ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7949
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HGVS dbSNP gnomAD frequency
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_002796.3(PSMB4):c.495-40T>C rs2495391 0.97364
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NM_032193.4(RNASEH2C):c.*1527A>C rs521678 0.88416
NM_198282.4(STING1):c.695A>G (p.His232Arg) rs1131769 0.87015
NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) rs410851 0.79487
NM_006929.5(SKIC2):c.545-19T>C rs419788 0.77931
NM_006929.5(SKIC2):c.640A>C (p.Met214Leu) rs437179 0.77931
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_002796.3(PSMB4):c.75G>A (p.Pro25=) rs7172 0.64309
NM_004371.4(COPA):c.363C>T (p.Asn121=) rs1802778 0.63518
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_198282.4(STING1):c.144G>C (p.Val48=) rs7447927 0.52424
NM_004371.4(COPA):c.2476+11A>G rs3789042 0.45327
NM_014639.4(SKIC3):c.-228+8T>C rs2560277 0.45198
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760 0.44895
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_001282225.2(ADA2):c.159C>T (p.Asn53=) rs362129 0.43592
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_032193.4(RNASEH2C):c.*1917T>C rs535111 0.37725
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797 0.37009
NM_014314.4(RIGI):c.2400A>C (p.Val800=) rs3205166 0.34612
NM_032193.4(RNASEH2C):c.*2036C>T rs3372 0.30708
NM_001111.5(ADAR):c.2682G>A (p.Val894=) rs1127309 0.29372
NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=) rs7289170 0.28593
NM_001282225.2(ADA2):c.1442+11T>C rs58754958 0.28284
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_001282225.2(ADA2):c.1240-5C>G rs3764846 0.27480
NM_014639.4(SKIC3):c.1309C>G (p.Leu437Val) rs17084873 0.23217
NM_014639.4(SKIC3):c.3888G>T (p.Arg1296Ser) rs2303650 0.22528
NM_198282.4(STING1):c.878G>A (p.Arg293Gln) rs7380824 0.20123
NM_198282.4(STING1):c.689G>C (p.Gly230Ala) rs78233829 0.19311
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) rs449643 0.19166
NM_022168.4(IFIH1):c.2616+11T>C rs3747518 0.16097
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) rs4603 0.15159
NM_006929.5(SKIC2):c.1972-42T>C rs492899 0.15070
NM_033629.6(TREX1):c.-68T>C rs3135941 0.13734
NM_198282.4(STING1):c.212G>A (p.Arg71His) rs11554776 0.12831
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12521
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) rs438999 0.11951
NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu) rs17217280 0.10366
NM_014314.4(RIGI):c.2337+11G>A rs45589431 0.10215
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_001611.5(ACP5):c.442G>A (p.Val148Met) rs2305799 0.09611
NM_001611.5(ACP5):c.225C>T (p.Phe75=) rs62638747 0.09420
NM_001611.5(ACP5):c.598G>A (p.Val200Met) rs2229531 0.08684
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_006929.5(SKIC2):c.2659G>A (p.Asp887Asn) rs3911893 0.05545
NM_015474.4(SAMHD1):c.*629C>T rs8124728 0.05345
NM_004371.4(COPA):c.436A>G (p.Thr146Ala) rs57425682 0.04998
NM_148919.4(PSMB8):c.129T>C (p.Ala43=) rs2071542 0.04233
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_032193.4(RNASEH2C):c.*1776C>T rs4645936 0.03991
NM_033629.6(TREX1):c.*37T>C rs3135946 0.03909
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03835
NM_006929.5(SKIC2):c.1200A>G (p.Thr400=) rs2734331 0.03599
NM_001611.5(ACP5):c.855T>C (p.Thr285=) rs77911902 0.03530
NM_004371.4(COPA):c.2353-19C>G rs2887489 0.03292
NM_006397.3(RNASEH2A):c.-16T>C rs1046220 0.03226
NM_006929.4(SKIC2):c.-370C>T rs17201466 0.03192
NM_032193.4(RNASEH2C):c.*2097C>T rs4645934 0.03137
NM_024570.4(RNASEH2B):c.-210G>C rs112702177 0.02962
NM_004371.4(COPA):c.497-20C>T rs41265799 0.02551
NM_004371.4(COPA):c.1741C>T (p.Leu581=) rs79304843 0.02550
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_006929.5(SKIC2):c.1041C>T (p.Ala347=) rs35664695 0.02347
NM_004371.4(COPA):c.1978-20C>T rs10159339 0.02319
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_006929.5(SKIC2):c.2749G>A (p.Val917Met) rs106287 0.02102
NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782 0.01693
NM_004371.4(COPA):c.2319C>T (p.Ser773=) rs74125574 0.01303
NM_006397.3(RNASEH2A):c.*120C>T rs73925216 0.01285
NM_004371.4(COPA):c.1005T>C (p.Tyr335=) rs74125578 0.01267
NM_004371.4(COPA):c.2754+4A>G rs75190422 0.01252
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
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_001330360.2(POLA1):c.4356C>T (p.Tyr1452=) rs11573531 0.00965
NM_032193.4(RNASEH2C):c.*1295T>C rs4645937 0.00847
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_004371.4(COPA):c.2960+13T>G rs3827533 0.00814
NM_148919.4(PSMB8):c.148-18C>T rs147016287 0.00780
NM_198282.4(STING1):c.937G>A (p.Ala313Thr) rs140837017 0.00779
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_148919.4(PSMB8):c.222C>A (p.Thr74=) rs116638337 0.00770
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_148919.4(PSMB8):c.*24G>T rs115441230 0.00724
NM_024570.4(RNASEH2B):c.822+6T>C rs76413207 0.00705
NM_014314.4(RIGI):c.734A>G (p.Asn245Ser) rs141808660 0.00693
NM_024570.4(RNASEH2B):c.-112C>T rs184573722 0.00678
NM_033629.6(TREX1):c.-60C>T rs2279076 0.00673
NM_006929.5(SKIC2):c.279C>G (p.Val93=) rs11541400 0.00655
NM_006929.4(SKIC2):c.-280G>T rs182142262 0.00631
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_004371.4(COPA):c.1076+13T>A rs149521115 0.00611
NM_001611.5(ACP5):c.276C>T (p.Asp92=) rs34375794 0.00599
NM_014314.4(RIGI):c.1737C>T (p.Phe579=) rs116612738 0.00517
NM_014639.4(SKIC3):c.585G>A (p.Lys195=) rs73147944 0.00510
NM_001282225.2(ADA2):c.511C>T (p.Arg171Trp) rs115986203 0.00508
NM_015474.4(SAMHD1):c.*288A>G rs114791229 0.00502
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001282225.2(ADA2):c.660C>T (p.Tyr220=) rs2231487 0.00500
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_001330360.2(POLA1):c.1687-15C>T rs11573348 0.00442
NM_004371.4(COPA):c.2263+7A>G rs116596416 0.00427
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870 0.00424
NM_198282.4(STING1):c.659G>A (p.Arg220His) rs144010323 0.00418
NM_015474.4(SAMHD1):c.*1008C>G rs116489517 0.00406
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His) rs41548013 0.00404
NM_015474.4(SAMHD1):c.*45C>T rs115645414 0.00402
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731 0.00396
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_148919.4(PSMB8):c.483G>A (p.Gln161=) rs41270492 0.00378
NM_006929.5(SKIC2):c.1173G>A (p.Pro391=) rs61761945 0.00370
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_198282.4(STING1):c.376C>A (p.Leu126Ile) rs142609349 0.00363
NM_198282.4(STING1):c.580G>T (p.Val194Leu) rs114834699 0.00363
NM_006929.5(SKIC2):c.2574G>A (p.Val858=) rs139281450 0.00350
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_033629.4(TREX1):c.-515T>C rs148393533 0.00332
NM_148919.4(PSMB8):c.*140G>A rs115433903 0.00327
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001282225.2(ADA2):c.1081+18G>A rs200622282 0.00291
NM_004371.4(COPA):c.994A>G (p.Met332Val) rs115066135 0.00280
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_015932.6(POMP):c.101+9G>A rs116855705 0.00248
NM_015474.4(SAMHD1):c.*240G>A 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_015474.4(SAMHD1):c.*71C>A rs138927042 0.00229
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_148919.4(PSMB8):c.501C>T (p.Leu167=) rs11540143 0.00224
NM_006929.5(SKIC2):c.2203-12A>G rs114974766 0.00222
NM_033629.4(TREX1):c.-127G>C rs577465983 0.00222
NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser) rs138956788 0.00220
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_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 0.00207
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_006929.5(SKIC2):c.2211G>A (p.Pro737=) rs2280773 0.00198
NM_015474.3(SAMHD1):c.-166G>T rs546207604 0.00197
NM_001611.5(ACP5):c.955C>T (p.Leu319=) rs141909893 0.00193
NM_022168.4(IFIH1):c.427C>T (p.Leu143=) rs143902922 0.00192
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met) rs144147284 0.00185
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_001611.5(ACP5):c.390-11C>G rs182019242 0.00183
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_148919.4(PSMB8):c.732C>T (p.Gly244=) rs78909544 0.00175
NM_148919.4(PSMB8):c.192C>T (p.Asn64=) rs79482999 0.00173
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) rs62638748 0.00170
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=) rs142860816 0.00168
NM_024570.4(RNASEH2B):c.*246A>G rs147825612 0.00166
NM_001142279.2(RNASEH2B):c.-399C>G rs553965425 0.00165
NM_004371.4(COPA):c.297G>A (p.Thr99=) rs77097084 0.00163
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_001282225.2(ADA2):c.542+7A>G rs149078840 0.00161
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_198282.4(STING1):c.762G>A (p.Ala254=) rs11554777 0.00153
NM_006397.3(RNASEH2A):c.-49C>T rs375281767 0.00146
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe) rs145496449 0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001111.5(ADAR):c.2079+8G>A rs376867928 0.00139
NM_015474.4(SAMHD1):c.*505T>A 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_014639.4(SKIC3):c.1392C>T (p.Tyr464=) rs142058280 0.00135
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg) rs148648401 0.00135
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_004371.4(COPA):c.3331C>T (p.Leu1111=) rs181135283 0.00133
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_001611.5(ACP5):c.861C>T (p.Asp287=) rs147115345 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_006929.4(SKIC2):c.-249C>G rs546698443 0.00115
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_032193.4(RNASEH2C):c.*1594G>A rs761492773 0.00113
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_032193.4(RNASEH2C):c.*317C>T rs549238084 0.00110
NM_033629.4(TREX1):c.-117C>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_001611.5(ACP5):c.299G>A (p.Arg100His) rs141651325 0.00096
NM_198282.4(STING1):c.947-18C>G rs374086484 0.00095
NM_006929.5(SKIC2):c.*19T>C rs2075702 0.00094
NM_024570.4(RNASEH2B):c.-117C>G rs553446261 0.00094
NM_006929.5(SKIC2):c.384T>C (p.Ala128=) rs3895064 0.00093
NM_006929.5(SKIC2):c.741C>G (p.Cys247Trp) rs149410050 0.00093
NM_006929.5(SKIC2):c.23-14A>T rs145129911 0.00092
NM_198282.4(STING1):c.348C>G (p.Pro116=) rs138994450 0.00092
NM_001282225.2(ADA2):c.783C>T (p.Asp261=) rs150249309 0.00091
NM_004371.4(COPA):c.2483G>A (p.Gly828Glu) rs144241395 0.00090
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_198282.4(STING1):c.33G>A (p.Pro11=) rs149842998 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_148919.4(PSMB8):c.*8G>A rs376750959 0.00074
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
NM_004371.4(COPA):c.2476+20A>G rs368616759 0.00071
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
