NM_031935.3(HMCN1):c.11684-13G>A
|
rs10157742
|
0.64202
|
NM_031935.3(HMCN1):c.8885-7A>G
|
rs6425017
|
0.63553
|
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=)
|
rs7522627
|
0.63057
|
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly)
|
rs10798035
|
0.56453
|
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr)
|
rs12129650
|
0.53397
|
NM_031935.3(HMCN1):c.12230-7A>C
|
rs2057388
|
0.52362
|
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg)
|
rs10911825
|
0.39391
|
NM_031935.3(HMCN1):c.4857T>C (p.His1619=)
|
rs6665753
|
0.35166
|
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala)
|
rs7539719
|
0.16805
|
NM_031935.3(HMCN1):c.14266+17G>C
|
rs17531405
|
0.12803
|
NM_031935.3(HMCN1):c.4476-16G>A
|
rs1884662
|
0.12234
|
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val)
|
rs41317507
|
0.08845
|
NM_031935.3(HMCN1):c.900+17A>G
|
rs55943726
|
0.07934
|
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr)
|
rs6693069
|
0.06856
|
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=)
|
rs61745374
|
0.04046
|
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=)
|
rs35576281
|
0.03312
|
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=)
|
rs77026548
|
0.03129
|
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile)
|
rs34460141
|
0.03127
|
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile)
|
rs58293393
|
0.02671
|
NM_031935.3(HMCN1):c.10012+19C>T
|
rs74909345
|
0.02610
|
NM_031935.3(HMCN1):c.11849-8A>C
|
rs78780269
|
0.02456
|
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=)
|
rs74134272
|
0.02399
|
NM_031935.3(HMCN1):c.57C>T (p.Ser19=)
|
rs114170176
|
0.01714
|
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile)
|
rs12067376
|
0.01472
|
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=)
|
rs3737942
|
0.01470
|
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=)
|
rs12087462
|
0.01418
|
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=)
|
rs41317491
|
0.01364
|
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=)
|
rs72720910
|
0.01345
|
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg)
|
rs78541701
|
0.01250
|
NM_031935.3(HMCN1):c.13313-4G>A
|
rs41317497
|
0.01218
|
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=)
|
rs16824983
|
0.01216
|
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe)
|
rs12239296
|
0.01178
|
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr)
|
rs149550536
|
0.01074
|
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)
|
rs79183244
|
0.01053
|
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys)
|
rs76748242
|
0.01024
|
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr)
|
rs41317489
|
0.00992
|
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp)
|
rs74136012
|
0.00984
|
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=)
|
rs57832192
|
0.00905
|
NM_031935.3(HMCN1):c.13040-3C>T
|
rs41317493
|
0.00895
|
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=)
|
rs75687673
|
0.00845
|
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val)
|
rs79178888
|
0.00827
|
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=)
|
rs115874887
|
0.00678
|
NM_031935.3(HMCN1):c.6029-11G>T
|
rs10911802
|
0.00678
|
NM_031935.3(HMCN1):c.6029-4T>C
|
rs10911803
|
0.00676
|
NM_031935.3(HMCN1):c.6701-18A>G
|
rs12075655
|
0.00663
|
NM_031935.3(HMCN1):c.8757T>C (p.His2919=)
|
rs148188970
|
0.00653
|
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser)
|
rs74967568
|
0.00644
|
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met)
|
rs146418772
|
0.00555
|
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser)
|
rs41317471
|
0.00550
|
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln)
|
rs75161007
|
0.00507
|
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr)
|
rs114135070
|
0.00480
|
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His)
|
rs74136049
|
0.00474
|
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=)
|
rs114051074
|
0.00463
|
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)
|
rs138332626
|
0.00444
|
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=)
|
rs144346158
|
0.00443
|
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser)
|
rs116300191
|
0.00436
|
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=)
|
rs143866315
|
0.00404
|
NM_031935.3(HMCN1):c.12630T>C (p.Ala4210=)
|
rs146935141
|
0.00395
|
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met)
|
rs139870667
|
0.00379
|
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile)
|
rs141096306
|
0.00371
|
NM_031935.3(HMCN1):c.10474C>A (p.Gln3492Lys)
|
rs139629275
|
0.00369
|
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=)
|
rs151284138
|
0.00356
|
NM_031935.3(HMCN1):c.14028G>A (p.Ala4676=)
|
rs115782304
|
0.00347
|
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=)
|
rs41317479
|
0.00347
|
NM_031935.3(HMCN1):c.114G>T (p.Gly38=)
|
rs115169621
|
0.00337
|
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=)
|
rs148467349
|
0.00333
|
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn)
|
rs74136061
|
0.00324
|
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val)
|
rs114270813
|
0.00309
|
NM_031935.3(HMCN1):c.12771T>C (p.His4257=)
|
rs115171363
|
0.00295
|
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser)
|
rs60502467
|
0.00295
|
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=)
|
rs151256828
|
0.00293
|
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=)
|
rs144191448
|
0.00272
|
NM_031935.3(HMCN1):c.15440-12C>T
|
rs144568739
|
0.00260
|
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn)
|
rs114669703
|
0.00259
|
NM_031935.3(HMCN1):c.13313-5C>T
|
rs184095385
|
0.00253
|
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp)
|
rs41317483
|
0.00239
|
NM_031935.3(HMCN1):c.4475+9C>A
|
rs111694556
|
0.00229
|
NM_031935.3(HMCN1):c.15256+4A>T
|
rs184102616
|
0.00225
|
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=)
|
rs141581919
|
0.00222
|
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)
|
rs140493567
|
0.00218
|
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=)
|
rs78613732
|
0.00210
|
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg)
|
rs35856562
|
0.00193
|
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=)
|
rs144776594
|
0.00191
|
NM_031935.3(HMCN1):c.1829-19C>T
|
rs199928462
|
0.00169
|
NM_031935.3(HMCN1):c.4631-6_4635del
|
rs568290303
|
0.00160
|
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=)
|
rs143271285
|
0.00156
|
NM_031935.3(HMCN1):c.2559T>C (p.Phe853=)
|
rs150809760
|
0.00154
|
NM_031935.3(HMCN1):c.16121G>A (p.Arg5374Gln)
|
rs147189545
|
0.00152
|
NM_031935.3(HMCN1):c.2372-3C>T
|
rs186546131
|
0.00139
|
NM_031935.3(HMCN1):c.14336G>A (p.Arg4779Gln)
|
rs144926247
|
0.00128
|
NM_031935.3(HMCN1):c.369T>C (p.Ile123=)
|
rs114305799
|
0.00128
|
NM_031935.3(HMCN1):c.6305-16C>T
|
rs183087222
|
0.00116
|
NM_031935.3(HMCN1):c.3434G>A (p.Ser1145Asn)
|
rs142909496
|
0.00115
|
NM_031935.3(HMCN1):c.13462G>A (p.Val4488Met)
|
rs146552651
|
0.00113
|
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys)
|
rs139490011
|
0.00113
|
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=)
|
rs142456335
|
0.00112
|
NM_031935.3(HMCN1):c.6246C>T (p.Thr2082=)
|
rs148052452
|
0.00112
|
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp)
|
rs147995526
|
0.00111
|
NM_031935.3(HMCN1):c.10064T>C (p.Leu3355Ser)
|
rs146143836
|
0.00110
|
NM_031935.3(HMCN1):c.865G>A (p.Val289Met)
|
rs144384070
|
0.00108
|
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=)
|
rs142864872
|
0.00101
|
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=)
|
rs140049629
|
0.00100
|
NM_031935.3(HMCN1):c.2978T>C (p.Ile993Thr)
|
rs140061598
|
0.00098
|
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser)
|
rs144994573
|
0.00096
|
NM_031935.3(HMCN1):c.9686T>C (p.Met3229Thr)
|
rs144560225
|
0.00096
|
NM_031935.3(HMCN1):c.2212+8T>G
|
rs183165464
|
0.00095
|
NM_031935.3(HMCN1):c.8174C>T (p.Ala2725Val)
|
rs138928800
|
0.00095
|
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp)
|
rs146671871
|
0.00093
|
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu)
|
rs146532107
|
0.00091
|
NM_031935.3(HMCN1):c.5851+10del
|
rs375820274
|
0.00091
|
NM_031935.3(HMCN1):c.11763G>A (p.Ser3921=)
|
rs142946901
|
0.00090
|
NM_031935.3(HMCN1):c.3549A>T (p.Gln1183His)
|
rs556364086
|
0.00090
|
NM_031935.3(HMCN1):c.6150T>C (p.Ser2050=)
|
rs115925143
|
0.00087
|
NM_031935.3(HMCN1):c.9721A>G (p.Ile3241Val)
|
rs151211018
|
0.00086
|
NM_031935.3(HMCN1):c.9602G>A (p.Arg3201His)
|
rs149077801
|
0.00084
|
NM_031935.3(HMCN1):c.11206G>A (p.Ala3736Thr)
|
rs138190200
|
0.00081
|
NM_031935.3(HMCN1):c.13231-4A>G
|
rs191690433
|
0.00081
|
NM_031935.3(HMCN1):c.15440-13C>T
|
rs12034495
|
0.00081
|
NM_031935.3(HMCN1):c.15944-18A>G
|
rs139178443
|
0.00077
|
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn)
|
rs61732179
|
0.00076
|
NM_031935.3(HMCN1):c.9808G>C (p.Ala3270Pro)
|
rs138290901
|
0.00076
|
NM_031935.3(HMCN1):c.13753+12T>C
|
rs202048492
|
0.00072
|
NM_031935.3(HMCN1):c.9392G>A (p.Arg3131Lys)
|
rs113241441
|
0.00072
|
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)
|
rs121434382
|
0.00070
|
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=)
|
rs146867591
|
0.00070
|
NM_031935.3(HMCN1):c.15527G>A (p.Arg5176His)
|
rs150494959
|
0.00068
|
NM_031935.3(HMCN1):c.2778G>A (p.Lys926=)
|
rs149049922
|
0.00068
|
NM_031935.3(HMCN1):c.10574-18T>C
|
rs73040692
|
0.00066
|
NM_031935.3(HMCN1):c.10532A>G (p.Glu3511Gly)
|
rs143629026
|
0.00063
|
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala)
|
rs201865736
|
0.00063
|
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val)
|
rs150618921
|
0.00061
|
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His)
|
rs150188026
|
0.00061
|
NM_031935.3(HMCN1):c.13313-20C>T
|
rs139437150
|
0.00060
|
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His)
|
rs147769095
|
0.00060
|
NM_031935.3(HMCN1):c.5301-17T>C
|
rs745390333
|
0.00060
|
NM_031935.3(HMCN1):c.13327A>T (p.Thr4443Ser)
|
rs138178673
|
0.00059
|
NM_031935.3(HMCN1):c.13089T>C (p.Leu4363=)
|
rs41317495
|
0.00058
|
NM_031935.3(HMCN1):c.1344A>G (p.Gln448=)
|
rs145612988
|
0.00058
|
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val)
|
rs144649977
|
0.00057
|
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg)
|
rs150734874
|
0.00056
|
NM_031935.3(HMCN1):c.3669C>T (p.Asp1223=)
|
rs144051894
|
0.00055
|
NM_031935.3(HMCN1):c.3874+5G>A
|
rs201803260
|
0.00054
|
NM_031935.3(HMCN1):c.4631-16C>A
|
rs143354708
|
0.00054
|
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val)
|
rs199613884
|
0.00050
|
NM_031935.3(HMCN1):c.437G>A (p.Arg146Gln)
|
rs146401446
|
0.00049
|
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr)
|
rs143665535
|
0.00048
|
NM_031935.3(HMCN1):c.10903C>T (p.Arg3635Trp)
|
rs34928488
|
0.00047
|
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=)
|
rs146430539
|
0.00047
|
NM_031935.3(HMCN1):c.11042A>G (p.Asn3681Ser)
|
rs145693979
|
0.00046
|
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln)
|
rs145398864
|
0.00046
|
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys)
|
rs34692227
|
0.00046
|
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe)
|
rs140559544
|
0.00046
|
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe)
|
rs137903471
|
0.00045
|
NM_031935.3(HMCN1):c.3626G>T (p.Ser1209Ile)
|
rs573371474
|
0.00045
|
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr)
|
rs150226500
|
0.00044
|
NM_031935.3(HMCN1):c.2765G>A (p.Arg922His)
|
rs140928144
|
0.00043
|
NM_031935.3(HMCN1):c.7145C>T (p.Ala2382Val)
|
rs140744695
|
0.00042
|
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr)
|
rs150811327
|
0.00041
|
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser)
|
rs141099682
|
0.00040
|
NM_031935.3(HMCN1):c.14438-20C>G
|
rs201728180
|
0.00040
|
NM_031935.3(HMCN1):c.11404+11G>A
|
rs187354891
|
0.00039
|
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys)
|
rs137942830
|
0.00038
|
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val)
|
rs145889775
|
0.00038
|
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val)
|
rs138409434
|
0.00037
|
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=)
|
rs140981285
|
0.00036
|
NM_031935.3(HMCN1):c.14322C>T (p.Asn4774=)
|
rs139398979
|
0.00036
|
NM_031935.3(HMCN1):c.2157C>T (p.Thr719=)
|
rs141371119
|
0.00036
|
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro)
|
rs148265876
|
0.00036
|
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly)
|
rs182468717
|
0.00035
|
NM_031935.3(HMCN1):c.9003T>C (p.Asn3001=)
|
rs143086645
|
0.00035
|
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=)
|
rs138776748
|
0.00033
|
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln)
|
rs201563661
|
0.00033
|
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met)
|
rs201628935
|
0.00033
|
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val)
|
rs145595000
|
0.00031
|
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=)
|
rs149752078
|
0.00031
|
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=)
|
rs140778669
|
0.00030
|
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln)
|
rs140296295
|
0.00030
|
NM_031935.3(HMCN1):c.10989+5A>G
|
rs200045422
|
0.00029
|
NM_031935.3(HMCN1):c.11561+6G>A
|
rs370284965
|
0.00029
|
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg)
|
rs147296385
|
0.00029
|
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile)
|
rs145758069
|
0.00029
|
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val)
|
rs41317503
|
0.00028
|
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met)
|
rs147851396
|
0.00026
|
NM_031935.3(HMCN1):c.3879C>T (p.Thr1293=)
|
rs571822082
|
0.00025
|
NM_031935.3(HMCN1):c.4564C>T (p.Arg1522Cys)
|
rs143641249
|
0.00025
|
NM_031935.3(HMCN1):c.1021+8T>C
|
rs199547255
|
0.00024
|
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile)
|
rs199585281
|
0.00024
|
NM_031935.3(HMCN1):c.12377G>A (p.Arg4126His)
|
rs141573564
|
0.00024
|
NM_031935.3(HMCN1):c.1479C>T (p.Asp493=)
|
rs189175231
|
0.00024
|
NM_031935.3(HMCN1):c.5651A>T (p.Gln1884Leu)
|
rs142871818
|
0.00024
|
NM_031935.3(HMCN1):c.26C>T (p.Thr9Ile)
|
rs150931652
|
0.00023
|
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met)
|
rs201379680
|
0.00023
|
NM_031935.3(HMCN1):c.10633C>T (p.Pro3545Ser)
|
rs142038459
|
0.00022
|
NM_031935.3(HMCN1):c.1224T>C (p.Tyr408=)
|
rs373089927
|
0.00022
|
NM_031935.3(HMCN1):c.12510G>C (p.Arg4170Ser)
|
rs147073283
|
0.00021
|
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val)
|
rs141213545
|
0.00021
|
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His)
|
rs148097981
|
0.00021
|
NM_031935.3(HMCN1):c.15419C>T (p.Ala5140Val)
|
rs143555344
|
0.00021
|
NM_031935.3(HMCN1):c.1431-17C>T
|
rs370334571
|
0.00020
|
NM_031935.3(HMCN1):c.14438-5C>A
|
rs140571899
|
0.00020
|
NM_031935.3(HMCN1):c.2916T>G (p.Thr972=)
|
rs200384314
|
0.00020
|
NM_031935.3(HMCN1):c.36G>C (p.Leu12=)
|
rs76631922
|
0.00020
|
NM_031935.3(HMCN1):c.15440-9C>T
|
rs374670687
|
0.00019
|
NM_031935.3(HMCN1):c.4993G>C (p.Ala1665Pro)
|
rs148365191
|
0.00019
|
NM_031935.3(HMCN1):c.6852G>A (p.Leu2284=)
|
rs141701245
|
0.00019
|
NM_031935.3(HMCN1):c.861G>A (p.Val287=)
|
rs138455877
|
0.00019
|
NM_031935.3(HMCN1):c.9577+20T>G
|
rs185231089
|
0.00019
|
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala)
|
rs138440972
|
0.00018
|
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser)
|
rs376910631
|
0.00017
|
NM_031935.3(HMCN1):c.6315T>C (p.Asn2105=)
|
rs373512659
|
0.00017
|
NM_031935.3(HMCN1):c.8291-8C>T
|
rs372101261
|
0.00017
|
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser)
|
rs199920138
|
0.00017
|
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys)
|
rs149594098
|
0.00016
|
NM_031935.3(HMCN1):c.12500-17T>G
|
rs370607941
|
0.00016
|
NM_031935.3(HMCN1):c.1546G>A (p.Val516Ile)
|
rs199966462
|
0.00016
|
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=)
|
rs145772673
|
0.00016
|
NM_031935.3(HMCN1):c.1886T>C (p.Val629Ala)
|
rs769474927
|
0.00016
|
NM_031935.3(HMCN1):c.3030G>A (p.Pro1010=)
|
rs377478076
|
0.00016
|
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)
|
rs139899015
|
0.00016
|
NM_031935.3(HMCN1):c.794-4_794-2dup
|
rs34771656
|
0.00016
|
NM_031935.3(HMCN1):c.9888-5C>T
|
rs142970299
|
0.00016
|
NM_031935.3(HMCN1):c.11916G>A (p.Ala3972=)
|
rs374616091
|
0.00015
|
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile)
|
rs200642597
|
0.00015
|
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val)
|
rs781513060
|
0.00015
|
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met)
|
rs140990615
|
0.00015
|
NM_031935.3(HMCN1):c.7185T>C (p.Asn2395=)
|
rs781180478
|
0.00015
|
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys)
|
rs199574143
|
0.00014
|
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu)
|
rs199984579
|
0.00014
|
NM_031935.3(HMCN1):c.12229+18C>G
|
rs539775023
|
0.00014
|
NM_031935.3(HMCN1):c.14555C>G (p.Pro4852Arg)
|
rs374597394
|
0.00014
|
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His)
|
rs41317505
|
0.00014
|
NM_031935.3(HMCN1):c.1545C>T (p.Asp515=)
|
rs750371257
|
0.00014
|
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe)
|
rs188107197
|
0.00014
|
NM_031935.3(HMCN1):c.8348A>G (p.Asn2783Ser)
|
rs139211435
|
0.00014
|
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu)
|
rs76432158
|
0.00014
|
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=)
|
rs147891898
|
0.00013
|
NM_031935.3(HMCN1):c.3765G>A (p.Thr1255=)
|
rs112519612
|
0.00013
|
NM_031935.3(HMCN1):c.12230-3T>C
|
rs200662005
|
0.00012
|
NM_031935.3(HMCN1):c.13833G>A (p.Arg4611=)
|
rs186418526
|
0.00012
|
NM_031935.3(HMCN1):c.1398T>C (p.Asn466=)
|
rs149417407
|
0.00012
|
NM_031935.3(HMCN1):c.11849-18del
|
rs760277967
|
0.00011
|
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr)
|
rs145955451
|
0.00011
|
NM_031935.3(HMCN1):c.15439+14dup
|
rs759693498
|
0.00011
|
NM_031935.3(HMCN1):c.16657C>T (p.Arg5553Trp)
|
rs200641304
|
0.00011
|
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser)
|
rs757430423
|
0.00011
|
NM_031935.3(HMCN1):c.5559T>C (p.Ile1853=)
|
rs373478640
|
0.00011
|
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His)
|
rs147974906
|
0.00011
|
NM_031935.3(HMCN1):c.6305-14C>T
|
rs369988539
|
0.00011
