NM_006660.5(CLPX):c.1146+13G>A
|
rs2946670
|
0.99995
|
NM_000140.5(FECH):c.*2526T>C
|
rs2723680
|
0.99842
|
NM_000140.5(FECH):c.*2825A>G
|
rs8090261
|
0.99840
|
NM_000140.5(FECH):c.314+23A>G
|
rs577152
|
0.98504
|
NM_000031.6(ALAD):c.*1950G>A
|
rs818706
|
0.82956
|
NM_000140.5(FECH):c.*4563G>T
|
rs663774
|
0.76588
|
NM_000097.7(CPOX):c.990A>G (p.Glu330=)
|
rs1729995
|
0.74986
|
NM_000140.5(FECH):c.921A>G (p.Pro307=)
|
rs536560
|
0.74784
|
NM_000190.4(HMBS):c.88-14G>A
|
rs17075
|
0.61715
|
NM_000031.6(ALAD):c.*471C>T
|
rs818708
|
0.56706
|
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)
|
rs643788
|
0.38193
|
NM_001382.4(DPAGT1):c.*184G>A
|
rs8551
|
0.37865
|
NM_000140.5(FECH):c.*1287T>A
|
rs113654252
|
0.36364
|
NM_000031.6(ALAD):c.168T>C (p.Tyr56=)
|
rs1139488
|
0.35967
|
NM_000190.4(HMBS):c.-65C>T
|
rs589925
|
0.34900
|
NM_001122764.3(PPOX):c.-247C>A
|
rs2301286
|
0.34791
|
NM_000097.7(CPOX):c.*162A>C
|
rs1051712
|
0.32562
|
NM_000097.7(CPOX):c.*927G>A
|
rs7103
|
0.30903
|
NM_001382.4(DPAGT1):c.*417T>C
|
rs7759
|
0.29923
|
NM_000140.5(FECH):c.68-23C>T
|
rs2269219
|
0.27629
|
NM_000140.5(FECH):c.*4886T>G
|
rs7238897
|
0.26760
|
NM_000097.7(CPOX):c.814A>C (p.Asn272His)
|
rs1131857
|
0.24099
|
NM_000190.4(HMBS):c.606G>T (p.Val202=)
|
rs1131488
|
0.23280
|
NM_000140.5(FECH):c.*248C>T
|
rs8339
|
0.21849
|
NM_000140.5(FECH):c.*2446G>T
|
rs4940895
|
0.12042
|
NM_000140.5(FECH):c.*3377G>T
|
rs480942
|
0.11174
|
NM_000140.5(FECH):c.287G>A (p.Arg96Gln)
|
rs1041951
|
0.10933
|
NM_000140.5(FECH):c.*2371T>G
|
rs1062010
|
0.10588
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000031.6(ALAD):c.463T>C (p.Leu155=)
|
rs8177807
|
0.08960
|
NM_000031.6(ALAD):c.*613G>A
|
rs818707
|
0.08941
|
NM_000374.5(UROD):c.603A>G (p.Pro201=)
|
rs2228084
|
0.08811
|
NM_000031.6(ALAD):c.397+12C>T
|
rs8177805
|
0.08288
|
NM_000031.6(ALAD):c.414C>T (p.Asn138=)
|
rs2228083
|
0.08221
|
NM_000097.7(CPOX):c.880G>A (p.Val294Ile)
|
rs2228056
|
0.07407
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_000097.7(CPOX):c.33C>T (p.Gly11=)
|
rs60690253
|
0.05919
|
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)
|
rs1800435
|
0.05916
|
NM_001122764.3(PPOX):c.-128C>G
|
rs72714915
|
0.05168
|
NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys)
|
rs11921054
|
0.04947
|
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln)
|
rs60322991
|
0.04800
|
NM_001122764.3(PPOX):c.911G>A (p.Arg304His)
|
rs36013429
|
0.04522
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000374.5(UROD):c.-134T>G
|
rs7536892
|
0.03627
|
NM_000140.5(FECH):c.*2739T>C
|
rs111695226
|
0.03343
|
NM_000097.7(CPOX):c.*679G>A
|
rs72924722
|
0.03180
|
NM_000140.5(FECH):c.*4463A>G
|
rs7228449
|
0.03133
|
NM_000031.5(ALAD):c.-177C>T
|
rs28550589
|
0.02747
|
NM_000140.5(FECH):c.*3601A>G
|
rs73453635
|
0.02742
|
NM_000097.7(CPOX):c.*329G>C
|
rs72924727
|
0.02333
|
NM_000097.7(CPOX):c.*475T>A
|
rs72924726
|
0.02330
|
NM_000140.5(FECH):c.*117C>T
|
rs8099115
|
0.02200
|
NM_000140.5(FECH):c.*4971A>G
|
rs114530851
|
0.02076
|
NM_000031.6(ALAD):c.*1737T>C
|
rs11556126
|
0.01954
|
NM_000140.5(FECH):c.*2451T>G
|
rs55769459
|
0.01725
|
NM_000140.5(FECH):c.*1622T>C
|
rs78359676
|
0.01713
|
NM_000140.5(FECH):c.*696C>T
|
rs76175837
|
0.01710
|
NM_000140.5(FECH):c.*422T>A
|
rs3760612
|
0.01705
|
NM_000140.5(FECH):c.*481A>G
|
rs3760613
|
0.01701
|
NM_000140.5(FECH):c.*3170T>C
|
rs75976774
|
0.01670
|
NM_000140.5(FECH):c.*5588G>A
|
rs78224804
|
0.01585
|
NM_001122764.3(PPOX):c.-151G>T
|
rs115158839
|
0.01570
|
NM_000140.5(FECH):c.*571G>A
|
rs114617188
|
0.01460
|
NM_000097.7(CPOX):c.*73T>C
|
rs139447447
|
0.01421
|
NM_001382.4(DPAGT1):c.*427T>G
|
rs28990975
|
0.01379
|
NM_000031.6(ALAD):c.*1811_*1812del
|
rs142213018
|
0.01239
|
NM_000031.6(ALAD):c.398-13A>G
|
rs34009418
|
0.01082
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_000140.5(FECH):c.*892T>C
|
rs13271
|
0.01039
|
NM_000097.7(CPOX):c.-55G>C
|
rs115030377
|
0.01010
|
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp)
|
rs57467915
|
0.00979
|
NM_000374.5(UROD):c.*3G>A
|
rs74349352
|
0.00902
|
NM_000097.7(CPOX):c.1172+14A>G
|
rs16839985
|
0.00862
|
NM_000140.5(FECH):c.*5801T>G
|
rs139119026
|
0.00849
|
NM_000097.7(CPOX):c.284A>G (p.His95Arg)
|
rs192332456
|
0.00819
|
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)
|
rs149363094
|
0.00792
|
NM_000097.7(CPOX):c.337C>T (p.Leu113=)
|
rs146543713
|
0.00770
|
NM_000140.5(FECH):c.*4106A>G
|
rs72940306
|
0.00744
|
NM_000140.5(FECH):c.*5394G>T
|
rs145935279
|
0.00711
|
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)
|
