NM_001111.5(ADAR):c.78G>A (p.Arg26=)
|
rs1802645
|
0.99723
|
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)
|
rs1466731
|
0.99604
|
NM_015474.4(SAMHD1):c.208+158A>G
|
rs6030389
|
0.90232
|
NM_032193.4(RNASEH2C):c.*1527A>C
|
rs521678
|
0.88416
|
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg)
|
rs3747517
|
0.68382
|
NM_033629.6(TREX1):c.531T>C (p.Tyr177=)
|
rs11797
|
0.62991
|
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)
|
rs2229857
|
0.61729
|
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr)
|
rs1990760
|
0.44895
|
NM_015474.4(SAMHD1):c.276-105C>A
|
rs6030312
|
0.44115
|
NM_001111.5(ADAR):c.3443+8G>A
|
rs9427094
|
0.40966
|
NM_032193.4(RNASEH2C):c.*1917T>C
|
rs535111
|
0.37725
|
NM_130384.3(ATRIP):c.*1632=
|
rs11797
|
0.37009
|
NM_032193.4(RNASEH2C):c.*2036C>T
|
rs3372
|
0.30708
|
NM_001111.5(ADAR):c.2682G>A (p.Val894=)
|
rs1127309
|
0.29372
|
NM_001111.5(ADAR):c.15+10G>T
|
rs58655370
|
0.27999
|
NM_022168.4(IFIH1):c.2616+11T>C
|
rs3747518
|
0.16097
|
NM_130384.3(ATRIP):c.*714T>C
|
rs3135941
|
0.13734
|
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=)
|
rs13418718
|
0.10215
|
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg)
|
rs10930046
|
0.09666
|
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=)
|
rs11554400
|
0.06936
|
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser)
|
rs7247284
|
0.06918
|
NM_006397.3(RNASEH2A):c.550-11T>C
|
rs7247253
|
0.06913
|
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=)
|
rs7257575
|
0.06903
|
NM_006397.3(RNASEH2A):c.637+13G>A
|
rs73503453
|
0.05671
|
NM_080628.3(TLDC2):c.*18-559G>A
|
rs8124728
|
0.05345
|
NM_033629.6(TREX1):c.912G>A (p.Leu304=)
|
rs3135945
|
0.04049
|
NM_032193.4(RNASEH2C):c.*1776C>T
|
rs4645936
|
0.03991
|
NM_130384.3(ATRIP):c.*2083T>C
|
rs3135946
|
0.03909
|
NM_006397.3(RNASEH2A):c.-16T>C
|
rs1046220
|
0.03226
|
NM_032193.4(RNASEH2C):c.*2097C>T
|
rs4645934
|
0.03137
|
NM_024570.4(RNASEH2B):c.-210G>C
|
rs112702177
|
0.02962
|
NM_022168.4(IFIH1):c.2305-19T>C
|
rs74162085
|
0.02187
|
NM_022168.4(IFIH1):c.2455-7T>A
|
rs41399348
|
0.02185
|
NM_022168.4(IFIH1):c.2454+6T>C
|
rs6748554
|
0.02184
|
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=)
|
rs76634951
|
0.02157
|
NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu)
|
rs62619782
|
0.01693
|
NM_006397.3(RNASEH2A):c.*120C>T
|
rs73925216
|
0.01285
|
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val)
|
rs35667974
|
0.01195
|
NM_024570.4(RNASEH2B):c.189A>G (p.Val63=)
|
rs35595258
|
0.01095
|
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)
|
rs17843865
|
0.01046
|
NM_032193.4(RNASEH2C):c.*1007C>G
|
rs112903919
|
0.01000
|
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=)
|
rs35416748
|
0.00984
|
NM_032193.4(RNASEH2C):c.*1295T>C
|
rs4645937
|
0.00847
|
NM_022168.4(IFIH1):c.177T>C (p.Val59=)
|
rs115500208
|
0.00826
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_024570.4(RNASEH2B):c.822+6T>C
|
rs76413207
|
0.00705
|
NM_024570.4(RNASEH2B):c.-112C>T
|
rs184573722
|
0.00678
|
NM_130384.3(ATRIP):c.*722C>T
|
rs2279076
|
0.00673
|
NM_033629.6(TREX1):c.462T>C (p.Asp154=)
|
rs3135944
|
0.00613
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
NM_080628.3(TLDC2):c.*18-218T>C
|
rs114791229
|
0.00502
|
NM_033629.6(TREX1):c.198G>A (p.Lys66=)
|
rs3135943
|
0.00490
|
NM_080628.3(TLDC2):c.*28T>C
|
rs45595032
|
0.00466
|
NM_022168.4(IFIH1):c.258C>G (p.Thr86=)
|
rs143870870
|
0.00424
|
NM_080628.3(TLDC2):c.*18-938G>C
|
rs116489517
|
0.00406
|
NM_080628.3(TLDC2):c.*43G>A
|
rs115645414
|
0.00402
|
NM_001111.5(ADAR):c.298= (p.Arg100=)
|
rs1466731
|
0.00396
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_130384.3(ATRIP):c.*267T>C
|
rs148393533
|
0.00332
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
NM_006397.3(RNASEH2A):c.412-6T>G
|
rs192358167
|
0.00277
|
NM_001111.5(ADAR):c.2668+20A>C
|
rs115805812
|
0.00266
|
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)
|
rs72650663
|
0.00253
|
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)
|
rs147240777
|
0.00252
|
NM_080628.3(TLDC2):c.*18-170C>T
|
rs143588093
|
0.00244
|
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)
|
rs74162089
|
0.00240
|
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe)
|
rs34154757
|
0.00235
|
NM_032193.4(RNASEH2C):c.*1699G>C
|
rs149989742
|
0.00233
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_080628.3(TLDC2):c.*18-1G>T
|
rs138927042
|
0.00229
|
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val)
|
rs147000317
|
0.00228
|
NM_130384.3(ATRIP):c.*655G>C
|
rs577465983
|
0.00222
|
NM_022168.4(IFIH1):c.2899-4C>T
|
rs114541610
|
0.00220
|
NM_006397.3(RNASEH2A):c.*123G>A
|
rs533069935
|
0.00215
|
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile)
|
rs140562355
|
0.00214
|
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)
|
rs148369169
|
0.00207
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_015474.4(SAMHD1):c.348+18T>G
|
rs181987130
|
0.00206
|
NM_032193.4(RNASEH2C):c.*542G>A
|
rs186106053
|
0.00206
|
NM_015474.3(SAMHD1):c.-166G>T
|
rs546207604
|
0.00197
|
NM_022168.4(IFIH1):c.427C>T (p.Leu143=)
|
rs143902922
|
0.00192
|
NM_015474.3(SAMHD1):c.-110T>C
|
rs28372906
|
0.00188
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_032193.4(RNASEH2C):c.468+13G>A
|
rs182000627
|
0.00178
|
NM_024570.4(RNASEH2B):c.*246A>G
|
rs147825612
|
0.00166
|
NM_001142279.2(RNASEH2B):c.-399C>G
|
rs553965425
|
0.00165
|
NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=)
|
rs145176499
|
0.00163
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala)
|
rs138057665
|
0.00162
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
NM_006397.3(RNASEH2A):c.-49C>T
|
rs375281767
|
0.00146
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_001111.5(ADAR):c.2079+8G>A
|
rs376867928
|
0.00139
|
NM_080628.3(TLDC2):c.*18-435A>T
|
rs747128919
|
0.00139
|
NM_001111.5(ADAR):c.1926T>C (p.His642=)
|
rs150171059
|
0.00135
|
NM_001111.5(ADAR):c.2668+6T>C
|
rs190881240
|
0.00135
|
NM_032193.4(RNASEH2C):c.-10A>G
|
rs77371161
|
0.00135
|
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)
|
rs144408326
|
0.00132
|
NM_032193.4(RNASEH2C):c.*1017G>A
|
rs4645938
|
0.00130
|
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val)
|
rs146721166
|
0.00129
|
NM_001111.5(ADAR):c.2886-11_2886-10del
|
rs557801982
|
0.00128
|
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu)
|
rs140977021
|
0.00121
|
NM_024570.4(RNASEH2B):c.203A>G (p.Glu68Gly)
|
rs148811739
|
0.00118
|
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)
|
rs144455277
|
0.00113
|
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)
|
rs72650664
|
0.00111
|
NM_032193.4(RNASEH2C):c.*317C>T
|
rs549238084
|
0.00110
|
NM_130384.3(ATRIP):c.*665C>T
|
rs548710061
|
0.00108
|
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)
|
rs35102927
|
0.00102
|
NM_001111.5(ADAR):c.1935-19G>A
|
rs200651742
|
0.00101
|
NM_024570.4(RNASEH2B):c.-117C>G
|
rs553446261
|
0.00094
|
NM_015474.4(SAMHD1):c.275+8T>A
|
rs186225001
|
0.00086
|
NM_022168.4(IFIH1):c.1642-19G>A
|
rs189341467
|
0.00082
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=)
|
rs147131347
|
0.00078
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
NM_022168.4(IFIH1):c.623-19C>G
|
rs371045477
|
0.00078
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln)
|
rs143029477
|
0.00075
|
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)
|
rs72556555
|
0.00073
|
NM_022168.4(IFIH1):c.2898+17G>A
|
rs145381408
|
0.00068
|
NM_006397.3(RNASEH2A):c.417C>T (p.Phe139=)
|
rs201413125
|
0.00067
|
NM_032193.4(RNASEH2C):c.*295C>T
|
rs538167829
|
0.00067
|
NM_032193.4(RNASEH2C):c.*1594G>A
|
rs761492773
|
0.00064
|
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=)
|
rs151241634
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_022168.4(IFIH1):c.2784C>T (p.His928=)
|
rs145187664
|
0.00060
|
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu)
|
rs144274375
|
0.00054
|
NM_001111.5(ADAR):c.1125C>T (p.Thr375=)
|
rs145166589
|
0.00053
|
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met)
|
rs141049110
|
0.00053
|
NM_032193.4(RNASEH2C):c.*456G>A
|
rs561937926
|
0.00053
|
NM_024570.4(RNASEH2B):c.-228C>A
|
rs577725827
|
0.00051
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00051
|
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)
|
rs142348767
|
0.00049
|
NM_001111.5(ADAR):c.518A>G (p.Asn173Ser)
|
rs201331183
|
0.00048
|
NM_006397.3(RNASEH2A):c.199+9G>C
|
rs370775997
|
0.00048
|
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
|
rs112741962
|
0.00047
|
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)
|
rs200721645
|
0.00043
|
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)
|
rs150363383
|
0.00043
|
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=)
|
rs146625055
|
0.00042
|
NM_006397.3(RNASEH2A):c.323+17A>C
|
rs368719908
|
0.00041
|
NM_006397.3(RNASEH2A):c.374T>C (p.Ile125Thr)
|
rs150008398
|
0.00041
|
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)
|
rs145735112
|
0.00041
|
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)
|
rs145520044
|
0.00041
|
NM_032193.4(RNASEH2C):c.*363C>T
|
rs547082810
|
0.00040
|
NM_001111.5(ADAR):c.2052G>A (p.Ala684=)
|
rs148041309
|
0.00039
|
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg)
|
rs201143561
|
0.00039
|
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)
|
rs150713148
|
0.00039
|
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=)
|
rs149267802
|
0.00039
|
NM_006397.3(RNASEH2A):c.*16G>T
|
rs199696470
|
0.00038
|
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)
|
rs143534021
|
0.00038
|
NM_015474.4(SAMHD1):c.-31T>C
|
rs142162198
|
0.00038
|
NM_015474.4(SAMHD1):c.-39C>A
|
rs368233437
|
0.00038
|
NM_080628.3(TLDC2):c.*18-25A>G
|
rs147220022
|
0.00038
|
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=)
|
rs140804613
|
0.00034
|
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=)
|
rs147175706
|
0.00034
|
NM_033629.6(TREX1):c.183G>A (p.Pro61=)
|
rs55852466
|
0.00034
|
NM_001111.5(ADAR):c.2349A>G (p.Glu783=)
|
rs77988942
|
0.00033
|
NM_006397.3(RNASEH2A):c.411+17T>A
|
rs185730742
|
0.00031
|
NM_022168.4(IFIH1):c.103C>T (p.Leu35=)
|
rs75342243
|
0.00031
|
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val)
|
rs758387388
|
0.00031
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_001111.5(ADAR):c.1845C>T (p.Pro615=)
|
rs200560244
|
0.00029
|
NM_006397.3(RNASEH2A):c.747G>A (p.Ala249=)
|
rs144494263
|
0.00029
|
NM_015474.4(SAMHD1):c.1411-18G>A
|
rs373910542
|
0.00029
|
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile)
|
rs144353824
|
0.00029
|
NM_024570.4(RNASEH2B):c.762G>A (p.Glu254=)
|
rs146378238
|
0.00029
|
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn)
|
rs201190805
|
0.00029
|
NM_032193.4(RNASEH2C):c.*1737C>T
|
rs886048487
|
0.00029
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_022168.4(IFIH1):c.2304+3A>G
|
rs376806735
|
0.00027
|
NM_001111.5(ADAR):c.126G>A (p.Lys42=)
|
rs150322339
|
0.00026
|
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=)
|
rs200856791
|
0.00026
|
NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu)
|
rs74162090
|
0.00026
|
NM_022168.4(IFIH1):c.420G>A (p.Glu140=)
|
rs74162073
|
0.00026
|
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)
|
rs200833729
|
0.00025
|
NM_024570.4(RNASEH2B):c.788C>G (p.Thr263Ser)
|
rs183734174
|
0.00025
|
NM_033629.6(TREX1):c.339G>A (p.Arg113=)
|
rs56400532
|
0.00025
|
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His)
|
rs74162087
|
0.00024
|
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly)
|
rs74162074
|
0.00024
|
NM_032193.4(RNASEH2C):c.393G>A (p.Leu131=)
|
rs138181714
|
0.00024
|
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly)
|
rs145652884
|
0.00022
|
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=)
|
rs200947696
|
0.00022
|
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser)
|
rs373169862
|
0.00021
|
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu)
|
rs117608083
|
0.00021
|
NM_022168.4(IFIH1):c.1642-20A>C
|
rs191343755
|
0.00021
|
NM_022168.4(IFIH1):c.1766-3C>T
|
rs183649893
|
0.00021
|
NM_022168.4(IFIH1):c.453+5G>C
|
rs548027236
|
0.00021
|
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala)
|
rs201078944
|
0.00020
|
NM_001111.5(ADAR):c.1887C>G (p.Ser629=)
|
rs747820726
|
0.00019
|
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=)
|
rs374488772
|
0.00019
|
NM_024570.4(RNASEH2B):c.64+8C>T
|
rs957777357
|
0.00018
|
NM_032193.4(RNASEH2C):c.*1977C>T
|
rs886048482
|
0.00018
|
NM_001111.5(ADAR):c.2496+9G>A
|
rs199698434
|
0.00017
|
NM_022168.4(IFIH1):c.1765G>A (p.Ala589Thr)
|
rs150760072
|
0.00017
|
NM_130384.3(ATRIP):c.*583A>G
|
rs767364235
|
0.00017
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
NM_006397.3(RNASEH2A):c.857G>A (p.Arg286Gln)
|
rs778842661
|
0.00016
|
NM_022168.4(IFIH1):c.1096-3A>G
|
rs373969191
|
0.00016
|
NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala)
|
rs145641024
|
0.00016
|
NM_022168.4(IFIH1):c.2454+9A>G
|
rs193149001
|
0.00016
|
NM_032193.4(RNASEH2C):c.*385C>A
|
rs757672652
|
0.00016
|
NM_032193.4(RNASEH2C):c.*440G>C
|
rs544558074
|
0.00016
|
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu)
|
rs200659526
|
0.00016
|
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met)
|
rs772347588
|
0.00016
|
NM_032193.4(RNASEH2C):c.348+18G>A
|
rs372964595
|
0.00016
|
NM_006397.3(RNASEH2A):c.550-6C>T
|
rs759687766
|
0.00015
|
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile)
|
rs200389061
|
0.00015
|
NM_032193.4(RNASEH2C):c.*747G>A
|
rs201326733
|
0.00015
|
NM_001111.5(ADAR):c.1725C>T (p.Ala575=)
|
rs144279106
|
0.00014
|
NM_001111.5(ADAR):c.2497-15C>T
|
rs113249520
|
0.00014
|
NM_001111.5(ADAR):c.3375C>T (p.Ser1125=)
|
rs774730059
|
0.00014
|
NM_006397.3(RNASEH2A):c.200-8C>T
|
rs370810663
|
0.00014
|
NM_022168.4(IFIH1):c.1407T>C (p.Asn469=)
|
rs138740030
|
0.00014
|
NM_001111.5(ADAR):c.1934+8C>T
|
rs376025865
|
0.00013
|
NM_006397.3(RNASEH2A):c.653C>T (p.Ala218Val)
|
rs112503877
|
0.00013
|
NM_006397.3(RNASEH2A):c.741A>G (p.Lys247=)
|
rs140320292
|
0.00013
|
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg)
|
rs760066036
|
0.00013
|
NM_022168.4(IFIH1):c.1797T>C (p.Val599=)
|
rs751095720
|
0.00013
|
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=)
|
rs118172671
|
0.00013
|
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)
|
rs551573692
|
0.00013
|
NM_032193.4(RNASEH2C):c.*1658G>C
|
rs886048488
|
0.00013
|
NM_001111.5(ADAR):c.1935-20C>T
|
rs17843867
|
0.00012
|
NM_006397.3(RNASEH2A):c.127+14G>T
|
rs758619313
|
0.00012
|
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)
|
rs142393072
|
0.00012
|
NM_022168.4(IFIH1):c.2133A>G (p.Gln711=)
|
rs368922101
|
0.00012
|
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met)
|
rs773526836
|
0.00012
|
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)
|
rs370504038
|
0.00012
|
NM_001111.5(ADAR):c.2274C>T (p.Phe758=)
|
rs149039619
|
0.00011
|
NM_001111.5(ADAR):c.2952A>G (p.Thr984=)
|
rs765649485
|
0.00011
|
NM_001111.5(ADAR):c.3401A>G (p.Tyr1134Cys)
|
rs150284449
|
0.00011
|
NM_006397.3(RNASEH2A):c.199+8C>G
|
rs200834484
|
0.00011
|
NM_006397.3(RNASEH2A):c.366T>G (p.Thr122=)
|
rs752467571
|
0.00011
|
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)
|
rs375139492
|
0.00011
|
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)
|
rs202024857
|
0.00011
|
NM_015474.4(SAMHD1):c.697-11A>G
|
rs200458478
|
0.00011
|
NM_022168.4(IFIH1):c.1096-13A>G
|
rs368712508
|
0.00011
|
NM_022168.4(IFIH1):c.1524+19T>C
|
rs374493449
|
0.00011
|
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)
|
rs200945986
|
0.00011
|
NM_022168.4(IFIH1):c.2807+20T>C
|
rs370508451
|
0.00011
|
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln)
|
rs988134864
|
0.00011
|
NM_024570.4(RNASEH2B):c.564G>C (p.Arg188=)
|
rs141367253
|
0.00011
|
NM_033629.6(TREX1):c.120C>T (p.His40=)
|
rs758622317
|
0.00011
|
NM_001111.5(ADAR):c.222G>A (p.Arg74=)
|
rs150423721
|
0.00010
|
NM_001111.5(ADAR):c.2886-10T>C
|
rs771848908
|
0.00010
|
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)
|
rs139471471
|
0.00010
|
NM_006397.3(RNASEH2A):c.128-13C>T
|
rs201345414
|
0.00010
|
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln)
|
rs770044946
|
0.00010
|
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)
|
rs139714761
|
0.00010
|
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=)
|
rs781523339
|
0.00010
|
NM_022168.4(IFIH1):c.2198C>T (p.Ala733Val)
|
rs200251981
|
0.00010
|
NM_022168.4(IFIH1):c.2316A>T (p.Lys772Asn)
|
rs761635157
|
0.00010
|
NM_022168.4(IFIH1):c.2317del (p.Glu773fs)
|
rs746375033
|
0.00010
|
NM_022168.4(IFIH1):c.2861A>G (p.Tyr954Cys)
|
rs116508532
|
0.00010
|
NM_022168.4(IFIH1):c.906G>A (p.Pro302=)
|
rs775441863
|
0.00010
|
NM_024570.4(RNASEH2B):c.549G>A (p.Val183=)
|
rs760862553
|
0.00010
|
NM_033629.6(TREX1):c.312G>C (p.Leu104=)
|
rs56162833
|
0.00010
|
NM_033629.6(TREX1):c.843C>T (p.Ala281=)
|
rs200719301
|
0.00010
|
NM_001111.5(ADAR):c.1392T>C (p.Asn464=)
|
rs370763473
|
0.00009
|
NM_001111.5(ADAR):c.1851C>A (p.Thr617=)
|
rs764879657
|
0.00009
|
NM_001111.5(ADAR):c.2762+6C>T
|
rs371450928
|
0.00009
|
NM_001111.5(ADAR):c.865G>A (p.Asp289Asn)
|
rs372242904
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)
|
rs371992324
|
0.00009
|
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys)
|
rs199896513
|
0.00009
|
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His)
|
rs147891080
|
0.00009
|
NM_015474.4(SAMHD1):c.696+14C>T
|
rs145884935
|
0.00009
|
NM_022168.4(IFIH1):c.2138C>G (p.Thr713Ser)
|
rs201841403
|
0.00009
|
NM_022168.4(IFIH1):c.454-1G>T
|
rs148590996
|
0.00009
|
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)
|
rs374205118
|
0.00009
|
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys)
|
rs180843163
|
0.00009
|
NM_024570.4(RNASEH2B):c.*76T>A
|
rs750903767
|
0.00009
|
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln)
|
rs138649673
|
0.00009
|
NM_033629.6(TREX1):c.504C>G (p.Pro168=)
|
rs747052975
|
0.00009
|
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
|
rs146524913
|
0.00009
|
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg)
|
rs776094274
|
0.00009
|
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)
|
rs769885715
|
0.00009
|
NM_080628.3(TLDC2):c.*18-292C>T
|
rs886056646
|
0.00009
|
NM_001111.5(ADAR):c.2976C>T (p.Phe992=)
|
rs552926126
|
0.00008
|
NM_015474.4(SAMHD1):c.697-13T>C
|
rs368766286
|
0.00008
|
NM_022168.4(IFIH1):c.1041A>C (p.Leu347Phe)
|
rs183412282
|
0.00008
|
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val)
|
rs143523027
|
0.00008
|
NM_032193.4(RNASEH2C):c.349-12C>G
|
rs368723275
|
0.00008
|
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val)
|
rs145783593
|
0.00008
|
NM_033629.6(TREX1):c.486G>A (p.Leu162=)
|
rs55786737
|
0.00008
|
NM_001111.5(ADAR):c.16-7T>A
|
rs190022999
|
0.00007
|
NM_001111.5(ADAR):c.2313C>T (p.Ala771=)
|
rs538377634
|
0.00007
|
NM_001111.5(ADAR):c.3316-20G>A
|
rs781024893
|
0.00007
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
NM_006397.3(RNASEH2A):c.455G>A (p.Arg152Gln)
|
rs757486362
|
0.00007
|
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)
|
rs775762131
|
0.00007
|
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)
|
rs374642075
|
0.00007
|
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)
|
rs200017837
|
0.00007
|
NM_022168.4(IFIH1):c.2044+2T>C
|
rs201026962
|
0.00007
|
NM_022168.4(IFIH1):c.2232T>A (p.Phe744Leu)
|
rs201142986
|
0.00007
|
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=)
|
rs35677292
|
0.00007
|
NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr)
|
rs745487097
|
0.00007
|
NM_022168.4(IFIH1):c.2919G>C (p.Val973=)
|
rs376116707
|
0.00007
|
NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr)
|
rs763103642
|
0.00007
|
NM_024570.4(RNASEH2B):c.822+16T>C
|
rs750179605
|
0.00007
|
NM_032193.3(RNASEH2C):c.-186A>C
|
rs931060333
|
0.00007
|
NM_032193.4(RNASEH2C):c.*1621A>G
|
rs373799308
|
0.00007
|
NM_033629.6(TREX1):c.651G>A (p.Arg217=)
|
rs140199177
|
0.00007
|
NM_001111.5(ADAR):c.1107G>A (p.Thr369=)
|
rs181731036
|
0.00006
|
NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp)
|
rs371050239
|
0.00006
|
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro)
|
rs142884797
|
0.00006
|
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)
|
rs373667326
|
0.00006
|
NM_001111.5(ADAR):c.176A>G (p.Lys59Arg)
|
rs756612053
|
0.00006
|
NM_001111.5(ADAR):c.1875A>G (p.Lys625=)
|
rs771871176
|
0.00006
|
NM_001111.5(ADAR):c.2250C>T (p.Ser750=)
|
rs746605003
|
0.00006
|
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)
|
rs145849344
|
0.00006
|
NM_001111.5(ADAR):c.2895G>A (p.Pro965=)
|
rs149207057
|
0.00006
|
NM_001111.5(ADAR):c.3019+19C>T
|
rs765520247
|
0.00006
|
NM_001111.5(ADAR):c.3171G>A (p.Leu1057=)
|
rs149496690
|
0.00006
|
NM_001111.5(ADAR):c.3363T>A (p.Thr1121=)
|
rs373934702
|
0.00006
|
NM_001111.5(ADAR):c.57C>T (p.Gly19=)
|
rs137983302
|
0.00006
|
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln)
|
rs371476324
|
0.00006
|
NM_006397.3(RNASEH2A):c.108G>A (p.Ala36=)
|
rs774063653
|
0.00006
|
NM_006397.3(RNASEH2A):c.126G>C (p.Leu42=)
|
rs762363861
|
0.00006
|
NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly)
|
rs749085589
|
0.00006
|
NM_006397.3(RNASEH2A):c.223G>C (p.Glu75Gln)
|
rs753695101
|
0.00006
|
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala)
|
rs767046465
|
0.00006
|
NM_006397.3(RNASEH2A):c.426C>T (p.Thr142=)
|
rs376539482
|
0.00006
|
NM_006397.3(RNASEH2A):c.453G>A (p.Ala151=)
|
rs148346342
|
0.00006
|
NM_006397.3(RNASEH2A):c.638-9C>A
|
rs370005103
|
0.00006
|
NM_006397.3(RNASEH2A):c.838C>T (p.Arg280Cys)
|
rs375883546
|
0.00006
|
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys)
|
rs764614950
|
0.00006
|
NM_015474.4(SAMHD1):c.-10A>G
|
rs199721283
|
0.00006
|
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)
|
rs202165710
|
0.00006
|
NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)
|
rs139841806
|
0.00006
|
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=)
|
rs149098281
|
0.00006
|
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)
|
rs767413799
|
0.00006
|
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)
|
rs575678322
|
0.00006
|
NM_022168.4(IFIH1):c.1766-15T>C
|
rs374369372
|
0.00006
|
NM_022168.4(IFIH1):c.1784G>A (p.Arg595His)
|
rs74162084
|
0.00006
|
NM_022168.4(IFIH1):c.2043T>C (p.Phe681=)
|
rs148471793
|
0.00006
|
NM_022168.4(IFIH1):c.2106C>A (p.Thr702=)
|
rs774221500
|
0.00006
|
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser)
|
rs185928139
|
0.00006
|
NM_022168.4(IFIH1):c.2295C>A (p.Pro765=)
|
rs769746385
|
0.00006
|
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)
|
rs759430873
|
0.00006
|
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter)
|
rs201472224
|
0.00006
|
NM_022168.4(IFIH1):c.2549G>A (p.Arg850Gln)
|
rs370618144
|
0.00006
|
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
|
rs374202040
|
0.00006
|
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
|
rs202009944
|
0.00006
|
NM_022168.4(IFIH1):c.346C>A (p.Gln116Lys)
|
rs774468416
|
0.00006
|
NM_022168.4(IFIH1):c.371C>A (p.Thr124Asn)
|
rs768520868
|
0.00006
|
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys)
|
rs766508793
|
0.00006
|
NM_022168.4(IFIH1):c.453+17A>G
|
rs369707091
|
0.00006
|
NM_022168.4(IFIH1):c.769+17C>T
|
rs74162076
|
0.00006
|
NM_024570.4(RNASEH2B):c.244+3A>G
|
rs371461579
|
0.00006
|
NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu)
|
rs1340493334
|
0.00006
|
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg)
|
rs767086382
|
0.00006
|
NM_024570.4(RNASEH2B):c.742-20T>C
|
rs755138594
|
0.00006
|
NM_024570.4(RNASEH2B):c.823-16_823-15del
|
rs771820918
|
0.00006
|
NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg)
|
rs749003546
|
0.00006
|
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly)
|
rs773830258
|
0.00006
|
NM_033629.6(TREX1):c.168A>T (p.Thr56=)
|
rs770441459
|
0.00006
|
NM_033629.6(TREX1):c.219G>A (p.Pro73=)
|
rs778992418
|
0.00006
|
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp)
|
rs759594113
|
0.00006
|
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)
|
rs761651331
|
0.00006
|
NM_080628.3(TLDC2):c.*18-50G>A
|
rs188941712
|
0.00006
|
NM_130384.3(ATRIP):c.*495C>T
|
rs377157141
|
0.00006
|
NM_001111.5(ADAR):c.1400G>A (p.Arg467His)
|
rs192121167
|
0.00005
|
NM_001111.5(ADAR):c.1934+12G>A
|
rs776357782
|
0.00005
|
NM_001111.5(ADAR):c.2080C>T (p.Pro694Ser)
|
rs755535385
|
0.00005
|
NM_001111.5(ADAR):c.2611G>A (p.Ala871Thr)
|
rs769985255
|
0.00005
|
NM_001111.5(ADAR):c.3105C>T (p.Ser1035=)
|
rs769697484
|
0.00005
|
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)
|
rs367899281
|
0.00005
|
NM_001111.5(ADAR):c.582G>A (p.Leu194=)
|
rs762045154
|
0.00005
|
NM_001111.5(ADAR):c.768C>T (p.His256=)
|
rs752953697
|
0.00005
|
NM_006397.3(RNASEH2A):c.*68C>T
|
rs564029348
|
0.00005
|
NM_006397.3(RNASEH2A):c.127+16C>T
|
rs780296539
|
0.00005
|
NM_006397.3(RNASEH2A):c.323+20G>A
|
rs534725116
|
0.00005
|
NM_006397.3(RNASEH2A):c.550-17G>A
|
rs372001384
|
0.00005
|
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met)
|
rs370225385
|
0.00005
|
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=)
|
rs757642528
|
0.00005
|
NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=)
|
rs372533307
|
0.00005
|
NM_022168.4(IFIH1):c.1134A>T (p.Gln378His)
|
rs750443621
|
0.00005
|
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)
|
rs148540097
|
0.00005
|
NM_022168.4(IFIH1):c.1692T>C (p.Tyr564=)
|
rs376996345
|
0.00005
|
NM_022168.4(IFIH1):c.1694G>T (p.Cys565Phe)
|
rs560193080
|
0.00005
|
NM_022168.4(IFIH1):c.1716T>C (p.Asp572=)
|
rs760261449
|
0.00005
|
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)
|
rs766039450
|
0.00005
|
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=)
|
rs766027130
|
0.00005
|
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp)
|
rs550930413
|
0.00005
|
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter)
|
rs747926684
|
0.00005
|
NM_022168.4(IFIH1):c.261C>T (p.Gly87=)
|
rs775555538
|
0.00005
|
NM_022168.4(IFIH1):c.2811A>G (p.Glu937=)
|
rs759715693
|
0.00005
|
NM_022168.4(IFIH1):c.283A>G (p.Met95Val)
|
rs777534095
|
0.00005
|
NM_022168.4(IFIH1):c.858C>G (p.Thr286=)
|
rs567681295
|
0.00005
|
NM_024570.4(RNASEH2B):c.137-19G>C
|
rs201814710
|
0.00005
|
NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu)
|
rs190327832
|
0.00005
|
NM_032193.4(RNASEH2C):c.*1532G>A
|
rs376966597
|
0.00005
|
NM_032193.4(RNASEH2C):c.*541C>T
|
rs756513194
|
0.00005
|
NM_032193.4(RNASEH2C):c.69C>T (p.Asp23=)
|
rs749020058
|
0.00005
|
NM_033629.6(TREX1):c.1A>G (p.Met1Val)
|
rs761165865
|
0.00005
|
NM_033629.6(TREX1):c.24G>A (p.Pro8=)
|
rs147463121
|
0.00005
|
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)
|
rs201496629
|
0.00005
|
NM_033629.6(TREX1):c.387C>T (p.Tyr129=)
|
rs202025490
|
0.00005
|
NM_033629.6(TREX1):c.513C>T (p.His171=)
|
rs531660451
|
0.00005
|
NM_080628.3(TLDC2):c.*239dup
|
rs762361576
|
0.00005
|
NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln)
|
rs149091481
|
0.00004
|
NM_001111.5(ADAR):c.1137A>C (p.Ala379=)
|
rs757766736
|
0.00004
|
NM_001111.5(ADAR):c.1177A>G (p.Asn393Asp)
|
rs751288252
|
0.00004
|
NM_001111.5(ADAR):c.1401C>T (p.Arg467=)
|
rs765068066
|
0.00004
|
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr)
|
rs761708272
|
0.00004
|
NM_001111.5(ADAR):c.1466G>A (p.Arg489Gln)
|
rs751656552
|
0.00004
|
NM_001111.5(ADAR):c.15+9G>A
|
rs749243606
|
0.00004
|
NM_001111.5(ADAR):c.1559A>C (p.Glu520Ala)
|
rs916828871
|
0.00004
|
NM_001111.5(ADAR):c.165G>A (p.Pro55=)
|
rs570176840
|
0.00004
|
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala)
|
rs556625861
|
0.00004
|
NM_001111.5(ADAR):c.1867A>G (p.Met623Val)
|
rs1481646805
|
0.00004
|
NM_001111.5(ADAR):c.2241C>T (p.Val747=)
|
rs780746416
|
0.00004
|
NM_001111.5(ADAR):c.2314G>A (p.Val772Ile)
|
rs763229776
|
0.00004
|
NM_001111.5(ADAR):c.2319C>T (p.Cys773=)
|
rs750666914
|
0.00004
|
NM_001111.5(ADAR):c.2407G>T (p.Gly803Cys)
|
rs1277475981
|
0.00004
|
NM_001111.5(ADAR):c.2598C>G (p.Arg866=)
|
rs749389266
|
0.00004
|
NM_001111.5(ADAR):c.2649C>T (p.Val883=)
|
rs200989942
|
0.00004
|
NM_001111.5(ADAR):c.2762+10G>A
|
rs879809934
|
0.00004
|
NM_001111.5(ADAR):c.3199T>C (p.Leu1067=)
|
rs758120128
|
0.00004
|
NM_001111.5(ADAR):c.3201G>A (p.Leu1067=)
|
rs750105086
|
0.00004
|
NM_001111.5(ADAR):c.3316-8A>C
|
rs767832906
|
0.00004
|
NM_001111.5(ADAR):c.3354C>T (p.Ser1118=)
|
rs764381126
|
0.00004
|
NM_001111.5(ADAR):c.675G>A (p.Pro225=)
|
rs771459105
|
0.00004
|
NM_001111.5(ADAR):c.935A>T (p.Asp312Val)
|
rs200192885
|
0.00004
|
NM_006397.3(RNASEH2A):c.175G>C (p.Asp59His)
|
rs766343269
|
0.00004
|
NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=)
|
rs767723275
|
0.00004
|
NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=)
|
rs540611823
|
0.00004
|
NM_006397.3(RNASEH2A):c.489G>A (p.Thr163=)
|
rs533339996
|
0.00004
|
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu)
|
rs369355807
|
0.00004
|
NM_006397.3(RNASEH2A):c.638-3C>T
|
rs780614048
|
0.00004
|
NM_006397.3(RNASEH2A):c.761+16G>A
|
rs558675752
|
0.00004
|
NM_006397.3(RNASEH2A):c.780G>A (p.Glu260=)
|
rs774054854
|
0.00004
|
NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=)
|
rs151189478
|
0.00004
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00004
|
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile)
|
rs145323435
|
0.00004
|
NM_015474.4(SAMHD1):c.208+8C>T
|
rs543987630
|
0.00004
|
NM_015474.4(SAMHD1):c.349-18T>C
|
rs372746139
|
0.00004
|
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=)
|
rs767971429
|
0.00004
|
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=)
|
rs754519810
|
0.00004
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu)
|
rs35207787
|
0.00004
|
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His)
|
rs138611889
|
0.00004
|
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala)
|
rs747135877
|
0.00004
|
NM_022168.4(IFIH1):c.1516A>G (p.Ile506Val)
|
rs535192485
|
0.00004
|
NM_022168.4(IFIH1):c.1524+9T>C
|
rs74162083
|
0.00004
|
NM_022168.4(IFIH1):c.1605A>G (p.Pro535=)
|
rs376364797
|
0.00004
|
NM_022168.4(IFIH1):c.1609A>G (p.Lys537Glu)
|
rs374396452
|
0.00004
|
NM_022168.4(IFIH1):c.1641+13T>C
|
rs558545015
|
0.00004
|
NM_022168.4(IFIH1):c.1641+4T>C
|
rs931264780
|
0.00004
|
NM_022168.4(IFIH1):c.1642-8A>G
|
rs772580594
|
0.00004
|
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn)
|
rs749942019
|
0.00004
|
NM_022168.4(IFIH1):c.2049C>T (p.Asn683=)
|
rs753209427
|
0.00004
|
NM_022168.4(IFIH1):c.2183G>A (p.Arg728Gln)
|
rs1266522773
|
0.00004
|
NM_022168.4(IFIH1):c.2304+20C>T
|
rs561559397
|
0.00004
|
NM_022168.4(IFIH1):c.2414T>G (p.Ile805Ser)
|
rs753623939
|
0.00004
|
NM_022168.4(IFIH1):c.2417G>A (p.Arg806His)
|
rs562743627
|
0.00004
|
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)
|
rs200810568
|
0.00004
|
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)
|
rs750804689
|
0.00004
|
NM_022168.4(IFIH1):c.2622G>C (p.Leu874Phe)
|
rs760588876
|
0.00004
|
NM_022168.4(IFIH1):c.2839C>T (p.Leu947=)
|
rs931561363
|
0.00004
|
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)
|
rs751417093
|
0.00004
|
NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly)
|
rs148623633
|
0.00004
|
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala)
|
rs375449284
|
0.00004
|
NM_022168.4(IFIH1):c.467A>C (p.Glu156Ala)
|
rs144853750
|
0.00004
|
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe)
|
rs774782975
|
0.00004
|
NM_022168.4(IFIH1):c.769+4C>T
|
rs748285029
|
0.00004
|
NM_022168.4(IFIH1):c.770-18A>C
|
rs531825087
|
0.00004
|
NM_022168.4(IFIH1):c.891A>C (p.Ala297=)
|
rs373450188
|
0.00004
|
NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile)
|
rs541903338
|
0.00004
|
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln)
|
rs145465454
|
0.00004
|
NM_024570.4(RNASEH2B):c.322-5T>G
|
rs761515995
|
0.00004
|
NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp)
|
rs1237024427
|
0.00004
|
NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp)
|
rs900876937
|
0.00004
|
NM_024570.4(RNASEH2B):c.576T>G (p.Thr192=)
|
rs780872918
|
0.00004
|
NM_024570.4(RNASEH2B):c.65-14C>T
|
rs779646425
|
0.00004
|
NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln)
|
rs774950202
|
0.00004
|
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn)
|
rs748144224
|
0.00004
|
NM_024570.4(RNASEH2B):c.828T>C (p.Asn276=)
|
rs950747194
|
0.00004
|
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn)
|
rs200802557
|
0.00004
|
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn)
|
rs773527127
|
0.00004
|
NM_032193.4(RNASEH2C):c.175C>A (p.Leu59Ile)
|
rs764887792
|
0.00004
|
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe)
|
rs779295406
|
0.00004
|
NM_032193.4(RNASEH2C):c.349-16C>T
|
rs199868316
|
0.00004
|
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu)
|
rs774773395
|
0.00004
|
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg)
|
rs188508043
|
0.00004
|
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys)
|
rs745434375
|
0.00004
|
NM_033629.6(TREX1):c.250A>G (p.Ile84Val)
|
rs775075513
|
0.00004
|
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr)
|
rs778869156
|
0.00004
|
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter)
|
rs746384382
|
0.00004
|
NM_033629.6(TREX1):c.416del (p.Ala139fs)
|
rs763229085
|
0.00004
|
NM_033629.6(TREX1):c.471T>G (p.Thr157=)
|
rs751022472
|
0.00004
|
NM_033629.6(TREX1):c.473C>T (p.Ala158Val)
|
rs762011967
|
0.00004
|
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu)
|
rs531702332
|
0.00004
|
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu)
|
rs140029866
|
0.00004
|
NM_080628.3(TLDC2):c.*18-433T>C
|
rs757372495
|
0.00004
|
NM_080628.3(TLDC2):c.*18-466G>A
|
rs886056645
|
0.00004
|
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser)
|
rs940393676
|
0.00003
|
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser)
|
rs200830156
|
0.00003
|
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu)
|
rs187076847
|
0.00003
|
NM_001111.5(ADAR):c.192G>A (p.Leu64=)
|
rs61735072
|
0.00003
|
NM_001111.5(ADAR):c.2001G>T (p.Val667=)
|
rs752465315
|
0.00003
|
NM_001111.5(ADAR):c.2207G>A (p.Arg736His)
|
rs147800502
|
0.00003
|
NM_001111.5(ADAR):c.2270+18G>A
|
rs991076316
|
0.00003
|
NM_001111.5(ADAR):c.2270+3G>T
|
rs778624308
|
0.00003
|
NM_001111.5(ADAR):c.2437G>A (p.Ala813Thr)
|
rs754179945
|
0.00003
|
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala)
|
rs142456688
|
0.00003
|
NM_001111.5(ADAR):c.2763-10C>G
|
rs750394212
|
0.00003
|
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn)
|
rs200537032
|
0.00003
|
NM_001111.5(ADAR):c.592G>A (p.Ala198Thr)
|
rs764385471
|
0.00003
|
NM_001111.5(ADAR):c.625G>A (p.Gly209Arg)
|
rs767095635
|
0.00003
|
NM_001111.5(ADAR):c.642C>T (p.Asp214=)
|
rs781005907
|
0.00003
|
NM_001111.5(ADAR):c.643G>A (p.Gly215Ser)
|
rs751532191
|
0.00003
|
NM_001111.5(ADAR):c.746C>T (p.Ser249Leu)
|
rs750380232
|
0.00003
|
NM_006397.3(RNASEH2A):c.*50T>C
|
rs199822158
|
0.00003
|
NM_006397.3(RNASEH2A):c.-25A>G
|
rs886054235
|
0.00003
|
NM_006397.3(RNASEH2A):c.323+14G>A
|
rs375035268
|
0.00003
|
NM_006397.3(RNASEH2A):c.407C>G (p.Thr136Ser)
|
rs1459366188
|
0.00003
|
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile)
|
rs1033081366
|
0.00003
|
NM_006397.3(RNASEH2A):c.502G>T (p.Ala168Ser)
|
rs772940870
|
0.00003
|
NM_006397.3(RNASEH2A):c.542G>A (p.Cys181Tyr)
|
rs201041092
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys)
|
rs372667206
|
0.00003
|
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met)
|
rs79843600
|
0.00003
|
NM_006397.3(RNASEH2A):c.752A>G (p.Asp251Gly)
|
rs768983249
|
0.00003
|
NM_006397.3(RNASEH2A):c.779A>G (p.Glu260Gly)
|
rs770898096
|
0.00003
|
NM_006397.3(RNASEH2A):c.866T>G (p.Leu289Arg)
|
rs745764952
|
0.00003
|
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His)
|
rs75037667
|
0.00003
|
NM_006397.3(RNASEH2A):c.873C>T (p.Arg291=)
|
rs746693346
|
0.00003
|
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser)
|
rs768346345
|
0.00003
|
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe)
|
rs1356154563
|
0.00003
|
NM_015474.4(SAMHD1):c.534A>C (p.Leu178=)
|
rs771148482
|
0.00003
|
NM_015474.4(SAMHD1):c.795T>C (p.Ile265=)
|
rs770681043
|
0.00003
|
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp)
|
rs202019609
|
0.00003
|
NM_015474.4(SAMHD1):c.90A>C (p.Ala30=)
|
rs780812058
|
0.00003
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys)
|
rs113854430
|
0.00003
|
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu)
|
rs765985079
|
0.00003
|
NM_022168.4(IFIH1):c.1240G>C (p.Ala414Pro)
|
rs201917037
|
0.00003
|
NM_022168.4(IFIH1):c.1300T>C (p.Leu434=)
|
rs777314172
|
0.00003
|
NM_022168.4(IFIH1):c.1457G>C (p.Gly486Ala)
|
rs141748480
|
0.00003
|
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr)
|
rs763096939
|
0.00003
|
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)
|
rs186942719
|
0.00003
|
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn)