|
NM_031935.3(HMCN1):c.6480+17A>G
|
rs367673758
|
0.00011
|
NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln)
|
rs137853916
|
0.00011
|
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=)
|
rs368757349
|
0.00011
|
NM_031935.3(HMCN1):c.7859G>A (p.Arg2620Gln)
|
rs150883776
|
0.00011
|
NM_031935.3(HMCN1):c.8140-11T>C
|
rs371411934
|
0.00011
|
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln)
|
rs202206115
|
0.00011
|
NM_031935.3(HMCN1):c.11808A>T (p.Arg3936Ser)
|
rs144330600
|
0.00010
|
NM_031935.3(HMCN1):c.14140G>A (p.Val4714Met)
|
rs770936849
|
0.00010
|
NM_031935.3(HMCN1):c.15789C>G (p.Thr5263=)
|
rs757674939
|
0.00010
|
NM_031935.3(HMCN1):c.15967C>A (p.Pro5323Thr)
|
rs540719952
|
0.00010
|
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu)
|
rs372803002
|
0.00010
|
NM_031935.3(HMCN1):c.2343A>G (p.Ala781=)
|
rs754555903
|
0.00010
|
NM_031935.3(HMCN1):c.3102T>C (p.Gly1034=)
|
rs752004477
|
0.00010
|
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=)
|
rs181852740
|
0.00010
|
NM_031935.3(HMCN1):c.7492A>T (p.Thr2498Ser)
|
rs376556463
|
0.00010
|
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=)
|
rs41317461
|
0.00009
|
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser)
|
rs77460954
|
0.00009
|
NM_031935.3(HMCN1):c.14926C>T (p.Arg4976Trp)
|
rs760875305
|
0.00009
|
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser)
|
rs143393655
|
0.00009
|
NM_031935.3(HMCN1):c.1939G>A (p.Val647Ile)
|
rs146964438
|
0.00009
|
NM_031935.3(HMCN1):c.3354G>T (p.Gln1118His)
|
rs141081235
|
0.00009
|
NM_031935.3(HMCN1):c.4546C>T (p.Arg1516Trp)
|
rs764000303
|
0.00009
|
NM_031935.3(HMCN1):c.4752C>T (p.Asp1584=)
|
rs144362862
|
0.00009
|
NM_031935.3(HMCN1):c.4850C>T (p.Thr1617Met)
|
rs757566490
|
0.00009
|
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr)
|
rs199945360
|
0.00009
|
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln)
|
rs116409560
|
0.00009
|
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile)
|
rs376810057
|
0.00009
|
NM_031935.3(HMCN1):c.7513+4T>C
|
rs369311506
|
0.00009
|
NM_031935.3(HMCN1):c.900+4C>T
|
rs764319560
|
0.00009
|
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val)
|
rs752692827
|
0.00008
|
NM_031935.3(HMCN1):c.13039+13G>A
|
rs553369532
|
0.00008
|
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys)
|
rs200897962
|
0.00008
|
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr)
|
rs754660196
|
0.00008
|
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile)
|
rs201176937
|
0.00008
|
NM_031935.3(HMCN1):c.5974G>A (p.Val1992Met)
|
rs558576428
|
0.00008
|
NM_031935.3(HMCN1):c.7153A>G (p.Ser2385Gly)
|
rs138727762
|
0.00008
|
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu)
|
rs146636123
|
0.00007
|
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr)
|
rs184081240
|
0.00007
|
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp)
|
rs371095992
|
0.00007
|
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly)
|
rs776783939
|
0.00007
|
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile)
|
rs769706639
|
0.00007
|
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His)
|
rs370518238
|
0.00007
|
NM_031935.3(HMCN1):c.3505+20C>T
|
rs374193729
|
0.00007
|
NM_031935.3(HMCN1):c.4178T>C (p.Met1393Thr)
|
rs779269443
|
0.00007
|
NM_031935.3(HMCN1):c.5572A>T (p.Ile1858Phe)
|
rs200642806
|
0.00007
|
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys)
|
rs41317477
|
0.00007
|
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala)
|
rs201878929
|
0.00007
|
NM_031935.3(HMCN1):c.12662A>G (p.Tyr4221Cys)
|
rs377433759
|
0.00006
|
NM_031935.3(HMCN1):c.13230+9C>T
|
rs573598298
|
0.00006
|
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr)
|
rs747405345
|
0.00006
|
NM_031935.3(HMCN1):c.13582+11T>C
|
rs764698262
|
0.00006
|
NM_031935.3(HMCN1):c.13909A>G (p.Ile4637Val)
|
rs752516803
|
0.00006
|
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=)
|
rs144621380
|
0.00006
|
NM_031935.3(HMCN1):c.15077G>A (p.Arg5026Gln)
|
rs146392053
|
0.00006
|
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn)
|
rs200601125
|
0.00006
|
NM_031935.3(HMCN1):c.3177C>T (p.Tyr1059=)
|
rs757058220
|
0.00006
|
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val)
|
rs371177035
|
0.00006
|
NM_031935.3(HMCN1):c.4405C>T (p.Arg1469Cys)
|
rs140363573
|
0.00006
|
NM_031935.3(HMCN1):c.4940C>T (p.Thr1647Met)
|
rs775412545
|
0.00006
|
NM_031935.3(HMCN1):c.6308C>T (p.Pro2103Leu)
|
rs768441829
|
0.00006
|
NM_031935.3(HMCN1):c.6795A>G (p.Ala2265=)
|
rs576041088
|
0.00006
|
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=)
|
rs758248236
|
0.00006
|
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp)
|
rs376132541
|
0.00006
|
NM_031935.3(HMCN1):c.7598G>A (p.Arg2533His)
|
rs199987140
|
0.00006
|
NM_031935.3(HMCN1):c.7681A>C (p.Arg2561=)
|
rs780755707
|
0.00006
|
NM_031935.3(HMCN1):c.10294+7G>A
|
rs199898360
|
0.00005
|
NM_031935.3(HMCN1):c.10503G>A (p.Ser3501=)
|
rs145257193
|
0.00005
|
NM_031935.3(HMCN1):c.11205C>T (p.Ile3735=)
|
rs557210222
|
0.00005
|
NM_031935.3(HMCN1):c.12220A>G (p.Asn4074Asp)
|
rs200395622
|
0.00005
|
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=)
|
rs150757082
|
0.00005
|
NM_031935.3(HMCN1):c.12804C>T (p.Asp4268=)
|
rs147822137
|
0.00005
|
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met)
|
rs146247104
|
0.00005
|
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg)
|
rs770537331
|
0.00005
|
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met)
|
rs553018813
|
0.00005
|
NM_031935.3(HMCN1):c.16719T>C (p.Asp5573=)
|
rs779915950
|
0.00005
|
NM_031935.3(HMCN1):c.16894G>A (p.Ala5632Thr)
|
rs372434876
|
0.00005
|
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys)
|
rs370251638
|
0.00005
|
NM_031935.3(HMCN1):c.4348+11C>T
|
rs755881880
|
0.00005
|
NM_031935.3(HMCN1):c.4360A>G (p.Ile1454Val)
|
rs142035526
|
0.00005
|
NM_031935.3(HMCN1):c.4468G>A (p.Asp1490Asn)
|
rs781177769
|
0.00005
|
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser)
|
rs772105060
|
0.00005
|
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln)
|
rs777060812
|
0.00005
|
NM_031935.3(HMCN1):c.6641T>C (p.Ile2214Thr)
|
rs907235295
|
0.00005
|
NM_031935.3(HMCN1):c.6699A>G (p.Lys2233=)
|
rs200609012
|
0.00005
|
NM_031935.3(HMCN1):c.6744A>T (p.Leu2248Phe)
|
rs765779034
|
0.00005
|
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile)
|
rs147722917
|
0.00005
|
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=)
|
rs183725854
|
0.00005
|
NM_031935.3(HMCN1):c.10033A>G (p.Asn3345Asp)
|
rs201026760
|
0.00004
|
NM_031935.3(HMCN1):c.10280A>G (p.Asn3427Ser)
|
rs903500513
|
0.00004
|
NM_031935.3(HMCN1):c.10380T>G (p.Asp3460Glu)
|
rs141065715
|
0.00004
|
NM_031935.3(HMCN1):c.12019T>C (p.Leu4007=)
|
rs1393069190
|
0.00004
|
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser)
|
rs367750334
|
0.00004
|
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln)
|
rs565996021
|
0.00004
|
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val)
|
rs146177894
|
0.00004
|
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu)
|
rs202140956
|
0.00004
|
NM_031935.3(HMCN1):c.13770G>A (p.Ser4590=)
|
rs772713981
|
0.00004
|
NM_031935.3(HMCN1):c.13992G>C (p.Gln4664His)
|
rs551261120
|
0.00004
|
NM_031935.3(HMCN1):c.14185G>A (p.Asp4729Asn)
|
rs751950564
|
0.00004
|
NM_031935.3(HMCN1):c.14335C>T (p.Arg4779Trp)
|
rs144825762
|
0.00004
|
NM_031935.3(HMCN1):c.14491G>A (p.Gly4831Arg)
|
rs774478146
|
0.00004
|
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=)
|
rs764895427
|
0.00004
|
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val)
|
rs754953588
|
0.00004
|
NM_031935.3(HMCN1):c.1525C>T (p.Arg509Trp)
|
rs531770127
|
0.00004
|
NM_031935.3(HMCN1):c.15689-7T>C
|
rs370901552
|
0.00004
|
NM_031935.3(HMCN1):c.16050C>T (p.Asp5350=)
|
rs370263142
|
0.00004
|
NM_031935.3(HMCN1):c.16806C>T (p.Thr5602=)
|
rs145370988
|
0.00004
|
NM_031935.3(HMCN1):c.1755T>A (p.Asp585Glu)
|
rs371997839
|
0.00004
|
NM_031935.3(HMCN1):c.1791T>A (p.Gly597=)
|
rs1435651902
|
0.00004
|
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro)
|
rs779907065
|
0.00004
|
NM_031935.3(HMCN1):c.2341G>A (p.Ala781Thr)
|
rs373420508
|
0.00004
|
NM_031935.3(HMCN1):c.3048+12A>G
|
rs759007264
|
0.00004
|
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe)
|
rs369263478
|
0.00004
|
NM_031935.3(HMCN1):c.3366G>A (p.Pro1122=)
|
rs199798509
|
0.00004
|
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys)
|
rs575710648
|
0.00004
|
NM_031935.3(HMCN1):c.4156G>A (p.Gly1386Ser)
|
rs757548486
|
0.00004
|
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro)
|
rs201953947
|
0.00004
|
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn)
|
rs140480677
|
0.00004
|
NM_031935.3(HMCN1):c.4851G>A (p.Thr1617=)
|
rs781719479
|
0.00004
|
NM_031935.3(HMCN1):c.498+15A>C
|
rs565661847
|
0.00004
|
NM_031935.3(HMCN1):c.5120G>A (p.Arg1707Gln)
|
rs367984117
|
0.00004
|
NM_031935.3(HMCN1):c.5749+6G>A
|
rs575776317
|
0.00004
|
NM_031935.3(HMCN1):c.6181-3T>C
|
rs971328726
|
0.00004
|
NM_031935.3(HMCN1):c.6197G>A (p.Arg2066Gln)
|
rs555321850
|
0.00004
|
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=)
|
rs747509922
|
0.00004
|
NM_031935.3(HMCN1):c.6701-4G>C
|
rs780518184
|
0.00004
|
NM_031935.3(HMCN1):c.6933C>T (p.Ser2311=)
|
rs752504748
|
0.00004
|
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr)
|
rs536019281
|
0.00004
|
NM_031935.3(HMCN1):c.7676A>G (p.Lys2559Arg)
|
rs1009060988
|
0.00004
|
NM_031935.3(HMCN1):c.769A>G (p.Met257Val)
|
rs140971270
|
0.00004
|
NM_031935.3(HMCN1):c.8341G>A (p.Gly2781Ser)
|
rs374112138
|
0.00004
|
NM_031935.3(HMCN1):c.8485+14C>T
|
rs201345841
|
0.00004
|
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter)
|
rs142475663
|
0.00004
|
NM_031935.3(HMCN1):c.8814C>T (p.Ile2938=)
|
rs772602156
|
0.00004
|
NM_031935.3(HMCN1):c.9046+13T>G
|
rs371854479
|
0.00004
|
NM_031935.3(HMCN1):c.9249G>A (p.Ser3083=)
|
rs756117010
|
0.00004
|
NM_031935.3(HMCN1):c.9446-10T>A
|
rs753374697
|
0.00004
|
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp)
|
rs1404028877
|
0.00004
|
NM_031935.3(HMCN1):c.9841C>T (p.Leu3281Phe)
|
rs780010955
|
0.00004
|
NM_031935.3(HMCN1):c.9887+4T>G
|
rs746668370
|
0.00004
|
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met)
|
rs367681878
|
0.00004
|
NM_031935.3(HMCN1):c.9973G>A (p.Ala3325Thr)
|
rs543118353
|
0.00004
|
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu)
|
rs752255369
|
0.00003
|
NM_031935.3(HMCN1):c.10941A>G (p.Ala3647=)
|
rs754756539
|
0.00003
|
NM_031935.3(HMCN1):c.10990-4C>T
|
rs758073795
|
0.00003
|
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile)
|
rs773110395
|
0.00003
|
NM_031935.3(HMCN1):c.11277A>G (p.Arg3759=)
|
rs369293880
|
0.00003
|
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu)
|
rs766042341
|
0.00003
|
NM_031935.3(HMCN1):c.12918T>C (p.Ser4306=)
|
rs767191974
|
0.00003
|
NM_031935.3(HMCN1):c.13190G>A (p.Arg4397Gln)
|
rs368815116
|
0.00003
|
NM_031935.3(HMCN1):c.13214C>T (p.Ala4405Val)
|
rs1306049718
|
0.00003
|
NM_031935.3(HMCN1):c.1355C>T (p.Ser452Phe)
|
rs373157669
|
0.00003
|
NM_031935.3(HMCN1):c.14376G>A (p.Gly4792=)
|
rs907872312
|
0.00003
|
NM_031935.3(HMCN1):c.14547T>C (p.Gly4849=)
|
rs768675698
|
0.00003
|
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg)
|
rs373876634
|
0.00003
|
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His)
|
rs766387783
|
0.00003
|
NM_031935.3(HMCN1):c.16395C>T (p.His5465=)
|
rs771046913
|
0.00003
|
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe)
|
rs754608294
|
0.00003
|
NM_031935.3(HMCN1):c.2304C>T (p.Gly768=)
|
rs373154967
|
0.00003
|
NM_031935.3(HMCN1):c.2819G>A (p.Arg940His)
|
rs112809015
|
0.00003
|
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu)
|
rs373402377
|
0.00003
|
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=)
|
rs566865273
|
0.00003
|
NM_031935.3(HMCN1):c.3874+18A>G
|
rs760678057
|
0.00003
|
NM_031935.3(HMCN1):c.4910-14A>G
|
rs767012387
|
0.00003
|
NM_031935.3(HMCN1):c.5136C>T (p.Cys1712=)
|
rs747541664
|
0.00003
|
NM_031935.3(HMCN1):c.5325T>A (p.Ile1775=)
|
rs571034789
|
0.00003
|
NM_031935.3(HMCN1):c.5530G>A (p.Val1844Ile)
|
rs748993057
|
0.00003
|
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser)
|
rs199971679
|
0.00003
|
NM_031935.3(HMCN1):c.5852-12T>G
|
rs373816059
|
0.00003
|
NM_031935.3(HMCN1):c.6358G>A (p.Ala2120Thr)
|
rs149209524
|
0.00003
|
NM_031935.3(HMCN1):c.6578-11T>C
|
rs751212954
|
0.00003
|
NM_031935.3(HMCN1):c.6676C>A (p.Pro2226Thr)
|
rs201966093
|
0.00003
|
NM_031935.3(HMCN1):c.6863-6C>T
|
rs202080081
|
0.00003
|
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His)
|
rs559595305
|
0.00003
|
NM_031935.3(HMCN1):c.8139+7C>A
|
rs201246528
|
0.00003
|
NM_031935.3(HMCN1):c.10716G>A (p.Thr3572=)
|
rs751195555
|
0.00002
|
NM_031935.3(HMCN1):c.11280T>C (p.Tyr3760=)
|
rs975428696
|
0.00002
|
NM_031935.3(HMCN1):c.11378G>A (p.Arg3793His)
|
rs768205453
|
0.00002
|
NM_031935.3(HMCN1):c.11405-3T>C
|
rs771393516
|
0.00002
|
NM_031935.3(HMCN1):c.11849-18A>T
|
rs372836826
|
0.00002
|
NM_031935.3(HMCN1):c.12230-8T>C
|
rs376872884
|
0.00002
|
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala)
|
rs537694143
|
0.00002
|
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp)
|
rs773577908
|
0.00002
|
NM_031935.3(HMCN1):c.13339G>C (p.Val4447Leu)
|
rs748529848
|
0.00002
|
NM_031935.3(HMCN1):c.14315C>T (p.Thr4772Met)
|
rs762054878
|
0.00002
|
NM_031935.3(HMCN1):c.14465G>A (p.Ser4822Asn)
|
rs770204982
|
0.00002
|
NM_031935.3(HMCN1):c.15167T>C (p.Val5056Ala)
|
rs199927269
|
0.00002
|
NM_031935.3(HMCN1):c.15273G>C (p.Gln5091His)
|
rs369122627
|
0.00002
|
NM_031935.3(HMCN1):c.15320-7C>T
|
rs745639179
|
0.00002
|
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln)
|
rs370909774
|
0.00002
|
NM_031935.3(HMCN1):c.15505G>C (p.Gly5169Arg)
|
rs750614060
|
0.00002
|
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=)
|
rs373603132
|
0.00002
|
NM_031935.3(HMCN1):c.15575-1G>A
|
rs200351804
|
0.00002
|
NM_031935.3(HMCN1):c.1557C>A (p.Pro519=)
|
rs767276797
|
0.00002
|
NM_031935.3(HMCN1):c.15743C>T (p.Thr5248Ile)
|
rs199563247
|
0.00002
|
NM_031935.3(HMCN1):c.15914G>A (p.Arg5305Gln)
|
rs566532561
|
0.00002
|
NM_031935.3(HMCN1):c.16295-9C>T
|
rs760760319
|
0.00002
|
NM_031935.3(HMCN1):c.1837A>G (p.Lys613Glu)
|
rs376173618
|
0.00002
|
NM_031935.3(HMCN1):c.2162T>C (p.Met721Thr)
|
rs144270518
|
0.00002
|
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe)
|
rs367914815
|
0.00002
|
NM_031935.3(HMCN1):c.2715G>A (p.Gln905=)
|
rs746210473
|
0.00002
|
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln)
|
rs144772706
|
0.00002
|
NM_031935.3(HMCN1):c.3441G>T (p.Met1147Ile)
|
rs201732691
|
0.00002
|
NM_031935.3(HMCN1):c.3731C>T (p.Thr1244Ile)
|
rs764649227
|
0.00002
|
NM_031935.3(HMCN1):c.3779-8C>T
|
rs750474171
|
0.00002
|
NM_031935.3(HMCN1):c.3811T>C (p.Tyr1271His)
|
rs188408556
|
0.00002
|
NM_031935.3(HMCN1):c.3992A>G (p.Tyr1331Cys)
|
rs376178458
|
0.00002
|
NM_031935.3(HMCN1):c.4278A>G (p.Ala1426=)
|
rs750045357
|
0.00002
|
NM_031935.3(HMCN1):c.441C>T (p.Ser147=)
|
rs759803254
|
0.00002
|
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=)
|
rs146365142
|
0.00002
|
NM_031935.3(HMCN1):c.5741A>G (p.His1914Arg)
|
rs563890233
|
0.00002
|
NM_031935.3(HMCN1):c.5750-4G>C
|
rs530307991
|
0.00002
|
NM_031935.3(HMCN1):c.5891C>T (p.Ser1964Phe)
|
rs768770768
|
0.00002
|
NM_031935.3(HMCN1):c.6480+4A>T
|
rs376146048
|
0.00002
|
NM_031935.3(HMCN1):c.6753C>T (p.Gly2251=)
|
rs751790241
|
0.00002
|
NM_031935.3(HMCN1):c.6816G>A (p.Ser2272=)
|
rs760273562
|
0.00002
|
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys)
|
rs779454634
|
0.00002
|
NM_031935.3(HMCN1):c.7313-5T>G
|
rs762447090
|
0.00002
|
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val)
|
rs200327975
|
0.00002
|
NM_031935.3(HMCN1):c.824A>C (p.His275Pro)
|
rs368798833
|
0.00002
|
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=)
|
rs776416150
|
0.00002
|
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu)
|
rs749154171
|
0.00002
|
NM_031935.3(HMCN1):c.8650G>A (p.Val2884Met)
|
rs919412657
|
0.00002
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
NM_031935.3(HMCN1):c.8777G>A (p.Arg2926Gln)
|
rs377760099
|
0.00002
|
NM_031935.3(HMCN1):c.8813T>C (p.Ile2938Thr)
|
rs748510163
|
0.00002
|
NM_031935.3(HMCN1):c.8965T>C (p.Ser2989Pro)
|
rs764586326
|
0.00002
|
NM_031935.3(HMCN1):c.9047-12A>G
|
rs767424930
|
0.00002
|
NM_031935.3(HMCN1):c.9138A>G (p.Lys3046=)
|
rs779996381
|
0.00002
|
NM_031935.3(HMCN1):c.10073C>T (p.Thr3358Ile)
|
rs201310252
|
0.00001
|
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr)
|
rs746480984
|
0.00001
|
NM_031935.3(HMCN1):c.10997C>G (p.Pro3666Arg)
|
rs757296431
|
0.00001
|
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln)
|
rs745313929
|
0.00001
|
NM_031935.3(HMCN1):c.1115T>C (p.Leu372Pro)
|
rs1667101291
|
0.00001
|
NM_031935.3(HMCN1):c.11276+8T>C
|
rs572790212
|
0.00001
|
NM_031935.3(HMCN1):c.11317G>A (p.Ala3773Thr)
|
rs1268584037
|
0.00001
|
NM_031935.3(HMCN1):c.11377C>T (p.Arg3793Cys)
|
rs147547755
|
0.00001
|
NM_031935.3(HMCN1):c.11382G>A (p.Arg3794=)
|
rs530972182
|
0.00001
|
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg)
|
rs777770411
|
0.00001
|
NM_031935.3(HMCN1):c.11689C>T (p.Pro3897Ser)
|
rs979127566
|
0.00001
|
NM_031935.3(HMCN1):c.11766A>G (p.Gly3922=)
|
rs746063194
|
0.00001
|
NM_031935.3(HMCN1):c.11933G>A (p.Arg3978Gln)
|
rs756043609
|
0.00001
|
NM_031935.3(HMCN1):c.11935C>T (p.His3979Tyr)
|
rs973079674
|
0.00001
|
NM_031935.3(HMCN1):c.1207C>G (p.Leu403Val)
|
rs781359511
|
0.00001
|
NM_031935.3(HMCN1):c.12120T>C (p.Ser4040=)
|
rs894169400
|
0.00001
|
NM_031935.3(HMCN1):c.12148C>T (p.Arg4050Ter)
|
rs767655388
|
0.00001
|
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=)
|
rs886045682
|
0.00001
|
NM_031935.3(HMCN1):c.12290C>T (p.Thr4097Met)
|
rs370916387
|
0.00001
|
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=)
|
rs1160639880
|
0.00001
|
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys)
|
rs1400175925
|
0.00001
|
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=)
|
rs565658664
|
0.00001
|
NM_031935.3(HMCN1):c.12696G>A (p.Glu4232=)
|
rs747361477
|
0.00001
|
NM_031935.3(HMCN1):c.1285+7C>T
|
rs753115471
|
0.00001
|
NM_031935.3(HMCN1):c.1286-10T>C
|
rs778524547
|
0.00001
|