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_004371.4(COPA):c.2904A>C (p.Thr968=) rs144262564 0.00066
NM_004371.4(COPA):c.763G>A (p.Ala255Thr) rs138359166 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_004371.4(COPA):c.1077-14A>G rs181438899 0.00060
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664 0.00060
NM_006929.5(SKIC2):c.1020T>C (p.Val340=) rs61761944 0.00058
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_001282225.2(ADA2):c.1385T>C (p.Ile462Thr) rs61744537 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_001282225.2(ADA2):c.1386T>C (p.Ile462=) rs373797039 0.00051
NM_024570.4(RNASEH2B):c.-228C>A rs577725827 0.00051
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_006929.5(SKIC2):c.1816C>T (p.Arg606Cys) rs78026291 0.00049
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_001611.5(ACP5):c.805C>T (p.Arg269Trp) rs199986980 0.00048
NM_006397.3(RNASEH2A):c.199+9G>C rs370775997 0.00048
NM_006929.5(SKIC2):c.3252G>A (p.Met1084Ile) rs58092713 0.00048
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys) rs202169550 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_004371.4(COPA):c.192A>G (p.Pro64=) rs143827776 0.00046
NM_198282.4(STING1):c.571C>T (p.Arg191Trp) rs150384595 0.00046
NM_006929.5(SKIC2):c.774A>G (p.Glu258=) rs143738551 0.00045
NM_004371.4(COPA):c.432C>T (p.His144=) rs148703024 0.00044
NM_014639.4(SKIC3):c.4081G>A (p.Ala1361Thr) rs532313388 0.00044
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_148919.4(PSMB8):c.433C>T (p.Arg145Cys) rs116076690 0.00042
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp) rs61738625 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
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_004371.4(COPA):c.3192G>A (p.Leu1064=) rs140803372 0.00039
NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser) rs143227096 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_198282.4(STING1):c.411+14G>A rs201976218 0.00039
NM_198282.4(STING1):c.760-9C>A rs200232916 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.*95T>C rs147220022 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_001282225.2(ADA2):c.882-11del rs768002473 0.00036
NM_001282225.2(ADA2):c.1423C>T (p.Leu475=) rs138076444 0.00034
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_004371.4(COPA):c.2683T>G (p.Ser895Ala) rs139398871 0.00033
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp) rs143115096 0.00032
NM_198282.4(STING1):c.784G>A (p.Ala262Thr) rs140038439 0.00032
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_001282225.2(ADA2):c.689G>A (p.Arg230Gln) rs186116639 0.00029
NM_004371.4(COPA):c.2420A>C (p.Asn807Thr) rs199630217 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_006929.5(SKIC2):c.254C>T (p.Thr85Met) rs146717555 0.00028
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00028
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_004371.4(COPA):c.1443-11A>G rs199916081 0.00026
NM_004371.4(COPA):c.2824-16T>C rs202209650 0.00026
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_015932.6(POMP):c.91C>T (p.Leu31Phe) rs138472024 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_198282.4(STING1):c.289G>A (p.Ala97Thr) rs181566154 0.00025
NM_004371.4(COPA):c.3184G>T (p.Val1062Leu) rs138625189 0.00024
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_004371.4(COPA):c.2822G>A (p.Arg941Gln) rs368690601 0.00023
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg) rs141830680 0.00023
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_001611.5(ACP5):c.30G>T (p.Leu10=) rs139654624 0.00022
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00022
NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu) rs202214985 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_001611.5(ACP5):c.597C>T (p.Tyr199=) rs750930124 0.00020
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_004371.4(COPA):c.2234G>A (p.Arg745His) rs138441444 0.00019
NM_004371.4(COPA):c.2655T>C (p.Asp885=) rs139605934 0.00019
NM_004371.4(COPA):c.399G>A (p.Gly133=) rs142221638 0.00019
NM_006929.5(SKIC2):c.1341C>T (p.His447=) rs771281472 0.00019
NM_006929.5(SKIC2):c.791A>T (p.Glu264Val) rs200318261 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=) rs374488772 0.00019
NM_198282.4(STING1):c.575G>T (p.Gly192Val) rs201096097 0.00019
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001611.5(ACP5):c.601C>T (p.Leu201=) rs568957938 0.00018
NM_004371.4(COPA):c.1667+9A>G rs375429812 0.00018
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr) rs140117667 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_024570.4(RNASEH2B):c.64+8C>T rs957777357 0.00018
NM_032193.4(RNASEH2C):c.*1977C>T rs886048482 0.00018
NM_198282.4(STING1):c.758G>A (p.Arg253Gln) rs148833313 0.00018
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001282225.2(ADA2):c.46C>T (p.Leu16=) rs367610393 0.00017
NM_022168.4(IFIH1):c.1765G>A (p.Ala589Thr) rs150760072 0.00017
NM_032193.4(RNASEH2C):c.*385C>A rs757672652 0.00017
NM_033629.4(TREX1):c.-199A>G rs767364235 0.00017
NM_198282.4(STING1):c.340G>A (p.Gly114Ser) rs189211438 0.00017
NM_198282.4(STING1):c.61G>A (p.Ala21Thr) rs140011636 0.00017
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu) rs140149634 0.00016
NM_001611.5(ACP5):c.316G>A (p.Val106Met) rs148219285 0.00016
NM_004371.4(COPA):c.1667+13T>C rs142399844 0.00016
NM_006397.3(RNASEH2A):c.857G>A (p.Arg286Gln) rs778842661 0.00016
NM_006929.5(SKIC2):c.3159T>C (p.Pro1053=) rs149774440 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.*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_148919.4(PSMB8):c.538-8T>C rs183970725 0.00016
NM_001611.5(ACP5):c.17C>T (p.Ala6Val) rs182776939 0.00015
NM_001611.5(ACP5):c.413G>A (p.Arg138His) rs143362935 0.00015
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_148919.4(PSMB8):c.*6G>C rs371747700 0.00015
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) rs141273371 0.00015
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) rs371969268 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_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) rs116020027 0.00014
NM_001282225.2(ADA2):c.1474A>G (p.Thr492Ala) rs780459163 0.00014
NM_001282225.2(ADA2):c.543C>T (p.Ser181=) rs751859598 0.00014
NM_001611.5(ACP5):c.132G>A (p.Thr44=) rs150582430 0.00014
NM_004371.4(COPA):c.1077-16C>G rs201918201 0.00014
NM_004371.4(COPA):c.2544T>C (p.Asp848=) rs144925259 0.00014
NM_004371.4(COPA):c.3147+16C>T rs576052309 0.00014
NM_006397.3(RNASEH2A):c.200-8C>T rs370810663 0.00014
NM_006929.5(SKIC2):c.3622C>T (p.Arg1208Cys) rs144418335 0.00014
NM_006929.5(SKIC2):c.585C>T (p.Asp195=) rs145042380 0.00014
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser) rs200385766 0.00014
NM_022168.4(IFIH1):c.1407T>C (p.Asn469=) rs138740030 0.00014
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) rs114636648 0.00014
NM_001111.5(ADAR):c.1934+8C>T rs376025865 0.00013
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299 0.00013
NM_001282225.2(ADA2):c.147G>A (p.Arg49=) rs146125672 0.00013
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=) rs150514156 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_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_006929.5(SKIC2):c.3430C>T (p.Arg1144Trp) rs146401600 0.00013
NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser) rs376720108 0.00013
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) rs202165710 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_001282225.2(ADA2):c.985G>A (p.Asp329Asn) rs369716341 0.00012
NM_004371.4(COPA):c.155-19T>C rs202155952 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_001282225.2(ADA2):c.1465G>C (p.Glu489Gln) rs45497794 0.00011
NM_001282225.2(ADA2):c.754-15G>A rs376045931 0.00011
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys) rs145265651 0.00011
NM_004371.4(COPA):c.1292G>A (p.Arg431Gln) rs199634303 0.00011
NM_004371.4(COPA):c.2754+15A>G rs369096293 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_006929.4(SKIC2):c.-273G>A rs886061298 0.00011
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_006929.5(SKIC2):c.3070-7T>C rs201101301 0.00011
NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr) rs377348789 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_198282.4(STING1):c.48C>T (p.His16=) rs201271148 0.00011
NM_198282.4(STING1):c.946+12G>A rs371277040 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_001282225.2(ADA2):c.1373T>G (p.Val458Gly) rs748893301 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001611.5(ACP5):c.15G>T (p.Thr5=) rs772911511 0.00010
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg) rs374180791 0.00010
NM_004371.4(COPA):c.2263+5G>A rs369758843 0.00010
NM_006397.3(RNASEH2A):c.128-13C>T rs201345414 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_001282225.2(ADA2):c.1013A>G (p.Lys338Arg) rs573337330 0.00009
NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr) rs373928007 0.00009
NM_001282225.2(ADA2):c.687C>T (p.Phe229=) rs2231488 0.00009
NM_001282225.2(ADA2):c.753G>A (p.Pro251=) rs369924229 0.00009
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser) rs189825826 0.00009
NM_001611.5(ACP5):c.421T>G (p.Phe141Val) rs201716955 0.00009
NM_001611.5(ACP5):c.815G>A (p.Arg272His) rs150107007 0.00009
NM_004371.4(COPA):c.2749A>G (p.Thr917Ala) rs751116790 0.00009
NM_004371.4(COPA):c.778C>T (p.Arg260Cys) rs773636602 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006929.5(SKIC2):c.2662_2663del (p.Arg888fs) rs770099418 0.00009
NM_014639.4(SKIC3):c.4000A>G (p.Thr1334Ala) rs186169356 0.00009
NM_015474.4(SAMHD1):c.*362G>A rs886056646 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_148919.4(PSMB8):c.295+12C>T rs375825728 0.00009
NM_198282.4(STING1):c.142G>T (p.Val48Leu) rs902177158 0.00009
NM_198282.4(STING1):c.929G>A (p.Arg310His) rs144683867 0.00009
NM_001111.5(ADAR):c.2976C>T (p.Phe992=) rs552926126 0.00008
NM_001282225.2(ADA2):c.104C>T (p.Ala35Val) rs151283756 0.00008
NM_001282225.2(ADA2):c.754-5C>T rs530979152 0.00008
NM_001282225.2(ADA2):c.903C>T (p.Ile301=) rs768133814 0.00008
NM_001611.5(ACP5):c.290G>A (p.Arg97His) rs777140546 0.00008
NM_004371.4(COPA):c.1977+12A>G rs377517481 0.00008
NM_004371.4(COPA):c.2566+6A>G rs182598190 0.00008
NM_004371.4(COPA):c.34G>A (p.Val12Ile) rs201864262 0.00008
NM_014639.4(SKIC3):c.642+1G>A rs538894487 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_198282.4(STING1):c.336G>A (p.Ala112=) rs377104086 0.00008
NM_198282.4(STING1):c.510G>C (p.Leu170=) rs200049390 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_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001282225.2(ADA2):c.754-12del rs767647109 0.00007
NM_001611.5(ACP5):c.582G>A (p.Ala194=) rs367699467 0.00007
NM_001611.5(ACP5):c.720C>T (p.His240=) rs374919506 0.00007
NM_001611.5(ACP5):c.80G>A (p.Arg27His) rs376043348 0.00007
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) rs377528244 0.00007