rs147445258
|
0.00672
|
NM_000097.7(CPOX):c.*1072C>T
|
rs148251059
|
0.00666
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
NM_000097.7(CPOX):c.252G>A (p.Gly84=)
|
rs376917019
|
0.00646
|
NM_000097.7(CPOX):c.165C>T (p.Gly55=)
|
rs563975822
|
0.00634
|
NM_000140.5(FECH):c.*4458C>T
|
rs113000324
|
0.00623
|
NM_000097.7(CPOX):c.*1105A>G
|
rs73133922
|
0.00607
|
NM_000140.5(FECH):c.*3841C>T
|
rs143797631
|
0.00586
|
NM_000140.5(FECH):c.*4883_*4884insC
|
rs201434287
|
0.00582
|
NM_000374.5(UROD):c.952G>A (p.Gly318Arg)
|
rs116233118
|
0.00531
|
NM_000374.5(UROD):c.758T>A (p.Leu253Gln)
|
rs36033115
|
0.00527
|
NM_000374.5(UROD):c.450G>A (p.Pro150=)
|
rs2234479
|
0.00475
|
NM_000097.7(CPOX):c.*595C>A
|
rs183311654
|
0.00442
|
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)
|
rs145526996
|
0.00431
|
NM_000140.5(FECH):c.*2441G>T
|
rs886053982
|
0.00424
|
NM_000190.4(HMBS):c.-28A>C
|
rs201349602
|
0.00371
|
NM_000031.6(ALAD):c.468G>A (p.Ala156=)
|
rs41305619
|
0.00348
|
NM_000097.7(CPOX):c.*227G>A
|
rs146214523
|
0.00330
|
NM_001382.4(DPAGT1):c.*159G>A
|
rs74992671
|
0.00320
|
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)
|
rs150221689
|
0.00303
|
NM_000140.5(FECH):c.*5140G>A
|
rs55987829
|
0.00301
|
NM_000140.5(FECH):c.*1479T>C
|
rs112062178
|
0.00287
|
NM_000140.5(FECH):c.*3567G>A
|
rs556538397
|
0.00273
|
NM_000031.6(ALAD):c.*317T>G
|
rs538745327
|
0.00245
|
NM_000097.7(CPOX):c.*136G>C
|
rs142440038
|
0.00243
|
NM_000140.5(FECH):c.*4597T>C
|
rs147684323
|
0.00237
|
NM_000140.5(FECH):c.*2788G>A
|
rs145954113
|
0.00234
|
NM_000031.6(ALAD):c.*771C>T
|
rs149384214
|
0.00230
|
NM_001122764.3(PPOX):c.-246G>T
|
rs114493458
|
0.00229
|
NM_000097.7(CPOX):c.*195T>C
|
rs139248891
|
0.00215
|
NM_000140.5(FECH):c.*936C>T
|
rs144709743
|
0.00200
|
NM_000031.6(ALAD):c.15C>T (p.Ser5=)
|
rs144608303
|
0.00195
|
NM_000097.7(CPOX):c.-54C>T
|
rs75986763
|
0.00193
|
NM_000097.7(CPOX):c.556+9G>A
|
rs184983281
|
0.00193
|
NM_000140.5(FECH):c.*347G>A
|
rs113392534
|
0.00192
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
NM_000031.6(ALAD):c.*363G>A
|
rs576008526
|
0.00175
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_000140.5(FECH):c.*4056C>T
|
rs181920623
|
0.00166
|
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)
|
rs149202834
|
0.00166
|
NM_000140.5(FECH):c.*3339G>A
|
rs113928110
|
0.00159
|
NM_000097.7(CPOX):c.212G>C (p.Gly71Ala)
|
rs572522263
|
0.00143
|
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=)
|
rs112762537
|
0.00140
|
NM_000374.4(UROD):c.-52C>A
|
rs41269103
|
0.00136
|
NM_000140.5(FECH):c.185C>G (p.Pro62Arg)
|
rs150830931
|
0.00124
|
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys)
|
rs190528998
|
0.00115
|
NM_000031.6(ALAD):c.*1803A>G
|
rs41276803
|
0.00113
|
NM_000140.5(FECH):c.*4367C>T
|
rs146417207
|
0.00112
|
NM_000031.6(ALAD):c.*400G>A
|
rs557867804
|
0.00110
|
NM_000140.5(FECH):c.801G>A (p.Met267Ile)
|
rs118204037
|
0.00108
|
NM_000140.5(FECH):c.*3804G>A
|
rs190604320
|
0.00107
|
NM_001122764.3(PPOX):c.87+13C>T
|
rs201155115
|
0.00103
|
NM_000190.4(HMBS):c.210+5C>A
|
rs79983883
|
0.00102
|
NM_000410.4(HFE):c.502G>C (p.Glu168Gln)
|
rs146519482
|
0.00102
|
NM_000140.5(FECH):c.*5143C>T
|
rs139987131
|
0.00101
|
NM_000140.5(FECH):c.*4829C>T
|
rs565989254
|
0.00093
|
NM_000374.5(UROD):c.474+15G>C
|
rs369108963
|
0.00076
|
NM_000410.4(HFE):c.18G>C (p.Arg6Ser)
|
rs149342416
|
0.00072
|
NM_000140.5(FECH):c.598+12T>A
|
rs370521491
|
0.00071
|
NM_001122764.3(PPOX):c.617-6C>T
|
rs200192089
|
0.00071
|
NM_000190.4(HMBS):c.135G>A (p.Ser45=)
|
rs146801283
|
0.00070
|
NM_000140.5(FECH):c.*1915G>T
|
rs148459563
|
0.00067
|
NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys)
|
rs190919484
|
0.00067
|
NM_000410.4(HFE):c.*603C>T
|
rs62625353
|
0.00063
|
NM_000140.5(FECH):c.*5090G>A
|
rs776370345
|
0.00060
|
NM_000031.6(ALAD):c.-131C>T
|
rs531786276
|
0.00058
|
NM_000190.4(HMBS):c.1020C>T (p.Asn340=)
|
rs146585331
|
0.00057
|
NM_000031.6(ALAD):c.*1464A>G
|
rs559359572
|
0.00053
|
NM_000140.5(FECH):c.*4445G>A
|
rs578202706
|
0.00053
|
NM_000097.7(CPOX):c.*939A>G
|
rs539237301
|
0.00051
|
NM_000190.4(HMBS):c.257A>T (p.Glu86Val)
|
rs150763621
|
0.00051
|
NM_000140.5(FECH):c.*1508G>A
|
rs540286571
|
0.00048
|
NM_000410.4(HFE):c.*198C>T
|
rs544604880
|
0.00048
|
NM_000140.5(FECH):c.*1567A>G
|
rs574153215
|
0.00044
|
NM_000097.7(CPOX):c.395C>T (p.Ala132Val)
|
rs147219463
|
0.00043
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
NM_000031.6(ALAD):c.715-14C>A
|
rs201135240
|
0.00041
|
NM_000097.7(CPOX):c.-56G>C
|
rs184287214
|
0.00041
|