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile)
|
rs200984902
|
0.00001
|
NM_031935.3(HMCN1):c.13001T>C (p.Val4334Ala)
|
rs750135200
|
0.00001
|
NM_031935.3(HMCN1):c.13039+12C>T
|
rs778133023
|
0.00001
|
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met)
|
rs563362752
|
0.00001
|
NM_031935.3(HMCN1):c.13240G>A (p.Ala4414Thr)
|
rs969015389
|
0.00001
|
NM_031935.3(HMCN1):c.13281G>C (p.Val4427=)
|
rs377383392
|
0.00001
|
NM_031935.3(HMCN1):c.13333G>A (p.Glu4445Lys)
|
rs1192219867
|
0.00001
|
NM_031935.3(HMCN1):c.13348G>A (p.Val4450Ile)
|
rs1649627673
|
0.00001
|
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=)
|
rs763275429
|
0.00001
|
NM_031935.3(HMCN1):c.13554C>T (p.Val4518=)
|
rs1480140095
|
0.00001
|
NM_031935.3(HMCN1):c.13660C>T (p.Arg4554Cys)
|
rs753805678
|
0.00001
|
NM_031935.3(HMCN1):c.13874G>A (p.Cys4625Tyr)
|
rs1649718920
|
0.00001
|
NM_031935.3(HMCN1):c.13925-20G>C
|
rs756768991
|
0.00001
|
NM_031935.3(HMCN1):c.14034T>G (p.Gly4678=)
|
rs755352114
|
0.00001
|
NM_031935.3(HMCN1):c.14150G>A (p.Gly4717Glu)
|
rs1207896972
|
0.00001
|
NM_031935.3(HMCN1):c.14229T>A (p.Asp4743Glu)
|
rs746810106
|
0.00001
|
NM_031935.3(HMCN1):c.14591A>G (p.Asn4864Ser)
|
rs1158025720
|
0.00001
|
NM_031935.3(HMCN1):c.14635G>A (p.Val4879Ile)
|
rs747136780
|
0.00001
|
NM_031935.3(HMCN1):c.14718A>C (p.Arg4906Ser)
|
rs1365182044
|
0.00001
|
NM_031935.3(HMCN1):c.14896+8T>A
|
rs767566761
|
0.00001
|
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)
|
rs536701183
|
0.00001
|
NM_031935.3(HMCN1):c.15450G>A (p.Glu5150=)
|
rs538514435
|
0.00001
|
NM_031935.3(HMCN1):c.15499A>G (p.Thr5167Ala)
|
rs201241621
|
0.00001
|
NM_031935.3(HMCN1):c.154A>G (p.Met52Val)
|
rs778944028
|
0.00001
|
NM_031935.3(HMCN1):c.1553-12G>T
|
rs1205046727
|
0.00001
|
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val)
|
rs748823261
|
0.00001
|
NM_031935.3(HMCN1):c.15744C>T (p.Thr5248=)
|
rs773089753
|
0.00001
|
NM_031935.3(HMCN1):c.15755A>G (p.Tyr5252Cys)
|
rs753251897
|
0.00001
|
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=)
|
rs373461955
|
0.00001
|
NM_031935.3(HMCN1):c.16048G>A (p.Asp5350Asn)
|
rs770590855
|
0.00001
|
NM_031935.3(HMCN1):c.1624C>G (p.Leu542Val)
|
rs982976924
|
0.00001
|
NM_031935.3(HMCN1):c.16294+7G>T
|
rs553948621
|
0.00001
|
NM_031935.3(HMCN1):c.16638C>T (p.Ala5546=)
|
rs1486169938
|
0.00001
|
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala)
|
rs771757920
|
0.00001
|
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln)
|
rs748032823
|
0.00001
|
NM_031935.3(HMCN1):c.1683A>C (p.Arg561Ser)
|
rs1278087925
|
0.00001
|
NM_031935.3(HMCN1):c.1971-15G>A
|
rs1460221233
|
0.00001
|
NM_031935.3(HMCN1):c.2096T>C (p.Ile699Thr)
|
rs746494097
|
0.00001
|
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp)
|
rs1046849931
|
0.00001
|
NM_031935.3(HMCN1):c.2269T>C (p.Leu757=)
|
rs1159764701
|
0.00001
|
NM_031935.3(HMCN1):c.2276T>G (p.Ile759Ser)
|
rs1005373074
|
0.00001
|
NM_031935.3(HMCN1):c.2310T>C (p.Tyr770=)
|
rs1255076720
|
0.00001
|
NM_031935.3(HMCN1):c.2575G>T (p.Ala859Ser)
|
rs1274918563
|
0.00001
|
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg)
|
rs368702685
|
0.00001
|
NM_031935.3(HMCN1):c.2734A>G (p.Thr912Ala)
|
rs763378460
|
0.00001
|
NM_031935.3(HMCN1):c.2791-9T>C
|
rs780685435
|
0.00001
|
NM_031935.3(HMCN1):c.302A>G (p.Lys101Arg)
|
rs774524448
|
0.00001
|
NM_031935.3(HMCN1):c.3208+15A>G
|
rs769373370
|
0.00001
|
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met)
|
rs762631011
|
0.00001
|
NM_031935.3(HMCN1):c.3377+10C>G
|
rs928644972
|
0.00001
|
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu)
|
rs780422973
|
0.00001
|
NM_031935.3(HMCN1):c.4200+6T>C
|
rs759273685
|
0.00001
|
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn)
|
rs762354666
|
0.00001
|
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser)
|
rs1332606772
|
0.00001
|
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His)
|
rs886045671
|
0.00001
|
NM_031935.3(HMCN1):c.4728G>A (p.Met1576Ile)
|
rs766255925
|
0.00001
|
NM_031935.3(HMCN1):c.4865A>G (p.Asn1622Ser)
|
rs755200248
|
0.00001
|
NM_031935.3(HMCN1):c.4938C>T (p.Ala1646=)
|
rs745685739
|
0.00001
|
NM_031935.3(HMCN1):c.498+11A>C
|
rs770974983
|
0.00001
|
NM_031935.3(HMCN1):c.5091C>T (p.Leu1697=)
|
rs763098500
|
0.00001
|
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile)
|
rs766434071
|
0.00001
|
NM_031935.3(HMCN1):c.5362C>T (p.Arg1788Cys)
|
rs773084610
|
0.00001
|
NM_031935.3(HMCN1):c.540T>C (p.His180=)
|
rs780108870
|
0.00001
|
NM_031935.3(HMCN1):c.5556G>A (p.Gly1852=)
|
rs771819699
|
0.00001
|
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=)
|
rs769758485
|
0.00001
|
NM_031935.3(HMCN1):c.5721A>G (p.Thr1907=)
|
rs1031893642
|
0.00001
|
NM_031935.3(HMCN1):c.5749+16C>T
|
rs1454526890
|
0.00001
|
NM_031935.3(HMCN1):c.5750-10C>T
|
rs773661619
|
0.00001
|
NM_031935.3(HMCN1):c.5885C>T (p.Ser1962Leu)
|
rs367776519
|
0.00001
|
NM_031935.3(HMCN1):c.6028+15A>G
|
rs779001149
|
0.00001
|
NM_031935.3(HMCN1):c.6181-7T>C
|
rs373788542
|
0.00001
|
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=)
|
rs777752487
|
0.00001
|
NM_031935.3(HMCN1):c.6295C>T (p.Arg2099Ter)
|
rs483352758
|
0.00001
|
NM_031935.3(HMCN1):c.6420C>T (p.Asp2140=)
|
rs1413433754
|
0.00001
|
NM_031935.3(HMCN1):c.6421G>A (p.Gly2141Ser)
|
rs964866048
|
0.00001
|
NM_031935.3(HMCN1):c.6863-3C>T
|
rs770154240
|
0.00001
|
NM_031935.3(HMCN1):c.6909T>C (p.Ile2303=)
|
rs767616401
|
0.00001
|
NM_031935.3(HMCN1):c.6941G>A (p.Cys2314Tyr)
|
rs1657250072
|
0.00001
|
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile)
|
rs530178194
|
0.00001
|
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val)
|
rs1167111929
|
0.00001
|
NM_031935.3(HMCN1):c.7163G>A (p.Gly2388Glu)
|
rs550906893
|
0.00001
|
NM_031935.3(HMCN1):c.7392T>C (p.Gly2464=)
|
rs548624423
|
0.00001
|
NM_031935.3(HMCN1):c.7427-15G>T
|
rs1339019234
|
0.00001
|
NM_031935.3(HMCN1):c.7445G>A (p.Gly2482Asp)
|
rs372591014
|
0.00001
|
NM_031935.3(HMCN1):c.7477G>C (p.Glu2493Gln)
|
rs771719125
|
0.00001
|
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys)
|
rs573119781
|
0.00001
|
NM_031935.3(HMCN1):c.7647A>G (p.Thr2549=)
|
rs368837087
|
0.00001
|
NM_031935.3(HMCN1):c.7720G>A (p.Ala2574Thr)
|
rs201302454
|
0.00001
|
NM_031935.3(HMCN1):c.793+9T>C
|
rs375021941
|
0.00001
|
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg)
|
rs1172387552
|
0.00001
|
NM_031935.3(HMCN1):c.7978G>A (p.Glu2660Lys)
|
rs985818530
|
0.00001
|
NM_031935.3(HMCN1):c.7993+16A>G
|
rs1017402724
|
0.00001
|
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe)
|
rs201586866
|
0.00001
|
NM_031935.3(HMCN1):c.8151C>T (p.Ser2717=)
|
rs371109396
|
0.00001
|
NM_031935.3(HMCN1):c.8290+9A>G
|
rs752215784
|
0.00001
|
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile)
|
rs376875658
|
0.00001
|
NM_031935.3(HMCN1):c.8631T>A (p.Asp2877Glu)
|
rs913131873
|
0.00001
|
NM_031935.3(HMCN1):c.8885-17del
|
rs1241301302
|
0.00001
|
NM_031935.3(HMCN1):c.8925C>T (p.Thr2975=)
|
rs768922365
|
0.00001
|
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met)
|
rs556443296
|
0.00001
|
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu)
|
rs574155244
|
0.00001
|
NM_031935.3(HMCN1):c.900+12T>C
|
rs952357263
|
0.00001
|
NM_031935.3(HMCN1):c.9012C>T (p.Pro3004=)
|
rs201032456
|
0.00001
|
NM_031935.3(HMCN1):c.9116A>G (p.Asn3039Ser)
|
rs1030947907
|
0.00001
|
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys)
|
rs747230633
|
0.00001
|
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His)
|
rs375407833
|
0.00001
|
NM_031935.3(HMCN1):c.9170G>A (p.Ser3057Asn)
|
rs754932740
|
0.00001
|
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg)
|
rs748058327
|
0.00001
|
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr)
|
rs886045676
|
0.00001
|
NM_031935.3(HMCN1):c.9452C>A (p.Pro3151His)
|
rs779141963
|
0.00001
|
NM_031935.3(HMCN1):c.9564C>T (p.Asn3188=)
|
rs765030856
|
0.00001
|
NM_031935.3(HMCN1):c.9570G>A (p.Lys3190=)
|
rs1195586500
|
0.00001
|
NM_031935.3(HMCN1):c.9888-12T>A
|
rs746649687
|
0.00001
|
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser)
|
rs146969586
|
0.00001
|
GRCh37/hg19 1q25.3(chr1:185783936-185794315)x0
|
|
|
GRCh37/hg19 1q25.3(chr1:185784104-185785224)x0
|
|
|
GRCh37/hg19 1q25.3-31.1(chr1:185783936-185864512)x0
|
|
|
GRCh37/hg19 1q31.1(chr1:185892764-186021430)x1
|
|
|
NC_000001.10:g.(?_186022937)_(186023138_?)del
|
|
|
NC_000001.10:g.(?_186105780)_(186136094_?)dup
|
|
|
NC_000001.10:g.(?_186147528)_(186159010_?)del
|
|
|
NM_031935.3(HMCN1):c.10006G>A (p.Val3336Ile)
|
|
|
NM_031935.3(HMCN1):c.10010A>G (p.Tyr3337Cys)
|
|
|
NM_031935.3(HMCN1):c.10012+10A>G
|
|
|
NM_031935.3(HMCN1):c.10012+14A>G
|
|
|
NM_031935.3(HMCN1):c.10012+9G>T
|
|
|
NM_031935.3(HMCN1):c.10013-7A>C
|
rs748670419
|
|
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
|
|
|
NM_031935.3(HMCN1):c.10085T>C (p.Ile3362Thr)
|
|
|
NM_031935.3(HMCN1):c.10103G>C (p.Gly3368Ala)
|
|
|
NM_031935.3(HMCN1):c.10106C>T (p.Thr3369Met)
|
|
|
NM_031935.3(HMCN1):c.10107G>A (p.Thr3369=)
|
|
|
NM_031935.3(HMCN1):c.10129C>T (p.Leu3377=)
|
|
|
NM_031935.3(HMCN1):c.10140A>G (p.Gly3380=)
|
|
|
NM_031935.3(HMCN1):c.10150C>A (p.Pro3384Thr)
|
|
|
NM_031935.3(HMCN1):c.10153C>G (p.Leu3385Val)
|
|
|
NM_031935.3(HMCN1):c.10164T>C (p.His3388=)
|
|
|
NM_031935.3(HMCN1):c.10165A>G (p.Ile3389Val)
|
|
|
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
|
|
|
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln)
|
rs369620574
|
|
NM_031935.3(HMCN1):c.10182A>C (p.Ala3394=)
|
|
|
NM_031935.3(HMCN1):c.10184G>C (p.Gly3395Ala)
|
|
|
NM_031935.3(HMCN1):c.10187A>C (p.Gln3396Pro)
|
rs2102418182
|
|
NM_031935.3(HMCN1):c.10201G>C (p.Val3401Leu)
|
|
|
NM_031935.3(HMCN1):c.1021+15A>T
|
|
|
NM_031935.3(HMCN1):c.10213G>T (p.Val3405Leu)
|
|
|
NM_031935.3(HMCN1):c.1022-7C>T
|
|
|
NM_031935.3(HMCN1):c.10224C>T (p.Val3408=)
|
|
|
NM_031935.3(HMCN1):c.10225G>A (p.Ala3409Thr)
|
|
|
NM_031935.3(HMCN1):c.10276T>C (p.Tyr3426His)
|
|
|
NM_031935.3(HMCN1):c.10279A>G (p.Asn3427Asp)
|
|
|
NM_031935.3(HMCN1):c.10288G>C (p.Val3430Leu)
|
|
|
NM_031935.3(HMCN1):c.10294+10A>C
|
|
|
NM_031935.3(HMCN1):c.10294+12A>G
|
|
|
NM_031935.3(HMCN1):c.10295-6A>G
|
|
|
NM_031935.3(HMCN1):c.10299A>G (p.Pro3433=)
|
|
|
NM_031935.3(HMCN1):c.10342C>T (p.Leu3448Phe)
|
|
|
NM_031935.3(HMCN1):c.10348G>A (p.Gly3450Ser)
|
|
|
NM_031935.3(HMCN1):c.10349G>A (p.Gly3450Asp)
|
|
|
NM_031935.3(HMCN1):c.10358C>T (p.Thr3453Ile)
|
|
|
NM_031935.3(HMCN1):c.10361C>T (p.Ser3454Phe)
|
|
|
NM_031935.3(HMCN1):c.10363A>C (p.Met3455Leu)
|
|
|
NM_031935.3(HMCN1):c.10363A>G (p.Met3455Val)
|
rs766461506
|
|
NM_031935.3(HMCN1):c.10376C>G (p.Thr3459Ser)
|
|
|
NM_031935.3(HMCN1):c.1037T>C (p.Val346Ala)
|
|
|
NM_031935.3(HMCN1):c.10383A>C (p.Gly3461=)
|
|
|
NM_031935.3(HMCN1):c.10389A>C (p.Pro3463=)
|
|
|
NM_031935.3(HMCN1):c.10398T>C (p.Ser3466=)
|
|
|
NM_031935.3(HMCN1):c.10399A>T (p.Met3467Leu)
|
|
|
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly)
|
rs201041141
|
|
NM_031935.3(HMCN1):c.10442A>G (p.His3481Arg)
|
|
|
NM_031935.3(HMCN1):c.10453A>G (p.Ser3485Gly)
|
|
|
NM_031935.3(HMCN1):c.10463G>T (p.Gly3488Val)
|
|
|
NM_031935.3(HMCN1):c.10464A>T (p.Gly3488=)
|
rs2102422991
|
|
NM_031935.3(HMCN1):c.10467G>T (p.Met3489Ile)
|
|
|
NM_031935.3(HMCN1):c.10477C>G (p.Leu3493Val)
|
|
|
NM_031935.3(HMCN1):c.10482C>G (p.Leu3494=)
|
|
|
NM_031935.3(HMCN1):c.10502C>T (p.Ser3501Leu)
|
|
|
NM_031935.3(HMCN1):c.10508A>G (p.Lys3503Arg)
|
|
|
NM_031935.3(HMCN1):c.10512C>T (p.Tyr3504=)
|
|
|
NM_031935.3(HMCN1):c.10545C>A (p.Val3515=)
|
rs2102423250
|
|
NM_031935.3(HMCN1):c.10552C>A (p.His3518Asn)
|
|
|
NM_031935.3(HMCN1):c.10563C>T (p.Leu3521=)
|
|
|
NM_031935.3(HMCN1):c.10570C>A (p.Leu3524Ile)
|
|
|
NM_031935.3(HMCN1):c.10573+13T>C
|
|
|
NM_031935.3(HMCN1):c.10573G>A (p.Glu3525Lys)
|
|
|
NM_031935.3(HMCN1):c.10574-10C>T
|
|
|
NM_031935.3(HMCN1):c.10623T>C (p.Ile3541=)
|
|
|
NM_031935.3(HMCN1):c.10632C>T (p.Asn3544=)
|
|
|
NM_031935.3(HMCN1):c.10634del (p.Pro3545fs)
|
rs2102444389
|
|
NM_031935.3(HMCN1):c.10647C>G (p.Thr3549=)
|
|
|
NM_031935.3(HMCN1):c.10654G>A (p.Ala3552Thr)
|
|
|
NM_031935.3(HMCN1):c.10661G>T (p.Gly3554Val)
|
|
|
NM_031935.3(HMCN1):c.10665C>T (p.Ile3555=)
|
|
|
NM_031935.3(HMCN1):c.10682C>T (p.Thr3561Ile)
|
|
|
NM_031935.3(HMCN1):c.10683C>T (p.Thr3561=)
|
|
|
NM_031935.3(HMCN1):c.10687A>G (p.Met3563Val)
|
|
|
NM_031935.3(HMCN1):c.10700G>A (p.Arg3567Gln)
|
|
|
NM_031935.3(HMCN1):c.10704C>T (p.Pro3568=)
|
|
|
NM_031935.3(HMCN1):c.10715C>T (p.Thr3572Met)
|
|
|
NM_031935.3(HMCN1):c.10718A>T (p.Asp3573Val)
|
|
|
NM_031935.3(HMCN1):c.10723G>A (p.Val3575Met)
|
|
|
NM_031935.3(HMCN1):c.10729A>T (p.Thr3577Ser)
|
|
|
NM_031935.3(HMCN1):c.10739G>A (p.Gly3580Glu)
|
|
|
NM_031935.3(HMCN1):c.10742G>A (p.Gly3581Glu)
|
|
|
NM_031935.3(HMCN1):c.10746G>C (p.Glu3582Asp)
|
|
|
NM_031935.3(HMCN1):c.10747G>A (p.Val3583Ile)
|
|
|
NM_031935.3(HMCN1):c.10754G>A (p.Arg3585Gln)
|
|
|
NM_031935.3(HMCN1):c.10754G>C (p.Arg3585Pro)
|
|
|
NM_031935.3(HMCN1):c.10757T>G (p.Ile3586Ser)
|
|
|
NM_031935.3(HMCN1):c.10770+19A>T
|
|
|
NM_031935.3(HMCN1):c.10771-10G>C
|
rs753273442
|
|
NM_031935.3(HMCN1):c.10791T>C (p.Tyr3597=)
|
|
|
NM_031935.3(HMCN1):c.10797T>C (p.Cys3599=)
|
|
|
NM_031935.3(HMCN1):c.10800G>A (p.Leu3600=)
|
rs1571359760
|
|
NM_031935.3(HMCN1):c.10816G>A (p.Gly3606Arg)
|
|
|
NM_031935.3(HMCN1):c.1081CTT[1] (p.Leu362del)
|
|
|
NM_031935.3(HMCN1):c.10830G>C (p.Lys3610Asn)
|
|
|
NM_031935.3(HMCN1):c.10842G>A (p.Val3614=)
|
|
|
NM_031935.3(HMCN1):c.10844G>A (p.Arg3615Lys)
|
|
|
NM_031935.3(HMCN1):c.10845A>G (p.Arg3615=)
|
|
|
NM_031935.3(HMCN1):c.10852+18T>C
|
|
|
NM_031935.3(HMCN1):c.10853-18A>G
|
|
|
NM_031935.3(HMCN1):c.10853-5C>A
|
|
|
NM_031935.3(HMCN1):c.10853-7C>T
|
|
|
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
|
|
|
NM_031935.3(HMCN1):c.10868C>G (p.Ala3623Gly)
|
|
|
NM_031935.3(HMCN1):c.10874C>G (p.Thr3625Ser)
|
|
|
NM_031935.3(HMCN1):c.10885C>T (p.Arg3629Trp)
|
|
|
NM_031935.3(HMCN1):c.10886G>A (p.Arg3629Gln)
|
|
|
NM_031935.3(HMCN1):c.10893C>A (p.Ile3631=)
|
|
|
NM_031935.3(HMCN1):c.10896T>C (p.Thr3632=)
|
|
|
NM_031935.3(HMCN1):c.10897G>A (p.Val3633Met)
|
|
|
NM_031935.3(HMCN1):c.10904G>A (p.Arg3635Gln)
|
|
|
NM_031935.3(HMCN1):c.10907A>G (p.Asn3636Ser)
|
|
|
NM_031935.3(HMCN1):c.10944G>A (p.Val3648=)
|
|
|
NM_031935.3(HMCN1):c.10947C>T (p.Pro3649=)
|
|
|
NM_031935.3(HMCN1):c.10948C>T (p.Pro3650Ser)
|
|
|
NM_031935.3(HMCN1):c.10949C>T (p.Pro3650Leu)
|
|
|
NM_031935.3(HMCN1):c.10953T>C (p.Pro3651=)
|
|
|
NM_031935.3(HMCN1):c.10975G>A (p.Gly3659Arg)
|
|
|
NM_031935.3(HMCN1):c.10976G>C (p.Gly3659Ala)
|
|
|
NM_031935.3(HMCN1):c.10981C>T (p.Arg3661Trp)
|
|
|
NM_031935.3(HMCN1):c.10982G>A (p.Arg3661Gln)
|
|
|
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro)
|
rs141818688
|
|
NM_031935.3(HMCN1):c.10989+16A>T
|
|
|
NM_031935.3(HMCN1):c.10989+3A>C
|
|
|
NM_031935.3(HMCN1):c.10989+4A>C
|
|
|
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
|
|
|
NM_031935.3(HMCN1):c.11000G>A (p.Arg3667Gln)
|
|
|
NM_031935.3(HMCN1):c.11006G>T (p.Arg3669Leu)
|
|
|
NM_031935.3(HMCN1):c.11012T>C (p.Leu3671Pro)
|
|
|
NM_031935.3(HMCN1):c.11040C>T (p.Asn3680=)
|
|
|
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala)
|
rs145492995
|
|
NM_031935.3(HMCN1):c.11059A>G (p.Thr3687Ala)
|
|
|
NM_031935.3(HMCN1):c.11060C>G (p.Thr3687Arg)
|
|
|
NM_031935.3(HMCN1):c.11064C>A (p.Ala3688=)
|
rs2102468918
|
|
NM_031935.3(HMCN1):c.1106G>C (p.Gly369Ala)
|
|
|
NM_031935.3(HMCN1):c.11070T>C (p.Tyr3690=)
|
|
|
NM_031935.3(HMCN1):c.11080G>T (p.Ala3694Ser)
|
|
|
NM_031935.3(HMCN1):c.11085C>T (p.Ser3695=)
|
|
|
NM_031935.3(HMCN1):c.11089A>G (p.Ile3697Val)
|
|
|
NM_031935.3(HMCN1):c.11091T>C (p.Ile3697=)
|
|
|
NM_031935.3(HMCN1):c.11106A>G (p.Thr3702=)
|
|
|
NM_031935.3(HMCN1):c.11125G>A (p.Val3709Ile)
|
rs2102469102
|
|
NM_031935.3(HMCN1):c.11131+10G>T
|
|
|
NM_031935.3(HMCN1):c.11131+18T>C
|
|
|
NM_031935.3(HMCN1):c.11131+19T>G
|
|
|
NM_031935.3(HMCN1):c.11132-6G>A
|
|
|
NM_031935.3(HMCN1):c.11153G>A (p.Gly3718Asp)
|
|
|
NM_031935.3(HMCN1):c.11153G>T (p.Gly3718Val)
|
|
|
NM_031935.3(HMCN1):c.11157C>T (p.Pro3719=)
|
rs2102471489
|
|
NM_031935.3(HMCN1):c.11158C>A (p.Gln3720Lys)
|
|
|
NM_031935.3(HMCN1):c.11168T>C (p.Val3723Ala)
|
|
|
NM_031935.3(HMCN1):c.11174T>C (p.Leu3725Pro)
|
|
|
NM_031935.3(HMCN1):c.11180A>G (p.Asn3727Ser)
|
|
|
NM_031935.3(HMCN1):c.11191G>T (p.Val3731Leu)
|
rs773110395
|
|
NM_031935.3(HMCN1):c.11199A>C (p.Glu3733Asp)
|
|
|
NM_031935.3(HMCN1):c.11212G>A (p.Gly3738Ser)
|
|
|
NM_031935.3(HMCN1):c.1121C>T (p.Thr374Ile)
|
|
|
NM_031935.3(HMCN1):c.11220A>G (p.Pro3740=)
|
|
|
NM_031935.3(HMCN1):c.11223T>C (p.Thr3741=)
|
|
|
NM_031935.3(HMCN1):c.11244G>A (p.Lys3748=)
|
|
|
NM_031935.3(HMCN1):c.11245G>A (p.Asp3749Asn)
|
|
|
NM_031935.3(HMCN1):c.11255T>G (p.Val3752Gly)
|
|
|
NM_031935.3(HMCN1):c.11264G>A (p.Gly3755Glu)
|
|
|
NM_031935.3(HMCN1):c.11267A>G (p.Asn3756Ser)
|
|
|
NM_031935.3(HMCN1):c.11274A>G (p.Ala3758=)
|
|
|
NM_031935.3(HMCN1):c.11276+10C>G
|
|
|
NM_031935.3(HMCN1):c.11276+14A>G
|
rs1396302930
|
|
NM_031935.3(HMCN1):c.11276+7A>G
|
rs372107481
|
|
NM_031935.3(HMCN1):c.11277-15T>C
|
|
|
NM_031935.3(HMCN1):c.11277-18T>A
|
|
|
NM_031935.3(HMCN1):c.11277-6T>C
|
|
|
NM_031935.3(HMCN1):c.11277-7C>T
|
|
|
NM_031935.3(HMCN1):c.11277-9C>G
|
|
|
NM_031935.3(HMCN1):c.11306A>G (p.His3769Arg)
|
|
|
NM_031935.3(HMCN1):c.11313A>G (p.Gln3771=)
|
|
|
NM_031935.3(HMCN1):c.11315C>T (p.Ser3772Leu)
|
|
|
NM_031935.3(HMCN1):c.11318C>T (p.Ala3773Val)
|
|
|
NM_031935.3(HMCN1):c.11319A>C (p.Ala3773=)
|
|
|
NM_031935.3(HMCN1):c.1132A>G (p.Lys378Glu)
|
|
|
NM_031935.3(HMCN1):c.11333C>A (p.Thr3778Asn)
|
|
|
NM_031935.3(HMCN1):c.11338C>T (p.Arg3780Trp)
|
|
|
NM_031935.3(HMCN1):c.11342A>G (p.Tyr3781Cys)
|
|
|
NM_031935.3(HMCN1):c.11356A>T (p.Thr3786Ser)
|
|
|
NM_031935.3(HMCN1):c.11358C>G (p.Thr3786=)
|
|
|
NM_031935.3(HMCN1):c.11362G>A (p.Ala3788Thr)
|
rs777989791
|
|
NM_031935.3(HMCN1):c.11384G>A (p.Arg3795Gln)
|
|
|
NM_031935.3(HMCN1):c.11400C>G (p.Val3800=)
|
|
|
NM_031935.3(HMCN1):c.11402A>T (p.His3801Leu)
|
|
|
NM_031935.3(HMCN1):c.11404+10C>G
|
|
|
NM_031935.3(HMCN1):c.11404+9C>T
|
|
|
NM_031935.3(HMCN1):c.11412A>G (p.Pro3804=)
|
|
|
NM_031935.3(HMCN1):c.11433C>A (p.Thr3811=)
|
|
|
NM_031935.3(HMCN1):c.11433C>T (p.Thr3811=)
|
|
|