|
rs567418553
|
0.00003
|
NM_022168.4(IFIH1):c.2045-1G>A
|
rs748813106
|
0.00003
|
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter)
|
rs201193151
|
0.00003
|
NM_022168.4(IFIH1):c.2199G>A (p.Ala733=)
|
rs370474318
|
0.00003
|
NM_022168.4(IFIH1):c.2294C>T (p.Pro765Leu)
|
rs376380607
|
0.00003
|
NM_022168.4(IFIH1):c.2305-10G>A
|
rs970956085
|
0.00003
|
NM_022168.4(IFIH1):c.2305-2A>G
|
rs199696786
|
0.00003
|
NM_022168.4(IFIH1):c.2383G>A (p.Gly795Ser)
|
rs141366758
|
0.00003
|
NM_022168.4(IFIH1):c.2435A>G (p.Asn812Ser)
|
rs199638804
|
0.00003
|
NM_022168.4(IFIH1):c.2447del (p.Met816fs)
|
rs1349369420
|
0.00003
|
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
|
rs376048533
|
0.00003
|
NM_022168.4(IFIH1):c.2523C>T (p.Ile841=)
|
rs764283606
|
0.00003
|
NM_022168.4(IFIH1):c.2616+6G>T
|
rs761784724
|
0.00003
|
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr)
|
rs748688202
|
0.00003
|
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs)
|
rs1392296770
|
0.00003
|
NM_022168.4(IFIH1):c.623-11G>A
|
rs1384873017
|
0.00003
|
NM_022168.4(IFIH1):c.63G>T (p.Arg21Ser)
|
rs553228814
|
0.00003
|
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter)
|
rs74162079
|
0.00003
|
NM_022168.4(IFIH1):c.988C>T (p.Pro330Ser)
|
rs141848057
|
0.00003
|
NM_024570.4(RNASEH2B):c.-145G>A
|
rs1227696445
|
0.00003
|
NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile)
|
rs1292841062
|
0.00003
|
NM_024570.4(RNASEH2B):c.240A>G (p.Gln80=)
|
rs781187392
|
0.00003
|
NM_024570.4(RNASEH2B):c.245-8A>G
|
rs1057517815
|
0.00003
|
NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu)
|
rs770203126
|
0.00003
|
NM_024570.4(RNASEH2B):c.407A>C (p.Lys136Thr)
|
rs199935006
|
0.00003
|
NM_024570.4(RNASEH2B):c.440A>C (p.Asn147Thr)
|
rs746633003
|
0.00003
|
NM_024570.4(RNASEH2B):c.55C>T (p.Leu19=)
|
rs1181798662
|
0.00003
|
NM_024570.4(RNASEH2B):c.617-7C>G
|
rs367604928
|
0.00003
|
NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr)
|
rs768415436
|
0.00003
|
NM_032193.4(RNASEH2C):c.*29A>G
|
rs886048499
|
0.00003
|
NM_032193.4(RNASEH2C):c.459T>C (p.Leu153=)
|
rs771390677
|
0.00003
|
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp)
|
rs759118175
|
0.00003
|
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=)
|
rs376140250
|
0.00003
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00003
|
NM_033629.6(TREX1):c.290G>A (p.Arg97His)
|
rs200773268
|
0.00003
|
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser)
|
rs757909936
|
0.00003
|
NM_033629.6(TREX1):c.500del (p.Ser167fs)
|
rs76642637
|
0.00003
|
NM_033629.6(TREX1):c.587C>T (p.Thr196Met)
|
rs754998766
|
0.00003
|
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp)
|
rs201068640
|
0.00003
|
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)
|
rs55691060
|
0.00003
|
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys)
|
rs745707260
|
0.00003
|
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr)
|
rs748145509
|
0.00003
|
NM_001111.5(ADAR):c.1395T>C (p.Ser465=)
|
rs1367816340
|
0.00002
|
NM_001111.5(ADAR):c.141C>T (p.Leu47=)
|
rs772129626
|
0.00002
|
NM_001111.5(ADAR):c.1565A>C (p.Asn522Thr)
|
rs766604638
|
0.00002
|
NM_001111.5(ADAR):c.1626T>C (p.Asn542=)
|
rs1305480769
|
0.00002
|
NM_001111.5(ADAR):c.1638T>C (p.Phe546=)
|
rs747546677
|
0.00002
|
NM_001111.5(ADAR):c.1654G>A (p.Gly552Arg)
|
rs771516546
|
0.00002
|
NM_001111.5(ADAR):c.1702A>G (p.Ile568Val)
|
rs755915771
|
0.00002
|
NM_001111.5(ADAR):c.172G>A (p.Gly58Arg)
|
rs1208088462
|
0.00002
|
NM_001111.5(ADAR):c.1765A>G (p.Thr589Ala)
|
rs764506305
|
0.00002
|
NM_001111.5(ADAR):c.1785+10C>G
|
rs535441726
|
0.00002
|
NM_001111.5(ADAR):c.1785+5G>A
|
rs17843866
|
0.00002
|
NM_001111.5(ADAR):c.185C>T (p.Pro62Leu)
|
rs754467673
|
0.00002
|
NM_001111.5(ADAR):c.2058C>T (p.Asn686=)
|
rs747183900
|
0.00002
|
NM_001111.5(ADAR):c.2079+19C>T
|
rs754677757
|
0.00002
|
NM_001111.5(ADAR):c.2151C>T (p.Gly717=)
|
rs775619389
|
0.00002
|
NM_001111.5(ADAR):c.2157C>T (p.Leu719=)
|
rs35801582
|
0.00002
|
NM_001111.5(ADAR):c.217C>G (p.Pro73Ala)
|
rs894373560
|
0.00002
|
NM_001111.5(ADAR):c.2202C>T (p.Tyr734=)
|
rs375867672
|
0.00002
|
NM_001111.5(ADAR):c.2206C>T (p.Arg736Cys)
|
rs770309575
|
0.00002
|
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val)
|
rs367868255
|
0.00002
|
NM_001111.5(ADAR):c.2382G>A (p.Gly794=)
|
rs756084799
|
0.00002
|
NM_001111.5(ADAR):c.2388C>T (p.Asn796=)
|
rs1251582638
|
0.00002
|
NM_001111.5(ADAR):c.2584T>G (p.Ser862Ala)
|
rs776268194
|
0.00002
|
NM_001111.5(ADAR):c.2592C>T (p.Leu864=)
|
rs138707431
|
0.00002
|
NM_001111.5(ADAR):c.2762+7G>A
|
rs201315688
|
0.00002
|
NM_001111.5(ADAR):c.2805G>A (p.Ala935=)
|
rs375643914
|
0.00002
|
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu)
|
rs373564780
|
0.00002
|
NM_001111.5(ADAR):c.288C>T (p.Gly96=)
|
rs779403614
|
0.00002
|
NM_001111.5(ADAR):c.2907C>T (p.Gly969=)
|
rs185906367
|
0.00002
|
NM_001111.5(ADAR):c.3019+9T>C
|
rs17843869
|
0.00002
|
NM_001111.5(ADAR):c.3082G>A (p.Gly1028Arg)
|
rs1236873184
|
0.00002
|
NM_001111.5(ADAR):c.3315+19A>G
|
rs755912668
|
0.00002
|
NM_001111.5(ADAR):c.3366G>A (p.Lys1122=)
|
rs369182324
|
0.00002
|
NM_001111.5(ADAR):c.341G>A (p.Arg114His)
|
rs770167108
|
0.00002
|
NM_001111.5(ADAR):c.3504C>G (p.Leu1168=)
|
rs566390171
|
0.00002
|
NM_001111.5(ADAR):c.3582G>A (p.Thr1194=)
|
rs776752850
|
0.00002
|
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile)
|
rs747418036
|
0.00002
|
NM_001111.5(ADAR):c.504G>A (p.Pro168=)
|
rs547227391
|
0.00002
|
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser)
|
rs779939725
|
0.00002
|
NM_001111.5(ADAR):c.566C>T (p.Ala189Val)
|
rs182793061
|
0.00002
|
NM_001111.5(ADAR):c.591C>T (p.Ile197=)
|
rs202096621
|
0.00002
|
NM_001111.5(ADAR):c.59A>G (p.Tyr20Cys)
|
rs754158375
|
0.00002
|
NM_001111.5(ADAR):c.624C>T (p.Ser208=)
|
rs755808579
|
0.00002
|
NM_001111.5(ADAR):c.687G>A (p.Pro229=)
|
rs762320645
|
0.00002
|
NM_001111.5(ADAR):c.755C>G (p.Ala252Gly)
|
rs1314331716
|
0.00002
|
NM_001111.5(ADAR):c.762C>G (p.Asn254Lys)
|
rs534876356
|
0.00002
|
NM_001111.5(ADAR):c.771C>T (p.Ser257=)
|
rs368596210
|
0.00002
|
NM_006397.3(RNASEH2A):c.309C>T (p.Thr103=)
|
rs755642568
|
0.00002
|
NM_006397.3(RNASEH2A):c.384A>T (p.Ala128=)
|
rs781729375
|
0.00002
|
NM_006397.3(RNASEH2A):c.412-17G>A
|
rs778916656
|
0.00002
|
NM_006397.3(RNASEH2A):c.425C>T (p.Thr142Ile)
|
rs373008346
|
0.00002
|
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys)
|
rs769486587
|
0.00002
|
NM_006397.3(RNASEH2A):c.465A>G (p.Gln155=)
|
rs758492414
|
0.00002
|
NM_006397.3(RNASEH2A):c.474C>T (p.Pro158=)
|
rs201180210
|
0.00002
|
NM_006397.3(RNASEH2A):c.488C>T (p.Thr163Met)
|
rs1046057251
|
0.00002
|
NM_006397.3(RNASEH2A):c.637+18C>G
|
rs372421261
|
0.00002
|
NM_006397.3(RNASEH2A):c.670G>A (p.Val224Met)
|
rs775597355
|
0.00002
|
NM_006397.3(RNASEH2A):c.703C>T (p.Arg235Trp)
|
rs773112247
|
0.00002
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_006397.3(RNASEH2A):c.720G>A (p.Thr240=)
|
rs752200471
|
0.00002
|
NM_006397.3(RNASEH2A):c.871C>T (p.Arg291Cys)
|
rs771858022
|
0.00002
|
NM_015474.4(SAMHD1):c.1063-6C>T
|
rs751597956
|
0.00002
|
NM_015474.4(SAMHD1):c.1224C>A (p.Arg408=)
|
rs963896466
|
0.00002
|
NM_015474.4(SAMHD1):c.1359A>G (p.Leu453=)
|
rs142183953
|
0.00002
|
NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val)
|
rs751309562
|
0.00002
|
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)
|
rs373079404
|
0.00002
|
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met)
|
rs529220118
|
0.00002
|
NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe)
|
rs780617865
|
0.00002
|
NM_015474.4(SAMHD1):c.209-4A>G
|
rs961575949
|
0.00002
|
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=)
|
rs760417947
|
0.00002
|
NM_015474.4(SAMHD1):c.384C>T (p.Leu128=)
|
rs756023341
|
0.00002
|
NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg)
|
rs761306482
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)
|
rs139804668
|
0.00002
|
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys)
|
rs747675634
|
0.00002
|
NM_015474.4(SAMHD1):c.897G>A (p.Glu299=)
|
rs766301679
|
0.00002
|
NM_022168.4(IFIH1):c.1152G>A (p.Trp384Ter)
|
rs199917968
|
0.00002
|
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu)
|
rs367921237
|
0.00002
|
NM_022168.4(IFIH1):c.1377G>A (p.Arg459=)
|
rs771166114
|
0.00002
|
NM_022168.4(IFIH1):c.1382A>G (p.Tyr461Cys)
|
rs746897113
|
0.00002
|
NM_022168.4(IFIH1):c.1498G>A (p.Ala500Thr)
|
rs775333857
|
0.00002
|
NM_022168.4(IFIH1):c.1527A>G (p.Leu509=)
|
rs749062549
|
0.00002
|
NM_022168.4(IFIH1):c.1658A>T (p.Lys553Ile)
|
rs749596514
|
0.00002
|
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)
|
rs765060493
|
0.00002
|
NM_022168.4(IFIH1):c.1757A>G (p.Glu586Gly)
|
rs777933362
|
0.00002
|
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter)
|
rs745937740
|
0.00002
|
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met)
|
rs752494417
|
0.00002
|
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser)
|
rs200980825
|
0.00002
|
NM_022168.4(IFIH1):c.1915G>A (p.Ala639Thr)
|
rs774347658
|
0.00002
|
NM_022168.4(IFIH1):c.1953T>A (p.Asp651Glu)
|
rs754434877
|
0.00002
|
NM_022168.4(IFIH1):c.2019T>C (p.Asp673=)
|
rs779835794
|
0.00002
|
NM_022168.4(IFIH1):c.2027T>A (p.Leu676His)
|
rs745474856
|
0.00002
|
NM_022168.4(IFIH1):c.2044+20A>G
|
rs375843812
|
0.00002
|
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser)
|
rs774309855
|
0.00002
|
NM_022168.4(IFIH1):c.21A>C (p.Thr7=)
|
rs757115617
|
0.00002
|
NM_022168.4(IFIH1):c.2305-13A>G
|
rs758206522
|
0.00002
|
NM_022168.4(IFIH1):c.2334T>G (p.Phe778Leu)
|
rs774912983
|
0.00002
|
NM_022168.4(IFIH1):c.2366C>T (p.Thr789Ile)
|
rs778200491
|
0.00002
|
NM_022168.4(IFIH1):c.2491G>A (p.Val831Ile)
|
rs750993424
|
0.00002
|
NM_022168.4(IFIH1):c.2763T>C (p.His921=)
|
rs772582837
|
0.00002
|
NM_022168.4(IFIH1):c.2773A>G (p.Lys925Glu)
|
rs1165752336
|
0.00002
|
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)
|
rs748198655
|
0.00002
|
NM_022168.4(IFIH1):c.299C>G (p.Thr100Arg)
|
rs757803902
|
0.00002
|
NM_022168.4(IFIH1):c.413G>A (p.Cys138Tyr)
|
rs774361518
|
0.00002
|
NM_022168.4(IFIH1):c.564A>G (p.Thr188=)
|
rs758694037
|
0.00002
|
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter)
|
rs771251917
|
0.00002
|
NM_022168.4(IFIH1):c.691C>A (p.Pro231Thr)
|
rs749404410
|
0.00002
|
NM_022168.4(IFIH1):c.700G>C (p.Glu234Gln)
|
rs960791103
|
0.00002
|
NM_022168.4(IFIH1):c.729C>G (p.Asn243Lys)
|
rs778501846
|
0.00002
|
NM_022168.4(IFIH1):c.736G>T (p.Glu246Ter)
|
rs373854773
|
0.00002
|
NM_022168.4(IFIH1):c.769+12A>T
|
rs544226741
|
0.00002
|
NM_024570.4(RNASEH2B):c.177G>A (p.Gln59=)
|
rs141881672
|
0.00002
|
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)
|
rs759273327
|
0.00002
|
NM_024570.4(RNASEH2B):c.511-4A>G
|
rs1252856173
|
0.00002
|
NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala)
|
rs371740577
|
0.00002
|
NM_024570.4(RNASEH2B):c.65-11T>C
|
rs374358281
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_024570.4(RNASEH2B):c.905G>A (p.Gly302Glu)
|
rs1462322143
|
0.00002
|
NM_024570.4(RNASEH2B):c.916A>T (p.Lys306Ter)
|
rs774043353
|
0.00002
|
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg)
|
rs771560732
|
0.00002
|
NM_032193.3(RNASEH2C):c.-139G>T
|
rs928515689
|
0.00002
|
NM_032193.4(RNASEH2C):c.*1504G>A
|
rs886048489
|
0.00002
|
NM_032193.4(RNASEH2C):c.*1778C>G
|
rs886048485
|
0.00002
|
NM_032193.4(RNASEH2C):c.*223G>A
|
rs886048497
|
0.00002
|
NM_032193.4(RNASEH2C):c.*572C>T
|
rs200332583
|
0.00002
|
NM_032193.4(RNASEH2C):c.*940A>G
|
rs767097041
|
0.00002
|
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys)
|
rs1453336065
|
0.00002
|
NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys)
|
rs769127379
|
0.00002
|
NM_032193.4(RNASEH2C):c.172+12G>A
|
rs1169841008
|
0.00002
|
NM_032193.4(RNASEH2C):c.348+6C>T
|
rs779293116
|
0.00002
|
NM_032193.4(RNASEH2C):c.349-6C>T
|
rs774542613
|
0.00002
|
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg)
|
rs921270646
|
0.00002
|
NM_033629.6(TREX1):c.303T>C (p.Asp101=)
|
rs140833802
|
0.00002
|
NM_033629.6(TREX1):c.383G>A (p.Arg128His)
|
rs751124579
|
0.00002
|
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu)
|
rs749667732
|
0.00002
|
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser)
|
rs200510205
|
0.00002
|
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys)
|
rs145721839
|
0.00002
|
NM_033629.6(TREX1):c.555C>T (p.Arg185=)
|
rs755796904
|
0.00002
|
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg)
|
rs770775387
|
0.00002
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
NM_033629.6(TREX1):c.813G>A (p.Lys271=)
|
rs780078867
|
0.00002
|
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu)
|
rs148833270
|
0.00002
|
NM_033629.6(TREX1):c.894C>T (p.Thr298=)
|
rs764559601
|
0.00002
|
NM_080628.3(TLDC2):c.*18-801C>T
|
rs1030352932
|
0.00002
|
NM_130384.3(ATRIP):c.*682C>T
|
rs886058623
|
0.00002
|
NM_001111.5(ADAR):c.1006G>T (p.Asp336Tyr)
|
rs763575197
|
0.00001
|
NM_001111.5(ADAR):c.1024G>T (p.Asp342Tyr)
|
rs750785381
|
0.00001
|
NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu)
|
rs763695856
|
0.00001
|
NM_001111.5(ADAR):c.1062T>G (p.His354Gln)
|
rs767103774
|
0.00001
|
NM_001111.5(ADAR):c.108C>T (p.Pro36=)
|
rs1571113155
|
0.00001
|
NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg)
|
rs770795921
|
0.00001
|
NM_001111.5(ADAR):c.1158C>T (p.Asn386=)
|
rs752276168
|
0.00001
|
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr)
|
rs1190740301
|
0.00001
|
NM_001111.5(ADAR):c.1207A>G (p.Met403Val)
|
rs762748379
|
0.00001
|
NM_001111.5(ADAR):c.1266G>A (p.Arg422=)
|
rs1277143880
|
0.00001
|
NM_001111.5(ADAR):c.1315A>G (p.Asn439Asp)
|
rs1040011158
|
0.00001
|
NM_001111.5(ADAR):c.1407A>C (p.Ala469=)
|
rs747110415
|
0.00001
|
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln)
|
rs759679549
|
0.00001
|
NM_001111.5(ADAR):c.1443C>T (p.Ser481=)
|
rs1175755853
|
0.00001
|
NM_001111.5(ADAR):c.1457G>T (p.Gly486Val)
|
rs1275238356
|
0.00001
|
NM_001111.5(ADAR):c.15+16C>T
|
rs1353298437
|
0.00001
|
NM_001111.5(ADAR):c.15+20G>A
|
rs1269610582
|
0.00001
|
NM_001111.5(ADAR):c.1542C>T (p.Phe514=)
|
rs757137562
|
0.00001
|
NM_001111.5(ADAR):c.1556G>A (p.Cys519Tyr)
|
rs1404371210
|
0.00001
|
NM_001111.5(ADAR):c.16-12C>G
|
rs202076652
|
0.00001
|
NM_001111.5(ADAR):c.16-8T>C
|
rs771755412
|
0.00001
|
NM_001111.5(ADAR):c.1602-4C>G
|
rs1308914614
|
0.00001
|
NM_001111.5(ADAR):c.1602-6G>A
|
rs773500380
|
0.00001
|
NM_001111.5(ADAR):c.1602-7C>T
|
rs763134303
|
0.00001
|
NM_001111.5(ADAR):c.171T>C (p.Ile57=)
|
rs1245796137
|
0.00001
|
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly)
|
rs374014885
|
0.00001
|
NM_001111.5(ADAR):c.1806C>T (p.Pro602=)
|
rs757296904
|
0.00001
|
NM_001111.5(ADAR):c.1843C>T (p.Pro615Ser)
|
rs1179154225
|
0.00001
|
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile)
|
rs570647049
|
0.00001
|
NM_001111.5(ADAR):c.186G>A (p.Pro62=)
|
rs1303196495
|
0.00001
|
NM_001111.5(ADAR):c.1890C>T (p.Cys630=)
|
rs558496566
|
0.00001
|
NM_001111.5(ADAR):c.1898G>A (p.Arg633His)
|
rs748307559
|
0.00001
|
NM_001111.5(ADAR):c.1960G>A (p.Ala654Thr)
|
rs1203975739
|
0.00001
|
NM_001111.5(ADAR):c.196C>G (p.Pro66Ala)
|
rs1314856456
|
0.00001
|
NM_001111.5(ADAR):c.200C>T (p.Ser67Phe)
|
rs1367119670
|
0.00001
|
NM_001111.5(ADAR):c.2016C>T (p.Ala672=)
|
rs529646280
|
0.00001
|
NM_001111.5(ADAR):c.2042A>G (p.His681Arg)
|
rs762924757
|
0.00001
|
NM_001111.5(ADAR):c.2077C>G (p.Gln693Glu)
|
rs121912423
|
0.00001
|
NM_001111.5(ADAR):c.207A>G (p.Pro69=)
|
rs147331601
|
0.00001
|
NM_001111.5(ADAR):c.213C>T (p.Leu71=)
|
rs765015055
|
0.00001
|
NM_001111.5(ADAR):c.2140A>G (p.Arg714Gly)
|
rs1697539238
|
0.00001
|
NM_001111.5(ADAR):c.2152G>A (p.Glu718Lys)
|
rs1280463566
|
0.00001
|
NM_001111.5(ADAR):c.215G>A (p.Arg72Gln)
|
rs200754665
|
0.00001
|
NM_001111.5(ADAR):c.2173A>G (p.Thr725Ala)
|
rs1697536698
|
0.00001
|
NM_001111.5(ADAR):c.2196G>A (p.Leu732=)
|
rs939759749
|
0.00001
|
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn)
|
rs754538298
|
0.00001
|
NM_001111.5(ADAR):c.2247G>A (p.Gln749=)
|
rs1697530474
|
0.00001
|
NM_001111.5(ADAR):c.2263G>A (p.Glu755Lys)
|
rs758150130
|
0.00001
|
NM_001111.5(ADAR):c.2283A>G (p.Gln761=)
|
rs186310208
|
0.00001
|
NM_001111.5(ADAR):c.2307C>T (p.Phe769=)
|
rs978034540
|
0.00001
|
NM_001111.5(ADAR):c.2320G>A (p.Ala774Thr)
|
rs368419418
|
0.00001
|
NM_001111.5(ADAR):c.2343G>A (p.Lys781=)
|
rs1004131934
|
0.00001
|
NM_001111.5(ADAR):c.2368C>T (p.Arg790Cys)
|
rs1429411421
|
0.00001
|
NM_001111.5(ADAR):c.2373C>A (p.Val791=)
|
rs770697736
|
0.00001
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
NM_001111.5(ADAR):c.2496+8C>T
|
rs770464278
|
0.00001
|
NM_001111.5(ADAR):c.2497-16C>T
|
rs749444156
|
0.00001
|
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp)
|
rs762568334
|
0.00001
|
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln)
|
rs750048114
|
0.00001
|
NM_001111.5(ADAR):c.2593G>A (p.Gly865Ser)
|
rs775500671
|
0.00001
|
NM_001111.5(ADAR):c.2610C>T (p.Ala870=)
|
rs777928382
|
0.00001
|
NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro)
|
rs1261780777
|
0.00001
|
NM_001111.5(ADAR):c.2659T>C (p.Leu887=)
|
rs759505132
|
0.00001
|
NM_001111.5(ADAR):c.2668+11C>T
|
rs768855853
|
0.00001
|
NM_001111.5(ADAR):c.2669-12A>T
|
rs1696978630
|
0.00001
|
NM_001111.5(ADAR):c.2669-9C>T
|
rs777184958
|
0.00001
|
NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr)
|
rs1424630296
|
0.00001
|
NM_001111.5(ADAR):c.2762+18T>C
|
rs775859361
|
0.00001
|
NM_001111.5(ADAR):c.2769C>T (p.Leu923=)
|
rs368948193
|
0.00001
|
NM_001111.5(ADAR):c.2778G>A (p.Glu926=)
|
rs746643040
|
0.00001
|
NM_001111.5(ADAR):c.2787A>G (p.Lys929=)
|
rs1423566981
|
0.00001
|
NM_001111.5(ADAR):c.2804C>T (p.Ala935Val)
|
rs767879893
|
0.00001
|
NM_001111.5(ADAR):c.2885+11T>G
|
rs768277709
|
0.00001
|
NM_001111.5(ADAR):c.2886-12C>G
|
rs775018500
|
0.00001
|
NM_001111.5(ADAR):c.2886-13C>T
|
rs746596725
|
0.00001
|
NM_001111.5(ADAR):c.2886-20C>T
|
rs768222773
|
0.00001
|
NM_001111.5(ADAR):c.2886-5T>C
|
rs201213195
|
0.00001
|
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu)
|
rs886045339
|
0.00001
|
NM_001111.5(ADAR):c.2929A>C (p.Ser977Arg)
|
rs766544371
|
0.00001
|
NM_001111.5(ADAR):c.2932G>A (p.Asp978Asn)
|
rs1288413218
|
0.00001
|
NM_001111.5(ADAR):c.2935C>T (p.Arg979Cys)
|
rs369346345
|
0.00001
|
NM_001111.5(ADAR):c.2960G>A (p.Arg987His)
|
rs760200045
|
0.00001
|
NM_001111.5(ADAR):c.3019+12A>G
|
rs1272636666
|
0.00001
|
NM_001111.5(ADAR):c.3019+20G>A
|
rs541066272
|
0.00001
|
NM_001111.5(ADAR):c.302G>C (p.Ser101Thr)
|
rs763972905
|
0.00001
|
NM_001111.5(ADAR):c.3040G>C (p.Glu1014Gln)
|
rs965662260
|
0.00001
|
NM_001111.5(ADAR):c.3063G>A (p.Thr1021=)
|
rs766868552
|
0.00001
|
NM_001111.5(ADAR):c.307G>C (p.Gly103Arg)
|
rs1248454035
|
0.00001
|
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His)
|
rs773129591
|
0.00001
|
NM_001111.5(ADAR):c.30C>T (p.Ser10=)
|
rs769752403
|
0.00001
|
NM_001111.5(ADAR):c.3120C>T (p.Ile1040=)
|
rs771995348
|
0.00001
|
NM_001111.5(ADAR):c.3132C>T (p.Asn1044=)
|
rs771119857
|
0.00001
|
NM_001111.5(ADAR):c.3159G>A (p.Leu1053=)
|
rs1159544217
|
0.00001
|
NM_001111.5(ADAR):c.3195C>A (p.Val1065=)
|
rs766048826
|
0.00001
|
NM_001111.5(ADAR):c.31G>A (p.Gly11Arg)
|
rs747039563
|
0.00001
|
NM_001111.5(ADAR):c.3203-12T>C
|
rs1425028987
|
0.00001
|
NM_001111.5(ADAR):c.3298A>G (p.Ile1100Val)
|
rs778334248
|
0.00001
|
NM_001111.5(ADAR):c.3305A>G (p.Asn1102Ser)
|
rs1321911338
|
0.00001
|
NM_001111.5(ADAR):c.3316-4C>T
|
rs765304172
|
0.00001
|
NM_001111.5(ADAR):c.339A>C (p.Pro113=)
|
rs1233906249
|
0.00001
|
NM_001111.5(ADAR):c.33A>T (p.Gly11=)
|
rs780089358
|
0.00001
|
NM_001111.5(ADAR):c.340C>T (p.Arg114Cys)
|
rs200286478
|
0.00001
|
NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala)
|
rs200084726
|
0.00001
|
NM_001111.5(ADAR):c.3443+19G>A
|
rs200649075
|
0.00001
|
NM_001111.5(ADAR):c.3443+3A>G
|
rs746915200
|
0.00001
|
NM_001111.5(ADAR):c.3449G>A (p.Arg1150Gln)
|
rs779950072
|
0.00001
|
NM_001111.5(ADAR):c.3460T>C (p.Ser1154Pro)
|
rs887707722
|
0.00001
|
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp)
|
rs1044845711
|
0.00001
|
NM_001111.5(ADAR):c.3492A>G (p.Leu1164=)
|
rs1325974852
|
0.00001
|
NM_001111.5(ADAR):c.3514C>T (p.Arg1172Cys)
|
rs752914135
|
0.00001
|
NM_001111.5(ADAR):c.3515G>A (p.Arg1172His)
|
rs577255099
|
0.00001
|
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His)
|
rs866441514
|
0.00001
|
NM_001111.5(ADAR):c.3531A>G (p.Leu1177=)
|
rs533561093
|
0.00001
|
NM_001111.5(ADAR):c.3568C>T (p.Arg1190Cys)
|
rs979532140
|
0.00001
|
NM_001111.5(ADAR):c.3576C>T (p.Tyr1192=)
|
rs768173047
|
0.00001
|
NM_001111.5(ADAR):c.412G>A (p.Asp138Asn)
|
rs1232376686
|
0.00001
|
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu)
|
rs1463382499
|
0.00001
|
NM_001111.5(ADAR):c.419A>C (p.Glu140Ala)
|
rs753539550
|
0.00001
|
NM_001111.5(ADAR):c.434A>G (p.Lys145Arg)
|
rs763767761
|
0.00001
|
NM_001111.5(ADAR):c.474A>C (p.Ala158=)
|
rs1434133622
|
0.00001
|
NM_001111.5(ADAR):c.487G>A (p.Gly163Arg)
|
rs762094056
|
0.00001
|
NM_001111.5(ADAR):c.557A>G (p.Gln186Arg)
|
rs375311213
|
0.00001
|
NM_001111.5(ADAR):c.55G>A (p.Gly19Ser)
|
rs746103046
|
0.00001
|
NM_001111.5(ADAR):c.594G>A (p.Ala198=)
|
rs563756226
|
0.00001
|
NM_001111.5(ADAR):c.618G>A (p.Gln206=)
|
rs1012436976
|
0.00001
|
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn)
|
rs199906332
|
0.00001
|
NM_001111.5(ADAR):c.661C>T (p.Pro221Ser)
|
rs752904311
|
0.00001
|
NM_001111.5(ADAR):c.686C>T (p.Pro229Leu)
|
rs1338472867
|
0.00001
|
NM_001111.5(ADAR):c.691G>A (p.Asp231Asn)
|
rs772751856
|
0.00001
|
NM_001111.5(ADAR):c.722T>A (p.Leu241His)
|
rs1472127685
|
0.00001
|
NM_001111.5(ADAR):c.735T>C (p.Phe245=)
|
rs758433223
|
0.00001
|
NM_001111.5(ADAR):c.754G>T (p.Ala252Ser)
|
rs1354088100
|
0.00001
|
NM_001111.5(ADAR):c.780A>G (p.Val260=)
|
rs751940017
|
0.00001
|
NM_001111.5(ADAR):c.820C>A (p.Pro274Thr)
|
rs779977985
|
0.00001
|
NM_001111.5(ADAR):c.869C>G (p.Pro290Arg)
|
rs1284913091
|
0.00001
|
NM_001111.5(ADAR):c.885C>T (p.Asp295=)
|
rs368050952
|
0.00001
|
NM_001111.5(ADAR):c.944C>G (p.Ala315Gly)
|
rs761347223
|
0.00001
|
NM_001111.5(ADAR):c.962A>G (p.Asn321Ser)
|
rs760376737
|
0.00001
|
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala)
|
rs771889800
|
0.00001
|
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr)
|
rs770793371
|
0.00001
|
NM_001111.5(ADAR):c.999G>A (p.Val333=)
|
rs781217449
|
0.00001
|
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly)
|
rs762516714
|
0.00001
|
NM_006397.3(RNASEH2A):c.110G>A (p.Gly37Asp)
|
rs11554405
|
0.00001
|
NM_006397.3(RNASEH2A):c.125T>C (p.Leu42Pro)
|
rs1482633002
|
0.00001
|
NM_006397.3(RNASEH2A):c.132C>T (p.Pro44=)
|
rs752762157
|
0.00001
|
NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile)
|
rs1187283211
|
0.00001
|
NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr)
|
rs777734868
|
0.00001
|
NM_006397.3(RNASEH2A):c.169C>G (p.Leu57Val)
|
rs775194617
|
0.00001
|
NM_006397.3(RNASEH2A):c.199+18G>C
|
rs992561670
|
0.00001
|
NM_006397.3(RNASEH2A):c.199+5G>T
|
rs1969004135
|
0.00001
|
NM_006397.3(RNASEH2A):c.200-19C>T
|
rs753801448
|
0.00001
|
NM_006397.3(RNASEH2A):c.222C>T (p.Ser74=)
|
rs891089016
|
0.00001
|
NM_006397.3(RNASEH2A):c.229G>A (p.Glu77Lys)
|
rs771469429
|
0.00001
|
NM_006397.3(RNASEH2A):c.257C>T (p.Thr86Met)
|
rs193084598
|
0.00001
|
NM_006397.3(RNASEH2A):c.258G>A (p.Thr86=)
|
rs1414753414
|
0.00001
|
NM_006397.3(RNASEH2A):c.267C>T (p.Val89=)
|
rs765310821
|
0.00001
|
NM_006397.3(RNASEH2A):c.275C>T (p.Ala92Val)
|
rs562864527
|
0.00001
|
NM_006397.3(RNASEH2A):c.284T>C (p.Val95Ala)
|
rs754727728
|
0.00001
|
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=)
|
rs374650162
|
0.00001
|
NM_006397.3(RNASEH2A):c.323+1G>T
|
rs1388246689
|
0.00001
|
NM_006397.3(RNASEH2A):c.323+3G>A
|
rs780523288
|
0.00001
|
NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile)
|
rs373265362
|
0.00001
|
NM_006397.3(RNASEH2A):c.332A>G (p.Tyr111Cys)
|
rs1254142641
|
0.00001
|
NM_006397.3(RNASEH2A):c.34G>A (p.Gly12Ser)
|
rs779298565
|
0.00001
|
NM_006397.3(RNASEH2A):c.361G>A (p.Ala121Thr)
|
rs753384166
|
0.00001
|
NM_006397.3(RNASEH2A):c.378G>C (p.Gln126His)
|
rs1182449523
|
0.00001
|
NM_006397.3(RNASEH2A):c.396C>T (p.Gly132=)
|
rs1360201052
|
0.00001
|
NM_006397.3(RNASEH2A):c.405C>T (p.Val135=)
|
rs1164184621
|
0.00001
|
NM_006397.3(RNASEH2A):c.411+19G>T
|
rs758134473
|
0.00001
|
NM_006397.3(RNASEH2A):c.411+3G>C
|
rs749477709
|
0.00001
|
NM_006397.3(RNASEH2A):c.412-15C>T
|
rs745955556
|
0.00001
|
NM_006397.3(RNASEH2A):c.439G>C (p.Glu147Gln)
|
rs769486587
|
0.00001
|
NM_006397.3(RNASEH2A):c.452C>T (p.Ala151Val)
|
rs369325444
|
0.00001
|
NM_006397.3(RNASEH2A):c.454C>T (p.Arg152Trp)
|
rs942243073
|
0.00001
|
NM_006397.3(RNASEH2A):c.475G>A (p.Gly159Arg)
|
rs746950188
|
0.00001
|
NM_006397.3(RNASEH2A):c.490G>A (p.Val164Ile)
|
rs904903620
|
0.00001
|
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=)
|
rs1415211346
|
0.00001
|
NM_006397.3(RNASEH2A):c.549+7A>G
|
rs765467499
|
0.00001
|
NM_006397.3(RNASEH2A):c.550-13G>C
|
rs560268310
|
0.00001
|
NM_006397.3(RNASEH2A):c.550G>A (p.Val184Met)
|
rs777679893
|
0.00001
|
NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala)
|
rs1039519462
|
0.00001
|
NM_006397.3(RNASEH2A):c.561C>T (p.Asp187=)
|
rs757010668
|
0.00001
|
NM_006397.3(RNASEH2A):c.569T>G (p.Val190Gly)
|
rs1969055468
|
0.00001
|
NM_006397.3(RNASEH2A):c.576A>G (p.Lys192=)
|
rs770200744
|
0.00001
|
NM_006397.3(RNASEH2A):c.585C>T (p.Phe195=)
|
rs372984331
|
0.00001
|
NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly)
|
rs1489973272
|
0.00001
|
NM_006397.3(RNASEH2A):c.637+20T>C
|
rs778278707
|
0.00001
|
NM_006397.3(RNASEH2A):c.637+8G>A
|
rs757139110
|
0.00001
|
NM_006397.3(RNASEH2A):c.638-19A>G
|
rs758113011
|
0.00001
|
NM_006397.3(RNASEH2A):c.654G>A (p.Ala218=)
|
rs779317641
|
0.00001
|
NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val)
|
rs768625813
|
0.00001
|
NM_006397.3(RNASEH2A):c.669C>T (p.His223=)
|
rs531859310
|
0.00001
|
NM_006397.3(RNASEH2A):c.682T>C (p.Phe228Leu)
|
rs1220751647
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006397.3(RNASEH2A):c.728C>T (p.Thr243Ile)
|
rs1969098175
|
0.00001
|
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys)
|
rs546042666
|
0.00001
|
NM_006397.3(RNASEH2A):c.760T>C (p.Trp254Arg)
|
rs757666508
|
0.00001
|
NM_006397.3(RNASEH2A):c.761+15T>G
|
rs773058733
|
0.00001
|
NM_006397.3(RNASEH2A):c.762-13C>G
|
rs781591228
|
0.00001
|
NM_006397.3(RNASEH2A):c.778G>A (p.Glu260Lys)
|
rs749242017
|
0.00001
|
NM_006397.3(RNASEH2A):c.800A>T (p.Lys267Met)
|
rs1337243889
|
0.00001
|
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr)
|
rs369098182
|
0.00001
|
NM_006397.3(RNASEH2A):c.828_831dup (p.Gln278fs)
|
rs780583621
|
0.00001
|
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His)
|
rs756346898
|
0.00001
|
NM_006397.3(RNASEH2A):c.844C>T (p.Arg282Cys)
|
rs142642923
|
0.00001
|
NM_006397.3(RNASEH2A):c.851C>T (p.Ser284Phe)
|
rs1474678539
|
0.00001
|
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)
|
rs962672070
|
0.00001
|
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His)
|
rs201250022
|
0.00001
|
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg)
|
rs2063734567
|
0.00001
|
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp)
|
rs1232169509
|
0.00001
|
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser)
|
rs1273114275
|
0.00001
|
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys)
|
rs761561066
|
0.00001
|
NM_015474.4(SAMHD1):c.1125A>G (p.Gln375=)
|
rs201876333
|
0.00001
|
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp)
|
rs773888401
|
0.00001
|
NM_015474.4(SAMHD1):c.1154+9C>T
|
rs377745198
|
0.00001
|
NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly)
|
rs916801950
|
0.00001
|
NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile)
|
rs759140727
|
0.00001
|
NM_015474.4(SAMHD1):c.120C>T (p.Pro40=)
|
rs1164431300
|
0.00001
|
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys)
|
rs776994886
|
0.00001
|
NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His)
|
rs140417977
|
0.00001
|
NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys)
|
rs745950444
|
0.00001
|
NM_015474.4(SAMHD1):c.1257T>C (p.Tyr419=)
|
rs1441301586
|
0.00001
|
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser)
|
rs754153159
|
0.00001
|
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser)
|
rs1233436073
|
0.00001
|
NM_015474.4(SAMHD1):c.126C>T (p.Tyr42=)
|
rs754233641
|
0.00001
|
NM_015474.4(SAMHD1):c.1270+17A>G
|
rs2063437409
|
0.00001
|
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr)
|
rs1311797673
|
0.00001
|
NM_015474.4(SAMHD1):c.1350C>T (p.Tyr450=)
|
rs537446646
|
0.00001
|
NM_015474.4(SAMHD1):c.1368T>C (p.Tyr456=)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1380G>A (p.Thr460=)
|
rs544083526
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
0.00001
|
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly)
|
rs145360072
|
0.00001
|
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly)
|
rs1451618642
|
0.00001
|
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=)
|
rs140157384
|
0.00001
|
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser)
|
rs886645360
|
0.00001
|
NM_015474.4(SAMHD1):c.1455C>G (p.Pro485=)
|
rs879334178
|
0.00001
|
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly)
|
rs747437917
|
0.00001
|
NM_015474.4(SAMHD1):c.1503+16A>G
|
rs1287287488
|
0.00001
|
NM_015474.4(SAMHD1):c.1518T>C (p.Asp506=)
|
rs1300340729
|
0.00001
|
NM_015474.4(SAMHD1):c.153C>T (p.Cys51=)
|
rs774247016
|
0.00001
|
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala)
|
rs770504610
|
0.00001
|
NM_015474.4(SAMHD1):c.1609-17C>A
|
rs1260090439
|
0.00001
|
NM_015474.4(SAMHD1):c.1609-1G>T
|
rs515726143
|
0.00001
|
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)
|
rs121434519
|
0.00001
|
NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys)
|
rs6130037
|
0.00001
|
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr)
|
rs779491090
|
0.00001
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp)
|
rs1568788278
|
0.00001
|
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu)
|
rs752755786
|
0.00001
|
NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=)
|
rs150658755
|
0.00001
|
NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=)
|
rs753611896
|
0.00001
|
NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=)
|
rs1449037659
|
0.00001
|
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)
|
rs761596589
|
0.00001
|
NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly)
|
rs768245328
|
0.00001
|
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys)
|
rs765628260
|
0.00001
|
NM_015474.4(SAMHD1):c.204C>T (p.Ile68=)
|
rs2063733926
|
0.00001
|
NM_015474.4(SAMHD1):c.208+16G>A
|
rs778400853
|
0.00001
|
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser)
|
rs141599277
|
0.00001
|
NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn)
|
rs751790128
|
0.00001
|
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His)
|
rs1274894909
|
0.00001
|
NM_015474.4(SAMHD1):c.275+15A>C
|
rs2063688866
|
0.00001
|
NM_015474.4(SAMHD1):c.288G>A (p.Glu96=)
|
rs780159863
|
0.00001
|
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys)
|
rs758586131
|
0.00001
|
NM_015474.4(SAMHD1):c.300G>A (p.Leu100=)
|
rs1045346655
|
0.00001
|
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter)
|
rs779028596
|
0.00001
|
NM_015474.4(SAMHD1):c.333C>T (p.His111=)
|
rs1396545191
|
0.00001
|
NM_015474.4(SAMHD1):c.348+9A>T
|
rs2063640460
|
0.00001
|
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)
|
rs121434520
|
0.00001
|
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=)
|
rs1216724127
|
0.00001
|
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)
|
rs752442185
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)
|
rs369035155
|
0.00001
|
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)
|
rs121434517
|
0.00001
|
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly)
|
rs1235922763
|
0.00001
|
NM_015474.4(SAMHD1):c.448C>T (p.Leu150=)
|
rs1404231193
|
0.00001
|
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys)
|
rs1306109528
|
0.00001
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_015474.4(SAMHD1):c.509+1G>A
|
rs1192315307
|
0.00001
|
NM_015474.4(SAMHD1):c.510-17G>A
|
rs1555835836
|
0.00001
|
NM_015474.4(SAMHD1):c.510-7T>C
|
rs1033373260
|
0.00001
|
NM_015474.4(SAMHD1):c.513G>T (p.Val171=)
|
rs903077482
|
0.00001
|
NM_015474.4(SAMHD1):c.537T>A (p.Val179=)
|
rs749581263
|
0.00001
|
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)
|
rs1455837248
|
0.00001
|
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)
|
rs748150321
|
0.00001
|
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)
|
rs781223072
|
0.00001
|
NM_015474.4(SAMHD1):c.567G>A (p.Leu189=)
|
rs947611800
|
0.00001
|
NM_015474.4(SAMHD1):c.57G>A (p.Pro19=)
|
rs1032186742
|
0.00001
|
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)
|
rs1300333132
|
0.00001
|
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe)
|
rs1053324143
|
0.00001
|
NM_015474.4(SAMHD1):c.624C>T (p.Leu208=)
|
rs764763884
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
0.00001
|
NM_015474.4(SAMHD1):c.626-5T>C
|
rs768848252
|
0.00001
|
NM_015474.4(SAMHD1):c.626-9G>C
|
rs1371988530
|
0.00001
|
NM_015474.4(SAMHD1):c.63C>T (p.Thr21=)
|
rs775849448
|
0.00001
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs)
|
rs515726146
|
0.00001
|
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)
|
rs1335417539
|
0.00001
|
NM_015474.4(SAMHD1):c.681G>A (p.Pro227=)
|
rs144587056
|
0.00001
|
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=)
|
rs763408711
|
0.00001
|
NM_015474.4(SAMHD1):c.728A>C (p.His243Pro)
|
rs757614478
|
0.00001
|
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val)
|
rs754150741
|
0.00001
|
NM_015474.4(SAMHD1):c.786A>G (p.Glu262=)
|
rs1195297197
|
0.00001
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
NM_015474.4(SAMHD1):c.852+6T>C
|
rs1360565476
|
0.00001
|
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu)
|
rs551472065
|
0.00001
|
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu)
|
rs1300702859
|
0.00001
|
NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys)
|
rs1351629453
|
0.00001
|
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)
|
rs755046462
|
0.00001
|
NM_015474.4(SAMHD1):c.9A>G (p.Arg3=)
|
rs1568788547
|
0.00001
|
NM_022168.4(IFIH1):c.102C>T (p.Tyr34=)
|
rs1018613688
|
0.00001
|
NM_022168.4(IFIH1):c.1031A>G (p.Lys344Arg)
|
rs1682930814
|
0.00001
|
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln)
|
rs1235525082
|
0.00001
|
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter)
|
rs768448518
|
0.00001
|
NM_022168.4(IFIH1):c.1095+8A>G
|
rs896477290
|
0.00001
|
NM_022168.4(IFIH1):c.1096-10T>A
|
rs773810038
|
0.00001
|
NM_022168.4(IFIH1):c.1096-19A>G
|
rs767226768
|
0.00001
|
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu)
|
rs888356659
|
0.00001
|
NM_022168.4(IFIH1):c.1101G>C (p.Leu367=)
|
rs180798633
|
0.00001
|
NM_022168.4(IFIH1):c.1137A>G (p.Pro379=)
|
rs1176282403
|
0.00001
|
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser)
|
rs764148204
|
0.00001
|
NM_022168.4(IFIH1):c.1195T>C (p.Ser399Pro)
|
rs1408936117
|
0.00001
|
NM_022168.4(IFIH1):c.11G>A (p.Gly4Glu)
|
rs1558879403
|
0.00001
|
NM_022168.4(IFIH1):c.1212C>A (p.Val404=)
|
rs201130067
|
0.00001
|
NM_022168.4(IFIH1):c.1219T>C (p.Cys407Arg)
|
rs769101700
|
0.00001
|
NM_022168.4(IFIH1):c.121G>C (p.Glu41Gln)
|
rs762115082
|
0.00001
|
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe)
|
rs754807936
|
0.00001
|
NM_022168.4(IFIH1):c.1293T>A (p.Gly431=)
|
rs1682826273
|
0.00001
|
NM_022168.4(IFIH1):c.1294G>T (p.Val432Phe)
|
rs1353805115
|
0.00001
|
NM_022168.4(IFIH1):c.1358T>G (p.Val453Gly)
|
rs558005930
|
0.00001
|
NM_022168.4(IFIH1):c.1363A>G (p.Asn455Asp)
|
rs772981550
|
0.00001
|
NM_022168.4(IFIH1):c.1365T>C (p.Asn455=)
|
rs1451687083
|
0.00001
|
NM_022168.4(IFIH1):c.1376G>A (p.Arg459Lys)
|
rs1031540879
|
0.00001
|
NM_022168.4(IFIH1):c.1429C>T (p.Pro477Ser)
|
rs1416059394
|
0.00001
|
NM_022168.4(IFIH1):c.1525-10T>C
|
rs373610275
|
0.00001
|
NM_022168.4(IFIH1):c.1525-1G>A
|
rs774035953
|
0.00001
|
NM_022168.4(IFIH1):c.1525-4C>T
|
rs147768128
|
0.00001
|
NM_022168.4(IFIH1):c.1552A>G (p.Ile518Val)
|
rs747683934
|
0.00001
|
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn)
|
rs1683546966
|
0.00001
|
NM_022168.4(IFIH1):c.1572C>T (p.Asn524=)
|
rs1190078586
|
0.00001
|
NM_022168.4(IFIH1):c.1574T>C (p.Leu525Pro)
|
rs1390303966
|
0.00001
|
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala)
|
rs1683546841
|
0.00001
|
NM_022168.4(IFIH1):c.1620C>G (p.Ala540=)
|
rs1428640918
|
0.00001
|
NM_022168.4(IFIH1):c.1625C>A (p.Ala542Glu)
|
rs1490646945
|
0.00001
|
NM_022168.4(IFIH1):c.1633A>G (p.Thr545Ala)
|
rs762899578
|
0.00001
|
NM_022168.4(IFIH1):c.1641+19A>G
|
rs758898063
|
0.00001
|
NM_022168.4(IFIH1):c.1641+2T>C
|