NM_000031.6(ALAD):c.*1473G>A
|
rs1062685
|
0.00040
|
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn)
|
rs144949995
|
0.00039
|
NM_000031.6(ALAD):c.*422G>T
|
rs41276805
|
0.00038
|
NM_000140.5(FECH):c.*3129C>T
|
rs137955859
|
0.00038
|
NM_000097.7(CPOX):c.*95G>A
|
rs2229123
|
0.00037
|
NM_001122764.3(PPOX):c.471+3G>A
|
rs200920978
|
0.00037
|
NM_000140.5(FECH):c.*1032G>A
|
rs140863287
|
0.00034
|
NM_000140.5(FECH):c.*2443T>G
|
rs201834035
|
0.00034
|
NM_000031.6(ALAD):c.*813A>G
|
rs138705750
|
0.00033
|
NM_000190.4(HMBS):c.*101G>A
|
rs565181447
|
0.00033
|
NM_001122764.3(PPOX):c.-251G>C
|
rs368129128
|
0.00033
|
NM_000097.7(CPOX):c.*381C>T
|
rs141236816
|
0.00032
|
NM_000374.5(UROD):c.442C>T (p.Arg148Cys)
|
rs147374926
|
0.00032
|
NM_000031.6(ALAD):c.72C>T (p.Thr24=)
|
rs1805314
|
0.00029
|
NM_001382.4(DPAGT1):c.*265A>G
|
rs28990974
|
0.00029
|
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu)
|
rs138776835
|
0.00028
|
NM_000374.5(UROD):c.774+12G>A
|
rs186269864
|
0.00027
|
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)
|
rs28931603
|
0.00025
|
NM_000031.6(ALAD):c.-75-11A>G
|
rs187909805
|
0.00024
|
NM_000140.5(FECH):c.*394C>G
|
rs781751487
|
0.00024
|
NM_000140.5(FECH):c.*4077C>T
|
rs548648988
|
0.00024
|
NM_000031.6(ALAD):c.*1381G>A
|
rs140946306
|
0.00023
|
NM_000097.7(CPOX):c.954-15C>T
|
rs200327383
|
0.00023
|
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln)
|
rs142459647
|
0.00023
|
NM_000031.5(ALAD):c.-156C>A
|
rs562413861
|
0.00022
|
NM_000031.6(ALAD):c.29G>C (p.Gly10Ala)
|
rs199655229
|
0.00022
|
NM_000140.5(FECH):c.913-13A>G
|
rs200538834
|
0.00022
|
NM_000031.6(ALAD):c.874G>A (p.Gly292Arg)
|
rs200781693
|
0.00021
|
NM_000374.4(UROD):c.*80A>G
|
rs144315045
|
0.00021
|
NM_001122764.3(PPOX):c.-1C>T
|
rs148045152
|
0.00021
|
NM_000140.5(FECH):c.*1054T>C
|
rs192343321
|
0.00020
|
NM_000374.5(UROD):c.390G>T (p.Glu130Asp)
|
rs138585833
|
0.00020
|
NM_000031.6(ALAD):c.*1832T>C
|
rs903858525
|
0.00019
|
NM_000031.6(ALAD):c.277G>A (p.Ala93Thr)
|
rs138313868
|
0.00019
|
NM_000097.7(CPOX):c.*340A>G
|
rs886058945
|
0.00017
|
NM_000097.7(CPOX):c.510A>G (p.Val170=)
|
rs200869871
|
0.00017
|
NM_000031.6(ALAD):c.724G>A (p.Val242Ile)
|
rs200180791
|
0.00016
|
NM_000097.7(CPOX):c.520G>A (p.Ala174Thr)
|
rs199514514
|
0.00016
|
NM_000140.5(FECH):c.*2644A>G
|
rs558443758
|
0.00016
|
NM_000140.5(FECH):c.*4720T>C
|
rs760022638
|
0.00016
|
NM_000190.4(HMBS):c.1026G>A (p.Leu342=)
|
rs199845143
|
0.00016
|
NM_000374.4(UROD):c.-51T>C
|
rs370067756
|
0.00016
|
NM_000031.6(ALAD):c.678G>T (p.Leu226=)
|
rs190497588
|
0.00015
|
NM_000097.7(CPOX):c.*1046A>G
|
rs763864217
|
0.00015
|
NM_000140.5(FECH):c.132C>T (p.Ala44=)
|
rs147500247
|
0.00015
|
NM_000140.5(FECH):c.*2450_*2451insG
|
rs886053980
|
0.00014
|
NM_000140.5(FECH):c.139A>G (p.Thr47Ala)
|
rs144831860
|
0.00014
|
NM_000097.7(CPOX):c.*506C>T
|
rs886058943
|
0.00013
|
NM_000140.5(FECH):c.819C>T (p.Gly273=)
|
rs138840143
|
0.00013
|
NM_000031.6(ALAD):c.264C>T (p.Asp88=)
|
rs377534006
|
0.00012
|
NM_000190.4(HMBS):c.723C>T (p.Pro241=)
|
rs202067277
|
0.00012
|
NM_000031.6(ALAD):c.940A>G (p.Ile314Val)
|
rs557510313
|
0.00011
|
NM_000097.7(CPOX):c.*712T>C
|
rs893225316
|
0.00011
|
NM_000097.7(CPOX):c.299A>T (p.Glu100Val)
|
rs367822877
|
0.00011
|
NM_000140.5(FECH):c.*2079C>T
|
rs886053983
|
0.00011
|
NM_000140.5(FECH):c.*2782G>T
|
rs886053975
|
0.00011
|
NM_000190.4(HMBS):c.717C>T (p.His239=)
|
rs114025170
|
0.00011
|
NM_000031.5(ALAD):c.-197G>T
|
rs376588496
|
0.00010
|
NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys)
|
rs769181980
|
0.00010
|
NM_000031.6(ALAD):c.784C>T (p.Arg262Trp)
|
rs777485356
|
0.00010
|
NM_000097.7(CPOX):c.*1174G>A
|
rs886058940
|
0.00010
|
NM_000097.7(CPOX):c.*498_*499insCA
|
rs886058944
|
0.00010
|
NM_000140.5(FECH):c.385G>A (p.Gly129Arg)
|
rs138714094
|
0.00010
|
NM_000374.5(UROD):c.158A>G (p.Gln53Arg)
|
rs199597323
|
0.00010
|
NM_000374.5(UROD):c.745C>T (p.Arg249Trp)
|
rs137978913
|
0.00010
|
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)
|
rs121917868
|
0.00009
|
NM_000140.5(FECH):c.*1950A>G
|
rs886053985
|
0.00009
|
NM_000140.5(FECH):c.*1966G>T
|
rs779669357
|
0.00009
|
NM_000190.4(HMBS):c.612+4G>A
|
rs745705652
|
0.00009
|
NM_001122764.3(PPOX):c.360C>T (p.Pro120=)
|
rs148730591
|
0.00009
|
NM_000140.5(FECH):c.*3691C>T
|
rs148141502
|
0.00008
|
NM_000190.4(HMBS):c.798C>T (p.Ala266=)
|
rs375078473
|
0.00008
|
NM_000140.5(FECH):c.*5349C>T
|
rs189146107
|
0.00007
|
NM_000140.5(FECH):c.820G>A (p.Asp274Asn)
|
rs146269992
|
0.00007
|
NM_000140.5(FECH):c.959A>G (p.Lys320Arg)
