NM_000410.4(HFE):c.1007-47G>A
|
rs1572982
|
0.52187
|
NR_144383.1(HFE-AS1):n.1501C>G
|
rs2794720
|
0.36679
|
NM_000410.4(HFE):c.340+4T>C
|
rs2071303
|
0.35994
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_000410.4(HFE):c.892+16G>C
|
rs145172249
|
0.00734
|
NM_000410.4(HFE):c.1026C>T (p.Tyr342=)
|
rs35201683
|
0.00515
|
NM_000410.4(HFE):c.189T>C (p.His63=)
|
rs147426902
|
0.00305
|
NM_000410.4(HFE):c.502G>C (p.Glu168Gln)
|
rs146519482
|
0.00102
|
NM_000410.4(HFE):c.829G>A (p.Glu277Lys)
|
rs140080192
|
0.00081
|
NM_000410.4(HFE):c.18G>C (p.Arg6Ser)
|
rs149342416
|
0.00072
|
NM_000410.4(HFE):c.1006+14A>G
|
rs201262562
|
0.00068
|
NM_000410.4(HFE):c.884T>C (p.Val295Ala)
|
rs143175221
|
0.00056
|
NM_000410.4(HFE):c.50C>T (p.Thr17Ile)
|
rs143662783
|
0.00044
|
NM_000410.4(HFE):c.21G>A (p.Pro7=)
|
rs114758821
|
0.00039
|
NM_000410.4(HFE):c.68G>A (p.Arg23His)
|
rs148161858
|
0.00032
|
NM_000410.4(HFE):c.496A>G (p.Lys166Glu)
|
rs144170531
|
0.00026
|
NM_000410.4(HFE):c.174C>T (p.Phe58=)
|
rs147297176
|
0.00019
|
NM_000410.4(HFE):c.670C>T (p.Arg224Trp)
|
rs144797937
|
0.00013
|
NM_000410.4(HFE):c.616+6G>A
|
rs202027115
|
0.00009
|
NM_000410.4(HFE):c.76+11G>A
|
rs201666949
|
0.00005
|
NM_000410.4(HFE):c.843G>A (p.Thr281=)
|
rs369354634
|
0.00005
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000410.4(HFE):c.1010G>T (p.Gly337Val)
|
rs751707198
|
0.00004
|
NM_000410.4(HFE):c.40C>G (p.Leu14Val)
|
rs201657128
|
0.00004
|
NM_000410.4(HFE):c.696C>T (p.Pro232=)
|
rs775728624
|
0.00004
|
NM_000410.4(HFE):c.-7T>C
|
rs369807746
|
0.00003
|
NM_000410.4(HFE):c.414C>T (p.Tyr138=)
|
rs780563614
|
0.00003
|
NM_000410.4(HFE):c.51C>T (p.Thr17=)
|
rs953205703
|
0.00003
|
NM_000410.4(HFE):c.528C>G (p.Ala176=)
|
rs779438836
|
0.00003
|
NM_000410.4(HFE):c.88C>T (p.Leu30=)
|
rs760685317
|
0.00003
|
NM_000410.4(HFE):c.156C>T (p.Tyr52=)
|
rs756070473
|
0.00002
|
NM_000410.4(HFE):c.546_547del (p.Leu183fs)
|
rs765804978
|
0.00002
|
NM_000410.4(HFE):c.6C>T (p.Gly2=)
|
rs558658016
|
0.00002
|
NM_000410.4(HFE):c.724G>A (p.Asp242Asn)
|
rs780188535
|
0.00002
|
NM_000410.4(HFE):c.867G>C (p.Leu289=)
|
rs757276126
|
0.00002
|
NM_000410.4(HFE):c.892G>T (p.Glu298Ter)
|
rs749553271
|
0.00002
|
NM_000410.4(HFE):c.903G>A (p.Pro301=)
|
rs372856303
|
0.00002
|
NM_000410.4(HFE):c.211C>T (p.Arg71Ter)
|
rs759524388
|
0.00001
|
NM_000410.4(HFE):c.314T>C (p.Ile105Thr)
|
rs28934596
|
0.00001
|
NM_000410.4(HFE):c.352C>T (p.Leu118=)