rs747781178
|
0.00001
|
NM_022168.4(IFIH1):c.1672A>G (p.Met558Val)
|
rs756286361
|
0.00001
|
NM_022168.4(IFIH1):c.1708A>G (p.Met570Val)
|
rs761723156
|
0.00001
|
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)
|
rs776280813
|
0.00001
|
NM_022168.4(IFIH1):c.1737A>G (p.Glu579=)
|
rs1389431088
|
0.00001
|
NM_022168.4(IFIH1):c.1745C>T (p.Ala582Val)
|
rs889262310
|
0.00001
|
NM_022168.4(IFIH1):c.1765+1G>A
|
rs1292220162
|
0.00001
|
NM_022168.4(IFIH1):c.1765+9G>A
|
rs139661131
|
0.00001
|
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)
|
rs763549486
|
0.00001
|
NM_022168.4(IFIH1):c.180A>C (p.Glu60Asp)
|
rs777639035
|
0.00001
|
NM_022168.4(IFIH1):c.1855A>G (p.Met619Val)
|
rs375482697
|
0.00001
|
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys)
|
rs775623826
|
0.00001
|
NM_022168.4(IFIH1):c.1909A>G (p.Lys637Glu)
|
rs746002371
|
0.00001
|
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr)
|
rs376940981
|
0.00001
|
NM_022168.4(IFIH1):c.1932T>C (p.Asp644=)
|
rs754771732
|
0.00001
|
NM_022168.4(IFIH1):c.1950T>C (p.Asp650=)
|
rs141001536
|
0.00001
|
NM_022168.4(IFIH1):c.1958A>G (p.Tyr653Cys)
|
rs1213233883
|
0.00001
|
NM_022168.4(IFIH1):c.1960T>G (p.Cys654Gly)
|
rs987124852
|
0.00001
|
NM_022168.4(IFIH1):c.1967G>T (p.Gly656Val)
|
rs146300062
|
0.00001
|
NM_022168.4(IFIH1):c.2015C>T (p.Thr672Ile)
|
rs527242746
|
0.00001
|
NM_022168.4(IFIH1):c.2017G>A (p.Asp673Asn)
|
rs746781048
|
0.00001
|
NM_022168.4(IFIH1):c.2069T>C (p.Leu690Pro)
|
rs189782013
|
0.00001
|
NM_022168.4(IFIH1):c.2090A>G (p.Glu697Gly)
|
rs775545790
|
0.00001
|
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val)
|
rs370796923
|
0.00001
|
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe)
|
rs1307616619
|
0.00001
|
NM_022168.4(IFIH1):c.2192C>T (p.Ala731Val)
|
rs766238091
|
0.00001
|
NM_022168.4(IFIH1):c.219T>C (p.Leu73=)
|
rs1683544691
|
0.00001
|
NM_022168.4(IFIH1):c.2242G>A (p.Gly748Arg)
|
rs764553894
|
0.00001
|
NM_022168.4(IFIH1):c.2256C>T (p.His752=)
|
rs1487834990
|
0.00001
|
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn)
|
rs1649189149
|
0.00001
|
NM_022168.4(IFIH1):c.2293C>T (p.Pro765Ser)
|
rs1474738840
|
0.00001
|
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln)
|
rs367851471
|
0.00001
|
NM_022168.4(IFIH1):c.2313A>G (p.Gln771=)
|
rs764896652
|
0.00001
|
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp)
|
rs1246892209
|
0.00001
|
NM_022168.4(IFIH1):c.2330A>G (p.Lys777Arg)
|
rs1286741340
|
0.00001
|
NM_022168.4(IFIH1):c.2356C>T (p.Leu786Phe)
|
rs759911216
|
0.00001
|
NM_022168.4(IFIH1):c.2368A>G (p.Thr790Ala)
|
rs770138422
|
0.00001
|
NM_022168.4(IFIH1):c.2397A>G (p.Lys799=)
|
rs1246805569
|
0.00001
|
NM_022168.4(IFIH1):c.2398G>T (p.Glu800Ter)
|
rs1444920926
|
0.00001
|
NM_022168.4(IFIH1):c.2416C>T (p.Arg806Cys)
|
rs144341455
|
0.00001
|
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile)
|
rs763479773
|
0.00001
|
NM_022168.4(IFIH1):c.2443G>C (p.Ala815Pro)
|
rs745774513
|
0.00001
|
NM_022168.4(IFIH1):c.2448G>A (p.Met816Ile)
|
rs569872801
|
0.00001
|
NM_022168.4(IFIH1):c.2455-8G>A
|
rs1444002660
|
0.00001
|
NM_022168.4(IFIH1):c.2490C>T (p.Tyr830=)
|
rs535643698
|
0.00001
|
NM_022168.4(IFIH1):c.2493C>T (p.Val831=)
|
rs1304689008
|
0.00001
|
NM_022168.4(IFIH1):c.2506A>G (p.Ser836Gly)
|
rs777051409
|
0.00001
|
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg)
|
rs138373022
|
0.00001
|
NM_022168.4(IFIH1):c.2570C>G (p.Ala857Gly)
|
rs746638759
|
0.00001
|
NM_022168.4(IFIH1):c.2573T>C (p.Ile858Thr)
|
rs373490708
|
0.00001
|
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys)
|
rs375179358
|
0.00001
|
NM_022168.4(IFIH1):c.2604G>A (p.Glu868=)
|
rs760907862
|
0.00001
|
NM_022168.4(IFIH1):c.2604G>T (p.Glu868Asp)
|
rs760907862
|
0.00001
|
NM_022168.4(IFIH1):c.2606A>G (p.Tyr869Cys)
|
rs752986445
|
0.00001
|
NM_022168.4(IFIH1):c.2645T>C (p.Met882Thr)
|
rs770497457
|
0.00001
|
NM_022168.4(IFIH1):c.2652G>A (p.Lys884=)
|
rs907133393
|
0.00001
|
NM_022168.4(IFIH1):c.2664C>G (p.Thr888=)
|
rs756574133
|
0.00001
|
NM_022168.4(IFIH1):c.2684A>T (p.His895Leu)
|
rs948646167
|
0.00001
|
NM_022168.4(IFIH1):c.2690A>G (p.Lys897Arg)
|
rs772381153
|
0.00001
|
NM_022168.4(IFIH1):c.2697C>G (p.Asn899Lys)
|
rs763492910
|
0.00001
|
NM_022168.4(IFIH1):c.2714T>C (p.Phe905Ser)
|
rs371419955
|
0.00001
|
NM_022168.4(IFIH1):c.2724A>T (p.Lys908Asn)
|
rs750467622
|
0.00001
|
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
|
rs767453829
|
0.00001
|
NM_022168.4(IFIH1):c.2741C>T (p.Ala914Val)
|
rs759356432
|
0.00001
|
NM_022168.4(IFIH1):c.2750G>A (p.Gly917Glu)
|
rs1690961624
|
0.00001
|
NM_022168.4(IFIH1):c.2751G>T (p.Gly917=)
|
rs145750310
|
0.00001
|
NM_022168.4(IFIH1):c.2759T>A (p.Ile920Asn)
|
rs748895438
|
0.00001
|
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr)
|
rs1291159972
|
0.00001
|
NM_022168.4(IFIH1):c.2768T>C (p.Ile923Thr)
|
rs748620268
|
0.00001
|
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg)
|
rs747311719
|
0.00001
|
NM_022168.4(IFIH1):c.2808-16C>T
|
rs1265758166
|
0.00001
|
NM_022168.4(IFIH1):c.2808-3T>C
|
rs1690950904
|
0.00001
|
NM_022168.4(IFIH1):c.281A>G (p.Tyr94Cys)
|
rs1325840950
|
0.00001
|
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile)
|
rs1322389017
|
0.00001
|
NM_022168.4(IFIH1):c.285G>C (p.Met95Ile)
|
rs748006043
|
0.00001
|
NM_022168.4(IFIH1):c.2862T>G (p.Tyr954Ter)
|
rs750063177
|
0.00001
|
NM_022168.4(IFIH1):c.2898+14T>C
|
rs374527462
|
0.00001
|
NM_022168.4(IFIH1):c.2898+5G>C
|
rs958493507
|
0.00001
|
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=)
|
rs372007025
|
0.00001
|
NM_022168.4(IFIH1):c.3006G>A (p.Lys1002=)
|
rs776754156
|
0.00001
|
NM_022168.4(IFIH1):c.300G>C (p.Thr100=)
|
rs1280391598
|
0.00001
|
NM_022168.4(IFIH1):c.301G>C (p.Asp101His)
|
rs1576243308
|
0.00001
|
NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser)
|
rs931567064
|
0.00001
|
NM_022168.4(IFIH1):c.3036T>A (p.Asn1012Lys)
|
rs528639734
|
0.00001
|
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)
|
rs764380346
|
0.00001
|
NM_022168.4(IFIH1):c.328G>C (p.Ala110Pro)
|
rs1475589306
|
0.00001
|
NM_022168.4(IFIH1):c.331C>A (p.His111Asn)
|
rs760903088
|
0.00001
|
NM_022168.4(IFIH1):c.370dup (p.Thr124fs)
|
rs1414913745
|
0.00001
|
NM_022168.4(IFIH1):c.376G>A (p.Val126Met)
|
rs143910264
|
0.00001
|
NM_022168.4(IFIH1):c.37T>A (p.Tyr13Asn)
|
rs763796280
|
0.00001
|
NM_022168.4(IFIH1):c.411G>C (p.Lys137Asn)
|
rs1257535402
|
0.00001
|
NM_022168.4(IFIH1):c.453+1G>A
|
rs967571395
|
0.00001
|
NM_022168.4(IFIH1):c.453+8T>A
|
rs748372514
|
0.00001
|
NM_022168.4(IFIH1):c.454-11T>C
|
rs1198189984
|
0.00001
|
NM_022168.4(IFIH1):c.462T>G (p.Ala154=)
|
rs1048962898
|
0.00001
|
NM_022168.4(IFIH1):c.463G>A (p.Ala155Thr)
|
rs999278334
|
0.00001
|
NM_022168.4(IFIH1):c.481G>A (p.Glu161Lys)
|
rs1018886793
|
0.00001
|
NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter)
|
rs1455983191
|
0.00001
|
NM_022168.4(IFIH1):c.505A>T (p.Lys169Ter)
|
rs201495678
|
0.00001
|
NM_022168.4(IFIH1):c.524A>T (p.Glu175Val)
|
rs759418219
|
0.00001
|
NM_022168.4(IFIH1):c.529T>C (p.Trp177Arg)
|
rs762589074
|
0.00001
|
NM_022168.4(IFIH1):c.566G>C (p.Gly189Ala)
|
rs898426581
|
0.00001
|
NM_022168.4(IFIH1):c.572A>G (p.Asn191Ser)
|
rs1255420302
|
0.00001
|
NM_022168.4(IFIH1):c.58G>A (p.Ala20Thr)
|
rs1160285695
|
0.00001
|
NM_022168.4(IFIH1):c.605G>A (p.Cys202Tyr)
|
rs1332221584
|
0.00001
|
NM_022168.4(IFIH1):c.613A>G (p.Ser205Gly)
|
rs1029888708
|
0.00001
|
NM_022168.4(IFIH1):c.622+15A>G
|
rs200515533
|
0.00001
|
NM_022168.4(IFIH1):c.622+18G>C
|
rs766097141
|
0.00001
|
NM_022168.4(IFIH1):c.623-17A>G
|
rs984112552
|
0.00001
|
NM_022168.4(IFIH1):c.62G>T (p.Arg21Met)
|
rs370024615
|
0.00001
|
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile)
|
rs930052265
|
0.00001
|
NM_022168.4(IFIH1):c.644T>C (p.Val215Ala)
|
rs546097679
|
0.00001
|
NM_022168.4(IFIH1):c.660G>C (p.Val220=)
|
rs368515897
|
0.00001
|
NM_022168.4(IFIH1):c.683C>T (p.Thr228Ile)
|
rs746288754
|
0.00001
|
NM_022168.4(IFIH1):c.755C>A (p.Ser252Tyr)
|
rs370138586
|
0.00001
|
NM_022168.4(IFIH1):c.75C>T (p.Tyr25=)
|
rs1459082313
|
0.00001
|
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile)
|
rs1256109895
|
0.00001
|
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn)
|
rs1442046271
|
0.00001
|
NM_022168.4(IFIH1):c.802A>G (p.Ser268Gly)
|
rs1266267435
|
0.00001
|
NM_022168.4(IFIH1):c.818G>A (p.Ser273Asn)
|
rs1683037048
|
0.00001
|
NM_022168.4(IFIH1):c.866G>T (p.Ser289Ile)
|
rs1683036042
|
0.00001
|
NM_022168.4(IFIH1):c.874+19G>A
|
rs755833923
|
0.00001
|
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter)
|
rs762821474
|
0.00001
|
NM_022168.4(IFIH1):c.966G>A (p.Gly322=)
|
rs1414537811
|
0.00001
|
NM_024570.4(RNASEH2B):c.*12T>C
|
rs773052815
|
0.00001
|
NM_024570.4(RNASEH2B):c.*159A>G
|
rs886050292
|
0.00001
|
NM_024570.4(RNASEH2B):c.*249T>C
|
rs886050293
|
0.00001
|
NM_024570.4(RNASEH2B):c.*29A>G
|
rs1200577478
|
0.00001
|
NM_024570.4(RNASEH2B):c.-181G>A
|
rs886050288
|
0.00001
|
NM_024570.4(RNASEH2B):c.102G>A (p.Gly34=)
|
rs764270783
|
0.00001
|
NM_024570.4(RNASEH2B):c.111T>G (p.Phe37Leu)
|
rs1458234584
|
0.00001
|
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser)
|
rs762281569
|
0.00001
|
NM_024570.4(RNASEH2B):c.129C>A (p.Pro43=)
|
rs199839728
|
0.00001
|
NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter)
|
rs74876702
|
0.00001
|
NM_024570.4(RNASEH2B):c.136+8C>T
|
rs891972892
|
0.00001
|
NM_024570.4(RNASEH2B):c.137-15G>T
|
rs1406636563
|
0.00001
|
NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val)
|
rs1951648776
|
0.00001
|
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)
|
rs75326546
|
0.00001
|
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg)
|
rs759251667
|
0.00001
|
NM_024570.4(RNASEH2B):c.183T>C (p.Phe61=)
|
rs368589166
|
0.00001
|
NM_024570.4(RNASEH2B):c.244+7G>A
|
rs1593458121
|
0.00001
|
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe)
|
rs1262454987
|
0.00001
|
NM_024570.4(RNASEH2B):c.300C>T (p.Tyr100=)
|
rs1467684524
|
0.00001
|
NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val)
|
rs761380890
|
0.00001
|
NM_024570.4(RNASEH2B):c.321+13C>T
|
rs758688261
|
0.00001
|
NM_024570.4(RNASEH2B):c.321+15C>T
|
rs372703323
|
0.00001
|
NM_024570.4(RNASEH2B):c.321+16G>A
|
rs1490426503
|
0.00001
|
NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu)
|
rs999474934
|
0.00001
|
NM_024570.4(RNASEH2B):c.387G>A (p.Leu129=)
|
rs756682554
|
0.00001
|
NM_024570.4(RNASEH2B):c.39C>T (p.Ala13=)
|
rs571566229
|
0.00001
|
NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe)
|
rs78705382
|
0.00001
|
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala)
|
rs1363075189
|
0.00001
|
NM_024570.4(RNASEH2B):c.428A>T (p.Glu143Val)
|
rs200535256
|
0.00001
|
NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp)
|
rs754434417
|
0.00001
|
NM_024570.4(RNASEH2B):c.437-1G>A
|
rs777313709
|
0.00001
|
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile)
|
rs79310911
|
0.00001
|
NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro)
|
rs1161853513
|
0.00001
|
NM_024570.4(RNASEH2B):c.510+18T>C
|
rs765819204
|
0.00001
|
NM_024570.4(RNASEH2B):c.510+1G>A
|
rs77301371
|
0.00001
|
NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile)
|
rs758877268
|
0.00001
|
NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp)
|
rs765368182
|
0.00001
|
NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr)
|
rs555463211
|
0.00001
|
NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu)
|
rs1028530418
|
0.00001
|
NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly)
|
rs1015708068
|
0.00001
|
NM_024570.4(RNASEH2B):c.616+16T>C
|
rs1329814638
|
0.00001
|
NM_024570.4(RNASEH2B):c.616+5del
|
rs1951890362
|
0.00001
|
NM_024570.4(RNASEH2B):c.628C>T (p.Arg210Cys)
|
rs769632378
|
0.00001
|
NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His)
|
rs755705496
|
0.00001
|
NM_024570.4(RNASEH2B):c.65-13G>A
|
rs1176797481
|
0.00001
|
NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr)
|
rs747995413
|
0.00001
|
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu)
|
rs746153565
|
0.00001
|
NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter)
|
rs1555257383
|
0.00001
|
NM_024570.4(RNASEH2B):c.698+1G>A
|
rs367915667
|
0.00001
|
NM_024570.4(RNASEH2B):c.782A>T (p.Asp261Val)
|
rs1307271194
|
0.00001
|
NM_024570.4(RNASEH2B):c.822+5G>A
|
rs761333168
|
0.00001
|
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu)
|
rs1395602025
|
0.00001
|
NM_024570.4(RNASEH2B):c.894T>C (p.Asp298=)
|
rs1593481878
|
0.00001
|
NM_024570.4(RNASEH2B):c.895A>G (p.Thr299Ala)
|
rs370507842
|
0.00001
|
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)
|
rs886050291
|
0.00001
|
NM_024570.4(RNASEH2B):c.902T>C (p.Phe301Ser)
|
rs780504013
|
0.00001
|
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr)
|
rs542600186
|
0.00001
|
NM_024570.4(RNASEH2B):c.933G>A (p.Lys311=)
|
rs951129269
|
0.00001
|
NM_032193.4(RNASEH2C):c.*178C>G
|
rs3180585
|
0.00001
|
NM_032193.4(RNASEH2C):c.*27C>G
|
rs886048500
|
0.00001
|
NM_032193.4(RNASEH2C):c.*374T>G
|
rs533143132
|
0.00001
|
NM_032193.4(RNASEH2C):c.*719T>G
|
rs886048492
|
0.00001
|
NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly)
|
rs374512840
|
0.00001
|
NM_032193.4(RNASEH2C):c.10G>C (p.Gly4Arg)
|
rs1857363681
|
0.00001
|
NM_032193.4(RNASEH2C):c.126C>T (p.Ala42=)
|
rs1324205598
|
0.00001
|
NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr)
|
rs912731829
|
0.00001
|
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu)
|
rs1310807864
|
0.00001
|
NM_032193.4(RNASEH2C):c.172+17G>C
|
rs746988112
|
0.00001
|
NM_032193.4(RNASEH2C):c.173-14G>A
|
rs886048502
|
0.00001
|
NM_032193.4(RNASEH2C):c.190C>A (p.Arg64=)
|
rs760270515
|
0.00001
|
NM_032193.4(RNASEH2C):c.198C>T (p.Arg66=)
|
rs200792226
|
0.00001
|
NM_032193.4(RNASEH2C):c.20C>T (p.Ala7Val)
|
rs767413437
|
0.00001
|
NM_032193.4(RNASEH2C):c.221C>T (p.Ala74Val)
|
rs1284081456
|
0.00001
|
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met)
|
rs1857352830
|
0.00001
|
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu)
|
rs76091978
|
0.00001
|
NM_032193.4(RNASEH2C):c.336G>A (p.Leu112=)
|
rs762686846
|
0.00001
|
NM_032193.4(RNASEH2C):c.348+19T>C
|
rs755524049
|
0.00001
|
NM_032193.4(RNASEH2C):c.348+1G>A
|
rs747248530
|
0.00001
|
NM_032193.4(RNASEH2C):c.371C>T (p.Ala124Val)
|
rs751248914
|
0.00001
|
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser)
|
rs143452727
|
0.00001
|
NM_032193.4(RNASEH2C):c.377T>G (p.Phe126Cys)
|
rs1426277096
|
0.00001
|
NM_032193.4(RNASEH2C):c.399T>A (p.Gly133=)
|
rs752570194
|
0.00001
|
NM_032193.4(RNASEH2C):c.39C>T (p.Arg13=)
|
rs1335036466
|
0.00001
|
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn)
|
rs781376271
|
0.00001
|
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr)
|
rs757866333
|
0.00001
|
NM_032193.4(RNASEH2C):c.468+16G>A
|
rs1332044735
|
0.00001
|
NM_032193.4(RNASEH2C):c.468+17T>C
|
rs777249456
|
0.00001
|
NM_032193.4(RNASEH2C):c.468+18T>C
|
rs774537118
|
0.00001
|
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr)
|
rs759118175
|
0.00001
|
NM_032193.4(RNASEH2C):c.489G>A (p.Glu163=)
|
rs373524507
|
0.00001
|
NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly)
|
rs771823743
|
0.00001
|
NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe)
|
rs1261921914
|
0.00001
|
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile)
|
rs1234973794
|
0.00001
|
NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=)
|
rs1419001598
|
0.00001
|
NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu)
|
rs11557810
|
0.00001
|
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser)
|
rs765715997
|
0.00001
|
NM_033629.6(TREX1):c.138C>T (p.Ser46=)
|
rs895463771
|
0.00001
|
NM_033629.6(TREX1):c.212T>C (p.Val71Ala)
|
rs145208844
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser)
|
rs986003279
|
0.00001
|
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu)
|
rs561454996
|
0.00001
|
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr)
|
rs748535974
|
0.00001
|
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr)
|
rs1158056849
|
0.00001
|
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro)
|
rs2040338083
|
0.00001
|
NM_033629.6(TREX1):c.281C>T (p.Ala94Val)
|
rs774538797
|
0.00001
|
NM_033629.6(TREX1):c.282G>A (p.Ala94=)
|
rs374854957
|
0.00001
|
NM_033629.6(TREX1):c.284A>G (p.His95Arg)
|
rs368972486
|
0.00001
|
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser)
|
rs763817243
|
0.00001
|
NM_033629.6(TREX1):c.294A>G (p.Gln98=)
|
rs2040339926
|
0.00001
|
NM_033629.6(TREX1):c.29C>A (p.Pro10His)
|
rs1460993756
|
0.00001
|
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile)
|
rs770158462
|
0.00001
|
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)
|
rs760838030
|
0.00001
|
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu)
|
rs765151974
|
0.00001
|
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter)
|
rs747399274
|
0.00001
|
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys)
|
rs199614534
|
0.00001
|
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr)
|
rs200510205
|
0.00001
|
NM_033629.6(TREX1):c.417T>C (p.Ala139=)
|
rs561010257
|
0.00001
|
NM_033629.6(TREX1):c.418A>G (p.Met140Val)
|
rs761526437
|
0.00001
|
NM_033629.6(TREX1):c.427C>G (p.Leu143Val)
|
rs576033124
|
0.00001
|
NM_033629.6(TREX1):c.429C>T (p.Leu143=)
|
rs1300401892
|
0.00001
|
NM_033629.6(TREX1):c.459G>A (p.Val153=)
|
rs901216260
|
0.00001
|
NM_033629.6(TREX1):c.474G>A (p.Ala158=)
|
rs373876183
|
0.00001
|
NM_033629.6(TREX1):c.477G>A (p.Leu159=)
|
rs376018168
|
0.00001
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn)
|
rs200309956
|
0.00001
|
NM_033629.6(TREX1):c.501C>T (p.Ser167=)
|
rs149789575
|
0.00001
|
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly)
|
rs759481016
|
0.00001
|
NM_033629.6(TREX1):c.522G>A (p.Arg174=)
|
rs1310282311
|
0.00001
|
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys)
|
rs1479030388
|
0.00001
|
NM_033629.6(TREX1):c.543C>T (p.Ser181=)
|
rs948439253
|
0.00001
|
NM_033629.6(TREX1):c.582G>A (p.Ser194=)
|
rs747560892
|
0.00001
|
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala)
|
rs1176739791
|
0.00001
|
NM_033629.6(TREX1):c.588G>A (p.Thr196=)
|
rs781221615
|
0.00001
|
NM_033629.6(TREX1):c.590C>T (p.Ala197Val)
|
rs201954133
|
0.00001
|
NM_033629.6(TREX1):c.5G>T (p.Gly2Val)
|
rs199519507
|
0.00001
|
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg)
|
rs769993269
|
0.00001
|
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr)
|
rs1356174769
|
0.00001
|
NM_033629.6(TREX1):c.627G>A (p.Gln209=)
|
rs748970378
|
0.00001
|
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro)
|
rs142082672
|
0.00001
|
NM_033629.6(TREX1):c.690G>A (p.Arg230=)
|
rs55691060
|
0.00001
|
NM_033629.6(TREX1):c.695T>G (p.Met232Arg)
|
rs373284647
|
0.00001
|
NM_033629.6(TREX1):c.740C>T (p.Ala247Val)
|
rs201503409
|
0.00001
|
NM_033629.6(TREX1):c.767del (p.Thr256fs)
|
rs1302856977
|
0.00001
|
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn)
|
rs1225568750
|
0.00001
|
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)
|
rs867148059
|
0.00001
|
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe)
|
rs11548268
|
0.00001
|
NM_033629.6(TREX1):c.81C>G (p.Ser27=)
|
rs1308074815
|
0.00001
|
NM_033629.6(TREX1):c.828G>A (p.Val276=)
|
rs149654159
|
0.00001
|
NM_033629.6(TREX1):c.833A>T (p.Asp278Val)
|
rs2040383072
|
0.00001
|
NM_033629.6(TREX1):c.846A>G (p.Leu282=)
|
rs374232562
|
0.00001
|
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser)
|
rs1407557314
|
0.00001
|
NM_033629.6(TREX1):c.877C>G (p.Leu293Val)
|
rs759839987
|
0.00001
|
NM_033629.6(TREX1):c.879G>C (p.Leu293=)
|
rs368090024
|
0.00001
|
NM_033629.6(TREX1):c.885C>T (p.Ala295=)
|
rs775937744
|
0.00001
|
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)
|
rs76224909
|
0.00001
|
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg)
|
rs772805032
|
0.00001
|
NM_033629.6(TREX1):c.95C>T (p.Thr32Met)
|
rs755138065
|
0.00001
|
NM_033629.6(TREX1):c.9G>A (p.Ser3=)
|
rs762687506
|
0.00001
|
NM_080628.3(TLDC2):c.*18-34C>G
|
rs570535296
|
0.00001
|
NM_080628.3(TLDC2):c.*18-578G>A
|
rs1414917474
|
0.00001
|
NC_000001.10:g.(?_154422067)_(154580482_?)del
|
|
|
NC_000001.10:g.(?_154557262)_(154557840_?)dup
|
|
|
NC_000001.10:g.(?_154569261)_(154571081_?)dup
|
|
|
NC_000002.11:g.(?_163123710)_(163174817_?)del
|
|
|
NC_000002.11:g.(?_163123710)_(163174817_?)dup
|
|
|
NC_000002.11:g.(?_163128716)_(163134858_?)del
|
|
|
NC_000002.11:g.(?_163128856)_(163131721_?)del
|
|
|
NC_000002.11:g.(?_163163199)_(163163385_?)del
|
|
|
NC_000002.12:g.(?_162288115)_(162288375_?)del
|
|
|
NC_000003.11:g.(?_48507870)_(50340407_?)del
|
|
|
NC_000011.10:g.65720153_65720165del
|
|
|
NC_000011.9:g.(?_64973914)_(70052579_?)dup
|
|
|
NC_000011.9:g.(?_65325080)_(65639825_?)del
|
|
|
NC_000013.10:g.(?_51484213)_(51484296_?)del
|
|
|
NC_000013.10:g.(?_51501523)_(51530610_?)del
|
|
|
NC_000013.10:g.(?_51528021)_(51530610_?)del
|
|
|
NC_000013.11:g.(?_50953885)_(50956494_?)del
|
|
|
NC_000013.11:g.50929475_50929477del
|
|
|
NC_000019.9:g.(?_12917488)_(13010355_?)dup
|
|
|
NC_000019.9:g.(?_12923877)_(12924280_?)del
|
|
|
NC_000019.9:g.(?_12923877)_(12924280_?)dup
|
|
|
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
|
|
|
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
|
|
|
NC_000020.10:g.(?_35521335)_(35526967_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35540975_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35580046_?)del
|
|
|
NC_000020.10:g.(?_35526205)_(35580046_?)dup
|
|
|
NC_000020.10:g.(?_35532550)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35539601)_(35547942_?)dup
|
|
|
NC_000020.10:g.(?_35539601)_(35580066_?)dup
|
|
|
NC_000020.10:g.(?_35545105)_(35547942_?)del
|
|
|
NC_000020.10:g.(?_35545115)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35547747)_(35547942_?)del
|
|
|
NC_000020.10:g.(?_35555575)_(35559288_?)del
|
|
|
NC_000020.10:g.(?_35559143)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35559143)_(35575227_?)dup
|
|
|
NC_000020.10:g.(?_35563412)_(35563612_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35569534_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35580046_?)dup
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)dup
|
|
|
NC_000020.10:g.(?_35569422)_(36500415_?)dup
|
|
|
NC_000020.10:g.(?_35569432)_(35569524_?)dup
|
|
|
NC_000020.10:g.(?_35575121)_(35580046_?)del
|
|
|
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
|
|
|
NC_000020.11:g.(?_36892912)_(36898564_?)dup
|
|
|
NC_000020.11:g.(?_36927172)_(36927262_?)dup
|
|
|
NC_000020.11:g.(?_36930750)_(36930885_?)dup
|
|
|
NC_000020.11:g.(?_36946728)_(36951653_?)del
|
|
|
NC_000020.11:g.(?_36951416)_(36951663_?)del
|
|
|
NC_000020.11:g.(?_36951426)_(36951653_?)del
|
|
|
NC_000020.11:g.(?_36951436)_(36951643_?)del
|
|
|
NC_000020.11:g.36904246CCT[1]
|
|
|
NC_000020.11:g.36935169_36935190dup
|
|
|
NM_001111.5(ADAR):c.1000C>G (p.Leu334Val)
|
rs1697885743
|
|
NM_001111.5(ADAR):c.1000C>T (p.Leu334=)
|
|
|
NM_001111.5(ADAR):c.1000del (p.Val333_Leu334insTer)
|
|
|
NM_001111.5(ADAR):c.1002A>G (p.Leu334=)
|
|
|
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn)
|
rs763575197
|
|
NM_001111.5(ADAR):c.1009A>G (p.Met337Val)
|
|
|
NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)
|
|
|
NM_001111.5(ADAR):c.1025A>T (p.Asp342Val)
|
|
|
NM_001111.5(ADAR):c.1027G>A (p.Val343Ile)
|
|
|
NM_001111.5(ADAR):c.1034G>A (p.Arg345Lys)
|
|
|
NM_001111.5(ADAR):c.1041G>T (p.Gly347=)
|
rs2101640517
|
|
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala)
|
rs1456341426
|
|
NM_001111.5(ADAR):c.1042A>T (p.Thr348Ser)
|
rs1456341426
|
|
NM_001111.5(ADAR):c.1046C>T (p.Thr349Ile)
|
|
|
NM_001111.5(ADAR):c.1047C>G (p.Thr349=)
|
|
|
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser)
|
rs1557886901
|
|
NM_001111.5(ADAR):c.1055T>C (p.Ile352Thr)
|
|
|
NM_001111.5(ADAR):c.1056A>G (p.Ile352Met)
|
|
|
NM_001111.5(ADAR):c.1063T>A (p.Leu355Met)
|
|
|
NM_001111.5(ADAR):c.1071C>T (p.Asp357=)
|
|
|
NM_001111.5(ADAR):c.1072AAG[1] (p.Lys359del)
|
|
|
NM_001111.5(ADAR):c.1073A>G (p.Lys358Arg)
|
|
|
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs)
|
rs398122898
|
|
NM_001111.5(ADAR):c.107C>T (p.Pro36Leu)
|
|
|
NM_001111.5(ADAR):c.1081G>A (p.Glu361Lys)
|
|
|
NM_001111.5(ADAR):c.1085G>A (p.Arg362Lys)
|
rs2101640193
|
|
NM_001111.5(ADAR):c.1089G>A (p.Met363Ile)
|
rs1697874197
|
|
NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)
|
|
|
NM_001111.5(ADAR):c.1099A>G (p.Arg367Gly)
|
|
|
NM_001111.5(ADAR):c.1103A>G (p.Asn368Ser)
|
|
|
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile)
|
rs1553213121
|
|
NM_001111.5(ADAR):c.1106C>G (p.Thr369Arg)
|
rs958924655
|
|
NM_001111.5(ADAR):c.1106C>T (p.Thr369Met)
|
rs958924655
|
|
NM_001111.5(ADAR):c.1108A>G (p.Asn370Asp)
|
|
|
NM_001111.5(ADAR):c.110G>T (p.Ser37Ile)
|
|
|
NM_001111.5(ADAR):c.1110C>G (p.Asn370Lys)
|
rs1222101959
|
|
NM_001111.5(ADAR):c.1112G>A (p.Ser371Asn)
|
|
|
NM_001111.5(ADAR):c.1113T>C (p.Ser371=)
|
rs780284489
|
|
NM_001111.5(ADAR):c.1122A>G (p.Glu374=)
|
rs2101639912
|
|
NM_001111.5(ADAR):c.1126G>A (p.Ala376Thr)
|
|
|
NM_001111.5(ADAR):c.1126G>T (p.Ala376Ser)
|
|
|
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala)
|
rs1571107810
|
|
NM_001111.5(ADAR):c.112A>T (p.Ser38Cys)
|
|
|
NM_001111.5(ADAR):c.1132G>T (p.Ala378Ser)
|
|
|
NM_001111.5(ADAR):c.1138A>G (p.Ile380Val)
|
|
|
NM_001111.5(ADAR):c.1140C>A (p.Ile380=)
|
|
|
NM_001111.5(ADAR):c.1146G>C (p.Glu382Asp)
|
|
|
NM_001111.5(ADAR):c.114T>C (p.Ser38=)
|
|
|
NM_001111.5(ADAR):c.1154G>A (p.Arg385Lys)
|
|
|
NM_001111.5(ADAR):c.1155A>G (p.Arg385=)
|
rs996186256
|
|
NM_001111.5(ADAR):c.115T>G (p.Phe39Val)
|
rs1697956017
|
|
NM_001111.5(ADAR):c.1161A>C (p.Ala387=)
|
|
|
NM_001111.5(ADAR):c.1163A>G (p.Glu388Gly)
|
|
|
NM_001111.5(ADAR):c.1168C>T (p.Leu390Phe)
|
|
|
NM_001111.5(ADAR):c.116T>G (p.Phe39Cys)
|
|
|
NM_001111.5(ADAR):c.1170C>T (p.Leu390=)
|
|
|
NM_001111.5(ADAR):c.1171A>G (p.Thr391Ala)
|
|
|
NM_001111.5(ADAR):c.1173C>T (p.Thr391=)
|
rs1697866090
|
|
NM_001111.5(ADAR):c.1175G>A (p.Cys392Tyr)
|
|
|
NM_001111.5(ADAR):c.1178A>G (p.Asn393Ser)
|
rs1697865468
|
|
NM_001111.5(ADAR):c.1180A>G (p.Ile394Val)
|
|
|
NM_001111.5(ADAR):c.1188A>G (p.Thr396=)
|
rs2101639424
|
|
NM_001111.5(ADAR):c.118C>T (p.Leu40=)
|
rs2101645710
|
|
NM_001111.5(ADAR):c.1193A>G (p.Asn398Ser)
|
|
|
NM_001111.5(ADAR):c.11G>C (p.Arg4Pro)
|
|
|
NM_001111.5(ADAR):c.1208T>C (p.Met403Thr)
|
rs2101639346
|
|
NM_001111.5(ADAR):c.1209G>A (p.Met403Ile)
|
|
|
NM_001111.5(ADAR):c.1210G>A (p.Val404Ile)
|
|
|
NM_001111.5(ADAR):c.1211T>C (p.Val404Ala)
|
rs2101639317
|
|
NM_001111.5(ADAR):c.1213A>G (p.Thr405Ala)
|
|
|
NM_001111.5(ADAR):c.1217C>G (p.Thr406Arg)
|
rs1571107399
|
|
NM_001111.5(ADAR):c.1222A>G (p.Lys408Glu)
|
|
|
NM_001111.5(ADAR):c.1223A>G (p.Lys408Arg)
|
|
|
NM_001111.5(ADAR):c.122T>C (p.Leu41Pro)
|
|
|
NM_001111.5(ADAR):c.1230G>A (p.Glu410=)
|
|
|
NM_001111.5(ADAR):c.1232A>C (p.Asn411Thr)
|
|
|
NM_001111.5(ADAR):c.1236G>T (p.Gly412=)
|
|
|
NM_001111.5(ADAR):c.123T>G (p.Leu41=)
|
|
|
NM_001111.5(ADAR):c.1241A>C (p.Glu414Ala)
|
|
|
NM_001111.5(ADAR):c.1242A>G (p.Glu414=)
|
|
|
NM_001111.5(ADAR):c.1246G>A (p.Val416Ile)
|
|
|
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe)
|
rs1697861504
|
|
NM_001111.5(ADAR):c.1263C>T (p.Asn421=)
|
rs2101639149
|
|
NM_001111.5(ADAR):c.1267C>G (p.Gln423Glu)
|
rs1697861124
|
|
NM_001111.5(ADAR):c.1274C>T (p.Ala425Val)
|
|
|
NM_001111.5(ADAR):c.127C>G (p.Gln43Glu)
|
rs1697954006
|
|
NM_001111.5(ADAR):c.1281A>G (p.Pro427=)
|
rs147766807
|
|
NM_001111.5(ADAR):c.1294C>T (p.Leu432=)
|
|
|
NM_001111.5(ADAR):c.12G>T (p.Arg4=)
|
|
|
NM_001111.5(ADAR):c.1300C>G (p.Pro434Ala)
|
|
|
NM_001111.5(ADAR):c.1304C>T (p.Pro435Leu)
|
|
|
NM_001111.5(ADAR):c.130A>G (p.Ile44Val)
|
|
|
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys)
|
rs1571107070
|
|
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp)
|
rs1274234563
|
|
NM_001111.5(ADAR):c.1319G>T (p.Gly440Val)
|
|
|
NM_001111.5(ADAR):c.1322C>T (p.Pro441Leu)
|
|
|
NM_001111.5(ADAR):c.1323C>T (p.Pro441=)
|
rs2101638838
|
|
NM_001111.5(ADAR):c.1327A>G (p.Lys443Glu)
|
rs1697857226
|
|
NM_001111.5(ADAR):c.133G>T (p.Glu45Ter)
|
|
|
NM_001111.5(ADAR):c.134A>T (p.Glu45Val)
|
|
|
NM_001111.5(ADAR):c.1359G>A (p.Gln453=)
|
|
|
NM_001111.5(ADAR):c.1370A>G (p.Asp457Gly)
|
|
|
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn)
|
rs759763367
|
|
NM_001111.5(ADAR):c.1377C>T (p.Ile459=)
|
|
|
NM_001111.5(ADAR):c.1399C>T (p.Arg467Cys)
|
|
|
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser)
|
rs761708272
|
|
NM_001111.5(ADAR):c.1405G>T (p.Ala469Ser)
|
rs886045343
|
|
NM_001111.5(ADAR):c.1410A>G (p.Pro470=)
|
|
|
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter)
|
rs121912421
|
|
NM_001111.5(ADAR):c.1422A>T (p.Arg474=)
|
rs1571106622
|
|
NM_001111.5(ADAR):c.142A>G (p.Lys48Glu)
|
|
|
NM_001111.5(ADAR):c.1437G>T (p.Met479Ile)
|
rs2101638407
|
|
NM_001111.5(ADAR):c.1445T>C (p.Phe482Ser)
|
|
|
NM_001111.5(ADAR):c.1449C>T (p.Tyr483=)
|
|
|
NM_001111.5(ADAR):c.1450A>G (p.Ser484Gly)
|
rs886045342
|
|
NM_001111.5(ADAR):c.1454A>G (p.His485Arg)
|
|
|
NM_001111.5(ADAR):c.1462C>A (p.Pro488Thr)
|
|
|
NM_001111.5(ADAR):c.1465C>T (p.Arg489Trp)
|
|
|
NM_001111.5(ADAR):c.1466G>C (p.Arg489Pro)
|
|
|
NM_001111.5(ADAR):c.1468T>A (p.Cys490Ser)
|
|
|
NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter)
|
|
|
NM_001111.5(ADAR):c.1472C>T (p.Ser491Leu)
|
|
|
NM_001111.5(ADAR):c.1475C>T (p.Pro492Leu)
|
rs1697847597
|
|
NM_001111.5(ADAR):c.1476C>T (p.Pro492=)
|
|
|
NM_001111.5(ADAR):c.1478A>G (p.Tyr493Cys)
|
rs1697847223
|
|
NM_001111.5(ADAR):c.147G>A (p.Gly49=)
|
|
|
NM_001111.5(ADAR):c.1480A>G (p.Lys494Glu)
|
rs2101638093
|
|
NM_001111.5(ADAR):c.1485A>G (p.Lys495=)
|
|
|
NM_001111.5(ADAR):c.1490C>T (p.Thr497Ile)
|
|
|
NM_001111.5(ADAR):c.1497C>T (p.Cys499=)
|
|
|
NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)
|
|
|
NM_001111.5(ADAR):c.15+10G>A
|
rs58655370
|
|
NM_001111.5(ADAR):c.15+13G>C
|
rs1206051413
|
|
NM_001111.5(ADAR):c.15+15C>A
|
|
|
NM_001111.5(ADAR):c.15+15C>T
|
|
|
NM_001111.5(ADAR):c.15+4A>G
|
rs2101670089
|
|
NM_001111.5(ADAR):c.15+6C>G
|
|
|
NM_001111.5(ADAR):c.15+6C>T
|
rs1698312357
|
|
NM_001111.5(ADAR):c.15+7C>T
|
|
|
NM_001111.5(ADAR):c.15+8G>A
|
|
|
NM_001111.5(ADAR):c.1503G>A (p.Leu501=)
|
rs1697845438
|
|
NM_001111.5(ADAR):c.1518C>T (p.Ser506=)
|
|
|
NM_001111.5(ADAR):c.1524G>A (p.Leu508=)
|
|
|
NM_001111.5(ADAR):c.1524G>T (p.Leu508=)
|
rs765013076
|
|
NM_001111.5(ADAR):c.1526T>C (p.Leu509Ser)
|
rs1697844160
|
|
NM_001111.5(ADAR):c.1534G>A (p.Ala512Thr)
|
rs2101637881
|
|
NM_001111.5(ADAR):c.1543G>A (p.Ala515Thr)
|
rs200830156
|
|
NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn)
|
rs1457807318
|
|
NM_001111.5(ADAR):c.1565A>G (p.Asn522Ser)
|
|
|
NM_001111.5(ADAR):c.1566C>T (p.Asn522=)
|
rs763259702
|
|
NM_001111.5(ADAR):c.1569G>A (p.Met523Ile)
|
|
|
NM_001111.5(ADAR):c.1570A>G (p.Ile524Val)
|
|
|
NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)
|
|
|
NM_001111.5(ADAR):c.1577A>G (p.Gln526Arg)
|
rs770224427
|
|
NM_001111.5(ADAR):c.1593T>C (p.His531=)
|
rs1464950742
|
|
NM_001111.5(ADAR):c.16-14G>A
|
|
|
NM_001111.5(ADAR):c.16-17A>G
|
|
|
NM_001111.5(ADAR):c.16-23_16-20del
|
rs2101646423
|
|
NM_001111.5(ADAR):c.1601+17G>A
|
|
|
NM_001111.5(ADAR):c.1601+17dup
|
rs1380359166
|
|
NM_001111.5(ADAR):c.1601+19A>G
|
rs1697836508
|
|
NM_001111.5(ADAR):c.1602-13A>G
|
|
|
NM_001111.5(ADAR):c.1602-14C>G
|
rs752746420
|
|
NM_001111.5(ADAR):c.1602-17A>G
|
rs756044090
|
|
NM_001111.5(ADAR):c.1602-19C>G
|
|
|
NM_001111.5(ADAR):c.1602-19_1602-18del
|
|
|
NM_001111.5(ADAR):c.1602-2A>G
|
|
|
NM_001111.5(ADAR):c.1602-9T>C
|
|
|
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg)
|
rs1571096481
|
|
NM_001111.5(ADAR):c.1623C>A (p.Ile541=)
|
|
|
NM_001111.5(ADAR):c.1630C>A (p.Arg544=)
|
rs768943773
|
|
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter)
|
rs768943773
|
|
NM_001111.5(ADAR):c.1631G>A (p.Arg544Gln)
|
|
|
NM_001111.5(ADAR):c.1634A>G (p.Glu545Gly)
|
|
|
NM_001111.5(ADAR):c.1636T>C (p.Phe546Leu)
|
|
|
NM_001111.5(ADAR):c.1645G>A (p.Ala549Thr)
|
rs892495161
|
|
NM_001111.5(ADAR):c.1646C>G (p.Ala549Gly)
|
|
|
NM_001111.5(ADAR):c.165G>C (p.Pro55=)
|
|
|
NM_001111.5(ADAR):c.165G>T (p.Pro55=)
|
rs570176840
|
|
NM_001111.5(ADAR):c.1660A>G (p.Lys554Glu)
|
|
|
NM_001111.5(ADAR):c.1667T>C (p.Val556Ala)
|
|
|
NM_001111.5(ADAR):c.1679A>T (p.Asp560Val)
|
|
|
NM_001111.5(ADAR):c.1681G>A (p.Ala561Thr)
|
|
|
NM_001111.5(ADAR):c.1687A>C (p.Met563Leu)
|
|
|
NM_001111.5(ADAR):c.1687A>G (p.Met563Val)
|
|
|
NM_001111.5(ADAR):c.1696A>T (p.Met566Leu)
|
rs777616553
|
|
NM_001111.5(ADAR):c.1700C>A (p.Thr567Lys)
|
rs1205545887
|
|
NM_001111.5(ADAR):c.1700C>G (p.Thr567Arg)
|
|
|
NM_001111.5(ADAR):c.1701A>G (p.Thr567=)
|
rs2101626512
|
|
NM_001111.5(ADAR):c.1704T>A (p.Ile568=)
|
|
|
NM_001111.5(ADAR):c.1705C>G (p.Leu569Val)
|
|
|
NM_001111.5(ADAR):c.1716A>G (p.Glu572=)
|
|
|
NM_001111.5(ADAR):c.1735G>A (p.Gly579Arg)
|
rs2101626436
|
|
NM_001111.5(ADAR):c.1739A>G (p.Lys580Arg)
|
|
|
NM_001111.5(ADAR):c.1740A>T (p.Lys580Asn)
|
rs2101626421
|
|
NM_001111.5(ADAR):c.1740dup (p.Ser581fs)
|
|
|
NM_001111.5(ADAR):c.1749A>G (p.Glu583=)
|
|
|
NM_001111.5(ADAR):c.1749ATC[1] (p.Ser585del)
|
rs17843870
|
|
NM_001111.5(ADAR):c.1754C>T (p.Ser585Phe)
|
|
|
NM_001111.5(ADAR):c.1757A>G (p.His586Arg)
|
|
|
NM_001111.5(ADAR):c.1760A>C (p.Tyr587Ser)
|
|
|
NM_001111.5(ADAR):c.1760A>T (p.Tyr587Phe)
|
rs17843865
|
|
NM_001111.5(ADAR):c.1767A>G (p.Thr589=)
|
|
|
NM_001111.5(ADAR):c.1768G>C (p.Glu590Gln)
|
rs772602893
|
|
NM_001111.5(ADAR):c.1774G>A (p.Glu592Lys)
|
|
|
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys)
|
rs1203572202
|
|
NM_001111.5(ADAR):c.1785+12C>T
|
rs930199564
|
|
NM_001111.5(ADAR):c.1785+12_1785+14del
|
|
|
NM_001111.5(ADAR):c.1785+15G>A
|
|
|
NM_001111.5(ADAR):c.1785+17C>T
|
|
|
NM_001111.5(ADAR):c.1785+18A>T
|
rs769562435
|
|
NM_001111.5(ADAR):c.1785+20C>T
|
rs1697642580
|
|
NM_001111.5(ADAR):c.1785+3A>G
|
|
|
NM_001111.5(ADAR):c.1785+4G>A
|
rs1571095587
|
|
NM_001111.5(ADAR):c.1785+9C>T
|
|
|
NM_001111.5(ADAR):c.1785G>A (p.Lys595=)
|
|
|
NM_001111.5(ADAR):c.1786-14C>T
|
rs776535530
|
|
NM_001111.5(ADAR):c.1786-17TC[2]
|
rs2101624408
|
|
NM_001111.5(ADAR):c.1786-18G>A
|
rs1450079271
|
|
NM_001111.5(ADAR):c.1786-1G>C
|
|
|
NM_001111.5(ADAR):c.1786-3dup
|
|
|
NM_001111.5(ADAR):c.1795_1806del (p.Ser599_Pro602del)
|
|
|
NM_001111.5(ADAR):c.17G>C (p.Gly6Ala)
|
|
|
NM_001111.5(ADAR):c.180G>A (p.Gln60=)
|
|
|
NM_001111.5(ADAR):c.1815A>G (p.Ser605=)
|
|
|
NM_001111.5(ADAR):c.1820C>T (p.Thr607Ile)
|
|
|
NM_001111.5(ADAR):c.1824CTT[1] (p.Phe610del)
|
rs759833046
|
|
NM_001111.5(ADAR):c.1825T>C (p.Phe609Leu)
|
|
|
NM_001111.5(ADAR):c.1826T>C (p.Phe609Ser)
|
|
|
NM_001111.5(ADAR):c.1833T>A (p.Ser611=)
|
|
|
NM_001111.5(ADAR):c.1835G>A (p.Gly612Glu)
|
|
|
NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn)
|
rs766823464
|
|
NM_001111.5(ADAR):c.1846G>T (p.Val616Phe)
|
rs570647049
|
|
NM_001111.5(ADAR):c.1848C>T (p.Val616=)
|
|
|
NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr)
|
rs776484151
|
|
NM_001111.5(ADAR):c.186G>C (p.Pro62=)
|
|
|
NM_001111.5(ADAR):c.1871A>G (p.His624Arg)
|
rs1423795702
|
|
NM_001111.5(ADAR):c.1872C>T (p.His624=)
|
|
|
NM_001111.5(ADAR):c.1874A>G (p.Lys625Arg)
|
|
|
NM_001111.5(ADAR):c.1881G>A (p.Gly627=)
|
|
|
NM_001111.5(ADAR):c.1888T>C (p.Cys630Arg)
|
|
|
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys)
|
rs756241513
|
|
NM_001111.5(ADAR):c.1893A>G (p.Glu631=)
|
rs2101623732
|
|
NM_001111.5(ADAR):c.1897C>G (p.Arg633Gly)
|
rs1222149445
|
|
NM_001111.5(ADAR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_001111.5(ADAR):c.1902C>T (p.Leu634=)
|
|
|
NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg)
|
rs886045341
|
|
NM_001111.5(ADAR):c.1912G>C (p.Glu638Gln)
|
|
|
NM_001111.5(ADAR):c.1916G>T (p.Gly639Val)
|
rs979268518
|
|
NM_001111.5(ADAR):c.1924C>T (p.His642Tyr)
|
|
|
NM_001111.5(ADAR):c.1925A>G (p.His642Arg)
|
|
|
NM_001111.5(ADAR):c.1934+10A>G
|
|
|
NM_001111.5(ADAR):c.1934+11C>T
|
|
|
NM_001111.5(ADAR):c.1934+15T>A
|
|
|
NM_001111.5(ADAR):c.1934+4T>C
|
|
|
NM_001111.5(ADAR):c.1934+7C>T
|
|
|
NM_001111.5(ADAR):c.1934+8C>G
|
|
|
NM_001111.5(ADAR):c.1934+9T>C
|
|
|
NM_001111.5(ADAR):c.1935-12A>G
|
|
|
NM_001111.5(ADAR):c.1935-5G>A
|
rs2101621336
|
|
NM_001111.5(ADAR):c.1935-5G>C
|
|
|
NM_001111.5(ADAR):c.1944C>T (p.Tyr648=)
|
|
|
NM_001111.5(ADAR):c.1946G>A (p.Cys649Tyr)
|
|
|
NM_001111.5(ADAR):c.1965A>G (p.Gln655=)
|
|
|
NM_001111.5(ADAR):c.1974C>T (p.Pro658=)
|
|
|
NM_001111.5(ADAR):c.1977T>C (p.Ser659=)
|
rs1023918495
|
|
NM_001111.5(ADAR):c.1981A>C (p.Ser661Arg)
|
|
|
NM_001111.5(ADAR):c.1984G>A (p.Ala662Thr)
|
|
|
NM_001111.5(ADAR):c.1987C>T (p.Pro663Ser)
|
rs763748775
|
|
NM_001111.5(ADAR):c.1989C>G (p.Pro663=)
|
rs1375965216
|
|
NM_001111.5(ADAR):c.198T>C (p.Pro66=)
|
|
|
NM_001111.5(ADAR):c.1993A>C (p.Lys665Gln)
|
|
|
NM_001111.5(ADAR):c.1999G>A (p.Val667Met)
|
|
|
NM_001111.5(ADAR):c.1A>G (p.Met1Val)