NM_031935.3(HMCN1):c.11437A>G (p.Met3813Val)
|
|
|
NM_031935.3(HMCN1):c.1143A>T (p.Pro381=)
|
|
|
NM_031935.3(HMCN1):c.11446A>C (p.Ile3816Leu)
|
|
|
NM_031935.3(HMCN1):c.11447T>A (p.Ile3816Lys)
|
rs748176085
|
|
NM_031935.3(HMCN1):c.1144C>T (p.His382Tyr)
|
rs753588061
|
|
NM_031935.3(HMCN1):c.11450T>G (p.Val3817Gly)
|
|
|
NM_031935.3(HMCN1):c.11461A>T (p.Thr3821Ser)
|
|
|
NM_031935.3(HMCN1):c.11463T>A (p.Thr3821=)
|
|
|
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
|
|
|
NM_031935.3(HMCN1):c.11467C>T (p.Leu3823=)
|
|
|
NM_031935.3(HMCN1):c.11484T>C (p.Thr3828=)
|
|
|
NM_031935.3(HMCN1):c.11488A>T (p.Ile3830Leu)
|
|
|
NM_031935.3(HMCN1):c.11491C>G (p.Pro3831Ala)
|
|
|
NM_031935.3(HMCN1):c.11505C>G (p.Ile3835Met)
|
|
|
NM_031935.3(HMCN1):c.11507A>G (p.Asn3836Ser)
|
rs767569555
|
|
NM_031935.3(HMCN1):c.11523G>A (p.Gly3841=)
|
|
|
NM_031935.3(HMCN1):c.11525A>G (p.His3842Arg)
|
|
|
NM_031935.3(HMCN1):c.11544A>G (p.Gln3848=)
|
|
|
NM_031935.3(HMCN1):c.11557T>C (p.Tyr3853His)
|
|
|
NM_031935.3(HMCN1):c.11561+20_11561+22del
|
|
|
NM_031935.3(HMCN1):c.11562-1G>A
|
|
|
NM_031935.3(HMCN1):c.11562G>T (p.Arg3854Ser)
|
|
|
NM_031935.3(HMCN1):c.11583A>G (p.Leu3861=)
|
|
|
NM_031935.3(HMCN1):c.1158T>C (p.Tyr386=)
|
rs2102477430
|
|
NM_031935.3(HMCN1):c.115G>A (p.Ala39Thr)
|
|
|
NM_031935.3(HMCN1):c.11617A>G (p.Thr3873Ala)
|
|
|
NM_031935.3(HMCN1):c.1162A>G (p.Ile388Val)
|
|
|
NM_031935.3(HMCN1):c.11638A>G (p.Asn3880Asp)
|
|
|
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
|
|
|
NM_031935.3(HMCN1):c.11660G>T (p.Arg3887Ile)
|
|
|
NM_031935.3(HMCN1):c.11663C>T (p.Thr3888Ile)
|
|
|
NM_031935.3(HMCN1):c.11664T>C (p.Thr3888=)
|
rs996571894
|
|
NM_031935.3(HMCN1):c.11665G>A (p.Val3889Met)
|
|
|
NM_031935.3(HMCN1):c.11669A>C (p.Asp3890Ala)
|
|
|
NM_031935.3(HMCN1):c.11683+16A>T
|
|
|
NM_031935.3(HMCN1):c.11683+6A>G
|
|
|
NM_031935.3(HMCN1):c.11684-10G>A
|
|
|
NM_031935.3(HMCN1):c.11684-12T>C
|
|
|
NM_031935.3(HMCN1):c.11684-18T>A
|
|
|
NM_031935.3(HMCN1):c.11684-21TTG[4]
|
|
|
NM_031935.3(HMCN1):c.11695A>G (p.Ile3899Val)
|
|
|
NM_031935.3(HMCN1):c.11706G>A (p.Glu3902=)
|
|
|
NM_031935.3(HMCN1):c.1170T>C (p.Asn390=)
|
|
|
NM_031935.3(HMCN1):c.11726C>T (p.Thr3909Ile)
|
|
|
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
|
|
|
NM_031935.3(HMCN1):c.11757T>C (p.Thr3919=)
|
|
|
NM_031935.3(HMCN1):c.11780C>T (p.Ser3927Leu)
|
|
|
NM_031935.3(HMCN1):c.11785C>T (p.His3929Tyr)
|
|
|
NM_031935.3(HMCN1):c.11789G>A (p.Trp3930Ter)
|
|
|
NM_031935.3(HMCN1):c.11793C>G (p.Thr3931=)
|
|
|
NM_031935.3(HMCN1):c.11812C>A (p.Leu3938Ile)
|
|
|
NM_031935.3(HMCN1):c.11822G>A (p.Gly3941Glu)
|
|
|
NM_031935.3(HMCN1):c.11826T>A (p.Asp3942Glu)
|
|
|
NM_031935.3(HMCN1):c.11830T>G (p.Tyr3944Asp)
|
|
|
NM_031935.3(HMCN1):c.11831A>G (p.Tyr3944Cys)
|
|
|
NM_031935.3(HMCN1):c.11840T>C (p.Leu3947Pro)
|
rs2102481670
|
|
NM_031935.3(HMCN1):c.11848+15del
|
|
|
NM_031935.3(HMCN1):c.11848+4A>C
|
|
|
NM_031935.3(HMCN1):c.11848+7C>T
|
|
|
NM_031935.3(HMCN1):c.11849-10del
|
rs201254359
|
|
NM_031935.3(HMCN1):c.11849-10dup
|
rs201254359
|
|
NM_031935.3(HMCN1):c.11849G>A (p.Gly3950Glu)
|
|
|
NM_031935.3(HMCN1):c.11863C>T (p.Leu3955Phe)
|
|
|
NM_031935.3(HMCN1):c.11867C>T (p.Ala3956Val)
|
|
|
NM_031935.3(HMCN1):c.11871C>G (p.Thr3957=)
|
rs370095269
|
|
NM_031935.3(HMCN1):c.11880C>A (p.Asn3960Lys)
|
|
|
NM_031935.3(HMCN1):c.11880C>T (p.Asn3960=)
|
|
|
NM_031935.3(HMCN1):c.11882A>G (p.His3961Arg)
|
|
|
NM_031935.3(HMCN1):c.11895C>T (p.Tyr3965=)
|
rs780038431
|
|
NM_031935.3(HMCN1):c.1189C>G (p.Pro397Ala)
|
|
|
NM_031935.3(HMCN1):c.11904C>T (p.Val3968=)
|
|
|
NM_031935.3(HMCN1):c.11905G>T (p.Ala3969Ser)
|
|
|
NM_031935.3(HMCN1):c.1191A>G (p.Pro397=)
|
|
|
NM_031935.3(HMCN1):c.11937C>T (p.His3979=)
|
|
|
NM_031935.3(HMCN1):c.11943C>A (p.Thr3981=)
|
|
|
NM_031935.3(HMCN1):c.11944C>T (p.Leu3982Phe)
|
|
|
NM_031935.3(HMCN1):c.11948A>G (p.His3983Arg)
|
|
|
NM_031935.3(HMCN1):c.11948A>T (p.His3983Leu)
|
|
|
NM_031935.3(HMCN1):c.11956+15T>C
|
|
|
NM_031935.3(HMCN1):c.11956+3A>T
|
|
|
NM_031935.3(HMCN1):c.11956+9_11956+17del
|
|
|
NM_031935.3(HMCN1):c.11957-12G>T
|
|
|
NM_031935.3(HMCN1):c.11957-16_11957-13dup
|
|
|
NM_031935.3(HMCN1):c.11957-9T>C
|
|
|
NM_031935.3(HMCN1):c.11971C>G (p.Gln3991Glu)
|
|
|
NM_031935.3(HMCN1):c.11974C>T (p.Pro3992Ser)
|
|
|
NM_031935.3(HMCN1):c.11981C>G (p.Pro3994Arg)
|
|
|
NM_031935.3(HMCN1):c.12006C>T (p.Asn4002=)
|
|
|
NM_031935.3(HMCN1):c.12041C>T (p.Thr4014Ile)
|
|
|
NM_031935.3(HMCN1):c.12060T>C (p.Thr4020=)
|
|
|
NM_031935.3(HMCN1):c.12066A>G (p.Gln4022=)
|
|
|
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
|
|
|
NM_031935.3(HMCN1):c.12093A>C (p.Ser4031=)
|
|
|
NM_031935.3(HMCN1):c.12094+11C>A
|
|
|
NM_031935.3(HMCN1):c.12095-18T>A
|
|
|
NM_031935.3(HMCN1):c.12102C>T (p.Asn4034=)
|
|
|
NM_031935.3(HMCN1):c.12107C>T (p.Ala4036Val)
|
|
|
NM_031935.3(HMCN1):c.12111T>A (p.Val4037=)
|
|
|
NM_031935.3(HMCN1):c.12112C>T (p.Leu4038Phe)
|
|
|
NM_031935.3(HMCN1):c.12115C>G (p.Pro4039Ala)
|
|
|
NM_031935.3(HMCN1):c.12123C>T (p.Gly4041=)
|
|
|
NM_031935.3(HMCN1):c.12124G>A (p.Gly4042Ser)
|
|
|
NM_031935.3(HMCN1):c.12163A>G (p.Thr4055Ala)
|
rs2102488229
|
|
NM_031935.3(HMCN1):c.12169A>C (p.Met4057Leu)
|
|
|
NM_031935.3(HMCN1):c.12169A>G (p.Met4057Val)
|
|
|
NM_031935.3(HMCN1):c.12178G>A (p.Ala4060Thr)
|
|
|
NM_031935.3(HMCN1):c.12183G>A (p.Gln4061=)
|
|
|
NM_031935.3(HMCN1):c.12186C>T (p.Asn4062=)
|
|
|
NM_031935.3(HMCN1):c.12188C>T (p.Pro4063Leu)
|
|
|
NM_031935.3(HMCN1):c.12197C>G (p.Thr4066Arg)
|
|
|
NM_031935.3(HMCN1):c.12201C>T (p.Ala4067=)
|
|
|
NM_031935.3(HMCN1):c.12205G>A (p.Gly4069Ser)
|
|
|
NM_031935.3(HMCN1):c.12224T>C (p.Val4075Ala)
|
|
|
NM_031935.3(HMCN1):c.12229+20_12229+21del
|
|
|
NM_031935.3(HMCN1):c.1222T>C (p.Tyr408His)
|
|
|
NM_031935.3(HMCN1):c.12230-11G>C
|
|
|
NM_031935.3(HMCN1):c.12239T>G (p.Val4080Gly)
|
|
|
NM_031935.3(HMCN1):c.1223A>G (p.Tyr408Cys)
|
|
|
NM_031935.3(HMCN1):c.12242T>C (p.Ile4081Thr)
|
|
|
NM_031935.3(HMCN1):c.12246C>T (p.Ser4082=)
|
|
|
NM_031935.3(HMCN1):c.12248C>T (p.Pro4083Leu)
|
|
|
NM_031935.3(HMCN1):c.12258G>A (p.Lys4086=)
|
|
|
NM_031935.3(HMCN1):c.12260A>T (p.Glu4087Val)
|
|
|
NM_031935.3(HMCN1):c.12269T>C (p.Ile4090Thr)
|
|
|
NM_031935.3(HMCN1):c.12275T>G (p.Val4092Gly)
|
|
|
NM_031935.3(HMCN1):c.12284C>T (p.Pro4095Leu)
|
rs761375779
|
|
NM_031935.3(HMCN1):c.12305C>G (p.Ala4102Gly)
|
|
|
NM_031935.3(HMCN1):c.1231G>A (p.Asp411Asn)
|
|
|
NM_031935.3(HMCN1):c.12325G>A (p.Asp4109Asn)
|
|
|
NM_031935.3(HMCN1):c.12333A>C (p.Thr4111=)
|
|
|
NM_031935.3(HMCN1):c.12333A>G (p.Thr4111=)
|
|
|
NM_031935.3(HMCN1):c.1233T>C (p.Asp411=)
|
|
|
NM_031935.3(HMCN1):c.12347G>T (p.Gly4116Val)
|
|
|
NM_031935.3(HMCN1):c.12348G>A (p.Gly4116=)
|
|
|
NM_031935.3(HMCN1):c.12370C>T (p.Arg4124Cys)
|
|
|
NM_031935.3(HMCN1):c.12371G>A (p.Arg4124His)
|
|
|
NM_031935.3(HMCN1):c.12378C>T (p.Arg4126=)
|
|
|
NM_031935.3(HMCN1):c.12388T>C (p.Ser4130Pro)
|
|
|
NM_031935.3(HMCN1):c.12402A>G (p.Gln4134=)
|
|
|
NM_031935.3(HMCN1):c.12413T>C (p.Val4138Ala)
|
rs1430000255
|
|
NM_031935.3(HMCN1):c.12428C>G (p.Ala4143Gly)
|
|
|
NM_031935.3(HMCN1):c.12456T>C (p.Asn4152=)
|
|
|
NM_031935.3(HMCN1):c.12493G>A (p.Val4165Ile)
|
|
|
NM_031935.3(HMCN1):c.12500-15_12500-14del
|
|
|
NM_031935.3(HMCN1):c.12500-8C>T
|
|
|
NM_031935.3(HMCN1):c.12502C>T (p.Pro4168Ser)
|
|
|
NM_031935.3(HMCN1):c.12507C>G (p.Pro4169=)
|
|
|
NM_031935.3(HMCN1):c.12527G>T (p.Gly4176Val)
|
|
|
NM_031935.3(HMCN1):c.12531C>G (p.His4177Gln)
|
|
|
NM_031935.3(HMCN1):c.12535A>G (p.Thr4179Ala)
|
|
|
NM_031935.3(HMCN1):c.12537G>A (p.Thr4179=)
|
|
|
NM_031935.3(HMCN1):c.12545A>G (p.Glu4182Gly)
|
|
|
NM_031935.3(HMCN1):c.12554A>C (p.Gln4185Pro)
|
|
|
NM_031935.3(HMCN1):c.12590C>T (p.Thr4197Ile)
|
|
|
NM_031935.3(HMCN1):c.12603C>T (p.Asn4201=)
|
|
|
NM_031935.3(HMCN1):c.12604T>A (p.Trp4202Arg)
|
|
|
NM_031935.3(HMCN1):c.12617A>G (p.Asn4206Ser)
|
|
|
NM_031935.3(HMCN1):c.12624T>C (p.Leu4208=)
|
|
|
NM_031935.3(HMCN1):c.12654T>C (p.Ala4218=)
|
|
|
NM_031935.3(HMCN1):c.12659C>T (p.Pro4220Leu)
|
|
|
NM_031935.3(HMCN1):c.12669A>C (p.Glu4223Asp)
|
|
|
NM_031935.3(HMCN1):c.12680A>G (p.Glu4227Gly)
|
|
|
NM_031935.3(HMCN1):c.12690+15C>G
|
rs374516199
|
|
NM_031935.3(HMCN1):c.12690+15C>T
|
|
|
NM_031935.3(HMCN1):c.12690+3_12690+7dup
|
rs750497296
|
|
NM_031935.3(HMCN1):c.12691-12_12691-9del
|
rs751950084
|
|
NM_031935.3(HMCN1):c.12691-16C>T
|
|
|
NM_031935.3(HMCN1):c.12691-17A>C
|
|
|
NM_031935.3(HMCN1):c.126_127delinsTT (p.Leu42_Ala43delinsPheSer)
|
|
|
NM_031935.3(HMCN1):c.12720T>C (p.Val4240=)
|
|
|
NM_031935.3(HMCN1):c.12725A>T (p.Asn4242Ile)
|
|
|
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
|
|
|
NM_031935.3(HMCN1):c.12730G>A (p.Ala4244Thr)
|
|
|
NM_031935.3(HMCN1):c.12737G>A (p.Gly4246Asp)
|
|
|
NM_031935.3(HMCN1):c.1273A>T (p.Ser425Cys)
|
|
|
NM_031935.3(HMCN1):c.12744T>C (p.Asp4248=)
|
|
|
NM_031935.3(HMCN1):c.12745A>T (p.Thr4249Ser)
|
|
|
NM_031935.3(HMCN1):c.12753T>A (p.Thr4251=)
|
rs1349163721
|
|
NM_031935.3(HMCN1):c.12761T>C (p.Leu4254Pro)
|
|
|
NM_031935.3(HMCN1):c.12765T>A (p.Thr4255=)
|
|
|
NM_031935.3(HMCN1):c.1276A>C (p.Ile426Leu)
|
|
|
NM_031935.3(HMCN1):c.12777C>T (p.Leu4259=)
|
rs758029050
|
|
NM_031935.3(HMCN1):c.12788C>T (p.Thr4263Ile)
|
|
|
NM_031935.3(HMCN1):c.12793C>A (p.Leu4265Ile)
|
|
|
NM_031935.3(HMCN1):c.12805G>A (p.Val4269Met)
|
|
|
NM_031935.3(HMCN1):c.12807G>A (p.Val4269=)
|
|
|
NM_031935.3(HMCN1):c.12821G>C (p.Gly4274Ala)
|
|
|
NM_031935.3(HMCN1):c.12833G>A (p.Arg4278Gln)
|
|
|
NM_031935.3(HMCN1):c.12839G>C (p.Ser4280Thr)
|
|
|
NM_031935.3(HMCN1):c.1286-18T>A
|
|
|
NM_031935.3(HMCN1):c.1286-6dup
|
|
|
NM_031935.3(HMCN1):c.12861A>G (p.Pro4287=)
|
rs151052679
|
|
NM_031935.3(HMCN1):c.12864G>C (p.Leu4288Phe)
|
|
|
NM_031935.3(HMCN1):c.12887A>G (p.Asn4296Ser)
|
|
|
NM_031935.3(HMCN1):c.12904+14T>C
|
rs1661747290
|
|
NM_031935.3(HMCN1):c.12905-14_12905-12del
|
rs532775140
|
|
NM_031935.3(HMCN1):c.12905-18G>T
|
|
|
NM_031935.3(HMCN1):c.12905-1G>A
|
|
|
NM_031935.3(HMCN1):c.12906C>G (p.Ala4302=)
|
rs144437187
|
|
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=)
|
rs144437187
|
|
NM_031935.3(HMCN1):c.12920T>C (p.Val4307Ala)
|
|
|
NM_031935.3(HMCN1):c.12926G>A (p.Gly4309Glu)
|
|
|
NM_031935.3(HMCN1):c.12931A>C (p.Ser4311Arg)
|
|
|
NM_031935.3(HMCN1):c.12952G>A (p.Val4318Met)
|
|
|
NM_031935.3(HMCN1):c.12953T>G (p.Val4318Gly)
|
|
|
NM_031935.3(HMCN1):c.12957A>C (p.Ser4319=)
|
|
|
NM_031935.3(HMCN1):c.12970G>A (p.Gly4324Ser)
|
|
|
NM_031935.3(HMCN1):c.12978T>C (p.Tyr4326=)
|
|
|
NM_031935.3(HMCN1):c.12979G>A (p.Val4327Met)
|
|
|
NM_031935.3(HMCN1):c.1297G>A (p.Val433Ile)
|
rs1381049052
|
|
NM_031935.3(HMCN1):c.12988G>A (p.Ala4330Thr)
|
|
|
NM_031935.3(HMCN1):c.12989C>T (p.Ala4330Val)
|
|
|
NM_031935.3(HMCN1):c.13000G>A (p.Val4334Ile)
|
|
|
NM_031935.3(HMCN1):c.13017A>G (p.Ala4339=)
|
|
|
NM_031935.3(HMCN1):c.1301C>T (p.Thr434Met)
|
|
|
NM_031935.3(HMCN1):c.13021G>A (p.Gly4341Arg)
|
|
|
NM_031935.3(HMCN1):c.13027G>T (p.Val4343Phe)
|
|
|
NM_031935.3(HMCN1):c.13031A>T (p.Tyr4344Phe)
|
|
|
NM_031935.3(HMCN1):c.13039+19_13039+24del
|
|
|
NM_031935.3(HMCN1):c.13039+2T>G
|
|
|
NM_031935.3(HMCN1):c.13039+5G>A
|
|
|
NM_031935.3(HMCN1):c.13039+6G>A
|
|
|
NM_031935.3(HMCN1):c.13040-12del
|
|
|
NM_031935.3(HMCN1):c.13040-17C>A
|
rs188408113
|
|
NM_031935.3(HMCN1):c.13040-18T>A
|
|
|
NM_031935.3(HMCN1):c.13045_13046delinsGT (p.Pro4349Val)
|
rs2102516381
|
|
NM_031935.3(HMCN1):c.13047A>C (p.Pro4349=)
|
|
|
NM_031935.3(HMCN1):c.1304T>C (p.Met435Thr)
|
|
|
NM_031935.3(HMCN1):c.13057G>A (p.Gly4353Ser)
|
|
|
NM_031935.3(HMCN1):c.13063dup (p.Tyr4355fs)
|
|
|
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
|
|
|
NM_031935.3(HMCN1):c.13074C>A (p.Asn4358Lys)
|
|
|
NM_031935.3(HMCN1):c.13087C>G (p.Leu4363Val)
|
|
|
NM_031935.3(HMCN1):c.13093G>C (p.Gly4365Arg)
|
|
|
NM_031935.3(HMCN1):c.13102A>G (p.Ile4368Val)
|
|
|
NM_031935.3(HMCN1):c.13103T>A (p.Ile4368Asn)
|
|
|
NM_031935.3(HMCN1):c.1310A>G (p.Glu437Gly)
|
|
|
NM_031935.3(HMCN1):c.13146G>C (p.Gln4382His)
|
|
|
NM_031935.3(HMCN1):c.13169T>C (p.Ile4390Thr)
|
|
|
NM_031935.3(HMCN1):c.13187T>C (p.Ile4396Thr)
|
|
|
NM_031935.3(HMCN1):c.13209C>T (p.Ser4403=)
|
|
|
NM_031935.3(HMCN1):c.1320A>G (p.Pro440=)
|
|
|
NM_031935.3(HMCN1):c.13227T>C (p.Thr4409=)
|
|
|
NM_031935.3(HMCN1):c.1322G>A (p.Gly441Glu)
|
|
|
NM_031935.3(HMCN1):c.13230+7C>T
|
|
|
NM_031935.3(HMCN1):c.13231-14del
|
|
|
NM_031935.3(HMCN1):c.13231-17G>T
|
|
|
NM_031935.3(HMCN1):c.13233T>C (p.Asn4411=)
|
|
|
NM_031935.3(HMCN1):c.1323A>G (p.Gly441=)
|
|
|
NM_031935.3(HMCN1):c.13241C>T (p.Ala4414Val)
|
|
|
NM_031935.3(HMCN1):c.13243G>A (p.Gly4415Ser)
|
|
|
NM_031935.3(HMCN1):c.13248C>A (p.Asp4416Glu)
|
rs1000886295
|
|
NM_031935.3(HMCN1):c.13268A>G (p.Asn4423Ser)
|
|
|
NM_031935.3(HMCN1):c.13271A>G (p.Glu4424Gly)
|
|
|
NM_031935.3(HMCN1):c.13274C>T (p.Ala4425Val)
|
|
|
NM_031935.3(HMCN1):c.13278G>A (p.Gly4426=)
|
|
|
NM_031935.3(HMCN1):c.13289G>A (p.Arg4430His)
|
|
|
NM_031935.3(HMCN1):c.13313-14G>A
|
|
|
NM_031935.3(HMCN1):c.13313-1G>A
|
|
|
NM_031935.3(HMCN1):c.13335G>A (p.Glu4445=)
|
|
|
NM_031935.3(HMCN1):c.13346C>T (p.Thr4449Ile)
|
rs758752400
|
|
NM_031935.3(HMCN1):c.13347T>A (p.Thr4449=)
|
|
|
NM_031935.3(HMCN1):c.13375T>C (p.Leu4459=)
|
|
|
NM_031935.3(HMCN1):c.13375T>G (p.Leu4459Val)
|
|
|
NM_031935.3(HMCN1):c.1337C>A (p.Pro446Gln)
|
|
|
NM_031935.3(HMCN1):c.1337C>T (p.Pro446Leu)
|
|
|
NM_031935.3(HMCN1):c.13386G>A (p.Gln4462=)
|
|
|
NM_031935.3(HMCN1):c.13407A>G (p.Pro4469=)
|
|
|
NM_031935.3(HMCN1):c.13416A>G (p.Thr4472=)
|
|
|
NM_031935.3(HMCN1):c.13423C>T (p.Arg4475Cys)
|
|
|
NM_031935.3(HMCN1):c.13424G>A (p.Arg4475His)
|
|
|
NM_031935.3(HMCN1):c.13430G>A (p.Gly4477Glu)
|
|
|
NM_031935.3(HMCN1):c.13434C>T (p.His4478=)
|
|
|
NM_031935.3(HMCN1):c.13435T>G (p.Ser4479Ala)
|
|
|
NM_031935.3(HMCN1):c.13441_13442delinsAA (p.Ser4481Asn)
|
rs2102533542
|
|
NM_031935.3(HMCN1):c.13444T>G (p.Trp4482Gly)
|
|
|
NM_031935.3(HMCN1):c.13447G>A (p.Asp4483Asn)
|
|
|
NM_031935.3(HMCN1):c.13453C>T (p.Arg4485Trp)
|
|
|
NM_031935.3(HMCN1):c.13454G>A (p.Arg4485Gln)
|
|
|
NM_031935.3(HMCN1):c.13455G>A (p.Arg4485=)
|
|
|
NM_031935.3(HMCN1):c.13461C>G (p.Asn4487Lys)
|
|
|
NM_031935.3(HMCN1):c.13486A>G (p.Ile4496Val)
|
|
|
NM_031935.3(HMCN1):c.13500G>C (p.Gln4500His)
|
|
|
NM_031935.3(HMCN1):c.13512C>T (p.Thr4504=)
|
rs1253360365
|
|
NM_031935.3(HMCN1):c.13525T>C (p.Cys4509Arg)
|
rs2102533769
|
|
NM_031935.3(HMCN1):c.13528G>A (p.Val4510Ile)
|
|
|
NM_031935.3(HMCN1):c.13534C>T (p.Arg4512Ter)
|
|
|
NM_031935.3(HMCN1):c.13535G>A (p.Arg4512Gln)
|
|
|
NM_031935.3(HMCN1):c.13542A>G (p.Leu4514=)
|
rs2102533848
|
|
NM_031935.3(HMCN1):c.1354T>C (p.Ser452Pro)
|
|
|
NM_031935.3(HMCN1):c.13554C>A (p.Val4518=)
|
|
|
NM_031935.3(HMCN1):c.1355C>G (p.Ser452Cys)
|
|
|
NM_031935.3(HMCN1):c.13582+5G>A
|
|
|
NM_031935.3(HMCN1):c.13583-15A>G
|
|
|
NM_031935.3(HMCN1):c.13589G>A (p.Gly4530Asp)
|
|
|
NM_031935.3(HMCN1):c.1359T>G (p.Val453=)
|
|
|
NM_031935.3(HMCN1):c.13601A>T (p.Gln4534Leu)
|
|
|
NM_031935.3(HMCN1):c.13618G>A (p.Ala4540Thr)
|
|
|
NM_031935.3(HMCN1):c.13621T>C (p.Cys4541Arg)
|
|
|
NM_031935.3(HMCN1):c.13626T>C (p.Ser4542=)
|
|
|
NM_031935.3(HMCN1):c.13631C>A (p.Thr4544Asn)
|
|
|
NM_031935.3(HMCN1):c.1363A>G (p.Ser455Gly)
|
|
|
NM_031935.3(HMCN1):c.13642G>A (p.Gly4548Ser)
|
|
|
NM_031935.3(HMCN1):c.13659T>C (p.Ser4553=)
|
|
|
NM_031935.3(HMCN1):c.13661G>A (p.Arg4554His)
|
|
|
NM_031935.3(HMCN1):c.13669A>G (p.Asn4557Asp)
|
|
|
NM_031935.3(HMCN1):c.1367T>C (p.Leu456Pro)
|
|
|
NM_031935.3(HMCN1):c.13681C>G (p.Pro4561Ala)
|
|
|
NM_031935.3(HMCN1):c.13686C>G (p.Ala4562=)
|
|
|
NM_031935.3(HMCN1):c.13689T>C (p.Asn4563=)
|
|
|
NM_031935.3(HMCN1):c.13695G>A (p.Gly4565=)
|
|
|
NM_031935.3(HMCN1):c.13695G>C (p.Gly4565=)
|
rs944831596
|
|
NM_031935.3(HMCN1):c.13707A>C (p.Gln4569His)
|
|
|
NM_031935.3(HMCN1):c.13726C>G (p.Arg4576Gly)
|
|
|
NM_031935.3(HMCN1):c.13726C>T (p.Arg4576Ter)
|
|
|
NM_031935.3(HMCN1):c.13727G>A (p.Arg4576Gln)
|
|
|
NM_031935.3(HMCN1):c.13736A>C (p.Gln4579Pro)
|
|
|
NM_031935.3(HMCN1):c.13747T>C (p.Cys4583Arg)
|
|
|
NM_031935.3(HMCN1):c.13753+10C>T
|
|
|
NM_031935.3(HMCN1):c.13754-19A>C
|
|
|
NM_031935.3(HMCN1):c.13754-2A>G
|
|
|
NM_031935.3(HMCN1):c.13769C>T (p.Ser4590Leu)
|
|
|
NM_031935.3(HMCN1):c.13797A>G (p.Thr4599=)
|
|
|
NM_031935.3(HMCN1):c.13800G>A (p.Arg4600=)
|
|
|
NM_031935.3(HMCN1):c.13810C>T (p.Arg4604Cys)
|
|
|
NM_031935.3(HMCN1):c.13811G>A (p.Arg4604His)
|
|
|
NM_031935.3(HMCN1):c.13812C>T (p.Arg4604=)
|
|
|
NM_031935.3(HMCN1):c.13813G>A (p.Gly4605Ser)
|
|
|
NM_031935.3(HMCN1):c.13828A>G (p.Thr4610Ala)
|
|
|
NM_031935.3(HMCN1):c.13858C>T (p.His4620Tyr)
|
|
|
NM_031935.3(HMCN1):c.13862G>A (p.Gly4621Asp)
|
|
|
NM_031935.3(HMCN1):c.13867C>T (p.Arg4623Trp)
|
|
|
NM_031935.3(HMCN1):c.13881G>A (p.Gly4627=)
|
|
|
NM_031935.3(HMCN1):c.13881G>C (p.Gly4627=)
|
|
|
NM_031935.3(HMCN1):c.13882A>G (p.Asn4628Asp)
|
rs2102537023
|
|
NM_031935.3(HMCN1):c.13885G>A (p.Ala4629Thr)
|
|
|
NM_031935.3(HMCN1):c.13889T>C (p.Val4630Ala)
|
|
|
NM_031935.3(HMCN1):c.13908C>T (p.Asn4636=)
|
|
|
NM_031935.3(HMCN1):c.13921C>G (p.Pro4641Ala)
|
|
|
NM_031935.3(HMCN1):c.13925-18C>G
|
|
|
NM_031935.3(HMCN1):c.1392C>T (p.Val464=)
|
|
|
NM_031935.3(HMCN1):c.13930G>A (p.Gly4644Arg)
|
|
|
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
|
|
|
NM_031935.3(HMCN1):c.13940G>A (p.Ser4647Asn)
|
rs1650139224
|
|
NM_031935.3(HMCN1):c.13941C>T (p.Ser4647=)
|
|
|
NM_031935.3(HMCN1):c.13942G>A (p.Ala4648Thr)
|
|
|
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser)
|
rs367723447
|
|
NM_031935.3(HMCN1):c.1394G>A (p.Arg465Lys)
|
|
|
NM_031935.3(HMCN1):c.13958G>A (p.Gly4653Glu)
|
|
|
NM_031935.3(HMCN1):c.13969G>A (p.Glu4657Lys)
|
|
|
NM_031935.3(HMCN1):c.1396A>T (p.Asn466Tyr)
|
rs2102481097
|
|
NM_031935.3(HMCN1):c.13979G>A (p.Gly4660Glu)
|
|
|
NM_031935.3(HMCN1):c.14016C>A (p.Asn4672Lys)
|
|
|
NM_031935.3(HMCN1):c.14016C>G (p.Asn4672Lys)
|
|
|
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
|
|
|
NM_031935.3(HMCN1):c.14026G>T (p.Ala4676Ser)
|
|
|
NM_031935.3(HMCN1):c.1402G>A (p.Val468Ile)
|
|
|
NM_031935.3(HMCN1):c.14051G>C (p.Gly4684Ala)
|
|
|
NM_031935.3(HMCN1):c.14054C>T (p.Ala4685Val)
|
rs1650146890
|
|
NM_031935.3(HMCN1):c.14066T>C (p.Met4689Thr)
|
|
|
NM_031935.3(HMCN1):c.1407A>G (p.Thr469=)
|
|
|
NM_031935.3(HMCN1):c.14088T>C (p.Asn4696=)
|
|
|