|
rs1368079234
|
0.00001
|
NM_000410.4(HFE):c.363C>T (p.Ile121=)
|
rs754323879
|
0.00001
|
NM_000410.4(HFE):c.389A>G (p.Asn130Ser)
|
rs201885016
|
0.00001
|
NM_000410.4(HFE):c.396C>T (p.Thr132=)
|
rs369790080
|
0.00001
|
NM_000410.4(HFE):c.498G>C (p.Lys166Asn)
|
rs753179816
|
0.00001
|
NM_000410.4(HFE):c.537C>T (p.Asn179=)
|
rs1284999612
|
0.00001
|
NM_000410.4(HFE):c.563C>T (p.Pro188Leu)
|
rs1762709248
|
0.00001
|
NM_000410.4(HFE):c.57C>T (p.Val19=)
|
rs749460044
|
0.00001
|
NM_000410.4(HFE):c.636G>C (p.Val212=)
|
rs1581671232
|
0.00001
|
NM_000410.4(HFE):c.660G>A (p.Val220=)
|
rs1293837185
|
0.00001
|
NM_000410.4(HFE):c.699G>A (p.Gln233=)
|
rs769080664
|
0.00001
|
NM_000410.4(HFE):c.747G>A (p.Lys249=)
|
rs747277009
|
0.00001
|
NM_000410.4(HFE):c.753C>T (p.Phe251=)
|
rs150402693
|
0.00001
|
NM_000410.4(HFE):c.76+2T>C
|
rs776994377
|
0.00001
|
NM_000410.4(HFE):c.76+8C>T
|
rs1354115687
|
0.00001
|
NM_000410.4(HFE):c.765C>T (p.Asp255=)
|
rs777622145
|
0.00001
|
NM_000410.4(HFE):c.766G>A (p.Val256Ile)
|
rs202068193
|
0.00001
|
NM_000410.4(HFE):c.842C>T (p.Thr281Met)
|
rs915273578
|
0.00001
|
NM_000410.4(HFE):c.84C>T (p.His28=)
|
rs766876606
|
0.00001
|
NM_000410.4(HFE):c.87T>C (p.Ser29=)
|
rs772911078
|
0.00001
|
NM_000410.4(HFE):c.913C>T (p.Leu305=)
|
rs571150642
|
0.00001
|
NC_000006.11:g.(?_26087669)_(26091837_?)del
|
|
|
NC_000006.11:g.(?_26087669)_(26094454_?)del
|
|
|
NM_000410.4(HFE):c.1002T>C (p.Gly334=)
|
|
|
NM_000410.4(HFE):c.1006+17G>A
|
|
|
NM_000410.4(HFE):c.1006+19del
|
|
|
NM_000410.4(HFE):c.1006+9G>A
|
rs2113764431
|
|
NM_000410.4(HFE):c.1006+9del
|
|
|
NM_000410.4(HFE):c.1007-5C>T
|
rs1158567861
|
|
NM_000410.4(HFE):c.1007-8C>T
|
|
|
NM_000410.4(HFE):c.1015_1016insG (p.Met339fs)
|
|
|
NM_000410.4(HFE):c.1022_1034del (p.His341fs)
|
rs1199530060
|
|
NM_000410.4(HFE):c.1035T>A (p.Ala345=)
|
|
|
NM_000410.4(HFE):c.107G>A (p.Gly36Asp)
|
rs1364493082
|
|
NM_000410.4(HFE):c.123C>T (p.Asp41=)
|
|
|
NM_000410.4(HFE):c.129T>G (p.Gly43=)
|
|
|
NM_000410.4(HFE):c.136T>C (p.Leu46=)
|
rs1205608152
|
|
NM_000410.4(HFE):c.141T>C (p.Phe47=)
|
rs2113749662
|
|
NM_000410.4(HFE):c.165C>T (p.Asp55=)
|
rs2113749837
|
|
NM_000410.4(HFE):c.171G>C (p.Leu57=)
|
rs1398948148
|
|
NM_000410.4(HFE):c.182A>G (p.Tyr61Cys)
|
rs1684658845
|
|
NM_000410.4(HFE):c.192G>A (p.Glu64=)
|
rs556335391
|
|
NM_000410.4(HFE):c.199C>T (p.Arg67Cys)
|
|
|
NM_000410.4(HFE):c.201T>C (p.Arg67=)
|
|
|