|
rs1698314927
|
|
NM_001111.5(ADAR):c.2018C>A (p.Ala673Glu)
|
rs2101620970
|
|
NM_001111.5(ADAR):c.2026G>A (p.Ala676Thr)
|
rs2101620927
|
|
NM_001111.5(ADAR):c.202C>G (p.Leu68Val)
|
rs1280361409
|
|
NM_001111.5(ADAR):c.2030T>C (p.Met677Thr)
|
|
|
NM_001111.5(ADAR):c.2034G>C (p.Lys678Asn)
|
|
|
NM_001111.5(ADAR):c.2035G>A (p.Ala679Thr)
|
|
|
NM_001111.5(ADAR):c.204C>T (p.Leu68=)
|
|
|
NM_001111.5(ADAR):c.2051C>T (p.Ala684Val)
|
rs776658787
|
|
NM_001111.5(ADAR):c.2054C>T (p.Thr685Ile)
|
|
|
NM_001111.5(ADAR):c.205C>T (p.Pro69Ser)
|
|
|
NM_001111.5(ADAR):c.2069C>T (p.Ser690Phe)
|
rs1697555171
|
|
NM_001111.5(ADAR):c.2071G>A (p.Asp691Asn)
|
|
|
NM_001111.5(ADAR):c.2076C>T (p.Asn692=)
|
|
|
NM_001111.5(ADAR):c.2079+12T>G
|
|
|
NM_001111.5(ADAR):c.2079+18T>C
|
|
|
NM_001111.5(ADAR):c.2079+19C>G
|
|
|
NM_001111.5(ADAR):c.2079+7C>T
|
|
|
NM_001111.5(ADAR):c.2080-11T>G
|
|
|
NM_001111.5(ADAR):c.2080-15T>C
|
|
|
NM_001111.5(ADAR):c.2080-3T>C
|
rs372190707
|
|
NM_001111.5(ADAR):c.2080-6C>T
|
|
|
NM_001111.5(ADAR):c.2080-9C>A
|
|
|
NM_001111.5(ADAR):c.2082T>A (p.Pro694=)
|
|
|
NM_001111.5(ADAR):c.2083G>C (p.Glu695Gln)
|
rs1329989151
|
|
NM_001111.5(ADAR):c.2086G>A (p.Gly696Ser)
|
|
|
NM_001111.5(ADAR):c.2087G>A (p.Gly696Asp)
|
|
|
NM_001111.5(ADAR):c.2089A>G (p.Met697Val)
|
rs754593004
|
|
NM_001111.5(ADAR):c.2099A>G (p.Glu700Gly)
|
rs527888465
|
|
NM_001111.5(ADAR):c.20A>G (p.Tyr7Cys)
|
|
|
NM_001111.5(ADAR):c.2104C>T (p.Leu702Phe)
|
rs2101619925
|
|
NM_001111.5(ADAR):c.2107G>C (p.Asp703His)
|
|
|
NM_001111.5(ADAR):c.2108A>C (p.Asp703Ala)
|
rs2101619884
|
|
NM_001111.5(ADAR):c.2112C>G (p.Asn704Lys)
|
|
|
NM_001111.5(ADAR):c.2112C>T (p.Asn704=)
|
|
|
NM_001111.5(ADAR):c.2115G>C (p.Leu705Phe)
|
|
|
NM_001111.5(ADAR):c.2122A>C (p.Met708Leu)
|
rs548493468
|
|
NM_001111.5(ADAR):c.2128_2131dup (p.Asn711fs)
|
rs2101619771
|
|
NM_001111.5(ADAR):c.2130CAA[1] (p.Asn711del)
|
|
|
NM_001111.5(ADAR):c.2131A>C (p.Asn711His)
|
rs2101619763
|
|
NM_001111.5(ADAR):c.213C>A (p.Leu71=)
|
|
|
NM_001111.5(ADAR):c.213C>G (p.Leu71=)
|
rs765015055
|
|
NM_001111.5(ADAR):c.214C>T (p.Arg72Trp)
|
|
|
NM_001111.5(ADAR):c.2156T>C (p.Leu719Pro)
|
|
|
NM_001111.5(ADAR):c.2157C>G (p.Leu719=)
|
|
|
NM_001111.5(ADAR):c.2158G>A (p.Val720Met)
|
|
|
NM_001111.5(ADAR):c.2158G>C (p.Val720Leu)
|
rs759837017
|
|
NM_001111.5(ADAR):c.2161A>C (p.Arg721=)
|
|
|
NM_001111.5(ADAR):c.2172C>T (p.Asn724=)
|
|
|
NM_001111.5(ADAR):c.2179C>T (p.Pro727Ser)
|
rs2101619511
|
|
NM_001111.5(ADAR):c.2191C>G (p.Leu731Val)
|
|
|
NM_001111.5(ADAR):c.2194T>C (p.Leu732=)
|
|
|
NM_001111.5(ADAR):c.2199G>T (p.Glu733Asp)
|
|
|
NM_001111.5(ADAR):c.2203G>A (p.Ala735Thr)
|
rs2101619399
|
|
NM_001111.5(ADAR):c.2205C>T (p.Ala735=)
|
rs1697533791
|
|
NM_001111.5(ADAR):c.2208C>G (p.Arg736=)
|
|
|
NM_001111.5(ADAR):c.2208C>T (p.Arg736=)
|
rs1178329666
|
|
NM_001111.5(ADAR):c.2213A>G (p.His738Arg)
|
|
|
NM_001111.5(ADAR):c.2216G>A (p.Gly739Asp)
|
rs2101619310
|
|
NM_001111.5(ADAR):c.2217C>T (p.Gly739=)
|
|
|
NM_001111.5(ADAR):c.221G>A (p.Arg74Lys)
|
|
|
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr)
|
rs2101619298
|
|
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys)
|
rs886045345
|
|
NM_001111.5(ADAR):c.2262C>T (p.His754=)
|
|
|
NM_001111.5(ADAR):c.2265G>A (p.Glu755=)
|
|
|
NM_001111.5(ADAR):c.2268C>G (p.Pro756=)
|
|
|
NM_001111.5(ADAR):c.2270+16C>T
|
rs1188648002
|
|
NM_001111.5(ADAR):c.2270+19G>A
|
rs2101618972
|
|
NM_001111.5(ADAR):c.2270+7G>A
|
|
|
NM_001111.5(ADAR):c.2270A>G (p.Lys757Arg)
|
rs1159795340
|
|
NM_001111.5(ADAR):c.2271-18_2271-17del
|
rs1291931048
|
|
NM_001111.5(ADAR):c.2271-5C>T
|
rs2101589248
|
|
NM_001111.5(ADAR):c.227C>T (p.Pro76Leu)
|
rs1181329844
|
|
NM_001111.5(ADAR):c.2282A>T (p.Gln761Leu)
|
|
|
NM_001111.5(ADAR):c.229G>A (p.Val77Ile)
|
|
|
NM_001111.5(ADAR):c.22T>A (p.Ser8Thr)
|
|
|
NM_001111.5(ADAR):c.2302T>C (p.Trp768Arg)
|
rs1697065372
|
|
NM_001111.5(ADAR):c.2306T>A (p.Phe769Tyr)
|
|
|
NM_001111.5(ADAR):c.2309del (p.Pro770fs)
|
rs2101589045
|
|
NM_001111.5(ADAR):c.2321C>T (p.Ala774Val)
|
|
|
NM_001111.5(ADAR):c.2328C>T (p.Ser776=)
|
|
|
NM_001111.5(ADAR):c.232C>G (p.Leu78Val)
|
|
|
NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter)
|
rs2101588892
|
|
NM_001111.5(ADAR):c.234A>G (p.Leu78=)
|
rs1697944096
|
|
NM_001111.5(ADAR):c.2359G>A (p.Ala787Thr)
|
|
|
NM_001111.5(ADAR):c.2361G>A (p.Ala787=)
|
|
|
NM_001111.5(ADAR):c.2361G>C (p.Ala787=)
|
rs759585998
|
|
NM_001111.5(ADAR):c.2361G>T (p.Ala787=)
|
rs759585998
|
|
NM_001111.5(ADAR):c.2370T>C (p.Arg790=)
|
rs1200861188
|
|
NM_001111.5(ADAR):c.2376G>T (p.Leu792Phe)
|
|
|
NM_001111.5(ADAR):c.2378T>C (p.Ile793Thr)
|
|
|
NM_001111.5(ADAR):c.2384A>G (p.Glu795Gly)
|
|
|
NM_001111.5(ADAR):c.2388C>A (p.Asn796Lys)
|
rs1251582638
|
|
NM_001111.5(ADAR):c.2388C>G (p.Asn796Lys)
|
|
|
NM_001111.5(ADAR):c.2398G>A (p.Glu800Lys)
|
|
|
NM_001111.5(ADAR):c.2399A>G (p.Glu800Gly)
|
rs1697057806
|
|
NM_001111.5(ADAR):c.2401C>G (p.Arg801Gly)
|
|
|
NM_001111.5(ADAR):c.2401C>T (p.Arg801Cys)
|
|
|
NM_001111.5(ADAR):c.2402G>A (p.Arg801His)
|
rs1697057369
|
|
NM_001111.5(ADAR):c.2403C>G (p.Arg801=)
|
rs1340527860
|
|
NM_001111.5(ADAR):c.240C>T (p.Ala80=)
|
|
|
NM_001111.5(ADAR):c.2410T>A (p.Phe804Ile)
|
|
|
NM_001111.5(ADAR):c.2413A>G (p.Thr805Ala)
|
|
|
NM_001111.5(ADAR):c.2413A>T (p.Thr805Ser)
|
rs1325328855
|
|
NM_001111.5(ADAR):c.2433A>C (p.Thr811=)
|
|
|
NM_001111.5(ADAR):c.2436G>A (p.Gly812=)
|
rs2101588401
|
|
NM_001111.5(ADAR):c.2453C>G (p.Thr818Ser)
|
rs2101588346
|
|
NM_001111.5(ADAR):c.2458CTC[2] (p.Leu822del)
|
|
|
NM_001111.5(ADAR):c.2460C>T (p.Leu820=)
|
rs776037751
|
|
NM_001111.5(ADAR):c.2463C>T (p.Leu821=)
|
rs1420094696
|
|
NM_001111.5(ADAR):c.2467T>G (p.Ser823Ala)
|
|
|
NM_001111.5(ADAR):c.2476C>T (p.Pro826Ser)
|
|
|
NM_001111.5(ADAR):c.2488C>T (p.Pro830Ser)
|
|
|
NM_001111.5(ADAR):c.2489C>T (p.Pro830Leu)
|
rs1232214809
|
|
NM_001111.5(ADAR):c.2496+17T>C
|
|
|
NM_001111.5(ADAR):c.2496+20G>A
|
rs2101587979
|
|
NM_001111.5(ADAR):c.2496+35C>G
|
rs7532276
|
|
NM_001111.5(ADAR):c.2497-10T>G
|
rs2101586133
|
|
NM_001111.5(ADAR):c.2497-12T>G
|
|
|
NM_001111.5(ADAR):c.2497-14T>C
|
|
|
NM_001111.5(ADAR):c.2497-19C>A
|
|
|
NM_001111.5(ADAR):c.2497-3C>T
|
|
|
NM_001111.5(ADAR):c.2501C>T (p.Pro834Leu)
|
|
|
NM_001111.5(ADAR):c.2505C>A (p.Leu835=)
|
rs149012931
|
|
NM_001111.5(ADAR):c.2509G>A (p.Gly837Ser)
|
|
|
NM_001111.5(ADAR):c.2513G>C (p.Ser838Thr)
|
rs2101585930
|
|
NM_001111.5(ADAR):c.2514C>T (p.Ser838=)
|
rs1015474864
|
|
NM_001111.5(ADAR):c.2524G>C (p.Asp842His)
|
rs2101585854
|
|
NM_001111.5(ADAR):c.2536A>G (p.Met846Val)
|
|
|
NM_001111.5(ADAR):c.2554T>G (p.Phe852Val)
|
rs2101585739
|
|
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser)
|
rs1697011861
|
|
NM_001111.5(ADAR):c.2563C>G (p.Leu855Val)
|
|
|
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
|
|
|
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)
|
rs1571065237
|
|
NM_001111.5(ADAR):c.2565G>A (p.Leu855=)
|
|
|
NM_001111.5(ADAR):c.2565G>T (p.Leu855=)
|
rs2101585659
|
|
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)
|
rs1180888940
|
|
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)
|
|
|
NM_001111.5(ADAR):c.2583del (p.Ser862fs)
|
|
|
NM_001111.5(ADAR):c.258G>C (p.Arg86Ser)
|
|
|
NM_001111.5(ADAR):c.2592C>G (p.Leu864=)
|
rs138707431
|
|
NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys)
|
|
|
NM_001111.5(ADAR):c.2597G>A (p.Arg866His)
|
rs770937947
|
|
NM_001111.5(ADAR):c.2607G>T (p.Leu869=)
|
|
|
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr)
|
rs398122893
|
|
NM_001111.5(ADAR):c.2610C>A (p.Ala870=)
|
|
|
NM_001111.5(ADAR):c.2612C>T (p.Ala871Val)
|
rs748430309
|
|
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)
|
rs398122897
|
|
NM_001111.5(ADAR):c.2618T>C (p.Ile873Thr)
|
rs2101585327
|
|
NM_001111.5(ADAR):c.261A>G (p.Gln87=)
|
|
|
NM_001111.5(ADAR):c.2624A>G (p.Lys875Arg)
|
|
|
NM_001111.5(ADAR):c.2625A>G (p.Lys875=)
|
rs2101585294
|
|
NM_001111.5(ADAR):c.2643G>C (p.Met881Ile)
|
|
|
NM_001111.5(ADAR):c.2646T>A (p.Gly882=)
|
|
|
NM_001111.5(ADAR):c.2650G>A (p.Val884Ile)
|
|
|
NM_001111.5(ADAR):c.2652C>T (p.Val884=)
|
|
|
NM_001111.5(ADAR):c.2653G>A (p.Val885Ile)
|
|
|
NM_001111.5(ADAR):c.2661G>A (p.Leu887=)
|
|
|
NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)
|
|
|
NM_001111.5(ADAR):c.2668+10G>A
|
rs2101584941
|
|
NM_001111.5(ADAR):c.2668+13C>T
|
|
|
NM_001111.5(ADAR):c.2668+15G>A
|
|
|
NM_001111.5(ADAR):c.2668+18A>G
|
|
|
NM_001111.5(ADAR):c.2668+19C>T
|
rs2101584874
|
|
NM_001111.5(ADAR):c.2668+20A>G
|
|
|
NM_001111.5(ADAR):c.2668+4A>G
|
rs2101584990
|
|
NM_001111.5(ADAR):c.2668+6T>G
|
|
|
NM_001111.5(ADAR):c.2669-11C>T
|
|
|
NM_001111.5(ADAR):c.2669-19G>A
|
|
|
NM_001111.5(ADAR):c.2669-5C>T
|
|
|
NM_001111.5(ADAR):c.2669-8C>T
|
rs755765435
|
|
NM_001111.5(ADAR):c.2670G>A (p.Gly890=)
|
|
|
NM_001111.5(ADAR):c.2675G>A (p.Arg892His)
|
rs398122892
|
|
NM_001111.5(ADAR):c.2676C>T (p.Arg892=)
|
|
|
NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys)
|
|
|
NM_001111.5(ADAR):c.2699G>T (p.Ser900Ile)
|
rs1415969306
|
|
NM_001111.5(ADAR):c.271A>G (p.Arg91Gly)
|
|
|
NM_001111.5(ADAR):c.271del (p.Arg91fs)
|
|
|
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser)
|
rs1696974967
|
|
NM_001111.5(ADAR):c.2721T>C (p.Asn907=)
|
|
|
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr)
|
rs1557869750
|
|
NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly)
|
|
|
NM_001111.5(ADAR):c.2730T>C (p.His910=)
|
|
|
NM_001111.5(ADAR):c.2738T>C (p.Ile913Thr)
|
|
|
NM_001111.5(ADAR):c.2746C>G (p.Arg916Gly)
|
rs2101582935
|
|
NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp)
|
|
|
NM_001111.5(ADAR):c.2747G>A (p.Arg916Gln)
|
rs754785131
|
|
NM_001111.5(ADAR):c.2751A>G (p.Arg917=)
|
|
|
NM_001111.5(ADAR):c.2758A>C (p.Ile920Leu)
|
|
|
NM_001111.5(ADAR):c.2758A>G (p.Ile920Val)
|
|
|
NM_001111.5(ADAR):c.275G>T (p.Gly92Val)
|
|
|
NM_001111.5(ADAR):c.2762+6C>G
|
rs371450928
|
|
NM_001111.5(ADAR):c.2762+9G>A
|
|
|
NM_001111.5(ADAR):c.2763-10_2763-7del
|
rs2101579220
|
|
NM_001111.5(ADAR):c.2763-14C>T
|
|
|
NM_001111.5(ADAR):c.2763-1G>A
|
|
|
NM_001111.5(ADAR):c.2763-27_2763-14del
|
|
|
NM_001111.5(ADAR):c.2763-2A>G
|
rs2101579172
|
|
NM_001111.5(ADAR):c.2763-4del
|
|
|
NM_001111.5(ADAR):c.2763-7T>C
|
rs1696928206
|
|
NM_001111.5(ADAR):c.2785A>C (p.Lys929Gln)
|
rs1696926150
|
|
NM_001111.5(ADAR):c.2786A>C (p.Lys929Thr)
|
|
|
NM_001111.5(ADAR):c.2788T>C (p.Tyr930His)
|
|
|
NM_001111.5(ADAR):c.2795C>G (p.Ser932Cys)
|
rs886082285
|
|
NM_001111.5(ADAR):c.2795C>T (p.Ser932Phe)
|
rs886082285
|
|
NM_001111.5(ADAR):c.2796C>T (p.Ser932=)
|
rs2101578963
|
|
NM_001111.5(ADAR):c.2798A>G (p.Gln933Arg)
|
rs1696924755
|
|
NM_001111.5(ADAR):c.2799G>T (p.Gln933His)
|
|
|
NM_001111.5(ADAR):c.2803G>C (p.Ala935Pro)
|
rs1435318350
|
|
NM_001111.5(ADAR):c.2808G>A (p.Lys936=)
|
|
|
NM_001111.5(ADAR):c.2814T>C (p.Ser938=)
|
rs1557868655
|
|
NM_001111.5(ADAR):c.2824C>T (p.Pro942Ser)
|
rs1054969472
|
|
NM_001111.5(ADAR):c.2829T>C (p.Ala943=)
|
|
|
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln)
|
rs373564780
|
|
NM_001111.5(ADAR):c.2832G>A (p.Lys944=)
|
|
|
NM_001111.5(ADAR):c.2832G>T (p.Lys944Asn)
|
|
|
NM_001111.5(ADAR):c.283A>G (p.Arg95Gly)
|
|
|
NM_001111.5(ADAR):c.2840A>C (p.Glu947Ala)
|
|
|
NM_001111.5(ADAR):c.2842A>G (p.Lys948Glu)
|
rs2101578630
|
|
NM_001111.5(ADAR):c.2862T>A (p.Thr954=)
|
rs1386367431
|
|
NM_001111.5(ADAR):c.2868A>G (p.Ser956=)
|
|
|
NM_001111.5(ADAR):c.2872C>T (p.His958Tyr)
|
|
|
NM_001111.5(ADAR):c.2877G>A (p.Leu959=)
|
rs2101578452
|
|
NM_001111.5(ADAR):c.2879A>G (p.Tyr960Cys)
|
|
|
NM_001111.5(ADAR):c.287G>C (p.Gly96Ala)
|
|
|
NM_001111.5(ADAR):c.287G>T (p.Gly96Val)
|
|
|
NM_001111.5(ADAR):c.2885+13C>T
|
|
|
NM_001111.5(ADAR):c.2885+17_2885+18dup
|
rs762694073
|
|
NM_001111.5(ADAR):c.2886-14C>T
|
|
|
NM_001111.5(ADAR):c.2886-16C>T
|
|
|
NM_001111.5(ADAR):c.2886-19A>C
|
|
|
NM_001111.5(ADAR):c.2886-1del
|
rs1696896431
|
|
NM_001111.5(ADAR):c.2886-4dup
|
|
|
NM_001111.5(ADAR):c.2886-6T>C
|
|
|
NM_001111.5(ADAR):c.2886-9G>A
|
rs2101576846
|
|
NM_001111.5(ADAR):c.2893C>T (p.Pro965Ser)
|
|
|
NM_001111.5(ADAR):c.2894C>T (p.Pro965Leu)
|
|
|
NM_001111.5(ADAR):c.2895G>T (p.Pro965=)
|
|
|
NM_001111.5(ADAR):c.289G>A (p.Val97Met)
|
|
|
NM_001111.5(ADAR):c.2908G>A (p.Ala970Thr)
|
|
|
NM_001111.5(ADAR):c.2912T>G (p.Leu971Arg)
|
|
|
NM_001111.5(ADAR):c.2919C>T (p.Asp973=)
|
rs1187683099
|
|
NM_001111.5(ADAR):c.2922G>A (p.Lys974=)
|
|
|
NM_001111.5(ADAR):c.2926_2928del (p.Cys976del)
|
rs2101576453
|
|
NM_001111.5(ADAR):c.2928C>T (p.Cys976=)
|
|
|
NM_001111.5(ADAR):c.2929_2939dup (p.Met981fs)
|
rs2101576292
|
|
NM_001111.5(ADAR):c.292C>T (p.His98Tyr)
|
|
|
NM_001111.5(ADAR):c.2931C>T (p.Ser977=)
|
|
|
NM_001111.5(ADAR):c.2934C>T (p.Asp978=)
|
|
|
NM_001111.5(ADAR):c.2939C>T (p.Ala980Val)
|
|
|
NM_001111.5(ADAR):c.293A>G (p.His98Arg)
|
|
|
NM_001111.5(ADAR):c.2941A>G (p.Met981Val)
|
|
|
NM_001111.5(ADAR):c.2945A>C (p.Glu982Ala)
|
|
|
NM_001111.5(ADAR):c.2951C>G (p.Thr984Arg)
|
|
|
NM_001111.5(ADAR):c.2954A>G (p.Glu985Gly)
|
|
|
NM_001111.5(ADAR):c.2957C>T (p.Ser986Phe)
|
rs777129140
|
|
NM_001111.5(ADAR):c.2959C>T (p.Arg987Cys)
|
|
|
NM_001111.5(ADAR):c.2963A>G (p.His988Arg)
|
|
|
NM_001111.5(ADAR):c.2966A>G (p.Tyr989Cys)
|
|
|
NM_001111.5(ADAR):c.2967C>T (p.Tyr989=)
|
|
|
NM_001111.5(ADAR):c.296dup (p.Arg100fs)
|
|
|
NM_001111.5(ADAR):c.2973C>T (p.Val991=)
|
rs1163312977
|
|
NM_001111.5(ADAR):c.297_298inv (p.Arg100Gly)
|
|
|
NM_001111.5(ADAR):c.298_299delinsGC (p.Arg100Ala)
|
|
|
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn)
|
rs398122896
|
|
NM_001111.5(ADAR):c.3001C>T (p.Arg1001Cys)
|
|
|
NM_001111.5(ADAR):c.3002G>A (p.Arg1001His)
|
rs1571058184
|
|
NM_001111.5(ADAR):c.3003C>T (p.Arg1001=)
|
|
|
NM_001111.5(ADAR):c.3007A>G (p.Lys1003Glu)
|
|
|
NM_001111.5(ADAR):c.3019+19C>A
|
|
|
NM_001111.5(ADAR):c.3019+19dup
|
|
|
NM_001111.5(ADAR):c.3019+4A>G
|
rs2101575711
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111.5(ADAR):c.3020-10T>G
|
|
|
NM_001111.5(ADAR):c.3020-11C>G
|
|
|
NM_001111.5(ADAR):c.3020-18C>T
|
rs2101567155
|
|
NM_001111.5(ADAR):c.3020-7C>T
|
rs2101567094
|
|
NM_001111.5(ADAR):c.3025G>T (p.Gly1009Cys)
|
rs2101567036
|
|
NM_001111.5(ADAR):c.3029C>T (p.Thr1010Ile)
|
|
|
NM_001111.5(ADAR):c.303T>C (p.Ser101=)
|
|
|
NM_001111.5(ADAR):c.303T>G (p.Ser101Arg)
|
|
|
NM_001111.5(ADAR):c.3040G>T (p.Glu1014Ter)
|
|
|
NM_001111.5(ADAR):c.3042A>G (p.Glu1014=)
|
rs754169463
|
|
NM_001111.5(ADAR):c.3049G>A (p.Asp1017Asn)
|
|
|
NM_001111.5(ADAR):c.3051C>T (p.Asp1017=)
|
|
|
NM_001111.5(ADAR):c.3052A>G (p.Ile1018Val)
|
rs1696761288
|
|
NM_001111.5(ADAR):c.3055G>A (p.Val1019Met)
|
rs1696760657
|
|
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg)
|
rs1697938546
|
|
NM_001111.5(ADAR):c.3062C>T (p.Thr1021Met)
|
rs772773296
|
|
NM_001111.5(ADAR):c.3064T>C (p.Trp1022Arg)
|
|
|
NM_001111.5(ADAR):c.3067G>A (p.Asp1023Asn)
|
rs1696759083
|
|
NM_001111.5(ADAR):c.306G>A (p.Gln102=)
|
rs760509994
|
|
NM_001111.5(ADAR):c.3075T>C (p.Ile1025=)
|
|
|
NM_001111.5(ADAR):c.3076C>T (p.Arg1026Trp)
|
|
|
NM_001111.5(ADAR):c.3077G>A (p.Arg1026Gln)
|
|
|
NM_001111.5(ADAR):c.3081C>G (p.Leu1027=)
|
|
|
NM_001111.5(ADAR):c.3081C>T (p.Leu1027=)
|
rs145851568
|
|
NM_001111.5(ADAR):c.308G>A (p.Gly103Glu)
|
|
|
NM_001111.5(ADAR):c.3092T>G (p.Leu1031Arg)
|
rs2101566565
|
|
NM_001111.5(ADAR):c.3094_3095delinsTA (p.Arg1032Tyr)
|
rs2101566531
|
|
NM_001111.5(ADAR):c.309G>A (p.Gly103=)
|
rs141224623
|
|
NM_001111.5(ADAR):c.309G>T (p.Gly103=)
|
rs141224623
|
|
NM_001111.5(ADAR):c.3101T>C (p.Met1034Thr)
|
rs2101566489
|
|
NM_001111.5(ADAR):c.3105C>A (p.Ser1035=)
|
rs769697484
|
|
NM_001111.5(ADAR):c.3105C>G (p.Ser1035=)
|
rs769697484
|
|
NM_001111.5(ADAR):c.3107G>A (p.Cys1036Tyr)
|
rs761590986
|
|
NM_001111.5(ADAR):c.3108T>C (p.Cys1036=)
|
rs776645530
|
|
NM_001111.5(ADAR):c.3116A>C (p.Lys1039Thr)
|
|
|
NM_001111.5(ADAR):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_001111.5(ADAR):c.3120C>A (p.Ile1040=)
|
rs771995348
|
|
NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys)
|
rs779004315
|
|
NM_001111.5(ADAR):c.3125G>A (p.Arg1042His)
|
|
|
NM_001111.5(ADAR):c.3126C>T (p.Arg1042=)
|
|
|
NM_001111.5(ADAR):c.3141C>T (p.Gly1047=)
|
rs749566934
|
|
NM_001111.5(ADAR):c.3152C>G (p.Ala1051Gly)
|
|
|
NM_001111.5(ADAR):c.3168C>G (p.Phe1056Leu)
|
|
|
NM_001111.5(ADAR):c.3183T>C (p.Tyr1061=)
|
rs2101565921
|
|
NM_001111.5(ADAR):c.3186C>G (p.Leu1062=)
|
|
|
NM_001111.5(ADAR):c.3188A>G (p.Lys1063Arg)
|
|
|
NM_001111.5(ADAR):c.3198A>T (p.Thr1066=)
|
rs375297353
|
|
NM_001111.5(ADAR):c.3202+10C>T
|
|
|
NM_001111.5(ADAR):c.3202+12G>C
|
rs2101565655
|
|
NM_001111.5(ADAR):c.3202+1G>A
|
rs2101565765
|
|
NM_001111.5(ADAR):c.3202+6G>A
|
|
|
NM_001111.5(ADAR):c.3203-17C>T
|
|
|
NM_001111.5(ADAR):c.320G>A (p.Gly107Glu)
|
|
|
NM_001111.5(ADAR):c.320G>T (p.Gly107Val)
|
|
|
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile)
|
rs1553207540
|
|
NM_001111.5(ADAR):c.3222G>T (p.Gly1074=)
|
rs763039246
|
|
NM_001111.5(ADAR):c.3223C>T (p.His1075Tyr)
|
rs2101563703
|
|
NM_001111.5(ADAR):c.3226C>T (p.Leu1076=)
|
rs2101563671
|
|
NM_001111.5(ADAR):c.3230C>A (p.Thr1077Asn)
|
|
|
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
|
|
|
NM_001111.5(ADAR):c.3233G>A (p.Arg1078His)
|
|
|
NM_001111.5(ADAR):c.3233G>C (p.Arg1078Pro)
|
|
|
NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
|
|
|
NM_001111.5(ADAR):c.3248G>A (p.Arg1083His)
|
rs1363826622
|
|
NM_001111.5(ADAR):c.324C>T (p.Phe108=)
|
|
|
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)
|
rs2101563488
|
|
NM_001111.5(ADAR):c.3267T>C (p.Ser1089=)
|
|
|
NM_001111.5(ADAR):c.3270A>G (p.Ala1090=)
|
|
|
NM_001111.5(ADAR):c.3278A>G (p.Asp1093Gly)
|
rs1696719202
|
|
NM_001111.5(ADAR):c.3279T>G (p.Asp1093Glu)
|
|
|
NM_001111.5(ADAR):c.3286C>G (p.Arg1096Gly)
|
rs769148365
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
NM_001111.5(ADAR):c.3287G>A (p.Arg1096Gln)
|
rs747462052
|
|
NM_001111.5(ADAR):c.3289C>T (p.His1097Tyr)
|
rs200537032
|
|
NM_001111.5(ADAR):c.328C>T (p.His110Tyr)
|
|
|
NM_001111.5(ADAR):c.3290A>G (p.His1097Arg)
|
|
|
NM_001111.5(ADAR):c.329A>G (p.His110Arg)
|
|
|
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
|
|
|
NM_001111.5(ADAR):c.3301G>T (p.Val1101Phe)
|
rs2101563031
|
|
NM_001111.5(ADAR):c.3303C>T (p.Val1101=)
|
|
|
NM_001111.5(ADAR):c.3306C>T (p.Asn1102=)
|
rs1460932071
|
|
NM_001111.5(ADAR):c.3309C>T (p.His1103=)
|
|
|
NM_001111.5(ADAR):c.3315+12C>G
|
|
|
NM_001111.5(ADAR):c.3315+16T>A
|
|
|
NM_001111.5(ADAR):c.3315+6A>C
|
|
|
NM_001111.5(ADAR):c.3316-10G>T
|
rs1571047318
|
|
NM_001111.5(ADAR):c.3316-15T>G
|
rs897704364
|
|
NM_001111.5(ADAR):c.3316-16C>A
|
|
|
NM_001111.5(ADAR):c.3316-16C>T
|
|
|
NM_001111.5(ADAR):c.3316-20G>T
|
|
|
NM_001111.5(ADAR):c.3316-20del
|
|
|
NM_001111.5(ADAR):c.3316-4C>A
|
rs765304172
|
|
NM_001111.5(ADAR):c.3316-4dup
|
|
|
NM_001111.5(ADAR):c.3331A>G (p.Ile1111Val)
|
rs536100209
|
|
NM_001111.5(ADAR):c.3334T>C (p.Tyr1112His)
|
|
|
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe)
|
rs398122895
|
|
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His)
|
rs398122894
|
|
NM_001111.5(ADAR):c.3340T>A (p.Ser1114Thr)
|
|
|
NM_001111.5(ADAR):c.3343A>C (p.Lys1115Gln)
|
|
|
NM_001111.5(ADAR):c.3344A>G (p.Lys1115Arg)
|
|
|
NM_001111.5(ADAR):c.3346del (p.Arg1116fs)
|
rs1557863734
|
|
NM_001111.5(ADAR):c.3348G>A (p.Arg1116=)
|
|
|
NM_001111.5(ADAR):c.3354C>A (p.Ser1118=)
|
rs764381126
|
|
NM_001111.5(ADAR):c.3354C>G (p.Ser1118=)
|
|
|
NM_001111.5(ADAR):c.335C>T (p.Ser112Leu)
|
|
|
NM_001111.5(ADAR):c.3360G>C (p.Lys1120Asn)
|
rs1696677352
|
|
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
|
rs1571046959
|
|
NM_001111.5(ADAR):c.3376G>C (p.Val1126Leu)
|
rs1571046840
|
|
NM_001111.5(ADAR):c.337C>G (p.Pro113Ala)
|
|
|
NM_001111.5(ADAR):c.3380A>G (p.Asn1127Ser)
|
|
|
NM_001111.5(ADAR):c.3386G>A (p.Cys1129Tyr)
|
|
|
NM_001111.5(ADAR):c.3386G>T (p.Cys1129Phe)
|
|
|
NM_001111.5(ADAR):c.3393T>C (p.Ala1131=)
|
|
|
NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter)
|
|
|
NM_001111.5(ADAR):c.3404A>G (p.Asp1135Gly)
|
|
|
NM_001111.5(ADAR):c.3417G>T (p.Leu1139=)
|
|
|
NM_001111.5(ADAR):c.3420C>T (p.Asp1140=)
|
rs1696672165
|
|
NM_001111.5(ADAR):c.3421G>A (p.Gly1141Ser)
|
|
|
NM_001111.5(ADAR):c.3430G>A (p.Gly1144Ser)
|
|
|
NM_001111.5(ADAR):c.3432C>A (p.Gly1144=)
|
|
|
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=)
|
rs568610646
|
|
NM_001111.5(ADAR):c.3443+18C>T
|
|
|
NM_001111.5(ADAR):c.3443+19G>T
|
rs200649075
|
|
NM_001111.5(ADAR):c.3443+3A>T
|
rs746915200
|
|
NM_001111.5(ADAR):c.3444-10G>T
|
|
|
NM_001111.5(ADAR):c.3444-13T>G
|
|
|
NM_001111.5(ADAR):c.3444-16G>A
|
|
|
NM_001111.5(ADAR):c.3444G>A (p.Gly1148=)
|
rs2101558286
|
|
NM_001111.5(ADAR):c.3445C>T (p.Pro1149Ser)
|
rs2101558262
|
|
NM_001111.5(ADAR):c.344del (p.Gly115fs)
|
rs2101644365
|
|
NM_001111.5(ADAR):c.3452A>G (p.Asn1151Ser)
|
|
|
NM_001111.5(ADAR):c.3454G>A (p.Glu1152Lys)
|
|
|
NM_001111.5(ADAR):c.3464G>A (p.Arg1155Gln)
|
rs1304875258
|
|
NM_001111.5(ADAR):c.3466G>A (p.Val1156Ile)
|
|
|
NM_001111.5(ADAR):c.3467T>C (p.Val1156Ala)
|
|
|
NM_001111.5(ADAR):c.3471C>T (p.Ser1157=)
|
|
|
NM_001111.5(ADAR):c.3476del (p.Lys1159fs)
|
|
|
NM_001111.5(ADAR):c.3480C>T (p.Asn1160=)
|
rs2101557893
|
|
NM_001111.5(ADAR):c.3486T>C (p.Phe1162=)
|
|
|
NM_001111.5(ADAR):c.3487C>T (p.Leu1163Phe)
|
|
|
NM_001111.5(ADAR):c.348G>A (p.Arg116=)
|
|
|
NM_001111.5(ADAR):c.348G>C (p.Arg116Ser)
|
|
|
NM_001111.5(ADAR):c.3490C>T (p.Leu1164=)
|
|
|
NM_001111.5(ADAR):c.3491T>G (p.Leu1164Arg)
|
|
|
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln)
|
rs1571045177
|
|
NM_001111.5(ADAR):c.3501G>A (p.Lys1167=)
|
|
|
NM_001111.5(ADAR):c.3504C>T (p.Leu1168=)
|
rs566390171
|
|
NM_001111.5(ADAR):c.3507C>T (p.Cys1169=)
|
rs1410478087
|
|
NM_001111.5(ADAR):c.3509C>T (p.Ser1170Phe)
|
rs1696650377
|
|
NM_001111.5(ADAR):c.3516_3519del (p.Tyr1173fs)
|
|
|
NM_001111.5(ADAR):c.3529C>T (p.Leu1177=)
|
|
|
NM_001111.5(ADAR):c.3540C>T (p.Leu1180=)
|
rs368425519
|
|
NM_001111.5(ADAR):c.3541T>C (p.Ser1181Pro)
|
rs374282086
|
|
NM_001111.5(ADAR):c.3543del (p.Tyr1182fs)
|
|
|
NM_001111.5(ADAR):c.3547G>C (p.Gly1183Arg)
|
|
|
NM_001111.5(ADAR):c.3548G>T (p.Gly1183Val)
|
|
|
NM_001111.5(ADAR):c.354G>T (p.Leu118=)
|
|
|
NM_001111.5(ADAR):c.3564T>C (p.Ala1188=)
|
|
|
NM_001111.5(ADAR):c.3566C>T (p.Ala1189Val)
|
|
|
NM_001111.5(ADAR):c.3568C>G (p.Arg1190Gly)
|
rs979532140
|
|
NM_001111.5(ADAR):c.3569G>A (p.Arg1190His)
|
rs1302098873
|
|
NM_001111.5(ADAR):c.3571G>C (p.Asp1191His)
|
|
|
NM_001111.5(ADAR):c.3574T>G (p.Tyr1192Asp)
|
|
|
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys)
|
rs1064796761
|
|
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly)
|
rs986264460
|
|
NM_001111.5(ADAR):c.3598A>C (p.Lys1200Gln)
|
rs2101556953
|
|
NM_001111.5(ADAR):c.3599A>G (p.Lys1200Arg)
|
|
|
NM_001111.5(ADAR):c.35A>C (p.Tyr12Ser)
|
rs1475258937
|
|
NM_001111.5(ADAR):c.3605G>C (p.Gly1202Ala)
|
|
|
NM_001111.5(ADAR):c.3605G>T (p.Gly1202Val)
|
|
|
NM_001111.5(ADAR):c.3627G>C (p.Gly1209=)
|
|
|
NM_001111.5(ADAR):c.3632G>T (p.Trp1211Leu)
|
rs2101556867
|
|
NM_001111.5(ADAR):c.3633del (p.Asn1210_Trp1211insTer)
|
|
|
NM_001111.5(ADAR):c.3634A>G (p.Ile1212Val)
|
|
|
NM_001111.5(ADAR):c.3636T>C (p.Ile1212=)
|
|
|
NM_001111.5(ADAR):c.3641A>G (p.Lys1214Arg)
|
|
|
NM_001111.5(ADAR):c.3647A>G (p.Gln1216Arg)
|
|
|
NM_001111.5(ADAR):c.3651G>A (p.Glu1217=)
|
rs1177879091
|
|
NM_001111.5(ADAR):c.3657G>T (p.Lys1219Asn)
|
rs2101556653
|
|
NM_001111.5(ADAR):c.365G>A (p.Gly122Asp)
|
|
|
NM_001111.5(ADAR):c.3663T>C (p.Phe1221=)
|
|
|
NM_001111.5(ADAR):c.3665A>C (p.Tyr1222Ser)
|
|
|
NM_001111.5(ADAR):c.3673C>G (p.Pro1225Ala)
|
|
|
NM_001111.5(ADAR):c.375C>T (p.Cys125=)
|
|
|
NM_001111.5(ADAR):c.377T>C (p.Leu126Pro)
|
|
|
NM_001111.5(ADAR):c.382T>A (p.Ser128Thr)
|
|
|
NM_001111.5(ADAR):c.38A>T (p.Tyr13Phe)
|
|
|
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)
|
|
|
NM_001111.5(ADAR):c.396A>G (p.Glu132=)
|
rs1697933570
|
|
NM_001111.5(ADAR):c.397C>T (p.Leu133=)
|
rs1457956246
|
|
NM_001111.5(ADAR):c.400A>C (p.Ser134Arg)
|
|
|
NM_001111.5(ADAR):c.403A>G (p.Ile135Val)
|
rs1697932885
|
|
NM_001111.5(ADAR):c.406T>C (p.Tyr136His)
|
rs2101644128
|
|
NM_001111.5(ADAR):c.418G>C (p.Glu140Gln)
|
rs2101644028
|
|
NM_001111.5(ADAR):c.41C>G (p.Thr14Ser)
|
|
|
NM_001111.5(ADAR):c.422A>G (p.Gln141Arg)
|
|
|
NM_001111.5(ADAR):c.438C>T (p.Phe146=)
|
rs267598057
|
|
NM_001111.5(ADAR):c.439del (p.Leu147fs)
|
|
|
NM_001111.5(ADAR):c.44A>C (p.His15Pro)
|
rs1697961105
|
|
NM_001111.5(ADAR):c.452G>A (p.Gly151Glu)
|
|
|
NM_001111.5(ADAR):c.470C>T (p.Thr157Ile)
|
|
|
NM_001111.5(ADAR):c.475C>G (p.His159Asp)
|
rs921496664
|
|
NM_001111.5(ADAR):c.478G>C (p.Asp160His)
|
|
|
NM_001111.5(ADAR):c.483G>A (p.Leu161=)
|
|
|
NM_001111.5(ADAR):c.487G>T (p.Gly163Trp)
|
rs762094056
|
|
NM_001111.5(ADAR):c.492A>G (p.Lys164=)
|
|
|
NM_001111.5(ADAR):c.494T>A (p.Leu165His)
|
rs1697924081
|
|
NM_001111.5(ADAR):c.501T>G (p.Thr167=)
|
|
|
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr)
|
rs1571111089
|
|
NM_001111.5(ADAR):c.503C>T (p.Pro168Leu)
|
|
|
NM_001111.5(ADAR):c.511G>A (p.Glu171Lys)
|
rs2101643546
|
|
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)
|
|
|
NM_001111.5(ADAR):c.528A>G (p.Leu176=)
|
|
|
NM_001111.5(ADAR):c.529T>C (p.Tyr177His)
|
rs2101643438
|
|
NM_001111.5(ADAR):c.530A>G (p.Tyr177Cys)
|
|
|
NM_001111.5(ADAR):c.532T>A (p.Ser178Thr)
|
rs1235906378
|
|
NM_001111.5(ADAR):c.533C>T (p.Ser178Phe)
|
rs1697921275
|
|
NM_001111.5(ADAR):c.534C>G (p.Ser178=)
|
|
|
NM_001111.5(ADAR):c.552G>A (p.Lys184=)
|
|
|
NM_001111.5(ADAR):c.559A>G (p.Lys187Glu)
|
rs1697919383
|
|
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu)
|
rs1697917766
|
|
NM_001111.5(ADAR):c.593C>A (p.Ala198Glu)
|
|
|
NM_001111.5(ADAR):c.593C>T (p.Ala198Val)
|
|
|
NM_001111.5(ADAR):c.595G>A (p.Val199Ile)
|
|
|
NM_001111.5(ADAR):c.597C>G (p.Val199=)
|
|
|
NM_001111.5(ADAR):c.599C>G (p.Ser200Cys)
|
|
|
NM_001111.5(ADAR):c.605A>G (p.Gln202Arg)
|
|
|
NM_001111.5(ADAR):c.615C>A (p.Asn205Lys)
|
rs770367924
|
|
NM_001111.5(ADAR):c.621C>G (p.His207Gln)
|
|
|
NM_001111.5(ADAR):c.622A>G (p.Ser208Gly)
|
|
|
NM_001111.5(ADAR):c.629T>A (p.Val210Glu)
|
|
|
NM_001111.5(ADAR):c.633A>G (p.Val211=)
|
|
|
NM_001111.5(ADAR):c.640G>A (p.Asp214Asn)
|
|
|
NM_001111.5(ADAR):c.641A>G (p.Asp214Gly)
|
rs2101642759
|
|
NM_001111.5(ADAR):c.643G>C (p.Gly215Arg)
|
|
|
NM_001111.5(ADAR):c.643_789del (p.Gly215_Asp263del)
|
rs2101641836
|
|
NM_001111.5(ADAR):c.645T>C (p.Gly215=)
|
|
|
NM_001111.5(ADAR):c.648T>C (p.His216=)
|
|
|
NM_001111.5(ADAR):c.649dup (p.Ser217fs)
|
|
|
NM_001111.5(ADAR):c.651C>G (p.Ser217Arg)
|
|
|
NM_001111.5(ADAR):c.658G>A (p.Ala220Thr)
|
|
|
NM_001111.5(ADAR):c.658_804del (p.Ala220_Gly268del)
|
|
|
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile)
|
rs1557887942
|
|
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs)
|
rs1571110158
|
|
NM_001111.5(ADAR):c.670G>A (p.Asp224Asn)
|
|
|
NM_001111.5(ADAR):c.672C>A (p.Asp224Glu)
|
|
|
NM_001111.5(ADAR):c.672C>T (p.Asp224=)
|
|
|
NM_001111.5(ADAR):c.673C>T (p.Pro225Ser)
|
rs759905537
|
|
NM_001111.5(ADAR):c.674C>T (p.Pro225Leu)
|
|
|
NM_001111.5(ADAR):c.677G>A (p.Ser226Asn)
|
|
|
NM_001111.5(ADAR):c.686C>G (p.Pro229Arg)
|
|
|
NM_001111.5(ADAR):c.687G>T (p.Pro229=)
|
rs762320645
|
|
NM_001111.5(ADAR):c.690A>G (p.Glu230=)
|
rs1386707218
|
|
NM_001111.5(ADAR):c.694A>G (p.Arg232Gly)
|
|
|
NM_001111.5(ADAR):c.696A>G (p.Arg232=)
|
|
|
NM_001111.5(ADAR):c.69A>G (p.Arg23=)
|
rs2101646039
|
|
NM_001111.5(ADAR):c.701C>A (p.Ser234Tyr)
|
rs769223848
|
|
NM_001111.5(ADAR):c.705A>G (p.Thr235=)
|
|
|
NM_001111.5(ADAR):c.714A>C (p.Ser238=)
|
rs747829977
|
|
NM_001111.5(ADAR):c.718G>C (p.Asp240His)
|
rs1374526080
|
|
NM_001111.5(ADAR):c.721C>T (p.Leu241Phe)
|
|
|
NM_001111.5(ADAR):c.721CTT[1] (p.Leu242del)
|
|
|
NM_001111.5(ADAR):c.722T>G (p.Leu241Arg)
|
|
|
NM_001111.5(ADAR):c.734T>C (p.Phe245Ser)
|
|
|
NM_001111.5(ADAR):c.737T>G (p.Ile246Ser)
|
|
|
NM_001111.5(ADAR):c.73C>T (p.Leu25Phe)
|
|
|
NM_001111.5(ADAR):c.741A>C (p.Ala247=)
|
|
|
NM_001111.5(ADAR):c.749C>T (p.Ala250Val)
|
|
|
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter)
|
rs2101642015
|
|
NM_001111.5(ADAR):c.75C>G (p.Leu25=)
|
|
|
NM_001111.5(ADAR):c.763C>T (p.Gln255Ter)
|
rs2101641985
|
|
NM_001111.5(ADAR):c.769A>C (p.Ser257Arg)
|
|
|
NM_001111.5(ADAR):c.771C>G (p.Ser257Arg)
|
|
|
NM_001111.5(ADAR):c.774A>G (p.Gly258=)
|
|
|
NM_001111.5(ADAR):c.779T>A (p.Val260Glu)
|
|
|
NM_001111.5(ADAR):c.785C>T (p.Pro262Leu)
|
|
|
NM_001111.5(ADAR):c.790A>G (p.Ser264Gly)
|
rs1451687174
|
|
NM_001111.5(ADAR):c.792T>G (p.Ser264Arg)
|
|
|
NM_001111.5(ADAR):c.7C>G (p.Pro3Ala)
|
rs1313399962
|
|
NM_001111.5(ADAR):c.7C>T (p.Pro3Ser)
|
rs1313399962
|
|
NM_001111.5(ADAR):c.805T>G (p.Ser269Ala)
|
|
|
NM_001111.5(ADAR):c.811A>G (p.Asn271Asp)
|
rs1223076895
|
|
NM_001111.5(ADAR):c.823G>T (p.Gly275Cys)
|
rs867384981
|
|
NM_001111.5(ADAR):c.824G>A (p.Gly275Asp)
|
|
|
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly)
|
rs1557887436
|
|
NM_001111.5(ADAR):c.84G>A (p.Gln28=)
|
|
|
NM_001111.5(ADAR):c.851C>T (p.Thr284Ile)
|
|
|
NM_001111.5(ADAR):c.858C>T (p.Ala286=)
|
|
|
NM_001111.5(ADAR):c.85C>T (p.Gln29Ter)
|
rs2101645916
|
|
NM_001111.5(ADAR):c.865G>C (p.Asp289His)
|
|
|
NM_001111.5(ADAR):c.867T>G (p.Asp289Glu)
|
|
|
NM_001111.5(ADAR):c.879T>G (p.Phe293Leu)
|
|
|
NM_001111.5(ADAR):c.891C>T (p.Ala297=)
|
|
|
NM_001111.5(ADAR):c.894G>A (p.Glu298=)
|
|
|
NM_001111.5(ADAR):c.89C>G (p.Pro30Arg)
|
rs2101645907
|
|
NM_001111.5(ADAR):c.906A>T (p.Lys302Asn)
|
|
|
NM_001111.5(ADAR):c.912C>T (p.Cys304=)
|
|
|
NM_001111.5(ADAR):c.915C>G (p.Asp305Glu)
|
|
|
NM_001111.5(ADAR):c.925A>G (p.Asn309Asp)
|
|
|
NM_001111.5(ADAR):c.926A>G (p.Asn309Ser)
|
|
|
NM_001111.5(ADAR):c.929dup (p.Ser311fs)
|
rs2101641171
|
|
NM_001111.5(ADAR):c.930G>T (p.Val310=)
|
|
|
NM_001111.5(ADAR):c.931T>A (p.Ser311Thr)
|
rs1697893231
|
|
NM_001111.5(ADAR):c.939C>T (p.Ser313=)
|
|
|
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser)
|
rs765669048
|
|
NM_001111.5(ADAR):c.946C>G (p.Leu316Val)
|
|
|
NM_001111.5(ADAR):c.947T>C (p.Leu316Pro)
|
|
|
NM_001111.5(ADAR):c.957T>C (p.Ala319=)
|
|
|
NM_001111.5(ADAR):c.968G>A (p.Gly323Asp)
|
|
|
NM_001111.5(ADAR):c.978G>A (p.Lys326=)
|
|
|
NM_001111.5(ADAR):c.981C>T (p.Ala327=)
|
|
|
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter)
|
rs1322905273
|
|
NM_001111.5(ADAR):c.987T>C (p.Asp329=)
|
|
|
NM_001111.5(ADAR):c.988A>G (p.Ile330Val)
|
rs2101640846
|
|
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu)
|
rs1571113228
|
|
NM_001111.5(ADAR):c.993T>C (p.Asn331=)
|
rs2101640808
|
|
NM_001142279.2(RNASEH2B):c.-293A>G
|
rs1879223372
|
|
NM_001142279.2(RNASEH2B):c.-294C>T
|
rs1879223150
|
|
NM_001142279.2(RNASEH2B):c.-313C>G
|
rs886050287
|
|
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp)
|
rs1428846232
|
|
NM_006397.3(RNASEH2A):c.*69G>A
|
rs969808573
|
|
NM_006397.3(RNASEH2A):c.*93A>G
|
rs528209678
|
|
NM_006397.3(RNASEH2A):c.-69G>A
|
rs1968991813
|
|
NM_006397.3(RNASEH2A):c.102T>C (p.Asp34=)
|
|
|
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)
|
rs76857106
|
|
NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys)
|
rs2145824177
|
|
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His)
|
rs1968997110
|
|
NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu)
|
rs2145824200
|
|
NM_006397.3(RNASEH2A):c.120C>A (p.Pro40=)
|
rs754428850
|
|
NM_006397.3(RNASEH2A):c.120C>G (p.Pro40=)
|
rs754428850
|
|
NM_006397.3(RNASEH2A):c.120C>T (p.Pro40=)
|
|
|
NM_006397.3(RNASEH2A):c.123G>C (p.Val41=)
|
|
|
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg)
|
rs1792077195
|
|
NM_006397.3(RNASEH2A):c.127+10T>A
|
|
|
NM_006397.3(RNASEH2A):c.127+12G>T
|
|
|
NM_006397.3(RNASEH2A):c.127+15C>T
|
|
|
NM_006397.3(RNASEH2A):c.127+17A>G
|
rs751674576
|
|
NM_006397.3(RNASEH2A):c.127+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.127+7C>T
|
|
|
NM_006397.3(RNASEH2A):c.127+8C>T
|
|
|
NM_006397.3(RNASEH2A):c.127+9C>T
|
|
|
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg)
|
rs1252576410
|
|
NM_006397.3(RNASEH2A):c.128-11C>G
|
rs751799260
|
|
NM_006397.3(RNASEH2A):c.128-12C>T
|
|
|
NM_006397.3(RNASEH2A):c.128-13C>A
|
|
|
NM_006397.3(RNASEH2A):c.128-14C>A
|
|
|
NM_006397.3(RNASEH2A):c.128-20C>T
|
|
|
NM_006397.3(RNASEH2A):c.128-20del
|
|
|
NM_006397.3(RNASEH2A):c.128-4C>A
|
|
|
NM_006397.3(RNASEH2A):c.128-4C>G
|
|
|
NM_006397.3(RNASEH2A):c.128G>T (p.Gly43Val)
|
rs755133697
|
|
NM_006397.3(RNASEH2A):c.132C>A (p.Pro44=)
|
|
|
NM_006397.3(RNASEH2A):c.138C>T (p.Val46=)
|
|
|
NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)
|
|
|
NM_006397.3(RNASEH2A):c.141C>T (p.Tyr47=)
|
rs951143348
|
|
NM_006397.3(RNASEH2A):c.146_148dup (p.Ile49_Cys50insPhe)
|
rs2145824522
|
|
NM_006397.3(RNASEH2A):c.15G>A (p.Glu5=)
|
|
|
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val)
|
rs771789854
|
|
NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)
|
|
|
NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys)
|
rs1969003412
|
|
NM_006397.3(RNASEH2A):c.167G>T (p.Arg56Leu)
|
rs761841313
|
|
NM_006397.3(RNASEH2A):c.169C>T (p.Leu57=)
|
|
|
NM_006397.3(RNASEH2A):c.16C>T (p.Leu6=)
|
rs2145823986
|
|
NM_006397.3(RNASEH2A):c.177T>C (p.Asp59=)
|
|
|
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)
|
rs373301983
|
|
NM_006397.3(RNASEH2A):c.181_189del (p.Glu61_Leu63del)
|
rs1969003682
|
|
NM_006397.3(RNASEH2A):c.186G>A (p.Ala62=)
|
|
|
NM_006397.3(RNASEH2A):c.186G>T (p.Ala62=)
|
|
|
NM_006397.3(RNASEH2A):c.187C>T (p.Leu63=)
|
|
|
NM_006397.3(RNASEH2A):c.18G>A (p.Leu6=)
|
|
|
NM_006397.3(RNASEH2A):c.196G>T (p.Ala66Ser)
|
rs2145824584
|
|
NM_006397.3(RNASEH2A):c.199+12G>T
|
|
|
NM_006397.3(RNASEH2A):c.199+17C>G
|
rs543028866
|
|
NM_006397.3(RNASEH2A):c.199+18G>A
|
|
|
NM_006397.3(RNASEH2A):c.199+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.199+8C>T
|
rs200834484
|
|
NM_006397.3(RNASEH2A):c.199+9G>A
|
|
|
NM_006397.3(RNASEH2A):c.199+9G>T
|
|
|
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
|
|
|
NM_006397.3(RNASEH2A):c.200-12A>T
|
rs2145824725
|
|
NM_006397.3(RNASEH2A):c.200-15C>T
|
|
|
NM_006397.3(RNASEH2A):c.200-16C>G
|
|
|
NM_006397.3(RNASEH2A):c.200-1G>T
|
|
|
NM_006397.3(RNASEH2A):c.200-20T>G
|
|
|
NM_006397.3(RNASEH2A):c.200-6_200-4del
|
rs1181055837
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.207G>A (p.Lys69=)
|
|
|
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs)
|
rs77672568
|
|
NM_006397.3(RNASEH2A):c.210C>A (p.Thr70=)
|
rs1335849179
|
|
NM_006397.3(RNASEH2A):c.210C>T (p.Thr70=)
|
rs1335849179
|
|
NM_006397.3(RNASEH2A):c.213A>G (p.Leu71=)
|
rs779678489
|
|
NM_006397.3(RNASEH2A):c.214T>C (p.Leu72=)
|
|
|
NM_006397.3(RNASEH2A):c.217G>A (p.Glu73Lys)
|
|
|
NM_006397.3(RNASEH2A):c.219G>A (p.Glu73=)
|
|
|
NM_006397.3(RNASEH2A):c.219G>C (p.Glu73Asp)
|
rs754532258
|
|
NM_006397.3(RNASEH2A):c.21G>A (p.Glu7=)
|
|
|
NM_006397.3(RNASEH2A):c.222C>A (p.Ser74Arg)
|
|
|
NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter)
|
rs753695101
|
|
NM_006397.3(RNASEH2A):c.226C>T (p.Arg76Trp)
|
rs1969006970
|
|
NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln)
|
rs747608935
|
|
NM_006397.3(RNASEH2A):c.228G>T (p.Arg76=)
|
rs1568386709
|
|
NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)
|
|
|
NM_006397.3(RNASEH2A):c.231A>G (p.Glu77=)
|
|
|
NM_006397.3(RNASEH2A):c.234G>A (p.Arg78=)
|
|
|
NM_006397.3(RNASEH2A):c.237G>A (p.Leu79=)
|
|
|
NM_006397.3(RNASEH2A):c.242C>G (p.Ala81Gly)
|
|
|
NM_006397.3(RNASEH2A):c.247A>G (p.Met83Val)
|
|
|
NM_006397.3(RNASEH2A):c.25G>A (p.Asp9Asn)
|
|
|
NM_006397.3(RNASEH2A):c.261C>G (p.Asp87Glu)
|
rs776835503
|
|
NM_006397.3(RNASEH2A):c.263_267dup (p.Gly90fs)
|
|
|
NM_006397.3(RNASEH2A):c.268G>A (p.Gly90Ser)
|
rs773318256
|
|
NM_006397.3(RNASEH2A):c.268G>T (p.Gly90Cys)
|
|
|
NM_006397.3(RNASEH2A):c.276G>C (p.Ala92=)
|
|
|
NM_006397.3(RNASEH2A):c.276G>T (p.Ala92=)
|
|
|
NM_006397.3(RNASEH2A):c.286C>T (p.Leu96=)
|
rs2145824903
|
|
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe)
|
rs1457758264
|
|
NM_006397.3(RNASEH2A):c.297C>T (p.Asn99=)
|
|
|
NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser)
|
rs1555734300
|
|
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu)
|
rs2145824951
|
|
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.323+10C>T
|
|
|
NM_006397.3(RNASEH2A):c.323+11C>T
|
|
|
NM_006397.3(RNASEH2A):c.323+13C>T
|
rs748345143
|
|
NM_006397.3(RNASEH2A):c.323+1G>A
|
rs1388246689
|
|
NM_006397.3(RNASEH2A):c.323G>A (p.Arg108Gln)
|
rs1232764867
|
|
NM_006397.3(RNASEH2A):c.323G>C (p.Arg108Pro)
|
|
|
NM_006397.3(RNASEH2A):c.324-10C>G
|
|
|
NM_006397.3(RNASEH2A):c.324-10C>T
|
rs773495954
|
|
NM_006397.3(RNASEH2A):c.324-17T>G
|
|
|
NM_006397.3(RNASEH2A):c.324-37_324-10del
|
|
|
NM_006397.3(RNASEH2A):c.324-5C>G
|
|
|
NM_006397.3(RNASEH2A):c.324-6C>A
|
rs1599533222
|
|
NM_006397.3(RNASEH2A):c.324-7A>G
|
|
|
NM_006397.3(RNASEH2A):c.325G>A (p.Val109Ile)
|
|
|
NM_006397.3(RNASEH2A):c.333C>T (p.Tyr111=)
|
rs764935201
|
|
