
|
NM_001360016.2(G6PD):c.1458-13C>T
|
rs371772243
|
|
NM_001360016.2(G6PD):c.1458-7T>A
|
|
|
NM_001360016.2(G6PD):c.1458-7T>C
|
|
|
NM_001360016.2(G6PD):c.1463G>T (p.Gly488Val)
|
|
|
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser)
|
rs1603411177
|
|
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)
|
|
|
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=)
|
rs2148328181
|
|
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)
|
|
|
NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs)
|
|
|
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
|
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
|
|
|
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)
|
|
|
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
|
|
|
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)
|
|
|
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)
|
|
|
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)
|
|
|
NM_001360016.2(G6PD):c.158+16C>T
|
|
|
NM_001360016.2(G6PD):c.158+17A>G
|
|
|
NM_001360016.2(G6PD):c.159-11C>T
|
|
|
NM_001360016.2(G6PD):c.159-16T>C
|
|
|
NM_001360016.2(G6PD):c.159-17C>T
|
|
|
NM_001360016.2(G6PD):c.159-3C>T
|
|
|
NM_001360016.2(G6PD):c.159-8G>T
|
rs2148331979
|
|
NM_001360016.2(G6PD):c.165G>A (p.Leu55=)
|
|
|
NM_001360016.2(G6PD):c.168C>T (p.Phe56=)
|
rs2148331964
|
|
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
|
|
|
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
|
|
|
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
|
|
|
NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
|
|
|
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
|
|
|
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
|
|
|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)
|
rs2070404146
|
|
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
|
|
|
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
|
|
|
NM_001360016.2(G6PD):c.210T>C (p.Tyr70=)
|
|
|
NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
|
|
|
NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
|
|
|
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
|
|
|
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
|
|
|
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
|
|
|
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile)
|
rs2148331887
|
|
NM_001360016.2(G6PD):c.235G>C (p.Asp79His)
|
rs2148331875
|
|
NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
|
|
|
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
|
|
|
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
|
|
|
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)
|
|
|
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
|
|
|
NM_001360016.2(G6PD):c.268-12C>T
|
|
|
NM_001360016.2(G6PD):c.268-13C>T
|
|
|
NM_001360016.2(G6PD):c.268-24TGTC[2]
|
|
|
NM_001360016.2(G6PD):c.268-6T>C
|
|
|
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
|
|
|
NM_001360016.2(G6PD):c.270C>T (p.Ala90=)
|
|
|
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
|
|
|
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
|
|
|
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
|
|
|
NM_001360016.2(G6PD):c.283_285del (p.Lys95del)
|
|
|
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
|
|
|
NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
|
rs2070395767
|
|
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser)
|
rs886044847
|
|
NM_001360016.2(G6PD):c.30C>A (p.Thr10=)
|
rs982197712
|
|
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
|
|
|
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
|
|
|
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
|
|
|
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
|
|
|
NM_001360016.2(G6PD):c.318C>G (p.Ser106=)
|
|
|
NM_001360016.2(G6PD):c.318C>T (p.Ser106=)
|
rs2148331419
|
|
NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)
|
|
|
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=)
|
rs2148331412
|
|
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
|
|
|
NM_001360016.2(G6PD):c.345A>G (p.Ala115=)
|
|
|
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
|
|
|
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
|
|
|
NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
|
|
|
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
|
|
|
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
|
|
|
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
|
|
|
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser)
|
rs2148331380
|
|
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
|
|
|
NM_001360016.2(G6PD):c.359G>A (p.Arg120His)
|
rs782820967
|
|
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu)
|
rs782820967
|
|
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
|
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
NM_001360016.2(G6PD):c.384C>T (p.Leu128=)
|
rs2148331335
|
|
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)
|
rs782322505
|
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
|
|
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
|
|
|
NM_001360016.2(G6PD):c.414C>T (p.Phe138=)
|
rs2148331303
|
|
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
|
|
|
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
|
|
|
NM_001360016.2(G6PD):c.423C>G (p.Ala141=)
|
rs782627357
|
|
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
|
|
|
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
|
|
|
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
|
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)
|
rs1557230573
|
|
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
|
|
|
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
|
|
|
NM_001360016.2(G6PD):c.465C>T (p.His155=)
|
|
|
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)
|
|
|
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr)
|
|
|
NM_001360016.2(G6PD):c.485+12C>T
|
|
|