|
rs371224528
|
0.00007
|
NM_000031.5(ALAD):c.-160_-159insA
|
rs886063365
|
0.00006
|
NM_000031.6(ALAD):c.16G>A (p.Val6Ile)
|
rs766501537
|
0.00006
|
NM_000031.6(ALAD):c.439C>T (p.Arg147Cys)
|
rs777664535
|
0.00006
|
NM_000031.6(ALAD):c.501G>A (p.Pro167=)
|
rs376714503
|
0.00006
|
NM_000097.7(CPOX):c.-86C>T
|
rs983628005
|
0.00006
|
NM_000097.7(CPOX):c.47T>G (p.Val16Gly)
|
rs941183666
|
0.00006
|
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)
|
rs150146721
|
0.00006
|
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu)
|
rs148084355
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000374.5(UROD):c.*45C>T
|
rs371078664
|
0.00006
|
NM_000374.5(UROD):c.27G>C (p.Gln9His)
|
rs150027651
|
0.00006
|
NM_001122764.3(PPOX):c.1248+4A>G
|
rs775748399
|
0.00006
|
NM_001122764.3(PPOX):c.936G>A (p.Val312=)
|
rs751511778
|
0.00006
|
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)
|
rs121912980
|
0.00005
|
NM_000031.6(ALAD):c.870G>A (p.Gln290=)
|
rs759917153
|
0.00005
|
NM_000097.7(CPOX):c.1266T>A (p.Pro422=)
|
rs563304155
|
0.00005
|
NM_000140.5(FECH):c.*2060C>T
|
rs886053984
|
0.00005
|
NM_000140.5(FECH):c.*2600G>A
|
rs886053976
|
0.00005
|
NM_000140.5(FECH):c.*3716C>T
|
rs567960865
|
0.00005
|
NM_000140.5(FECH):c.*4449A>G
|
rs886053968
|
0.00005
|
NM_000140.5(FECH):c.*5247T>C
|
rs375220859
|
0.00005
|
NM_000190.4(HMBS):c.737G>A (p.Arg246His)
|
rs201909197
|
0.00005
|
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)
|
rs28936677
|
0.00005
|
NM_000031.6(ALAD):c.*643G>T
|
rs182766085
|
0.00004
|
NM_000031.6(ALAD):c.-70G>T
|
rs774433320
|
0.00004
|
NM_000031.6(ALAD):c.241G>A (p.Val81Ile)
|
rs200963049
|
0.00004
|
NM_000031.6(ALAD):c.692G>A (p.Arg231Gln)
|
rs201420740
|
0.00004
|
NM_000031.6(ALAD):c.801+14C>T
|
rs369933664
|
0.00004
|
NM_000140.5(FECH):c.*2599C>T
|
rs886053977
|
0.00004
|
NM_000140.5(FECH):c.*3656C>T
|
rs886053974
|
0.00004
|
NM_000140.5(FECH):c.*4528C>T
|
rs564734119
|
0.00004
|
NM_000140.5(FECH):c.*60T>C
|
rs886053996
|
0.00004
|
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp)
|
rs769409620
|
0.00004
|
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)
|
rs118204101
|
0.00004
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser)
|
rs767103817
|
0.00004
|
NM_000190.4(HMBS):c.885G>A (p.Met295Ile)
|
rs749688624
|
0.00004
|
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)
|
rs746707121
|
0.00004
|
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln)
|
rs781674367
|
0.00004
|
NM_000190.4(HMBS):c.992C>T (p.Ala331Val)
|
rs770086296
|
0.00004
|
NM_000374.5(UROD):c.578G>A (p.Arg193His)
|
rs143823335
|
0.00004
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000410.4(HFE):c.676C>T (p.Arg226Trp)
|
rs781516027
|
0.00004
|
NM_001122764.3(PPOX):c.-211C>A
|
rs140693401
|
0.00004
|
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu)
|
rs772971420
|
0.00004
|
NM_000031.6(ALAD):c.*381G>A
|
rs886063363
|
0.00003
|
NM_000031.6(ALAD):c.-76+15G>T
|
rs756965057
|
0.00003
|
NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu)
|
rs201231166
|
0.00003
|
NM_000097.7(CPOX):c.1173G>T (p.Arg391=)
|
rs374136925
|
0.00003
|
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)
|
rs1374394802
|
0.00003
|
NM_000140.5(FECH):c.*2513G>A
|
rs886053978
|
0.00003
|
NM_000140.5(FECH):c.*3719C>T
|
rs886053973
|
0.00003
|
NM_000140.5(FECH):c.*3788A>G
|
rs886053971
|
0.00003
|
NM_000140.5(FECH):c.*4336A>G
|
rs769571284
|
0.00003
|
NM_000140.5(FECH):c.*4337G>A
|
rs747976113
|
0.00003
|
NM_000140.5(FECH):c.*4363G>A
|
rs375097125
|
0.00003
|
NM_000140.5(FECH):c.202A>G (p.Lys68Glu)
|
rs756377185
|
0.00003
|
NM_000140.5(FECH):c.314+2T>G
|
rs149067146
|
0.00003
|
NM_000190.4(HMBS):c.303C>T (p.Pro101=)
|
rs139147408
|
0.00003
|
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys)
|
rs761810461
|
0.00003
|
NM_000374.5(UROD):c.636+1G>C
|
rs145195562
|
0.00003
|
NM_000374.5(UROD):c.842G>T (p.Gly281Val)
|
rs121918057
|
0.00003
|
NM_001122764.3(PPOX):c.-149G>T
|
rs186428034
|
0.00003
|
NM_000031.6(ALAD):c.*127C>T
|
rs561104906
|
0.00002
|
NM_000031.6(ALAD):c.*498C>T
|
rs1025631016
|
0.00002
|
NM_000031.6(ALAD):c.715G>A (p.Asp239Asn)
|
rs752186527
|
0.00002
|
NM_000097.7(CPOX):c.*66G>A
|
rs886058947
|
0.00002
|
NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu)
|
rs778583962
|
0.00002
|
NM_000097.7(CPOX):c.1172+7G>A
|
rs778215224
|
0.00002
|
NM_000097.7(CPOX):c.167C>T (p.Thr56Met)
|
rs886058948
|
0.00002
|
NM_000097.7(CPOX):c.178C>G (p.Arg60Gly)
|
rs780436492
|
0.00002
|
NM_000097.7(CPOX):c.557-3C>T
|
rs750156215
|
0.00002
|
NM_000140.5(FECH):c.913G>T (p.Val305Phe)