NM_006397.3(RNASEH2A):c.336C>T (p.Asn112=)
|
rs906764918
|
|
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met)
|
rs1969010870
|
|
NM_006397.3(RNASEH2A):c.339_343dup (p.Ser115Ter)
|
|
|
NM_006397.3(RNASEH2A):c.345C>T (p.Ser115=)
|
|
|
NM_006397.3(RNASEH2A):c.346C>T (p.Leu116=)
|
rs1599533254
|
|
NM_006397.3(RNASEH2A):c.346del (p.Leu116fs)
|
|
|
NM_006397.3(RNASEH2A):c.348G>A (p.Leu116=)
|
|
|
NM_006397.3(RNASEH2A):c.351A>G (p.Ser117=)
|
|
|
NM_006397.3(RNASEH2A):c.354T>C (p.His118=)
|
|
|
NM_006397.3(RNASEH2A):c.359C>T (p.Thr120Ile)
|
|
|
NM_006397.3(RNASEH2A):c.363C>T (p.Ala121=)
|
|
|
NM_006397.3(RNASEH2A):c.373A>C (p.Ile125Leu)
|
rs1969011556
|
|
NM_006397.3(RNASEH2A):c.378G>A (p.Gln126=)
|
|
|
NM_006397.3(RNASEH2A):c.381T>C (p.Tyr127=)
|
rs1381895095
|
|
NM_006397.3(RNASEH2A):c.385T>C (p.Leu129=)
|
|
|
NM_006397.3(RNASEH2A):c.38G>T (p.Arg13Leu)
|
rs1289383180
|
|
NM_006397.3(RNASEH2A):c.393G>C (p.Gln131His)
|
rs2145825149
|
|
NM_006397.3(RNASEH2A):c.397G>A (p.Val133Met)
|
rs1969012072
|
|
NM_006397.3(RNASEH2A):c.411+10C>T
|
|
|
NM_006397.3(RNASEH2A):c.411+12_411+13del
|
rs892250160
|
|
NM_006397.3(RNASEH2A):c.411+14A>G
|
|
|
NM_006397.3(RNASEH2A):c.411+15A>T
|
|
|
NM_006397.3(RNASEH2A):c.412-11T>G
|
|
|
NM_006397.3(RNASEH2A):c.412-18T>C
|
|
|
NM_006397.3(RNASEH2A):c.412-20T>C
|
|
|
NM_006397.3(RNASEH2A):c.412-7G>A
|
|
|
NM_006397.3(RNASEH2A):c.412G>A (p.Val138Ile)
|
|
|
NM_006397.3(RNASEH2A):c.414A>G (p.Val138=)
|
|
|
NM_006397.3(RNASEH2A):c.417C>A (p.Phe139Leu)
|
rs201413125
|
|
NM_006397.3(RNASEH2A):c.418G>A (p.Val140Met)
|
|
|
NM_006397.3(RNASEH2A):c.422A>G (p.Asp141Gly)
|
rs967836212
|
|
NM_006397.3(RNASEH2A):c.426C>G (p.Thr142=)
|
|
|
NM_006397.3(RNASEH2A):c.441G>A (p.Glu147=)
|
|
|
NM_006397.3(RNASEH2A):c.441G>T (p.Glu147Asp)
|
rs772640456
|
|
NM_006397.3(RNASEH2A):c.445T>C (p.Tyr149His)
|
|
|
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter)
|
|
|
NM_006397.3(RNASEH2A):c.447C>T (p.Tyr149=)
|
|
|
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His)
|
rs1968995083
|
|
NM_006397.3(RNASEH2A):c.450G>A (p.Gln150=)
|
|
|
NM_006397.3(RNASEH2A):c.456G>A (p.Arg152=)
|
|
|
NM_006397.3(RNASEH2A):c.459G>C (p.Leu153=)
|
|
|
NM_006397.3(RNASEH2A):c.45C>A (p.Arg15=)
|
|
|
NM_006397.3(RNASEH2A):c.471dup (p.Pro158fs)
|
|
|
NM_006397.3(RNASEH2A):c.483G>A (p.Glu161=)
|
rs754899919
|
|
NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)
|
|
|
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys)
|
rs1262482666
|
|
NM_006397.3(RNASEH2A):c.519G>A (p.Pro173=)
|
|
|
NM_006397.3(RNASEH2A):c.522G>A (p.Val174=)
|
|
|
NM_006397.3(RNASEH2A):c.523G>A (p.Val175Ile)
|
|
|
NM_006397.3(RNASEH2A):c.528T>A (p.Ser176Arg)
|
rs1419883149
|
|
NM_006397.3(RNASEH2A):c.530C>T (p.Ala177Val)
|
rs2145827698
|
|
NM_006397.3(RNASEH2A):c.539T>A (p.Ile180Asn)
|
|
|
NM_006397.3(RNASEH2A):c.543_544del (p.Ala182fs)
|
|
|
NM_006397.3(RNASEH2A):c.549+10dup
|
|
|
NM_006397.3(RNASEH2A):c.549+13C>A
|
|
|
NM_006397.3(RNASEH2A):c.549+17C>T
|
rs1354190203
|
|
NM_006397.3(RNASEH2A):c.549+19A>G
|
|
|
NM_006397.3(RNASEH2A):c.549+19A>T
|
|
|
NM_006397.3(RNASEH2A):c.549+1G>A
|
|
|
NM_006397.3(RNASEH2A):c.549+1G>T
|
|
|
NM_006397.3(RNASEH2A):c.549+4A>G
|
|
|
NM_006397.3(RNASEH2A):c.549+9C>T
|
|
|
NM_006397.3(RNASEH2A):c.54G>T (p.Ser18=)
|
|
|
NM_006397.3(RNASEH2A):c.550-13G>A
|
rs560268310
|
|
NM_006397.3(RNASEH2A):c.550-16C>G
|
|
|
NM_006397.3(RNASEH2A):c.550-16C>T
|
|
|
NM_006397.3(RNASEH2A):c.550-4A>C
|
|
|
NM_006397.3(RNASEH2A):c.550-8G>A
|
|
|
NM_006397.3(RNASEH2A):c.550-9T>C
|
|
|
NM_006397.3(RNASEH2A):c.550-9T>G
|
|
|
NM_006397.3(RNASEH2A):c.550-9dup
|
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006397.3(RNASEH2A):c.566C>A (p.Ala189Asp)
|
rs1448707577
|
|
NM_006397.3(RNASEH2A):c.567C>G (p.Ala189=)
|
|
|
NM_006397.3(RNASEH2A):c.567C>T (p.Ala189=)
|
|
|
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala)
|
rs1969055468
|
|
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg)
|
rs748699424
|
|
NM_006397.3(RNASEH2A):c.586G>A (p.Val196Met)
|
|
|
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs)
|
rs781284373
|
|
NM_006397.3(RNASEH2A):c.591G>A (p.Glu197=)
|
|
|
NM_006397.3(RNASEH2A):c.592A>G (p.Lys198Glu)
|
rs2145827897
|
|
NM_006397.3(RNASEH2A):c.595C>T (p.Leu199=)
|
|
|
NM_006397.3(RNASEH2A):c.603C>T (p.Asp201=)
|
rs868054183
|
|
NM_006397.3(RNASEH2A):c.604T>C (p.Leu202=)
|
|
|
NM_006397.3(RNASEH2A):c.605_606inv (p.Leu202Ser)
|
|
|
NM_006397.3(RNASEH2A):c.611C>A (p.Thr204Asn)
|
|
|
NM_006397.3(RNASEH2A):c.611C>T (p.Thr204Ile)
|
|
|
NM_006397.3(RNASEH2A):c.612T>C (p.Thr204=)
|
|
|
NM_006397.3(RNASEH2A):c.613G>T (p.Asp205Tyr)
|
rs965949988
|
|
NM_006397.3(RNASEH2A):c.615T>C (p.Asp205=)
|
|
|
NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro)
|
rs2145827947
|
|
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg)
|
rs1568387884
|
|
NM_006397.3(RNASEH2A):c.627C>G (p.Gly209=)
|
|
|
NM_006397.3(RNASEH2A):c.635A>G (p.Asn212Ser)
|
rs377244188
|
|
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile)
|
rs377244188
|
|
NM_006397.3(RNASEH2A):c.636T>C (p.Asn212=)
|
rs2145827969
|
|
NM_006397.3(RNASEH2A):c.637+12C>G
|
|
|
NM_006397.3(RNASEH2A):c.637+12C>T
|
|
|
NM_006397.3(RNASEH2A):c.637+13G>T
|
|
|
NM_006397.3(RNASEH2A):c.637+18C>T
|
|
|
NM_006397.3(RNASEH2A):c.637+19A>C
|
rs375522285
|
|
NM_006397.3(RNASEH2A):c.637+19A>G
|
|
|
NM_006397.3(RNASEH2A):c.637+3G>A
|
rs1399243066
|
|
NM_006397.3(RNASEH2A):c.637+9A>G
|
|
|
NM_006397.3(RNASEH2A):c.638-14C>T
|
|
|
NM_006397.3(RNASEH2A):c.638-15C>T
|
|
|
NM_006397.3(RNASEH2A):c.638-2A>G
|
rs2145830162
|
|
NM_006397.3(RNASEH2A):c.638-4C>T
|
|
|
NM_006397.3(RNASEH2A):c.63C>T (p.Pro21=)
|
rs747090950
|
|
NM_006397.3(RNASEH2A):c.642C>T (p.Pro214=)
|
|
|
NM_006397.3(RNASEH2A):c.648A>G (p.Thr216=)
|
|
|
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter)
|
rs2145830181
|
|
NM_006397.3(RNASEH2A):c.660G>A (p.Leu220=)
|
|
|
NM_006397.3(RNASEH2A):c.665A>T (p.Glu222Val)
|
|
|
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu)
|
rs1321788478
|
|
NM_006397.3(RNASEH2A):c.672G>A (p.Val224=)
|
|
|
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu)
|
rs79767407
|
|
NM_006397.3(RNASEH2A):c.701T>G (p.Val234Gly)
|
|
|
NM_006397.3(RNASEH2A):c.702C>A (p.Val234=)
|
|
|
NM_006397.3(RNASEH2A):c.705G>A (p.Arg235=)
|
rs1969097772
|
|
NM_006397.3(RNASEH2A):c.705G>C (p.Arg235=)
|
|
|
NM_006397.3(RNASEH2A):c.705del (p.Phe236fs)
|
|
|
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs)
|
rs78705193
|
|
NM_006397.3(RNASEH2A):c.717C>A (p.Arg239=)
|
|
|
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs)
|
rs1403542725
|
|
NM_006397.3(RNASEH2A):c.723C>T (p.Ala241=)
|
|
|
NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)
|
|
|
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu)
|
rs758719669
|
|
NM_006397.3(RNASEH2A):c.747G>C (p.Ala249=)
|
|
|
NM_006397.3(RNASEH2A):c.747G>T (p.Ala249=)
|
rs144494263
|
|
NM_006397.3(RNASEH2A):c.749A>C (p.Glu250Ala)
|
rs1157218789
|
|
NM_006397.3(RNASEH2A):c.74G>A (p.Arg25His)
|
rs955631391
|
|
NM_006397.3(RNASEH2A):c.74G>T (p.Arg25Leu)
|
rs955631391
|
|
NM_006397.3(RNASEH2A):c.757A>G (p.Ile253Val)
|
|
|
NM_006397.3(RNASEH2A):c.759A>G (p.Ile253Met)
|
|
|
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)
|
rs397515479
|
|
NM_006397.3(RNASEH2A):c.761+11T>C
|
|
|
NM_006397.3(RNASEH2A):c.761+12G>A
|
|
|
NM_006397.3(RNASEH2A):c.761+12G>T
|
rs1969099251
|
|
NM_006397.3(RNASEH2A):c.761+13G>A
|
|
|
NM_006397.3(RNASEH2A):c.761+14A>T
|
|
|
NM_006397.3(RNASEH2A):c.761+18C>T
|
rs2145830337
|
|
NM_006397.3(RNASEH2A):c.761+20T>C
|
rs2145830339
|
|
NM_006397.3(RNASEH2A):c.761+20dup
|
|
|
NM_006397.3(RNASEH2A):c.762-11C>G
|
|
|
NM_006397.3(RNASEH2A):c.762-14C>A
|
|
|
NM_006397.3(RNASEH2A):c.762-14C>G
|
rs1297237306
|
|
NM_006397.3(RNASEH2A):c.762-18A>G
|
|
|
NM_006397.3(RNASEH2A):c.762-5C>T
|
|
|
NM_006397.3(RNASEH2A):c.762-9C>A
|
|
|
NM_006397.3(RNASEH2A):c.764A>C (p.Glu255Ala)
|
|
|
NM_006397.3(RNASEH2A):c.773C>T (p.Ala258Val)
|
|
|
NM_006397.3(RNASEH2A):c.774A>G (p.Ala258=)
|
rs1599537429
|
|
NM_006397.3(RNASEH2A):c.791G>A (p.Gly264Glu)
|
|
|
NM_006397.3(RNASEH2A):c.792A>G (p.Gly264=)
|
rs1969102244
|
|
NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)
|
|
|
NM_006397.3(RNASEH2A):c.813C>T (p.Tyr271=)
|
|
|
NM_006397.3(RNASEH2A):c.816C>T (p.Phe272=)
|
rs2145830480
|
|
NM_006397.3(RNASEH2A):c.81G>A (p.Glu27=)
|
|
|
NM_006397.3(RNASEH2A):c.822T>C (p.Asn274=)
|
|
|
NM_006397.3(RNASEH2A):c.825A>G (p.Glu275=)
|
|
|
NM_006397.3(RNASEH2A):c.828G>C (p.Gly276=)
|
|
|
NM_006397.3(RNASEH2A):c.833A>C (p.Gln278Pro)
|
|
|
NM_006397.3(RNASEH2A):c.836C>G (p.Ala279Gly)
|
rs2145830509
|
|
NM_006397.3(RNASEH2A):c.838C>A (p.Arg280Ser)
|
|
|
NM_006397.3(RNASEH2A):c.83C>A (p.Pro28His)
|
rs1568386452
|
|
NM_006397.3(RNASEH2A):c.843C>T (p.Pro281=)
|
|
|
NM_006397.3(RNASEH2A):c.848C>G (p.Ser283Cys)
|
|
|
NM_006397.3(RNASEH2A):c.852C>A (p.Ser284=)
|
|
|
NM_006397.3(RNASEH2A):c.854A>C (p.His285Pro)
|
|
|
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln)
|
rs1568388876
|
|
NM_006397.3(RNASEH2A):c.856C>T (p.Arg286Ter)
|
rs1286615636
|
|
NM_006397.3(RNASEH2A):c.857G>T (p.Arg286Leu)
|
|
|
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)
|
|
|
NM_006397.3(RNASEH2A):c.864C>T (p.Phe288=)
|
|
|
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs)
|
rs1969104623
|
|
NM_006397.3(RNASEH2A):c.869A>T (p.Glu290Val)
|
rs1425963270
|
|
NM_006397.3(RNASEH2A):c.870A>G (p.Glu290=)
|
|
|
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu)
|
rs75037667
|
|
NM_006397.3(RNASEH2A):c.874G>C (p.Gly292Arg)
|
|
|
NM_006397.3(RNASEH2A):c.877C>T (p.Leu293=)
|
|
|
NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)
|
|
|
NM_006397.3(RNASEH2A):c.87C>T (p.Cys29=)
|
|
|
NM_006397.3(RNASEH2A):c.881A>G (p.Glu294Gly)
|
rs2145830589
|
|
NM_006397.3(RNASEH2A):c.882G>A (p.Glu294=)
|
|
|
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr)
|
rs1438193575
|
|
NM_006397.3(RNASEH2A):c.884C>T (p.Ser295Leu)
|
rs1969105528
|
|
NM_006397.3(RNASEH2A):c.886G>A (p.Ala296Thr)
|
rs1243574081
|
|
NM_006397.3(RNASEH2A):c.889A>G (p.Thr297Ala)
|
rs775006544
|
|
NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)
|
|
|
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)
|
|
|
NM_006397.3(RNASEH2A):c.96C>A (p.Gly32=)
|
|
|
NM_007248.3(TREX1):c.1033_1050del
|
rs1575295176
|
|
NM_015474.3(SAMHD1):c.-6085_209-1941del
|
|
|
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu)
|
rs2146116896
|
|
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)
|
|
|
NM_015474.4(SAMHD1):c.1014C>T (p.Ala338=)
|
rs1238026198
|
|
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu)
|
rs2063734567
|
|
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs)
|
rs752942007
|
|
NM_015474.4(SAMHD1):c.1020C>T (p.Val340=)
|
|
|
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer)
|
rs2063478568
|
|
NM_015474.4(SAMHD1):c.1023T>C (p.Cys341=)
|
rs2146116863
|
|
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)
|
|
|
NM_015474.4(SAMHD1):c.1026A>G (p.Glu342=)
|
|
|
NM_015474.4(SAMHD1):c.102G>T (p.Pro34=)
|
|
|
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)
|
|
|
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs)
|
rs2146116814
|
|
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala)
|
rs886056648
|
|
NM_015474.4(SAMHD1):c.1038G>A (p.Glu346=)
|
|
|
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp)
|
rs751026561
|
|
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)
|
|
|
NM_015474.4(SAMHD1):c.1050T>C (p.Cys350=)
|
rs1601130032
|
|
NM_015474.4(SAMHD1):c.1053T>G (p.Ala351=)
|
|
|
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
|
|
|
NM_015474.4(SAMHD1):c.1062+12C>T
|
|
|
NM_015474.4(SAMHD1):c.1062+14G>C
|
|
|
NM_015474.4(SAMHD1):c.1062+17G>A
|
rs375919445
|
|
NM_015474.4(SAMHD1):c.1062+19G>C
|
|
|
NM_015474.4(SAMHD1):c.1062+7T>C
|
rs2146116764
|
|
NM_015474.4(SAMHD1):c.1062+8G>A
|
|
|
NM_015474.4(SAMHD1):c.1063-13T>C
|
|
|
NM_015474.4(SAMHD1):c.1063-15C>A
|
|
|
NM_015474.4(SAMHD1):c.1063-16T>G
|
|
|
NM_015474.4(SAMHD1):c.1063-4G>T
|
rs2148365781
|
|
NM_015474.4(SAMHD1):c.1063-7C>T
|
|
|
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn)
|
rs546930607
|
|
NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile)
|
rs2148365764
|
|
NM_015474.4(SAMHD1):c.108G>A (p.Leu36=)
|
|
|
NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala)
|
rs1478441405
|
|
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn)
|
rs2063446998
|
|
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys)
|
rs138089277
|
|
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
|
|
|
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs)
|
rs2063446897
|
|
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser)
|
rs515726139
|
|
NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys)
|
rs774991764
|
|
NM_015474.4(SAMHD1):c.111A>G (p.Glu37=)
|
rs779493555
|
|
NM_015474.4(SAMHD1):c.1122T>C (p.Tyr374=)
|
rs1255201901
|
|
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter)
|
rs2148365710
|
|
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)
|
|
|
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)
|
|
|
NM_015474.4(SAMHD1):c.1143T>C (p.Ile381=)
|
|
|
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)
|
rs515726140
|
|
NM_015474.4(SAMHD1):c.1154+12G>A
|
|
|
NM_015474.4(SAMHD1):c.1154+12G>T
|
|
|
NM_015474.4(SAMHD1):c.1154+13A>G
|
rs2148365673
|
|
NM_015474.4(SAMHD1):c.1154+14T>C
|
|
|
NM_015474.4(SAMHD1):c.1154+15T>G
|
|
|
NM_015474.4(SAMHD1):c.1154+4A>T
|
|
|
NM_015474.4(SAMHD1):c.1155-16G>A
|
|
|
NM_015474.4(SAMHD1):c.1155-7T>G
|
rs563734052
|
|
NM_015474.4(SAMHD1):c.1155-8A>C
|
|
|
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile)
|
rs2063439054
|
|
NM_015474.4(SAMHD1):c.1161A>C (p.Thr387=)
|
|
|
NM_015474.4(SAMHD1):c.1161A>G (p.Thr387=)
|
|
|
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)
|
|
|
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
|
|
|
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
|
|
|
NM_015474.4(SAMHD1):c.1173C>T (p.Leu391=)
|
|
|
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu)
|
rs1338752164
|
|
NM_015474.4(SAMHD1):c.1179A>G (p.Ala393=)
|
|
|
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
|
|
|
NM_015474.4(SAMHD1):c.1185C>T (p.Asp395=)
|
rs2148365039
|
|
NM_015474.4(SAMHD1):c.1194G>A (p.Glu398=)
|
rs2148365027
|
|
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)
|
|
|
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val)
|
rs755673943
|
|
NM_015474.4(SAMHD1):c.1200A>G (p.Thr400=)
|
rs773943611
|
|
NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser)
|
rs2063438570
|
|
NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp)
|
rs2148364990
|
|
NM_015474.4(SAMHD1):c.120C>G (p.Pro40=)
|
|
|
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
|
|
|
NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln)
|
|
|
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
|
|
|
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr)
|
rs2063734469
|
|
NM_015474.4(SAMHD1):c.1227T>A (p.Ile409=)
|
rs2148364956
|
|
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)
|
|
|
NM_015474.4(SAMHD1):c.1230T>C (p.Ser410=)
|
rs2148364950
|
|
NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr)
|
rs1444630318
|
|
NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn)
|
|
|
NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val)
|
|
|
NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del)
|
|
|
NM_015474.4(SAMHD1):c.1254C>T (p.Ala418=)
|
rs2148364919
|
|
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
|
|
|
NM_015474.4(SAMHD1):c.1263G>A (p.Lys421=)
|
rs1601124713
|
|
NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln)
|
|
|
NM_015474.4(SAMHD1):c.1270+10A>G
|
|
|
NM_015474.4(SAMHD1):c.1270+20A>G
|
|
|
NM_015474.4(SAMHD1):c.1270+7A>T
|
rs2148364885
|
|
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)
|
|
|
NM_015474.4(SAMHD1):c.1271-13A>G
|
rs2148360651
|
|
NM_015474.4(SAMHD1):c.1271-14C>G
|
|
|
NM_015474.4(SAMHD1):c.1271-14C>T
|
|
|
NM_015474.4(SAMHD1):c.1271-18A>C
|
|
|
NM_015474.4(SAMHD1):c.1271-1G>C
|
|
|
NM_015474.4(SAMHD1):c.1271-2A>C
|
|
|
NM_015474.4(SAMHD1):c.1271-3C>T
|
|
|
NM_015474.4(SAMHD1):c.1271-5G>A
|
rs2063399774
|
|
NM_015474.4(SAMHD1):c.1275C>T (p.Asn425=)
|
rs2148360636
|
|
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter)
|
rs2146160649
|
|
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile)
|
rs2148360629
|
|
NM_015474.4(SAMHD1):c.1293A>G (p.Leu431=)
|
|
|
NM_015474.4(SAMHD1):c.129G>A (p.Lys43=)
|
rs1386913237
|
|
NM_015474.4(SAMHD1):c.12C>A (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.12C>G (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.12C>T (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.1302T>C (p.Thr434=)
|
rs747247611
|
|
NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs)
|
rs2063734360
|
|
NM_015474.4(SAMHD1):c.1312T>C (p.Leu438=)
|
rs2148360614
|
|
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)
|
rs1311797673
|
|
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs)
|
rs2063399418
|
|
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
|
|
|
NM_015474.4(SAMHD1):c.1324C>A (p.Arg442=)
|
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1329G>A (p.Glu443=)
|
|
|
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)
|
|
|
NM_015474.4(SAMHD1):c.132A>G (p.Thr44=)
|
|
|
NM_015474.4(SAMHD1):c.132A>T (p.Thr44=)
|
|
|
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs)
|
rs2148360598
|
|
NM_015474.4(SAMHD1):c.1335A>G (p.Leu445=)
|
|
|
NM_015474.4(SAMHD1):c.1344T>C (p.Ile448=)
|
rs746144991
|
|
NM_015474.4(SAMHD1):c.1365G>A (p.Lys455=)
|
|
|
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)
|
|
|
NM_015474.4(SAMHD1):c.1380G>T (p.Thr460=)
|
|
|
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr)
|
rs1215408383
|
|
NM_015474.4(SAMHD1):c.1389A>G (p.Thr463=)
|
|
|
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
|
|
|
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu)
|
rs751309562
|
|
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)
|
|
|
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])
|
|
|
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs)
|
rs1568762986
|
|
NM_015474.4(SAMHD1):c.1410+12G>A
|
|
|
NM_015474.4(SAMHD1):c.1410+12G>T
|
rs2063398513
|
|
NM_015474.4(SAMHD1):c.1410+15A>C
|
|
|
NM_015474.4(SAMHD1):c.1410+15A>G
|
|
|
NM_015474.4(SAMHD1):c.1410+17C>G
|
|
|
NM_015474.4(SAMHD1):c.1410+1G>A
|
|
|
NM_015474.4(SAMHD1):c.1410+4A>C
|
|
|
NM_015474.4(SAMHD1):c.1410+5G>T
|
rs1601119476
|
|
NM_015474.4(SAMHD1):c.1410+6dup
|
rs2148360509
|
|
NM_015474.4(SAMHD1):c.1410+8dup
|
rs2148360504
|
|
NM_015474.4(SAMHD1):c.1410+9T>C
|
|
|
NM_015474.4(SAMHD1):c.1411-11G>T
|
|
|
NM_015474.4(SAMHD1):c.1411-17A>G
|
|
|
NM_015474.4(SAMHD1):c.1411-19G>A
|
|
|
NM_015474.4(SAMHD1):c.1411-19G>T
|
|
|
NM_015474.4(SAMHD1):c.1411-20G>A
|
|
|
NM_015474.4(SAMHD1):c.1411-5T>C
|
|
|
NM_015474.4(SAMHD1):c.1411-7T>C
|
rs2148359780
|
|
NM_015474.4(SAMHD1):c.1416C>T (p.Asp472=)
|
|
|
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer)
|
rs2148359769
|
|
NM_015474.4(SAMHD1):c.141G>A (p.Pro47=)
|
|
|
NM_015474.4(SAMHD1):c.141G>C (p.Pro47=)
|
|
|
NM_015474.4(SAMHD1):c.1422A>G (p.Glu474=)
|
|
|
NM_015474.4(SAMHD1):c.1428T>A (p.Leu476=)
|
|
|
NM_015474.4(SAMHD1):c.1431A>C (p.Pro477=)
|
rs781256664
|
|
NM_015474.4(SAMHD1):c.1431A>G (p.Pro477=)
|
rs781256664
|
|
NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter)
|
rs2063392759
|
|
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1437G>A (p.Glu479=)
|
|
|
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)
|
|
|
NM_015474.4(SAMHD1):c.1443C>T (p.Ala481=)
|
|
|
NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs)
|
rs2148359722
|
|
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)
|
|
|
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)
|
|
|
NM_015474.4(SAMHD1):c.1455C>T (p.Pro485=)
|
rs879334178
|
|
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)
|
|
|
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile)
|
rs2148359709
|
|
NM_015474.4(SAMHD1):c.1464G>A (p.Leu488=)
|
|
|
NM_015474.4(SAMHD1):c.1465C>T (p.Leu489=)
|
|
|
NM_015474.4(SAMHD1):c.1467A>G (p.Leu489=)
|
rs2148359699
|
|
NM_015474.4(SAMHD1):c.1470C>T (p.Asp490=)
|
rs889518882
|
|
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)
|
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015474.4(SAMHD1):c.147G>A (p.Gln49=)
|
|
|
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)
|
|
|
NM_015474.4(SAMHD1):c.1482G>A (p.Lys494=)
|
|
|
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro)
|
rs2063392360
|
|
NM_015474.4(SAMHD1):c.1503+11A>G
|
|
|
NM_015474.4(SAMHD1):c.1503+15C>T
|
|
|
NM_015474.4(SAMHD1):c.1503+16A>C
|
|
|
NM_015474.4(SAMHD1):c.1503+1G>T
|
rs515726142
|
|
NM_015474.4(SAMHD1):c.1503+3A>C
|
|
|
NM_015474.4(SAMHD1):c.1503+9T>A
|
|
|
NM_015474.4(SAMHD1):c.1504-11C>T
|
|
|
NM_015474.4(SAMHD1):c.1504-19G>C
|
|
|
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr)
|
rs1990240962
|
|
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
|
|
|
NM_015474.4(SAMHD1):c.1521T>C (p.Tyr507=)
|
|
|
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu)
|
rs1363652608
|
|
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs)
|
rs2063734182
|
|
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn)
|
rs999709360
|
|
NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn)
|
|
|
NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His)
|
|
|
NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val)
|
|
|
NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly)
|
|
|
NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile)
|
|
|
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
|
|
|
NM_015474.4(SAMHD1):c.1557C>T (p.Ser519=)
|
|
|
NM_015474.4(SAMHD1):c.1563T>C (p.Tyr521=)
|
rs745419546
|
|
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr)
|
rs1046544176
|
|
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
|
|
|
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter)
|
rs1601113209
|
|
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)
|
|
|
NM_015474.4(SAMHD1):c.1581C>T (p.Asn527=)
|
|
|
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs)
|
rs2148355967
|
|
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met)
|
rs1354357820
|
|
NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser)
|
|
|
NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile)
|
rs2148355946
|
|
NM_015474.4(SAMHD1):c.15T>C (p.Asp5=)
|
|
|
NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr)
|
rs2148355943
|
|
NM_015474.4(SAMHD1):c.1608+10T>A
|
rs1467936950
|
|
NM_015474.4(SAMHD1):c.1608+1G>A
|
rs373731440
|
|
NM_015474.4(SAMHD1):c.1608+20A>G
|
|
|
NM_015474.4(SAMHD1):c.1608+6T>A
|
rs747508625
|
|
NM_015474.4(SAMHD1):c.1608+7A>C
|
rs2148355927
|
|
NM_015474.4(SAMHD1):c.1608+8C>G
|
|
|
NM_015474.4(SAMHD1):c.1608+9T>C
|
rs2148355926
|
|
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=)
|
rs1990238054
|
|
NM_015474.4(SAMHD1):c.1609-11A>T
|
|
|
NM_015474.4(SAMHD1):c.1609-15C>T
|
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.1609-2A>G
|
rs1700306908
|
|
NM_015474.4(SAMHD1):c.1609-2del
|
|
|
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
|
|
|
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)
|
|
|
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
|
|
|
NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=)
|
rs1990227839
|
|
NM_015474.4(SAMHD1):c.1629G>A (p.Glu543=)
|
rs1601112678
|
|
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)
|
|
|
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys)
|
rs1401777461
|
|
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys)
|
rs2148355589
|
|
NM_015474.4(SAMHD1):c.1645C>T (p.Leu549=)
|
rs2148355580
|
|
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)
|
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)
|
|
|
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp)
|
rs1442543580
|
|
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys)
|
rs2148355563
|
|
NM_015474.4(SAMHD1):c.1659T>C (p.Tyr553=)
|
|
|
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)
|
|
|
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly)
|
rs769234037
|
|
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu)
|
rs1252711773
|
|
NM_015474.4(SAMHD1):c.1674C>T (p.Asp558=)
|
rs1252711773
|
|
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)
|
|
|
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
|
|
|
NM_015474.4(SAMHD1):c.168C>T (p.Arg56=)
|
rs370376351
|
|
NM_015474.4(SAMHD1):c.1695A>C (p.Ala565=)
|
rs1012848236
|
|
NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg)
|
|
|
NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr)
|
rs1187125859
|
|
NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala)
|
rs1187125859
|
|
NM_015474.4(SAMHD1):c.1701A>G (p.Gln567=)
|
|
|
NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile)
|
rs2148355522
|
|
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys)
|
rs1990225699
|
|
NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)
|
|
|
NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)
|
|
|
NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn)
|
rs1990225210
|
|
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu)
|
rs1448113794
|
|
NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=)
|
|
|
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala)
|
rs886056647
|
|
NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg)
|
rs1255928710
|
|
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)
|
|
|
NM_015474.4(SAMHD1):c.1740G>A (p.Lys580=)
|
|
|
NM_015474.4(SAMHD1):c.1746+10C>T
|
rs2148355475
|
|
NM_015474.4(SAMHD1):c.1746+17T>C
|
|
|
NM_015474.4(SAMHD1):c.1746+17_1746+20del
|
|
|
NM_015474.4(SAMHD1):c.1746+18C>T
|
rs2148355462
|
|
NM_015474.4(SAMHD1):c.1746+4G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+4_1746+15del
|
rs1568758975
|
|
NM_015474.4(SAMHD1):c.1746+7G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+8G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+9C>A
|
|
|
NM_015474.4(SAMHD1):c.174C>T (p.Gly58=)
|
rs2146160518
|
|
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)
|
rs2148352252
|
|
NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)
|
|
|
NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)
|
|
|
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)
|
rs1990117713
|
|
NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)
|
|
|
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn)
|
rs1245985032
|
|
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
|
|
|
NM_015474.4(SAMHD1):c.180A>G (p.Glu60=)
|
|
|
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter)
|
rs747918559
|
|
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
|
|
|
NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)
|
|
|
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
|
|
|
NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=)
|
rs1601108388
|
|
NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)
|
|
|
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
|
|
|
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser)
|
rs2146160495
|
|
NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=)
|
rs2148352120
|
|
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)
|
rs2148352114
|
|
NM_015474.4(SAMHD1):c.186G>C (p.Pro62=)
|
rs2146160488
|
|
NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)
|
|
|
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
|
|
|
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
|
|
|
NM_015474.4(SAMHD1):c.18C>A (p.Ser6=)
|
|
|
NM_015474.4(SAMHD1):c.193C>T (p.Leu65=)
|
|
|
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg)
|
rs2146160474
|
|
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter)
|
rs2146160463
|
|
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser)
|
rs2063733948
|
|
NM_015474.4(SAMHD1):c.208+12G>A
|
rs200586933
|
|
NM_015474.4(SAMHD1):c.208+12G>C
|
rs200586933
|
|
NM_015474.4(SAMHD1):c.208+13G>A
|
|
|
NM_015474.4(SAMHD1):c.208+16G>T
|
|
|
NM_015474.4(SAMHD1):c.208+18G>A
|
|
|
NM_015474.4(SAMHD1):c.208+4G>A
|
rs1273248542
|
|
NM_015474.4(SAMHD1):c.209-10T>C
|
rs2146151537
|
|
NM_015474.4(SAMHD1):c.209-15dup
|
rs1600394552
|
|
NM_015474.4(SAMHD1):c.209-17T>C
|
|
|
NM_015474.4(SAMHD1):c.209-18G>A
|
|
|
NM_015474.4(SAMHD1):c.209-7T>C
|
rs2146151531
|
|
NM_015474.4(SAMHD1):c.209-9C>G
|
|
|
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)
|
|
|
NM_015474.4(SAMHD1):c.21G>A (p.Glu7=)
|
rs1479750345
|
|
NM_015474.4(SAMHD1):c.225C>A (p.Gly75=)
|
|
|
NM_015474.4(SAMHD1):c.225C>T (p.Gly75=)
|
rs527385232
|
|
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr)
|
rs141599277
|
|
NM_015474.4(SAMHD1):c.228A>G (p.Ala76=)
|
rs2063689294
|
|
NM_015474.4(SAMHD1):c.229T>C (p.Leu77=)
|
rs2146151462
|
|
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg)
|
rs149797357
|
|
NM_015474.4(SAMHD1):c.243T>G (p.Leu81=)
|
rs1316259613
|
|
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
|
|
|
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp)
|
rs2063689102
|
|
NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys)
|
|
|
NM_015474.4(SAMHD1):c.267T>G (p.Leu89=)
|
rs2146151397
|
|
NM_015474.4(SAMHD1):c.273A>G (p.Val91=)
|
|
|
NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly)
|
|
|
NM_015474.4(SAMHD1):c.275+7A>G
|
|
|
NM_015474.4(SAMHD1):c.275+9G>A
|
rs763934219
|
|
NM_015474.4(SAMHD1):c.275+9G>C
|
rs763934219
|
|
NM_015474.4(SAMHD1):c.276-11T>G
|
|
|
NM_015474.4(SAMHD1):c.276-12T>C
|
|
|
NM_015474.4(SAMHD1):c.276-13A>G
|
|
|
NM_015474.4(SAMHD1):c.276-15C>G
|
|
|
NM_015474.4(SAMHD1):c.276-16C>T
|
|
|
NM_015474.4(SAMHD1):c.276-20T>C
|
rs2063641728
|
|
NM_015474.4(SAMHD1):c.276-8A>G
|
|
|
NM_015474.4(SAMHD1):c.276-9T>C
|
|
|
NM_015474.4(SAMHD1):c.279C>T (p.Ser93=)
|
|
|
NM_015474.4(SAMHD1):c.282G>A (p.Leu94=)
|
|
|
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala)
|
rs1277922979
|
|
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)
|
|
|
NM_015474.4(SAMHD1):c.285G>A (p.Gly95=)
|
rs2146144602
|
|
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
|
|
|
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)
|
|
|
NM_015474.4(SAMHD1):c.291G>A (p.Arg97=)
|
rs1308693389
|
|
NM_015474.4(SAMHD1):c.294G>A (p.Lys98=)
|
rs535408526
|
|
NM_015474.4(SAMHD1):c.297G>A (p.Lys99=)
|
|
|
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys)
|
rs923362391
|
|
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)
|
|
|
NM_015474.4(SAMHD1):c.316C>A (p.Arg106=)
|
rs779028596
|
|
NM_015474.4(SAMHD1):c.328del (p.Ile110fs)
|
rs759706198
|
|
NM_015474.4(SAMHD1):c.330C>T (p.Ile110=)
|
|
|
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)
|
|
|
NM_015474.4(SAMHD1):c.336T>C (p.Val112=)
|
|
|
NM_015474.4(SAMHD1):c.339T>C (p.Asp113=)
|
rs2146144529
|
|
NM_015474.4(SAMHD1):c.33G>A (p.Lys11=)
|
|
|
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)
|
|
|
NM_015474.4(SAMHD1):c.348+13G>A
|
|
|
NM_015474.4(SAMHD1):c.348+14A>C
|
rs1600389905
|
|
NM_015474.4(SAMHD1):c.348+17T>G
|
rs2146144489
|
|
NM_015474.4(SAMHD1):c.348+19G>A
|
rs2063640331
|
|
NM_015474.4(SAMHD1):c.348+19_348+21del
|
rs1178558707
|
|
NM_015474.4(SAMHD1):c.348+7G>A
|
rs568011642
|
|
NM_015474.4(SAMHD1):c.348+7G>C
|
rs568011642
|
|
NM_015474.4(SAMHD1):c.349-11T>C
|
|
|
NM_015474.4(SAMHD1):c.349-11_349-10del
|
|
|
NM_015474.4(SAMHD1):c.349-14A>T
|
|
|
NM_015474.4(SAMHD1):c.349-16A>T
|
|
|
NM_015474.4(SAMHD1):c.349-18_349-15del
|
|
|
NM_015474.4(SAMHD1):c.349-1G>A
|
rs1251155562
|
|
NM_015474.4(SAMHD1):c.349-2A>T
|
rs2146137671
|
|
NM_015474.4(SAMHD1):c.349-5T>C
|
rs2063595719
|
|
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
|
|
|
NM_015474.4(SAMHD1):c.351A>G (p.Val117=)
|
|
|
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del)
|
rs515726144
|
|
NM_015474.4(SAMHD1):c.35G>A (p.Arg12His)
|
rs2146161012
|
|
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val)
|
rs757367080
|
|
NM_015474.4(SAMHD1):c.369T>C (p.His123=)
|
|
|
NM_015474.4(SAMHD1):c.381G>A (p.Glu127=)
|
|
|
NM_015474.4(SAMHD1):c.384C>G (p.Leu128=)
|
|
|
NM_015474.4(SAMHD1):c.393C>T (p.Leu131=)
|
rs2146137613
|
|
NM_015474.4(SAMHD1):c.396C>G (p.Leu132=)
|
|
|
NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile)
|
|
|
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly)
|
rs752442185
|
|
NM_015474.4(SAMHD1):c.402A>C (p.Arg134=)
|
|
|
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
|
|
|
NM_015474.4(SAMHD1):c.411T>C (p.Asp137=)
|
rs2146137550
|
|
NM_015474.4(SAMHD1):c.414A>G (p.Thr138=)
|
|
|
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
|
|
|
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)
|
|
|
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln)
|
rs515726145
|
|
NM_015474.4(SAMHD1):c.438C>T (p.Tyr146=)
|
rs2146137471
|
|
NM_015474.4(SAMHD1):c.441C>A (p.Ile147=)
|
rs201880612
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.447G>A (p.Gln149=)
|
|
|
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg)
|
rs775844501
|
|
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)
|
|
|
NM_015474.4(SAMHD1):c.459T>C (p.Gly153=)
|
rs2146137431
|
|
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs)
|
rs2063594580
|
|
NM_015474.4(SAMHD1):c.465T>C (p.Tyr155=)
|
|
|
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
|
|
|
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr)
|
rs200703816
|
|
NM_015474.4(SAMHD1):c.477A>G (p.Gly159=)
|
rs2146137401
|
|
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
|
|
|
NM_015474.4(SAMHD1):c.480T>G (p.Ala160=)
|
|
|
NM_015474.4(SAMHD1):c.48T>C (p.Asp16=)
|
rs1330443890
|
|
NM_015474.4(SAMHD1):c.490C>A (p.Arg164=)
|
rs267607027
|
|
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)
|
|
|
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser)
|
rs765879627
|
|
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs)
|
rs1601144527
|
|
NM_015474.4(SAMHD1):c.498G>A (p.Glu166=)
|
|
|
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)
|
|
|
NM_015474.4(SAMHD1):c.501T>C (p.His167=)
|
|
|
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile)
|
rs2146137354
|
|
NM_015474.4(SAMHD1):c.507A>G (p.Leu169=)
|
rs2146137349
|
|
NM_015474.4(SAMHD1):c.509+10G>A
|
rs2146137336
|
|
NM_015474.4(SAMHD1):c.509+11A>G
|
|
|
NM_015474.4(SAMHD1):c.509+14G>A
|
|
|
NM_015474.4(SAMHD1):c.509+17G>C
|
|
|
NM_015474.4(SAMHD1):c.509+8G>A
|
rs2146137337
|
|
NM_015474.4(SAMHD1):c.509+9G>A
|
|
|
NM_015474.4(SAMHD1):c.510-10T>G
|
|
|
NM_015474.4(SAMHD1):c.510-13T>G
|
rs764856158
|
|
NM_015474.4(SAMHD1):c.510-14T>C
|
|
|
NM_015474.4(SAMHD1):c.510-17G>T
|
rs1555835836
|
|
NM_015474.4(SAMHD1):c.510-18del
|
rs772577201
|
|
NM_015474.4(SAMHD1):c.510-19_510-18del
|
|
|
NM_015474.4(SAMHD1):c.510-20T>G
|
rs2146132172
|
|
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu)
|
rs2063564236
|
|
NM_015474.4(SAMHD1):c.513G>A (p.Val171=)
|
|
|
NM_015474.4(SAMHD1):c.513G>C (p.Val171=)
|
rs903077482
|
|
NM_015474.4(SAMHD1):c.516G>A (p.Gly172=)
|
rs539358895
|
|
NM_015474.4(SAMHD1):c.516G>T (p.Gly172=)
|
rs539358895
|
|
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln)
|
rs2146132117
|
|
NM_015474.4(SAMHD1):c.525A>C (p.Ala175=)
|
rs1438006542
|
|
NM_015474.4(SAMHD1):c.532C>T (p.Leu178=)
|
|
|
NM_015474.4(SAMHD1):c.534A>G (p.Leu178=)
|
rs771148482
|
|
NM_015474.4(SAMHD1):c.540C>T (p.His180=)
|
rs2146132084
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)
|
|
|
NM_015474.4(SAMHD1):c.555A>G (p.Lys185=)
|
|
|
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
|
|
|
NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr)
|
rs2146132053
|
|
NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser)
|
rs2146160927
|
|
NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val)
|
rs2146132029
|
|
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs)
|
rs1328663348
|
|
NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg)
|
rs1308458054
|
|
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
|
|
|
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu)
|
rs1303667371
|
|
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)
|
rs1303667371
|
|
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
|
|
|
NM_015474.4(SAMHD1):c.57G>C (p.Pro19=)
|
|
|
NM_015474.4(SAMHD1):c.588T>A (p.Val196=)
|
rs2146131970
|
|
NM_015474.4(SAMHD1):c.588T>C (p.Val196=)
|
|
|
NM_015474.4(SAMHD1):c.58A>C (p.Arg20=)
|
|
|
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
|
|
|
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup)
|
rs758547160
|
|
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT
|
rs2146131738
|
|
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val)
|
rs1568776699
|
|
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
|
|
|
NM_015474.4(SAMHD1):c.625+10A>T
|
|
|
NM_015474.4(SAMHD1):c.625+11C>T
|
|
|
NM_015474.4(SAMHD1):c.625+12A>G
|
|
|
NM_015474.4(SAMHD1):c.625+17G>A
|
|
|
NM_015474.4(SAMHD1):c.625+17G>C
|
|
|
NM_015474.4(SAMHD1):c.625+19C>T