NM_001360016.2(G6PD):c.485+14T>C
|
|
|
NM_001360016.2(G6PD):c.485+15T>A
|
|
|
NM_001360016.2(G6PD):c.485+17C>T
|
|
|
NM_001360016.2(G6PD):c.485+184del
|
|
|
NM_001360016.2(G6PD):c.485+3A>G
|
|
|
NM_001360016.2(G6PD):c.486-10C>T
|
|
|
NM_001360016.2(G6PD):c.486-17C>T
|
|
|
NM_001360016.2(G6PD):c.486-17del
|
|
|
NM_001360016.2(G6PD):c.486-34del
|
rs3216174
|
|
NM_001360016.2(G6PD):c.486-6C>T
|
|
|
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
|
|
|
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
|
|
|
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
|
|
|
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
|
|
|
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
|
|
|
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
|
|
|
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
|
|
|
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
|
|
|
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
|
|
|
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
|
|
|
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
|
|
|
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
|
|
|
NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn)
|
|
|
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
|
|
|
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
|
|
|
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
|
|
|
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
|
|
|
NM_001360016.2(G6PD):c.558C>T (p.His186=)
|
|
|
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
|
|
|
NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del)
|
|
|
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
|
|
|
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
|
|
|
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
|
|
|
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
|
|
|
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
|
|
|
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
|
|
|
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
|
|
|
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
|
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
|
|
|
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
|
|
|
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
|
|
|
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)
|
rs2148330566
|
|
NM_001360016.2(G6PD):c.633C>G (p.Leu211=)
|
rs781866029
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
|
|
NM_001360016.2(G6PD):c.644+10A>G
|
|
|
NM_001360016.2(G6PD):c.644+19C>T
|
|
|
NM_001360016.2(G6PD):c.644+6G>A
|
|
|
NM_001360016.2(G6PD):c.644+7C>T
|
|
|
NM_001360016.2(G6PD):c.644+9A>C
|
rs1279844136
|
|
NM_001360016.2(G6PD):c.645-10C>G
|
|
|
NM_001360016.2(G6PD):c.645-14G>T
|
|
|
NM_001360016.2(G6PD):c.645-3C>T
|
|
|
NM_001360016.2(G6PD):c.645-8_645-5del
|
rs782160396
|
|
NM_001360016.2(G6PD):c.645-9T>C
|
rs2148330346
|
|
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
|
|
|
NM_001360016.2(G6PD):c.672C>T (p.Ile224=)
|
rs2148330315
|
|
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)
|
|
|
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
|
|
|
NM_001360016.2(G6PD):c.687C>T (p.Asn229=)
|
|
|
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
|
|
|
NM_001360016.2(G6PD):c.693C>T (p.Ala231=)
|
|
|
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
|
|
|
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
|
|
|
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
|
|
|
NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg)
|
|
|
NM_001360016.2(G6PD):c.720C>T (p.Pro240=)
|
rs2148330281
|
|
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
|
|
|
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu)
|
rs1557233192
|
|
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
|
|
|
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
|
|
|
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
|
|
|
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
|
|
|
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
|
|
|
NM_001360016.2(G6PD):c.753T>C (p.Asp251=)
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
NM_001360016.2(G6PD):c.770+12T>C
|
|
|
NM_001360016.2(G6PD):c.770+8C>T
|
|
|
NM_001360016.2(G6PD):c.770G>A (p.Arg257Gln)
|
|
|
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
|
|
|
NM_001360016.2(G6PD):c.771-13C>A
|
|
|
NM_001360016.2(G6PD):c.771-13C>T
|
|
|
NM_001360016.2(G6PD):c.771-20C>G
|
|
|
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
|
|
|
NM_001360016.2(G6PD):c.786C>T (p.Asn262=)
|
rs1179691681
|
|
NM_001360016.2(G6PD):c.78C>T (p.Phe26=)
|
rs1487624588
|
|
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
|
|
|
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
|
|
|
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
|
|
|
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
|
|
|
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
|
|
|
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
|
|
|
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
|
|
|
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
|
|
|
NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu)
|
|
|
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
|
|
|
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)
|
rs1557230050
|
|
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
|
|
|
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
|
|
|
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
|
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
|
|
|
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
|
|
|
NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly)
|
|
|
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
|
|
|
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
|
|
|
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
|
|
|
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
|
|
|