|
rs765518889
|
0.00002
|
NM_000190.4(HMBS):c.105G>C (p.Thr35=)
|
rs370081222
|
0.00002
|
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu)
|
rs368061837
|
0.00002
|
NM_000190.4(HMBS):c.64C>T (p.Arg22Cys)
|
rs189159450
|
0.00002
|
NM_000374.4(UROD):c.-67G>A
|
rs767012968
|
0.00002
|
NM_000410.4(HFE):c.546_547del (p.Leu183fs)
|
rs765804978
|
0.00002
|
NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys)
|
rs751599052
|
0.00002
|
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile)
|
rs145286580
|
0.00002
|
NM_000031.6(ALAD):c.*1511T>C
|
rs745513769
|
0.00001
|
NM_000031.6(ALAD):c.*1631G>A
|
rs886063359
|
0.00001
|
NM_000031.6(ALAD):c.-4C>T
|
rs755977870
|
0.00001
|
NM_000031.6(ALAD):c.474C>G (p.Ala158=)
|
rs1340298448
|
0.00001
|
NM_000031.6(ALAD):c.521G>A (p.Arg174His)
|
rs750462706
|
0.00001
|
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)
|
rs121912982
|
0.00001
|
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr)
|
rs121912983
|
0.00001
|
NM_000031.6(ALAD):c.823G>A (p.Val275Met)
|
rs121912981
|
0.00001
|
NM_000031.6(ALAD):c.897C>T (p.Ala299=)
|
rs370242589
|
0.00001
|
NM_000097.7(CPOX):c.*194G>T
|
rs886058946
|
0.00001
|
NM_000097.7(CPOX):c.*351A>G
|
rs1354893013
|
0.00001
|
NM_000097.7(CPOX):c.*516A>C
|
rs1402867317
|
0.00001
|
NM_000097.7(CPOX):c.*633A>C
|
rs886058942
|
0.00001
|
NM_000097.7(CPOX):c.-43G>C
|
rs763595872
|
0.00001
|
NM_000097.7(CPOX):c.-87C>T
|
rs908936882
|
0.00001
|
NM_000097.7(CPOX):c.1028A>T (p.Asp343Val)
|
rs201071538
|
0.00001
|
NM_000097.7(CPOX):c.1149G>A (p.Leu383=)
|
rs533745033
|
0.00001
|
NM_000097.7(CPOX):c.348G>C (p.Pro116=)
|
rs140566686
|
0.00001
|
NM_000097.7(CPOX):c.766A>G (p.Thr256Ala)
|
rs77432735
|
0.00001
|
NM_000140.3(FECH):c.1078_1137del
|
rs879255507
|
0.00001
|
NM_000140.5(FECH):c.*4237A>G
|
rs886053969
|
0.00001
|
NM_000140.5(FECH):c.*443A>C
|
rs886053994
|
0.00001
|
NM_000140.5(FECH):c.*55C>T
|
rs886053997
|
0.00001
|
NM_000140.5(FECH):c.1078-6A>G
|
rs2050796264
|
0.00001
|
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr)
|
rs1324421474
|
0.00001
|
NM_000140.5(FECH):c.514G>A (p.Glu172Lys)
|
rs200650502
|
0.00001
|
NM_000140.5(FECH):c.599-3C>T
|
rs765069812
|
0.00001
|
NM_000140.5(FECH):c.854A>G (p.Gln285Arg)
|
rs370708663
|
0.00001
|
NM_000140.5(FECH):c.912+14A>G
|
rs886053999
|
0.00001
|
NM_000140.5(FECH):c.935G>T (p.Gly312Val)
|
rs886053998
|
0.00001
|
NM_000190.4(HMBS):c.*194A>G
|
rs886047756
|
0.00001
|
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)
|
rs118204106
|
0.00001
|
NM_000190.4(HMBS):c.345-9C>T
|
rs772934410
|
0.00001
|
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp)
|
rs118204094
|
0.00001
|
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln)
|
rs1165046276
|
0.00001
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00001
|
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys)
|
rs34413634
|
0.00001
|
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)
|
rs118204113
|
0.00001
|
NM_000190.4(HMBS):c.768C>A (p.His256Gln)
|
rs758794172
|
0.00001
|
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr)
|
rs1057519252
|
0.00001
|
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser)
|
rs772616498
|
0.00001
|
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr)
|
rs118204104
|
0.00001
|
NM_000374.5(UROD):c.138T>A (p.Phe46Leu)
|
rs769378741
|
0.00001
|
NM_000374.5(UROD):c.346C>T (p.Gln116Ter)
|
rs397514765
|
0.00001
|
NM_000374.5(UROD):c.494T>G (p.Met165Arg)
|
rs121918063
|
0.00001
|
NM_000374.5(UROD):c.561T>C (p.Ala187=)
|
rs780519904
|
0.00001
|
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)
|
rs771824413
|
0.00001
|
NM_000374.5(UROD):c.679C>G (p.Gln227Glu)
|
rs546150911
|
0.00001
|
NM_000374.5(UROD):c.738C>T (p.Ala246=)
|
rs757178659
|
0.00001
|
NM_000374.5(UROD):c.912C>A (p.Asn304Lys)
|
rs121918065
|
0.00001
|
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)
|
rs121918061
|
0.00001
|
NM_000410.4(HFE):c.766G>A (p.Val256Ile)
|
rs202068193
|
0.00001
|
NM_001098.3(ACO2):c.76C>T (p.Leu26=)
|
rs1057518832
|
0.00001
|
NM_001122764.3(PPOX):c.-180T>C
|
rs886045450
|
0.00001
|
NM_001122764.3(PPOX):c.-2G>T
|
rs779526273
|
0.00001
|
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)
|
rs374936130
|
0.00001
|
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)
|
rs754313121
|
0.00001
|
NM_001122764.3(PPOX):c.503G>A (p.Arg168His)
|
rs41270025
|
0.00001
|
NM_001122764.3(PPOX):c.597G>T (p.Leu199=)
|
rs769659160
|
0.00001
|
NM_001122764.3(PPOX):c.646A>G (p.Ile216Val)
|
rs758572020
|
0.00001
|
NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)