NM_004371.4(COPA):c.1205C>T (p.Ser402Phe) rs200604416 0.00007
NM_004371.4(COPA):c.2575G>T (p.Val859Leu) rs540161688 0.00007
NM_004371.4(COPA):c.497-14T>C rs758856725 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_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys) rs372667206 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_148919.4(PSMB8):c.386G>A (p.Arg129His) rs369078226 0.00007
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln) rs764672057 0.00007
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) rs200995701 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_001282225.2(ADA2):c.1072G>A (p.Gly358Arg) rs45511697 0.00006
NM_001282225.2(ADA2):c.1081+17C>T rs368021522 0.00006
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr) rs189403607 0.00006
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) rs368615054 0.00006
NM_001282225.2(ADA2):c.950C>T (p.Thr317Met) rs146788085 0.00006
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp) rs765756315 0.00006
NM_001611.5(ACP5):c.783G>A (p.Gly261=) rs141519703 0.00006
NM_001611.5(ACP5):c.806G>A (p.Arg269Gln) rs749985898 0.00006
NM_004371.4(COPA):c.1076+8G>A rs758287640 0.00006
NM_004371.4(COPA):c.2015A>T (p.Asn672Ile) rs147312908 0.00006
NM_004371.4(COPA):c.2889C>T (p.Tyr963=) rs201477148 0.00006
NM_004371.4(COPA):c.3195C>T (p.Ser1065=) rs756147600 0.00006
NM_004371.4(COPA):c.3420+16T>G rs370631804 0.00006
NM_004371.4(COPA):c.435C>T (p.Pro145=) rs906358012 0.00006
NM_004371.4(COPA):c.509A>G (p.Lys170Arg) rs750764548 0.00006
NM_004371.4(COPA):c.706+11C>T rs769782129 0.00006
NM_004371.4(COPA):c.753T>C (p.Asn251=) rs374078706 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.79G>C (p.Glu27Gln) rs770044946 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_006929.4(SKIC2):c.-195C>T rs886061301 0.00006
NM_006929.4(SKIC2):c.-22A>T rs755276769 0.00006
NM_006929.5(SKIC2):c.1376A>G (p.Asn459Ser) rs149518958 0.00006
NM_006929.5(SKIC2):c.1404-15C>G rs764954300 0.00006
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_015474.4(SAMHD1):c.*120C>T rs188941712 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_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.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_033629.4(TREX1):c.-287C>T rs377157141 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_148919.4(PSMB8):c.224C>T (p.Thr75Met) rs748082671 0.00006
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu) rs529946385 0.00006
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp) rs754578419 0.00006
NM_198282.4(STING1):c.284G>A (p.Arg95His) rs1033930953 0.00006
NM_198282.4(STING1):c.757C>T (p.Arg253Trp) rs199795457 0.00006
NM_198282.4(STING1):c.760-3T>C rs759930084 0.00006
NM_198282.4(STING1):c.760-4C>G rs549790890 0.00006
NM_198282.4(STING1):c.761C>T (p.Ala254Val) rs774690247 0.00006
NM_198282.4(STING1):c.992G>A (p.Arg331Gln) rs370524913 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_001282225.2(ADA2):c.1044C>T (p.Gly348=) rs760030241 0.00005
NM_001282225.2(ADA2):c.1303C>G (p.Pro435Ala) rs186147069 0.00005
NM_001282225.2(ADA2):c.1522G>A (p.Val508Met) rs767440845 0.00005
NM_001282225.2(ADA2):c.702G>A (p.Glu234=) rs528271447 0.00005
NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) rs750868279 0.00005
NM_001282225.2(ADA2):c.917G>A (p.Arg306Gln) rs768927379 0.00005
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001611.5(ACP5):c.545G>A (p.Arg182His) rs778805198 0.00005
NM_001611.5(ACP5):c.757G>A (p.Val253Met) rs371116310 0.00005
NM_004371.4(COPA):c.1219+16G>A rs372325156 0.00005
NM_004371.4(COPA):c.1388A>G (p.Asn463Ser) rs766188508 0.00005
NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu) rs369330981 0.00005
NM_004371.4(COPA):c.3421-11C>G rs540654667 0.00005
NM_004371.4(COPA):c.3483C>T (p.Asp1161=) rs376400505 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.1747-17dup rs762361576 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_148919.4(PSMB8):c.633G>A (p.Met211Ile) rs137937891 0.00005
NM_198282.4(STING1):c.720C>T (p.Tyr240=) rs766079687 0.00005
NM_198282.4(STING1):c.971C>T (p.Ser324Leu) rs772018436 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_001282225.2(ADA2):c.1033G>A (p.Ala345Thr) rs752798667 0.00004
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001282225.2(ADA2):c.1176C>T (p.Pro392=) rs367563832 0.00004
NM_001282225.2(ADA2):c.1239+9G>A rs752313204 0.00004
NM_001282225.2(ADA2):c.134G>A (p.Arg45Gln) rs571235882 0.00004
NM_001282225.2(ADA2):c.1442+6T>C rs369050563 0.00004
NM_001282225.2(ADA2):c.272A>G (p.His91Arg) rs149466386 0.00004
NM_001282225.2(ADA2):c.435G>C (p.Gln145His) rs752626692 0.00004
NM_001282225.2(ADA2):c.461G>A (p.Arg154His) rs545602214 0.00004
NM_001282225.2(ADA2):c.707A>G (p.Tyr236Cys) rs145966045 0.00004
NM_001282225.2(ADA2):c.708C>T (p.Tyr236=) rs200287863 0.00004
NM_001282225.2(ADA2):c.729G>A (p.Met243Ile) rs151014930 0.00004
NM_001282225.2(ADA2):c.72C>T (p.Phe24=) rs374752508 0.00004
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln) rs201184983 0.00004
NM_001611.5(ACP5):c.166C>T (p.Arg56Trp) rs371591030 0.00004
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln) rs922892618 0.00004
NM_001611.5(ACP5):c.386G>A (p.Arg129His) rs199580546 0.00004
NM_001611.5(ACP5):c.389+15G>T rs562918956 0.00004
NM_001611.5(ACP5):c.636C>T (p.Ala212=) rs368852148 0.00004
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter) rs146436811 0.00004
NM_001611.5(ACP5):c.973C>T (p.Pro325Ser) rs1024960552 0.00004
NM_004371.4(COPA):c.1480G>A (p.Val494Ile) rs750319602 0.00004
NM_004371.4(COPA):c.1714C>T (p.Arg572Trp) rs777038735 0.00004
NM_004371.4(COPA):c.1992A>C (p.Ala664=) rs139463368 0.00004
NM_004371.4(COPA):c.2233C>T (p.Arg745Cys) rs763748181 0.00004
NM_004371.4(COPA):c.264A>G (p.Thr88=) rs751570700 0.00004
NM_004371.4(COPA):c.2754+7G>A rs750013875 0.00004
NM_004371.4(COPA):c.2960+19T>G rs769851527 0.00004
NM_004371.4(COPA):c.2961-7T>C rs758277547 0.00004
NM_004371.4(COPA):c.3423C>T (p.Thr1141=) rs776753399 0.00004
NM_004371.4(COPA):c.387-19T>C rs756312977 0.00004
NM_004371.4(COPA):c.481G>A (p.Val161Ile) rs138387946 0.00004
NM_004371.4(COPA):c.650T>C (p.Met217Thr) rs1346948908 0.00004
NM_004371.4(COPA):c.706+18A>G rs371634008 0.00004
NM_004371.4(COPA):c.783A>G (p.Gln261=) rs748525962 0.00004
NM_004371.4(COPA):c.926-15C>T rs776843863 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_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00004
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg) rs760066036 0.00004
NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg) rs776131482 0.00004
NM_006929.5(SKIC2):c.1694C>T (p.Ala565Val) rs746401418 0.00004
NM_006929.5(SKIC2):c.1890C>T (p.Arg630=) rs779331758 0.00004
NM_006929.5(SKIC2):c.2764C>G (p.Pro922Ala) rs142436411 0.00004
NM_006929.5(SKIC2):c.954C>T (p.Ala318=) rs577271106 0.00004
NM_006929.5(SKIC2):c.990C>T (p.Val330=) rs778024754 0.00004
NM_014314.4(RIGI):c.2596C>T (p.Arg866Ter) rs757554872 0.00004
NM_015474.4(SAMHD1):c.*503A>G rs757372495 0.00004
NM_015474.4(SAMHD1):c.*536C>T rs886056645 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_148919.4(PSMB8):c.229G>A (p.Ala77Thr) rs774341327 0.00004
NM_148919.4(PSMB8):c.384G>A (p.Glu128=) rs547664445 0.00004
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp) rs55835906 0.00004
NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp) rs752232985 0.00004
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp) rs371006338 0.00004
NM_198282.4(STING1):c.1128G>A (p.Thr376=) rs778204471 0.00004
NM_198282.4(STING1):c.32C>T (p.Pro11Leu) rs146423746 0.00004
NM_198282.4(STING1):c.398T>A (p.Leu133His) rs756483516 0.00004
NM_198282.4(STING1):c.520+14T>A rs200511430 0.00004
NM_198282.4(STING1):c.548A>G (p.Asn183Ser) rs201277595 0.00004
NM_198282.4(STING1):c.600T>C (p.Ile200=) rs916516910 0.00004
NM_198282.4(STING1):c.750C>T (p.Asn250=) rs772357103 0.00004
NM_198282.4(STING1):c.783C>T (p.Tyr261=) rs537146631 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_001282225.2(ADA2):c.1278A>G (p.Val426=) rs756045321 0.00003
NM_001282225.2(ADA2):c.1334T>C (p.Met445Thr) rs776544525 0.00003
NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile) rs1265300292 0.00003
NM_001282225.2(ADA2):c.133C>T (p.Arg45Trp) rs777683953 0.00003
NM_001282225.2(ADA2):c.32C>T (p.Ala11Val) rs147655483 0.00003
NM_001282225.2(ADA2):c.555T>C (p.Asn185=) rs758525993 0.00003
NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser) rs766768505 0.00003
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp) rs780116316 0.00003
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn) rs528748445 0.00003
NM_001611.5(ACP5):c.277G>A (p.Val93Ile) rs568576678 0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_001611.5(ACP5):c.495T>C (p.Asp165=) rs757465602 0.00003
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln) rs774878498 0.00003
NM_001611.5(ACP5):c.621C>T (p.Pro207=) rs372107388 0.00003
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln) rs142179752 0.00003
NM_001611.5(ACP5):c.642C>T (p.His214=) rs748235353 0.00003
NM_001611.5(ACP5):c.652C>T (p.His218Tyr) rs148656335 0.00003
NM_001611.5(ACP5):c.714C>T (p.Cys238=) rs199512530 0.00003
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys) rs369579418 0.00003
NM_001611.5(ACP5):c.828C>T (p.Asn276=) rs371003771 0.00003
NM_004371.4(COPA):c.1407G>A (p.Ala469=) rs776931982 0.00003
NM_004371.4(COPA):c.1943G>A (p.Arg648His) rs746774599 0.00003
NM_004371.4(COPA):c.1944C>G (p.Arg648=) rs370936027 0.00003
NM_004371.4(COPA):c.2240G>A (p.Arg747Gln) rs759567454 0.00003
NM_004371.4(COPA):c.2316G>A (p.Glu772=) rs1302833444 0.00003
NM_004371.4(COPA):c.2393C>T (p.Pro798Leu) rs368086805 0.00003
NM_004371.4(COPA):c.2567-13A>G rs770890116 0.00003
NM_004371.4(COPA):c.2712T>C (p.Asp904=) rs375099053 0.00003
NM_004371.4(COPA):c.2823+15C>T rs748443010 0.00003
NM_004371.4(COPA):c.3147+17G>A rs764093655 0.00003
NM_004371.4(COPA):c.3281C>T (p.Ser1094Leu) rs763192047 0.00003
NM_004371.4(COPA):c.3533G>A (p.Arg1178His) rs373521245 0.00003
NM_004371.4(COPA):c.396A>G (p.Thr132=) rs994912702 0.00003
NM_004371.4(COPA):c.820C>A (p.Arg274=) rs764849788 0.00003
NM_004371.4(COPA):c.971C>T (p.Pro324Leu) rs569042047 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.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_006929.4(SKIC2):c.-224G>A rs886061300 0.00003
NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp) rs138507648 0.00003
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_006929.5(SKIC2):c.2566T>C (p.Leu856=) rs774246307 0.00003
NM_006929.5(SKIC2):c.2704G>A (p.Val902Met) rs578239723 0.00003
NM_006929.5(SKIC2):c.3077A>G (p.Lys1026Arg) rs373527237 0.00003
NM_006929.5(SKIC2):c.3540+7A>G rs767834988 0.00003