NM_000410.4(HFE):c.228C>T (p.Ser76=)
|
rs62625342
|
|
NM_000410.4(HFE):c.23C>T (p.Ala8Val)
|
|
|
NM_000410.4(HFE):c.24G>C (p.Ala8=)
|
|
|
NM_000410.4(HFE):c.278G>T (p.Gly93Val)
|
|
|
NM_000410.4(HFE):c.279G>C (p.Gly93=)
|
|
|
NM_000410.4(HFE):c.279del (p.Trp94fs)
|
rs773296212
|
|
NM_000410.4(HFE):c.313A>G (p.Ile105Val)
|
|
|
NM_000410.4(HFE):c.314T>G (p.Ile105Ser)
|
|
|
NM_000410.4(HFE):c.340+12G>A
|
|
|
NM_000410.4(HFE):c.340+19T>C
|
|
|
NM_000410.4(HFE):c.341-11G>A
|
|
|
NM_000410.4(HFE):c.341-12G>A
|
|
|
NM_000410.4(HFE):c.341-17G>C
|
|
|
NM_000410.4(HFE):c.341-1G>A
|
rs1762684254
|
|
NM_000410.4(HFE):c.341-4C>G
|
|
|
NM_000410.4(HFE):c.345C>A (p.Ser115=)
|
rs1581667723
|
|
NM_000410.4(HFE):c.36G>C (p.Leu12=)
|
|
|
NM_000410.4(HFE):c.396C>G (p.Thr132=)
|
|
|
NM_000410.4(HFE):c.407G>A (p.Trp136Ter)
|
|
|
NM_000410.4(HFE):c.414C>G (p.Tyr138Ter)
|
rs780563614
|
|
NM_000410.4(HFE):c.417G>C (p.Gly139=)
|
|
|
NM_000410.4(HFE):c.432C>T (p.Asp144=)
|
|
|
NM_000410.4(HFE):c.43T>C (p.Leu15=)
|
|
|
NM_000410.4(HFE):c.457C>T (p.Leu153=)
|
rs2113753137
|
|
NM_000410.4(HFE):c.474A>G (p.Ala158=)
|
rs1581668131
|
|
NM_000410.4(HFE):c.480del (p.Arg161fs)
|
rs777018511
|
|
NM_000410.4(HFE):c.486C>G (p.Ala162=)
|
|
|
NM_000410.4(HFE):c.492C>T (p.Pro164=)
|
|
|
NM_000410.4(HFE):c.502G>T (p.Glu168Ter)
|
rs146519482
|
|
NM_000410.4(HFE):c.504G>A (p.Glu168=)
|
rs1447606213
|
|
NM_000410.4(HFE):c.513G>A (p.Arg171=)
|
rs2113753629
|
|
NM_000410.4(HFE):c.525G>A (p.Arg175=)
|
|
|
NM_000410.4(HFE):c.525G>C (p.Arg175=)
|
|
|
NM_000410.4(HFE):c.546C>A (p.Tyr182Ter)
|
|
|
NM_000410.4(HFE):c.548T>C (p.Leu183Pro)
|
|
|
NM_000410.4(HFE):c.54G>A (p.Ala18=)
|
|
|
NM_000410.4(HFE):c.54G>C (p.Ala18=)
|
|
|
NM_000410.4(HFE):c.568C>T (p.Gln190Ter)
|
|
|
NM_000410.4(HFE):c.582G>A (p.Leu194=)
|
|
|
NM_000410.4(HFE):c.585G>A (p.Leu195=)
|
|
|
NM_000410.4(HFE):c.588G>A (p.Glu196=)
|
rs2113754094
|
|
NM_000410.4(HFE):c.604T>C (p.Leu202=)
|
|
|
NM_000410.4(HFE):c.610C>T (p.Gln204Ter)
|
|
|
NM_000410.4(HFE):c.616+13C>T
|
|
|
NM_000410.4(HFE):c.616+15C>T
|
|
|
NM_000410.4(HFE):c.616+18T>G
|
|
|
NM_000410.4(HFE):c.616+1G>T
|
|
|
NM_000410.4(HFE):c.616+9G>T
|
|
|
NM_000410.4(HFE):c.617-11T>C
|
|
|
NM_000410.4(HFE):c.622C>A (p.Pro208Thr)
|
rs866376221
|
|
NM_000410.4(HFE):c.626del (p.Leu209fs)
|
rs1762806344
|
|
NM_000410.4(HFE):c.663C>A (p.Thr221=)
|
|
|
NM_000410.4(HFE):c.663del (p.Thr222fs)
|
|
|
NM_000410.4(HFE):c.667C>T (p.Leu223=)