NM_031935.3(HMCN1):c.14095+15_14095+16del
|
rs1650151052
|
|
NM_031935.3(HMCN1):c.14095+3A>G
|
|
|
NM_031935.3(HMCN1):c.14096-18C>G
|
|
|
NM_031935.3(HMCN1):c.14096-4C>G
|
|
|
NM_031935.3(HMCN1):c.14099A>G (p.His4700Arg)
|
|
|
NM_031935.3(HMCN1):c.14112G>A (p.Ala4704=)
|
|
|
NM_031935.3(HMCN1):c.14113A>G (p.Thr4705Ala)
|
rs1315645100
|
|
NM_031935.3(HMCN1):c.14114C>A (p.Thr4705Asn)
|
|
|
NM_031935.3(HMCN1):c.1411G>A (p.Gly471Arg)
|
|
|
NM_031935.3(HMCN1):c.14123G>C (p.Ser4708Thr)
|
|
|
NM_031935.3(HMCN1):c.14128A>G (p.Ser4710Gly)
|
|
|
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
|
|
|
NM_031935.3(HMCN1):c.14134T>C (p.Cys4712Arg)
|
|
|
NM_031935.3(HMCN1):c.1415T>C (p.Val472Ala)
|
|
|
NM_031935.3(HMCN1):c.1415T>G (p.Val472Gly)
|
|
|
NM_031935.3(HMCN1):c.14160C>T (p.Ala4720=)
|
|
|
NM_031935.3(HMCN1):c.14162G>C (p.Arg4721Thr)
|
|
|
NM_031935.3(HMCN1):c.14168_14169del (p.Arg4723fs)
|
|
|
NM_031935.3(HMCN1):c.14177G>A (p.Gly4726Asp)
|
|
|
NM_031935.3(HMCN1):c.14183C>T (p.Ser4728Phe)
|
rs1650196834
|
|
NM_031935.3(HMCN1):c.14184C>T (p.Ser4728=)
|
|
|
NM_031935.3(HMCN1):c.14195C>A (p.Pro4732His)
|
|
|
NM_031935.3(HMCN1):c.14196C>A (p.Pro4732=)
|
|
|
NM_031935.3(HMCN1):c.14199G>A (p.Gln4733=)
|
|
|
NM_031935.3(HMCN1):c.14209A>G (p.Arg4737Gly)
|
|
|
NM_031935.3(HMCN1):c.14217C>T (p.Cys4739=)
|
|
|
NM_031935.3(HMCN1):c.14218G>A (p.Glu4740Lys)
|
|
|
NM_031935.3(HMCN1):c.14221G>A (p.Gly4741Arg)
|
|
|
NM_031935.3(HMCN1):c.14236A>G (p.Ser4746Gly)
|
|
|
NM_031935.3(HMCN1):c.14237G>A (p.Ser4746Asn)
|
|
|
NM_031935.3(HMCN1):c.14249A>G (p.Asn4750Ser)
|
|
|
NM_031935.3(HMCN1):c.14266+19_14266+22del
|
rs770465309
|
|
NM_031935.3(HMCN1):c.14266+7_14266+22del
|
|
|
NM_031935.3(HMCN1):c.1430+10T>C
|
|
|
NM_031935.3(HMCN1):c.1430+16T>C
|
|
|
NM_031935.3(HMCN1):c.1430+20A>G
|
|
|
NM_031935.3(HMCN1):c.1431-18C>T
|
|
|
NM_031935.3(HMCN1):c.14312G>A (p.Arg4771Gln)
|
|
|
NM_031935.3(HMCN1):c.14316G>A (p.Thr4772=)
|
|
|
NM_031935.3(HMCN1):c.14316G>C (p.Thr4772=)
|
|
|
NM_031935.3(HMCN1):c.14318G>A (p.Cys4773Tyr)
|
|
|
NM_031935.3(HMCN1):c.14328G>A (p.Gly4776=)
|
|
|
NM_031935.3(HMCN1):c.14338C>T (p.Arg4780Trp)
|
|
|
NM_031935.3(HMCN1):c.14340G>T (p.Arg4780=)
|
|
|
NM_031935.3(HMCN1):c.14345G>A (p.Arg4782His)
|
|
|
NM_031935.3(HMCN1):c.1434A>G (p.Glu478=)
|
|
|
NM_031935.3(HMCN1):c.14362C>G (p.Pro4788Ala)
|
|
|
NM_031935.3(HMCN1):c.14364T>C (p.Pro4788=)
|
|
|
NM_031935.3(HMCN1):c.14371A>G (p.Asn4791Asp)
|
|
|
NM_031935.3(HMCN1):c.14373T>C (p.Asn4791=)
|
|
|
NM_031935.3(HMCN1):c.14397A>C (p.Pro4799=)
|
|
|
NM_031935.3(HMCN1):c.14416T>C (p.Cys4806Arg)
|
|
|
NM_031935.3(HMCN1):c.14420A>T (p.Asn4807Ile)
|
|
|
NM_031935.3(HMCN1):c.14428A>G (p.Met4810Val)
|
|
|
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
|
|
|
NM_031935.3(HMCN1):c.14437+20G>C
|
|
|
NM_031935.3(HMCN1):c.14437+3G>A
|
|
|
NM_031935.3(HMCN1):c.14437+7C>G
|
|
|
NM_031935.3(HMCN1):c.14438-2A>G
|
|
|
NM_031935.3(HMCN1):c.14438-3C>T
|
|
|
NM_031935.3(HMCN1):c.1443T>C (p.Ser481=)
|
|
|
NM_031935.3(HMCN1):c.14452G>A (p.Gly4818Arg)
|
|
|
NM_031935.3(HMCN1):c.14456G>C (p.Ser4819Thr)
|
|
|
NM_031935.3(HMCN1):c.14467T>C (p.Trp4823Arg)
|
rs2102558306
|
|
NM_031935.3(HMCN1):c.14478C>T (p.Cys4826=)
|
|
|
NM_031935.3(HMCN1):c.14502A>G (p.Glu4834=)
|
|
|
NM_031935.3(HMCN1):c.14509C>T (p.Arg4837Trp)
|
|
|
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
|
|
|
NM_031935.3(HMCN1):c.14523C>T (p.Cys4841=)
|
|
|
NM_031935.3(HMCN1):c.14524G>A (p.Asp4842Asn)
|
|
|
NM_031935.3(HMCN1):c.14533G>C (p.Val4845Leu)
|
|
|
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
|
|
|
NM_031935.3(HMCN1):c.14551C>T (p.Arg4851Cys)
|
|
|
NM_031935.3(HMCN1):c.14552G>A (p.Arg4851His)
|
|
|
NM_031935.3(HMCN1):c.14563G>A (p.Gly4855Arg)
|
|
|
NM_031935.3(HMCN1):c.14570C>A (p.Thr4857Asn)
|
|
|
NM_031935.3(HMCN1):c.1457T>C (p.Ile486Thr)
|
|
|
NM_031935.3(HMCN1):c.14583C>T (p.Thr4861=)
|
|
|
NM_031935.3(HMCN1):c.14588G>A (p.Cys4863Tyr)
|
|
|
NM_031935.3(HMCN1):c.14597A>T (p.Gln4866Leu)
|
|
|
NM_031935.3(HMCN1):c.14598A>G (p.Gln4866=)
|
|
|
NM_031935.3(HMCN1):c.14608+9C>G
|
|
|
NM_031935.3(HMCN1):c.14609-11del
|
rs553881045
|
|
NM_031935.3(HMCN1):c.14609-11dup
|
rs553881045
|
|
NM_031935.3(HMCN1):c.14609-13T>G
|
|
|
NM_031935.3(HMCN1):c.14609-16T>C
|
|
|
NM_031935.3(HMCN1):c.14609-19T>C
|
|
|
NM_031935.3(HMCN1):c.14609-19T>G
|
|
|
NM_031935.3(HMCN1):c.14609-6dup
|
rs759638529
|
|
NM_031935.3(HMCN1):c.14609-7C>G
|
|
|
NM_031935.3(HMCN1):c.14609-8C>T
|
|
|
NM_031935.3(HMCN1):c.14615C>T (p.Pro4872Leu)
|
|
|
NM_031935.3(HMCN1):c.14616C>A (p.Pro4872=)
|
rs2102573631
|
|
NM_031935.3(HMCN1):c.14625C>T (p.Ala4875=)
|
|
|
NM_031935.3(HMCN1):c.1464G>T (p.Lys488Asn)
|
|
|
NM_031935.3(HMCN1):c.14672C>T (p.Ala4891Val)
|
rs2102573780
|
|
NM_031935.3(HMCN1):c.1468A>G (p.Thr490Ala)
|
|
|
NM_031935.3(HMCN1):c.14695G>A (p.Asp4899Asn)
|
|
|
NM_031935.3(HMCN1):c.14701C>G (p.Pro4901Ala)
|
rs920826770
|
|
NM_031935.3(HMCN1):c.14701C>T (p.Pro4901Ser)
|
|
|
NM_031935.3(HMCN1):c.14709T>G (p.Ser4903=)
|
|
|
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn)
|
rs138232561
|
|
NM_031935.3(HMCN1):c.14742T>C (p.Asn4914=)
|
|
|
NM_031935.3(HMCN1):c.14743G>A (p.Val4915Ile)
|
|
|
NM_031935.3(HMCN1):c.14758+15dup
|
rs930917760
|
|
NM_031935.3(HMCN1):c.14758+3_14758+6del
|
|
|
NM_031935.3(HMCN1):c.14759-14T>C
|
|
|
NM_031935.3(HMCN1):c.14759-19T>C
|
|
|
NM_031935.3(HMCN1):c.14759-3T>C
|
|
|
NM_031935.3(HMCN1):c.14759-7del
|
rs756561243
|
|
NM_031935.3(HMCN1):c.14759-7dup
|
rs756561243
|
|
NM_031935.3(HMCN1):c.14759G>A (p.Gly4920Asp)
|
|
|
NM_031935.3(HMCN1):c.14767A>G (p.Met4923Val)
|
|
|
NM_031935.3(HMCN1):c.14777_14778del (p.Ile4926fs)
|
|
|
NM_031935.3(HMCN1):c.14784T>C (p.Ser4928=)
|
|
|
NM_031935.3(HMCN1):c.14792A>G (p.Asn4931Ser)
|
|
|
NM_031935.3(HMCN1):c.14796C>T (p.Pro4932=)
|
|
|
NM_031935.3(HMCN1):c.1480G>T (p.Glu494Ter)
|
|
|
NM_031935.3(HMCN1):c.14825G>T (p.Gly4942Val)
|
rs1327769785
|
|
NM_031935.3(HMCN1):c.14853C>T (p.Thr4951=)
|
rs1650674909
|
|
NM_031935.3(HMCN1):c.14859A>G (p.Ala4953=)
|
|
|
NM_031935.3(HMCN1):c.14872G>A (p.Glu4958Lys)
|
|
|
NM_031935.3(HMCN1):c.14896+7G>A
|
|
|
NM_031935.3(HMCN1):c.14897-11G>A
|
|
|
NM_031935.3(HMCN1):c.14897-3del
|
|
|
NM_031935.3(HMCN1):c.14897-5C>A
|
|
|
NM_031935.3(HMCN1):c.14897-8del
|
|
|
NM_031935.3(HMCN1):c.14911A>C (p.Met4971Leu)
|
|
|
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
|
|
|
NM_031935.3(HMCN1):c.14931C>T (p.Gly4977=)
|
|
|
NM_031935.3(HMCN1):c.14938T>C (p.Ser4980Pro)
|
|
|
NM_031935.3(HMCN1):c.14940C>T (p.Ser4980=)
|
|
|
NM_031935.3(HMCN1):c.14941G>A (p.Asp4981Asn)
|
|
|
NM_031935.3(HMCN1):c.14941G>T (p.Asp4981Tyr)
|
|
|
NM_031935.3(HMCN1):c.14944G>A (p.Gly4982Ser)
|
|
|
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
|
|
|
NM_031935.3(HMCN1):c.14965G>A (p.Val4989Ile)
|
|
|
NM_031935.3(HMCN1):c.14978A>G (p.Tyr4993Cys)
|
|
|
NM_031935.3(HMCN1):c.15019-15C>T
|
|
|
NM_031935.3(HMCN1):c.15019G>A (p.Asp5007Asn)
|
|
|
NM_031935.3(HMCN1):c.15026C>G (p.Thr5009Arg)
|
rs775634198
|
|
NM_031935.3(HMCN1):c.15039T>G (p.Ile5013Met)
|
|
|
NM_031935.3(HMCN1):c.1503T>C (p.Ala501=)
|
|
|
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala)
|
rs767233028
|
|
NM_031935.3(HMCN1):c.15049C>G (p.Pro5017Ala)
|
|
|
NM_031935.3(HMCN1):c.15069C>T (p.Tyr5023=)
|
|
|
NM_031935.3(HMCN1):c.15101del (p.Ser5034fs)
|
|
|
NM_031935.3(HMCN1):c.15126C>T (p.Thr5042=)
|
|
|
NM_031935.3(HMCN1):c.15129T>C (p.Val5043=)
|
|
|
NM_031935.3(HMCN1):c.15139C>A (p.Gln5047Lys)
|
|
|
NM_031935.3(HMCN1):c.15148G>A (p.Gly5050Arg)
|
|
|
NM_031935.3(HMCN1):c.15149G>A (p.Gly5050Glu)
|
|
|
NM_031935.3(HMCN1):c.15189T>G (p.Ser5063=)
|
rs978134981
|
|
NM_031935.3(HMCN1):c.15194A>G (p.Glu5065Gly)
|
|
|
NM_031935.3(HMCN1):c.15199G>T (p.Asp5067Tyr)
|
|
|
NM_031935.3(HMCN1):c.15238C>T (p.His5080Tyr)
|
|
|
NM_031935.3(HMCN1):c.15240T>C (p.His5080=)
|
|
|
NM_031935.3(HMCN1):c.15256+15G>C
|
|
|
NM_031935.3(HMCN1):c.15256+1G>T
|
|
|
NM_031935.3(HMCN1):c.15256+5T>A
|
|
|
NM_031935.3(HMCN1):c.15256+7dup
|
|
|
NM_031935.3(HMCN1):c.15257G>A (p.Gly5086Glu)
|
|
|
NM_031935.3(HMCN1):c.15258A>T (p.Gly5086=)
|
|
|
NM_031935.3(HMCN1):c.15262C>T (p.Arg5088Cys)
|
|
|
NM_031935.3(HMCN1):c.15263G>A (p.Arg5088His)
|
|
|
NM_031935.3(HMCN1):c.15265A>G (p.Ser5089Gly)
|
|
|
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys)
|
rs749090856
|
|
NM_031935.3(HMCN1):c.1526G>A (p.Arg509Gln)
|
|
|
NM_031935.3(HMCN1):c.15272A>G (p.Gln5091Arg)
|
|
|
NM_031935.3(HMCN1):c.15274T>C (p.Cys5092Arg)
|
|
|
NM_031935.3(HMCN1):c.15277C>T (p.Pro5093Ser)
|
|
|
NM_031935.3(HMCN1):c.1527G>A (p.Arg509=)
|
|
|
NM_031935.3(HMCN1):c.1527G>C (p.Arg509=)
|
|
|
NM_031935.3(HMCN1):c.15288T>C (p.Phe5096=)
|
|
|
NM_031935.3(HMCN1):c.1528G>A (p.Ala510Thr)
|
|
|
NM_031935.3(HMCN1):c.15290C>A (p.Thr5097Asn)
|
|
|
NM_031935.3(HMCN1):c.15300A>G (p.Ser5100=)
|
|
|
NM_031935.3(HMCN1):c.15302T>C (p.Val5101Ala)
|
|
|
NM_031935.3(HMCN1):c.15320-11dup
|
rs774592777
|
|
NM_031935.3(HMCN1):c.15320-12T>C
|
|
|
NM_031935.3(HMCN1):c.15320-8T>C
|
|
|
NM_031935.3(HMCN1):c.15329A>C (p.Glu5110Ala)
|
|
|
NM_031935.3(HMCN1):c.15330A>G (p.Glu5110=)
|
|
|
NM_031935.3(HMCN1):c.15335C>A (p.Ala5112Glu)
|
|
|
NM_031935.3(HMCN1):c.1535C>T (p.Thr512Ile)
|
|
|
NM_031935.3(HMCN1):c.15364C>T (p.His5122Tyr)
|
|
|
NM_031935.3(HMCN1):c.15365A>G (p.His5122Arg)
|
|
|
NM_031935.3(HMCN1):c.1536A>G (p.Thr512=)
|
|
|
NM_031935.3(HMCN1):c.15380C>A (p.Thr5127Asn)
|
|
|
NM_031935.3(HMCN1):c.15387C>T (p.Tyr5129=)
|
|
|
NM_031935.3(HMCN1):c.15390C>T (p.Cys5130=)
|
|
|
NM_031935.3(HMCN1):c.15392C>T (p.Ser5131Phe)
|
|
|
NM_031935.3(HMCN1):c.15410C>T (p.Thr5137Ile)
|
|
|
NM_031935.3(HMCN1):c.15439+7A>C
|
|
|
NM_031935.3(HMCN1):c.15440-11C>T
|
|
|
NM_031935.3(HMCN1):c.15440A>G (p.Asp5147Gly)
|
|
|
NM_031935.3(HMCN1):c.15449A>G (p.Glu5150Gly)
|
|
|
NM_031935.3(HMCN1):c.15470C>T (p.Thr5157Ile)
|
|
|
NM_031935.3(HMCN1):c.15477C>T (p.His5159=)
|
|
|
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
|
|
|
NM_031935.3(HMCN1):c.15496A>G (p.Asn5166Asp)
|
|
|
NM_031935.3(HMCN1):c.15502A>G (p.Ile5168Val)
|
|
|
NM_031935.3(HMCN1):c.15505G>A (p.Gly5169Arg)
|
|
|
NM_031935.3(HMCN1):c.15514C>T (p.Arg5172Cys)
|
|
|
NM_031935.3(HMCN1):c.1552+9del
|
|
|
NM_031935.3(HMCN1):c.15524T>G (p.Val5175Gly)
|
|
|
NM_031935.3(HMCN1):c.15526C>T (p.Arg5176Cys)
|
|
|
NM_031935.3(HMCN1):c.15527G>T (p.Arg5176Leu)
|
rs150494959
|
|
NM_031935.3(HMCN1):c.1553-20A>C
|
|
|
NM_031935.3(HMCN1):c.1553-7C>G
|
|
|
NM_031935.3(HMCN1):c.15541T>C (p.Phe5181Leu)
|
|
|
NM_031935.3(HMCN1):c.15544C>T (p.Arg5182Ter)
|
|
|
NM_031935.3(HMCN1):c.15545G>A (p.Arg5182Gln)
|
|
|
NM_031935.3(HMCN1):c.15545G>T (p.Arg5182Leu)
|
|
|
NM_031935.3(HMCN1):c.15551C>T (p.Thr5184Ile)
|
|
|
NM_031935.3(HMCN1):c.15556G>A (p.Asp5186Asn)
|
|
|
NM_031935.3(HMCN1):c.1555C>T (p.Pro519Ser)
|
|
|
NM_031935.3(HMCN1):c.15566G>A (p.Ser5189Asn)
|
|
|
NM_031935.3(HMCN1):c.15574+16C>A
|
|
|
NM_031935.3(HMCN1):c.15574+20T>C
|
|
|
NM_031935.3(HMCN1):c.15574+4T>A
|
|
|
NM_031935.3(HMCN1):c.15574+4T>C
|
|
|
NM_031935.3(HMCN1):c.15574+7A>C
|
|
|
NM_031935.3(HMCN1):c.15574+8A>G
|
|
|
NM_031935.3(HMCN1):c.15575-19G>A
|
rs960957594
|
|
NM_031935.3(HMCN1):c.15575-1G>T
|
|
|
NM_031935.3(HMCN1):c.15575-20A>C
|
|
|
NM_031935.3(HMCN1):c.15577A>G (p.Ile5193Val)
|
|
|
NM_031935.3(HMCN1):c.15603C>T (p.Pro5201=)
|
|
|
NM_031935.3(HMCN1):c.15634A>T (p.Ser5212Cys)
|
|
|
NM_031935.3(HMCN1):c.15645T>C (p.Cys5215=)
|
|
|
NM_031935.3(HMCN1):c.15664C>T (p.Gln5222Ter)
|
|
|
NM_031935.3(HMCN1):c.15669C>G (p.Leu5223=)
|
rs1571459156
|
|
NM_031935.3(HMCN1):c.15684C>T (p.Cys5228=)
|
|
|
NM_031935.3(HMCN1):c.15689-10T>C
|
|
|
NM_031935.3(HMCN1):c.1568T>C (p.Ile523Thr)
|
|
|
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
|
|
|
NM_031935.3(HMCN1):c.15696C>T (p.Asn5232=)
|
|
|
NM_031935.3(HMCN1):c.15697G>A (p.Glu5233Lys)
|
|
|
NM_031935.3(HMCN1):c.15699G>C (p.Glu5233Asp)
|
|
|
NM_031935.3(HMCN1):c.15710A>T (p.Asn5237Ile)
|
|
|
NM_031935.3(HMCN1):c.15712G>A (p.Val5238Ile)
|
|
|
NM_031935.3(HMCN1):c.15718A>G (p.Arg5240Gly)
|
|
|
NM_031935.3(HMCN1):c.15724G>T (p.Asp5242Tyr)
|
|
|
NM_031935.3(HMCN1):c.15725A>G (p.Asp5242Gly)
|
|
|
NM_031935.3(HMCN1):c.15745C>T (p.Arg5249Cys)
|
|
|
NM_031935.3(HMCN1):c.15754T>C (p.Tyr5252His)
|
rs1652266749
|
|
NM_031935.3(HMCN1):c.15763A>C (p.Ile5255Leu)
|
|
|
NM_031935.3(HMCN1):c.1576C>T (p.Pro526Ser)
|
|
|
NM_031935.3(HMCN1):c.15775C>G (p.Pro5259Ala)
|
|
|
NM_031935.3(HMCN1):c.15778A>G (p.Asn5260Asp)
|
|
|
NM_031935.3(HMCN1):c.15799A>G (p.Asn5267Asp)
|
|
|
NM_031935.3(HMCN1):c.15803G>A (p.Gly5268Glu)
|
|
|
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
|
|
|
NM_031935.3(HMCN1):c.15811A>G (p.Ile5271Val)
|
|
|
NM_031935.3(HMCN1):c.15815-20C>T
|
|
|
NM_031935.3(HMCN1):c.15815-4G>A
|
|
|
NM_031935.3(HMCN1):c.15828T>C (p.Cys5276=)
|
|
|
NM_031935.3(HMCN1):c.1582A>G (p.Asn528Asp)
|
|
|
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=)
|
rs538516291
|
|
NM_031935.3(HMCN1):c.15859C>A (p.Gln5287Lys)
|
|
|
NM_031935.3(HMCN1):c.15868G>A (p.Glu5290Lys)
|
|
|
NM_031935.3(HMCN1):c.15885C>T (p.Ser5295=)
|
|
|
NM_031935.3(HMCN1):c.15889C>T (p.Arg5297Cys)
|
|
|
NM_031935.3(HMCN1):c.1588A>G (p.Thr530Ala)
|
|
|
NM_031935.3(HMCN1):c.15890G>A (p.Arg5297His)
|
|
|
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
|
|
|
NM_031935.3(HMCN1):c.1589C>G (p.Thr530Arg)
|
rs189951644
|
|
NM_031935.3(HMCN1):c.15904A>G (p.Arg5302Gly)
|
|
|
NM_031935.3(HMCN1):c.15913C>T (p.Arg5305Trp)
|
|
|
NM_031935.3(HMCN1):c.15936C>T (p.Pro5312=)
|
|
|
NM_031935.3(HMCN1):c.15940A>C (p.Met5314Leu)
|
|
|
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
|
|
|
NM_031935.3(HMCN1):c.15943+19G>A
|
|
|
NM_031935.3(HMCN1):c.15943+1G>T
|
rs377293468
|
|
NM_031935.3(HMCN1):c.15944-14T>C
|
|
|
NM_031935.3(HMCN1):c.15944-16C>T
|
|
|
NM_031935.3(HMCN1):c.15944-4G>A
|
|
|
NM_031935.3(HMCN1):c.15944-6G>A
|
|
|
NM_031935.3(HMCN1):c.1597C>T (p.Pro533Ser)
|
|
|
NM_031935.3(HMCN1):c.15983A>G (p.His5328Arg)
|
|
|
NM_031935.3(HMCN1):c.15996C>T (p.Asn5332=)
|
|
|
NM_031935.3(HMCN1):c.15998C>A (p.Thr5333Asn)
|
|
|
NM_031935.3(HMCN1):c.15998C>T (p.Thr5333Ile)
|
|
|
NM_031935.3(HMCN1):c.16003G>A (p.Gly5335Ser)
|
|
|
NM_031935.3(HMCN1):c.16010T>G (p.Phe5337Cys)
|
rs2102655079
|
|
NM_031935.3(HMCN1):c.16027C>T (p.Pro5343Ser)
|
|
|
NM_031935.3(HMCN1):c.16028C>A (p.Pro5343Gln)
|
rs1558285041
|
|
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del)
|
rs780673178
|
|
NM_031935.3(HMCN1):c.16039T>C (p.Leu5347=)
|
|
|
NM_031935.3(HMCN1):c.16047G>T (p.Gly5349=)
|
|
|
NM_031935.3(HMCN1):c.16051G>A (p.Gly5351Arg)
|
|
|
NM_031935.3(HMCN1):c.1605G>A (p.Glu535=)
|
rs1667663391
|
|
NM_031935.3(HMCN1):c.16062C>T (p.Cys5354=)
|
|
|
NM_031935.3(HMCN1):c.16063G>C (p.Ala5355Pro)
|
rs775803858
|
|
NM_031935.3(HMCN1):c.16077G>C (p.Arg5359Ser)
|
|
|
NM_031935.3(HMCN1):c.1607G>A (p.Arg536Lys)
|
|
|
NM_031935.3(HMCN1):c.1607G>C (p.Arg536Thr)
|
|
|
NM_031935.3(HMCN1):c.16094C>T (p.Thr5365Ile)
|
|
|
NM_031935.3(HMCN1):c.16095T>A (p.Thr5365=)
|
|
|
NM_031935.3(HMCN1):c.16100A>G (p.Tyr5367Cys)
|
|
|
NM_031935.3(HMCN1):c.16101C>T (p.Tyr5367=)
|
|
|
NM_031935.3(HMCN1):c.16114C>T (p.Leu5372Phe)
|
|
|
NM_031935.3(HMCN1):c.16118C>T (p.Ala5373Val)
|
|
|
NM_031935.3(HMCN1):c.16120C>T (p.Arg5374Trp)
|
|
|
NM_031935.3(HMCN1):c.16125C>T (p.Phe5375=)
|
|
|
NM_031935.3(HMCN1):c.16132G>A (p.Val5378Met)
|
|
|
NM_031935.3(HMCN1):c.16142A>G (p.Asn5381Ser)
|
|
|
NM_031935.3(HMCN1):c.16143C>T (p.Asn5381=)
|
rs1652746737
|
|
NM_031935.3(HMCN1):c.16157A>G (p.Gln5386Arg)
|
|
|
NM_031935.3(HMCN1):c.16173C>G (p.Tyr5391Ter)
|
|
|
NM_031935.3(HMCN1):c.16178A>T (p.His5393Leu)
|
|
|
NM_031935.3(HMCN1):c.16193A>C (p.Tyr5398Ser)
|
|
|
NM_031935.3(HMCN1):c.16195T>G (p.Ser5399Ala)
|
|
|
NM_031935.3(HMCN1):c.16208A>G (p.Asn5403Ser)
|
|
|
NM_031935.3(HMCN1):c.16213A>G (p.Arg5405Gly)
|
|
|
NM_031935.3(HMCN1):c.16226C>T (p.Ser5409Phe)
|
|
|
NM_031935.3(HMCN1):c.16243A>G (p.Ile5415Val)
|
|
|
NM_031935.3(HMCN1):c.16265G>C (p.Gly5422Ala)
|
|
|
NM_031935.3(HMCN1):c.16265G>T (p.Gly5422Val)
|
|
|
NM_031935.3(HMCN1):c.16273G>A (p.Ala5425Thr)
|
|
|
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
|
|
|
NM_031935.3(HMCN1):c.16281T>A (p.His5427Gln)
|
|
|
NM_031935.3(HMCN1):c.1628T>A (p.Ile543Asn)
|
|
|
NM_031935.3(HMCN1):c.16294+4A>T
|
|
|
NM_031935.3(HMCN1):c.16295-17G>C
|
|
|
NM_031935.3(HMCN1):c.16305A>G (p.Glu5435=)
|
rs2102667361
|
|
NM_031935.3(HMCN1):c.16314T>C (p.Asn5438=)
|
|
|
NM_031935.3(HMCN1):c.16339A>G (p.Lys5447Glu)
|
|
|
NM_031935.3(HMCN1):c.16347C>T (p.Thr5449=)
|
|
|
NM_031935.3(HMCN1):c.1637C>T (p.Ala546Val)
|
|
|
NM_031935.3(HMCN1):c.16382A>G (p.Tyr5461Cys)
|
|
|
NM_031935.3(HMCN1):c.16391C>A (p.Thr5464Lys)
|
|
|
NM_031935.3(HMCN1):c.16396A>C (p.Asn5466His)
|
|
|
NM_031935.3(HMCN1):c.16407A>G (p.Thr5469=)
|
|
|
NM_031935.3(HMCN1):c.16414+15G>C
|
|
|
NM_031935.3(HMCN1):c.16414+19del
|
rs2102667792
|
|
NM_031935.3(HMCN1):c.1648A>T (p.Asn550Tyr)
|
|
|
NM_031935.3(HMCN1):c.16542-20G>T
|
|
|
NM_031935.3(HMCN1):c.16549C>T (p.Leu5517Phe)
|
|
|
NM_031935.3(HMCN1):c.16564C>A (p.Pro5522Thr)
|
|
|
NM_031935.3(HMCN1):c.16590C>T (p.Ser5530=)
|
|
|
NM_031935.3(HMCN1):c.16593A>C (p.Pro5531=)
|
|
|
NM_031935.3(HMCN1):c.16612C>A (p.Leu5538Ile)
|
|
|
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe)
|
rs369798131
|
|
NM_031935.3(HMCN1):c.16614C>T (p.Leu5538=)
|
|
|
NM_031935.3(HMCN1):c.16615G>A (p.Val5539Ile)
|
|
|
NM_031935.3(HMCN1):c.16639A>T (p.Thr5547Ser)
|
|
|
NM_031935.3(HMCN1):c.16647A>G (p.Gln5549=)
|
|
|
NM_031935.3(HMCN1):c.16654A>G (p.Ile5552Val)
|
|
|
NM_031935.3(HMCN1):c.16654A>T (p.Ile5552Phe)
|
|
|
NM_031935.3(HMCN1):c.16674A>G (p.Thr5558=)
|
|
|
NM_031935.3(HMCN1):c.16695C>T (p.Pro5565=)
|
|
|
NM_031935.3(HMCN1):c.16701A>T (p.Thr5567=)
|
|
|
NM_031935.3(HMCN1):c.16703C>T (p.Thr5568Ile)
|
|
|
NM_031935.3(HMCN1):c.16708C>T (p.Leu5570Phe)
|
|
|
NM_031935.3(HMCN1):c.16710C>T (p.Leu5570=)
|
|
|
NM_031935.3(HMCN1):c.16746G>A (p.Leu5582=)
|
|
|
NM_031935.3(HMCN1):c.16759C>G (p.Leu5587Val)
|
|
|
NM_031935.3(HMCN1):c.16779A>G (p.Thr5593=)
|
|
|
NM_031935.3(HMCN1):c.16780A>G (p.Thr5594Ala)
|
|
|
NM_031935.3(HMCN1):c.16784G>A (p.Arg5595Gln)
|
|
|
NM_031935.3(HMCN1):c.16792C>A (p.Arg5598=)
|
|
|
NM_031935.3(HMCN1):c.16810C>T (p.Arg5604Cys)
|
|
|
NM_031935.3(HMCN1):c.16819G>A (p.Val5607Ile)
|
|
|
NM_031935.3(HMCN1):c.16823G>A (p.Arg5608Gln)