NM_006929.5(SKIC2):c.3719C>T (p.Ala1240Val) rs774251531 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.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.61T>C (p.Leu21=) rs376140250 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 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_148919.4(PSMB8):c.*231C>T rs539015992 0.00003
NM_148919.4(PSMB8):c.21C>T (p.Cys7=) rs749425717 0.00003
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln) rs780859553 0.00003
NM_148919.4(PSMB8):c.537+8C>T rs767292865 0.00003
NM_198282.4(STING1):c.1000C>T (p.Arg334Trp) rs1197819878 0.00003
NM_198282.4(STING1):c.339C>T (p.Val113=) rs749076471 0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met) rs587777610 0.00003
NM_198282.4(STING1):c.495C>T (p.Ile165=) rs746690249 0.00003
NM_198282.4(STING1):c.503T>C (p.Leu168Pro) rs532530144 0.00003
NM_198282.4(STING1):c.688G>A (p.Gly230Ser) rs370230460 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_001282225.2(ADA2):c.100C>T (p.Arg34Trp) rs750955849 0.00002
NM_001282225.2(ADA2):c.1081+10C>T rs777906358 0.00002
NM_001282225.2(ADA2):c.1082-10G>A rs772238679 0.00002
NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter) rs755007390 0.00002
NM_001282225.2(ADA2):c.1173C>G (p.His391Gln) rs780182069 0.00002
NM_001282225.2(ADA2):c.1203G>A (p.Lys401=) rs960845017 0.00002
NM_001282225.2(ADA2):c.1240-4G>A rs543336918 0.00002
NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala) rs771622323 0.00002
NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys) rs747458336 0.00002
NM_001282225.2(ADA2):c.1443-16C>T rs750495508 0.00002
NM_001282225.2(ADA2):c.205G>A (p.Ala69Thr) rs374965869 0.00002
NM_001282225.2(ADA2):c.25C>T (p.Arg9Trp) rs753994372 0.00002
NM_001282225.2(ADA2):c.282G>C (p.Glu94Asp) rs761776202 0.00002
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) rs370709874 0.00002
NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser) rs747107966 0.00002
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_001282225.2(ADA2):c.354C>T (p.Ile118=) rs548409372 0.00002
NM_001282225.2(ADA2):c.359C>T (p.Thr120Ile) rs755786336 0.00002
NM_001282225.2(ADA2):c.377G>A (p.Arg126Lys) rs765071162 0.00002
NM_001282225.2(ADA2):c.460C>T (p.Arg154Cys) rs200153182 0.00002
NM_001282225.2(ADA2):c.522C>T (p.Asn174=) rs746651975 0.00002
NM_001282225.2(ADA2):c.563T>C (p.Leu188Pro) rs760102576 0.00002
NM_001282225.2(ADA2):c.579G>A (p.Pro193=) rs771793355 0.00002
NM_001282225.2(ADA2):c.587T>C (p.Ile196Thr) rs538708563 0.00002
NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile) rs1446203580 0.00002
NM_001282225.2(ADA2):c.717C>T (p.Asn239=) rs142247490 0.00002
NM_001282225.2(ADA2):c.878A>G (p.His293Arg) rs767494439 0.00002
NM_001282225.2(ADA2):c.881+6A>T rs759682181 0.00002
NM_001282225.2(ADA2):c.935G>A (p.Arg312Gln) rs746970158 0.00002
NM_001282225.2(ADA2):c.940_941del (p.Lys314fs) rs768987774 0.00002
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu) rs563929774 0.00002
NM_001611.5(ACP5):c.261+6T>C rs775396112 0.00002
NM_001611.5(ACP5):c.262-20G>A rs200885075 0.00002
NM_001611.5(ACP5):c.289C>T (p.Arg97Cys) rs1231519014 0.00002
NM_001611.5(ACP5):c.315C>T (p.Tyr105=) rs2229530 0.00002
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu) rs776392911 0.00002
NM_001611.5(ACP5):c.477A>C (p.Thr159=) rs147105591 0.00002
NM_001611.5(ACP5):c.480A>G (p.Leu160=) rs373684791 0.00002
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter) rs1025967277 0.00002
NM_001611.5(ACP5):c.581C>T (p.Ala194Val) rs755385110 0.00002
NM_001611.5(ACP5):c.622G>A (p.Val208Met) rs535257196 0.00002
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser) rs762775321 0.00002
NM_001611.5(ACP5):c.839G>A (p.Arg280His) rs771458690 0.00002
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp) rs913182619 0.00002
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser) rs375523195 0.00002
NM_001611.5(ACP5):c.959C>T (p.Pro320Leu) rs745604493 0.00002
NM_004371.4(COPA):c.1164T>C (p.Asn388=) rs368519186 0.00002
NM_004371.4(COPA):c.1316A>G (p.Asn439Ser) rs150468408 0.00002
NM_004371.4(COPA):c.1406C>T (p.Ala469Val) rs761705607 0.00002
NM_004371.4(COPA):c.1491A>G (p.Ser497=) rs1047288998 0.00002
NM_004371.4(COPA):c.1668-19C>T rs529400709 0.00002
NM_004371.4(COPA):c.1978-19G>A rs770019968 0.00002
NM_004371.4(COPA):c.2211A>G (p.Leu737=) rs756897477 0.00002
NM_004371.4(COPA):c.2263+12A>C rs748204379 0.00002
NM_004371.4(COPA):c.2377A>G (p.Lys793Glu) rs761517421 0.00002
NM_004371.4(COPA):c.2515A>T (p.Thr839Ser) rs745391240 0.00002
NM_004371.4(COPA):c.2519T>C (p.Val840Ala) rs778952692 0.00002
NM_004371.4(COPA):c.2551C>T (p.Leu851=) rs997140060 0.00002
NM_004371.4(COPA):c.2580G>A (p.Glu860=) rs747963957 0.00002
NM_004371.4(COPA):c.2681T>C (p.Ile894Thr) rs575105119 0.00002
NM_004371.4(COPA):c.2690G>A (p.Gly897Glu) rs201089543 0.00002
NM_004371.4(COPA):c.2775G>A (p.Gln925=) rs761577917 0.00002
NM_004371.4(COPA):c.2960+6G>T rs763329682 0.00002
NM_004371.4(COPA):c.3025C>T (p.Arg1009Trp) rs764570410 0.00002
NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys) rs772182530 0.00002
NM_004371.4(COPA):c.331G>A (p.Ala111Thr) rs377473059 0.00002
NM_004371.4(COPA):c.336C>T (p.Ser112=) rs188665868 0.00002
NM_004371.4(COPA):c.3425G>A (p.Arg1142Gln) rs768877876 0.00002
NM_004371.4(COPA):c.3465C>T (p.Ala1155=) rs746436312 0.00002
NM_004371.4(COPA):c.582T>C (p.Asp194=) rs532459630 0.00002
NM_004371.4(COPA):c.603A>G (p.Leu201=) rs773046847 0.00002
NM_004371.4(COPA):c.66T>C (p.Pro22=) rs749278884 0.00002
NM_004371.4(COPA):c.765C>T (p.Ala255=) rs774521461 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_006929.5(SKIC2):c.1145T>A (p.Leu382Gln) rs764335100 0.00002
NM_006929.5(SKIC2):c.2068C>T (p.Arg690Trp) rs751980634 0.00002
NM_006929.5(SKIC2):c.2401A>G (p.Met801Val) rs369020218 0.00002
NM_006929.5(SKIC2):c.2446G>A (p.Glu816Lys) rs746407907 0.00002
NM_006929.5(SKIC2):c.2483G>A (p.Arg828His) rs774644201 0.00002
NM_006929.5(SKIC2):c.380C>T (p.Ser127Leu) rs140350010 0.00002
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
NM_006929.5(SKIC2):c.848G>A (p.Trp283Ter) rs751026211 0.00002
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter) rs373796916 0.00002
NM_014639.4(SKIC3):c.2662C>T (p.Gln888Ter) rs1269943135 0.00002
NM_015474.4(SAMHD1):c.*871G>A rs1030352932 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.831A>T (p.Glu277Asp) rs202019609 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_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00002
NM_033629.6(TREX1):c.-100C>T rs886058623 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_148919.4(PSMB8):c.100A>G (p.Ser34Gly) rs558277593 0.00002
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln) rs758313787 0.00002
NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys) rs779815259 0.00002
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile) rs940695600 0.00002
NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp) rs1402857650 0.00002
NM_148919.4(PSMB8):c.315G>A (p.Lys105=) rs747690980 0.00002
NM_148919.4(PSMB8):c.556G>A (p.Val186Met) rs78945358 0.00002
NM_148919.4(PSMB8):c.600G>A (p.Thr200=) rs777265725 0.00002
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) rs746897143 0.00002
NM_148919.4(PSMB8):c.762T>C (p.Asp254=) rs369525405 0.00002
NM_198282.4(STING1):c.1001G>A (p.Arg334Gln) rs758939417 0.00002
NM_198282.4(STING1):c.1006G>A (p.Glu336Lys) rs1268179693 0.00002
NM_198282.4(STING1):c.1049C>T (p.Ala350Val) rs143322684 0.00002
NM_198282.4(STING1):c.105G>C (p.Gly35=) rs755029181 0.00002
NM_198282.4(STING1):c.1127C>T (p.Thr376Met) rs370381358 0.00002
NM_198282.4(STING1):c.134G>A (p.Arg45Gln) rs762935025 0.00002
NM_198282.4(STING1):c.353C>T (p.Thr118Ile) rs1358836126 0.00002
NM_198282.4(STING1):c.380C>T (p.Ser127Leu) rs149528532 0.00002
NM_198282.4(STING1):c.589C>T (p.Arg197Trp) rs763892914 0.00002
NM_198282.4(STING1):c.637A>C (p.Ser213Arg) rs1342489613 0.00002
NM_198282.4(STING1):c.668A>G (p.Asp223Gly) rs746097569 0.00002
NM_198282.4(STING1):c.726C>T (p.Asn242=) rs371971795 0.00002
NM_198282.4(STING1):c.928C>T (p.Arg310Cys) rs763335050 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_001282225.2(ADA2):c.1007A>G (p.Asp336Gly) rs377213003 0.00001
NM_001282225.2(ADA2):c.101G>A (p.Arg34Gln) rs767960747 0.00001
NM_001282225.2(ADA2):c.102G>A (p.Arg34=) rs113192455 0.00001
NM_001282225.2(ADA2):c.105G>A (p.Ala35=) rs764359666 0.00001
NM_001282225.2(ADA2):c.1068C>T (p.His356=) rs199557749 0.00001
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 0.00001
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001282225.2(ADA2):c.1081+11G>A rs576842036 0.00001
NM_001282225.2(ADA2):c.1082-11C>T rs745689865 0.00001
NM_001282225.2(ADA2):c.1082-4T>G rs748309664 0.00001
NM_001282225.2(ADA2):c.1099A>C (p.Ile367Leu) rs780583418 0.00001
NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn) rs370257828 0.00001
NM_001282225.2(ADA2):c.1100T>C (p.Ile367Thr) rs2061988155 0.00001
NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val) rs375443506 0.00001
NM_001282225.2(ADA2):c.1139C>T (p.Thr380Ile) rs765154508 0.00001
NM_001282225.2(ADA2):c.1146C>T (p.Ile382=) rs776302859 0.00001
NM_001282225.2(ADA2):c.1155A>T (p.Gly385=) rs762051665 0.00001
NM_001282225.2(ADA2):c.1172A>G (p.His391Arg) rs749413678 0.00001
NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu) rs1168801973 0.00001
NM_001282225.2(ADA2):c.1240-14C>G rs746394863 0.00001
NM_001282225.2(ADA2):c.1240-6G>A rs781688965 0.00001
NM_001282225.2(ADA2):c.1299G>A (p.Gly433=) rs370907740 0.00001
NM_001282225.2(ADA2):c.1302C>T (p.His434=) rs1036121313 0.00001
NM_001282225.2(ADA2):c.1307T>C (p.Met436Thr) rs775742013 0.00001
NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys) rs747774101 0.00001
NM_001282225.2(ADA2):c.1368T>C (p.Tyr456=) rs778672079 0.00001
NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr) rs369910191 0.00001
NM_001282225.2(ADA2):c.1439T>C (p.Ile480Thr) rs1388757088 0.00001
NM_001282225.2(ADA2):c.1442+20C>G rs1373238085 0.00001
NM_001282225.2(ADA2):c.1443-13C>T rs2061969554 0.00001
NM_001282225.2(ADA2):c.1445A>G (p.Tyr482Cys) rs1460820814 0.00001
NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln) rs535337577 0.00001
NM_001282225.2(ADA2):c.154C>G (p.Leu52Val) rs776351526 0.00001
NM_001282225.2(ADA2):c.278T>C (p.Ile93Thr) rs767399919 0.00001
NM_001282225.2(ADA2):c.2T>C (p.Met1Thr) rs745795188 0.00001
NM_001282225.2(ADA2):c.363G>A (p.Met121Ile) rs756689332 0.00001
NM_001282225.2(ADA2):c.378G>T (p.Arg126Ser) rs1163129294 0.00001
NM_001282225.2(ADA2):c.380A>G (p.Asn127Ser) rs547716532 0.00001
NM_001282225.2(ADA2):c.405C>T (p.His135=) rs1190168074 0.00001
NM_001282225.2(ADA2):c.470A>C (p.Glu157Ala) rs762092127 0.00001
NM_001282225.2(ADA2):c.514G>C (p.Val172Leu) rs1245539035 0.00001
NM_001282225.2(ADA2):c.542+5G>A rs754845225 0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu) rs199567025 0.00001