|
|
|
NM_000410.4(HFE):c.669A>G (p.Leu223=)
|
|
|
NM_000410.4(HFE):c.675T>C (p.Cys225=)
|
|
|
NM_000410.4(HFE):c.679G>C (p.Ala227Pro)
|
|
|
NM_000410.4(HFE):c.693C>T (p.Tyr231=)
|
|
|
NM_000410.4(HFE):c.708C>T (p.Thr236=)
|
rs2113761105
|
|
NM_000410.4(HFE):c.712A>T (p.Lys238Ter)
|
|
|
NM_000410.4(HFE):c.714G>A (p.Lys238=)
|
rs2113761169
|
|
NM_000410.4(HFE):c.720G>A (p.Leu240=)
|
|
|
NM_000410.4(HFE):c.720G>C (p.Leu240=)
|
rs1309004246
|
|
NM_000410.4(HFE):c.720_726dup (p.Lys243delinsGluGlyTer)
|
|
|
NM_000410.4(HFE):c.726T>C (p.Asp242=)
|
|
|
NM_000410.4(HFE):c.727A>G (p.Lys243Glu)
|
|
|
NM_000410.4(HFE):c.742G>A (p.Ala248Thr)
|
|
|
NM_000410.4(HFE):c.744C>A (p.Ala248=)
|
|
|
NM_000410.4(HFE):c.759T>A (p.Pro253=)
|
|
|
NM_000410.4(HFE):c.76+12G>A
|
|
|
NM_000410.4(HFE):c.76+13G>A
|
|
|
NM_000410.4(HFE):c.76+15T>G
|
|
|
NM_000410.4(HFE):c.76+17C>T
|
|
|
NM_000410.4(HFE):c.76+20G>A
|
|
|
NM_000410.4(HFE):c.76+20G>C
|
|
|
NM_000410.4(HFE):c.76+8C>A
|
|
|
NM_000410.4(HFE):c.76+9G>T
|
rs2113726940
|
|
NM_000410.4(HFE):c.760A>T (p.Lys254Ter)
|
|
|
NM_000410.4(HFE):c.762del (p.Asp255fs)
|
rs1554154042
|
|
NM_000410.4(HFE):c.769T>C (p.Leu257=)
|
rs2113761641
|
|
NM_000410.4(HFE):c.77-5T>C
|
|
|
NM_000410.4(HFE):c.780G>A (p.Gly260=)
|
|
|
NM_000410.4(HFE):c.792C>T (p.Tyr264=)
|
rs780246573
|
|
NM_000410.4(HFE):c.798C>A (p.Gly266=)
|
rs768801919
|
|
NM_000410.4(HFE):c.819C>T (p.Pro273=)
|
|
|
NM_000410.4(HFE):c.832C>T (p.Gln278Ter)
|
|
|
NM_000410.4(HFE):c.840T>A (p.Tyr280Ter)
|
|
|
NM_000410.4(HFE):c.840T>C (p.Tyr280=)
|
rs1190990892
|
|
NM_000410.4(HFE):c.848A>C (p.Gln283Pro)
|
rs111033563
|
|
NM_000410.4(HFE):c.849G>A (p.Gln283=)
|
rs763692495
|
|
NM_000410.4(HFE):c.861A>G (p.Pro287=)
|
|
|
NM_000410.4(HFE):c.876C>T (p.Pro292=)
|
|
|
NM_000410.4(HFE):c.892+1G>T
|
rs1762833218
|
|
NM_000410.4(HFE):c.892+7G>A
|
rs2113762728
|
|
NM_000410.4(HFE):c.893-1G>C
|
|
|
NM_000410.4(HFE):c.893-8T>C
|
|
|
NM_000410.4(HFE):c.894G>A (p.Glu298=)
|
rs114038675
|
|
NM_000410.4(HFE):c.903G>C (p.Pro301=)
|
rs372856303
|
|
NM_000410.4(HFE):c.903G>T (p.Pro301=)
|
rs372856303
|
|
NM_000410.4(HFE):c.912C>G (p.Thr304=)
|
|
|
NM_000410.4(HFE):c.951C>T (p.Val317=)
|
|
|
NM_000410.4(HFE):c.957C>T (p.Ile319=)
|
|
|
NM_000410.4(HFE):c.965T>C (p.Ile322Thr)
|
|
|
NM_000410.4(HFE):c.968del (p.Gly323fs)
|
rs766108842
|
|
NM_000410.4(HFE):c.978C>T (p.Phe326=)
|
rs1581673132
|
|
NM_000410.4(HFE):c.99C>T (p.Leu33=)
|
|
|