|
|
|
NM_015474.4(SAMHD1):c.625+1G>A
|
rs1601141002
|
|
NM_015474.4(SAMHD1):c.625+8G>A
|
rs537246518
|
|
NM_015474.4(SAMHD1):c.626-15G>A
|
|
|
NM_015474.4(SAMHD1):c.626-1G>C
|
rs2146127849
|
|
NM_015474.4(SAMHD1):c.626-64_626-63del
|
rs529639777
|
|
NM_015474.4(SAMHD1):c.626-8T>C
|
rs2146127859
|
|
NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)
|
|
|
NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile)
|
rs760912458
|
|
NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)
|
|
|
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs)
|
rs2146127824
|
|
NM_015474.4(SAMHD1):c.63C>A (p.Thr21=)
|
|
|
NM_015474.4(SAMHD1):c.63C>G (p.Thr21=)
|
|
|
NM_015474.4(SAMHD1):c.644A>C (p.His215Pro)
|
rs772029258
|
|
NM_015474.4(SAMHD1):c.645C>T (p.His215=)
|
rs2146127828
|
|
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser)
|
rs2146127793
|
|
NM_015474.4(SAMHD1):c.657A>G (p.Gly219=)
|
rs2146127775
|
|
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
|
|
|
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser)
|
rs1235181942
|
|
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu)
|
rs1601138159
|
|
NM_015474.4(SAMHD1):c.669A>G (p.Pro223=)
|
|
|
NM_015474.4(SAMHD1):c.66C>G (p.Pro22=)
|
rs2146160870
|
|
NM_015474.4(SAMHD1):c.66del (p.Ser23fs)
|
rs1442728513
|
|
NM_015474.4(SAMHD1):c.672T>C (p.Leu224=)
|
rs2146127757
|
|
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)
|
rs778647626
|
|
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys)
|
rs778647626
|
|
NM_015474.4(SAMHD1):c.678C>T (p.Arg226=)
|
rs2146127744
|
|
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr)
|
rs886056649
|
|
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu)
|
rs753391551
|
|
NM_015474.4(SAMHD1):c.681G>T (p.Pro227=)
|
rs144587056
|
|
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
|
|
|
NM_015474.4(SAMHD1):c.687G>T (p.Val229=)
|
|
|
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
|
|
|
NM_015474.4(SAMHD1):c.690A>G (p.Lys230=)
|
rs2063541744
|
|
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter)
|
rs2063541685
|
|
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
|
|
|
NM_015474.4(SAMHD1):c.696+10C>A
|
|
|
NM_015474.4(SAMHD1):c.696+17T>C
|
|
|
NM_015474.4(SAMHD1):c.696+20A>G
|
|
|
NM_015474.4(SAMHD1):c.696+2T>C
|
|
|
NM_015474.4(SAMHD1):c.696+5G>A
|
rs1468637736
|
|
NM_015474.4(SAMHD1):c.696+7A>G
|
|
|
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
|
|
|
NM_015474.4(SAMHD1):c.697-1G>T
|
rs2146119643
|
|
NM_015474.4(SAMHD1):c.697-20A>G
|
|
|
NM_015474.4(SAMHD1):c.697-2A>G
|
|
|
NM_015474.4(SAMHD1):c.697-5C>T
|
rs780562967
|
|
NM_015474.4(SAMHD1):c.699T>C (p.His233=)
|
rs758776995
|
|
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter)
|
rs1219206348
|
|
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)
|
rs750807433
|
|
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp)
|
rs2146160848
|
|
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
|
|
|
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp)
|
rs1239766590
|
|
NM_015474.4(SAMHD1):c.741T>C (p.Ser247=)
|
|
|
NM_015474.4(SAMHD1):c.744T>C (p.Asn248=)
|
rs2146119590
|
|
NM_015474.4(SAMHD1):c.747A>C (p.Gly249=)
|
rs2146119586
|
|
NM_015474.4(SAMHD1):c.753G>A (p.Lys251=)
|
rs1331067278
|
|
NM_015474.4(SAMHD1):c.756T>C (p.Pro252=)
|
rs1601132420
|
|
NM_015474.4(SAMHD1):c.75C>G (p.Thr25=)
|
|
|
NM_015474.4(SAMHD1):c.75C>T (p.Thr25=)
|
|
|
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)
|
rs121434521
|
|
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
|
|
|
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
|
|
|
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser)
|
rs2146160814
|
|
NM_015474.4(SAMHD1):c.771T>C (p.Tyr257=)
|
|
|
NM_015474.4(SAMHD1):c.774T>C (p.Gly258=)
|
|
|
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
|
|
|
NM_015474.4(SAMHD1):c.780C>A (p.Ile260=)
|
|
|
NM_015474.4(SAMHD1):c.78T>C (p.Pro26=)
|
|
|
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=)
|
rs774333580
|
|
NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)
|
|
|
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
|
|
|
NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)
|
|
|
NM_015474.4(SAMHD1):c.810A>G (p.Glu270=)
|
rs2146119450
|
|
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
|
|
|
NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)
|
|
|
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
|
|
|
NM_015474.4(SAMHD1):c.819A>G (p.Val273=)
|
|
|
NM_015474.4(SAMHD1):c.81C>A (p.Ser27=)
|
|
|
NM_015474.4(SAMHD1):c.81C>G (p.Ser27=)
|
|
|
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu)
|
rs2063492690
|
|
NM_015474.4(SAMHD1):c.822A>G (p.Gly274=)
|
|
|
NM_015474.4(SAMHD1):c.828T>C (p.Leu276=)
|
rs2146119427
|
|
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
|
|
|
NM_015474.4(SAMHD1):c.846T>C (p.Asp282=)
|
|
|
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala)
|
rs2146119399
|
|
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
|
|
|
NM_015474.4(SAMHD1):c.849A>C (p.Ser283=)
|
rs1297061868
|
|
NM_015474.4(SAMHD1):c.84A>G (p.Ala28=)
|
|
|
NM_015474.4(SAMHD1):c.84A>T (p.Ala28=)
|
|
|
NM_015474.4(SAMHD1):c.852+11G>A
|
|
|
NM_015474.4(SAMHD1):c.852+14C>T
|
|
|
NM_015474.4(SAMHD1):c.852+15A>C
|
|
|
NM_015474.4(SAMHD1):c.852+16G>A
|
|
|
NM_015474.4(SAMHD1):c.852+17C>T
|
|
|
NM_015474.4(SAMHD1):c.852+1G>A
|
|
|
NM_015474.4(SAMHD1):c.852+1G>T
|
rs780504624
|
|
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=)
|
rs2146119382
|
|
NM_015474.4(SAMHD1):c.853-1G>C
|
|
|
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
|
|
|
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter)
|
rs752962934
|
|
NM_015474.4(SAMHD1):c.861T>C (p.Tyr287=)
|
rs752962934
|
|
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
|
|
|
NM_015474.4(SAMHD1):c.867G>T (p.Gly289=)
|
rs1601130409
|
|
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
|
|
|
NM_015474.4(SAMHD1):c.879C>T (p.Asn293=)
|
|
|
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp)
|
rs1451769476
|
|
NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly)
|
rs2146117130
|
|
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
|
|
|
NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)
|
|
|
NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val)
|
rs774197667
|
|
NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)
|
|
|
NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)
|
|
|
NM_015474.4(SAMHD1):c.903A>G (p.Val301=)
|
|
|
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
|
|
|
NM_015474.4(SAMHD1):c.924T>C (p.Ile308=)
|
rs1422794120
|
|
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=)
|
rs2063480136
|
|
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter)
|
rs2063480012
|
|
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
|
|
|
NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)
|
|
|
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
|
|
|
NM_015474.4(SAMHD1):c.953+12A>G
|
|
|
NM_015474.4(SAMHD1):c.953+19T>G
|
|
|
NM_015474.4(SAMHD1):c.953+1G>A
|
rs2146117027
|
|
NM_015474.4(SAMHD1):c.953+7A>C
|
rs1472597876
|
|
NM_015474.4(SAMHD1):c.953+7A>G
|
rs1472597876
|
|
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
|
|
|
NM_015474.4(SAMHD1):c.954-17T>G
|
|
|
NM_015474.4(SAMHD1):c.954-24CT[2]
|
rs780918592
|
|
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
|
|
|
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
|
|
|
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
|
|
|
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys)
|
rs770005027
|
|
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)
|
|
|
NM_015474.4(SAMHD1):c.999C>A (p.Arg333=)
|
rs2146116905
|
|
NM_015474.4(SAMHD1):c.99C>A (p.Ser33=)
|
rs1014839218
|
|
NM_015474.4(SAMHD1):c.99C>T (p.Ser33=)
|
rs1014839218
|
|
NM_022168.4(IFIH1):c.1001G>T (p.Gly334Val)
|
rs2105208967
|
|
NM_022168.4(IFIH1):c.1001del (p.Gly334fs)
|
|
|
NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly)
|
rs587777447
|
|
NM_022168.4(IFIH1):c.1013T>C (p.Val338Ala)
|
|
|
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr)
|
rs1314541924
|
|
NM_022168.4(IFIH1):c.1024A>G (p.Ile342Val)
|
|
|
NM_022168.4(IFIH1):c.1032G>A (p.Lys344=)
|
rs1057522887
|
|
NM_022168.4(IFIH1):c.103C>G (p.Leu35Val)
|
|
|
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met)
|
rs72650664
|
|
NM_022168.4(IFIH1):c.1056A>G (p.Lys352=)
|
|
|
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr)
|
rs762847175
|
|
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)
|
rs887114201
|
|
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter)
|
rs887114201
|
|
NM_022168.4(IFIH1):c.1065G>A (p.Glu355=)
|
|
|
NM_022168.4(IFIH1):c.1069G>A (p.Gly357Arg)
|
|
|
NM_022168.4(IFIH1):c.1070G>A (p.Gly357Glu)
|
|
|
NM_022168.4(IFIH1):c.1075G>C (p.Val359Leu)
|
|
|
NM_022168.4(IFIH1):c.1075G>T (p.Val359Phe)
|
|
|
NM_022168.4(IFIH1):c.1081G>A (p.Val361Ile)
|
|
|
NM_022168.4(IFIH1):c.1084C>G (p.Leu362Val)
|
|
|
NM_022168.4(IFIH1):c.1085T>C (p.Leu362Pro)
|
|
|
NM_022168.4(IFIH1):c.1091A>G (p.Asn364Ser)
|
rs1410059196
|
|
NM_022168.4(IFIH1):c.1095+15C>T
|
|
|
NM_022168.4(IFIH1):c.1095+1G>A
|
rs140125523
|
|
NM_022168.4(IFIH1):c.1095+1G>T
|
rs140125523
|
|
NM_022168.4(IFIH1):c.1095+4T>C
|
|
|
NM_022168.4(IFIH1):c.1096-10T>C
|
|
|
NM_022168.4(IFIH1):c.1096-13A>C
|
rs368712508
|
|
NM_022168.4(IFIH1):c.1096-14C>A
|
|
|
NM_022168.4(IFIH1):c.1096-17C>G
|
|
|
NM_022168.4(IFIH1):c.1096-19A>T
|
|
|
NM_022168.4(IFIH1):c.1096-20A>G
|
rs1479997723
|
|
NM_022168.4(IFIH1):c.1096-4del
|
rs1453617092
|
|
NM_022168.4(IFIH1):c.1096-8T>G
|
|
|
NM_022168.4(IFIH1):c.1099C>G (p.Leu367Val)
|
|
|
NM_022168.4(IFIH1):c.1099C>T (p.Leu367=)
|
rs898579910
|
|
NM_022168.4(IFIH1):c.1114C>G (p.Leu372Val)
|
rs587777576
|
|
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe)
|
rs587777576
|
|
NM_022168.4(IFIH1):c.1116C>G (p.Leu372=)
|
|
|
NM_022168.4(IFIH1):c.1118T>C (p.Phe373Ser)
|
rs2105203313
|
|
NM_022168.4(IFIH1):c.1121G>T (p.Arg374Leu)
|
rs145520044
|
|
NM_022168.4(IFIH1):c.1131C>T (p.Phe377=)
|
rs1432684351
|
|
NM_022168.4(IFIH1):c.1133A>G (p.Gln378Arg)
|
rs1682830281
|
|
NM_022168.4(IFIH1):c.1134A>G (p.Gln378=)
|
rs750443621
|
|
NM_022168.4(IFIH1):c.1149A>G (p.Lys383=)
|
|
|
NM_022168.4(IFIH1):c.1150T>C (p.Trp384Arg)
|
|
|
NM_022168.4(IFIH1):c.1151G>A (p.Trp384Ter)
|
rs752544919
|
|
NM_022168.4(IFIH1):c.1151G>C (p.Trp384Ser)
|
rs752544919
|
|
NM_022168.4(IFIH1):c.1151G>T (p.Trp384Leu)
|
|
|
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His)
|
rs1682829536
|
|
NM_022168.4(IFIH1):c.1156C>T (p.Arg386Cys)
|
|
|
NM_022168.4(IFIH1):c.1157G>T (p.Arg386Leu)
|
rs138611889
|
|
NM_022168.4(IFIH1):c.1159G>A (p.Val387Ile)
|
rs374766201
|
|
NM_022168.4(IFIH1):c.1159G>T (p.Val387Phe)
|
|
|
NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg)
|
rs1576227162
|
|
NM_022168.4(IFIH1):c.1169T>G (p.Leu390Ter)
|
rs2105203236
|
|
NM_022168.4(IFIH1):c.1173T>C (p.Ser391=)
|
|
|
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp)
|
rs1304955037
|
|
NM_022168.4(IFIH1):c.1178A>C (p.Asp393Ala)
|
rs587777449
|
|
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)
|
rs587777449
|
|
NM_022168.4(IFIH1):c.1181C>A (p.Thr394Asn)
|
|
|
NM_022168.4(IFIH1):c.1191A>G (p.Lys397=)
|
rs1682828092
|
|
NM_022168.4(IFIH1):c.1194A>G (p.Ile398Met)
|
|
|
NM_022168.4(IFIH1):c.1196C>G (p.Ser399Ter)
|
rs772585139
|
|
NM_022168.4(IFIH1):c.11G>C (p.Gly4Ala)
|
|
|
NM_022168.4(IFIH1):c.1200T>A (p.Phe400Leu)
|
|
|
NM_022168.4(IFIH1):c.1203A>G (p.Pro401=)
|
rs976325423
|
|
NM_022168.4(IFIH1):c.1204G>T (p.Glu402Ter)
|
|
|
NM_022168.4(IFIH1):c.1207G>A (p.Val403Ile)
|
|
|
NM_022168.4(IFIH1):c.1208T>C (p.Val403Ala)
|
|
|
NM_022168.4(IFIH1):c.1211T>C (p.Val404Ala)
|
rs111797285
|
|
NM_022168.4(IFIH1):c.1220G>A (p.Cys407Tyr)
|
|
|
NM_022168.4(IFIH1):c.1229T>C (p.Ile410Thr)
|
rs746025085
|
|
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr)
|
rs1682827216
|
|
NM_022168.4(IFIH1):c.1236T>C (p.Ser412=)
|
|
|
NM_022168.4(IFIH1):c.1238C>T (p.Thr413Ile)
|
|
|
NM_022168.4(IFIH1):c.1239A>G (p.Thr413=)
|
|
|
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
|
|
|
NM_022168.4(IFIH1):c.1250T>A (p.Leu417His)
|
|
|
NM_022168.4(IFIH1):c.1261C>T (p.Leu421Phe)
|
|
|
NM_022168.4(IFIH1):c.1270T>C (p.Leu424=)
|
|
|
NM_022168.4(IFIH1):c.1270T>G (p.Leu424Val)
|
rs762510649
|
|
NM_022168.4(IFIH1):c.1271del (p.Leu424fs)
|
rs1180019447
|
|
NM_022168.4(IFIH1):c.1288G>T (p.Ala430Ser)
|
rs2105203031
|
|
NM_022168.4(IFIH1):c.1293T>C (p.Gly431=)
|
|
|
NM_022168.4(IFIH1):c.1299A>G (p.Gln433=)
|
|
|
NM_022168.4(IFIH1):c.1302G>A (p.Leu434=)
|
rs1576227064
|
|
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr)
|
rs1682826089
|
|
NM_022168.4(IFIH1):c.1306+11G>A
|
|
|
NM_022168.4(IFIH1):c.1306+16T>C
|
rs2105202978
|
|
NM_022168.4(IFIH1):c.1306+17del
|
|
|
NM_022168.4(IFIH1):c.1306+18T>C
|
|
|
NM_022168.4(IFIH1):c.1306+6T>C
|
rs2105202990
|
|
NM_022168.4(IFIH1):c.1307-16del
|
rs1032927565
|
|
NM_022168.4(IFIH1):c.1307-17_1307-16del
|
rs1032927565
|
|
NM_022168.4(IFIH1):c.1307-19C>A
|
rs1553459305
|
|
NM_022168.4(IFIH1):c.1321A>G (p.Ile441Val)
|
rs2105202129
|
|
NM_022168.4(IFIH1):c.1321A>T (p.Ile441Phe)
|
|
|
NM_022168.4(IFIH1):c.1322T>C (p.Ile441Thr)
|
|
|
NM_022168.4(IFIH1):c.1323C>T (p.Ile441=)
|
|
|
NM_022168.4(IFIH1):c.1324A>G (p.Ile442Val)
|
|
|
NM_022168.4(IFIH1):c.1331A>G (p.Glu444Gly)
|
rs1576226728
|
|
NM_022168.4(IFIH1):c.1338T>C (p.His446=)
|
|
|
NM_022168.4(IFIH1):c.1342_1343del (p.Thr448fs)
|
|
|
NM_022168.4(IFIH1):c.1343C>T (p.Thr448Ile)
|
rs1576226711
|
|
NM_022168.4(IFIH1):c.1345A>C (p.Asn449His)
|
|
|
NM_022168.4(IFIH1):c.1347C>G (p.Asn449Lys)
|
rs753383954
|
|
NM_022168.4(IFIH1):c.1353A>C (p.Glu451Asp)
|
rs764763183
|
|
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr)
|
rs587777575
|
|
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu)
|
rs147642994
|
|
NM_022168.4(IFIH1):c.1358del (p.Val453fs)
|
|
|
NM_022168.4(IFIH1):c.1368C>G (p.Asn456Lys)
|
rs1682808224
|
|
NM_022168.4(IFIH1):c.1368C>T (p.Asn456=)
|
rs1682808224
|
|
NM_022168.4(IFIH1):c.1378_1379inv (p.His460Cys)
|
|
|
NM_022168.4(IFIH1):c.1380T>A (p.His460Gln)
|
|
|
NM_022168.4(IFIH1):c.1384T>G (p.Leu462Val)
|
rs2105201962
|
|
NM_022168.4(IFIH1):c.1387A>T (p.Met463Leu)
|
rs1247355630
|
|
NM_022168.4(IFIH1):c.1388T>G (p.Met463Arg)
|
|
|
NM_022168.4(IFIH1):c.138T>G (p.Ile46Met)
|
|
|
NM_022168.4(IFIH1):c.1395G>A (p.Lys465=)
|
|
|
NM_022168.4(IFIH1):c.1405A>G (p.Asn469Asp)
|
|
|
NM_022168.4(IFIH1):c.1406A>G (p.Asn469Ser)
|
|
|
NM_022168.4(IFIH1):c.1407_1417del (p.Asn469fs)
|
|
|
NM_022168.4(IFIH1):c.1419del (p.Glu474fs)
|
rs2105201912
|
|
NM_022168.4(IFIH1):c.1431_1439del (p.Val478_Pro480del)
|
|
|
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met)
|
rs1018712289
|
|
NM_022168.4(IFIH1):c.1437dup (p.Pro480fs)
|
|
|
NM_022168.4(IFIH1):c.1439C>A (p.Pro480His)
|
rs753401995
|
|
NM_022168.4(IFIH1):c.1446T>C (p.Pro482=)
|
rs1411002338
|
|
NM_022168.4(IFIH1):c.1446T>G (p.Pro482=)
|
rs1411002338
|
|
NM_022168.4(IFIH1):c.1447_1448delinsGG (p.Gln483Gly)
|
rs2105201846
|
|
NM_022168.4(IFIH1):c.1447_1450delinsGGGAATCCCCT (p.Gln483fs)
|
|
|
NM_022168.4(IFIH1):c.1449G>C (p.Gln483His)
|
|
|
NM_022168.4(IFIH1):c.144_148del (p.Arg48fs)
|
|
|
NM_022168.4(IFIH1):c.1457G>A (p.Gly486Glu)
|
|
|
NM_022168.4(IFIH1):c.1461A>G (p.Leu487=)
|
rs1176422661
|
|
NM_022168.4(IFIH1):c.1463C>G (p.Thr488Arg)
|
|
|
NM_022168.4(IFIH1):c.1464A>G (p.Thr488=)
|
|
|
NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr)
|
rs1576226604
|
|
NM_022168.4(IFIH1):c.1471C>T (p.Pro491Ser)
|
|
|
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp)
|
rs1474848285
|
|
NM_022168.4(IFIH1):c.147A>T (p.Thr49=)
|
|
|
NM_022168.4(IFIH1):c.1480G>A (p.Gly494Arg)
|
rs1682805179
|
|
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg)
|
rs672601336
|
|
NM_022168.4(IFIH1):c.1483G>C (p.Gly495Arg)
|
|
|
NM_022168.4(IFIH1):c.1484G>C (p.Gly495Ala)
|
|
|
NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp)
|
|
|
NM_022168.4(IFIH1):c.148G>T (p.Val50Phe)
|
|
|
NM_022168.4(IFIH1):c.1491G>A (p.Thr497=)
|
rs12479043
|
|
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=)
|
rs12479043
|
|
NM_022168.4(IFIH1):c.1499C>G (p.Ala500Gly)
|
|
|
NM_022168.4(IFIH1):c.149T>G (p.Val50Gly)
|
|
|
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser)
|
rs1485039163
|
|
NM_022168.4(IFIH1):c.14A>G (p.Tyr5Cys)
|
|
|
NM_022168.4(IFIH1):c.14_15del (p.Tyr5fs)
|
|
|
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys)
|
rs772032662
|
|
NM_022168.4(IFIH1):c.1513C>T (p.His505Tyr)
|
|
|
NM_022168.4(IFIH1):c.1515C>G (p.His505Gln)
|
rs147738489
|
|
NM_022168.4(IFIH1):c.1515C>T (p.His505=)
|
|
|
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn)
|
rs1320095792
|
|
NM_022168.4(IFIH1):c.1518T>C (p.Ile506=)
|
rs1682803560
|
|
NM_022168.4(IFIH1):c.151G>T (p.Ala51Ser)
|
|
|
NM_022168.4(IFIH1):c.1524+10A>G
|
|
|
NM_022168.4(IFIH1):c.1524+18G>A
|
|
|
NM_022168.4(IFIH1):c.1524+1G>T
|
rs898118498
|
|
NM_022168.4(IFIH1):c.1524+20A>G
|
|
|
NM_022168.4(IFIH1):c.1524+2T>G
|
rs865898522
|
|
NM_022168.4(IFIH1):c.1524+5G>A
|
|
|
NM_022168.4(IFIH1):c.1524+5G>C
|
|
|
NM_022168.4(IFIH1):c.1525-11C>A
|
|
|
NM_022168.4(IFIH1):c.1525-11C>T
|
|
|
NM_022168.4(IFIH1):c.1525-9C>G
|
|
|
NM_022168.4(IFIH1):c.1525C>T (p.Leu509=)
|
rs2105200537
|
|
NM_022168.4(IFIH1):c.1526T>G (p.Leu509Arg)
|
rs770811079
|
|
NM_022168.4(IFIH1):c.1528T>C (p.Cys510Arg)
|
rs1576226013
|
|
NM_022168.4(IFIH1):c.1534A>C (p.Asn512His)
|
rs2105200526
|
|
NM_022168.4(IFIH1):c.1534A>G (p.Asn512Asp)
|
|
|
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser)
|
rs370753836
|
|
NM_022168.4(IFIH1):c.1540G>C (p.Asp514His)
|
|
|
NM_022168.4(IFIH1):c.1545A>G (p.Ala515=)
|
|
|
NM_022168.4(IFIH1):c.1550C>T (p.Thr517Ile)
|
rs2105200508
|
|
NM_022168.4(IFIH1):c.1551T>C (p.Thr517=)
|
rs1682779091
|
|
NM_022168.4(IFIH1):c.1555A>C (p.Lys519Gln)
|
|
|
NM_022168.4(IFIH1):c.1557_1558del (p.Lys519fs)
|
|
|
NM_022168.4(IFIH1):c.1562T>C (p.Val521Ala)
|
rs2105200485
|
|
NM_022168.4(IFIH1):c.1567G>C (p.Glu523Gln)
|
|
|
NM_022168.4(IFIH1):c.1569A>G (p.Glu523=)
|
rs780503744
|
|
NM_022168.4(IFIH1):c.1572C>A (p.Asn524Lys)
|
|
|
NM_022168.4(IFIH1):c.1573C>T (p.Leu525Phe)
|
|
|
NM_022168.4(IFIH1):c.1579C>A (p.Gln527Lys)
|
|
|
NM_022168.4(IFIH1):c.1583T>C (p.Leu528Pro)
|
|
|
NM_022168.4(IFIH1):c.1584G>T (p.Leu528=)
|
rs2105200440
|
|
NM_022168.4(IFIH1):c.1589del (p.Asn530fs)
|
rs779192156
|
|
NM_022168.4(IFIH1):c.1590C>G (p.Asn530Lys)
|
rs369245661
|
|
NM_022168.4(IFIH1):c.1590C>T (p.Asn530=)
|
|
|
NM_022168.4(IFIH1):c.1592A>G (p.Gln531Arg)
|
|
|
NM_022168.4(IFIH1):c.1599G>A (p.Gln533=)
|
|
|
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr)
|
rs764183171
|
|
NM_022168.4(IFIH1):c.1603C>T (p.Pro535Ser)
|
rs764183171
|
|
NM_022168.4(IFIH1):c.1616T>C (p.Phe539Ser)
|
|
|
NM_022168.4(IFIH1):c.1627G>T (p.Asp543Tyr)
|
|
|
NM_022168.4(IFIH1):c.1628A>G (p.Asp543Gly)
|
|
|
NM_022168.4(IFIH1):c.162del (p.Asn55fs)
|
|
|
NM_022168.4(IFIH1):c.1631del (p.Ala544fs)
|
|
|
NM_022168.4(IFIH1):c.1641+10T>A
|
|
|
NM_022168.4(IFIH1):c.1641+16T>A
|
|
|
NM_022168.4(IFIH1):c.1641+19A>T
|
|
|
NM_022168.4(IFIH1):c.1641+1G>A
|
|
|
NM_022168.4(IFIH1):c.1641+3A>G
|
|
|
NM_022168.4(IFIH1):c.1641+6G>A
|
rs1558866937
|
|
NM_022168.4(IFIH1):c.1641+7G>A
|
|
|
NM_022168.4(IFIH1):c.1641+7G>T
|
|
|
NM_022168.4(IFIH1):c.1642-12C>A
|
|
|
NM_022168.4(IFIH1):c.1642-14T>C
|
|
|
NM_022168.4(IFIH1):c.1642-16T>C
|
|
|
NM_022168.4(IFIH1):c.1642-1G>A
|
rs1682743875
|
|
NM_022168.4(IFIH1):c.1642-24_1642-19del
|
rs764480780
|
|
NM_022168.4(IFIH1):c.1642-3del
|
|
|
NM_022168.4(IFIH1):c.1644T>C (p.Asp548=)
|
rs146039980
|
|
NM_022168.4(IFIH1):c.1646del (p.Pro549fs)
|
|
|
NM_022168.4(IFIH1):c.1650T>A (p.Phe550Leu)
|
|
|
NM_022168.4(IFIH1):c.1652A>C (p.Lys551Thr)
|
|
|
NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs)
|
|
|
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys)
|
rs1193030860
|
|
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys)
|
rs111732322
|
|
NM_022168.4(IFIH1):c.1674G>A (p.Met558Ile)
|
|
|
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro)
|
rs752832328
|
|
NM_022168.4(IFIH1):c.1679G>A (p.Arg560Lys)
|
|
|
NM_022168.4(IFIH1):c.1687A>T (p.Thr563Ser)
|
rs2105198654
|
|
NM_022168.4(IFIH1):c.1689_1690del (p.Tyr564fs)
|
rs1464362256
|
|
NM_022168.4(IFIH1):c.1704del (p.Pro569fs)
|
rs1558866398
|
|
NM_022168.4(IFIH1):c.1709T>C (p.Met570Thr)
|
|
|
NM_022168.4(IFIH1):c.1724C>T (p.Thr575Ile)
|
|
|
NM_022168.4(IFIH1):c.1726C>T (p.Gln576Ter)
|
rs2105198568
|
|
NM_022168.4(IFIH1):c.1728A>G (p.Gln576=)
|
|
|
NM_022168.4(IFIH1):c.1731C>T (p.Pro577=)
|
|
|
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)
|
rs774888783
|
|
NM_022168.4(IFIH1):c.1743G>A (p.Trp581Ter)
|
|
|
NM_022168.4(IFIH1):c.1744G>A (p.Ala582Thr)
|
|
|
NM_022168.4(IFIH1):c.1747A>G (p.Ile583Val)
|
rs753599401
|
|
NM_022168.4(IFIH1):c.1751A>T (p.Gln584Leu)
|
|
|
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)
|
|
|
NM_022168.4(IFIH1):c.1762A>C (p.Lys588Gln)
|
|
|
NM_022168.4(IFIH1):c.1764del (p.Ala589fs)
|
rs553669430
|
|
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs)
|
rs553669430
|
|
NM_022168.4(IFIH1):c.1765+12T>G
|
|
|
NM_022168.4(IFIH1):c.1765+14G>C
|
|
|
NM_022168.4(IFIH1):c.1765+17C>T
|
|
|
NM_022168.4(IFIH1):c.1765+1del
|
rs1227440828
|
|
NM_022168.4(IFIH1):c.1765+2T>C
|
|
|
NM_022168.4(IFIH1):c.1765+5T>G
|
rs1682738622
|
|
NM_022168.4(IFIH1):c.1765+7T>G
|
|
|
NM_022168.4(IFIH1):c.1765+9G>C
|
|
|
NM_022168.4(IFIH1):c.1765G>T (p.Ala589Ser)
|
rs150760072
|
|
NM_022168.4(IFIH1):c.1766-11dup
|
rs548261817
|
|
NM_022168.4(IFIH1):c.1766-13T>C
|
|
|
NM_022168.4(IFIH1):c.1766-16A>G
|
|
|
NM_022168.4(IFIH1):c.1766-20C>T
|
rs1682725810
|
|
NM_022168.4(IFIH1):c.1766-4_1766-3insATAAT
|
|
|
NM_022168.4(IFIH1):c.1766-6T>A
|
|
|
NM_022168.4(IFIH1):c.1766-6del
|
rs548261817
|
|
NM_022168.4(IFIH1):c.1766-9T>C
|
rs2105197921
|
|
NM_022168.4(IFIH1):c.1766-9_1766-8insCAC
|
|
|
NM_022168.4(IFIH1):c.1766C>A (p.Ala589Asp)
|
rs145792185
|
|
NM_022168.4(IFIH1):c.1766C>T (p.Ala589Val)
|
|
|
NM_022168.4(IFIH1):c.1769C>G (p.Ala590Gly)
|
rs768993250
|
|
NM_022168.4(IFIH1):c.1769C>T (p.Ala590Val)
|
|
|
NM_022168.4(IFIH1):c.1773A>G (p.Lys591=)
|
rs747086201
|
|
NM_022168.4(IFIH1):c.1774G>A (p.Glu592Lys)
|
|
|
NM_022168.4(IFIH1):c.177T>G (p.Val59=)
|
rs115500208
|
|
NM_022168.4(IFIH1):c.1783C>A (p.Arg595Ser)
|
|
|
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys)
|
rs191839015
|
|
NM_022168.4(IFIH1):c.1785C>T (p.Arg595=)
|
|
|
NM_022168.4(IFIH1):c.1787A>G (p.Lys596Arg)
|
|
|
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys)
|
rs963903258
|
|
NM_022168.4(IFIH1):c.1789G>C (p.Glu597Gln)
|
|
|
NM_022168.4(IFIH1):c.1792C>T (p.Arg598Cys)
|
|
|
NM_022168.4(IFIH1):c.1795del (p.Val599fs)
|
|
|
NM_022168.4(IFIH1):c.1801G>A (p.Ala601Thr)
|
|
|
NM_022168.4(IFIH1):c.1808A>G (p.His603Arg)
|
|
|
NM_022168.4(IFIH1):c.1810T>C (p.Leu604=)
|
|
|
NM_022168.4(IFIH1):c.1818G>C (p.Lys606Asn)
|
rs2105197801
|
|
NM_022168.4(IFIH1):c.1819T>C (p.Tyr607His)
|
|
|
NM_022168.4(IFIH1):c.1822_1824del (p.Asn608del)
|
|
|
NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)
|
|
|
NM_022168.4(IFIH1):c.1829C>A (p.Ala610Asp)
|
|
|
NM_022168.4(IFIH1):c.1837A>G (p.Ile613Val)
|
rs1235926337
|
|
NM_022168.4(IFIH1):c.1844A>G (p.Asp615Gly)
|
|
|
NM_022168.4(IFIH1):c.1846A>C (p.Thr616Pro)
|
|
|
NM_022168.4(IFIH1):c.1847C>T (p.Thr616Ile)
|
|
|
NM_022168.4(IFIH1):c.1861G>T (p.Asp621Tyr)
|
|
|
NM_022168.4(IFIH1):c.1862A>T (p.Asp621Val)
|
|
|
NM_022168.4(IFIH1):c.1864G>A (p.Ala622Thr)
|
|
|
NM_022168.4(IFIH1):c.1865C>A (p.Ala622Glu)
|
|
|
NM_022168.4(IFIH1):c.1869T>C (p.Tyr623=)
|
|
|
NM_022168.4(IFIH1):c.186G>T (p.Leu62=)
|
rs755818922
|
|
NM_022168.4(IFIH1):c.1874A>T (p.His625Leu)
|
rs1682720062
|
|
NM_022168.4(IFIH1):c.1876C>G (p.Leu626Val)
|
|
|
NM_022168.4(IFIH1):c.1885T>C (p.Phe629Leu)
|
rs145818112
|
|
NM_022168.4(IFIH1):c.1885T>G (p.Phe629Val)
|
rs145818112
|
|
NM_022168.4(IFIH1):c.1887C>T (p.Phe629=)
|
rs1411337823
|
|
NM_022168.4(IFIH1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile)
|
rs1682719356
|
|
NM_022168.4(IFIH1):c.1917A>T (p.Ala639=)
|
|
|
NM_022168.4(IFIH1):c.1922_1923del (p.Ile641fs)
|
rs2105197614
|
|
NM_022168.4(IFIH1):c.1928A>T (p.Asp643Val)
|
|
|
NM_022168.4(IFIH1):c.192C>A (p.Ser64Arg)
|
rs752429833
|
|
NM_022168.4(IFIH1):c.1930G>A (p.Asp644Asn)
|
rs1553459020
|
|
NM_022168.4(IFIH1):c.1934G>C (p.Ser645Thr)
|
|
|
NM_022168.4(IFIH1):c.1936G>A (p.Asp646Asn)
|
|
|
NM_022168.4(IFIH1):c.1936G>C (p.Asp646His)
|
|
|
NM_022168.4(IFIH1):c.193A>C (p.Thr65Pro)
|
|
|
NM_022168.4(IFIH1):c.1940A>G (p.Glu647Gly)
|
|
|
NM_022168.4(IFIH1):c.1943del (p.Gly648fs)
|
rs751231371
|
|
NM_022168.4(IFIH1):c.1949A>G (p.Asp650Gly)
|
|
|
NM_022168.4(IFIH1):c.194C>G (p.Thr65Ser)
|
|
|
NM_022168.4(IFIH1):c.194C>T (p.Thr65Ile)
|
|
|
NM_022168.4(IFIH1):c.1952A>G (p.Asp651Gly)
|
|
|
NM_022168.4(IFIH1):c.195C>G (p.Thr65=)
|
|
|
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp)
|
rs1682717892
|
|
NM_022168.4(IFIH1):c.1968T>C (p.Gly656=)
|
rs2105197520
|
|
NM_022168.4(IFIH1):c.1976A>C (p.Asp659Ala)
|
rs2105197504
|
|
NM_022168.4(IFIH1):c.1976A>T (p.Asp659Val)
|
rs2105197504
|
|
NM_022168.4(IFIH1):c.1980G>A (p.Glu660=)
|
rs777359322
|
|
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn)
|
rs2105197482
|
|
NM_022168.4(IFIH1):c.1983T>G (p.Asp661Glu)
|
rs2105197477
|
|
NM_022168.4(IFIH1):c.1986T>C (p.Asp662=)
|
|
|
NM_022168.4(IFIH1):c.1990A>C (p.Lys664Gln)
|
|
|
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn)
|
rs2105197453
|
|
NM_022168.4(IFIH1):c.1996C>A (p.Pro666Thr)
|
rs376074455
|
|
NM_022168.4(IFIH1):c.1996C>G (p.Pro666Ala)
|
|
|
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)
|
rs376074455
|
|
NM_022168.4(IFIH1):c.199G>C (p.Glu67Gln)
|
rs2105238398
|
|
NM_022168.4(IFIH1):c.19A>G (p.Thr7Ala)
|
|
|
NM_022168.4(IFIH1):c.19A>T (p.Thr7Ser)
|
rs2105238769
|
|
NM_022168.4(IFIH1):c.2002A>T (p.Lys668Ter)
|
|
|
NM_022168.4(IFIH1):c.2006T>G (p.Leu669Arg)
|
|
|
NM_022168.4(IFIH1):c.2008G>A (p.Asp670Asn)
|
rs370203250
|
|
NM_022168.4(IFIH1):c.2012A>G (p.Glu671Gly)
|
rs1682715644
|
|
NM_022168.4(IFIH1):c.2019_2020del (p.Asp673fs)
|
rs2105197403
|
|
NM_022168.4(IFIH1):c.201G>T (p.Glu67Asp)
|
rs2105238393
|
|
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs)
|
rs569337014
|
|
NM_022168.4(IFIH1):c.2021G>A (p.Arg674Lys)
|
|
|
NM_022168.4(IFIH1):c.2021G>C (p.Arg674Thr)
|
rs758006242
|
|
NM_022168.4(IFIH1):c.2022A>G (p.Arg674=)
|
|
|
NM_022168.4(IFIH1):c.2025T>C (p.Phe675=)
|
|
|
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val)
|
rs1682712829
|
|
NM_022168.4(IFIH1):c.2030T>C (p.Met677Thr)
|
rs1268091953
|
|
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)
|
rs774076578
|
|
NM_022168.4(IFIH1):c.2036dup (p.Leu679fs)
|
|
|
NM_022168.4(IFIH1):c.2037_2042dup (p.Phe680_Phe681insLeuPhe)
|
|
|
NM_022168.4(IFIH1):c.2044+10A>T
|
|
|
NM_022168.4(IFIH1):c.2044+12A>G
|
|
|
NM_022168.4(IFIH1):c.2044+15A>G
|
|
|
NM_022168.4(IFIH1):c.2044+18A>G
|
rs960261296
|
|
NM_022168.4(IFIH1):c.2044+20A>C
|
|
|
NM_022168.4(IFIH1):c.2044+7T>G
|
|
|
NM_022168.4(IFIH1):c.2045-15A>T
|
|
|
NM_022168.4(IFIH1):c.2045-1G>T
|
rs748813106
|
|
NM_022168.4(IFIH1):c.2045-7C>A
|
|
|
NM_022168.4(IFIH1):c.2046A>C (p.Glu682Asp)
|
|
|
NM_022168.4(IFIH1):c.2055A>G (p.Lys685=)
|
|
|
NM_022168.4(IFIH1):c.2056A>G (p.Met686Val)
|
|
|
NM_022168.4(IFIH1):c.2061G>T (p.Leu687Phe)
|
|
|
NM_022168.4(IFIH1):c.2065del (p.Arg689fs)
|
|
|
NM_022168.4(IFIH1):c.2066G>A (p.Arg689Lys)
|
|
|
NM_022168.4(IFIH1):c.2067G>A (p.Arg689=)
|
rs376420466
|
|
NM_022168.4(IFIH1):c.2067G>C (p.Arg689Ser)
|
rs376420466
|
|
NM_022168.4(IFIH1):c.2067G>T (p.Arg689Ser)
|
rs376420466
|
|
NM_022168.4(IFIH1):c.2068del (p.Leu690fs)
|
|
|
NM_022168.4(IFIH1):c.206G>C (p.Gly69Ala)
|
rs1403164634
|
|
NM_022168.4(IFIH1):c.2070G>C (p.Leu690=)
|
|
|
NM_022168.4(IFIH1):c.2072C>A (p.Ala691Asp)
|
|
|
NM_022168.4(IFIH1):c.2072C>T (p.Ala691Val)
|
|
|
NM_022168.4(IFIH1):c.2092_2304+447del
|
|
|
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer)
|
rs1682679223
|
|
NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln)
|
|
|
NM_022168.4(IFIH1):c.2111dup (p.Leu704fs)
|
|
|
NM_022168.4(IFIH1):c.2113A>G (p.Arg705Gly)
|
|
|
NM_022168.4(IFIH1):c.2120C>A (p.Thr707Asn)
|
rs2105196747
|
|
NM_022168.4(IFIH1):c.2127G>A (p.Met709Ile)
|
|
|
NM_022168.4(IFIH1):c.2130G>A (p.Glu710=)
|
|
|
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
|
|
|
NM_022168.4(IFIH1):c.2142G>A (p.Arg714=)
|
rs2105196694
|
|
NM_022168.4(IFIH1):c.2145T>A (p.Thr715=)
|
|
|
NM_022168.4(IFIH1):c.2150A>G (p.Glu717Gly)
|
|
|
NM_022168.4(IFIH1):c.2151A>G (p.Glu717=)
|
rs1246037000
|
|
NM_022168.4(IFIH1):c.2152T>C (p.Ser718Pro)
|
rs2105196679
|
|
NM_022168.4(IFIH1):c.2156C>T (p.Ala719Val)
|
rs1576224269
|
|
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly)
|
rs761864966
|
|
NM_022168.4(IFIH1):c.2158C>T (p.Arg720Ter)
|
|
|
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)
|
rs587777445
|
|
NM_022168.4(IFIH1):c.2159G>T (p.Arg720Leu)
|
|
|
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg)
|
rs2105196666
|
|
NM_022168.4(IFIH1):c.216C>A (p.His72Gln)
|
rs774025268
|
|
NM_022168.4(IFIH1):c.216C>G (p.His72Gln)
|
rs774025268
|
|
NM_022168.4(IFIH1):c.2181A>G (p.Thr727=)
|
|
|
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn)
|
rs375745122
|
|
NM_022168.4(IFIH1):c.2189G>C (p.Ser730Thr)
|
|
|
NM_022168.4(IFIH1):c.2191G>A (p.Ala731Thr)
|
|
|
NM_022168.4(IFIH1):c.2196T>A (p.Tyr732Ter)
|
|
|
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
|
|
|
NM_022168.4(IFIH1):c.2203T>G (p.Ser735Ala)
|
rs1268036060
|
|
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg)
|
rs1683544639
|
|
NM_022168.4(IFIH1):c.2212A>G (p.Ile738Val)
|
|
|
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs)
|
rs745948096
|
|
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp)
|
rs765738865
|
|
NM_022168.4(IFIH1):c.2223T>A (p.Asn741Lys)
|
|
|
NM_022168.4(IFIH1):c.2223T>C (p.Asn741=)
|
rs373758432
|
|
NM_022168.4(IFIH1):c.2224G>A (p.Glu742Lys)
|
rs1682675774
|
|
NM_022168.4(IFIH1):c.2231T>G (p.Phe744Cys)
|
|
|
NM_022168.4(IFIH1):c.2235T>C (p.Ala745=)
|
|
|
NM_022168.4(IFIH1):c.223T>A (p.Trp75Arg)
|
rs750844573
|
|
NM_022168.4(IFIH1):c.224G>C (p.Trp75Ser)
|
|
|
NM_022168.4(IFIH1):c.2257C>T (p.His753Tyr)
|
|
|
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln)
|
rs1682675340
|
|
NM_022168.4(IFIH1):c.2261T>A (p.Leu754Gln)
|
|
|
NM_022168.4(IFIH1):c.2268A>G (p.Gly756=)
|
rs2105196515
|
|
NM_022168.4(IFIH1):c.226A>T (p.Thr76Ser)
|
rs957068367
|
|
NM_022168.4(IFIH1):c.2274A>C (p.Gly758=)
|
rs1682675165
|
|
NM_022168.4(IFIH1):c.2277C>A (p.His759Gln)
|
|
|
NM_022168.4(IFIH1):c.2277C>T (p.His759=)
|
|
|
NM_022168.4(IFIH1):c.227C>T (p.Thr76Ile)
|
|
|
NM_022168.4(IFIH1):c.227_233del (p.Thr76fs)
|
|
|
NM_022168.4(IFIH1):c.2280del (p.Ser760fs)
|
|
|
NM_022168.4(IFIH1):c.2286G>C (p.Glu762Asp)
|
|
|
NM_022168.4(IFIH1):c.2287T>C (p.Phe763Leu)
|
|
|
NM_022168.4(IFIH1):c.2299A>G (p.Thr767Ala)
|
rs766399254
|
|
NM_022168.4(IFIH1):c.229C>A (p.Arg77=)
|
rs147278787
|
|
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
NM_022168.4(IFIH1):c.2300C>T (p.Thr767Ile)
|
rs2105196465
|
|
NM_022168.4(IFIH1):c.2304+11C>A
|
|
|
NM_022168.4(IFIH1):c.2304+12C>A
|
rs1187996414
|
|
NM_022168.4(IFIH1):c.2304+1G>T
|
rs762865950
|
|
NM_022168.4(IFIH1):c.2304+20C>A
|
|
|
NM_022168.4(IFIH1):c.2304G>A (p.Gln768=)
|
|
|
NM_022168.4(IFIH1):c.2305-18A>T
|
rs2105193857
|
|
NM_022168.4(IFIH1):c.2305-3C>T
|
rs2105193842
|
|
NM_022168.4(IFIH1):c.2305-5T>C
|
|
|
NM_022168.4(IFIH1):c.230G>C (p.Arg77Pro)
|
rs367851471
|
|
NM_022168.4(IFIH1):c.230G>T (p.Arg77Leu)
|
rs367851471
|
|
NM_022168.4(IFIH1):c.2315AAG[1] (p.Glu773del)
|
|
|
NM_022168.4(IFIH1):c.2317G>C (p.Glu773Gln)
|
rs201472224
|
|
NM_022168.4(IFIH1):c.2321_2323delinsGTT (p.Val774_Ile775delinsGlyPhe)
|
rs2105193797
|
|
NM_022168.4(IFIH1):c.2323A>G (p.Ile775Val)
|
rs1691096839
|
|
NM_022168.4(IFIH1):c.2324_2326del (p.Ile775del)
|
rs2105193787
|
|
NM_022168.4(IFIH1):c.2334T>C (p.Phe778=)
|
rs774912983
|
|
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)
|
rs587777448
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.2339C>G (p.Thr780Ser)
|
|
|
NM_022168.4(IFIH1):c.2342G>A (p.Gly781Glu)
|
rs1576222845
|
|
NM_022168.4(IFIH1):c.2345A>G (p.Lys782Arg)
|
rs2105193747
|
|
NM_022168.4(IFIH1):c.2351A>G (p.Asn784Ser)
|
|
|
NM_022168.4(IFIH1):c.2372T>C (p.Val791Ala)
|
rs2105193712
|
|
NM_022168.4(IFIH1):c.238G>A (p.Val80Met)
|
|
|
NM_022168.4(IFIH1):c.2400A>C (p.Glu800Asp)
|
|
|
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr)
|
rs1576222807
|
|
NM_022168.4(IFIH1):c.2404A>G (p.Asn802Asp)
|
rs1576222803
|
|
NM_022168.4(IFIH1):c.2407A>C (p.Ile803Leu)
|
|
|
NM_022168.4(IFIH1):c.2407A>G (p.Ile803Val)
|
|
|
NM_022168.4(IFIH1):c.2407A>T (p.Ile803Phe)
|
rs774958328
|
|
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr)
|
rs778884536
|
|
NM_022168.4(IFIH1):c.240G>A (p.Val80=)
|
|
|
NM_022168.4(IFIH1):c.240G>C (p.Val80=)
|
|
|
NM_022168.4(IFIH1):c.2412T>C (p.Val804=)
|
|
|
NM_022168.4(IFIH1):c.2413A>G (p.Ile805Val)
|
|
|
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe)
|
rs1691095136
|
|
NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met)
|
rs1010120295
|
|
NM_022168.4(IFIH1):c.241G>A (p.Glu81Lys)
|
rs2105238289
|
|
NM_022168.4(IFIH1):c.2420A>G (p.Tyr807Cys)
|
rs752226580
|
|
NM_022168.4(IFIH1):c.2421T>C (p.Tyr807=)
|
rs184259770
|
|
NM_022168.4(IFIH1):c.2426T>C (p.Leu809Pro)
|
|
|
NM_022168.4(IFIH1):c.2427C>G (p.Leu809=)
|
rs74162086
|
|
NM_022168.4(IFIH1):c.2427C>T (p.Leu809=)
|
rs74162086
|
|
NM_022168.4(IFIH1):c.2429T>A (p.Val810Asp)
|
|
|
NM_022168.4(IFIH1):c.242A>C (p.Glu81Ala)
|
rs1168844368
|
|
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp)
|
rs1559810905
|
|
NM_022168.4(IFIH1):c.243G>A (p.Glu81=)
|
rs1466990969
|
|
NM_022168.4(IFIH1):c.2443G>A (p.Ala815Thr)
|
|
|
NM_022168.4(IFIH1):c.2445C>T (p.Ala815=)
|
|
|
NM_022168.4(IFIH1):c.2449G>A (p.Val817Ile)
|
|
|
NM_022168.4(IFIH1):c.2454+14C>T
|
|
|
NM_022168.4(IFIH1):c.2454+17C>G
|
rs190588381
|
|
NM_022168.4(IFIH1):c.2454+1G>T
|
rs778780074
|
|
NM_022168.4(IFIH1):c.2454+20C>T
|
|
|
NM_022168.4(IFIH1):c.2454+4C>A
|
|
|
NM_022168.4(IFIH1):c.2454+4C>G
|
|
|
NM_022168.4(IFIH1):c.2454+6T>G
|
|
|
NM_022168.4(IFIH1):c.2454+7T>A
|
rs2105193557
|
|
NM_022168.4(IFIH1):c.2454G>A (p.Gln818=)
|
|
|
NM_022168.4(IFIH1):c.2455-19G>A
|
rs2105192062
|
|
NM_022168.4(IFIH1):c.2455-1G>A
|
|
|
NM_022168.4(IFIH1):c.2455-6T>A
|
rs2105192046
|
|
NM_022168.4(IFIH1):c.2455-6T>C
|
|
|
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)
|
rs74162087
|
|
NM_022168.4(IFIH1):c.2459G>T (p.Arg820Leu)
|
rs74162087
|
|
NM_022168.4(IFIH1):c.2464C>A (p.Arg822=)
|
rs747926684
|
|
NM_022168.4(IFIH1):c.2471G>A (p.Arg824Lys)
|
rs1238832404
|
|
NM_022168.4(IFIH1):c.2478T>C (p.Asp826=)
|
rs2105191994
|
|
NM_022168.4(IFIH1):c.247C>T (p.Leu83Phe)
|
|
|
NM_022168.4(IFIH1):c.2481G>C (p.Glu827Asp)
|
|
|
NM_022168.4(IFIH1):c.2483G>T (p.Ser828Ile)
|
|
|
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
|
|
|
NM_022168.4(IFIH1):c.2486C>G (p.Thr829Ser)
|
rs765887304
|
|
NM_022168.4(IFIH1):c.2505C>T (p.His835=)
|
|
|
NM_022168.4(IFIH1):c.250C>A (p.Arg84=)
|
rs2105238264
|
|
NM_022168.4(IFIH1):c.250C>G (p.Arg84Gly)
|
|
|
NM_022168.4(IFIH1):c.2515G>C (p.Gly839Arg)
|
|
|
NM_022168.4(IFIH1):c.2525A>T (p.Glu842Val)
|
|
|
NM_022168.4(IFIH1):c.2527_2528inv (p.His843Cys)
|
|
|
NM_022168.4(IFIH1):c.2530G>C (p.Glu844Gln)
|
|
|
NM_022168.4(IFIH1):c.2535A>C (p.Thr845=)
|
|
|
NM_022168.4(IFIH1):c.2542G>A (p.Asp848Asn)
|
|
|
NM_022168.4(IFIH1):c.2544T>G (p.Asp848Glu)
|
rs1576222015
|
|
NM_022168.4(IFIH1):c.2548C>A (p.Arg850=)
|
rs750804689
|
|
NM_022168.4(IFIH1):c.2549G>C (p.Arg850Pro)
|
rs370618144
|
|
NM_022168.4(IFIH1):c.2558T>C (p.Met853Thr)
|
rs1691055209
|
|
NM_022168.4(IFIH1):c.2560A>T (p.Met854Leu)
|
|
|
NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys)
|
rs138373022
|
|
NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr)
|
rs768238624
|
|
NM_022168.4(IFIH1):c.2569G>C (p.Ala857Pro)
|
|
|
NM_022168.4(IFIH1):c.2574A>G (p.Ile858Met)
|
|
|
NM_022168.4(IFIH1):c.2575C>G (p.His859Asp)
|
rs373382295
|
|
NM_022168.4(IFIH1):c.2576A>G (p.His859Arg)
|
|
|
NM_022168.4(IFIH1):c.257C>T (p.Thr86Ile)
|
rs2105238259
|
|
NM_022168.4(IFIH1):c.2581del (p.Val861fs)
|
|
|
NM_022168.4(IFIH1):c.2587A>G (p.Asn863Asp)
|
|
|
NM_022168.4(IFIH1):c.258C>A (p.Thr86=)
|
|
|
NM_022168.4(IFIH1):c.2591T>C (p.Met864Thr)
|
|
|
NM_022168.4(IFIH1):c.2596C>T (p.Pro866Ser)
|
|
|
NM_022168.4(IFIH1):c.259G>A (p.Gly87Ser)
|
|
|
NM_022168.4(IFIH1):c.2600A>G (p.Glu867Gly)
|
|
|
NM_022168.4(IFIH1):c.2601G>C (p.Glu867Asp)
|
rs764489663
|
|
NM_022168.4(IFIH1):c.2604G>C (p.Glu868Asp)
|
rs760907862
|
|
NM_022168.4(IFIH1):c.2609C>T (p.Ala870Val)
|
|
|
NM_022168.4(IFIH1):c.2614A>C (p.Lys872Gln)
|
|
|
NM_022168.4(IFIH1):c.2616+14C>T
|
|
|
NM_022168.4(IFIH1):c.2616+3A>T
|
|
|
NM_022168.4(IFIH1):c.2616+6G>A
|
rs761784724