|
|
|
NM_031935.3(HMCN1):c.16827C>T (p.Ala5609=)
|
|
|
NM_031935.3(HMCN1):c.16834T>G (p.Tyr5612Asp)
|
|
|
NM_031935.3(HMCN1):c.16844A>G (p.Asn5615Ser)
|
|
|
NM_031935.3(HMCN1):c.16872C>A (p.Phe5624Leu)
|
|
|
NM_031935.3(HMCN1):c.16873A>G (p.Ile5625Val)
|
|
|
NM_031935.3(HMCN1):c.16876G>C (p.Val5626Leu)
|
|
|
NM_031935.3(HMCN1):c.16881T>C (p.Tyr5627=)
|
|
|
NM_031935.3(HMCN1):c.16884A>G (p.Ile5628Met)
|
|
|
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
|
|
|
NM_031935.3(HMCN1):c.1697C>T (p.Ala566Val)
|
|
|
NM_031935.3(HMCN1):c.1698G>A (p.Ala566=)
|
|
|
NM_031935.3(HMCN1):c.16G>A (p.Val6Ile)
|
|
|
NM_031935.3(HMCN1):c.1719T>C (p.Asn573=)
|
|
|
NM_031935.3(HMCN1):c.1720C>A (p.Leu574Met)
|
|
|
NM_031935.3(HMCN1):c.1725A>G (p.Ser575=)
|
|
|
NM_031935.3(HMCN1):c.1752C>T (p.Asn584=)
|
|
|
NM_031935.3(HMCN1):c.1759G>A (p.Gly587Arg)
|
|
|
NM_031935.3(HMCN1):c.1778T>C (p.Val593Ala)
|
|
|
NM_031935.3(HMCN1):c.1779T>C (p.Val593=)
|
|
|
NM_031935.3(HMCN1):c.1780T>A (p.Ser594Thr)
|
|
|
NM_031935.3(HMCN1):c.1800A>G (p.Ser600=)
|
|
|
NM_031935.3(HMCN1):c.1803C>T (p.Ala601=)
|
|
|
NM_031935.3(HMCN1):c.1804G>A (p.Ala602Thr)
|
|
|
NM_031935.3(HMCN1):c.1817T>G (p.Leu606Arg)
|
|
|
NM_031935.3(HMCN1):c.1822G>C (p.Val608Leu)
|
|
|
NM_031935.3(HMCN1):c.1828+12T>C
|
|
|
NM_031935.3(HMCN1):c.1828+3A>G
|
|
|
NM_031935.3(HMCN1):c.1829-18G>T
|
|
|
NM_031935.3(HMCN1):c.1856A>G (p.Lys619Arg)
|
rs373160107
|
|
NM_031935.3(HMCN1):c.1863G>A (p.Gln621=)
|
|
|
NM_031935.3(HMCN1):c.1903G>C (p.Ala635Pro)
|
|
|
NM_031935.3(HMCN1):c.1913A>G (p.Tyr638Cys)
|
|
|
NM_031935.3(HMCN1):c.1918A>G (p.Lys640Glu)
|
|
|
NM_031935.3(HMCN1):c.1921C>T (p.Pro641Ser)
|
|
|
NM_031935.3(HMCN1):c.1926G>T (p.Lys642Asn)
|
|
|
NM_031935.3(HMCN1):c.1944C>T (p.Asn648=)
|
|
|
NM_031935.3(HMCN1):c.1945G>A (p.Asp649Asn)
|
|
|
NM_031935.3(HMCN1):c.1949T>C (p.Met650Thr)
|
|
|
NM_031935.3(HMCN1):c.1957G>A (p.Val653Met)
|
|
|
NM_031935.3(HMCN1):c.1970+12G>A
|
|
|
NM_031935.3(HMCN1):c.1971-12T>A
|
|
|
NM_031935.3(HMCN1):c.1973A>T (p.Tyr658Phe)
|
|
|
NM_031935.3(HMCN1):c.200T>C (p.Leu67Ser)
|
|
|
NM_031935.3(HMCN1):c.2016T>A (p.Ala672=)
|
|
|
NM_031935.3(HMCN1):c.2030G>A (p.Gly677Glu)
|
|
|
NM_031935.3(HMCN1):c.2031G>T (p.Gly677=)
|
|
|
NM_031935.3(HMCN1):c.2040T>A (p.Gly680=)
|
|
|
NM_031935.3(HMCN1):c.2072A>G (p.Lys691Arg)
|
|
|
NM_031935.3(HMCN1):c.2075A>G (p.Gln692Arg)
|
|
|
NM_031935.3(HMCN1):c.207G>A (p.Thr69=)
|
|
|
NM_031935.3(HMCN1):c.2095A>G (p.Ile699Val)
|
|
|
NM_031935.3(HMCN1):c.2099-17G>A
|
|
|
NM_031935.3(HMCN1):c.2099-18C>T
|
|
|
NM_031935.3(HMCN1):c.2099-4dup
|
|
|
NM_031935.3(HMCN1):c.2104C>T (p.Pro702Ser)
|
|
|
NM_031935.3(HMCN1):c.2105C>T (p.Pro702Leu)
|
|
|
NM_031935.3(HMCN1):c.2118A>T (p.Val706=)
|
|
|
NM_031935.3(HMCN1):c.2131C>T (p.Leu711Phe)
|
|
|
NM_031935.3(HMCN1):c.2138_2147del (p.Val713fs)
|
rs747533230
|
|
NM_031935.3(HMCN1):c.2150A>T (p.Asp717Val)
|
|
|
NM_031935.3(HMCN1):c.2194C>G (p.Gln732Glu)
|
|
|
NM_031935.3(HMCN1):c.2205G>C (p.Trp735Cys)
|
|
|
NM_031935.3(HMCN1):c.2212+12C>G
|
|
|
NM_031935.3(HMCN1):c.2212+4C>T
|
|
|
NM_031935.3(HMCN1):c.2213-12G>A
|
rs1393749923
|
|
NM_031935.3(HMCN1):c.2213-16C>G
|
|
|
NM_031935.3(HMCN1):c.2213-17C>T
|
|
|
NM_031935.3(HMCN1):c.2213-19C>T
|
rs760811951
|
|
NM_031935.3(HMCN1):c.2213-7G>A
|
|
|
NM_031935.3(HMCN1):c.2223G>A (p.Glu741=)
|
|
|
NM_031935.3(HMCN1):c.2235A>T (p.Ser745=)
|
|
|
NM_031935.3(HMCN1):c.2244C>T (p.Leu748=)
|
|
|
NM_031935.3(HMCN1):c.2257C>G (p.Leu753Val)
|
|
|
NM_031935.3(HMCN1):c.2275A>T (p.Ile759Phe)
|
|
|
NM_031935.3(HMCN1):c.2287C>G (p.Gln763Glu)
|
|
|
NM_031935.3(HMCN1):c.2317G>A (p.Val773Ile)
|
|
|
NM_031935.3(HMCN1):c.2318T>G (p.Val773Gly)
|
|
|
NM_031935.3(HMCN1):c.2320G>A (p.Ala774Thr)
|
|
|
NM_031935.3(HMCN1):c.2325C>T (p.Ile775=)
|
|
|
NM_031935.3(HMCN1):c.2326A>C (p.Asn776His)
|
rs1183242164
|
|
NM_031935.3(HMCN1):c.2344A>G (p.Thr782Ala)
|
|
|
NM_031935.3(HMCN1):c.2362G>A (p.Asp788Asn)
|
|
|
NM_031935.3(HMCN1):c.2369G>A (p.Gly790Asp)
|
rs752448870
|
|
NM_031935.3(HMCN1):c.2372-20T>C
|
|
|
NM_031935.3(HMCN1):c.2374C>T (p.Pro792Ser)
|
|
|
NM_031935.3(HMCN1):c.2375C>T (p.Pro792Leu)
|
|
|
NM_031935.3(HMCN1):c.2388A>G (p.Ile796Met)
|
|
|
NM_031935.3(HMCN1):c.23A>T (p.His8Leu)
|
|
|
NM_031935.3(HMCN1):c.2411T>C (p.Met804Thr)
|
rs1447338870
|
|
NM_031935.3(HMCN1):c.2414A>C (p.Glu805Ala)
|
|
|
NM_031935.3(HMCN1):c.2425A>G (p.Asn809Asp)
|
|
|
NM_031935.3(HMCN1):c.243T>C (p.Phe81=)
|
|
|
NM_031935.3(HMCN1):c.2441G>C (p.Cys814Ser)
|
|
|
NM_031935.3(HMCN1):c.2443T>C (p.Tyr815His)
|
|
|
NM_031935.3(HMCN1):c.2448T>C (p.Val816=)
|
|
|
NM_031935.3(HMCN1):c.2455T>G (p.Tyr819Asp)
|
|
|
NM_031935.3(HMCN1):c.2467A>G (p.Thr823Ala)
|
|
|
NM_031935.3(HMCN1):c.2470A>G (p.Ile824Val)
|
|
|
NM_031935.3(HMCN1):c.2480G>A (p.Arg827Gln)
|
|
|
NM_031935.3(HMCN1):c.2489A>G (p.Asp830Gly)
|
|
|
NM_031935.3(HMCN1):c.2498C>T (p.Pro833Leu)
|
|
|
NM_031935.3(HMCN1):c.2507C>A (p.Ser836Ter)
|
|
|
NM_031935.3(HMCN1):c.2513C>T (p.Pro838Leu)
|
|
|
NM_031935.3(HMCN1):c.252G>A (p.Val84=)
|
|
|
NM_031935.3(HMCN1):c.2532C>T (p.Ile844=)
|
|
|
NM_031935.3(HMCN1):c.254C>G (p.Pro85Arg)
|
|
|
NM_031935.3(HMCN1):c.254C>T (p.Pro85Leu)
|
|
|
NM_031935.3(HMCN1):c.2562T>C (p.Ile854=)
|
|
|
NM_031935.3(HMCN1):c.2567-14G>A
|
|
|
NM_031935.3(HMCN1):c.2567-7C>T
|
|
|
NM_031935.3(HMCN1):c.2588_2589delinsTG (p.Gly863Val)
|
|
|
NM_031935.3(HMCN1):c.2616G>A (p.Gln872=)
|
|
|
NM_031935.3(HMCN1):c.2623A>G (p.Lys875Glu)
|
|
|
NM_031935.3(HMCN1):c.2637G>T (p.Glu879Asp)
|
|
|
NM_031935.3(HMCN1):c.264T>C (p.Asp88=)
|
|
|
NM_031935.3(HMCN1):c.2650G>A (p.Val884Met)
|
|
|
NM_031935.3(HMCN1):c.2652G>C (p.Val884=)
|
|
|
NM_031935.3(HMCN1):c.2655C>T (p.Thr885=)
|
rs1306644036
|
|
NM_031935.3(HMCN1):c.2663-20T>C
|
|
|
NM_031935.3(HMCN1):c.2663-6A>C
|
|
|
NM_031935.3(HMCN1):c.2663-6A>T
|
rs376950753
|
|
NM_031935.3(HMCN1):c.269-20T>C
|
|
|
NM_031935.3(HMCN1):c.269-3C>T
|
|
|
NM_031935.3(HMCN1):c.271A>G (p.Ile91Val)
|
|
|
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=)
|
rs775972475
|
|
NM_031935.3(HMCN1):c.2737C>T (p.Leu913=)
|
rs1558115859
|
|
NM_031935.3(HMCN1):c.2739G>A (p.Leu913=)
|
|
|
NM_031935.3(HMCN1):c.2744C>T (p.Ala915Val)
|
|
|
NM_031935.3(HMCN1):c.2748A>G (p.Gly916=)
|
|
|
NM_031935.3(HMCN1):c.274G>T (p.Gly92Cys)
|
|
|
NM_031935.3(HMCN1):c.2758C>T (p.Pro920Ser)
|
|
|
NM_031935.3(HMCN1):c.275G>A (p.Gly92Asp)
|
|
|
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln)
|
rs568780532
|
|
NM_031935.3(HMCN1):c.2764C>A (p.Arg922Ser)
|
rs371598243
|
|
NM_031935.3(HMCN1):c.2764C>T (p.Arg922Cys)
|
|
|
NM_031935.3(HMCN1):c.2767C>T (p.Arg923Trp)
|
|
|
NM_031935.3(HMCN1):c.276C>T (p.Gly92=)
|
|
|
NM_031935.3(HMCN1):c.2791-16T>G
|
|
|
NM_031935.3(HMCN1):c.2791-17T>A
|
|
|
NM_031935.3(HMCN1):c.2791-20A>C
|
|
|
NM_031935.3(HMCN1):c.2791-9del
|
|
|
NM_031935.3(HMCN1):c.2791-9dup
|
rs576028622
|
|
NM_031935.3(HMCN1):c.2803C>T (p.Pro935Ser)
|
|
|
NM_031935.3(HMCN1):c.2808C>T (p.Tyr936=)
|
|
|
NM_031935.3(HMCN1):c.2827G>A (p.Gly943Arg)
|
|
|
NM_031935.3(HMCN1):c.2835C>A (p.Leu945=)
|
|
|
NM_031935.3(HMCN1):c.2838T>C (p.His946=)
|
|
|
NM_031935.3(HMCN1):c.2845del (p.Arg949fs)
|
|
|
NM_031935.3(HMCN1):c.2853G>T (p.Gln951His)
|
|
|
NM_031935.3(HMCN1):c.2861A>G (p.Asp954Gly)
|
|
|
NM_031935.3(HMCN1):c.2893G>A (p.Val965Ile)
|
|
|
NM_031935.3(HMCN1):c.2910del (p.Asn970fs)
|
|
|
NM_031935.3(HMCN1):c.2922T>C (p.Ser974=)
|
|
|
NM_031935.3(HMCN1):c.2925G>T (p.Val975=)
|
|
|
NM_031935.3(HMCN1):c.2931_2932delinsAA (p.His978Asn)
|
|
|
NM_031935.3(HMCN1):c.2935+11C>T
|
|
|
NM_031935.3(HMCN1):c.2935+16A>G
|
|
|
NM_031935.3(HMCN1):c.2935+18T>C
|
|
|
NM_031935.3(HMCN1):c.2935+4AG[3]
|
rs373061524
|
|
NM_031935.3(HMCN1):c.2936-14A>G
|
|
|
NM_031935.3(HMCN1):c.2945C>A (p.Thr982Asn)
|
|
|
NM_031935.3(HMCN1):c.2952G>T (p.Gln984His)
|
|
|
NM_031935.3(HMCN1):c.2955T>C (p.His985=)
|
|
|
NM_031935.3(HMCN1):c.2959CAG[3] (p.Gln988dup)
|
rs2102018182
|
|
NM_031935.3(HMCN1):c.2996C>G (p.Thr999Ser)
|
|
|
NM_031935.3(HMCN1):c.2999T>C (p.Leu1000Ser)
|
|
|
NM_031935.3(HMCN1):c.3001C>T (p.Pro1001Ser)
|
|
|
NM_031935.3(HMCN1):c.3003A>T (p.Pro1001=)
|
|
|
NM_031935.3(HMCN1):c.3045C>G (p.Ser1015=)
|
|
|
NM_031935.3(HMCN1):c.3048+7G>A
|
|
|
NM_031935.3(HMCN1):c.3049-11G>A
|
|
|
NM_031935.3(HMCN1):c.3049-12C>T
|
|
|
NM_031935.3(HMCN1):c.3049-14G>A
|
|
|
NM_031935.3(HMCN1):c.3049-15C>T
|
|
|
NM_031935.3(HMCN1):c.3062T>C (p.Ile1021Thr)
|
|
|
NM_031935.3(HMCN1):c.3066A>T (p.Ser1022=)
|
|
|
NM_031935.3(HMCN1):c.3076G>A (p.Ala1026Thr)
|
|
|
NM_031935.3(HMCN1):c.3084T>C (p.Phe1028=)
|
|
|
NM_031935.3(HMCN1):c.30A>G (p.Val10=)
|
|
|
NM_031935.3(HMCN1):c.3111T>A (p.Tyr1037Ter)
|
|
|
NM_031935.3(HMCN1):c.313T>A (p.Tyr105Asn)
|
|
|
NM_031935.3(HMCN1):c.3153C>T (p.Cys1051=)
|
|
|
NM_031935.3(HMCN1):c.3155C>A (p.Thr1052Asn)
|
|
|
NM_031935.3(HMCN1):c.3171C>T (p.Ala1057=)
|
|
|
NM_031935.3(HMCN1):c.3194A>G (p.Gln1065Arg)
|
|
|
NM_031935.3(HMCN1):c.3198A>G (p.Leu1066=)
|
|
|
NM_031935.3(HMCN1):c.3206A>G (p.Tyr1069Cys)
|
|
|
NM_031935.3(HMCN1):c.3206A>T (p.Tyr1069Phe)
|
|
|
NM_031935.3(HMCN1):c.3208+6A>T
|
|
|
NM_031935.3(HMCN1):c.3209-11G>A
|
|
|
NM_031935.3(HMCN1):c.3209-14T>C
|
|
|
NM_031935.3(HMCN1):c.3209-15A>T
|
|
|
NM_031935.3(HMCN1):c.3209-5T>C
|
|
|
NM_031935.3(HMCN1):c.3217A>G (p.Arg1073Gly)
|
|
|
NM_031935.3(HMCN1):c.3222G>T (p.Val1074=)
|
|
|
NM_031935.3(HMCN1):c.3234A>G (p.Gln1078=)
|
|
|
NM_031935.3(HMCN1):c.323G>A (p.Arg108Lys)
|
|
|
NM_031935.3(HMCN1):c.3255G>A (p.Lys1085=)
|
|
|
NM_031935.3(HMCN1):c.3270C>T (p.Ser1090=)
|
|
|
NM_031935.3(HMCN1):c.3271G>A (p.Val1091Ile)
|
|
|
NM_031935.3(HMCN1):c.3291A>G (p.Val1097=)
|
|
|
NM_031935.3(HMCN1):c.3323C>T (p.Pro1108Leu)
|
|
|
NM_031935.3(HMCN1):c.3335C>G (p.Thr1112Ser)
|
|
|
NM_031935.3(HMCN1):c.3336T>A (p.Thr1112=)
|
|
|
NM_031935.3(HMCN1):c.3365C>T (p.Pro1122Leu)
|
|
|
NM_031935.3(HMCN1):c.3372T>A (p.Ser1124=)
|
|
|
NM_031935.3(HMCN1):c.3377+14dup
|
rs150613512
|
|
NM_031935.3(HMCN1):c.3378-20A>G
|
|
|
NM_031935.3(HMCN1):c.3389T>A (p.Leu1130His)
|
|
|
NM_031935.3(HMCN1):c.338A>G (p.Gln113Arg)
|
|
|
NM_031935.3(HMCN1):c.339+17A>G
|
|
|
NM_031935.3(HMCN1):c.339+19T>A
|
|
|
NM_031935.3(HMCN1):c.339+3G>A
|
|
|
NM_031935.3(HMCN1):c.3391C>T (p.Pro1131Ser)
|
|
|
NM_031935.3(HMCN1):c.339G>A (p.Gln113=)
|
|
|
NM_031935.3(HMCN1):c.340-3C>T
|
|
|
NM_031935.3(HMCN1):c.340-9A>G
|
|
|
NM_031935.3(HMCN1):c.3430G>A (p.Asp1144Asn)
|
|
|
NM_031935.3(HMCN1):c.3458C>T (p.Thr1153Ile)
|
|
|
NM_031935.3(HMCN1):c.3462T>C (p.Asn1154=)
|
|
|
NM_031935.3(HMCN1):c.3465T>G (p.Ile1155Met)
|
rs2102037062
|
|
NM_031935.3(HMCN1):c.3474T>A (p.Asn1158Lys)
|
|
|
NM_031935.3(HMCN1):c.3479C>T (p.Thr1160Ile)
|
|
|
NM_031935.3(HMCN1):c.3482A>G (p.Gln1161Arg)
|
|
|
NM_031935.3(HMCN1):c.3491A>G (p.Lys1164Arg)
|
|
|
NM_031935.3(HMCN1):c.3498T>C (p.Asn1166=)
|
rs2102037213
|
|
NM_031935.3(HMCN1):c.3505+12A>G
|
|
|
NM_031935.3(HMCN1):c.3506-17C>G
|
|
|
NM_031935.3(HMCN1):c.3506-18C>G
|
|
|
NM_031935.3(HMCN1):c.3506T>A (p.Val1169Asp)
|
|
|
NM_031935.3(HMCN1):c.3510T>G (p.Pro1170=)
|
|
|
NM_031935.3(HMCN1):c.3514A>G (p.Lys1172Glu)
|
|
|
NM_031935.3(HMCN1):c.3518T>C (p.Ile1173Thr)
|
|
|
NM_031935.3(HMCN1):c.3520C>A (p.Gln1174Lys)
|
|
|
NM_031935.3(HMCN1):c.3523C>G (p.Arg1175Gly)
|
rs147236265
|
|
NM_031935.3(HMCN1):c.3523C>T (p.Arg1175Cys)
|
|
|
NM_031935.3(HMCN1):c.3560G>T (p.Arg1187Ile)
|
|
|
NM_031935.3(HMCN1):c.3575G>A (p.Cys1192Tyr)
|
rs2102042948
|
|
NM_031935.3(HMCN1):c.3576T>C (p.Cys1192=)
|
|
|
NM_031935.3(HMCN1):c.3586G>C (p.Gly1196Arg)
|
|
|
NM_031935.3(HMCN1):c.3588G>T (p.Gly1196=)
|
|
|
NM_031935.3(HMCN1):c.3598C>T (p.Pro1200Ser)
|
|
|
NM_031935.3(HMCN1):c.3641A>G (p.Asp1214Gly)
|
|
|
NM_031935.3(HMCN1):c.3654T>C (p.His1218=)
|
|
|
NM_031935.3(HMCN1):c.3664C>T (p.Pro1222Ser)
|
|
|
NM_031935.3(HMCN1):c.3688C>A (p.Gln1230Lys)
|
|
|
NM_031935.3(HMCN1):c.368T>C (p.Ile123Thr)
|
|
|
NM_031935.3(HMCN1):c.3714A>G (p.Ile1238Met)
|
|
|
NM_031935.3(HMCN1):c.371G>A (p.Gly124Glu)
|
|
|
NM_031935.3(HMCN1):c.3722G>T (p.Cys1241Phe)
|
|
|
NM_031935.3(HMCN1):c.3743G>A (p.Gly1248Asp)
|
|
|
NM_031935.3(HMCN1):c.3759_3760del (p.Glu1253fs)
|
rs1461614882
|
|
NM_031935.3(HMCN1):c.375T>C (p.Ala125=)
|
|
|
NM_031935.3(HMCN1):c.3761T>C (p.Ile1254Thr)
|
|
|
NM_031935.3(HMCN1):c.3776A>T (p.Gln1259Leu)
|
|
|
NM_031935.3(HMCN1):c.3778+14C>T
|
|
|
NM_031935.3(HMCN1):c.3784C>T (p.Pro1262Ser)
|
|
|
NM_031935.3(HMCN1):c.3792G>A (p.Val1264=)
|
rs2102052524
|
|
NM_031935.3(HMCN1):c.3805C>A (p.Pro1269Thr)
|
rs2102052587
|
|
NM_031935.3(HMCN1):c.380A>G (p.Lys127Arg)
|
|
|
NM_031935.3(HMCN1):c.3810A>G (p.Pro1270=)
|
|
|
NM_031935.3(HMCN1):c.3812A>G (p.Tyr1271Cys)
|
|
|
NM_031935.3(HMCN1):c.3835G>C (p.Val1279Leu)
|
|
|
NM_031935.3(HMCN1):c.3842A>G (p.Asn1281Ser)
|
|
|
NM_031935.3(HMCN1):c.3844C>A (p.Gln1282Lys)
|
|
|
NM_031935.3(HMCN1):c.3847C>T (p.Arg1283Cys)
|
|
|
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
|
|
|
NM_031935.3(HMCN1):c.3851T>C (p.Ile1284Thr)
|
|
|
NM_031935.3(HMCN1):c.385G>T (p.Ala129Ser)
|
|
|
NM_031935.3(HMCN1):c.3864T>C (p.Cys1288=)
|
rs374949796
|
|
NM_031935.3(HMCN1):c.3870A>G (p.Ala1290=)
|
|
|
NM_031935.3(HMCN1):c.3874+1G>A
|
|
|
NM_031935.3(HMCN1):c.3874+2T>C
|
|
|
NM_031935.3(HMCN1):c.3874+3A>G
|
|
|
NM_031935.3(HMCN1):c.3874+4C>T
|
|
|
NM_031935.3(HMCN1):c.3874+6T>C
|
|
|
NM_031935.3(HMCN1):c.3875-14A>G
|
|
|
NM_031935.3(HMCN1):c.3889A>G (p.Thr1297Ala)
|
|
|
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
|
|
|
NM_031935.3(HMCN1):c.3900G>T (p.Trp1300Cys)
|
|
|
NM_031935.3(HMCN1):c.3910G>A (p.Gly1304Ser)
|
rs2102062052
|
|
NM_031935.3(HMCN1):c.3917A>G (p.Glu1306Gly)
|
|
|
NM_031935.3(HMCN1):c.3919T>C (p.Leu1307=)
|
|
|
NM_031935.3(HMCN1):c.3927C>T (p.Gly1309=)
|
|
|
NM_031935.3(HMCN1):c.3947T>C (p.Ile1316Thr)
|
rs1558130867
|
|
NM_031935.3(HMCN1):c.3961A>G (p.Thr1321Ala)
|
|
|
NM_031935.3(HMCN1):c.3970G>T (p.Val1324Phe)
|
|
|
NM_031935.3(HMCN1):c.3977C>A (p.Ala1326Asp)
|
|
|
NM_031935.3(HMCN1):c.4003G>A (p.Glu1335Lys)
|
|
|
NM_031935.3(HMCN1):c.4011C>T (p.Ile1337=)
|
|
|
NM_031935.3(HMCN1):c.4018G>T (p.Ala1340Ser)
|
|
|
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=)
|
rs368008071
|
|
NM_031935.3(HMCN1):c.4069+10G>A
|
|
|
NM_031935.3(HMCN1):c.4070-10C>G
|
|
|
NM_031935.3(HMCN1):c.4070-14C>G
|
|
|
NM_031935.3(HMCN1):c.4070-19G>A
|
|
|
NM_031935.3(HMCN1):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_031935.3(HMCN1):c.4077A>G (p.Pro1359=)
|
|
|
NM_031935.3(HMCN1):c.407G>T (p.Gly136Val)
|
rs755376220
|
|
NM_031935.3(HMCN1):c.4089T>C (p.Asp1363=)
|
rs1388895645
|
|
NM_031935.3(HMCN1):c.4107T>C (p.Asn1369=)
|
|
|
NM_031935.3(HMCN1):c.4110G>C (p.Val1370=)
|
|
|
NM_031935.3(HMCN1):c.4113G>A (p.Ser1371=)
|
|
|
NM_031935.3(HMCN1):c.4113G>C (p.Ser1371=)
|
|
|
NM_031935.3(HMCN1):c.4119G>A (p.Leu1373=)
|
|
|
NM_031935.3(HMCN1):c.4127A>C (p.Gln1376Pro)
|
rs2102067408
|
|
NM_031935.3(HMCN1):c.4160C>T (p.Thr1387Ile)
|
|
|
NM_031935.3(HMCN1):c.4177A>G (p.Met1393Val)
|
|
|
NM_031935.3(HMCN1):c.4184A>T (p.Tyr1395Phe)
|
|
|
NM_031935.3(HMCN1):c.4188A>T (p.Lys1396Asn)
|
|
|
NM_031935.3(HMCN1):c.4200+19A>G
|
|
|
NM_031935.3(HMCN1):c.4200+19dup
|
|
|
NM_031935.3(HMCN1):c.4201-9C>A
|
rs748273446
|
|
NM_031935.3(HMCN1):c.4201-9C>T
|
|
|
NM_031935.3(HMCN1):c.4207G>A (p.Glu1403Lys)
|
|
|
NM_031935.3(HMCN1):c.4214G>A (p.Ser1405Asn)
|
|
|
NM_031935.3(HMCN1):c.4224G>A (p.Gln1408=)
|
|
|
NM_031935.3(HMCN1):c.4229_4230del (p.Val1410fs)
|
|
|
NM_031935.3(HMCN1):c.4235A>G (p.Asn1412Ser)
|
|
|
NM_031935.3(HMCN1):c.4235_4246dup (p.Ile1415_Leu1416insHisGlyLysIle)
|
|
|
NM_031935.3(HMCN1):c.4246C>T (p.Leu1416=)
|
|
|
NM_031935.3(HMCN1):c.426C>T (p.Phe142=)
|
|
|
NM_031935.3(HMCN1):c.4279G>A (p.Gly1427Arg)
|
rs2102068632
|
|
NM_031935.3(HMCN1):c.4282A>G (p.Arg1428Gly)
|
|
|
NM_031935.3(HMCN1):c.4304A>G (p.Asn1435Ser)
|
|
|
NM_031935.3(HMCN1):c.4313G>T (p.Gly1438Val)
|
|
|
NM_031935.3(HMCN1):c.4328A>G (p.Tyr1443Cys)
|
|
|
NM_031935.3(HMCN1):c.4344G>A (p.Val1448=)
|
|
|
NM_031935.3(HMCN1):c.4348+18T>A
|
|
|
NM_031935.3(HMCN1):c.4348+20A>T
|
|
|
NM_031935.3(HMCN1):c.4348+25dup
|
|
|
NM_031935.3(HMCN1):c.4349-17C>T
|
|
|
NM_031935.3(HMCN1):c.4349-7G>T
|
|
|
NM_031935.3(HMCN1):c.4353A>G (p.Pro1451=)
|
|
|
NM_031935.3(HMCN1):c.4358C>A (p.Thr1453Asn)
|
|
|
NM_031935.3(HMCN1):c.4369A>G (p.Thr1457Ala)
|
|
|
NM_031935.3(HMCN1):c.4377C>T (p.Phe1459=)
|
rs2102075523
|
|
NM_031935.3(HMCN1):c.438G>A (p.Arg146=)
|
|
|
NM_031935.3(HMCN1):c.4394T>G (p.Val1465Gly)
|
|
|
NM_031935.3(HMCN1):c.4401C>T (p.Leu1467=)
|
|
|
NM_031935.3(HMCN1):c.4410C>T (p.Asp1470=)
|
|
|
NM_031935.3(HMCN1):c.4414G>A (p.Ala1472Thr)
|
|
|
NM_031935.3(HMCN1):c.4435G>C (p.Gly1479Arg)
|
|
|
NM_031935.3(HMCN1):c.446A>T (p.Asp149Val)
|
|
|
NM_031935.3(HMCN1):c.4475+15T>C
|
|
|
NM_031935.3(HMCN1):c.4475A>G (p.Lys1492Arg)
|
|
|
NM_031935.3(HMCN1):c.4481T>C (p.Leu1494Ser)
|
|
|
NM_031935.3(HMCN1):c.4491C>T (p.Gly1497=)
|
|
|
NM_031935.3(HMCN1):c.4506A>G (p.Glu1502=)
|
rs2102094572
|
|
NM_031935.3(HMCN1):c.4510C>G (p.Leu1504Val)
|
|
|
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
|
|
|
NM_031935.3(HMCN1):c.4520G>C (p.Gly1507Ala)
|
|
|
NM_031935.3(HMCN1):c.4521A>G (p.Gly1507=)
|
|
|
NM_031935.3(HMCN1):c.4523A>G (p.Gln1508Arg)
|
|
|
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
|
|
|
NM_031935.3(HMCN1):c.453G>A (p.Arg151=)
|
|
|
NM_031935.3(HMCN1):c.4547G>A (p.Arg1516Gln)
|
|
|
NM_031935.3(HMCN1):c.4557C>T (p.Asp1519=)
|
|
|
NM_031935.3(HMCN1):c.4558A>C (p.Lys1520Gln)
|
|
|
NM_031935.3(HMCN1):c.456C>G (p.Leu152=)
|
|
|
NM_031935.3(HMCN1):c.456C>T (p.Leu152=)
|
|
|
NM_031935.3(HMCN1):c.4574G>A (p.Cys1525Tyr)
|
|
|
NM_031935.3(HMCN1):c.4576A>T (p.Thr1526Ser)
|
|
|
NM_031935.3(HMCN1):c.4583C>T (p.Ser1528Phe)
|
|
|
NM_031935.3(HMCN1):c.4624A>G (p.Ile1542Val)
|
rs2102095661
|
|
NM_031935.3(HMCN1):c.4629T>C (p.Tyr1543=)
|
|
|
NM_031935.3(HMCN1):c.462T>A (p.His154Gln)
|
|
|
NM_031935.3(HMCN1):c.4630+11T>C
|
|
|
NM_031935.3(HMCN1):c.4630+8C>A
|
|
|
NM_031935.3(HMCN1):c.4630+8C>T
|
|
|
NM_031935.3(HMCN1):c.4631-19G>A
|
rs2102131358
|
|
NM_031935.3(HMCN1):c.4632T>A (p.Ile1544=)
|
|
|
NM_031935.3(HMCN1):c.4641T>A (p.Ser1547Arg)
|
|
|
NM_031935.3(HMCN1):c.4657G>A (p.Val1553Ile)
|
|
|
NM_031935.3(HMCN1):c.4667A>G (p.Asp1556Gly)
|
|
|
NM_031935.3(HMCN1):c.4673C>A (p.Ser1558Ter)
|
rs483352757
|
|
NM_031935.3(HMCN1):c.4678T>C (p.Leu1560=)
|
|
|
NM_031935.3(HMCN1):c.4681A>G (p.Ile1561Val)