|
rs541845688
|
0.00001
|
NG_008093.1:g.9237_9238insAluYa59225_9237dup
|
|
|
NM_000031.5(ALAD):c.-155C>G
|
rs7026518
|
|
NM_000031.5(ALAD):c.-157_-156insCG
|
rs879417667
|
|
NM_000031.5(ALAD):c.-162_-159dup
|
rs143518565
|
|
NM_000031.5(ALAD):c.-162_-161dup
|
rs143518565
|
|
NM_000031.5(ALAD):c.-162dup
|
rs143518565
|
|
NM_000031.6(ALAD):c.*1007G>A
|
rs8177823
|
|
NM_000031.6(ALAD):c.*106C>G
|
rs8177820
|
|
NM_000031.6(ALAD):c.*1280G>A
|
rs190137021
|
|
NM_000031.6(ALAD):c.*1280G>C
|
rs190137021
|
|
NM_000031.6(ALAD):c.*12C>T
|
rs1827462434
|
|
NM_000031.6(ALAD):c.*1322G>A
|
rs11789221
|
|
NM_000031.6(ALAD):c.*1470G>A
|
rs886063360
|
|
NM_000031.6(ALAD):c.*1671A>T
|
rs1827403039
|
|
NM_000031.6(ALAD):c.*1675C>T
|
rs756771103
|
|
NM_000031.6(ALAD):c.*1741G>A
|
rs886063358
|
|
NM_000031.6(ALAD):c.*1787A>C
|
rs1588080129
|
|
NM_000031.6(ALAD):c.*1804T>C
|
rs1327333635
|
|
NM_000031.6(ALAD):c.*1864A>C
|
rs886063357
|
|
NM_000031.6(ALAD):c.*1915del
|
rs886063356
|
|
NM_000031.6(ALAD):c.*234G>A
|
rs1023159630
|
|
NM_000031.6(ALAD):c.*438G>C
|
rs886063362
|
|
NM_000031.6(ALAD):c.*459_*463del
|
rs886063361
|
|
NM_000031.6(ALAD):c.*676dup
|
rs532401659
|
|
NM_000031.6(ALAD):c.*760T>C
|
rs1827430851
|
|
NM_000031.6(ALAD):c.*871C>A
|
rs8177822
|
|
NM_000031.6(ALAD):c.*920C>T
|
rs1827424865
|
|
NM_000031.6(ALAD):c.165-11C>A
|
rs749066913
|
|
NM_000031.6(ALAD):c.165-11C>T
|
rs749066913
|
|
NM_000031.6(ALAD):c.1A>G (p.Met1Val)
|
rs752500552
|
|
NM_000031.6(ALAD):c.415G>A (p.Gly139Arg)
|
|
|
NM_000031.6(ALAD):c.446G>A (p.Arg149Gln)
|
rs528493383
|
|
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys)
|
rs758622234
|
|
NM_000031.6(ALAD):c.910A>G (p.Met304Val)
|
rs1588081960
|
|
NM_000031.6(ALAD):c.931+15G>A
|
rs886063364
|
|
NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val)
|
rs1557247532
|
|
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter)
|
rs397514730
|
|
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs)
|
rs879255567
|
|
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)
|
rs387906473
|
|
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)
|
rs387906472
|
|
NM_000097.7(CPOX):c.*1076G>A
|
rs775384142
|
|
NM_000097.7(CPOX):c.*1153G>C
|
rs886058941
|
|
NM_000097.7(CPOX):c.*183A>G
|
rs1707237180
|
|
NM_000097.7(CPOX):c.*28del
|
rs144234554
|
|
NM_000097.7(CPOX):c.*578_*579insTTCTTA
|
rs3840202
|
|
NM_000097.7(CPOX):c.*745A>G
|
rs1707219701
|
|
NM_000097.7(CPOX):c.-10G>A
|
rs867711777
|
|
NM_000097.7(CPOX):c.-7C>G
|
rs1010766291
|
|
NM_000097.7(CPOX):c.1230A>G (p.Pro410=)
|
rs1707257247
|
|
NM_000097.7(CPOX):c.125G>C (p.Ser42Thr)
|
rs886058951
|
|
NM_000097.7(CPOX):c.130G>T (p.Ala44Ser)
|
rs886058950
|
|
NM_000097.7(CPOX):c.156C>G (p.Gly52=)
|
rs886058949
|
|
NM_000097.7(CPOX):c.348GGA[7] (p.Glu119_Glu120dup)
|
rs749870062
|
|
NM_000097.7(CPOX):c.458A>T (p.Glu153Val)
|
rs1707510560
|
|
NM_000097.7(CPOX):c.474G>C (p.Glu158Asp)
|
rs1707510266
|
|
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter)
|
rs1576306536
|
|
NM_000097.7(CPOX):c.487G>T (p.Val163Leu)
|
rs535432218
|
|
NM_000097.7(CPOX):c.530C>T (p.Ser177Phe)
|
rs1707508760
|
|
NM_000097.7(CPOX):c.612G>A (p.Gly204=)
|
rs149384011
|
|
NM_000097.7(CPOX):c.651A>G (p.Glu217=)
|
rs138479596
|
|
NM_000097.7(CPOX):c.700+2T>C
|
rs1576304776
|
|
NM_000097.7(CPOX):c.811+14G>A
|
rs1707460318
|
|
NM_000097.7(CPOX):c.86A>C (p.Gln29Pro)
|
rs886058952
|
|
NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)
|
|
|
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
|
|
|
NM_000140.5(FECH):c.*1039G>A
|
rs185134664
|
|
NM_000140.5(FECH):c.*1071C>G
|
rs886053992
|
|
NM_000140.5(FECH):c.*1170T>A
|
rs886053991
|
|
NM_000140.5(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA
|
rs886053988
|
|
NM_000140.5(FECH):c.*1173A>T
|
rs868017208
|
|
NM_000140.5(FECH):c.*1175G>A
|
rs886053990
|
|
NM_000140.5(FECH):c.*1176G>A
|
rs886053989
|
|
NM_000140.5(FECH):c.*1287_*1288insTA
|
rs59569925
|
|
NM_000140.5(FECH):c.*1287_*1288insTTTA
|
rs59569925
|
|
NM_000140.5(FECH):c.*1348T>G
|
rs886053987
|
|
NM_000140.5(FECH):c.*136G>C
|
rs886053995
|
|
NM_000140.5(FECH):c.*1453T>C
|
rs886053986
|
|
NM_000140.5(FECH):c.*2436GTTTT[2]
|
rs886053981
|
|
NM_000140.5(FECH):c.*2451_*2452insG
|
rs1555678907
|
|
NM_000140.5(FECH):c.*2459_*2461dup
|
rs529946604
|
|
NM_000140.5(FECH):c.*2461dup
|
rs529946604
|
|
NM_000140.5(FECH):c.*2840C>T
|
rs568628377
|
|
NM_000140.5(FECH):c.*3753_*3754insT
|
rs886053972
|
|
NM_000140.5(FECH):c.*3976C>T
|
rs886053970
|
|
NM_000140.5(FECH):c.*4368G>A
|
rs543603003
|
|