NM_001282225.2(ADA2):c.614C>T (p.Ser205Leu) rs369306297 0.00001
NM_001282225.2(ADA2):c.615G>A (p.Ser205=) rs373985143 0.00001
NM_001282225.2(ADA2):c.61A>G (p.Met21Val) rs773893396 0.00001
NM_001282225.2(ADA2):c.620T>G (p.Phe207Cys) rs1292778015 0.00001
NM_001282225.2(ADA2):c.641T>C (p.Ile214Thr) rs369510859 0.00001
NM_001282225.2(ADA2):c.647G>T (p.Gly216Val) rs766924184 0.00001
NM_001282225.2(ADA2):c.678C>T (p.Asp226=) rs1337961073 0.00001
NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp) rs777662147 0.00001
NM_001282225.2(ADA2):c.753+7C>T rs762663812 0.00001
NM_001282225.2(ADA2):c.754-8C>T rs1427052554 0.00001
NM_001282225.2(ADA2):c.778C>T (p.His260Tyr) rs778374105 0.00001
NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro) rs777404100 0.00001
NM_001282225.2(ADA2):c.856A>G (p.Ile286Val) rs755614060 0.00001
NM_001282225.2(ADA2):c.864C>A (p.Ile288=) rs1165460424 0.00001
NM_001282225.2(ADA2):c.873G>A (p.Ser291=) rs750384809 0.00001
NM_001282225.2(ADA2):c.88A>G (p.Ile30Val) rs1601462414 0.00001
NM_001282225.2(ADA2):c.998C>A (p.Ser333Tyr) rs1293578507 0.00001
NM_001330360.2(POLA1):c.1193G>A (p.Arg398His) rs915033662 0.00001
NM_001611.5(ACP5):c.14C>T (p.Thr5Met) rs556637113 0.00001
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr) rs529545521 0.00001
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser) rs202233676 0.00001
NM_001611.5(ACP5):c.262-15A>G rs200250079 0.00001
NM_001611.5(ACP5):c.279A>G (p.Val93=) rs1351504233 0.00001
NM_001611.5(ACP5):c.327A>G (p.Gly109=) rs1973176548 0.00001
NM_001611.5(ACP5):c.334G>A (p.Asp112Asn) rs1252610234 0.00001
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter) rs747619825 0.00001
NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter) rs1171155255 0.00001
NM_001611.5(ACP5):c.383A>G (p.Lys128Arg) rs750563102 0.00001
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys) rs767853623 0.00001
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys) rs760044774 0.00001
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala) rs1399049173 0.00001
NM_001611.5(ACP5):c.47C>A (p.Pro16His) rs201047202 0.00001
NM_001611.5(ACP5):c.522G>A (p.Arg174=) rs376767095 0.00001
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp) rs745457954 0.00001
NM_001611.5(ACP5):c.579G>A (p.Ala193=) rs752926629 0.00001
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr) rs770788576 0.00001
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) rs781199182 0.00001
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr) rs1372135711 0.00001
NM_001611.5(ACP5):c.693C>T (p.Tyr231=) rs373030121 0.00001
NM_001611.5(ACP5):c.735+18G>A rs1413963470 0.00001
NM_001611.5(ACP5):c.735+7G>T rs1484884500 0.00001
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) rs761798208 0.00001
NM_001611.5(ACP5):c.756C>T (p.Gly252=) rs139096747 0.00001
NM_001611.5(ACP5):c.758T>C (p.Val253Ala) rs775386822 0.00001
NM_001611.5(ACP5):c.765C>T (p.Tyr255=) rs549955384 0.00001
NM_001611.5(ACP5):c.777G>T (p.Gly259=) rs368442469 0.00001
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670 0.00001
NM_001611.5(ACP5):c.799del (p.Ser267fs) rs1294990891 0.00001
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671 0.00001
NM_001611.5(ACP5):c.832T>C (p.Tyr278His) rs1248410622 0.00001
NM_001611.5(ACP5):c.854C>T (p.Thr285Ile) rs1369048725 0.00001
NM_001611.5(ACP5):c.91G>A (p.Val31Met) rs765947561 0.00001
NM_004371.4(COPA):c.1054G>A (p.Val352Ile) rs765356400 0.00001
NM_004371.4(COPA):c.1072C>T (p.Arg358Trp) rs1465029263 0.00001
NM_004371.4(COPA):c.1076+7C>T rs761055069 0.00001
NM_004371.4(COPA):c.1100A>G (p.Asn367Ser) rs764624600 0.00001
NM_004371.4(COPA):c.1146A>G (p.Arg382=) rs1422572454 0.00001
NM_004371.4(COPA):c.1220-16G>C rs1658818899 0.00001
NM_004371.4(COPA):c.1220C>T (p.Ala407Val) rs559332322 0.00001
NM_004371.4(COPA):c.1301C>T (p.Ser434Leu) rs769707936 0.00001
NM_004371.4(COPA):c.1302+10G>A rs899725019 0.00001
NM_004371.4(COPA):c.1322A>G (p.Lys441Arg) rs755754729 0.00001
NM_004371.4(COPA):c.1357T>C (p.Cys453Arg) rs1471394621 0.00001
NM_004371.4(COPA):c.1396C>T (p.Leu466Phe) rs1658787005 0.00001
NM_004371.4(COPA):c.1400G>A (p.Arg467Gln) rs773125884 0.00001
NM_004371.4(COPA):c.1443-5C>T rs1293350299 0.00001
NM_004371.4(COPA):c.1527C>T (p.His509=) rs772265510 0.00001
NM_004371.4(COPA):c.154+6A>G rs763734496 0.00001
NM_004371.4(COPA):c.1586G>A (p.Arg529His) rs755234198 0.00001
NM_004371.4(COPA):c.1618G>A (p.Val540Ile) rs779383710 0.00001
NM_004371.4(COPA):c.1657G>A (p.Val553Ile) rs76641602 0.00001
NM_004371.4(COPA):c.1680C>T (p.Ile560=) rs1319923647 0.00001
NM_004371.4(COPA):c.1708G>A (p.Val570Ile) rs1162410358 0.00001
NM_004371.4(COPA):c.1723G>A (p.Gly575Ser) rs1658515221 0.00001
NM_004371.4(COPA):c.1757G>A (p.Arg586His) rs145861956 0.00001
NM_004371.4(COPA):c.1873A>G (p.Ile625Val) rs539596065 0.00001
NM_004371.4(COPA):c.1938A>G (p.Lys646=) rs776498850 0.00001
NM_004371.4(COPA):c.1942C>T (p.Arg648Cys) rs1049665620 0.00001
NM_004371.4(COPA):c.198C>T (p.Phe66=) rs1483173224 0.00001
NM_004371.4(COPA):c.2086C>T (p.Arg696Cys) rs1658458280 0.00001
NM_004371.4(COPA):c.2150G>A (p.Arg717His) rs1051839166 0.00001
NM_004371.4(COPA):c.2263+11G>A rs770169162 0.00001
NM_004371.4(COPA):c.2273C>G (p.Ala758Gly) rs941514851 0.00001
NM_004371.4(COPA):c.228+10G>T rs541883856 0.00001
NM_004371.4(COPA):c.228+18T>G rs1431145451 0.00001
NM_004371.4(COPA):c.229-13T>C rs1001294693 0.00001
NM_004371.4(COPA):c.2367C>A (p.Asp789Glu) rs765186480 0.00001
NM_004371.4(COPA):c.2373T>G (p.Asn791Lys) rs1214197748 0.00001
NM_004371.4(COPA):c.2379G>C (p.Lys793Asn) rs145664652 0.00001
NM_004371.4(COPA):c.2493G>A (p.Leu831=) rs1279004438 0.00001
NM_004371.4(COPA):c.2503A>G (p.Ile835Val) rs775283020 0.00001
NM_004371.4(COPA):c.251G>A (p.Arg84His) rs1252870201 0.00001
NM_004371.4(COPA):c.2557T>C (p.Leu853=) rs755004879 0.00001
NM_004371.4(COPA):c.2566+11T>C rs370504756 0.00001
NM_004371.4(COPA):c.2725C>T (p.Pro909Ser) rs764620128 0.00001
NM_004371.4(COPA):c.2791A>G (p.Ile931Val) rs372660936 0.00001
NM_004371.4(COPA):c.2808C>T (p.Phe936=) rs760354732 0.00001
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys) rs552778606 0.00001
NM_004371.4(COPA):c.2824-10T>C rs368409747 0.00001
NM_004371.4(COPA):c.2890G>A (p.Ala964Thr) rs781560092 0.00001
NM_004371.4(COPA):c.2961-15C>T rs751391110 0.00001
NM_004371.4(COPA):c.296C>T (p.Thr99Met) rs765391058 0.00001
NM_004371.4(COPA):c.2993C>T (p.Ala998Val) rs761919408 0.00001
NM_004371.4(COPA):c.3026G>A (p.Arg1009Gln) rs761236399 0.00001
NM_004371.4(COPA):c.309+14G>T rs776134249 0.00001
NM_004371.4(COPA):c.312A>G (p.Glu104=) rs757452633 0.00001
NM_004371.4(COPA):c.3140T>C (p.Ile1047Thr) rs780158500 0.00001
NM_004371.4(COPA):c.3147+14G>C rs374900234 0.00001
NM_004371.4(COPA):c.3258+4A>G rs1235530043 0.00001
NM_004371.4(COPA):c.3332T>G (p.Leu1111Arg) rs759108773 0.00001
NM_004371.4(COPA):c.3377G>A (p.Arg1126Gln) rs149398610 0.00001
NM_004371.4(COPA):c.3380G>A (p.Arg1127His) rs776528615 0.00001
NM_004371.4(COPA):c.3396G>T (p.Gly1132=) rs1557859300 0.00001
NM_004371.4(COPA):c.3420+9A>C rs1386437476 0.00001
NM_004371.4(COPA):c.3433C>T (p.Leu1145=) rs747075563 0.00001
NM_004371.4(COPA):c.3484A>G (p.Met1162Val) rs1243134474 0.00001
NM_004371.4(COPA):c.3521G>A (p.Arg1174Gln) rs772329332 0.00001
NM_004371.4(COPA):c.3650G>A (p.Arg1217Lys) rs1322429024 0.00001
NM_004371.4(COPA):c.386+20G>A rs774834775 0.00001
NM_004371.4(COPA):c.473C>G (p.Thr158Ser) rs371954050 0.00001
NM_004371.4(COPA):c.528G>A (p.Ala176=) rs760365945 0.00001
NM_004371.4(COPA):c.529G>T (p.Val177Leu) rs752416801 0.00001
NM_004371.4(COPA):c.567A>G (p.Leu189=) rs1380264793 0.00001
NM_004371.4(COPA):c.612C>T (p.His204=) rs988192269 0.00001
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993 0.00001
NM_004371.4(COPA):c.6A>G (p.Leu2=) rs945664160 0.00001
NM_004371.4(COPA):c.717A>T (p.Ala239=) rs751279338 0.00001
NM_004371.4(COPA):c.779G>A (p.Arg260His) rs1381216320 0.00001
NM_004371.4(COPA):c.816T>C (p.Ser272=) rs1037485892 0.00001
NM_004371.4(COPA):c.842+16G>C rs1490882090 0.00001
NM_004371.4(COPA):c.858T>C (p.Thr286=) rs545516258 0.00001
NM_004371.4(COPA):c.863G>A (p.Arg288His) rs781647709 0.00001
NM_004371.4(COPA):c.873T>C (p.His291=) rs967404182 0.00001
NM_004371.4(COPA):c.894T>C (p.Ala298=) rs1251965012 0.00001
NM_004371.4(COPA):c.962G>A (p.Arg321Gln) rs145706918 0.00001
NM_004371.4(COPA):c.99C>T (p.Ile33=) rs781526871 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_006929.4(SKIC2):c.-43T>C rs886061303 0.00001
NM_006929.5(SKIC2):c.120G>A (p.Glu40=) rs886061305 0.00001
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys) rs750250320 0.00001
NM_006929.5(SKIC2):c.1927C>T (p.Leu643Phe) rs761742617 0.00001
NM_006929.5(SKIC2):c.1965G>C (p.Leu655=) rs765798583 0.00001
NM_006929.5(SKIC2):c.2165G>A (p.Arg722Gln) rs768031925 0.00001
NM_006929.5(SKIC2):c.2340+13G>A rs777138745 0.00001
NM_006929.5(SKIC2):c.2341-2A>G rs781763471 0.00001
NM_006929.5(SKIC2):c.2464C>G (p.Gln822Glu) rs1244150559 0.00001
NM_006929.5(SKIC2):c.2703C>T (p.Leu901=) rs748012447 0.00001
NM_006929.5(SKIC2):c.3213G>A (p.Ala1071=) rs374744199 0.00001
NM_006929.5(SKIC2):c.3310C>T (p.Arg1104Trp) rs780107431 0.00001
NM_006929.5(SKIC2):c.3409C>T (p.Arg1137Cys) rs553733225 0.00001
NM_006929.5(SKIC2):c.3711C>T (p.Ile1237=) rs565424838 0.00001
NM_006929.5(SKIC2):c.382G>A (p.Ala128Thr) rs1338384643 0.00001
NM_006929.5(SKIC2):c.422C>T (p.Ala141Val) rs146543642 0.00001
NM_006929.5(SKIC2):c.901C>T (p.Pro301Ser) rs565958554 0.00001
NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu) rs267602206 0.00001
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp) rs769075304 0.00001
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly) rs766633696 0.00001
NM_015474.4(SAMHD1):c.*104G>C rs570535296 0.00001
NM_015474.4(SAMHD1):c.*648C>T rs1414917474 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.1293A>T (p.Leu431Phe) rs1356154563 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.401G>A (p.Arg134Gln) rs767413799 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_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_020232.5(PSMG2):c.582-1G>A rs763788988 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.137T>C (p.Ile46Thr) rs1276069749 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.308A>G (p.Lys103Arg) rs767086382 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.299T>C (p.Phe100Ser) rs757909936 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.587C>T (p.Thr196Met) rs754998766 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_144687.4(NLRP12):c.861G>A (p.Glu287=) rs765562062 0.00001
NM_148919.4(PSMB8):c.*178G>A rs886061309 0.00001
NM_148919.4(PSMB8):c.*57C>T rs1371496516 0.00001
NM_148919.4(PSMB8):c.148-17C>G rs1770037473 0.00001
NM_148919.4(PSMB8):c.180C>T (p.Asp60=) rs757858465 0.00001