|
|
|
NM_031935.3(HMCN1):c.4703A>C (p.Glu1568Ala)
|
|
|
NM_031935.3(HMCN1):c.4713A>G (p.Thr1571=)
|
|
|
NM_031935.3(HMCN1):c.4714C>T (p.Arg1572Trp)
|
|
|
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
|
|
|
NM_031935.3(HMCN1):c.4733C>A (p.Ala1578Asp)
|
|
|
NM_031935.3(HMCN1):c.4738A>G (p.Thr1580Ala)
|
|
|
NM_031935.3(HMCN1):c.4752C>A (p.Asp1584Glu)
|
|
|
NM_031935.3(HMCN1):c.4753G>A (p.Gly1585Arg)
|
|
|
NM_031935.3(HMCN1):c.4767G>T (p.Met1589Ile)
|
|
|
NM_031935.3(HMCN1):c.4778A>C (p.Gln1593Pro)
|
|
|
NM_031935.3(HMCN1):c.4781C>T (p.Ala1594Val)
|
|
|
NM_031935.3(HMCN1):c.4782A>T (p.Ala1594=)
|
|
|
NM_031935.3(HMCN1):c.4787A>T (p.Tyr1596Phe)
|
|
|
NM_031935.3(HMCN1):c.4796_4798del (p.Lys1599_Gly1600delinsArg)
|
|
|
NM_031935.3(HMCN1):c.4797A>G (p.Lys1599=)
|
rs768356336
|
|
NM_031935.3(HMCN1):c.4801C>A (p.Gln1601Lys)
|
rs921020423
|
|
NM_031935.3(HMCN1):c.4805A>G (p.Tyr1602Cys)
|
|
|
NM_031935.3(HMCN1):c.480C>T (p.Ile160=)
|
|
|
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
|
|
|
NM_031935.3(HMCN1):c.4819C>G (p.Arg1607Gly)
|
|
|
NM_031935.3(HMCN1):c.4820G>A (p.Arg1607Gln)
|
|
|
NM_031935.3(HMCN1):c.4832C>G (p.Ser1611Cys)
|
|
|
NM_031935.3(HMCN1):c.4839A>G (p.Ser1613=)
|
|
|
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
|
|
|
NM_031935.3(HMCN1):c.4857_4858inv (p.Val1620Ile)
|
|
|
NM_031935.3(HMCN1):c.4859T>C (p.Val1620Ala)
|
|
|
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys)
|
rs765224895
|
|
NM_031935.3(HMCN1):c.4909+14T>C
|
|
|
NM_031935.3(HMCN1):c.4909+15_4909+18dup
|
|
|
NM_031935.3(HMCN1):c.4909+6G>A
|
|
|
NM_031935.3(HMCN1):c.490C>T (p.Gln164Ter)
|
|
|
NM_031935.3(HMCN1):c.4910-10_4910-3dup
|
|
|
NM_031935.3(HMCN1):c.4910-14_4910-13del
|
rs200156765
|
|
NM_031935.3(HMCN1):c.4910T>G (p.Val1637Gly)
|
|
|
NM_031935.3(HMCN1):c.4919T>C (p.Met1640Thr)
|
|
|
NM_031935.3(HMCN1):c.4927G>C (p.Gly1643Arg)
|
|
|
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
|
|
|
NM_031935.3(HMCN1):c.4938C>A (p.Ala1646=)
|
|
|
NM_031935.3(HMCN1):c.4939A>G (p.Thr1647Ala)
|
|
|
NM_031935.3(HMCN1):c.4941G>A (p.Thr1647=)
|
|
|
NM_031935.3(HMCN1):c.4947G>A (p.Leu1649=)
|
rs2102135818
|
|
NM_031935.3(HMCN1):c.4957G>A (p.Val1653Ile)
|
|
|
NM_031935.3(HMCN1):c.4961T>C (p.Val1654Ala)
|
|
|
NM_031935.3(HMCN1):c.4965T>G (p.Ile1655Met)
|
|
|
NM_031935.3(HMCN1):c.498+10A>T
|
|
|
NM_031935.3(HMCN1):c.498+17C>T
|
|
|
NM_031935.3(HMCN1):c.498+18C>T
|
|
|
NM_031935.3(HMCN1):c.498+19del
|
|
|
NM_031935.3(HMCN1):c.499-12T>G
|
|
|
NM_031935.3(HMCN1):c.499-15T>G
|
|
|
NM_031935.3(HMCN1):c.499-6T>A
|
|
|
NM_031935.3(HMCN1):c.4996G>T (p.Ala1666Ser)
|
|
|
NM_031935.3(HMCN1):c.4997del (p.Ala1666fs)
|
|
|
NM_031935.3(HMCN1):c.502G>A (p.Val168Ile)
|
|
|
NM_031935.3(HMCN1):c.502G>T (p.Val168Leu)
|
|
|
NM_031935.3(HMCN1):c.5036G>A (p.Gly1679Asp)
|
|
|
NM_031935.3(HMCN1):c.5041C>T (p.Pro1681Ser)
|
|
|
NM_031935.3(HMCN1):c.5043T>C (p.Pro1681=)
|
rs1406363098
|
|
NM_031935.3(HMCN1):c.5057A>G (p.Asp1686Gly)
|
|
|
NM_031935.3(HMCN1):c.5060A>G (p.Asn1687Ser)
|
|
|
NM_031935.3(HMCN1):c.5061T>G (p.Asn1687Lys)
|
|
|
NM_031935.3(HMCN1):c.5065C>T (p.Arg1689Cys)
|
|
|
NM_031935.3(HMCN1):c.5066G>A (p.Arg1689His)
|
|
|
NM_031935.3(HMCN1):c.5066G>T (p.Arg1689Leu)
|
|
|
NM_031935.3(HMCN1):c.5076T>C (p.Ala1692=)
|
|
|
NM_031935.3(HMCN1):c.5078G>C (p.Gly1693Ala)
|
|
|
NM_031935.3(HMCN1):c.5079T>C (p.Gly1693=)
|
|
|
NM_031935.3(HMCN1):c.508G>A (p.Val170Ile)
|
|
|
NM_031935.3(HMCN1):c.5092G>A (p.Glu1698Lys)
|
|
|
NM_031935.3(HMCN1):c.50A>T (p.Tyr17Phe)
|
|
|
NM_031935.3(HMCN1):c.5126A>T (p.Gln1709Leu)
|
|
|
NM_031935.3(HMCN1):c.5132T>C (p.Ile1711Thr)
|
|
|
NM_031935.3(HMCN1):c.5142T>A (p.Ala1714=)
|
|
|
NM_031935.3(HMCN1):c.514A>T (p.Thr172Ser)
|
rs2102358412
|
|
NM_031935.3(HMCN1):c.5154A>G (p.Ala1718=)
|
|
|
NM_031935.3(HMCN1):c.5169C>A (p.Ile1723=)
|
|
|
NM_031935.3(HMCN1):c.5171A>G (p.Lys1724Arg)
|
rs540910084
|
|
NM_031935.3(HMCN1):c.5184T>C (p.Asp1728=)
|
|
|
NM_031935.3(HMCN1):c.5188T>C (p.Leu1730=)
|
|
|
NM_031935.3(HMCN1):c.5190G>T (p.Leu1730Phe)
|
rs140707354
|
|
NM_031935.3(HMCN1):c.5191+11A>T
|
|
|
NM_031935.3(HMCN1):c.5191+20C>T
|
|
|
NM_031935.3(HMCN1):c.5191+9G>A
|
|
|
NM_031935.3(HMCN1):c.5192-18A>G
|
|
|
NM_031935.3(HMCN1):c.5222C>T (p.Thr1741Ile)
|
|
|
NM_031935.3(HMCN1):c.5236G>C (p.Val1746Leu)
|
|
|
NM_031935.3(HMCN1):c.5236G>T (p.Val1746Leu)
|
|
|
NM_031935.3(HMCN1):c.5243T>C (p.Val1748Ala)
|
|
|
NM_031935.3(HMCN1):c.5254C>T (p.Leu1752=)
|
|
|
NM_031935.3(HMCN1):c.5276C>A (p.Thr1759Lys)
|
|
|
NM_031935.3(HMCN1):c.5290C>T (p.Pro1764Ser)
|
|
|
NM_031935.3(HMCN1):c.5294C>T (p.Thr1765Ile)
|
|
|
NM_031935.3(HMCN1):c.5300+12G>C
|
|
|
NM_031935.3(HMCN1):c.5300+17G>A
|
|
|
NM_031935.3(HMCN1):c.5300+6G>C
|
|
|
NM_031935.3(HMCN1):c.5300+7G>A
|
rs367562861
|
|
NM_031935.3(HMCN1):c.5301-12del
|
|
|
NM_031935.3(HMCN1):c.5301-14G>C
|
|
|
NM_031935.3(HMCN1):c.5301-20C>T
|
|
|
NM_031935.3(HMCN1):c.5301-3T>C
|
|
|
NM_031935.3(HMCN1):c.5301-7del
|
|
|
NM_031935.3(HMCN1):c.5318del (p.Gln1773fs)
|
|
|
NM_031935.3(HMCN1):c.5329G>A (p.Glu1777Lys)
|
|
|
NM_031935.3(HMCN1):c.5335G>C (p.Asp1779His)
|
|
|
NM_031935.3(HMCN1):c.5343C>A (p.Phe1781Leu)
|
|
|
NM_031935.3(HMCN1):c.5346G>C (p.Lys1782Asn)
|
|
|
NM_031935.3(HMCN1):c.5346G>T (p.Lys1782Asn)
|
|
|
NM_031935.3(HMCN1):c.5364C>T (p.Arg1788=)
|
|
|
NM_031935.3(HMCN1):c.5389G>C (p.Val1797Leu)
|
|
|
NM_031935.3(HMCN1):c.5410C>T (p.Arg1804Trp)
|
rs771121234
|
|
NM_031935.3(HMCN1):c.5414G>A (p.Cys1805Tyr)
|
|
|
NM_031935.3(HMCN1):c.5433T>C (p.Ala1811=)
|
|
|
NM_031935.3(HMCN1):c.5437G>A (p.Asp1813Asn)
|
|
|
NM_031935.3(HMCN1):c.5447A>G (p.Lys1816Arg)
|
|
|
NM_031935.3(HMCN1):c.5462C>A (p.Thr1821Asn)
|
|
|
NM_031935.3(HMCN1):c.5462C>T (p.Thr1821Ile)
|
|
|
NM_031935.3(HMCN1):c.5464G>C (p.Val1822Leu)
|
|
|
NM_031935.3(HMCN1):c.5466T>G (p.Val1822=)
|
|
|
NM_031935.3(HMCN1):c.5469T>C (p.His1823=)
|
|
|
NM_031935.3(HMCN1):c.5471-20del
|
|
|
NM_031935.3(HMCN1):c.5480C>A (p.Thr1827Lys)
|
|
|
NM_031935.3(HMCN1):c.5481A>G (p.Thr1827=)
|
|
|
NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val)
|
rs137853915
|
|
NM_031935.3(HMCN1):c.54T>C (p.Ser18=)
|
|
|
NM_031935.3(HMCN1):c.5504A>G (p.Glu1835Gly)
|
|
|
NM_031935.3(HMCN1):c.5514G>T (p.Val1838=)
|
|
|
NM_031935.3(HMCN1):c.5515G>C (p.Val1839Leu)
|
|
|
NM_031935.3(HMCN1):c.5532C>T (p.Val1844=)
|
|
|
NM_031935.3(HMCN1):c.5535C>G (p.Ala1845=)
|
|
|
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys)
|
rs756344375
|
|
NM_031935.3(HMCN1):c.5546T>C (p.Ile1849Thr)
|
|
|
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
|
|
|
NM_031935.3(HMCN1):c.5560C>T (p.Pro1854Ser)
|
|
|
NM_031935.3(HMCN1):c.5584A>G (p.Lys1862Glu)
|
|
|
NM_031935.3(HMCN1):c.5605A>G (p.Thr1869Ala)
|
|
|
NM_031935.3(HMCN1):c.5614G>A (p.Gly1872Arg)
|
|
|
NM_031935.3(HMCN1):c.5619C>T (p.Asn1873=)
|
|
|
NM_031935.3(HMCN1):c.5620_5622del (p.Leu1874del)
|
|
|
NM_031935.3(HMCN1):c.5623A>G (p.Lys1875Glu)
|
|
|
NM_031935.3(HMCN1):c.5625+19C>T
|
|
|
NM_031935.3(HMCN1):c.5626-8C>T
|
|
|
NM_031935.3(HMCN1):c.5632T>A (p.Ser1878Thr)
|
|
|
NM_031935.3(HMCN1):c.5641C>T (p.Arg1881Ter)
|
|
|
NM_031935.3(HMCN1):c.5642G>A (p.Arg1881Gln)
|
|
|
NM_031935.3(HMCN1):c.5655T>C (p.Ile1885=)
|
|
|
NM_031935.3(HMCN1):c.5673A>G (p.Glu1891=)
|
|
|
NM_031935.3(HMCN1):c.5685A>T (p.Arg1895Ser)
|
|
|
NM_031935.3(HMCN1):c.5687A>G (p.Tyr1896Cys)
|
|
|
NM_031935.3(HMCN1):c.570C>T (p.Ala190=)
|
|
|
NM_031935.3(HMCN1):c.5716G>C (p.Glu1906Gln)
|
|
|
NM_031935.3(HMCN1):c.5724A>G (p.Gln1908=)
|
|
|
NM_031935.3(HMCN1):c.5736A>T (p.Gln1912His)
|
|
|
NM_031935.3(HMCN1):c.5749+17_5749+18insGA
|
|
|
NM_031935.3(HMCN1):c.5749+18C>A
|
|
|
NM_031935.3(HMCN1):c.5750-12G>A
|
|
|
NM_031935.3(HMCN1):c.5750-2A>G
|
|
|
NM_031935.3(HMCN1):c.5750-8T>A
|
|
|
NM_031935.3(HMCN1):c.5755C>T (p.Pro1919Ser)
|
|
|
NM_031935.3(HMCN1):c.576A>G (p.Thr192=)
|
|
|
NM_031935.3(HMCN1):c.5771C>G (p.Ala1924Gly)
|
|
|
NM_031935.3(HMCN1):c.5807A>G (p.Asn1936Ser)
|
|
|
NM_031935.3(HMCN1):c.5808C>A (p.Asn1936Lys)
|
|
|
NM_031935.3(HMCN1):c.5837G>T (p.Gly1946Val)
|
|
|
NM_031935.3(HMCN1):c.5851+15G>A
|
|
|
NM_031935.3(HMCN1):c.5851+5A>C
|
|
|
NM_031935.3(HMCN1):c.5852-13C>T
|
|
|
NM_031935.3(HMCN1):c.5852-19T>A
|
|
|
NM_031935.3(HMCN1):c.5859A>G (p.Thr1953=)
|
|
|
NM_031935.3(HMCN1):c.5879T>C (p.Leu1960Pro)
|
|
|
NM_031935.3(HMCN1):c.58C>T (p.Leu20=)
|
|
|
NM_031935.3(HMCN1):c.5905T>C (p.Phe1969Leu)
|
|
|
NM_031935.3(HMCN1):c.5916A>G (p.Arg1972=)
|
|
|
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
|
|
|
NM_031935.3(HMCN1):c.5933T>C (p.Ile1978Thr)
|
|
|
NM_031935.3(HMCN1):c.5941G>A (p.Ala1981Thr)
|
|
|
NM_031935.3(HMCN1):c.5952A>C (p.Ser1984=)
|
|
|
NM_031935.3(HMCN1):c.598C>T (p.Leu200=)
|
|
|
NM_031935.3(HMCN1):c.59T>C (p.Leu20Pro)
|
|
|
NM_031935.3(HMCN1):c.6018G>A (p.Leu2006=)
|
|
|
NM_031935.3(HMCN1):c.601G>A (p.Asp201Asn)
|
|
|
NM_031935.3(HMCN1):c.6021A>C (p.Gln2007His)
|
|
|
NM_031935.3(HMCN1):c.6022G>T (p.Val2008Phe)
|
|
|
NM_031935.3(HMCN1):c.6029-15A>G
|
|
|
NM_031935.3(HMCN1):c.6029-3C>T
|
|
|
NM_031935.3(HMCN1):c.6029-3dup
|
|
|
NM_031935.3(HMCN1):c.6029-8T>A
|
|
|
NM_031935.3(HMCN1):c.6032C>A (p.Ala2011Asp)
|
|
|
NM_031935.3(HMCN1):c.6061G>A (p.Val2021Met)
|
|
|
NM_031935.3(HMCN1):c.6082C>T (p.Pro2028Ser)
|
|
|
NM_031935.3(HMCN1):c.6083C>T (p.Pro2028Leu)
|
|
|
NM_031935.3(HMCN1):c.6140A>G (p.Lys2047Arg)
|
rs2102231427
|
|
NM_031935.3(HMCN1):c.6152del (p.Pro2051fs)
|
|
|
NM_031935.3(HMCN1):c.6177A>G (p.Leu2059=)
|
|
|
NM_031935.3(HMCN1):c.6180+12C>G
|
|
|
NM_031935.3(HMCN1):c.6180+7T>G
|
rs1206270737
|
|
NM_031935.3(HMCN1):c.6181-17G>A
|
rs150061349
|
|
NM_031935.3(HMCN1):c.6181-17G>C
|
|
|
NM_031935.3(HMCN1):c.6181-18C>T
|
|
|
NM_031935.3(HMCN1):c.6181G>A (p.Val2061Ile)
|
|
|
NM_031935.3(HMCN1):c.6189T>C (p.Ser2063=)
|
|
|
NM_031935.3(HMCN1):c.6204A>G (p.Leu2068=)
|
|
|
NM_031935.3(HMCN1):c.6207A>G (p.Ala2069=)
|
|
|
NM_031935.3(HMCN1):c.6208T>A (p.Leu2070Met)
|
|
|
NM_031935.3(HMCN1):c.621+16G>A
|
|
|
NM_031935.3(HMCN1):c.621+3C>T
|
|
|
NM_031935.3(HMCN1):c.6219A>G (p.Ala2073=)
|
rs1167255884
|
|
NM_031935.3(HMCN1):c.622-11C>A
|
|
|
NM_031935.3(HMCN1):c.622-11C>T
|
|
|
NM_031935.3(HMCN1):c.622-18del
|
|
|
NM_031935.3(HMCN1):c.622-6T>C
|
|
|
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys)
|
rs200822474
|
|
NM_031935.3(HMCN1):c.6220C>G (p.Gln2074Glu)
|
rs200822474
|
|
NM_031935.3(HMCN1):c.6227G>A (p.Ser2076Asn)
|
|
|
NM_031935.3(HMCN1):c.6229G>A (p.Asp2077Asn)
|
|
|
NM_031935.3(HMCN1):c.6229G>T (p.Asp2077Tyr)
|
|
|
NM_031935.3(HMCN1):c.6240G>A (p.Arg2080=)
|
|
|
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
|
|
|
NM_031935.3(HMCN1):c.6251T>A (p.Val2084Glu)
|
|
|
NM_031935.3(HMCN1):c.6286A>G (p.Ile2096Val)
|
|
|
NM_031935.3(HMCN1):c.6304+13A>G
|
|
|
NM_031935.3(HMCN1):c.6304+20_6304+23del
|
rs2102236015
|
|
NM_031935.3(HMCN1):c.6305-6A>C
|
|
|
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=)
|
rs367790421
|
|
NM_031935.3(HMCN1):c.6313A>G (p.Asn2105Asp)
|
|
|
NM_031935.3(HMCN1):c.6316A>G (p.Ile2106Val)
|
|
|
NM_031935.3(HMCN1):c.6325GAA[1] (p.Glu2110del)
|
|
|
NM_031935.3(HMCN1):c.6335A>G (p.Asn2112Ser)
|
rs1656519065
|
|
NM_031935.3(HMCN1):c.6345C>A (p.Val2115=)
|
|
|
NM_031935.3(HMCN1):c.6349A>C (p.Ile2117Leu)
|
|
|
NM_031935.3(HMCN1):c.6361G>A (p.Val2121Met)
|
|
|
NM_031935.3(HMCN1):c.636A>G (p.Val212=)
|
|
|
NM_031935.3(HMCN1):c.6370C>A (p.Leu2124Ile)
|
|
|
NM_031935.3(HMCN1):c.6377A>C (p.Gln2126Pro)
|
|
|
NM_031935.3(HMCN1):c.6380G>A (p.Ser2127Asn)
|
|
|
NM_031935.3(HMCN1):c.6384T>C (p.Asp2128=)
|
|
|
NM_031935.3(HMCN1):c.6386C>T (p.Ala2129Val)
|
|
|
NM_031935.3(HMCN1):c.63T>A (p.Ala21=)
|
|
|
NM_031935.3(HMCN1):c.63T>C (p.Ala21=)
|
|
|
NM_031935.3(HMCN1):c.6422G>C (p.Gly2141Ala)
|
|
|
NM_031935.3(HMCN1):c.6448C>T (p.Leu2150Phe)
|
|
|
NM_031935.3(HMCN1):c.6454A>G (p.Ile2152Val)
|
|
|
NM_031935.3(HMCN1):c.6470G>T (p.Ser2157Ile)
|
|
|
NM_031935.3(HMCN1):c.647_652del (p.Val216_Gln217del)
|
|
|
NM_031935.3(HMCN1):c.6481-5T>C
|
|
|
NM_031935.3(HMCN1):c.648A>G (p.Val216=)
|
|
|
NM_031935.3(HMCN1):c.6500A>G (p.Gln2167Arg)
|
rs2102263582
|
|
NM_031935.3(HMCN1):c.6507T>C (p.Thr2169=)
|
|
|
NM_031935.3(HMCN1):c.6510T>C (p.Gly2170=)
|
|
|
NM_031935.3(HMCN1):c.6512G>A (p.Arg2171His)
|
|
|
NM_031935.3(HMCN1):c.6526G>A (p.Ala2176Thr)
|
|
|
NM_031935.3(HMCN1):c.6549T>C (p.Thr2183=)
|
rs1571776522
|
|
NM_031935.3(HMCN1):c.6553A>G (p.Lys2185Glu)
|
|
|
NM_031935.3(HMCN1):c.6554A>G (p.Lys2185Arg)
|
|
|
NM_031935.3(HMCN1):c.6568A>G (p.Asn2190Asp)
|
|
|
NM_031935.3(HMCN1):c.6570C>T (p.Asn2190=)
|
|
|
NM_031935.3(HMCN1):c.6573T>C (p.Ile2191=)
|
|
|
NM_031935.3(HMCN1):c.6574T>C (p.Trp2192Arg)
|
|
|
NM_031935.3(HMCN1):c.6577+8T>A
|
|
|
NM_031935.3(HMCN1):c.6578-13dup
|
|
|
NM_031935.3(HMCN1):c.6578T>C (p.Val2193Ala)
|
|
|
NM_031935.3(HMCN1):c.6581C>T (p.Pro2194Leu)
|
|
|
NM_031935.3(HMCN1):c.6604G>T (p.Glu2202Ter)
|
|
|
NM_031935.3(HMCN1):c.6607C>T (p.Leu2203Phe)
|
rs1397176102
|
|
NM_031935.3(HMCN1):c.6609T>C (p.Leu2203=)
|
|
|
NM_031935.3(HMCN1):c.6611C>T (p.Thr2204Ile)
|
|
|
NM_031935.3(HMCN1):c.6623T>A (p.Val2208Asp)
|
|
|
NM_031935.3(HMCN1):c.6639C>T (p.Leu2213=)
|
|
|
NM_031935.3(HMCN1):c.6648G>C (p.Leu2216=)
|
|
|
NM_031935.3(HMCN1):c.6679A>G (p.Asn2227Asp)
|
|
|
NM_031935.3(HMCN1):c.667C>A (p.Leu223Ile)
|
|
|
NM_031935.3(HMCN1):c.6682C>T (p.Leu2228Phe)
|
|
|
NM_031935.3(HMCN1):c.6700+10C>T
|
|
|
NM_031935.3(HMCN1):c.6700+11A>G
|
|
|
NM_031935.3(HMCN1):c.6700+14C>A
|
|
|
NM_031935.3(HMCN1):c.6701-12A>G
|
|
|
NM_031935.3(HMCN1):c.6701-17T>G
|
|
|
NM_031935.3(HMCN1):c.6704C>T (p.Ser2235Phe)
|
|
|
NM_031935.3(HMCN1):c.6714G>T (p.Leu2238=)
|
|
|
NM_031935.3(HMCN1):c.6727G>A (p.Gly2243Arg)
|
|
|
NM_031935.3(HMCN1):c.6727G>C (p.Gly2243Arg)
|
|
|
NM_031935.3(HMCN1):c.6730C>T (p.Arg2244Ter)
|
|
|
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
|
|
|
NM_031935.3(HMCN1):c.6750G>A (p.Gly2250=)
|
|
|
NM_031935.3(HMCN1):c.6751G>A (p.Gly2251Ser)
|
|
|
NM_031935.3(HMCN1):c.6798C>T (p.Leu2266=)
|
|
|
NM_031935.3(HMCN1):c.6799T>C (p.Tyr2267His)
|
|
|
NM_031935.3(HMCN1):c.6804A>G (p.Ser2268=)
|
|
|
NM_031935.3(HMCN1):c.6812C>T (p.Ala2271Val)
|
|
|
NM_031935.3(HMCN1):c.6822T>C (p.Val2274=)
|
|
|
NM_031935.3(HMCN1):c.6828G>A (p.Gly2276=)
|
|
|
NM_031935.3(HMCN1):c.6843A>G (p.Glu2281=)
|
|
|
NM_031935.3(HMCN1):c.6849T>C (p.Asn2283=)
|
|
|
NM_031935.3(HMCN1):c.6850C>G (p.Leu2284Val)
|
|
|
NM_031935.3(HMCN1):c.6863-19A>G
|
|
|
NM_031935.3(HMCN1):c.6863-6C>A
|
|
|
NM_031935.3(HMCN1):c.6874A>G (p.Ile2292Val)
|
|
|
NM_031935.3(HMCN1):c.6887G>T (p.Gly2296Val)
|
|
|
NM_031935.3(HMCN1):c.688G>T (p.Glu230Ter)
|
|
|
NM_031935.3(HMCN1):c.6891C>T (p.Ser2297=)
|
|
|
NM_031935.3(HMCN1):c.6893A>G (p.His2298Arg)
|
|
|
NM_031935.3(HMCN1):c.6897T>A (p.Pro2299=)
|
rs764699819
|
|
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
|
|
|
NM_031935.3(HMCN1):c.6930C>T (p.Ile2310=)
|
|
|
NM_031935.3(HMCN1):c.6939G>A (p.Glu2313=)
|
|
|
NM_031935.3(HMCN1):c.694G>A (p.Ala232Thr)
|
|
|
NM_031935.3(HMCN1):c.6951G>A (p.Gln2317=)
|
|
|
NM_031935.3(HMCN1):c.6967A>T (p.Thr2323Ser)
|
rs1571788821
|
|
NM_031935.3(HMCN1):c.6969A>G (p.Thr2323=)
|
|
|
NM_031935.3(HMCN1):c.6975C>G (p.Thr2325=)
|
|
|
NM_031935.3(HMCN1):c.697G>A (p.Val233Ile)
|
|
|
NM_031935.3(HMCN1):c.697G>C (p.Val233Leu)
|
rs540097337
|
|
NM_031935.3(HMCN1):c.6986A>T (p.Asp2329Val)
|
|
|
NM_031935.3(HMCN1):c.698T>C (p.Val233Ala)
|
|
|
NM_031935.3(HMCN1):c.6993C>A (p.His2331Gln)
|
|
|
NM_031935.3(HMCN1):c.6995C>G (p.Pro2332Arg)
|
|
|
NM_031935.3(HMCN1):c.7004A>G (p.Lys2335Arg)
|
|
|
NM_031935.3(HMCN1):c.7014A>T (p.Gly2338=)
|
|
|
NM_031935.3(HMCN1):c.7040T>A (p.Ile2347Asn)
|
|
|
NM_031935.3(HMCN1):c.7042C>T (p.Leu2348Phe)
|
|
|
NM_031935.3(HMCN1):c.7065A>G (p.Val2355=)
|
|
|
NM_031935.3(HMCN1):c.706T>C (p.Trp236Arg)
|
rs2102450858
|
|
NM_031935.3(HMCN1):c.7077C>T (p.Gly2359=)
|
|
|
NM_031935.3(HMCN1):c.7083T>C (p.Tyr2361=)
|
|
|
NM_031935.3(HMCN1):c.708G>C (p.Trp236Cys)
|
|
|
NM_031935.3(HMCN1):c.709_710inv (p.Arg237Leu)
|
|
|
NM_031935.3(HMCN1):c.7109G>A (p.Gly2370Glu)
|
|
|
NM_031935.3(HMCN1):c.7126T>C (p.Tyr2376His)
|
|
|
NM_031935.3(HMCN1):c.7141C>T (p.His2381Tyr)
|
|
|
NM_031935.3(HMCN1):c.7144+11A>G
|
|
|
NM_031935.3(HMCN1):c.7144+15G>C
|
|
|
NM_031935.3(HMCN1):c.7144+20A>G
|
|
|
NM_031935.3(HMCN1):c.7144+5G>A
|
|
|
NM_031935.3(HMCN1):c.7145-14A>G
|
|
|
NM_031935.3(HMCN1):c.7145-20T>G
|
|
|
NM_031935.3(HMCN1):c.7178C>T (p.Pro2393Leu)
|
|
|
NM_031935.3(HMCN1):c.7187T>C (p.Ile2396Thr)
|
|
|
NM_031935.3(HMCN1):c.7192G>A (p.Val2398Met)
|
|
|
NM_031935.3(HMCN1):c.720T>G (p.Phe240Leu)
|
|
|
NM_031935.3(HMCN1):c.7210G>C (p.Val2404Leu)
|
|
|
NM_031935.3(HMCN1):c.7216T>C (p.Leu2406=)
|
|
|
NM_031935.3(HMCN1):c.7242C>T (p.Pro2414=)
|
|
|
NM_031935.3(HMCN1):c.7255A>G (p.Thr2419Ala)
|
rs776278874
|
|
NM_031935.3(HMCN1):c.7255A>T (p.Thr2419Ser)
|
|
|
NM_031935.3(HMCN1):c.7263C>T (p.Phe2421=)
|
|
|
NM_031935.3(HMCN1):c.7301G>C (p.Arg2434Thr)
|
|
|
NM_031935.3(HMCN1):c.7304T>A (p.Ile2435Asn)
|
|
|
NM_031935.3(HMCN1):c.7311A>G (p.Ser2437=)
|
|
|
NM_031935.3(HMCN1):c.7328G>A (p.Arg2443Gln)
|
|
|
NM_031935.3(HMCN1):c.7333A>T (p.Met2445Leu)
|
rs1303616081
|
|
NM_031935.3(HMCN1):c.7347G>T (p.Met2449Ile)
|
|
|
NM_031935.3(HMCN1):c.7360C>A (p.Gln2454Lys)
|
|
|
NM_031935.3(HMCN1):c.7365T>C (p.Tyr2455=)
|
|
|
NM_031935.3(HMCN1):c.7372G>A (p.Val2458Ile)
|
|
|
NM_031935.3(HMCN1):c.7389T>C (p.Ala2463=)
|
|
|
NM_031935.3(HMCN1):c.7397A>G (p.Glu2466Gly)
|
|
|
NM_031935.3(HMCN1):c.7406T>C (p.Ile2469Thr)
|
|
|
NM_031935.3(HMCN1):c.7407C>G (p.Ile2469Met)
|
|
|
NM_031935.3(HMCN1):c.7407C>T (p.Ile2469=)
|
|
|
NM_031935.3(HMCN1):c.7423T>G (p.Leu2475Val)
|
|
|
NM_031935.3(HMCN1):c.7426+13T>A
|
|
|
NM_031935.3(HMCN1):c.7426+5T>C
|
|
|
NM_031935.3(HMCN1):c.7426+8T>C
|
|
|
NM_031935.3(HMCN1):c.7427-11T>C
|
|
|
NM_031935.3(HMCN1):c.7427-4T>A
|
|
|
NM_031935.3(HMCN1):c.7427-6T>G
|
|
|
NM_031935.3(HMCN1):c.7429C>T (p.Pro2477Ser)
|
|
|
NM_031935.3(HMCN1):c.7437T>A (p.His2479Gln)
|
|
|
NM_031935.3(HMCN1):c.7439T>C (p.Ile2480Thr)
|
|
|
NM_031935.3(HMCN1):c.7444G>C (p.Gly2482Arg)
|
|
|
NM_031935.3(HMCN1):c.7451dup (p.Asn2484fs)
|
rs745754104
|
|
NM_031935.3(HMCN1):c.7464T>C (p.Asp2488=)
|
|
|
NM_031935.3(HMCN1):c.7486_7487del (p.Ser2496fs)
|
|
|
NM_031935.3(HMCN1):c.7488T>C (p.Ser2496=)
|
|
|
NM_031935.3(HMCN1):c.7488T>G (p.Ser2496Arg)
|
|
|
NM_031935.3(HMCN1):c.7493C>T (p.Thr2498Met)
|
|
|