NM_000140.5(FECH):c.*4598T>G
|
rs886053967
|
|
NM_000140.5(FECH):c.*4793TTA[1]
|
rs137860528
|
|
NM_000140.5(FECH):c.*4891dup
|
rs146687823
|
|
NM_000140.5(FECH):c.*5139C>T
|
rs151197779
|
|
NM_000140.5(FECH):c.*5170T>C
|
rs886053966
|
|
NM_000140.5(FECH):c.*5628C>A
|
rs13732
|
|
NM_000140.5(FECH):c.*592C>T
|
rs577112809
|
|
NM_000140.5(FECH):c.*825T>C
|
rs886053993
|
|
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
|
|
|
NM_000140.5(FECH):c.1077+1G>A
|
rs786205245
|
|
NM_000140.5(FECH):c.1085T>G (p.Val362Gly)
|
rs118204040
|
|
NM_000140.5(FECH):c.1136del (p.Lys379fs)
|
rs764466739
|
|
NM_000140.5(FECH):c.1137+3A>G
|
rs202147607
|
|
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser)
|
rs118204039
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000140.5(FECH):c.181C>T (p.Gln61Ter)
|
rs2122357230
|
|
NM_000140.5(FECH):c.194+11A>G
|
rs786205247
|
|
NM_000140.5(FECH):c.229G>A (p.Gly77Arg)
|
rs2051141708
|
|
NM_000140.5(FECH):c.286C>T (p.Arg96Ter)
|
rs984041251
|
|
NM_000140.5(FECH):c.314+6A>C
|
rs786205246
|
|
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)
|
|
|
NM_000140.5(FECH):c.365del (p.Gln122fs)
|
rs1599003455
|
|
NM_000140.5(FECH):c.40del (p.Ala14fs)
|
|
|
NM_000140.5(FECH):c.464-4A>G
|
rs1265864647
|
|
NM_000140.5(FECH):c.47del (p.Gly16fs)
|
rs2051380165
|
|
NM_000140.5(FECH):c.553G>A (p.Ala185Thr)
|
rs397514476
|
|
NM_000140.5(FECH):c.580_584del (p.Tyr194fs)
|
rs786205248
|
|
NM_000140.5(FECH):c.598+1G>T
|
rs1598996309
|
|
NM_000140.5(FECH):c.798C>G (p.Pro266=)
|
rs536765
|
|
NM_000140.5(FECH):c.901_902del (p.Trp301fs)
|
rs1430926156
|
|
NM_000140.5(FECH):c.913-7C>T
|
rs369538477
|
|
NM_000190.4(HMBS):c.*153G>A
|
rs550995668
|
|
NM_000190.4(HMBS):c.*94T>C
|
rs886047755
|
|
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys)
|
rs118204105
|
|
NM_000190.4(HMBS):c.104C>T (p.Thr35Met)
|
rs974712040
|
|
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)
|
rs1555206402
|
|
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser)
|
rs1565750711
|
|
NM_000190.4(HMBS):c.160+5G>C
|
rs1592213590
|
|
NM_000190.4(HMBS):c.174del (p.Thr59fs)
|
rs1565754285
|
|
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr)
|
rs2134859037
|
|
NM_000190.4(HMBS):c.181dup (p.Asp61fs)
|
rs1565754296
|
|
NM_000190.4(HMBS):c.186G>C (p.Lys62Asn)
|
rs1402435019
|
|
NM_000190.4(HMBS):c.210+1G>C
|
rs2134859316
|
|
NM_000190.4(HMBS):c.211-1G>A
|
rs1565754452
|
|
NM_000190.4(HMBS):c.211-1G>T
|
rs1565754452
|
|
NM_000190.4(HMBS):c.219_220del (p.Ser75fs)
|
rs1592214498
|
|
NM_000190.4(HMBS):c.232A>T (p.Thr78Ser)
|
rs1565754479
|
|
NM_000190.4(HMBS):c.266+1G>C
|
rs1565754565
|
|
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro)
|
rs1946187914
|
|
NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)
|
|
|
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg)
|
rs118204107
|
|
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)
|
rs143984293
|
|
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)
|
rs1057518886
|
|
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)
|
rs118204120
|
|
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln)
|
rs118204098
|
|
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter)
|
rs118204097
|
|
NM_000190.4(HMBS):c.499-1G>A
|
rs1565756481
|
|
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu)
|
rs118204095
|
|
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln)
|
rs118204096
|
|
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
|
|
|
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg)
|
rs118204108
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
|
|
|
NM_000190.4(HMBS):c.584G>A (p.Arg195His)
|
rs1364712093
|
|
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter)
|
rs118204100
|
|
NM_000190.4(HMBS):c.605dup (p.Gln204fs)
|
|
|
NM_000190.4(HMBS):c.612G>T (p.Gln204His)
|
rs1592217847
|
|
NM_000190.4(HMBS):c.613-19C>A
|
rs1784304
|
|
NM_000190.4(HMBS):c.613-1G>A
|
rs771206317
|
|
NM_000190.4(HMBS):c.615C>G (p.Ile205Met)
|
rs774594843
|
|
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp)
|
rs118204116
|
|
NM_000190.4(HMBS):c.654G>A (p.Gly218=)
|
rs1350355238
|
|
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)
|
rs118204110
|
|
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del)
|
rs1555206128
|
|
NM_000190.4(HMBS):c.723C>G (p.Pro241=)
|
rs202067277
|
|
NM_000190.4(HMBS):c.730_731del (p.Leu244fs)
|
rs1565757839
|
|
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg)
|
rs118204099
|
|
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs)
|
rs1565757857
|
|