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg) rs1007524117 0.00001
NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile) rs140150936 0.00001
NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp) rs201142158 0.00001
NM_148919.4(PSMB8):c.296-15T>C rs1224334453 0.00001
NM_148919.4(PSMB8):c.316G>A (p.Val106Met) rs1254158106 0.00001
NM_148919.4(PSMB8):c.351G>A (p.Met117Ile) rs754243092 0.00001
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser) rs767636318 0.00001
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys) rs757343575 0.00001
NM_148919.4(PSMB8):c.393G>A (p.Leu131=) rs1769991379 0.00001
NM_148919.4(PSMB8):c.407+7G>A rs1020393626 0.00001
NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter) rs374929612 0.00001
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln) rs1181818643 0.00001
NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr) rs749800130 0.00001
NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser) rs372030309 0.00001
NM_148919.4(PSMB8):c.492C>T (p.Gly164=) rs369474146 0.00001
NM_148919.4(PSMB8):c.493A>G (p.Met165Val) rs747199589 0.00001
NM_148919.4(PSMB8):c.538-10C>T rs923980627 0.00001
NM_148919.4(PSMB8):c.624C>T (p.Tyr208=) rs200137729 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr) rs767937121 0.00001
NM_148919.4(PSMB8):c.710A>G (p.His237Arg) rs1361855322 0.00001
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr) rs1582602825 0.00001
NM_148919.4(PSMB8):c.756G>A (p.Lys252=) rs200016893 0.00001
NM_198282.4(STING1):c.1003C>A (p.Gln335Lys) rs1254726825 0.00001
NM_198282.4(STING1):c.1054C>T (p.Pro352Ser) rs977753165 0.00001
NM_198282.4(STING1):c.1110G>A (p.Lys370=) rs766506666 0.00001
NM_198282.4(STING1):c.1123C>T (p.Arg375Cys) rs144606267 0.00001
NM_198282.4(STING1):c.161T>C (p.Leu54Pro) rs1292788155 0.00001
NM_198282.4(STING1):c.184G>A (p.Gly62Arg) rs766819764 0.00001
NM_198282.4(STING1):c.211C>A (p.Arg71Ser) rs768649460 0.00001
NM_198282.4(STING1):c.228-5C>T rs1425370273 0.00001
NM_198282.4(STING1):c.233G>A (p.Arg78Gln) rs11554775 0.00001
NM_198282.4(STING1):c.256C>T (p.Arg86Trp) rs867650202 0.00001
NM_198282.4(STING1):c.26C>T (p.Ser9Phe) rs888652949 0.00001
NM_198282.4(STING1):c.281G>A (p.Arg94His) rs780666926 0.00001
NM_198282.4(STING1):c.288G>A (p.Gly96=) rs143115208 0.00001
NM_198282.4(STING1):c.2T>C (p.Met1Thr) rs754838823 0.00001
NM_198282.4(STING1):c.337G>A (p.Val113Ile) rs770875890 0.00001
NM_198282.4(STING1):c.344C>T (p.Pro115Leu) rs769494344 0.00001
NM_198282.4(STING1):c.345G>A (p.Pro115=) rs780783675 0.00001
NM_198282.4(STING1):c.381G>A (p.Ser127=) rs757686770 0.00001
NM_198282.4(STING1):c.40A>C (p.Arg14=) rs761439213 0.00001
NM_198282.4(STING1):c.411+4T>C rs375733291 0.00001
NM_198282.4(STING1):c.418G>A (p.Ala140Thr) rs1370637313 0.00001
NM_198282.4(STING1):c.430A>G (p.Ile144Val) rs755245286 0.00001
NM_198282.4(STING1):c.462C>T (p.Asn154=) rs138074216 0.00001
NM_198282.4(STING1):c.493A>G (p.Ile165Val) rs768359336 0.00001
NM_198282.4(STING1):c.49G>A (p.Gly17Arg) rs759944012 0.00001
NM_198282.4(STING1):c.4C>T (p.Pro2Ser) rs1223377482 0.00001
NM_198282.4(STING1):c.532C>T (p.Arg178Trp) rs1240603758 0.00001
NM_198282.4(STING1):c.539G>A (p.Arg180Gln) rs759123296 0.00001
NM_198282.4(STING1):c.547A>C (p.Asn183His) rs773990834 0.00001
NM_198282.4(STING1):c.572G>A (p.Arg191Gln) rs750561744 0.00001
NM_198282.4(STING1):c.585C>T (p.Ser195=) rs1038007276 0.00001
NM_198282.4(STING1):c.590G>A (p.Arg197Gln) rs760564156 0.00001
NM_198282.4(STING1):c.697G>A (p.Ala233Thr) rs201670175 0.00001
NM_198282.4(STING1):c.709G>T (p.Asp237Tyr) rs1291110297 0.00001
NM_198282.4(STING1):c.751G>A (p.Gly251Arg) rs1409697347 0.00001
NM_198282.4(STING1):c.759+14G>A rs1189084716 0.00001
NM_198282.4(STING1):c.760-13T>C rs1357142936 0.00001
NM_198282.4(STING1):c.763G>A (p.Gly255Ser) rs368419459 0.00001
NM_198282.4(STING1):c.767C>T (p.Thr256Ile) rs769794754 0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) rs750077345 0.00001
NM_198282.4(STING1):c.879G>A (p.Arg293=) rs1302904360 0.00001
NM_198282.4(STING1):c.885T>A (p.Leu295=) rs768075396 0.00001
NM_198282.4(STING1):c.946+1G>T rs375560052 0.00001
NM_198282.4(STING1):c.946+6G>T rs768799195 0.00001
NM_198282.4(STING1):c.975G>A (p.Leu325=) rs1393425615 0.00001
NC_000001.10:g.(?_153782653)_(154580482_?)dup
NC_000001.10:g.(?_154422067)_(154580482_?)del
NC_000001.10:g.(?_154557262)_(154557840_?)dup
NC_000001.10:g.(?_154562640)_(154580482_?)dup
NC_000001.10:g.(?_154569261)_(154571081_?)dup
NC_000001.10:g.(?_158581054)_(162750036_?)dup
NC_000001.10:g.(?_160261105)_(160261739_?)del
NC_000001.10:g.(?_160309679)_(160320060_?)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.(?_163136486)_(163139106_?)del
NC_000002.11:g.(?_163163199)_(163163385_?)del
NC_000002.11:g.(?_163167345)_(163171408_?)del
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.12:g.163410987_163411003del
NC_000005.10:g.(?_139476241)_(139481724_?)dup
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
NC_000005.9:g.(?_136957787)_(138861289_?)del
NC_000005.9:g.(?_138356840)_(138860503_?)dup
NC_000005.9:g.(?_138855826)_(138861309_?)del
NC_000005.9:g.(?_138855846)_(138858113_?)del
NC_000006.11:g.(?_30695893)_(36953949_?)dup
NC_000006.11:g.(?_31926951)_(31937529_?)del
NC_000006.11:g.(?_32796632)_(32808844_?)del
NC_000006.11:g.(?_32802911)_(32808844_?)dup
NC_000006.11:g.(?_32810848)_(32811339_?)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.(51519669_51522122)_(51523642_51528040)del
NC_000013.10:g.(?_51483926)_(51484277_51501542)del
NC_000013.10:g.(?_51484213)_(51484296_?)del
NC_000013.10:g.(?_51484213)_(51528141_?)del
NC_000013.10:g.(?_51484213)_(51530610_?)del
NC_000013.10:g.(?_51501523)_(51530610_?)del
NC_000013.10:g.(?_51503591)_(51530610_?)del
NC_000013.10:g.(?_51528021)_(51530610_?)del
NC_000013.11:g.(?_50953885)_(50956494_?)del
NC_000013.11:g.50929475_50929477del
NC_000019.10:g.(?_11574990)_(11577337_?)dup
NC_000019.9:g.(?_11685805)_(11688152_?)del
NC_000019.9:g.(?_11685825)_(11688132_?)del
NC_000019.9:g.(?_12757434)_(13617038_?)del
NC_000019.9:g.(?_12917488)_(13010355_?)dup
NC_000019.9:g.(?_12920865)_(12921238_?)del
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.(?_35532540)_(35547942_?)del
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.(?_35547747)_(35555675_?)del
NC_000020.10:g.(?_35555565)_(35555675_?)dup
NC_000020.10:g.(?_35555575)_(35559288_?)del
NC_000020.10:g.(?_35559143)_(35559298_?)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)_(35575227_?)del
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.(?_36904137)_(36912572_?)del
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
NC_000020.11:g.36948745_36957728del
NC_000022.10:g.(?_17565962)_(17672720_?)dup
NC_000022.10:g.(?_17565962)_(18570861_?)dup
NC_000022.10:g.(?_17565982)_(20052185_?)del
NC_000022.10:g.(?_17662353)_(17663671_?)dup
NC_000022.10:g.(?_17662373)_(17663671_?)dup
NC_000022.10:g.(?_17662373)_(17672720_?)dup
NC_000022.10:g.(?_17662373)_(17690567_?)dup
NC_000022.10:g.(?_17663474)_(17663671_?)del
NC_000022.10:g.(?_17669209)_(17672720_?)del
NC_000022.10:g.(?_17680419)_(17690587_?)dup
NC_000022.10:g.(?_17684433)_(17690567_?)del
NC_000022.10:g.(?_17684433)_(17690567_?)dup
NC_000022.11:g.(?_17188319)_(17188467_?)del
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
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.1052C>G (p.Pro351Arg)
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.1082A>G (p.Glu361Gly)
NM_001111.5(ADAR):c.1085G>A (p.Arg362Lys) rs2101640193
NM_001111.5(ADAR):c.1086G>A (p.Arg362=)
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.1111A>G (p.Ser371Gly)
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.1133C>T (p.Ala378Val)
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.1159G>A (p.Ala387Thr)
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.1169T>G (p.Leu390Arg)
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.1174T>C (p.Cys392Arg)
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.1187C>T (p.Thr396Ile)
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.1243C>G (p.Pro415Ala)
NM_001111.5(ADAR):c.1246G>A (p.Val416Ile)
NM_001111.5(ADAR):c.1249A>G (p.Ile417Val)
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe) rs1697861504
NM_001111.5(ADAR):c.1259A>G (p.Glu420Gly)
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.1269A>G (p.Gln423=)
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.1333G>C (p.Gly445Arg)
NM_001111.5(ADAR):c.1339G>A (p.Val447Ile)
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.1374C>T (p.Asp458=)
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.1412G>T (p.Gly471Val)
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.1444T>C (p.Phe482Leu)
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.1484A>G (p.Lys495Arg)
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+10del
NM_001111.5(ADAR):c.15+12C>T
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.1512C>T (p.Pro504=)
NM_001111.5(ADAR):c.1514T>A (p.Ile505Asn)
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.1526del (p.Leu508_Leu509insTer)
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.1563C>G (p.Phe521Leu)
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.1592A>G (p.His531Arg)
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.1602-17A>T
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.1602-3A>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.1675C>T (p.Gln559Ter) rs1553212090
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.1758C>T (p.His586=)
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.1781A>G (p.Glu594Gly)
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+16C>G
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.1793del (p.Glu598fs)
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.1827C>G (p.Phe609Leu)
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.18G>A (p.Gly6=)
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.1930C>T (p.Pro644Ser)
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+16C>T
NM_001111.5(ADAR):c.1934+19C>G
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.1935-5G>T
NM_001111.5(ADAR):c.1935-8C>T
NM_001111.5(ADAR):c.1944C>T (p.Tyr648=)
NM_001111.5(ADAR):c.1946G>A (p.Cys649Tyr)
NM_001111.5(ADAR):c.1959A>G (p.Gly653=)
NM_001111.5(ADAR):c.1965A>G (p.Gln655=)
NM_001111.5(ADAR):c.196_207dup (p.Pro69_Gly70insProSerLeuPro)
NM_001111.5(ADAR):c.1973C>A (p.Pro658His)
NM_001111.5(ADAR):c.1974C>T (p.Pro658=)
NM_001111.5(ADAR):c.1977T>C (p.Ser659=) rs1023918495
NM_001111.5(ADAR):c.1979_1980del (p.Val660fs)
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.1994A>G (p.Lys665Arg)
NM_001111.5(ADAR):c.1999G>A (p.Val667Met)
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.2002G>A (p.Ala668Thr)
NM_001111.5(ADAR):c.2018C>A (p.Ala673Glu) rs2101620970
NM_001111.5(ADAR):c.2022G>A (p.Glu674=)