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly)
|
rs2148329856
|
|
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)
|
rs387906471
|
|
NM_001360016.2(G6PD):c.864+10G>T
|
rs2070368182
|
|
NM_001360016.2(G6PD):c.864+13C>T
|
|
|
NM_001360016.2(G6PD):c.864+16C>G
|
|
|
NM_001360016.2(G6PD):c.864+17A>G
|
|
|
NM_001360016.2(G6PD):c.864+43G>A
|
|
|
NM_001360016.2(G6PD):c.864+44del
|
|
|
NM_001360016.2(G6PD):c.864+7G>A
|
rs782256985
|
|
NM_001360016.2(G6PD):c.864+8dup
|
rs782714017
|
|
NM_001360016.2(G6PD):c.865-18C>T
|
|
|
NM_001360016.2(G6PD):c.867C>T (p.Val289=)
|
|
|
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
|
|
|
NM_001360016.2(G6PD):c.882del (p.Lys293_Cys294insTer)
|
|
|
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
|
|
|
NM_001360016.2(G6PD):c.894G>T (p.Val298=)
|
|
|
NM_001360016.2(G6PD):c.909G>A (p.Val303=)
|
|
|
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
|
|
|
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
|
|
|
NM_001360016.2(G6PD):c.915G>A (p.Leu305=)
|
|
|
NM_001360016.2(G6PD):c.916G>A (p.Gly306Ser)
|
|
|
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
|
|
|
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
|
|
|
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=)
|
|
|
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
|
|
|
NM_001360016.2(G6PD):c.939T>C (p.Asp313=)
|
|
|
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp)
|
rs2148329357
|
|
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
|
|
|
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
|
|
|
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr)
|
rs2070702973
|
|
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
|
|
|
NM_001360016.2(G6PD):c.969G>A (p.Leu323=)
|
rs2148329332
|
|
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
|
|
|
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
|
|
|
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
|
|
|
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
|
|
|
NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del)
|
|
|
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
|
|
|
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
|
|
|
NM_001360016.2(G6PD):c.[1106T>C;499A>T]
|
|
|
NM_001360016.2(G6PD):c.[1116G>A;1311=]
|
|
|
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
|
|
|
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
|
|
|
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
|
|
|
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
|
|
|
NM_001360016.2(G6PD):c.[143T>C;202G>A]
|
|
|
NM_001360016.2(G6PD):c.[143T>C;563C>T]
|
|
|
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
|
|
|
NM_001360016.2(G6PD):c.[202G>A;563C>T]
|
|
|
NM_001360016.2(G6PD):c.[202G>A;871G>A]
|
|
|
NM_001360016.2(G6PD):c.[311G>A;376A>G]
|
|
|
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;463C>G]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;563C>T]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;680G>T]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;871G>A]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;968T>C]
|
|
|
NM_001360016.2(G6PD):c.[769C>A;770G>T]
|
|
|
NM_001365304.2(LOC112694756):c.*1049+12G>A
|
|
|
NM_001365304.2(LOC112694756):c.*1049+17T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1049+20A>G
|
|
|
NM_001365304.2(LOC112694756):c.*1049+3G>A
|
rs2072219927
|
|
NM_001365304.2(LOC112694756):c.*1049+7C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1049+8T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1050-10C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1050-12C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1050-7C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1050-9G>A
|
|
|
NM_001365304.2(LOC112694756):c.*1133+11A>G
|
|
|
NM_001365304.2(LOC112694756):c.*1133+2T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1134-12G>C
|
|
|
NM_001365304.2(LOC112694756):c.*1134-17C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1134-2A>G
|
|
|
NM_001365304.2(LOC112694756):c.*1134-4C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1308+15C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1308+17T>C
|
rs566755208
|
|
NM_001365304.2(LOC112694756):c.*1309-2dup
|
|
|
NM_001365304.2(LOC112694756):c.*1309-7T>G
|
|
|
NM_001365304.2(LOC112694756):c.*1309-8C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1508+9A>T
|
|
|
NM_001365304.2(LOC112694756):c.*1508+9_*1508+19dup
|
|
|
NM_001365304.2(LOC112694756):c.*1509-11T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1509-14C>A
|
|
|
NM_001365304.2(LOC112694756):c.*1509-14C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1509-16C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1509-17C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1509-18A>T
|
|
|
NM_001365304.2(LOC112694756):c.*622-11G>C
|
|
|
NM_001365304.2(LOC112694756):c.*622-15A>G
|
|
|
NM_001365304.2(LOC112694756):c.*622-3del
|
|
|
NM_001365304.2(LOC112694756):c.*622-9C>G
|
|
|
NM_001365304.2(LOC112694756):c.*833+10G>A
|
|
|
NM_001365304.2(LOC112694756):c.*833+16C>T
|
|
|
NM_001365304.2(LOC112694756):c.*833+17C>G
|
rs78209292
|
|
NM_001365304.2(LOC112694756):c.*833+17C>T
|
|
|
NM_001365304.2(LOC112694756):c.*833+18G>A
|
|
|
NM_001365304.2(LOC112694756):c.*833+19G>A
|
|
|
NM_001365304.2(LOC112694756):c.*833+9A>C
|
|
|
NM_001365304.2(LOC112694756):c.*834-14C>T
|
|
|
NM_001365304.2(LOC112694756):c.*834-19G>A
|
|
|
NM_001365304.2(LOC112694756):c.*888+17del
|
rs886051891
|
|
NM_001365304.2(LOC112694756):c.*888+8C>T
|
|
|
NM_001365304.2(LOC112694756):c.*889-3T>C
|
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)
|
|
|
NM_001724.5(BPGM):c.61del (p.Arg21fs)
|
rs786205092
|
|
NM_001724.5(BPGM):c.62G>A (p.Arg21His)
|
|
|
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)
|
rs387907207
|
|
NM_020897.3(HCN3):c.*1354A>G
|
rs1674455124
|
|
PKLR, 1-BP DEL
|
|
|
UROS, 80-BP INS
|
|
|