|
|
NM_022168.4(IFIH1):c.2616+7T>C
|
|
|
NM_022168.4(IFIH1):c.2616G>C (p.Lys872Asn)
|
|
|
NM_022168.4(IFIH1):c.2617-16T>G
|
rs1690964864
|
|
NM_022168.4(IFIH1):c.2617-1G>T
|
|
|
NM_022168.4(IFIH1):c.2617-4C>T
|
rs763876323
|
|
NM_022168.4(IFIH1):c.2618T>G (p.Ile873Ser)
|
|
|
NM_022168.4(IFIH1):c.2619T>A (p.Ile873=)
|
|
|
NM_022168.4(IFIH1):c.2623G>A (p.Glu875Lys)
|
|
|
NM_022168.4(IFIH1):c.2632_2639del (p.Met878fs)
|
|
|
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter)
|
rs1559809132
|
|
NM_022168.4(IFIH1):c.2638A>C (p.Ser880Arg)
|
rs1391101090
|
|
NM_022168.4(IFIH1):c.2639G>T (p.Ser880Ile)
|
|
|
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val)
|
rs1169761887
|
|
NM_022168.4(IFIH1):c.2644A>C (p.Met882Leu)
|
rs2105187946
|
|
NM_022168.4(IFIH1):c.2652G>T (p.Lys884Asn)
|
|
|
NM_022168.4(IFIH1):c.2658G>A (p.Met886Ile)
|
rs2105187934
|
|
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter)
|
rs1252022173
|
|
NM_022168.4(IFIH1):c.2667G>A (p.Lys889=)
|
|
|
NM_022168.4(IFIH1):c.2679C>T (p.Ala893=)
|
|
|
NM_022168.4(IFIH1):c.2686del (p.Tyr896fs)
|
|
|
NM_022168.4(IFIH1):c.2687A>C (p.Tyr896Ser)
|
|
|
NM_022168.4(IFIH1):c.2689A>C (p.Lys897Gln)
|
|
|
NM_022168.4(IFIH1):c.2691G>A (p.Lys897=)
|
|
|
NM_022168.4(IFIH1):c.2697C>T (p.Asn899=)
|
rs763492910
|
|
NM_022168.4(IFIH1):c.2704C>T (p.Leu902=)
|
|
|
NM_022168.4(IFIH1):c.2707A>T (p.Ile903Leu)
|
|
|
NM_022168.4(IFIH1):c.2713T>C (p.Phe905Leu)
|
|
|
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe)
|
rs1690962431
|
|
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile)
|
rs1690962335
|
|
NM_022168.4(IFIH1):c.2728T>A (p.Cys910Ser)
|
|
|
NM_022168.4(IFIH1):c.2730C>A (p.Cys910Ter)
|
|
|
NM_022168.4(IFIH1):c.2730C>T (p.Cys910=)
|
|
|
NM_022168.4(IFIH1):c.2734G>C (p.Val912Leu)
|
rs763049591
|
|
NM_022168.4(IFIH1):c.2744G>A (p.Cys915Tyr)
|
|
|
NM_022168.4(IFIH1):c.2755G>T (p.Asp919Tyr)
|
|
|
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr)
|
rs748895438
|
|
NM_022168.4(IFIH1):c.275C>T (p.Ala92Val)
|
rs2105238199
|
|
NM_022168.4(IFIH1):c.2770G>A (p.Glu924Lys)
|
rs2105187737
|
|
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly)
|
rs1690960964
|
|
NM_022168.4(IFIH1):c.2777T>C (p.Met926Thr)
|
|
|
NM_022168.4(IFIH1):c.2778G>A (p.Met926Ile)
|
|
|
NM_022168.4(IFIH1):c.277C>G (p.Arg93Gly)
|
rs947699715
|
|
NM_022168.4(IFIH1):c.277C>T (p.Arg93Cys)
|
rs947699715
|
|
NM_022168.4(IFIH1):c.2780A>T (p.His927Leu)
|
rs747311719
|
|
NM_022168.4(IFIH1):c.2783_2784delinsG (p.His928fs)
|
|
|
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp)
|
rs374202040
|
|
NM_022168.4(IFIH1):c.2789A>G (p.Asn930Ser)
|
|
|
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile)
|
rs1576220013
|
|
NM_022168.4(IFIH1):c.2795C>A (p.Thr932Asn)
|
|
|
NM_022168.4(IFIH1):c.2796C>T (p.Thr932=)
|
rs1014172228
|
|
NM_022168.4(IFIH1):c.2798del (p.Pro933fs)
|
|
|
NM_022168.4(IFIH1):c.2800G>A (p.Glu934Lys)
|
|
|
NM_022168.4(IFIH1):c.2807+12A>C
|
|
|
NM_022168.4(IFIH1):c.2807+14G>A
|
rs1423682802
|
|
NM_022168.4(IFIH1):c.2808-12T>C
|
|
|
NM_022168.4(IFIH1):c.2808-18T>C
|
rs2105187140
|
|
NM_022168.4(IFIH1):c.2808-4A>T
|
|
|
NM_022168.4(IFIH1):c.2810A>G (p.Glu937Gly)
|
|
|
NM_022168.4(IFIH1):c.2812C>G (p.Leu938Val)
|
rs2105187108
|
|
NM_022168.4(IFIH1):c.2812del (p.Leu938fs)
|
rs2105187112
|
|
NM_022168.4(IFIH1):c.2816del (p.Tyr939fs)
|
|
|
NM_022168.4(IFIH1):c.2818A>T (p.Ile940Phe)
|
|
|
NM_022168.4(IFIH1):c.2819T>A (p.Ile940Asn)
|
rs1244249692
|
|
NM_022168.4(IFIH1):c.2820T>G (p.Ile940Met)
|
rs2105187091
|
|
NM_022168.4(IFIH1):c.2827G>T (p.Glu943Ter)
|
rs2105187079
|
|
NM_022168.4(IFIH1):c.282C>T (p.Tyr94=)
|
|
|
NM_022168.4(IFIH1):c.2832C>G (p.Asn944Lys)
|
|
|
NM_022168.4(IFIH1):c.2832del (p.Asn944fs)
|
|
|
NM_022168.4(IFIH1):c.2847G>C (p.Lys949Asn)
|
|
|
NM_022168.4(IFIH1):c.284T>C (p.Met95Thr)
|
rs769741397
|
|
NM_022168.4(IFIH1):c.2850G>A (p.Lys950=)
|
|
|
NM_022168.4(IFIH1):c.2850G>T (p.Lys950Asn)
|
rs2105187036
|
|
NM_022168.4(IFIH1):c.2856C>G (p.Ala952=)
|
|
|
NM_022168.4(IFIH1):c.2856C>T (p.Ala952=)
|
|
|
NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu)
|
|
|
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile)
|
rs748006043
|
|
NM_022168.4(IFIH1):c.2862T>C (p.Tyr954=)
|
|
|
NM_022168.4(IFIH1):c.2866A>G (p.Ile956Val)
|
rs1576219706
|
|
NM_022168.4(IFIH1):c.2867T>A (p.Ile956Lys)
|
|
|
NM_022168.4(IFIH1):c.2867T>C (p.Ile956Thr)
|
|
|
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)
|
rs1466752669
|
|
NM_022168.4(IFIH1):c.2880C>T (p.Ile960=)
|
|
|
NM_022168.4(IFIH1):c.2884T>C (p.Cys962Arg)
|
rs1559808756
|
|
NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)
|
|
|
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val)
|
rs2105186932
|
|
NM_022168.4(IFIH1):c.2898+15G>A
|
|
|
NM_022168.4(IFIH1):c.2898+19G>C
|
|
|
NM_022168.4(IFIH1):c.2898+20C>G
|
|
|
NM_022168.4(IFIH1):c.2898+3G>A
|
|
|
NM_022168.4(IFIH1):c.2898+4A>G
|
|
|
NM_022168.4(IFIH1):c.2898G>C (p.Gln966His)
|
|
|
NM_022168.4(IFIH1):c.2899-16C>G
|
rs1376985243
|
|
NM_022168.4(IFIH1):c.2899-18C>G
|
|
|
NM_022168.4(IFIH1):c.2899-5T>C
|
rs1690944892
|
|
NM_022168.4(IFIH1):c.2899-8T>C
|
|
|
NM_022168.4(IFIH1):c.2899G>A (p.Ala967Thr)
|
|
|
NM_022168.4(IFIH1):c.2899G>C (p.Ala967Pro)
|
|
|
NM_022168.4(IFIH1):c.289C>A (p.Pro97Thr)
|
|
|
NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter)
|
rs1690944637
|
|
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu)
|
rs2105186745
|
|
NM_022168.4(IFIH1):c.2922C>G (p.His974Gln)
|
|
|
NM_022168.4(IFIH1):c.2932G>C (p.Asp978His)
|
|
|
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
|
|
|
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)
|
rs1553696482
|
|
NM_022168.4(IFIH1):c.2942G>T (p.Cys981Phe)
|
|
|
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
|
|
|
NM_022168.4(IFIH1):c.2950A>G (p.Ile984Val)
|
|
|
NM_022168.4(IFIH1):c.2952A>G (p.Ile984Met)
|
|
|
NM_022168.4(IFIH1):c.2954G>C (p.Arg985Thr)
|
|
|
NM_022168.4(IFIH1):c.2960T>C (p.Phe987Ser)
|
|
|
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)
|
rs74162090
|
|
NM_022168.4(IFIH1):c.2964A>G (p.Val988=)
|
rs2105186655
|
|
NM_022168.4(IFIH1):c.2968G>T (p.Val990Phe)
|
rs766879801
|
|
NM_022168.4(IFIH1):c.296T>C (p.Leu99Pro)
|
rs751197215
|
|
NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu)
|
rs763358277
|
|
NM_022168.4(IFIH1):c.2978A>C (p.Asn993Thr)
|
rs2105186636
|
|
NM_022168.4(IFIH1):c.2979T>C (p.Asn993=)
|
|
|
NM_022168.4(IFIH1):c.2988A>G (p.Thr996=)
|
rs773579812
|
|
NM_022168.4(IFIH1):c.2990del (p.Lys997fs)
|
rs2105186622
|
|
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)
|
rs1163178795
|
|
NM_022168.4(IFIH1):c.3000C>T (p.Tyr1000=)
|
|
|
NM_022168.4(IFIH1):c.3001A>G (p.Lys1001Glu)
|
|
|
NM_022168.4(IFIH1):c.3003A>C (p.Lys1001Asn)
|
|
|
NM_022168.4(IFIH1):c.3005A>C (p.Lys1002Thr)
|
|
|
NM_022168.4(IFIH1):c.3006G>T (p.Lys1002Asn)
|
|
|
NM_022168.4(IFIH1):c.3018A>G (p.Leu1006=)
|
|
|
NM_022168.4(IFIH1):c.3025A>G (p.Thr1009Ala)
|
rs1690942148
|
|
NM_022168.4(IFIH1):c.3026C>G (p.Thr1009Arg)
|
|
|
NM_022168.4(IFIH1):c.3042C>G (p.Asp1014Glu)
|
|
|
NM_022168.4(IFIH1):c.3042C>T (p.Asp1014=)
|
|
|
NM_022168.4(IFIH1):c.3044A>G (p.Tyr1015Cys)
|
|
|
NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly)
|
|
|
NM_022168.4(IFIH1):c.3060A>G (p.Leu1020=)
|
|
|
NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr)
|
rs1559808617
|
|
NM_022168.4(IFIH1):c.3069T>C (p.Asp1023=)
|
|
|
NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)
|
|
|
NM_022168.4(IFIH1):c.312_313del (p.Pro105fs)
|
rs756183031
|
|
NM_022168.4(IFIH1):c.313_314delinsGA (p.Pro105Glu)
|
|
|
NM_022168.4(IFIH1):c.315A>G (p.Pro105=)
|
|
|
NM_022168.4(IFIH1):c.318G>A (p.Ser106=)
|
|
|
NM_022168.4(IFIH1):c.319T>G (p.Phe107Val)
|
rs1047156211
|
|
NM_022168.4(IFIH1):c.322G>A (p.Glu108Lys)
|
|
|
NM_022168.4(IFIH1):c.329C>G (p.Ala110Gly)
|
rs1576243266
|
|
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser)
|
rs1355798943
|
|
NM_022168.4(IFIH1):c.332A>G (p.His111Arg)
|
rs2105237997
|
|
NM_022168.4(IFIH1):c.337G>A (p.Glu113Lys)
|
rs1419235573
|
|
NM_022168.4(IFIH1):c.337G>T (p.Glu113Ter)
|
|
|
NM_022168.4(IFIH1):c.340T>A (p.Tyr114Asn)
|
|
|
NM_022168.4(IFIH1):c.343C>T (p.Leu115Phe)
|
|
|
NM_022168.4(IFIH1):c.349C>T (p.Leu117=)
|
|
|
NM_022168.4(IFIH1):c.364C>T (p.Gln122Ter)
|
|
|
NM_022168.4(IFIH1):c.366G>T (p.Gln122His)
|
|
|
NM_022168.4(IFIH1):c.367C>A (p.Pro123Thr)
|
|
|
NM_022168.4(IFIH1):c.367C>T (p.Pro123Ser)
|
rs1683538119
|
|
NM_022168.4(IFIH1):c.369C>T (p.Pro123=)
|
rs2105237912
|
|
NM_022168.4(IFIH1):c.36C>G (p.Arg12=)
|
rs1683553380
|
|
NM_022168.4(IFIH1):c.373C>A (p.Leu125Met)
|
rs139219083
|
|
NM_022168.4(IFIH1):c.373C>G (p.Leu125Val)
|
rs139219083
|
|
NM_022168.4(IFIH1):c.384G>A (p.Lys128=)
|
rs138344310
|
|
NM_022168.4(IFIH1):c.384G>C (p.Lys128Asn)
|
|
|
NM_022168.4(IFIH1):c.386T>C (p.Leu129Pro)
|
rs2105237875
|
|
NM_022168.4(IFIH1):c.389T>C (p.Leu130Pro)
|
rs1683537130
|
|
NM_022168.4(IFIH1):c.390A>C (p.Leu130=)
|
rs1442032597
|
|
NM_022168.4(IFIH1):c.390A>G (p.Leu130=)
|
|
|
NM_022168.4(IFIH1):c.391G>A (p.Val131Ile)
|
rs2105237866
|
|
NM_022168.4(IFIH1):c.406G>A (p.Asp136Asn)
|
rs1683536418
|
|
NM_022168.4(IFIH1):c.409A>C (p.Lys137Gln)
|
rs2105237814
|
|
NM_022168.4(IFIH1):c.412T>A (p.Cys138Ser)
|
rs759791512
|
|
NM_022168.4(IFIH1):c.413G>T (p.Cys138Phe)
|
|
|
NM_022168.4(IFIH1):c.416T>C (p.Met139Thr)
|
|
|
NM_022168.4(IFIH1):c.418G>T (p.Glu140Ter)
|
rs766508793
|
|
NM_022168.4(IFIH1):c.421G>A (p.Glu141Lys)
|
|
|
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro)
|
rs1231638178
|
|
NM_022168.4(IFIH1):c.438T>C (p.Ile146=)
|
rs775337458
|
|
NM_022168.4(IFIH1):c.438del (p.Ile146fs)
|
|
|
NM_022168.4(IFIH1):c.442G>A (p.Asp148Asn)
|
rs1683533087
|
|
NM_022168.4(IFIH1):c.443A>G (p.Asp148Gly)
|
|
|
NM_022168.4(IFIH1):c.448A>G (p.Asn150Asp)
|
rs2105237729
|
|
NM_022168.4(IFIH1):c.448_453+39del
|
|
|
NM_022168.4(IFIH1):c.450C>T (p.Asn150=)
|
rs745461322
|
|
NM_022168.4(IFIH1):c.452G>T (p.Arg151Leu)
|
|
|
NM_022168.4(IFIH1):c.453+11G>T
|
|
|
NM_022168.4(IFIH1):c.453+19G>C
|
rs1267044353
|
|
NM_022168.4(IFIH1):c.453+7G>A
|
rs1476583732
|
|
NM_022168.4(IFIH1):c.454-12_454-10del
|
|
|
NM_022168.4(IFIH1):c.454-16T>C
|
|
|
NM_022168.4(IFIH1):c.454-17A>G
|
|
|
NM_022168.4(IFIH1):c.454-1G>A
|
|
|
NM_022168.4(IFIH1):c.454-3C>G
|
rs2105230636
|
|
NM_022168.4(IFIH1):c.454-4A>G
|
rs1683376303
|
|
NM_022168.4(IFIH1):c.456del (p.Ile152fs)
|
rs1683376227
|
|
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)
|
rs781431529
|
|
NM_022168.4(IFIH1):c.45C>T (p.Ile15=)
|
rs2105238706
|
|
NM_022168.4(IFIH1):c.460G>C (p.Ala154Pro)
|
|
|
NM_022168.4(IFIH1):c.462del (p.Ala155fs)
|
|
|
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp)
|
rs372313271
|
|
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser)
|
rs1007619458
|
|
NM_022168.4(IFIH1):c.489T>A (p.Gly163=)
|
|
|
NM_022168.4(IFIH1):c.48G>A (p.Ser16=)
|
|
|
NM_022168.4(IFIH1):c.48G>C (p.Ser16=)
|
rs1418349209
|
|
NM_022168.4(IFIH1):c.48G>T (p.Ser16=)
|
|
|
NM_022168.4(IFIH1):c.492A>T (p.Val164=)
|
|
|
NM_022168.4(IFIH1):c.496G>C (p.Glu166Gln)
|
|
|
NM_022168.4(IFIH1):c.4T>A (p.Ser2Thr)
|
|
|
NM_022168.4(IFIH1):c.505A>G (p.Lys169Glu)
|
|
|
NM_022168.4(IFIH1):c.510G>C (p.Arg170Ser)
|
rs2105230566
|
|
NM_022168.4(IFIH1):c.511A>C (p.Ile171Leu)
|
|
|
NM_022168.4(IFIH1):c.516G>A (p.Val172=)
|
rs2105230556
|
|
NM_022168.4(IFIH1):c.523G>A (p.Glu175Lys)
|
|
|
NM_022168.4(IFIH1):c.524A>C (p.Glu175Ala)
|
|
|
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs)
|
rs2105238244
|
|
NM_022168.4(IFIH1):c.538G>A (p.Ala180Thr)
|
|
|
NM_022168.4(IFIH1):c.540A>G (p.Ala180=)
|
rs2105230522
|
|
NM_022168.4(IFIH1):c.542T>C (p.Phe181Ser)
|
|
|
NM_022168.4(IFIH1):c.54C>G (p.Phe18Leu)
|
|
|
NM_022168.4(IFIH1):c.554T>C (p.Leu185Pro)
|
|
|
NM_022168.4(IFIH1):c.557G>A (p.Arg186His)
|
rs189443152
|
|
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro)
|
rs189443152
|
|
NM_022168.4(IFIH1):c.574G>A (p.Glu192Lys)
|
|
|
NM_022168.4(IFIH1):c.577C>A (p.Leu193Ile)
|
|
|
NM_022168.4(IFIH1):c.578T>A (p.Leu193His)
|
rs1405437835
|
|
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu)
|
rs1553461143
|
|
NM_022168.4(IFIH1):c.582C>G (p.Val194=)
|
|
|
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg)
|
rs1558876231
|
|
NM_022168.4(IFIH1):c.592A>G (p.Thr198Ala)
|
rs1683373192
|
|
NM_022168.4(IFIH1):c.596G>T (p.Gly199Val)
|
|
|
NM_022168.4(IFIH1):c.599C>T (p.Ser200Phe)
|
rs2105230439
|
|
NM_022168.4(IFIH1):c.601G>A (p.Asp201Asn)
|
|
|
NM_022168.4(IFIH1):c.602A>C (p.Asp201Ala)
|
|
|
NM_022168.4(IFIH1):c.606C>T (p.Cys202=)
|
|
|
NM_022168.4(IFIH1):c.608C>T (p.Ser203Leu)
|
|
|
NM_022168.4(IFIH1):c.614G>A (p.Ser205Asn)
|
|
|
NM_022168.4(IFIH1):c.617A>G (p.Asn206Ser)
|
|
|
NM_022168.4(IFIH1):c.61A>G (p.Arg21Gly)
|
|
|
NM_022168.4(IFIH1):c.622+3A>G
|
|
|
NM_022168.4(IFIH1):c.622+8T>C
|
rs2105230409
|
|
NM_022168.4(IFIH1):c.623-19C>T
|
|
|
NM_022168.4(IFIH1):c.623-1G>A
|
|
|
NM_022168.4(IFIH1):c.623-9T>C
|
|
|
NM_022168.4(IFIH1):c.626T>C (p.Ile209Thr)
|
|
|
NM_022168.4(IFIH1):c.629A>C (p.Glu210Ala)
|
|
|
NM_022168.4(IFIH1):c.633T>A (p.Asn211Lys)
|
|
|
NM_022168.4(IFIH1):c.639A>G (p.Ser213=)
|
rs1683290388
|
|
NM_022168.4(IFIH1):c.63G>C (p.Arg21Ser)
|
rs553228814
|
|
NM_022168.4(IFIH1):c.645T>G (p.Val215=)
|
|
|
NM_022168.4(IFIH1):c.646G>A (p.Asp216Asn)
|
|
|
NM_022168.4(IFIH1):c.64G>A (p.Val22Met)
|
|
|
NM_022168.4(IFIH1):c.651T>C (p.Gly217=)
|
|
|
NM_022168.4(IFIH1):c.652C>A (p.Pro218Thr)
|
rs2105226887
|
|
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu)
|
rs539777490
|
|
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala)
|
rs1396124415
|
|
NM_022168.4(IFIH1):c.664G>A (p.Glu222Lys)
|
|
|
NM_022168.4(IFIH1):c.669A>G (p.Gln223=)
|
|
|
NM_022168.4(IFIH1):c.678A>G (p.Ser226=)
|
|
|
NM_022168.4(IFIH1):c.680C>A (p.Thr227Asn)
|
|
|
NM_022168.4(IFIH1):c.690G>A (p.Gln230=)
|
|
|
NM_022168.4(IFIH1):c.699G>A (p.Leu233=)
|
|
|
NM_022168.4(IFIH1):c.6G>T (p.Ser2=)
|
|
|
NM_022168.4(IFIH1):c.703A>G (p.Lys235Glu)
|
|
|
NM_022168.4(IFIH1):c.705G>T (p.Lys235Asn)
|
|
|
NM_022168.4(IFIH1):c.711C>G (p.Val237=)
|
|
|
NM_022168.4(IFIH1):c.713G>A (p.Trp238Ter)
|
rs1346345254
|
|
NM_022168.4(IFIH1):c.716dup (p.Met240fs)
|
rs1558875029
|
|
NM_022168.4(IFIH1):c.727A>T (p.Asn243Tyr)
|
|
|
NM_022168.4(IFIH1):c.728A>G (p.Asn243Ser)
|
|
|
NM_022168.4(IFIH1):c.730T>A (p.Ser244Thr)
|
rs753380568
|
|
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)
|
rs753380568
|
|
NM_022168.4(IFIH1):c.735A>C (p.Ser245=)
|
|
|
NM_022168.4(IFIH1):c.737_739dup (p.Ser247Ter)
|
rs1399614346
|
|
NM_022168.4(IFIH1):c.738A>G (p.Glu246=)
|
rs760304986
|
|
NM_022168.4(IFIH1):c.741A>G (p.Ser247=)
|
rs2105226749
|
|
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro)
|
rs1392840230
|
|
NM_022168.4(IFIH1):c.743C>G (p.Ser248Cys)
|
|
|
NM_022168.4(IFIH1):c.744T>G (p.Ser248=)
|
|
|
NM_022168.4(IFIH1):c.759T>G (p.Ser253=)
|
rs2105226726
|
|
NM_022168.4(IFIH1):c.764T>C (p.Val255Ala)
|
rs771145026
|
|
NM_022168.4(IFIH1):c.766T>G (p.Ser256Ala)
|
|
|
NM_022168.4(IFIH1):c.767_769+2dup
|
rs1323841528
|
|
NM_022168.4(IFIH1):c.768A>G (p.Ser256=)
|
|
|
NM_022168.4(IFIH1):c.769+16A>G
|
rs2105226690
|
|
NM_022168.4(IFIH1):c.769+18G>A
|
rs575221757
|
|
NM_022168.4(IFIH1):c.769+3A>G
|
rs769979161
|
|
NM_022168.4(IFIH1):c.770-10del
|
|
|
NM_022168.4(IFIH1):c.770-14G>A
|
|
|
NM_022168.4(IFIH1):c.770-37ATATTTTAAAA[3]
|
rs1231500153
|
|
NM_022168.4(IFIH1):c.775G>C (p.Asp259His)
|
|
|
NM_022168.4(IFIH1):c.77T>C (p.Ile26Thr)
|
rs1442046271
|
|
NM_022168.4(IFIH1):c.787G>A (p.Ala263Thr)
|
|
|
NM_022168.4(IFIH1):c.78C>G (p.Ile26Met)
|
|
|
NM_022168.4(IFIH1):c.797G>A (p.Ser266Asn)
|
|
|
NM_022168.4(IFIH1):c.797G>C (p.Ser266Thr)
|
|
|
NM_022168.4(IFIH1):c.799G>A (p.Val267Ile)
|
|
|
NM_022168.4(IFIH1):c.80A>C (p.Gln27Pro)
|
rs1261297304
|
|
NM_022168.4(IFIH1):c.80A>G (p.Gln27Arg)
|
|
|
NM_022168.4(IFIH1):c.810A>C (p.Leu270Phe)
|
|
|
NM_022168.4(IFIH1):c.811G>T (p.Asp271Tyr)
|
rs544744271
|
|
NM_022168.4(IFIH1):c.828T>A (p.His276Gln)
|
rs2105214711
|
|
NM_022168.4(IFIH1):c.829A>G (p.Asn277Asp)
|
|
|
NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)
|
|
|
NM_022168.4(IFIH1):c.855_874+1dup
|
|
|
NM_022168.4(IFIH1):c.860T>C (p.Met287Thr)
|
|
|
NM_022168.4(IFIH1):c.863G>T (p.Gly288Val)
|
|
|
NM_022168.4(IFIH1):c.864A>G (p.Gly288=)
|
rs2105214655
|
|
NM_022168.4(IFIH1):c.865A>G (p.Ser289Gly)
|
|
|
NM_022168.4(IFIH1):c.871T>A (p.Ser291Thr)
|
|
|
NM_022168.4(IFIH1):c.874+10_874+13del
|
|
|
NM_022168.4(IFIH1):c.874+11A>T
|
|
|
NM_022168.4(IFIH1):c.874+14G>A
|
|
|
NM_022168.4(IFIH1):c.874+14G>C
|
|
|
NM_022168.4(IFIH1):c.874+15_874+22del
|
|
|
NM_022168.4(IFIH1):c.874+6G>T
|
|
|
NM_022168.4(IFIH1):c.875-11A>C
|
rs186664431
|
|
NM_022168.4(IFIH1):c.875-11A>G
|
|
|
NM_022168.4(IFIH1):c.875-1G>C
|
rs1682933667
|
|
NM_022168.4(IFIH1):c.875-20T>C
|
|
|
NM_022168.4(IFIH1):c.875-4T>C
|
rs2105209201
|
|
NM_022168.4(IFIH1):c.875-6C>T
|
|
|
NM_022168.4(IFIH1):c.875-9C>T
|
|
|
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly)
|
rs2105209194
|
|
NM_022168.4(IFIH1):c.882G>A (p.Glu294=)
|
|
|
NM_022168.4(IFIH1):c.896G>T (p.Arg299Ile)
|
|
|
NM_022168.4(IFIH1):c.899C>T (p.Ala300Val)
|
|
|
NM_022168.4(IFIH1):c.8A>G (p.Asn3Ser)
|
rs2105238788
|
|
NM_022168.4(IFIH1):c.901T>A (p.Ser301Thr)
|
rs988912608
|
|
NM_022168.4(IFIH1):c.901T>C (p.Ser301Pro)
|
|
|
NM_022168.4(IFIH1):c.902C>T (p.Ser301Phe)
|
rs764283944
|
|
NM_022168.4(IFIH1):c.903C>T (p.Ser301=)
|
|
|
NM_022168.4(IFIH1):c.905C>T (p.Pro302Leu)
|
|
|
NM_022168.4(IFIH1):c.911C>T (p.Pro304Leu)
|
rs1682932788
|
|
NM_022168.4(IFIH1):c.91G>T (p.Val31Leu)
|
rs1683550615
|
|
NM_022168.4(IFIH1):c.921G>A (p.Gln307=)
|
|
|
NM_022168.4(IFIH1):c.924C>A (p.Leu308=)
|
|
|
NM_022168.4(IFIH1):c.924C>T (p.Leu308=)
|
rs1343497115
|
|
NM_022168.4(IFIH1):c.926G>C (p.Arg309Thr)
|
|
|
NM_022168.4(IFIH1):c.927G>A (p.Arg309=)
|
|
|
NM_022168.4(IFIH1):c.929del (p.Pro310fs)
|
rs1212715492
|
|
NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter)
|
rs1057520076
|
|
NM_022168.4(IFIH1):c.934C>T (p.Gln312Ter)
|
|
|
NM_022168.4(IFIH1):c.936A>G (p.Gln312=)
|
|
|
NM_022168.4(IFIH1):c.937del (p.Met313fs)
|
|
|
NM_022168.4(IFIH1):c.93G>A (p.Val31=)
|
rs900985139
|
|
NM_022168.4(IFIH1):c.946G>A (p.Ala316Thr)
|
rs1355343871
|
|
NM_022168.4(IFIH1):c.946G>T (p.Ala316Ser)
|
rs1355343871
|
|
NM_022168.4(IFIH1):c.948C>A (p.Ala316=)
|
rs2105209065
|
|
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly)
|
rs1682931873
|
|
NM_022168.4(IFIH1):c.960G>C (p.Leu320Phe)
|
|
|
NM_022168.4(IFIH1):c.963A>G (p.Glu321=)
|
|
|
NM_022168.4(IFIH1):c.971A>G (p.Asn324Ser)
|
rs2105209017
|
|
NM_022168.4(IFIH1):c.973A>T (p.Ile325Phe)
|
rs1474944804
|
|
NM_022168.4(IFIH1):c.974T>C (p.Ile325Thr)
|
|
|
NM_022168.4(IFIH1):c.975C>T (p.Ile325=)
|
rs2105209011
|
|
NM_022168.4(IFIH1):c.977T>C (p.Ile326Thr)
|
rs1682931491
|
|
NM_022168.4(IFIH1):c.97G>T (p.Asp33Tyr)
|
|
|
NM_022168.4(IFIH1):c.980T>C (p.Ile327Thr)
|
|
|
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
|
rs923064561
|
|
NM_022168.4(IFIH1):c.987C>A (p.Leu329=)
|
rs746614543
|
|
NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg)
|
rs1576229572
|
|
NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile)
|
rs1576229572
|
|
NM_022168.4(IFIH1):c.996G>A (p.Gly332=)
|
|
|
NM_022168.4(IFIH1):c.996G>T (p.Gly332=)
|
rs1576229569
|
|
NM_022168.4(IFIH1):c.997A>G (p.Ser333Gly)
|
|
|
NM_024570.4(RNASEH2B):c.*174C>T
|
rs1952055649
|
|
NM_024570.4(RNASEH2B):c.*63G>T
|
rs751735556
|
|
NM_024570.4(RNASEH2B):c.-107G>A
|
rs886050289
|
|
NM_024570.4(RNASEH2B):c.105_107del (p.Met36del)
|
rs1566079047
|
|
NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile)
|
|
|
NM_024570.4(RNASEH2B):c.121del (p.Val41fs)
|
rs1452451283
|
|
NM_024570.4(RNASEH2B):c.126C>T (p.Asn42=)
|
|
|
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)
|
|
|
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs)
|
rs2137925083
|
|
NM_024570.4(RNASEH2B):c.12C>G (p.Gly4=)
|
|
|
NM_024570.4(RNASEH2B):c.132T>C (p.Cys44=)
|
|
|
NM_024570.4(RNASEH2B):c.136+10C>G
|
|
|
NM_024570.4(RNASEH2B):c.136+15C>A
|
rs2137925214
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024570.4(RNASEH2B):c.137-10G>A
|
|
|
NM_024570.4(RNASEH2B):c.137-11del
|
rs1163774369
|
|
NM_024570.4(RNASEH2B):c.137-13T>G
|
|
|
NM_024570.4(RNASEH2B):c.137-17_137-14del
|
|
|
NM_024570.4(RNASEH2B):c.137-4A>C
|
|
|
NM_024570.4(RNASEH2B):c.137-8C>T
|
|
|
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu)
|
rs1951648632
|
|
NM_024570.4(RNASEH2B):c.150T>C (p.Ile50=)
|
|
|
NM_024570.4(RNASEH2B):c.153C>T (p.Tyr51=)
|
rs772503413
|
|
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)
|
|
|
NM_024570.4(RNASEH2B):c.15G>T (p.Val5=)
|
|
|
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)
|
|
|
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile)
|
rs1458407476
|
|
NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)
|
|
|
NM_024570.4(RNASEH2B):c.171A>G (p.Leu57=)
|
|
|
NM_024570.4(RNASEH2B):c.178C>T (p.Leu60=)
|
|
|
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)
|
rs75325951
|
|
NM_024570.4(RNASEH2B):c.180G>C (p.Leu60=)
|
rs556877869
|
|
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys)
|
rs2137933016
|
|
NM_024570.4(RNASEH2B):c.18C>T (p.Asp6=)
|
rs2137866261
|
|
NM_024570.4(RNASEH2B):c.192A>G (p.Lys64=)
|
|
|
NM_024570.4(RNASEH2B):c.207A>G (p.Lys69=)
|
|
|
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys)
|
rs1951650677
|
|
NM_024570.4(RNASEH2B):c.21C>T (p.Cys7=)
|
|
|
NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=)
|
|
|
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)
|
|
|
NM_024570.4(RNASEH2B):c.231A>G (p.Gln77=)
|
|
|
NM_024570.4(RNASEH2B):c.234A>C (p.Ser78=)
|
|
|
NM_024570.4(RNASEH2B):c.234A>G (p.Ser78=)
|
|
|
NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg)
|
rs1951651077
|
|
NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala)
|
rs1328842720
|
|
NM_024570.4(RNASEH2B):c.244+12G>A
|
|
|
NM_024570.4(RNASEH2B):c.244+6T>C
|
|
|
NM_024570.4(RNASEH2B):c.245-12T>C
|
|
|
NM_024570.4(RNASEH2B):c.245-12T>G
|
rs1019503838
|
|
NM_024570.4(RNASEH2B):c.245-20A>T
|
rs1335370320
|
|
NM_024570.4(RNASEH2B):c.245-20_245-19del
|
rs2137937744
|
|
NM_024570.4(RNASEH2B):c.245-2A>C
|
|
|
NM_024570.4(RNASEH2B):c.245-2A>G
|
|
|
NM_024570.4(RNASEH2B):c.245-5T>C
|
|
|
NM_024570.4(RNASEH2B):c.245-7T>C
|
|
|
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val)
|
rs1951668772
|
|
NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn)
|
rs1879259645
|
|
NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His)
|
rs1879259645
|
|
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)
|
|
|
NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)
|
|
|
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)
|
|
|
NM_024570.4(RNASEH2B):c.282A>G (p.Leu94=)
|
|
|
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs)
|
rs1566080738
|
|
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met)
|
rs2137938188
|
|
NM_024570.4(RNASEH2B):c.288G>T (p.Leu96=)
|
|
|
NM_024570.4(RNASEH2B):c.294C>A (p.Leu98=)
|
|
|
NM_024570.4(RNASEH2B):c.294C>T (p.Leu98=)
|
|
|
NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys)
|
|
|
NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)
|
|
|
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)
|
rs1457494794
|
|
NM_024570.4(RNASEH2B):c.30G>A (p.Gly10=)
|
rs1244567393
|
|
NM_024570.4(RNASEH2B):c.318G>A (p.Lys106=)
|
|
|
NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)
|
|
|
NM_024570.4(RNASEH2B):c.321+10C>T
|
|
|
NM_024570.4(RNASEH2B):c.321+11A>G
|
|
|
NM_024570.4(RNASEH2B):c.321+12G>T
|
|
|
NM_024570.4(RNASEH2B):c.321+15C>G
|
|
|
NM_024570.4(RNASEH2B):c.321+16G>C
|
|
|
NM_024570.4(RNASEH2B):c.321+16_321+17dup
|
|
|
NM_024570.4(RNASEH2B):c.321+18A>C
|
|
|
NM_024570.4(RNASEH2B):c.321+18A>T
|
|
|
NM_024570.4(RNASEH2B):c.321+20C>T
|
|
|
NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=)
|
|
|
NM_024570.4(RNASEH2B):c.322-10G>A
|
|
|
NM_024570.4(RNASEH2B):c.322-10_322-9del
|
rs748279384
|
|
NM_024570.4(RNASEH2B):c.322-14A>G
|
|
|
NM_024570.4(RNASEH2B):c.322-14_322-11del
|
|
|
NM_024570.4(RNASEH2B):c.322-15T>C
|
|
|
NM_024570.4(RNASEH2B):c.322-15dup
|
|
|
NM_024570.4(RNASEH2B):c.322-17A>G
|
|
|
NM_024570.4(RNASEH2B):c.322-18A>G
|
|
|
NM_024570.4(RNASEH2B):c.322-18A>T
|
rs1307534508
|
|
NM_024570.4(RNASEH2B):c.322-19C>A
|
rs1951726082
|
|
NM_024570.4(RNASEH2B):c.322-2A>T
|
|
|
NM_024570.4(RNASEH2B):c.322-3C>G
|
|
|
NM_024570.4(RNASEH2B):c.322-4T>A
|
rs1206184671
|
|
NM_024570.4(RNASEH2B):c.322-4del
|
|
|
NM_024570.4(RNASEH2B):c.322-4dup
|
rs770781962
|
|
NM_024570.4(RNASEH2B):c.322-5T>C
|
|
|
NM_024570.4(RNASEH2B):c.322-9T>G
|
|
|
NM_024570.4(RNASEH2B):c.324G>A (p.Gly108=)
|
|
|
NM_024570.4(RNASEH2B):c.327G>A (p.Lys109=)
|
|
|
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)
|
rs2137952274
|
|
NM_024570.4(RNASEH2B):c.333G>A (p.Gln111=)
|
rs1951726697
|
|
NM_024570.4(RNASEH2B):c.336C>G (p.Pro112=)
|
rs1161911136
|
|
NM_024570.4(RNASEH2B):c.336C>T (p.Pro112=)
|
|
|
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu)
|
rs1363440628
|
|
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)
|
|
|
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)
|
|
|
NM_024570.4(RNASEH2B):c.354G>A (p.Val118=)
|
rs1951726994
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024570.4(RNASEH2B):c.361G>A (p.Val121Met)
|
rs764980431
|
|
NM_024570.4(RNASEH2B):c.361G>T (p.Val121Leu)
|
rs764980431
|
|
NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys)
|
|
|
NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=)
|
|
|
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val)
|
rs569343532
|
|
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr)
|
rs780398368
|
|
NM_024570.4(RNASEH2B):c.396T>G (p.Pro132=)
|
|
|
NM_024570.4(RNASEH2B):c.402T>G (p.Leu134=)
|
|
|
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp)
|
rs1951727784
|
|
NM_024570.4(RNASEH2B):c.408G>A (p.Lys136=)
|
|
|
NM_024570.4(RNASEH2B):c.420T>C (p.His140=)
|
|
|
NM_024570.4(RNASEH2B):c.426A>G (p.Thr142=)
|
rs2137952831
|
|
NM_024570.4(RNASEH2B):c.436+10A>C
|
rs2137952956
|
|
NM_024570.4(RNASEH2B):c.436+1G>A
|
rs80087649
|
|
NM_024570.4(RNASEH2B):c.436+6G>C
|
|
|
NM_024570.4(RNASEH2B):c.436+8A>G
|
|
|
NM_024570.4(RNASEH2B):c.437-18T>A
|
|
|
NM_024570.4(RNASEH2B):c.437-20A>G
|
|
|
NM_024570.4(RNASEH2B):c.437-5T>C
|
|
|
NM_024570.4(RNASEH2B):c.437-9T>C
|
|
|
NM_024570.4(RNASEH2B):c.437-9del
|
rs772054107
|
|
NM_024570.4(RNASEH2B):c.437-9dup
|
rs772054107
|
|
NM_024570.4(RNASEH2B):c.444A>G (p.Pro148=)
|
|
|
NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln)
|
rs770355902
|
|
NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val)
|
rs1593470380
|
|
NM_024570.4(RNASEH2B):c.456C>T (p.Asn152=)
|
|
|
NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys)
|
|
|
NM_024570.4(RNASEH2B):c.468C>T (p.Tyr156=)
|
|
|
NM_024570.4(RNASEH2B):c.474C>T (p.Tyr158=)
|
|
|
NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn)
|
rs76219783
|
|
NM_024570.4(RNASEH2B):c.476del (p.Ser159fs)
|
rs2137982729
|
|
NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)
|
|
|
NM_024570.4(RNASEH2B):c.483G>A (p.Glu161=)
|
|
|
NM_024570.4(RNASEH2B):c.489A>G (p.Thr163=)
|
|
|
NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs)
|
rs1951857498
|
|
NM_024570.4(RNASEH2B):c.492A>G (p.Leu164=)
|
rs1223516700
|
|
NM_024570.4(RNASEH2B):c.4del (p.Ala2fs)
|
rs2137866137
|
|
NM_024570.4(RNASEH2B):c.501G>A (p.Leu167=)
|
rs1951857767
|
|
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs)
|
rs1085307091
|
|
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)
|
|
|
NM_024570.4(RNASEH2B):c.510+10C>T
|
|
|
NM_024570.4(RNASEH2B):c.510+12C>G
|
|
|
NM_024570.4(RNASEH2B):c.510+12C>T
|
|
|
NM_024570.4(RNASEH2B):c.510+13T>C
|
|
|
NM_024570.4(RNASEH2B):c.510+17G>A
|
|
|
NM_024570.4(RNASEH2B):c.510+19G>A
|
|
|
NM_024570.4(RNASEH2B):c.510+1del
|
rs1593470515
|
|
NM_024570.4(RNASEH2B):c.510+3A>G
|
rs1387848478
|
|
NM_024570.4(RNASEH2B):c.510+6G>T
|
rs1951858134
|
|
NM_024570.4(RNASEH2B):c.510+7T>G
|
rs1030880550
|
|
NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=)
|
rs2137982984
|
|
NM_024570.4(RNASEH2B):c.511-16C>T
|
|
|
NM_024570.4(RNASEH2B):c.511-18C>A
|
|
|
NM_024570.4(RNASEH2B):c.511-19C>A
|
|
|
NM_024570.4(RNASEH2B):c.511-1G>A
|
|
|
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA
|
|
|
NM_024570.4(RNASEH2B):c.511-4A>T
|
|
|
NM_024570.4(RNASEH2B):c.511-5C>A
|
rs2137990410
|
|
NM_024570.4(RNASEH2B):c.511-9G>A
|
|
|
NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala)
|
|
|
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile)
|
rs902917241
|
|
NM_024570.4(RNASEH2B):c.522T>C (p.Thr174=)
|
rs200390483
|
|
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=)
|
rs768340427
|
|
NM_024570.4(RNASEH2B):c.531A>G (p.Ala177=)
|
rs2137990642
|
|
NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser)
|
rs1951888592
|
|
NM_024570.4(RNASEH2B):c.54C>T (p.Phe18=)
|
rs2137866619
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024570.4(RNASEH2B):c.555C>G (p.Val185=)
|
|
|
NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly)
|
|
|
NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu)
|
rs1951889253
|
|
NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile)
|
|
|
NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr)
|
rs2137990955
|
|
NM_024570.4(RNASEH2B):c.579A>G (p.Ala193=)
|
|
|
NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu)
|
|
|
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys)
|
rs745471919
|
|
NM_024570.4(RNASEH2B):c.597A>G (p.Gln199=)
|
|
|
NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr)
|
|
|
NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro)
|
rs2137991056
|
|
NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His)
|
|
|
NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu)
|
rs1951889997
|
|
NM_024570.4(RNASEH2B):c.616+10G>A
|
|
|
NM_024570.4(RNASEH2B):c.616+10G>T
|
|
|
NM_024570.4(RNASEH2B):c.616+12A>G
|
|
|
NM_024570.4(RNASEH2B):c.616+13T>C
|
|
|
NM_024570.4(RNASEH2B):c.616+2dup
|
|
|
NM_024570.4(RNASEH2B):c.616+9dup
|
|
|
NM_024570.4(RNASEH2B):c.617-11G>A
|
rs201473333
|
|
NM_024570.4(RNASEH2B):c.617-11G>C
|
|
|
NM_024570.4(RNASEH2B):c.617-12del
|
|
|
NM_024570.4(RNASEH2B):c.617-14T>C
|
|
|
NM_024570.4(RNASEH2B):c.617-14_617-12del
|
|
|
NM_024570.4(RNASEH2B):c.617-17_617-15del
|
rs781083153
|
|
NM_024570.4(RNASEH2B):c.617-19C>T
|
|
|
NM_024570.4(RNASEH2B):c.617-2A>G
|
|
|
NM_024570.4(RNASEH2B):c.617-6T>A
|
|
|
NM_024570.4(RNASEH2B):c.617-9_617-8del
|
|
|
NM_024570.4(RNASEH2B):c.618G>T (p.Glu206Asp)
|
|
|
NM_024570.4(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn)
|
rs1593474848
|
|
NM_024570.4(RNASEH2B):c.623A>G (p.Tyr208Cys)
|
rs2138000084
|
|
NM_024570.4(RNASEH2B):c.631T>C (p.Tyr211His)
|
rs1951926945
|
|
NM_024570.4(RNASEH2B):c.638A>G (p.His213Arg)
|
rs200648780
|
|
NM_024570.4(RNASEH2B):c.639T>A (p.His213Gln)
|
rs1265842301
|
|
NM_024570.4(RNASEH2B):c.639T>C (p.His213=)
|
rs1265842301
|
|
NM_024570.4(RNASEH2B):c.63del (p.Glu22fs)
|
rs2137866660
|
|
NM_024570.4(RNASEH2B):c.64+11G>A
|
|
|
NM_024570.4(RNASEH2B):c.64+11G>T
|
|
|
NM_024570.4(RNASEH2B):c.64+13G>T
|
|
|
NM_024570.4(RNASEH2B):c.64+14C>T
|
|
|
NM_024570.4(RNASEH2B):c.64+16C>G
|
|
|
NM_024570.4(RNASEH2B):c.64+16C>T
|
rs1321434798
|
|
NM_024570.4(RNASEH2B):c.64+17G>A
|
rs1451402273
|
|
NM_024570.4(RNASEH2B):c.64+2_64+6del
|
|
|
NM_024570.4(RNASEH2B):c.64+3A>G
|
|
|
NM_024570.4(RNASEH2B):c.64+7_64+8del
|
|
|
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp)
|
rs977521667
|
|
NM_024570.4(RNASEH2B):c.645G>A (p.Leu215=)
|
|
|
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)
|
|
|
NM_024570.4(RNASEH2B):c.65-13G>C
|
|
|
NM_024570.4(RNASEH2B):c.65-18T>A
|
rs2137924729
|
|
NM_024570.4(RNASEH2B):c.65-19A>G
|
rs2137924712
|
|
NM_024570.4(RNASEH2B):c.65-1G>A
|
|
|
NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His)
|
rs77391331
|
|
NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val)
|
|
|
NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro)
|
rs768565639
|
|
NM_024570.4(RNASEH2B):c.698+13T>A
|
|
|
NM_024570.4(RNASEH2B):c.698+14A>G
|
|
|
NM_024570.4(RNASEH2B):c.698+16C>A
|
|
|
NM_024570.4(RNASEH2B):c.698+1G>C
|
|
|
NM_024570.4(RNASEH2B):c.699-10A>T
|
|
|
NM_024570.4(RNASEH2B):c.699-11A>G
|
rs886050290
|
|
NM_024570.4(RNASEH2B):c.699-20G>A
|
rs749427005
|
|
NM_024570.4(RNASEH2B):c.699-6T>C
|
|
|
NM_024570.4(RNASEH2B):c.699-9C>G
|
rs2138005108
|
|
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)
|
|
|
NM_024570.4(RNASEH2B):c.6C>G (p.Ala2=)
|
|
|
NM_024570.4(RNASEH2B):c.702T>C (p.Leu234=)
|
|
|
NM_024570.4(RNASEH2B):c.705A>G (p.Pro235=)
|
|
|
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)
|
|
|
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu)
|
rs372632599
|
|
NM_024570.4(RNASEH2B):c.721T>C (p.Leu241=)
|
|
|
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)
|
|
|
NM_024570.4(RNASEH2B):c.72A>G (p.Leu24=)
|
rs748052389
|
|
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe)
|
rs748052389
|
|
NM_024570.4(RNASEH2B):c.735A>G (p.Pro245=)
|
|
|
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)
|
|
|
NM_024570.4(RNASEH2B):c.741+11G>A
|
|
|
NM_024570.4(RNASEH2B):c.741+20A>G
|
|
|
NM_024570.4(RNASEH2B):c.741+6A>G
|
|
|
NM_024570.4(RNASEH2B):c.741+8G>A
|
|
|
NM_024570.4(RNASEH2B):c.741+8G>T
|
|
|
NM_024570.4(RNASEH2B):c.742-12C>T
|
rs779113809
|
|
NM_024570.4(RNASEH2B):c.742-13T>C
|
|
|
NM_024570.4(RNASEH2B):c.742-15G>T
|
rs2138019958
|
|
NM_024570.4(RNASEH2B):c.742-19C>T
|
|
|
NM_024570.4(RNASEH2B):c.742-1_742delinsAC
|
|
|
NM_024570.4(RNASEH2B):c.742-9A>G
|
rs1952008392
|
|
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)
|
|
|
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly)
|
rs1951613237
|
|
NM_024570.4(RNASEH2B):c.783T>C (p.Asp261=)
|
rs1432063381
|
|
NM_024570.4(RNASEH2B):c.789T>C (p.Thr263=)
|
|
|
NM_024570.4(RNASEH2B):c.78T>C (p.Asp26=)
|
|
|
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)
|
|
|
NM_024570.4(RNASEH2B):c.810G>A (p.Leu270=)
|
|
|
NM_024570.4(RNASEH2B):c.813G>A (p.Lys271=)
|
|
|
NM_024570.4(RNASEH2B):c.822+14G>A
|
|
|
NM_024570.4(RNASEH2B):c.822+15G>A
|
|
|
NM_024570.4(RNASEH2B):c.822+15G>T
|
|
|
NM_024570.4(RNASEH2B):c.822+18T>C
|
|
|
NM_024570.4(RNASEH2B):c.822+8G>A
|
|
|
NM_024570.4(RNASEH2B):c.822+9G>A
|
|
|
NM_024570.4(RNASEH2B):c.823-13T>A
|
|
|
NM_024570.4(RNASEH2B):c.823-13T>C
|
|
|
NM_024570.4(RNASEH2B):c.823-17C>T
|
rs773982703
|
|
NM_024570.4(RNASEH2B):c.823-18T>G
|
|
|
NM_024570.4(RNASEH2B):c.823-18_823-15del
|
|
|
NM_024570.4(RNASEH2B):c.823-19C>G
|
|
|
NM_024570.4(RNASEH2B):c.823-5A>G
|
|
|
NM_024570.4(RNASEH2B):c.823-6del
|
|
|
NM_024570.4(RNASEH2B):c.823-9C>A
|
|
|
NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs)
|
rs746868812
|
|
NM_024570.4(RNASEH2B):c.831C>T (p.Ser277=)
|
rs2138027156
|
|
NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro)
|
rs2138027194
|
|
NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)
|
|
|
NM_024570.4(RNASEH2B):c.840T>G (p.Thr280=)
|
|
|
NM_024570.4(RNASEH2B):c.843A>C (p.Ala281=)
|
|
|
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)
|
|
|
NM_024570.4(RNASEH2B):c.856T>C (p.Leu286=)
|
|
|
NM_024570.4(RNASEH2B):c.858G>A (p.Leu286=)
|
|
|
NM_024570.4(RNASEH2B):c.867T>A (p.Val289=)
|
|
|
NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del)
|
rs776706264
|
|
NM_024570.4(RNASEH2B):c.870C>T (p.Asp290=)
|
|
|
NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr)
|
|
|
NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile)
|
|
|
NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His)
|
rs2138027653
|
|
NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)
|
|
|
NM_024570.4(RNASEH2B):c.915_918del (p.Asn305fs)
|
rs2138027647
|
|
NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs)
|
rs75254367
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024570.4(RNASEH2B):c.929del (p.Gly310fs)
|
rs1952051723
|
|
NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=)
|
|
|
NM_024570.4(RNASEH2B):c.9T>G (p.Ala3=)
|
|
|
NM_032193.3(RNASEH2C):c.-157C>A
|
rs535406222
|
|
NM_032193.3(RNASEH2C):c.-89C>G
|
rs886048503
|
|
NM_032193.4(RNASEH2C):c.*1217G>C
|
rs886048490
|
|
NM_032193.4(RNASEH2C):c.*1378G>C
|
rs746434462
|
|
NM_032193.4(RNASEH2C):c.*1768C>T
|
rs886048486
|
|
NM_032193.4(RNASEH2C):c.*1806G>A
|
rs886048484
|
|
NM_032193.4(RNASEH2C):c.*1831G>A
|
rs886048483
|
|
NM_032193.4(RNASEH2C):c.*310C>T
|
rs190723966
|
|
NM_032193.4(RNASEH2C):c.*451C>T
|
rs886048496
|
|
NM_032193.4(RNASEH2C):c.*45_*46insG
|
rs886048498
|
|
NM_032193.4(RNASEH2C):c.*532C>G
|
rs886048495
|
|
NM_032193.4(RNASEH2C):c.*560C>T
|
rs886048494
|
|
NM_032193.4(RNASEH2C):c.*706T>A
|
rs886048493
|
|
NM_032193.4(RNASEH2C):c.*78A>G
|
rs1857332269
|
|
NM_032193.4(RNASEH2C):c.*862A>C
|
rs886048491
|
|
NM_032193.4(RNASEH2C):c.*948dup
|
rs142614068
|
|
NM_032193.4(RNASEH2C):c.-27G>T
|
rs549471118
|
|
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr)
|
rs1857361152
|
|
NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)