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.2037C>T (p.Ala679=)
NM_001111.5(ADAR):c.2049G>A (p.Glu683=)
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+13C>T
NM_001111.5(ADAR):c.2079+14C>T
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.2121C>G (p.Ser707=)
NM_001111.5(ADAR):c.2122A>C (p.Met708Leu) rs548493468
NM_001111.5(ADAR):c.2122A>G (p.Met708Val)
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.2137G>T (p.Val713Phe)
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.2166C>T (p.Tyr722=)
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.219A>G (p.Pro73=)
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.2244C>T (p.Asp748=)
NM_001111.5(ADAR):c.2245C>T (p.Gln749Ter)
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2250C>A (p.Ser750=)
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+4A>G
NM_001111.5(ADAR):c.2270+6T>G
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.2271-7C>T
NM_001111.5(ADAR):c.227C>T (p.Pro76Leu) rs1181329844
NM_001111.5(ADAR):c.2282A>T (p.Gln761Leu)
NM_001111.5(ADAR):c.2297G>T (p.Gly766Val)
NM_001111.5(ADAR):c.2299C>T (p.Arg767Cys)
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.2352A>G (p.Ala784=)
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.2367C>T (p.Leu789=)
NM_001111.5(ADAR):c.2369G>A (p.Arg790His)
NM_001111.5(ADAR):c.2370T>C (p.Arg790=) rs1200861188
NM_001111.5(ADAR):c.2375T>C (p.Leu792Ser)
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.2396C>G (p.Ala799Gly)
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.2417A>T (p.Glu806Val)
NM_001111.5(ADAR):c.2433A>C (p.Thr811=)
NM_001111.5(ADAR):c.2433A>G (p.Thr811=)
NM_001111.5(ADAR):c.2436G>A (p.Gly812=) rs2101588401
NM_001111.5(ADAR):c.243C>T (p.Ser81=)
NM_001111.5(ADAR):c.244A>G (p.Ser82Gly)
NM_001111.5(ADAR):c.2450G>T (p.Arg817Ile)
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.2497-17G>A
NM_001111.5(ADAR):c.2497-19C>A
NM_001111.5(ADAR):c.2497-3C>T
NM_001111.5(ADAR):c.2501C>G (p.Pro834Arg)
NM_001111.5(ADAR):c.2501C>T (p.Pro834Leu)
NM_001111.5(ADAR):c.2505C>A (p.Leu835=) rs149012931
NM_001111.5(ADAR):c.2505C>G (p.Leu835=)
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.2531T>G (p.Ile844Arg)
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.2617A>G (p.Ile873Val)
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.2632T>G (p.Ser878Ala)
NM_001111.5(ADAR):c.2637G>A (p.Glu879=)
NM_001111.5(ADAR):c.2641A>G (p.Met881Val)
NM_001111.5(ADAR):c.2641_2642delinsTC (p.Met881Ser)
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>G
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.2729A>G (p.His910Arg) rs1571063283
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.2756T>A (p.Phe919Tyr)
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.2763-20A>G
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.2836G>A (p.Gly946Arg)
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.285G>A (p.Arg95=)
NM_001111.5(ADAR):c.2860A>C (p.Thr954Pro)
NM_001111.5(ADAR):c.2862T>A (p.Thr954=) rs1386367431
NM_001111.5(ADAR):c.2863G>C (p.Val955Leu)
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.2877G>C (p.Leu959=)
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.2884A>G (p.Ser962Gly)
NM_001111.5(ADAR):c.2885+13C>G
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.2913C>G (p.Leu971=)
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.2929A>G (p.Ser977Gly)
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.2944G>A (p.Glu982Lys)
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.2986A>G (p.Lys996Glu)
NM_001111.5(ADAR):c.298_299delinsGC (p.Arg100Ala)
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.2999T>G (p.Leu1000Arg)
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+10dup
NM_001111.5(ADAR):c.3019+13T>C
NM_001111.5(ADAR):c.3019+19C>A
NM_001111.5(ADAR):c.3019+19dup
NM_001111.5(ADAR):c.3019+1G>A
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.3020-9C>G
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.3060T>C (p.Pro1020=)
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.3094C>T (p.Arg1032Cys)
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.3100A>G (p.Met1034Val)
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.3107G>C (p.Cys1036Ser)
NM_001111.5(ADAR):c.3108T>C (p.Cys1036=) rs776645530
NM_001111.5(ADAR):c.3112G>T (p.Asp1038Tyr)
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.3121C>T (p.Leu1041=)
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.3148G>A (p.Gly1050Arg)
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+3A>G
NM_001111.5(ADAR):c.3202+6G>A
NM_001111.5(ADAR):c.3202G>A (p.Gly1068Ser)
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>A (p.Gly1074=)
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.3238A>G (p.Ile1080Val)
NM_001111.5(ADAR):c.3243C>T (p.Cys1081=)
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.325C>T (p.Gln109Ter)
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>A (p.Asp1093Glu)
NM_001111.5(ADAR):c.3279T>G (p.Asp1093Glu)
NM_001111.5(ADAR):c.3285A>G (p.Leu1095=)
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+11C>G
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.3316-3T>A
NM_001111.5(ADAR):c.3316-4C>A rs765304172
NM_001111.5(ADAR):c.3316-4dup
NM_001111.5(ADAR):c.3330C>T (p.Ser1110=)
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>A (p.Lys1120=)
NM_001111.5(ADAR):c.3360G>C (p.Lys1120Asn) rs1696677352
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3364A>C (p.Lys1122Gln)
NM_001111.5(ADAR):c.3372A>G (p.Thr1124=)
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.3387T>C (p.Cys1129=)
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.3435T>C (p.Thr1145=)
NM_001111.5(ADAR):c.3443+10C>G
NM_001111.5(ADAR):c.3443+18C>T
NM_001111.5(ADAR):c.3443+19G>T rs200649075
NM_001111.5(ADAR):c.3443+1G>T
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.3444-15C>T
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.344G>A (p.Gly115Asp)
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.3462C>A (p.Ser1154=)
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.3473A>T (p.Lys1158Ile)
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.3520C>T (p.Arg1174Cys)
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.3555C>T (p.Ala1185=)
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>A (p.Asp1191Asn)
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.3661T>C (p.Phe1221Leu)
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.3674C>T (p.Pro1225Leu)
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.392A>G (p.Gln131Arg)
NM_001111.5(ADAR):c.396A>G (p.Glu132=) rs1697933570
NM_001111.5(ADAR):c.396A>T (p.Glu132Asp)
NM_001111.5(ADAR):c.397C>T (p.Leu133=) rs1457956246
NM_001111.5(ADAR):c.39C>T (p.Tyr13=)
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.455A>G (p.Glu152Gly)
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.523G>A (p.Val175Ile)
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.600_646del (p.Ser200_Thr201insTer)
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.624C>G (p.Ser208Arg)
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.646C>T (p.His216Tyr)
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.656G>A (p.Gly219Glu)
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.66C>G (p.His22Gln)
NM_001111.5(ADAR):c.670G>A (p.Asp224Asn)
NM_001111.5(ADAR):c.670G>C (p.Asp224His)
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.695G>C (p.Arg232Thr)
NM_001111.5(ADAR):c.696A>G (p.Arg232=)
NM_001111.5(ADAR):c.699C>G (p.Asn233Lys)
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.701C>T (p.Ser234Phe)
NM_001111.5(ADAR):c.704C>T (p.Thr235Ile)
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>C (p.Ser269Pro)
NM_001111.5(ADAR):c.805T>G (p.Ser269Ala)
NM_001111.5(ADAR):c.809C>T (p.Pro270Leu)
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.857C>T (p.Ala286Val)
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.892G>A (p.Glu298Lys)
NM_001111.5(ADAR):c.894G>A (p.Glu298=)
NM_001111.5(ADAR):c.89C>G (p.Pro30Arg) rs2101645907
NM_001111.5(ADAR):c.8C>T (p.Pro3Leu)
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>A (p.Val310=)
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.975C>G (p.Thr325=)
NM_001111.5(ADAR):c.978G>A (p.Lys326=)
NM_001111.5(ADAR):c.97G>C (p.Gly33Arg)
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_001111.5(ADAR):c.997G>A (p.Val333Met)
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_001282225.2(ADA2):c.-47+2T>C
NM_001282225.2(ADA2):c.1003_1004inv (p.His335Cys)
NM_001282225.2(ADA2):c.1004A>C (p.His335Pro)
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg) rs2231495
NM_001282225.2(ADA2):c.1018G>T (p.Ala340Ser) rs1601430690
NM_001282225.2(ADA2):c.101G>C (p.Arg34Pro)
NM_001282225.2(ADA2):c.1029C>A (p.Ile343=)
NM_001282225.2(ADA2):c.1030C>T (p.Pro344Ser) rs2123633992
NM_001282225.2(ADA2):c.1032C>T (p.Pro344=)
NM_001282225.2(ADA2):c.1033G>C (p.Ala345Pro) rs752798667
NM_001282225.2(ADA2):c.1038G>A (p.Lys346=)
NM_001282225.2(ADA2):c.1040del (p.Asp347fs) rs2062064773
NM_001282225.2(ADA2):c.1053G>A (p.Leu351=) rs2123633731
NM_001282225.2(ADA2):c.1055del (p.Pro352fs)
NM_001282225.2(ADA2):c.1056_1057delinsGA (p.Tyr353Asn)
NM_001282225.2(ADA2):c.1058_1061del (p.Tyr353fs)
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1071C>T (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1081+12G>T
NM_001282225.2(ADA2):c.1081+16G>A
NM_001282225.2(ADA2):c.1081+16G>T rs748240651
NM_001282225.2(ADA2):c.1081+18G>T
NM_001282225.2(ADA2):c.1081+19A>C rs1601430503
NM_001282225.2(ADA2):c.1081+19_1081+20insATCCCGCT rs776009181
NM_001282225.2(ADA2):c.1081+1G>T rs1300843648
NM_001282225.2(ADA2):c.1081+20G>A
NM_001282225.2(ADA2):c.1082-12C>A
NM_001282225.2(ADA2):c.1082-2A>G
NM_001282225.2(ADA2):c.1082-42_1082-16del rs577994684
NM_001282225.2(ADA2):c.1082-69GACCCATCCATCCCCCATGGAAGACCA[3] rs577994684
NM_001282225.2(ADA2):c.1086_1087delinsTT (p.Trp362_Gln363delinsCysTer)
NM_001282225.2(ADA2):c.108T>C (p.His36=) rs1601462363
NM_001282225.2(ADA2):c.1097C>T (p.Ser366Phe) rs2123605324
NM_001282225.2(ADA2):c.1099A>G (p.Ile367Val)
NM_001282225.2(ADA2):c.10G>T (p.Asp4Tyr) rs370257828
NM_001282225.2(ADA2):c.1104C>T (p.Asp368=)
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1110C>T (p.Asn370=) rs1489114116
NM_001282225.2(ADA2):c.1111A>T (p.Ile371Phe) rs2061987911
NM_001282225.2(ADA2):c.111G>C (p.Leu37=)
NM_001282225.2(ADA2):c.1134C>A (p.Asn378Lys) rs763728425
NM_001282225.2(ADA2):c.1135A>G (p.Thr379Ala)
NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup) rs780690814
NM_001282225.2(ADA2):c.1146C>G (p.Ile382Met) rs776302859
NM_001282225.2(ADA2):c.1148G>A (p.Gly383Asp)
NM_001282225.2(ADA2):c.1159G>A (p.Ala387Thr)
NM_001282225.2(ADA2):c.115T>A (p.Leu39Met) rs538213260
NM_001282225.2(ADA2):c.1184G>A (p.Arg395Lys) rs2061986560
NM_001282225.2(ADA2):c.1190A>C (p.Tyr397Ser) rs2061986476