NM_031935.3(HMCN1):c.7513+19G>A
|
|
|
NM_031935.3(HMCN1):c.7513+1_7513+7dup
|
rs758285800
|
|
NM_031935.3(HMCN1):c.7513+6G>A
|
|
|
NM_031935.3(HMCN1):c.7514-6_7514-5dup
|
rs768974572
|
|
NM_031935.3(HMCN1):c.7521A>G (p.Pro2507=)
|
|
|
NM_031935.3(HMCN1):c.7536A>G (p.Thr2512=)
|
|
|
NM_031935.3(HMCN1):c.7546_7547delinsAT (p.Asp2516Ile)
|
rs2102325370
|
|
NM_031935.3(HMCN1):c.7555C>G (p.Pro2519Ala)
|
|
|
NM_031935.3(HMCN1):c.7558C>T (p.Leu2520Phe)
|
|
|
NM_031935.3(HMCN1):c.7560C>T (p.Leu2520=)
|
|
|
NM_031935.3(HMCN1):c.7562A>G (p.Gln2521Arg)
|
|
|
NM_031935.3(HMCN1):c.7568A>C (p.Asp2523Ala)
|
|
|
NM_031935.3(HMCN1):c.756T>C (p.Ser252=)
|
|
|
NM_031935.3(HMCN1):c.7585A>G (p.Ile2529Val)
|
|
|
NM_031935.3(HMCN1):c.7585A>T (p.Ile2529Leu)
|
|
|
NM_031935.3(HMCN1):c.759G>A (p.Gly253=)
|
|
|
NM_031935.3(HMCN1):c.7612A>T (p.Thr2538Ser)
|
|
|
NM_031935.3(HMCN1):c.7617T>A (p.Asn2539Lys)
|
|
|
NM_031935.3(HMCN1):c.7617T>C (p.Asn2539=)
|
|
|
NM_031935.3(HMCN1):c.7625_7626del (p.Val2542fs)
|
|
|
NM_031935.3(HMCN1):c.7626G>A (p.Val2542=)
|
|
|
NM_031935.3(HMCN1):c.7626G>T (p.Val2542=)
|
|
|
NM_031935.3(HMCN1):c.7644T>C (p.Tyr2548=)
|
|
|
NM_031935.3(HMCN1):c.7645A>T (p.Thr2549Ser)
|
|
|
NM_031935.3(HMCN1):c.7685G>A (p.Ser2562Asn)
|
|
|
NM_031935.3(HMCN1):c.7690A>G (p.Ser2564Gly)
|
|
|
NM_031935.3(HMCN1):c.7698T>C (p.Asn2566=)
|
|
|
NM_031935.3(HMCN1):c.7699G>A (p.Val2567Ile)
|
|
|
NM_031935.3(HMCN1):c.76C>T (p.Pro26Ser)
|
|
|
NM_031935.3(HMCN1):c.7700T>G (p.Val2567Gly)
|
|
|
NM_031935.3(HMCN1):c.7705+2T>G
|
rs2102326135
|
|
NM_031935.3(HMCN1):c.7711C>G (p.Pro2571Ala)
|
rs2102333727
|
|
NM_031935.3(HMCN1):c.771G>T (p.Met257Ile)
|
|
|
NM_031935.3(HMCN1):c.7730G>T (p.Gly2577Val)
|
|
|
NM_031935.3(HMCN1):c.7733G>A (p.Ser2578Asn)
|
|
|
NM_031935.3(HMCN1):c.7738G>A (p.Gly2580Ser)
|
|
|
NM_031935.3(HMCN1):c.774T>A (p.Ile258=)
|
|
|
NM_031935.3(HMCN1):c.7773C>G (p.Ser2591Arg)
|
|
|
NM_031935.3(HMCN1):c.7775C>T (p.Pro2592Leu)
|
|
|
NM_031935.3(HMCN1):c.7780T>C (p.Ser2594Pro)
|
|
|
NM_031935.3(HMCN1):c.7797T>G (p.Ala2599=)
|
|
|
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
|
|
|
NM_031935.3(HMCN1):c.7810C>G (p.Pro2604Ala)
|
|
|
NM_031935.3(HMCN1):c.7816A>G (p.Thr2606Ala)
|
|
|
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
|
|
|
NM_031935.3(HMCN1):c.782G>T (p.Arg261Leu)
|
|
|
NM_031935.3(HMCN1):c.783C>T (p.Arg261=)
|
|
|
NM_031935.3(HMCN1):c.7853C>A (p.Ser2618Tyr)
|
|
|
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
|
|
|
NM_031935.3(HMCN1):c.7867C>A (p.Arg2623Ser)
|
rs564245563
|
|
NM_031935.3(HMCN1):c.7868G>A (p.Arg2623His)
|
|
|
NM_031935.3(HMCN1):c.7873C>A (p.Leu2625Ile)
|
|
|
NM_031935.3(HMCN1):c.7879+19A>G
|
|
|
NM_031935.3(HMCN1):c.787C>G (p.Pro263Ala)
|
|
|
NM_031935.3(HMCN1):c.7880-19A>G
|
|
|
NM_031935.3(HMCN1):c.7880-4A>C
|
|
|
NM_031935.3(HMCN1):c.7903A>G (p.Asn2635Asp)
|
|
|
NM_031935.3(HMCN1):c.7908A>C (p.Ala2636=)
|
|
|
NM_031935.3(HMCN1):c.7910A>G (p.Gln2637Arg)
|
|
|
NM_031935.3(HMCN1):c.7910A>T (p.Gln2637Leu)
|
rs760728428
|
|
NM_031935.3(HMCN1):c.793+3G>A
|
rs752950964
|
|
NM_031935.3(HMCN1):c.7937G>A (p.Cys2646Tyr)
|
|
|
NM_031935.3(HMCN1):c.794-17del
|
|
|
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
|
|
|
NM_031935.3(HMCN1):c.7947G>A (p.Thr2649=)
|
|
|
NM_031935.3(HMCN1):c.7968A>G (p.Ile2656Met)
|
|
|
NM_031935.3(HMCN1):c.7994-19T>A
|
|
|
NM_031935.3(HMCN1):c.7999C>T (p.Pro2667Ser)
|
|
|
NM_031935.3(HMCN1):c.79C>G (p.Gln27Glu)
|
|
|
NM_031935.3(HMCN1):c.8008A>G (p.Asn2670Asp)
|
|
|
NM_031935.3(HMCN1):c.8013A>G (p.Lys2671=)
|
|
|
NM_031935.3(HMCN1):c.8017G>T (p.Asp2673Tyr)
|
|
|
NM_031935.3(HMCN1):c.8029C>T (p.Pro2677Ser)
|
|
|
NM_031935.3(HMCN1):c.804A>G (p.Ile268Met)
|
|
|
NM_031935.3(HMCN1):c.8076G>A (p.Leu2692=)
|
|
|
NM_031935.3(HMCN1):c.8093C>T (p.Ala2698Val)
|
|
|
NM_031935.3(HMCN1):c.8095T>A (p.Tyr2699Asn)
|
|
|
NM_031935.3(HMCN1):c.8098G>A (p.Ala2700Thr)
|
|
|
NM_031935.3(HMCN1):c.8112C>G (p.Ala2704=)
|
|
|
NM_031935.3(HMCN1):c.8118C>T (p.Leu2706=)
|
|
|
NM_031935.3(HMCN1):c.8119A>G (p.Ser2707Gly)
|
|
|
NM_031935.3(HMCN1):c.811G>A (p.Gly271Arg)
|
|
|
NM_031935.3(HMCN1):c.8126A>T (p.Tyr2709Phe)
|
rs2102343287
|
|
NM_031935.3(HMCN1):c.8139+18dup
|
|
|
NM_031935.3(HMCN1):c.8139+4A>G
|
|
|
NM_031935.3(HMCN1):c.813A>G (p.Gly271=)
|
|
|
NM_031935.3(HMCN1):c.8140C>A (p.Pro2714Thr)
|
|
|
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
|
|
|
NM_031935.3(HMCN1):c.8145T>C (p.Leu2715=)
|
|
|
NM_031935.3(HMCN1):c.8145T>G (p.Leu2715=)
|
|
|
NM_031935.3(HMCN1):c.814T>G (p.Phe272Val)
|
|
|
NM_031935.3(HMCN1):c.8160T>C (p.His2720=)
|
|
|
NM_031935.3(HMCN1):c.8175G>A (p.Ala2725=)
|
|
|
NM_031935.3(HMCN1):c.8178T>C (p.Asn2726=)
|
|
|
NM_031935.3(HMCN1):c.8180G>A (p.Gly2727Glu)
|
|
|
NM_031935.3(HMCN1):c.8188C>T (p.Leu2730Phe)
|
|
|
NM_031935.3(HMCN1):c.8204C>G (p.Ala2735Gly)
|
|
|
NM_031935.3(HMCN1):c.8208A>G (p.Gln2736=)
|
|
|
NM_031935.3(HMCN1):c.8218A>T (p.Thr2740Ser)
|
|
|
NM_031935.3(HMCN1):c.8220C>G (p.Thr2740=)
|
rs562987367
|
|
NM_031935.3(HMCN1):c.8220C>T (p.Thr2740=)
|
rs562987367
|
|
NM_031935.3(HMCN1):c.8221G>A (p.Gly2741Arg)
|
|
|
NM_031935.3(HMCN1):c.8227T>C (p.Tyr2743His)
|
|
|
NM_031935.3(HMCN1):c.8239G>A (p.Ala2747Thr)
|
|
|
NM_031935.3(HMCN1):c.8266T>C (p.Leu2756=)
|
|
|
NM_031935.3(HMCN1):c.8290+11T>C
|
|
|
NM_031935.3(HMCN1):c.8290+1G>A
|
|
|
NM_031935.3(HMCN1):c.8290+20G>A
|
|
|
NM_031935.3(HMCN1):c.8291-10T>G
|
|
|
NM_031935.3(HMCN1):c.8291-14C>G
|
|
|
NM_031935.3(HMCN1):c.8291-14C>T
|
|
|
NM_031935.3(HMCN1):c.8300G>A (p.Ser2767Asn)
|
|
|
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
|
|
|
NM_031935.3(HMCN1):c.8329A>G (p.Met2777Val)
|
|
|
NM_031935.3(HMCN1):c.8335G>C (p.Asp2779His)
|
|
|
NM_031935.3(HMCN1):c.8342G>A (p.Gly2781Asp)
|
|
|
NM_031935.3(HMCN1):c.835A>G (p.Asn279Asp)
|
|
|
NM_031935.3(HMCN1):c.8362G>A (p.Asp2788Asn)
|
|
|
NM_031935.3(HMCN1):c.838A>G (p.Ile280Val)
|
|
|
NM_031935.3(HMCN1):c.8410G>A (p.Ala2804Thr)
|
|
|
NM_031935.3(HMCN1):c.8414C>G (p.Pro2805Arg)
|
|
|
NM_031935.3(HMCN1):c.8418T>C (p.Pro2806=)
|
|
|
NM_031935.3(HMCN1):c.8423C>T (p.Thr2808Ile)
|
|
|
NM_031935.3(HMCN1):c.8425C>T (p.Leu2809=)
|
|
|
NM_031935.3(HMCN1):c.8429C>T (p.Thr2810Ile)
|
|
|
NM_031935.3(HMCN1):c.8430A>G (p.Thr2810=)
|
|
|
NM_031935.3(HMCN1):c.8448C>G (p.His2816Gln)
|
|
|
NM_031935.3(HMCN1):c.8462G>T (p.Ser2821Ile)
|
|
|
NM_031935.3(HMCN1):c.8464_8471del (p.Asp2822fs)
|
|
|
NM_031935.3(HMCN1):c.8470G>A (p.Val2824Ile)
|
rs2102362166
|
|
NM_031935.3(HMCN1):c.8481G>A (p.Leu2827=)
|
|
|
NM_031935.3(HMCN1):c.8483C>G (p.Pro2828Arg)
|
|
|
NM_031935.3(HMCN1):c.8492G>A (p.Arg2831Gln)
|
|
|
NM_031935.3(HMCN1):c.8501A>G (p.Gln2834Arg)
|
|
|
NM_031935.3(HMCN1):c.850G>A (p.Ala284Thr)
|
|
|
NM_031935.3(HMCN1):c.8536T>C (p.Tyr2846His)
|
|
|
NM_031935.3(HMCN1):c.8543G>A (p.Cys2848Tyr)
|
rs2102367466
|
|
NM_031935.3(HMCN1):c.8548G>T (p.Ala2850Ser)
|
|
|
NM_031935.3(HMCN1):c.8549C>T (p.Ala2850Val)
|
|
|
NM_031935.3(HMCN1):c.8551G>T (p.Val2851Leu)
|
|
|
NM_031935.3(HMCN1):c.8553G>T (p.Val2851=)
|
|
|
NM_031935.3(HMCN1):c.8559G>T (p.Glu2853Asp)
|
|
|
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
|
|
|
NM_031935.3(HMCN1):c.8581T>C (p.Tyr2861His)
|
|
|
NM_031935.3(HMCN1):c.8582A>G (p.Tyr2861Cys)
|
rs2102367665
|
|
NM_031935.3(HMCN1):c.8585A>G (p.Asp2862Gly)
|
|
|
NM_031935.3(HMCN1):c.8598C>T (p.Leu2866=)
|
|
|
NM_031935.3(HMCN1):c.8599+14T>C
|
|
|
NM_031935.3(HMCN1):c.8599+6T>C
|
|
|
NM_031935.3(HMCN1):c.8599G>C (p.Val2867Leu)
|
rs772584982
|
|
NM_031935.3(HMCN1):c.8613C>G (p.Ile2871Met)
|
|
|
NM_031935.3(HMCN1):c.8621C>A (p.Ala2874Glu)
|
|
|
NM_031935.3(HMCN1):c.8629G>A (p.Asp2877Asn)
|
|
|
NM_031935.3(HMCN1):c.8635C>T (p.Pro2879Ser)
|
|
|
NM_031935.3(HMCN1):c.8662A>G (p.Lys2888Glu)
|
|
|
NM_031935.3(HMCN1):c.8669C>A (p.Ala2890Glu)
|
|
|
NM_031935.3(HMCN1):c.8670A>G (p.Ala2890=)
|
|
|
NM_031935.3(HMCN1):c.8671C>T (p.Leu2891=)
|
|
|
NM_031935.3(HMCN1):c.8691T>C (p.Ser2897=)
|
|
|
NM_031935.3(HMCN1):c.8703A>G (p.Ala2901=)
|
|
|
NM_031935.3(HMCN1):c.8714C>T (p.Ser2905Phe)
|
|
|
NM_031935.3(HMCN1):c.8735C>T (p.Pro2912Leu)
|
|
|
NM_031935.3(HMCN1):c.8749G>A (p.Asp2917Asn)
|
|
|
NM_031935.3(HMCN1):c.874C>A (p.Pro292Thr)
|
|
|
NM_031935.3(HMCN1):c.8750A>G (p.Asp2917Gly)
|
|
|
NM_031935.3(HMCN1):c.8760A>G (p.Lys2920=)
|
rs2102380502
|
|
NM_031935.3(HMCN1):c.8766A>G (p.Leu2922=)
|
|
|
NM_031935.3(HMCN1):c.8779A>T (p.Ile2927Phe)
|
|
|
NM_031935.3(HMCN1):c.8784G>A (p.Leu2928=)
|
|
|
NM_031935.3(HMCN1):c.8785C>G (p.Gln2929Glu)
|
|
|
NM_031935.3(HMCN1):c.8787+20T>C
|
|
|
NM_031935.3(HMCN1):c.8787+3A>G
|
|
|
NM_031935.3(HMCN1):c.8787G>C (p.Gln2929His)
|
|
|
NM_031935.3(HMCN1):c.8788-17C>A
|
|
|
NM_031935.3(HMCN1):c.8788-5C>T
|
|
|
NM_031935.3(HMCN1):c.878A>C (p.Glu293Ala)
|
rs2102455477
|
|
NM_031935.3(HMCN1):c.8812A>G (p.Ile2938Val)
|
|
|
NM_031935.3(HMCN1):c.8813T>A (p.Ile2938Asn)
|
|
|
NM_031935.3(HMCN1):c.8816G>A (p.Gly2939Asp)
|
|
|
NM_031935.3(HMCN1):c.8820G>A (p.Arg2940=)
|
|
|
NM_031935.3(HMCN1):c.8822A>G (p.Tyr2941Cys)
|
|
|
NM_031935.3(HMCN1):c.8828G>A (p.Cys2943Tyr)
|
|
|
NM_031935.3(HMCN1):c.8833G>A (p.Ala2945Thr)
|
|
|
NM_031935.3(HMCN1):c.8842A>G (p.Thr2948Ala)
|
|
|
NM_031935.3(HMCN1):c.8843C>T (p.Thr2948Ile)
|
|
|
NM_031935.3(HMCN1):c.8848G>C (p.Gly2950Arg)
|
|
|
NM_031935.3(HMCN1):c.8865T>C (p.Tyr2955=)
|
|
|
NM_031935.3(HMCN1):c.8872C>T (p.Leu2958Phe)
|
|
|
NM_031935.3(HMCN1):c.8875A>C (p.Asn2959His)
|
|
|
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
|
|
|
NM_031935.3(HMCN1):c.8877T>C (p.Asn2959=)
|
|
|
NM_031935.3(HMCN1):c.8884+16C>T
|
|
|
NM_031935.3(HMCN1):c.8887C>A (p.Pro2963Thr)
|
|
|
NM_031935.3(HMCN1):c.8901_8919del (p.Gly2968fs)
|
|
|
NM_031935.3(HMCN1):c.8905C>T (p.Pro2969Ser)
|
|
|
NM_031935.3(HMCN1):c.8907T>A (p.Pro2969=)
|
|
|
NM_031935.3(HMCN1):c.8924C>T (p.Thr2975Ile)
|
|
|
NM_031935.3(HMCN1):c.8926G>A (p.Val2976Ile)
|
|
|
NM_031935.3(HMCN1):c.8939A>G (p.Asn2980Ser)
|
|
|
NM_031935.3(HMCN1):c.8959G>A (p.Glu2987Lys)
|
|
|
NM_031935.3(HMCN1):c.89T>A (p.Ile30Asn)
|
|
|
NM_031935.3(HMCN1):c.8C>A (p.Ser3Tyr)
|
|
|
NM_031935.3(HMCN1):c.900+11T>A
|
rs2102455541
|
|
NM_031935.3(HMCN1):c.900+14A>G
|
|
|
NM_031935.3(HMCN1):c.900+5G>A
|
|
|
NM_031935.3(HMCN1):c.901-8A>G
|
|
|
NM_031935.3(HMCN1):c.9016A>G (p.Lys3006Glu)
|
|
|
NM_031935.3(HMCN1):c.9020T>A (p.Leu3007Gln)
|
|
|
NM_031935.3(HMCN1):c.9030T>C (p.Asn3010=)
|
|
|
NM_031935.3(HMCN1):c.9034C>A (p.Leu3012Ile)
|
rs267598234
|
|
NM_031935.3(HMCN1):c.9035T>C (p.Leu3012Pro)
|
|
|
NM_031935.3(HMCN1):c.9042G>A (p.Val3014=)
|
|
|
NM_031935.3(HMCN1):c.9043C>T (p.Pro3015Ser)
|
|
|
NM_031935.3(HMCN1):c.9046+12C>T
|
|
|
NM_031935.3(HMCN1):c.9046+5G>A
|
|
|
NM_031935.3(HMCN1):c.9047-12A>C
|
|
|
NM_031935.3(HMCN1):c.9047-14C>G
|
|
|
NM_031935.3(HMCN1):c.9047-5T>C
|
|
|
NM_031935.3(HMCN1):c.9048T>C (p.Gly3016=)
|
rs2102400726
|
|
NM_031935.3(HMCN1):c.9049G>C (p.Gly3017Arg)
|
|
|
NM_031935.3(HMCN1):c.9055A>C (p.Thr3019Pro)
|
|
|
NM_031935.3(HMCN1):c.9060A>G (p.Leu3020=)
|
|
|
NM_031935.3(HMCN1):c.9070C>T (p.Arg3024Trp)
|
|
|
NM_031935.3(HMCN1):c.9087T>C (p.Asp3029=)
|
|
|
NM_031935.3(HMCN1):c.9089G>A (p.Gly3030Asp)
|
|
|
NM_031935.3(HMCN1):c.9095A>C (p.Glu3032Ala)
|
|
|
NM_031935.3(HMCN1):c.9101C>T (p.Thr3034Ile)
|
|
|
NM_031935.3(HMCN1):c.9113T>A (p.Ile3038Asn)
|
|
|
NM_031935.3(HMCN1):c.9126C>T (p.Gly3042=)
|
|
|
NM_031935.3(HMCN1):c.9131G>A (p.Ser3044Asn)
|
|
|
NM_031935.3(HMCN1):c.9142T>C (p.Phe3048Leu)
|
|
|
NM_031935.3(HMCN1):c.9160+16C>T
|
|
|
NM_031935.3(HMCN1):c.9160+4C>T
|
|
|
NM_031935.3(HMCN1):c.9161-10C>G
|
|
|
NM_031935.3(HMCN1):c.9161-19T>C
|
|
|
NM_031935.3(HMCN1):c.9161-5C>T
|
|
|
NM_031935.3(HMCN1):c.9180C>A (p.Asp3060Glu)
|
|
|
NM_031935.3(HMCN1):c.9186C>T (p.Asp3062=)
|
|
|
NM_031935.3(HMCN1):c.9193T>C (p.Ser3065Pro)
|
|
|
NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro)
|
rs752694815
|
|
NM_031935.3(HMCN1):c.9224C>T (p.Thr3075Ile)
|
|
|
NM_031935.3(HMCN1):c.9249G>T (p.Ser3083=)
|
|
|
NM_031935.3(HMCN1):c.9252C>T (p.Asn3084=)
|
|
|
NM_031935.3(HMCN1):c.9253G>A (p.Ala3085Thr)
|
rs377710966
|
|
NM_031935.3(HMCN1):c.9263C>G (p.Pro3088Arg)
|
|
|
NM_031935.3(HMCN1):c.9281A>G (p.Tyr3094Cys)
|
|
|
NM_031935.3(HMCN1):c.9286A>G (p.Asn3096Asp)
|
|
|
NM_031935.3(HMCN1):c.9287A>C (p.Asn3096Thr)
|
|
|
NM_031935.3(HMCN1):c.928C>T (p.Arg310Cys)
|
|
|
NM_031935.3(HMCN1):c.9292C>A (p.Arg3098=)
|
|
|
NM_031935.3(HMCN1):c.9292C>T (p.Arg3098Trp)
|
rs1002862471
|
|
NM_031935.3(HMCN1):c.929G>A (p.Arg310His)
|
|
|
NM_031935.3(HMCN1):c.929G>T (p.Arg310Leu)
|
|
|
NM_031935.3(HMCN1):c.9302C>A (p.Thr3101Lys)
|
|
|
NM_031935.3(HMCN1):c.9306G>A (p.Glu3102=)
|
|
|
NM_031935.3(HMCN1):c.9314A>G (p.His3105Arg)
|
rs371120895
|
|
NM_031935.3(HMCN1):c.9321G>T (p.Glu3107Asp)
|
|
|
NM_031935.3(HMCN1):c.9329C>G (p.Ala3110Gly)
|
|
|
NM_031935.3(HMCN1):c.9340A>T (p.Met3114Leu)
|
|
|
NM_031935.3(HMCN1):c.9341T>G (p.Met3114Arg)
|
|
|
NM_031935.3(HMCN1):c.9363+10T>G
|
|
|
NM_031935.3(HMCN1):c.9363+16T>C
|
|
|
NM_031935.3(HMCN1):c.9363+17T>G
|
|
|
NM_031935.3(HMCN1):c.9363+20T>C
|
|
|
NM_031935.3(HMCN1):c.9363+7C>A
|
|
|
NM_031935.3(HMCN1):c.9363+7del
|
|
|
NM_031935.3(HMCN1):c.9364-15A>G
|
|
|
NM_031935.3(HMCN1):c.9377G>T (p.Gly3126Val)
|
|
|
NM_031935.3(HMCN1):c.9385G>A (p.Val3129Ile)
|
rs2102403123
|
|
NM_031935.3(HMCN1):c.9404T>C (p.Val3135Ala)
|
|
|
NM_031935.3(HMCN1):c.940C>T (p.Leu314Phe)
|
|
|
NM_031935.3(HMCN1):c.9412C>T (p.Arg3138Trp)
|
|
|
NM_031935.3(HMCN1):c.9413G>A (p.Arg3138Gln)
|
|
|
NM_031935.3(HMCN1):c.9414G>A (p.Arg3138=)
|
|
|
NM_031935.3(HMCN1):c.9419A>G (p.Asp3140Gly)
|
|
|
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe)
|
rs192222844
|
|
NM_031935.3(HMCN1):c.9437A>G (p.Asn3146Ser)
|
|
|
NM_031935.3(HMCN1):c.9445+11G>A
|
|
|
NM_031935.3(HMCN1):c.9445+16T>C
|
|
|
NM_031935.3(HMCN1):c.9445+3G>A
|
|
|
NM_031935.3(HMCN1):c.9446-10T>C
|
|
|
NM_031935.3(HMCN1):c.9446-11G>A
|
|
|
NM_031935.3(HMCN1):c.9446-5dup
|
|
|
NM_031935.3(HMCN1):c.9455G>C (p.Ser3152Thr)
|
|
|
NM_031935.3(HMCN1):c.9462A>T (p.Glu3154Asp)
|
|
|
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=)
|
rs886045677
|
|
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)
|
|
|
NM_031935.3(HMCN1):c.948T>C (p.Thr316=)
|
|
|
NM_031935.3(HMCN1):c.9491C>A (p.Thr3164Lys)
|
|
|
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
|
|
|
NM_031935.3(HMCN1):c.9492G>A (p.Thr3164=)
|
|
|
NM_031935.3(HMCN1):c.9492G>T (p.Thr3164=)
|
|
|
NM_031935.3(HMCN1):c.9503C>T (p.Pro3168Leu)
|
|
|
NM_031935.3(HMCN1):c.9519T>C (p.Cys3173=)
|
|
|
NM_031935.3(HMCN1):c.9525C>T (p.Ala3175=)
|
|
|
NM_031935.3(HMCN1):c.9528T>C (p.Thr3176=)
|
|
|
NM_031935.3(HMCN1):c.9537A>G (p.Pro3179=)
|
|
|
NM_031935.3(HMCN1):c.9538C>T (p.Pro3180Ser)
|
|
|
NM_031935.3(HMCN1):c.9545C>T (p.Thr3182Met)
|
|
|
NM_031935.3(HMCN1):c.9571C>T (p.Arg3191Cys)
|
|
|
NM_031935.3(HMCN1):c.9572G>A (p.Arg3191His)
|
|
|
NM_031935.3(HMCN1):c.9572G>T (p.Arg3191Leu)
|
|
|
NM_031935.3(HMCN1):c.9576A>C (p.Ile3192=)
|
|
|
NM_031935.3(HMCN1):c.9577+10C>T
|
|
|
NM_031935.3(HMCN1):c.9577+9A>G
|
|
|
NM_031935.3(HMCN1):c.9578-6C>A
|
rs2102405312
|
|
NM_031935.3(HMCN1):c.9597A>T (p.Glu3199Asp)
|
|
|
NM_031935.3(HMCN1):c.9604A>G (p.Ile3202Val)
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NM_031935.3(HMCN1):c.9609G>T (p.Leu3203Phe)
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rs2102405405
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NM_031935.3(HMCN1):c.9613G>A (p.Gly3205Arg)
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NM_031935.3(HMCN1):c.9638G>A (p.Arg3213Gln)
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NM_031935.3(HMCN1):c.9639G>T (p.Arg3213=)
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NM_031935.3(HMCN1):c.9660A>G (p.Gly3220=)
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NM_031935.3(HMCN1):c.9672T>C (p.Cys3224=)
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NM_031935.3(HMCN1):c.9720A>T (p.Ser3240=)
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NM_031935.3(HMCN1):c.9727+1G>T
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NM_031935.3(HMCN1):c.9728-4A>G
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NM_031935.3(HMCN1):c.9730C>T (p.Pro3244Ser)
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NM_031935.3(HMCN1):c.9745G>C (p.Gly3249Arg)
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NM_031935.3(HMCN1):c.9765T>C (p.Asp3255=)
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NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)
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NM_031935.3(HMCN1):c.9774C>T (p.Val3258=)
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NM_031935.3(HMCN1):c.978G>A (p.Lys326=)
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NM_031935.3(HMCN1):c.9800T>C (p.Val3267Ala)
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NM_031935.3(HMCN1):c.9803G>A (p.Cys3268Tyr)
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NM_031935.3(HMCN1):c.9807T>A (p.Asn3269Lys)
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NM_031935.3(HMCN1):c.9837A>G (p.Gln3279=)
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NM_031935.3(HMCN1):c.9839G>A (p.Trp3280Ter)
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NM_031935.3(HMCN1):c.9887+10A>G
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NM_031935.3(HMCN1):c.9887+9A>T
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NM_031935.3(HMCN1):c.9888-13A>G
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rs2102416527
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NM_031935.3(HMCN1):c.9888-15T>C
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NM_031935.3(HMCN1):c.9888-4G>A
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NM_031935.3(HMCN1):c.9894T>C (p.Ser3298=)
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NM_031935.3(HMCN1):c.9916A>G (p.Ile3306Val)
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NM_031935.3(HMCN1):c.9928C>G (p.Leu3310Val)
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NM_031935.3(HMCN1):c.992T>C (p.Phe331Ser)
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NM_031935.3(HMCN1):c.9935C>A (p.Ser3312Tyr)
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NM_031935.3(HMCN1):c.9949T>C (p.Tyr3317His)
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NM_031935.3(HMCN1):c.9970C>T (p.Pro3324Ser)
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