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)
|
rs118204111
|
|
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys)
|
rs118204112
|
|
NM_000190.4(HMBS):c.755C>T (p.Ala252Val)
|
rs118204114
|
|
NM_000190.4(HMBS):c.766C>A (p.His256Asn)
|
rs118204115
|
|
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)
|
rs998842815
|
|
NM_000190.4(HMBS):c.771+1G>C
|
rs1565758008
|
|
NM_000190.4(HMBS):c.771G>A (p.Leu257=)
|
rs1555206170
|
|
NM_000190.4(HMBS):c.77G>A (p.Arg26His)
|
rs118204103
|
|
NM_000190.4(HMBS):c.815del (p.Lys272fs)
|
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000190.4(HMBS):c.847_848del (p.Trp283fs)
|
rs1592220835
|
|
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter)
|
rs118204117
|
|
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter)
|
rs1592220915
|
|
NM_000190.4(HMBS):c.88-27_88-12del
|
|
|
NM_000190.4(HMBS):c.891dup (p.Thr298fs)
|
rs1565758795
|
|
NM_000190.4(HMBS):c.900del (p.His300fs)
|
rs1565758825
|
|
NM_000190.4(HMBS):c.912+1G>C
|
|
|
NM_000190.4(HMBS):c.913-1G>A
|
rs1946325053
|
|
NM_000190.4(HMBS):c.962G>A (p.Arg321His)
|
rs150428209
|
|
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter)
|
rs2134885779
|
|
NM_000374.4(UROD):c.-57dup
|
rs777548921
|
|
NM_000374.5(UROD):c.*70G>A
|
rs41269105
|
|
NM_000374.5(UROD):c.-1C>T
|
rs886046364
|
|
NM_000374.5(UROD):c.101G>A (p.Trp34Ter)
|
|
|
NM_000374.5(UROD):c.185C>T (p.Pro62Leu)
|
rs121918060
|
|
NM_000374.5(UROD):c.21-12C>T
|
rs775210041
|
|
NM_000374.5(UROD):c.21-1G>C
|
rs1644814606
|
|
NM_000374.5(UROD):c.240T>G (p.Ala80=)
|
rs1644820833
|
|
NM_000374.5(UROD):c.383C>A (p.Ala128Asp)
|
rs141792226
|
|
NM_000374.5(UROD):c.463G>A (p.Ala155Thr)
|
rs1457521997
|
|
NM_000374.5(UROD):c.499G>A (p.Glu167Lys)
|
rs121918058
|
|
NM_000374.5(UROD):c.578G>C (p.Arg193Pro)
|
rs143823335
|
|
NM_000374.5(UROD):c.583C>T (p.Leu195Phe)
|
rs121918064
|
|
NM_000374.5(UROD):c.583_611del (p.Leu195fs)
|
rs2148982945
|
|
NM_000374.5(UROD):c.693G>A (p.Lys231=)
|
rs143180539
|
|
NM_000374.5(UROD):c.6_15del (p.Glu2fs)
|
rs397514764
|
|
NM_000374.5(UROD):c.70T>G (p.Trp24Gly)
|
rs11541966
|
|
NM_000374.5(UROD):c.725del (p.Lys242fs)
|
|
|
NM_000374.5(UROD):c.758dup (p.Ala254fs)
|
|
|
NM_000374.5(UROD):c.842G>A (p.Gly281Glu)
|
rs121918057
|
|
NM_000374.5(UROD):c.874C>G (p.Arg292Gly)
|
rs121918059
|
|
NM_000374.5(UROD):c.904C>T (p.Gln302Ter)
|
rs1569967143
|
|
NM_000374.5(UROD):c.942G>A (p.Glu314=)
|
rs121918062
|
|
NM_000374.5(UROD):c.995G>A (p.Arg332His)
|
rs121918066
|
|
NM_001122764.3(PPOX):c.-174A>G
|
rs886045451
|
|
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys)
|
|
|
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala)
|
rs28936676
|
|
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=)
|
rs771215757
|
|
NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val)
|
rs886045455
|
|
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs)
|
rs2101902523
|
|
NM_001122764.3(PPOX):c.1291+1G>T
|
rs1571418365
|
|
NM_001122764.3(PPOX):c.1296A>G (p.Ser432=)
|
rs1661206662
|
|
NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr)
|
rs1661220672
|
|
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)
|
rs121918324
|
|
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)
|
rs786204784
|
|
NM_001122764.3(PPOX):c.338+9A>G
|
rs886045453
|
|
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)
|
|
|
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)
|
|
|
NM_001122764.3(PPOX):c.420del (p.Glu141fs)
|
|
|
NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)
|
|
|
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)
|
rs121918325
|
|
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)
|
|
|
NM_001122764.3(PPOX):c.522C>T (p.Asn174=)
|
rs886045454
|
|
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs)
|
rs1571357779
|
|
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe)
|
rs1659928956
|
|
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr)
|
rs1553238545
|
|
NM_001122764.3(PPOX):c.59A>C (p.His20Pro)
|
rs121918326
|
|
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla)
|
rs2101876868
|
|
NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys)
|
|
|
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg)
|
rs121918323
|
|
NM_001122764.3(PPOX):c.69G>T (p.Arg23=)
|
rs886045452
|
|
NM_001122764.3(PPOX):c.745dup (p.Val249fs)
|
rs1571369150
|
|
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)
|
|
|
NM_001122764.3(PPOX):c.869-3_869-2del
|
rs1558033572
|
|
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)
|
rs1555412542
|
|
PPOX, IVS11DS, G-A, -1
|
|
|
Single allele
|
|
|