|
|
|
NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp)
|
rs759651650
|
|
NM_032193.4(RNASEH2C):c.10G>A (p.Gly4Ser)
|
rs1857363681
|
|
NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)
|
|
|
NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr)
|
rs773527127
|
|
NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)
|
|
|
NM_032193.4(RNASEH2C):c.117C>T (p.Asp39=)
|
rs2135654177
|
|
NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)
|
|
|
NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)
|
|
|
NM_032193.4(RNASEH2C):c.126C>G (p.Ala42=)
|
|
|
NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=)
|
|
|
NM_032193.4(RNASEH2C):c.12C>G (p.Gly4=)
|
rs1857363592
|
|
NM_032193.4(RNASEH2C):c.12C>T (p.Gly4=)
|
|
|
NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu)
|
|
|
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
|
|
|
NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys)
|
rs1194474428
|
|
NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu)
|
rs2135654103
|
|
NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)
|
|
|
NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=)
|
rs1857359996
|
|
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu)
|
rs1857359953
|
|
NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)
|
|
|
NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)
|
|
|
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val)
|
rs1857359607
|
|
NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)
|
|
|
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
|
|
|
NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=)
|
rs2135654018
|
|
NM_032193.4(RNASEH2C):c.15C>T (p.Asp5=)
|
|
|
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
|
|
|
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val)
|
rs1233458293
|
|
NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=)
|
|
|
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala)
|
rs1857359394
|
|
NM_032193.4(RNASEH2C):c.168C>G (p.Pro56=)
|
|
|
NM_032193.4(RNASEH2C):c.172+13G>T
|
|
|
NM_032193.4(RNASEH2C):c.172+14C>A
|
rs1027275130
|
|
NM_032193.4(RNASEH2C):c.172+15C>T
|
rs2135653906
|
|
NM_032193.4(RNASEH2C):c.172+19C>T
|
|
|
NM_032193.4(RNASEH2C):c.172+5G>A
|
rs781232402
|
|
NM_032193.4(RNASEH2C):c.172+7C>T
|
|
|
NM_032193.4(RNASEH2C):c.172+8C>T
|
|
|
NM_032193.4(RNASEH2C):c.173-12C>T
|
|
|
NM_032193.4(RNASEH2C):c.173-13C>T
|
rs764665591
|
|
NM_032193.4(RNASEH2C):c.173-15C>T
|
|
|
NM_032193.4(RNASEH2C):c.173-4C>G
|
rs886048501
|
|
NM_032193.4(RNASEH2C):c.173-4C>T
|
|
|
NM_032193.4(RNASEH2C):c.174A>C (p.Gly58=)
|
|
|
NM_032193.4(RNASEH2C):c.174A>T (p.Gly58=)
|
|
|
NM_032193.4(RNASEH2C):c.175C>G (p.Leu59Val)
|
|
|
NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys)
|
|
|
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
|
rs772940104
|
|
NM_032193.4(RNASEH2C):c.186G>A (p.Ser62=)
|
|
|
NM_032193.4(RNASEH2C):c.192G>A (p.Arg64=)
|
|
|
NM_032193.4(RNASEH2C):c.192G>C (p.Arg64=)
|
|
|
NM_032193.4(RNASEH2C):c.192G>T (p.Arg64=)
|
|
|
NM_032193.4(RNASEH2C):c.193G>A (p.Gly65Ser)
|
|
|
NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)
|
|
|
NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val)
|
|
|
NM_032193.4(RNASEH2C):c.196C>T (p.Arg66Cys)
|
rs2135653318
|
|
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val)
|
rs1427683229
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032193.4(RNASEH2C):c.213G>A (p.Glu71=)
|
|
|
NM_032193.4(RNASEH2C):c.216G>A (p.Glu72=)
|
|
|
NM_032193.4(RNASEH2C):c.21G>A (p.Ala7=)
|
|
|
NM_032193.4(RNASEH2C):c.222G>A (p.Ala74=)
|
rs1365307674
|
|
NM_032193.4(RNASEH2C):c.222G>T (p.Ala74=)
|
|
|
NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu)
|
|
|
NM_032193.4(RNASEH2C):c.22G>C (p.Ala8Pro)
|
rs2135654514
|
|
NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)
|
|
|
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val)
|
rs1857352526
|
|
NM_032193.4(RNASEH2C):c.237C>G (p.Leu79=)
|
|
|
NM_032193.4(RNASEH2C):c.243A>T (p.Gly81=)
|
rs2135653152
|
|
NM_032193.4(RNASEH2C):c.244T>C (p.Tyr82His)
|
|
|
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys)
|
rs2135653148
|
|
NM_032193.4(RNASEH2C):c.246C>T (p.Tyr82=)
|
|
|
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met)
|
rs772757667
|
|
NM_032193.4(RNASEH2C):c.24C>T (p.Ala8=)
|
|
|
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
|
|
|
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
|
|
|
NM_032193.4(RNASEH2C):c.255G>A (p.Val85=)
|
|
|
NM_032193.4(RNASEH2C):c.258A>G (p.Thr86=)
|
|
|
NM_032193.4(RNASEH2C):c.258A>T (p.Thr86=)
|
rs2135653109
|
|
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
|
|
|
NM_032193.4(RNASEH2C):c.260A>G (p.Glu87Gly)
|
rs939276490
|
|
NM_032193.4(RNASEH2C):c.261A>C (p.Glu87Asp)
|
rs1857351791
|
|
NM_032193.4(RNASEH2C):c.261A>G (p.Glu87=)
|
rs1857351791
|
|
NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs)
|
|
|
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del)
|
rs141875736
|
|
NM_032193.4(RNASEH2C):c.267G>A (p.Lys89=)
|
|
|
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val)
|
rs1565213438
|
|
NM_032193.4(RNASEH2C):c.269A>C (p.Lys90Thr)
|
rs772347588
|
|
NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu)
|
|
|
NM_032193.4(RNASEH2C):c.27C>T (p.Ile9=)
|
|
|
NM_032193.4(RNASEH2C):c.289G>A (p.Asp97Asn)
|
rs771160923
|
|
NM_032193.4(RNASEH2C):c.292C>G (p.Pro98Ala)
|
rs148186114
|
|
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser)
|
rs148186114
|
|
NM_032193.4(RNASEH2C):c.294C>T (p.Pro98=)
|
|
|
NM_032193.4(RNASEH2C):c.295T>C (p.Leu99=)
|
|
|
NM_032193.4(RNASEH2C):c.297G>C (p.Leu99Phe)
|
rs1390405064
|
|
NM_032193.4(RNASEH2C):c.306C>T (p.Ser102=)
|
|
|
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg)
|
rs766900205
|
|
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
|
|
|
NM_032193.4(RNASEH2C):c.309G>A (p.Gly103=)
|
|
|
NM_032193.4(RNASEH2C):c.309G>C (p.Gly103=)
|
|
|
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile)
|
rs1318717066
|
|
NM_032193.4(RNASEH2C):c.315C>T (p.Asp105=)
|
|
|
NM_032193.4(RNASEH2C):c.316G>A (p.Asp106Asn)
|
rs1379430577
|
|
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly)
|
rs1857363170
|
|
NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)
|
|
|
NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del)
|
|
|
NM_032193.4(RNASEH2C):c.324G>A (p.Glu108=)
|
|
|
NM_032193.4(RNASEH2C):c.328G>A (p.Glu110Lys)
|
rs759057632
|
|
NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro)
|
|
|
NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys)
|
|
|
NM_032193.4(RNASEH2C):c.332C>T (p.Pro111Leu)
|
rs113396656
|
|
NM_032193.4(RNASEH2C):c.333G>A (p.Pro111=)
|
|
|
NM_032193.4(RNASEH2C):c.334C>T (p.Leu112=)
|
|
|
NM_032193.4(RNASEH2C):c.33G>A (p.Arg11=)
|
rs2135654495
|
|
NM_032193.4(RNASEH2C):c.340C>A (p.Arg114=)
|
|
|
NM_032193.4(RNASEH2C):c.342G>A (p.Arg114=)
|
|
|
NM_032193.4(RNASEH2C):c.343G>A (p.Asp115Asn)
|
|
|
NM_032193.4(RNASEH2C):c.348+10G>A
|
rs2135652770
|
|
NM_032193.4(RNASEH2C):c.348+10G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+11G>A
|
rs376075138
|
|
NM_032193.4(RNASEH2C):c.348+11G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+12G>A
|
|
|
NM_032193.4(RNASEH2C):c.348+12G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+17G>A
|
rs1857349059
|
|
NM_032193.4(RNASEH2C):c.348+17G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+19T>G
|
|
|
NM_032193.4(RNASEH2C):c.348+7A>G
|
|
|
NM_032193.4(RNASEH2C):c.348+7A>T
|
|
|
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu)
|
rs1314714026
|
|
NM_032193.4(RNASEH2C):c.349-10C>T
|
|
|
NM_032193.4(RNASEH2C):c.349-12C>A
|
|
|
NM_032193.4(RNASEH2C):c.349-12C>T
|
rs368723275
|
|
NM_032193.4(RNASEH2C):c.349-13G>A
|
|
|
NM_032193.4(RNASEH2C):c.349-14G>C
|
|
|
NM_032193.4(RNASEH2C):c.349-18G>A
|
|
|
NM_032193.4(RNASEH2C):c.349-8T>G
|
|
|
NM_032193.4(RNASEH2C):c.349-9C>G
|
rs535966679
|
|
NM_032193.4(RNASEH2C):c.349-9C>T
|
rs535966679
|
|
NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His)
|
|
|
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu)
|
rs2135652511
|
|
NM_032193.4(RNASEH2C):c.357C>T (p.Phe119=)
|
|
|
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro)
|
rs765558776
|
|
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
|
|
|
NM_032193.4(RNASEH2C):c.369T>C (p.Thr123=)
|
|
|
NM_032193.4(RNASEH2C):c.36C>T (p.His12=)
|
|
|
NM_032193.4(RNASEH2C):c.372C>G (p.Ala124=)
|
rs1857346736
|
|
NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)
|
|
|
NM_032193.4(RNASEH2C):c.381C>T (p.Ser127=)
|
|
|
NM_032193.4(RNASEH2C):c.391C>T (p.Leu131=)
|
rs1393994911
|
|
NM_032193.4(RNASEH2C):c.393G>T (p.Leu131=)
|
|
|
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp)
|
rs2135652409
|
|
NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=)
|
|
|
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
|
|
|
NM_032193.4(RNASEH2C):c.402G>A (p.Leu134=)
|
|
|
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
|
|
|
NM_032193.4(RNASEH2C):c.405G>A (p.Glu135=)
|
|
|
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
|
|
|
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser)
|
rs77834781
|
|
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
|
|
|
NM_032193.4(RNASEH2C):c.420G>T (p.Pro140=)
|
|
|
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly)
|
rs1857345402
|
|
NM_032193.4(RNASEH2C):c.426C>T (p.Ala142=)
|
rs753557040
|
|
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile)
|
rs75146158
|
|
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro)
|
rs774773395
|
|
NM_032193.4(RNASEH2C):c.435T>C (p.Arg145=)
|
|
|
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
|
|
|
NM_032193.4(RNASEH2C):c.438G>A (p.Gly146=)
|
|
|
NM_032193.4(RNASEH2C):c.439G>A (p.Ala147Thr)
|
rs1388954201
|
|
NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp)
|
rs759644653
|
|
NM_032193.4(RNASEH2C):c.440C>T (p.Ala147Val)
|
rs2135652251
|
|
NM_032193.4(RNASEH2C):c.441C>G (p.Ala147=)
|
rs1857344657
|
|
NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser)
|
|
|
NM_032193.4(RNASEH2C):c.447T>C (p.Thr149=)
|
|
|
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)
|
rs1064793942
|
|
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser)
|
rs78464826
|
|
NM_032193.4(RNASEH2C):c.452C>T (p.Pro151Leu)
|
rs2135652204
|
|
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile)
|
rs781376271
|
|
NM_032193.4(RNASEH2C):c.468+10C>G
|
|
|
NM_032193.4(RNASEH2C):c.468+11G>A
|
|
|
NM_032193.4(RNASEH2C):c.468+12_468+13del
|
rs765857630
|
|
NM_032193.4(RNASEH2C):c.468+13G>C
|
rs182000627
|
|
NM_032193.4(RNASEH2C):c.468+14G>A
|
rs759952065
|
|
NM_032193.4(RNASEH2C):c.468+14G>T
|
|
|
NM_032193.4(RNASEH2C):c.468+15_468+22del
|
|
|
NM_032193.4(RNASEH2C):c.468+20C>T
|
|
|
NM_032193.4(RNASEH2C):c.468+20del
|
|
|
NM_032193.4(RNASEH2C):c.468+5G>A
|
rs753880827
|
|
NM_032193.4(RNASEH2C):c.468+5G>C
|
rs753880827
|
|
NM_032193.4(RNASEH2C):c.468+7A>G
|
|
|
NM_032193.4(RNASEH2C):c.468+8G>A
|
rs751767695
|
|
NM_032193.4(RNASEH2C):c.468+8G>C
|
rs751767695
|
|
NM_032193.4(RNASEH2C):c.469-11T>G
|
|
|
NM_032193.4(RNASEH2C):c.469-12C>A
|
rs764404552
|
|
NM_032193.4(RNASEH2C):c.469-12C>G
|
rs764404552
|
|
NM_032193.4(RNASEH2C):c.469-14G>T
|
|
|
NM_032193.4(RNASEH2C):c.469-14_469-9del
|
|
|
NM_032193.4(RNASEH2C):c.469-15C>T
|
|
|
NM_032193.4(RNASEH2C):c.469-17G>A
|
|
|
NM_032193.4(RNASEH2C):c.469-19G>A
|
rs2135651382
|
|
NM_032193.4(RNASEH2C):c.469-7G>T
|
rs1857335838
|
|
NM_032193.4(RNASEH2C):c.469-9C>G
|
|
|
NM_032193.4(RNASEH2C):c.469-9C>T
|
|
|
NM_032193.4(RNASEH2C):c.46T>C (p.Leu16=)
|
rs2135654441
|
|
NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)
|
|
|
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
|
|
|
NM_032193.4(RNASEH2C):c.474C>T (p.His158=)
|
|
|
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
|
|
|
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala)
|
rs2135651271
|
|
NM_032193.4(RNASEH2C):c.483G>A (p.Val161=)
|
|
|
NM_032193.4(RNASEH2C):c.486C>T (p.Pro162=)
|
|
|
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val)
|
rs771823743
|
|
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys)
|
rs749473518
|
|
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser)
|
rs1857362640
|
|
NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)
|
|
|
NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)
|
|
|
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)
|
|
|
NM_032193.4(RNASEH2C):c.60A>G (p.Thr20=)
|
|
|
NM_032193.4(RNASEH2C):c.66C>T (p.Arg22=)
|
rs2135654352
|
|
NM_032193.4(RNASEH2C):c.6G>A (p.Glu2=)
|
|
|
NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser)
|
rs2135654326
|
|
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
|
|
|
NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=)
|
|
|
NM_032193.4(RNASEH2C):c.75A>G (p.Val25=)
|
|
|
NM_032193.4(RNASEH2C):c.78C>G (p.Pro26=)
|
|
|
NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)
|
|
|
NM_032193.4(RNASEH2C):c.85C>T (p.Leu29=)
|
rs781290873
|
|
NM_032193.4(RNASEH2C):c.94C>T (p.Leu32=)
|
|
|
NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)
|
|
|
NM_032193.4(RNASEH2C):c.9C>T (p.Ser3=)
|
|
|
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
|
|
|
NM_033629.6(TREX1):c.102G>A (p.Leu34=)
|
|
|
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
|
|
|
NM_033629.6(TREX1):c.113C>T (p.Ala38Val)
|
rs2040326850
|
|
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
|
rs1354160835
|
|
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp)
|
|
|
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr)
|
rs780414238
|
|
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser)
|
rs780414238
|
|
NM_033629.6(TREX1):c.130del (p.Leu44fs)
|
|
|
NM_033629.6(TREX1):c.132G>C (p.Leu44=)
|
rs2107255846
|
|
NM_033629.6(TREX1):c.137dup (p.Ser46fs)
|
rs2107255865
|
|
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr)
|
rs751831423
|
|
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser)
|
|
|
NM_033629.6(TREX1):c.140C>A (p.Pro47His)
|
|
|
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
|
|
|
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser)
|
|
|
NM_033629.6(TREX1):c.142_144del (p.Pro48del)
|
rs748914604
|
|
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg)
|
|
|
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu)
|
rs2040328677
|
|
NM_033629.6(TREX1):c.143_144del (p.Pro48fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.144C>A (p.Pro48=)
|
rs781060789
|
|
NM_033629.6(TREX1):c.144C>G (p.Pro48=)
|
rs781060789
|
|
NM_033629.6(TREX1):c.144C>T (p.Pro48=)
|
rs781060789
|
|
NM_033629.6(TREX1):c.144del (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp)
|
|
|
NM_033629.6(TREX1):c.150_151del (p.Gln51fs)
|
rs770607110
|
|
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro)
|
rs2107256110
|
|
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
|
|
|
NM_033629.6(TREX1):c.153_166del (p.Gln51fs)
|
rs2107256093
|
|
NM_033629.6(TREX1):c.15C>T (p.Ala5=)
|
|
|
NM_033629.6(TREX1):c.165C>T (p.Pro55=)
|
|
|
NM_033629.6(TREX1):c.168A>C (p.Thr56=)
|
rs770441459
|
|
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
|
|
|
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
|
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg)
|
rs777034646
|
|
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu)
|
rs777034646
|
|
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly)
|
|
|
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys)
|
rs532286717
|
|
NM_033629.6(TREX1):c.185G>A (p.Arg62His)
|
rs547752029
|
|
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu)
|
rs547752029
|
|
NM_033629.6(TREX1):c.187G>A (p.Val63Met)
|
|
|
NM_033629.6(TREX1):c.18G>C (p.Leu6=)
|
|
|
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
|
|
|
NM_033629.6(TREX1):c.191T>C (p.Val64Ala)
|
rs763056226
|
|
NM_033629.6(TREX1):c.192A>C (p.Val64=)
|
rs2107256574
|
|
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
|
|
|
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
|
|
|
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro)
|
rs2107256717
|
|
NM_033629.6(TREX1):c.207G>T (p.Leu69=)
|
|
|
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
|
|
|
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
|
|
|
NM_033629.6(TREX1):c.212_213del (p.Val71fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.213G>A (p.Val71=)
|
|
|
NM_033629.6(TREX1):c.216T>A (p.Ala72=)
|
|
|
NM_033629.6(TREX1):c.21C>A (p.Pro7=)
|
|
|
NM_033629.6(TREX1):c.21C>T (p.Pro7=)
|
rs761094995
|
|
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
|
|
|
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
|
|
|
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
|
|
|
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
|
|
|
NM_033629.6(TREX1):c.236_243del (p.Pro79fs)
|
rs1331920811
|
|
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)
|
rs1331920811
|
|
NM_033629.6(TREX1):c.23dup (p.Pro10fs)
|
rs781731683
|
|
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
|
|
|
NM_033629.6(TREX1):c.243_246del (p.Ser82fs)
|
rs2040335386
|
|
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
|
|
|
NM_033629.6(TREX1):c.246C>T (p.Ser82=)
|
|
|
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
|
|
|
NM_033629.6(TREX1):c.249G>A (p.Glu83=)
|
|
|
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser)
|
rs748535974
|
|
NM_033629.6(TREX1):c.258T>C (p.Gly86=)
|
|
|
NM_033629.6(TREX1):c.259C>G (p.Leu87Val)
|
|
|
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro)
|
|
|
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile)
|
|
|
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu)
|
rs2040321005
|
|
NM_033629.6(TREX1):c.271G>C (p.Val91Leu)
|
|
|
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr)
|
|
|
NM_033629.6(TREX1):c.27G>T (p.Gly9=)
|
rs908382062
|
|
NM_033629.6(TREX1):c.284A>C (p.His95Pro)
|
|
|
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala)
|
|
|
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys)
|
|
|
NM_033629.6(TREX1):c.294A>C (p.Gln98His)
|
|
|
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
|
|
|
NM_033629.6(TREX1):c.294dup (p.Cys99fs)
|
rs760594164
|
|
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg)
|
|
|
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs)
|
rs763966000
|
|
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu)
|
|
|
NM_033629.6(TREX1):c.2T>C (p.Met1Thr)
|
rs1179208432
|
|
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu)
|
rs2107257691
|
|
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly)
|
|
|
NM_033629.6(TREX1):c.306C>T (p.Asp102=)
|
|
|
NM_033629.6(TREX1):c.30C>G (p.Pro10=)
|
|
|
NM_033629.6(TREX1):c.30C>T (p.Pro10=)
|
rs560658691
|
|
NM_033629.6(TREX1):c.314C>T (p.Ala105Val)
|
|
|
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser)
|
rs2040342178
|
|
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
|
|
|
NM_033629.6(TREX1):c.321G>A (p.Leu107=)
|
rs771553021
|
|
NM_033629.6(TREX1):c.324C>T (p.Leu108=)
|
|
|
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
|
|
|
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
|
|
|
NM_033629.6(TREX1):c.334C>T (p.Leu112=)
|
|
|
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly)
|
rs759594113
|
|
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
|
|
|
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
|
|
|
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
|
|
|
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg)
|
rs780467272
|
|
NM_033629.6(TREX1):c.360C>T (p.Cys120=)
|
rs1436644080
|
|
NM_033629.6(TREX1):c.365T>C (p.Val122Ala)
|
rs79993407
|
|
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
|
|
|
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)
|
rs77371662
|
|
NM_033629.6(TREX1):c.369A>G (p.Ala123=)
|
|
|
NM_033629.6(TREX1):c.371_381del (p.His124fs)
|
|
|
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser)
|
rs757863487
|
|
NM_033629.6(TREX1):c.375T>C (p.Asn125=)
|
|
|
NM_033629.6(TREX1):c.378T>C (p.Gly126=)
|
|
|
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
|
|
|
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
|
|
|
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)
|
rs781051771
|
|
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)
|
|
|
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)
|
|
|
NM_033629.6(TREX1):c.391T>G (p.Phe131Val)
|
rs1064796645
|
|
NM_033629.6(TREX1):c.393C>T (p.Phe131=)
|
rs749667732
|
|
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs)
|
rs74876396
|
|
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala)
|
rs200510205
|
|
NM_033629.6(TREX1):c.397del (p.Leu133fs)
|
rs78762691
|
|
NM_033629.6(TREX1):c.399dup (p.Leu134fs)
|
rs2107258834
|
|
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)
|
|
|
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu)
|
rs746384382
|
|
NM_033629.6(TREX1):c.405A>G (p.Gln135=)
|
|
|
NM_033629.6(TREX1):c.408A>G (p.Ala136=)
|
|
|
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)
|
|
|
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala)
|
|
|
NM_033629.6(TREX1):c.412C>G (p.Leu138Val)
|
rs2040349486
|
|
NM_033629.6(TREX1):c.419T>C (p.Met140Thr)
|
rs2107259076
|
|
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)
|
|
|
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser)
|
rs2040351031
|
|
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn)
|
rs2040351297
|
|
NM_033629.6(TREX1):c.43_45dup (p.Ile15dup)
|
rs2040322179
|
|
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
|
|
|
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala)
|
|
|
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr)
|
|
|
NM_033629.6(TREX1):c.450C>G (p.Ala150=)
|
|
|
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu)
|
|
|
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
|
|
|
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly)
|
rs776885477
|
|
NM_033629.6(TREX1):c.465C>T (p.Ser155=)
|
|
|
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
|
|
|
NM_033629.6(TREX1):c.467_469dup (p.Ile156dup)
|
rs1272053329
|
|
NM_033629.6(TREX1):c.468C>G (p.Ile156Met)
|
|
|
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala)
|
|
|
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser)
|
rs1210588757
|
|
NM_033629.6(TREX1):c.471T>C (p.Thr157=)
|
|
|
NM_033629.6(TREX1):c.474_475delinsCT (p.Ala158_Leu159=)
|
|
|
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln)
|
|
|
NM_033629.6(TREX1):c.484C>T (p.Leu162=)
|
rs1553820257
|
|
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln)
|
rs143885312
|
|
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro)
|
rs143885312
|
|
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)
|
|
|
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu)
|
rs2040354615
|
|
NM_033629.6(TREX1):c.495A>C (p.Ala165=)
|
|
|
NM_033629.6(TREX1):c.495A>G (p.Ala165=)
|
|
|
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr)
|
rs1177028457
|
|
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser)
|
|
|
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu)
|
|
|
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro)
|
|
|
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys)
|
|
|
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)
|
rs768724007
|
|
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly)
|
rs2107260081
|
|
NM_033629.6(TREX1):c.513del (p.His171fs)
|
|
|
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser)
|
|
|
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
|
|
|
NM_033629.6(TREX1):c.519A>G (p.Pro173=)
|
|
|
NM_033629.6(TREX1):c.51C>T (p.Phe17=)
|
|
|
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
|
|
|
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
|
|
|
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys)
|
|
|
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly)
|
rs2107260408
|
|
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile)
|
rs1464355841
|
|
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
|
rs121908117
|
|
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del)
|
|
|
NM_033629.6(TREX1):c.535C>T (p.Leu179=)
|
rs1575293364
|
|
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro)
|
rs886058625
|
|
NM_033629.6(TREX1):c.540C>T (p.Gly180=)
|
rs2040359280
|
|
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
|
|
|
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
|
|
|
NM_033629.6(TREX1):c.54C>T (p.Asp18=)
|
|
|
NM_033629.6(TREX1):c.554G>A (p.Arg185His)
|
rs767157848
|
|
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
|
|
|
NM_033629.6(TREX1):c.558G>A (p.Leu186=)
|
rs2107261127
|
|
NM_033629.6(TREX1):c.558G>C (p.Leu186=)
|
|
|
NM_033629.6(TREX1):c.55A>C (p.Met19Leu)
|
rs2107255139
|
|
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
|
|
|
NM_033629.6(TREX1):c.55dup (p.Met19fs)
|
|
|
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
|
|
|
NM_033629.6(TREX1):c.56T>C (p.Met19Thr)
|
|
|
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser)
|
|
|
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly)
|
rs1575293494
|
|
NM_033629.6(TREX1):c.581del (p.Ser194fs)
|
rs1575293518
|
|
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)
|
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_033629.6(TREX1):c.591T>C (p.Ala197=)
|
|
|
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)
|
rs1416519719
|
|
NM_033629.6(TREX1):c.594G>A (p.Glu198=)
|
rs2040363169
|
|
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)
|
rs78846775
|
|
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
|
rs74556809
|
|
NM_033629.6(TREX1):c.5del (p.Gly2fs)
|
rs2107254550
|
|
NM_033629.6(TREX1):c.600T>C (p.Asp200=)
|
|
|
NM_033629.6(TREX1):c.602T>A (p.Val201Asp)
|
rs78408272
|
|
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr)
|
rs2107261840
|
|
NM_033629.6(TREX1):c.608C>T (p.Ala203Val)
|
rs2107261898
|
|
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup)
|
rs78379807
|
|
NM_033629.6(TREX1):c.60G>A (p.Glu20=)
|
|
|
NM_033629.6(TREX1):c.615C>T (p.Leu205=)
|
|
|
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly)
|
|
|
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn)
|
|
|
NM_033629.6(TREX1):c.621C>G (p.Ile207Met)
|
|
|
NM_033629.6(TREX1):c.621_622del (p.Ile207fs)
|
rs781199890
|
|
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)
|
|
|
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs)
|
rs78948846
|
|
NM_033629.6(TREX1):c.627G>C (p.Gln209His)
|
rs748970378
|
|
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter)
|
rs184953805
|
|
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys)
|
|
|
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser)
|
rs1433877282
|
|
NM_033629.6(TREX1):c.635del (p.Pro212fs)
|
rs756664985
|
|
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
|
|
|
NM_033629.6(TREX1):c.63C>T (p.Ala21=)
|
|
|
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)
|
rs1575293697
|
|
NM_033629.6(TREX1):c.642C>G (p.Ala214=)
|
|
|
NM_033629.6(TREX1):c.645G>A (p.Leu215=)
|
|
|
NM_033629.6(TREX1):c.649C>A (p.Arg217=)
|
|
|
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln)
|
rs775117062
|
|
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
|
|
|
NM_033629.6(TREX1):c.662C>T (p.Ala221Val)
|
|
|
NM_033629.6(TREX1):c.663T>A (p.Ala221=)
|
|
|
NM_033629.6(TREX1):c.663T>G (p.Ala221=)
|
|
|
NM_033629.6(TREX1):c.664C>A (p.His222Asn)
|
|
|
NM_033629.6(TREX1):c.666C>A (p.His222Gln)
|
|
|
NM_033629.6(TREX1):c.666C>G (p.His222Gln)
|
rs1431098691
|
|
NM_033629.6(TREX1):c.666C>T (p.His222=)
|
|
|
NM_033629.6(TREX1):c.670A>C (p.Arg224=)
|
|
|
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu)
|
|
|
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)
|
|
|
NM_033629.6(TREX1):c.678C>T (p.Phe226=)
|
rs139228069
|
|
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
|
|
|
NM_033629.6(TREX1):c.694A>G (p.Met232Val)
|
rs2040371837
|
|
NM_033629.6(TREX1):c.69C>T (p.Gly23=)
|
|
|
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
|
|
|
NM_033629.6(TREX1):c.6C>T (p.Gly2=)
|
|
|
NM_033629.6(TREX1):c.703del (p.Val235fs)
|
|
|
NM_033629.6(TREX1):c.703dup (p.Val235fs)
|
rs1553820434
|
|
NM_033629.6(TREX1):c.704T>G (p.Val235Gly)
|
rs2107263775
|
|
NM_033629.6(TREX1):c.705C>T (p.Val235=)
|
|
|
NM_033629.6(TREX1):c.70T>C (p.Leu24=)
|
|
|
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
|
|
|
NM_033629.6(TREX1):c.720G>A (p.Arg240=)
|
rs72556555
|
|
NM_033629.6(TREX1):c.726G>A (p.Lys242=)
|
|
|
NM_033629.6(TREX1):c.72G>A (p.Leu24=)
|
|
|
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
|
|
|
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg)
|
rs1560113388
|
|
NM_033629.6(TREX1):c.735A>T (p.Pro245=)
|
|
|
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer)
|
|
|
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)
|
|
|
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr)
|
rs112741962
|
|
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile)
|
rs759962919
|
|
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile)
|
rs2040376821
|
|
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)
|
|
|
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile)
|
|
|
NM_033629.6(TREX1):c.753T>G (p.Thr251=)
|
|
|
NM_033629.6(TREX1):c.757C>G (p.His253Asp)
|
rs1236695721
|
|
NM_033629.6(TREX1):c.757C>T (p.His253Tyr)
|
|
|
NM_033629.6(TREX1):c.758A>G (p.His253Arg)
|
|
|
NM_033629.6(TREX1):c.75C>G (p.Pro25=)
|
|
|
NM_033629.6(TREX1):c.760C>A (p.Leu254Met)
|
|
|
NM_033629.6(TREX1):c.760C>T (p.Leu254=)
|
|
|
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
|
|
|
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
|
|
|
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile)
|
rs1447568260
|
|
NM_033629.6(TREX1):c.780_781del (p.Pro262fs)
|
|
|
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)
|
|
|
NM_033629.6(TREX1):c.783T>C (p.Ser261=)
|
|
|
NM_033629.6(TREX1):c.786C>T (p.Pro262=)
|
|
|
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg)
|
|
|
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly)
|
rs2107264871
|
|
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn)
|
|
|
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs)
|
rs2107264951
|
|
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)
|
rs757478752
|
|
NM_033629.6(TREX1):c.798G>A (p.Glu266=)
|
rs745652233
|
|
NM_033629.6(TREX1):c.799dup (p.Ser267fs)
|
rs2107265081
|
|
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del)
|
rs2107255387
|
|
NM_033629.6(TREX1):c.802del (p.Arg268fs)
|
rs2107265153
|
|
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys)
|
|
|
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr)
|
rs2040380664
|
|
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
|
|
|
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp)
|
|
|
NM_033629.6(TREX1):c.806G>T (p.Gly269Val)
|
|
|
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala)
|
|
|
NM_033629.6(TREX1):c.815A>T (p.Asp272Val)
|
|
|
NM_033629.6(TREX1):c.817C>G (p.Leu273Val)
|
rs2040382167
|
|
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe)
|
|
|
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)
|
rs1553820518
|
|
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)
|
|
|
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg)
|
rs1369567808
|
|
NM_033629.6(TREX1):c.849C>T (p.Ser283=)
|
rs776171409
|
|
NM_033629.6(TREX1):c.84G>C (p.Gln28His)
|
|
|
NM_033629.6(TREX1):c.854A>T (p.Glu285Val)
|
rs2040385549
|
|
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu)
|
rs2040386246
|
|
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer)
|
rs2107266070
|
|
NM_033629.6(TREX1):c.858dup (p.Leu287fs)
|
rs2107265977
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_033629.6(TREX1):c.871C>T (p.Leu291=)
|
|
|
NM_033629.6(TREX1):c.873G>A (p.Leu291=)
|
|
|
NM_033629.6(TREX1):c.873G>C (p.Leu291=)
|
|
|
NM_033629.6(TREX1):c.880C>T (p.Leu294=)
|
|
|
NM_033629.6(TREX1):c.889C>T (p.Leu297=)
|
|
|
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu)
|
|
|
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser)
|
|
|
NM_033629.6(TREX1):c.895T>G (p.Leu299Val)
|
|
|
NM_033629.6(TREX1):c.899C>T (p.Ala300Val)
|
rs1553820567
|
|
NM_033629.6(TREX1):c.901G>A (p.Val301Ile)
|
|
|
NM_033629.6(TREX1):c.902dup (p.Ala302fs)
|
|
|
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile)
|
rs765487310
|
|
NM_033629.6(TREX1):c.909A>G (p.Thr303=)
|
|
|
NM_033629.6(TREX1):c.909_910del (p.Leu304fs)
|
rs1315240244
|
|
NM_033629.6(TREX1):c.910C>T (p.Leu304=)
|
|
|
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs)
|
rs778550314
|
|
NM_033629.6(TREX1):c.915T>C (p.Tyr305=)
|
|
|
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg)
|
rs2040391623
|
|
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter)
|
rs2040391623
|
|
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala)
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NM_033629.6(TREX1):c.918A>G (p.Gly306=)
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NM_033629.6(TREX1):c.91G>A (p.Val31Ile)
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rs1057321761
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NM_033629.6(TREX1):c.921A>G (p.Leu307=)
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NM_033629.6(TREX1):c.930C>A (p.Ala310=)
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NM_033629.6(TREX1):c.934C>G (p.Pro312Ala)
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rs1265570241
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NM_033629.6(TREX1):c.939G>A (p.Gly313=)
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rs2040393602
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NM_033629.6(TREX1):c.96G>A (p.Thr32=)
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NM_033629.6(TREX1):c.98A>T (p.Glu33Val)
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NM_080628.3(TLDC2):c.*18-641T>G
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rs886056644
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NM_080628.3(TLDC2):c.*18-647C>G
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rs1990092783
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NM_080628.3(TLDC2):c.*18-812A>G
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rs1990087887
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NM_080628.3(TLDC2):c.*230G>C
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NM_080628.3(TLDC2):c.*231_*234del
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rs2148352274
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NM_080628.3(TLDC2):c.*233GA[3]
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rs774995485
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NM_080628.3(TLDC2):c.*237G>A
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NM_080628.3(TLDC2):c.*238A>T
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rs749714514
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NM_080628.3(TLDC2):c.*244del
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NM_130384.3(ATRIP):c.*1024C>T
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rs2040311705
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NM_130384.3(ATRIP):c.*272del
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rs3135939
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NM_130384.3(ATRIP):c.*576G>T
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rs886058622
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NM_130384.3(ATRIP):c.*732CTGC[4]
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rs371036312
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NM_138425.3(C12orf57):c.-256C>T
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rs139594532
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NM_138425.3(C12orf57):c.-266T>G
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rs782444004
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NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT
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rs1255543147
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NM_138425.3(C12orf57):c.-272G>A
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rs1055698058
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NM_138425.3(C12orf57):c.-277A>G
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rs781842057
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NM_138425.3(C12orf57):c.-279C>G
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rs180837208
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NM_173491.4(LSM11):c.631G>A (p.Gly211Ser)
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rs2113077087
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NR_023317.1(RNU7-1):n.23T>G
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NR_023317.1(RNU7-1):n.28C>T
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rs180837208
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NR_023317.1:n.34_50delins25
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Single allele
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