NM_001282225.2(ADA2):c.1196G>A (p.Trp399Ter) rs1568966771
NM_001282225.2(ADA2):c.1201A>T (p.Lys401Ter)
NM_001282225.2(ADA2):c.1209C>T (p.Ile403=)
NM_001282225.2(ADA2):c.1214T>C (p.Ile405Thr) rs757658203
NM_001282225.2(ADA2):c.1218A>G (p.Glu406=)
NM_001282225.2(ADA2):c.1221C>G (p.Val407=) rs1197542042
NM_001282225.2(ADA2):c.1223G>C (p.Cys408Ser)
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.1239+10A>C rs772137894
NM_001282225.2(ADA2):c.1239+19G>A
NM_001282225.2(ADA2):c.1240-15C>T
NM_001282225.2(ADA2):c.1240-16C>T
NM_001282225.2(ADA2):c.1240-4G>T rs543336918
NM_001282225.2(ADA2):c.1240-5C>T
NM_001282225.2(ADA2):c.1240-5_1240-4delinsGA rs2123601838
NM_001282225.2(ADA2):c.1240-8T>C
NM_001282225.2(ADA2):c.1249C>T (p.Leu417=)
NM_001282225.2(ADA2):c.1252G>T (p.Val418Leu)
NM_001282225.2(ADA2):c.1266G>A (p.Arg422=)
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1271A>G (p.His424Arg)
NM_001282225.2(ADA2):c.1276G>A (p.Val426Ile)
NM_001282225.2(ADA2):c.1278dup (p.Ala427fs)
NM_001282225.2(ADA2):c.1303C>T (p.Pro435Ser)
NM_001282225.2(ADA2):c.1303_1319del (p.His434_Pro435insTer)
NM_001282225.2(ADA2):c.1306A>G (p.Met436Val) rs763170250
NM_001282225.2(ADA2):c.1313_1314delinsAG (p.Ile438Lys)
NM_001282225.2(ADA2):c.1317C>T (p.Ser439=)
NM_001282225.2(ADA2):c.1326C>T (p.Asp442=)
NM_001282225.2(ADA2):c.1334T>A (p.Met445Lys)
NM_001282225.2(ADA2):c.133C>G (p.Arg45Gly) rs777683953
NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser) rs1206824905
NM_001282225.2(ADA2):c.1353G>T (p.Leu451Phe) rs2061973897
NM_001282225.2(ADA2):c.1354T>C (p.Ser452Pro) rs2123600965
NM_001282225.2(ADA2):c.1357T>C (p.Tyr453His)
NM_001282225.2(ADA2):c.1358_1359delinsGC (p.Tyr453Cys)
NM_001282225.2(ADA2):c.1360G>A (p.Asp454Asn)
NM_001282225.2(ADA2):c.1362_1370del (p.Asp454_Tyr456del) rs1452477558
NM_001282225.2(ADA2):c.1371G>A (p.Glu457=)
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) rs748893301
NM_001282225.2(ADA2):c.1373T>C (p.Val458Ala) rs748893301
NM_001282225.2(ADA2):c.1378A>G (p.Met460Val)
NM_001282225.2(ADA2):c.1378A>T (p.Met460Leu)
NM_001282225.2(ADA2):c.137_138insC (p.Arg49fs)
NM_001282225.2(ADA2):c.137dup (p.Arg49fs)
NM_001282225.2(ADA2):c.138G>C (p.Leu46=) rs7289141
NM_001282225.2(ADA2):c.138G>T (p.Leu46=) rs7289141
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs) rs754904956
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.141G>A (p.Gly47=) rs764524723
NM_001282225.2(ADA2):c.1423C>A (p.Leu475Met) rs138076444
NM_001282225.2(ADA2):c.1430dup (p.Met477fs) rs2061972270
NM_001282225.2(ADA2):c.1431G>T (p.Met477Ile)
NM_001282225.2(ADA2):c.143G>C (p.Gly48Ala) rs140149634
NM_001282225.2(ADA2):c.143G>T (p.Gly48Val) rs140149634
NM_001282225.2(ADA2):c.1442+11_1442+12inv
NM_001282225.2(ADA2):c.1442+3G>A
NM_001282225.2(ADA2):c.1443-10C>A rs2123599314
NM_001282225.2(ADA2):c.1443-18C>T
NM_001282225.2(ADA2):c.1443-6C>G
NM_001282225.2(ADA2):c.1443-8del rs767628547
NM_001282225.2(ADA2):c.1443G>T (p.Lys481Asn) rs774795047
NM_001282225.2(ADA2):c.1447A>C (p.Ser483Arg)
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282225.2(ADA2):c.144G>A (p.Gly48=)
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.1452C>G (p.Thr484=)
NM_001282225.2(ADA2):c.1453C>T (p.Leu485=)
NM_001282225.2(ADA2):c.1455G>A (p.Leu485=)
NM_001282225.2(ADA2):c.1458G>T (p.Leu486Phe)
NM_001282225.2(ADA2):c.1461G>A (p.Glu487=)
NM_001282225.2(ADA2):c.1462A>T (p.Ser488Cys)
NM_001282225.2(ADA2):c.1471_1472dup (p.Asn491fs)
NM_001282225.2(ADA2):c.1497G>A (p.Lys499=) rs2123598853
NM_001282225.2(ADA2):c.1513A>G (p.Ile505Val)
NM_001282225.2(ADA2):c.151G>C (p.Val51Leu)
NM_001282225.2(ADA2):c.156G>A (p.Leu52=)
NM_001282225.2(ADA2):c.158del (p.Asn53fs) rs2062393838
NM_001282225.2(ADA2):c.168G>A (p.Glu56=)
NM_001282225.2(ADA2):c.171G>A (p.Glu57=)
NM_001282225.2(ADA2):c.171G>C (p.Glu57Asp)
NM_001282225.2(ADA2):c.179A>G (p.Asn60Ser) rs878901507
NM_001282225.2(ADA2):c.186G>T (p.Arg62Ser) rs1555887378
NM_001282225.2(ADA2):c.191T>G (p.Met64Arg)
NM_001282225.2(ADA2):c.195G>A (p.Thr65=)
NM_001282225.2(ADA2):c.204C>T (p.Ile68=) rs1469448141
NM_001282225.2(ADA2):c.226A>G (p.Arg76Gly) rs2123715454
NM_001282225.2(ADA2):c.22G>A (p.Glu8Lys) rs914839065
NM_001282225.2(ADA2):c.235A>T (p.Ile79Leu) rs2123715420
NM_001282225.2(ADA2):c.239del (p.Phe80fs)
NM_001282225.2(ADA2):c.243A>C (p.Pro81=)
NM_001282225.2(ADA2):c.246C>A (p.Pro82=)
NM_001282225.2(ADA2):c.250A>G (p.Met84Val)
NM_001282225.2(ADA2):c.253C>G (p.His85Asp)
NM_001282225.2(ADA2):c.264G>T (p.Gln88His) rs2123715335
NM_001282225.2(ADA2):c.266C>T (p.Ala89Val) rs548766340
NM_001282225.2(ADA2):c.26G>A (p.Arg9Gln) rs766367978
NM_001282225.2(ADA2):c.270G>A (p.Lys90=)
NM_001282225.2(ADA2):c.271del (p.His91fs) rs2062392148
NM_001282225.2(ADA2):c.27G>T (p.Arg9=)
NM_001282225.2(ADA2):c.298A>T (p.Asn100Tyr)
NM_001282225.2(ADA2):c.2T>A (p.Met1Lys) rs745795188
NM_001282225.2(ADA2):c.300T>C (p.Asn100=) rs776766882
NM_001282225.2(ADA2):c.307A>T (p.Arg103Trp) rs1232757006
NM_001282225.2(ADA2):c.309G>A (p.Arg103=) rs2123715191
NM_001282225.2(ADA2):c.313A>G (p.Met105Val)
NM_001282225.2(ADA2):c.317C>G (p.Pro106Arg)
NM_001282225.2(ADA2):c.322+14A>G
NM_001282225.2(ADA2):c.322+15G>A
NM_001282225.2(ADA2):c.322+1G>A
NM_001282225.2(ADA2):c.322+2T>A
NM_001282225.2(ADA2):c.322+9T>A
NM_001282225.2(ADA2):c.323-10C>T rs1375971429
NM_001282225.2(ADA2):c.323-11T>C
NM_001282225.2(ADA2):c.323-13C>T rs2062365658
NM_001282225.2(ADA2):c.323-19A>G
NM_001282225.2(ADA2):c.323-2A>G
NM_001282225.2(ADA2):c.323-8C>T
NM_001282225.2(ADA2):c.324G>A (p.Gly108=)
NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp) rs587777240
NM_001282225.2(ADA2):c.329C>T (p.Ala110Val)
NM_001282225.2(ADA2):c.334C>T (p.His112Tyr) rs773226219
NM_001282225.2(ADA2):c.337C>A (p.Leu113Ile)
NM_001282225.2(ADA2):c.339C>G (p.Leu113=)
NM_001282225.2(ADA2):c.342T>G (p.His114Gln)
NM_001282225.2(ADA2):c.347T>C (p.Ile116Thr) rs2123709522
NM_001282225.2(ADA2):c.352A>C (p.Ile118Leu) rs2062364807
NM_001282225.2(ADA2):c.355G>A (p.Val119Met)
NM_001282225.2(ADA2):c.361A>G (p.Met121Val)
NM_001282225.2(ADA2):c.365A>T (p.Asp122Val)
NM_001282225.2(ADA2):c.368G>A (p.Trp123Ter)
NM_001282225.2(ADA2):c.369G>A (p.Trp123Ter)
NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys) rs772909795
NM_001282225.2(ADA2):c.370C>G (p.Leu124Val)
NM_001282225.2(ADA2):c.370C>T (p.Leu124=) rs2123709418
NM_001282225.2(ADA2):c.379A>C (p.Asn127His)
NM_001282225.2(ADA2):c.390C>T (p.Tyr130=)
NM_001282225.2(ADA2):c.397C>G (p.His133Asp) rs2062363420
NM_001282225.2(ADA2):c.39C>A (p.Cys13Ter)
NM_001282225.2(ADA2):c.3G>A (p.Met1Ile) rs2062397306
NM_001282225.2(ADA2):c.402C>A (p.Cys134Ter)
NM_001282225.2(ADA2):c.404A>C (p.His135Pro)
NM_001282225.2(ADA2):c.410G>A (p.Cys137Tyr)
NM_001282225.2(ADA2):c.410G>C (p.Cys137Ser) rs1019680311
NM_001282225.2(ADA2):c.414C>T (p.Phe138=)
NM_001282225.2(ADA2):c.415A>G (p.Thr139Ala)
NM_001282225.2(ADA2):c.422G>A (p.Arg141Lys) rs756882787
NM_001282225.2(ADA2):c.426G>A (p.Gly142=) rs143138564
NM_001282225.2(ADA2):c.426G>T (p.Gly142=) rs143138564
NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro) rs1437000359
NM_001282225.2(ADA2):c.446C>T (p.Ala149Val)
NM_001282225.2(ADA2):c.452C>T (p.Pro151Leu)
NM_001282225.2(ADA2):c.457C>T (p.Pro153Ser)
NM_001282225.2(ADA2):c.466T>C (p.Ser156Pro)
NM_001282225.2(ADA2):c.476G>A (p.Cys159Tyr) rs774636844
NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp) rs775997344
NM_001282225.2(ADA2):c.537T>C (p.Asp179=)
NM_001282225.2(ADA2):c.542+18A>T rs757607364
NM_001282225.2(ADA2):c.542+3G>A rs2123708613
NM_001282225.2(ADA2):c.542+4A>T
NM_001282225.2(ADA2):c.542+7_542+12del
NM_001282225.2(ADA2):c.543-18A>G
NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro)
NM_001282225.2(ADA2):c.549G>A (p.Leu183=) rs1568984854
NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro) rs752890414
NM_001282225.2(ADA2):c.565G>T (p.Val189Leu)
NM_001282225.2(ADA2):c.570C>A (p.Thr190=)
NM_001282225.2(ADA2):c.57G>A (p.Val19=)
NM_001282225.2(ADA2):c.580G>A (p.Glu194Lys)
NM_001282225.2(ADA2):c.586A>G (p.Ile196Val)
NM_001282225.2(ADA2):c.594A>T (p.Thr198=)
NM_001282225.2(ADA2):c.606T>C (p.Val202=)
NM_001282225.2(ADA2):c.608T>C (p.Val203Ala) rs1340031421
NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys) rs2062319375
NM_001282225.2(ADA2):c.626C>A (p.Thr209Asn) rs781131295
NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile) rs781131295
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del) rs2123699776
NM_001282225.2(ADA2):c.635T>C (p.Phe212Ser) rs1268480139
NM_001282225.2(ADA2):c.640A>G (p.Ile214Val)
NM_001282225.2(ADA2):c.643T>A (p.Ser215Thr)
NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter)
NM_001282225.2(ADA2):c.660C>G (p.Tyr220Ter)
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001282225.2(ADA2):c.662C>T (p.Ala221Val) rs2062318333
NM_001282225.2(ADA2):c.667G>C (p.Val223Leu) rs761537217
NM_001282225.2(ADA2):c.669G>A (p.Val223=)
NM_001282225.2(ADA2):c.672C>A (p.Phe224Leu) rs2062317999
NM_001282225.2(ADA2):c.676G>A (p.Asp226Asn)
NM_001282225.2(ADA2):c.695T>C (p.Met232Thr) rs2123699502
NM_001282225.2(ADA2):c.713A>G (p.Asp238Gly)
NM_001282225.2(ADA2):c.718G>A (p.Val240Met) rs1239054063
NM_001282225.2(ADA2):c.71dup (p.Gly25fs)
NM_001282225.2(ADA2):c.724T>C (p.Tyr242His) rs1391989452
NM_001282225.2(ADA2):c.727A>G (p.Met243Val)
NM_001282225.2(ADA2):c.734_738del (p.Ile245fs)
NM_001282225.2(ADA2):c.735C>G (p.Ile245Met)
NM_001282225.2(ADA2):c.73G>A (p.Gly25Ser)
NM_001282225.2(ADA2):c.73G>T (p.Gly25Cys)
NM_001282225.2(ADA2):c.746T>G (p.Leu249Arg) rs757520466
NM_001282225.2(ADA2):c.753+13C>G
NM_001282225.2(ADA2):c.753+20C>G
NM_001282225.2(ADA2):c.753+20C>T
NM_001282225.2(ADA2):c.753+2T>A
NM_001282225.2(ADA2):c.754-20T>C
NM_001282225.2(ADA2):c.754-2A>G rs2062118599
NM_001282225.2(ADA2):c.754-4C>A rs1208922264
NM_001282225.2(ADA2):c.758A>G (p.Tyr253Cys) rs1465951724
NM_001282225.2(ADA2):c.75C>G (p.Gly25=)
NM_001282225.2(ADA2):c.767G>A (p.Ser256Asn)
NM_001282225.2(ADA2):c.780T>G (p.His260Gln)
NM_001282225.2(ADA2):c.784G>A (p.Glu262Lys) rs551968547
NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser) rs587777242
NM_001282225.2(ADA2):c.794C>G (p.Ser265Ter)
NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr) rs766768505
NM_001282225.2(ADA2):c.811G>A (p.Glu271Lys)
NM_001282225.2(ADA2):c.813A>G (p.Glu271=) rs2123651534
NM_001282225.2(ADA2):c.816A>G (p.Val272=)
NM_001282225.2(ADA2):c.827T>C (p.Phe276Ser) rs2123651469
NM_001282225.2(ADA2):c.834A>G (p.Glu278=) rs2123651432
NM_001282225.2(ADA2):c.837T>G (p.Thr279=) rs2062117386
NM_001282225.2(ADA2):c.850A>C (p.Ile284Leu)
NM_001282225.2(ADA2):c.854G>A (p.Gly285Glu) rs2062117251
NM_001282225.2(ADA2):c.854G>T (p.Gly285Val)
NM_001282225.2(ADA2):c.864C>T (p.Ile288=)
NM_001282225.2(ADA2):c.872C>T (p.Ser291Leu)
NM_001282225.2(ADA2):c.874G>A (p.Asp292Asn) rs2123651243
NM_001282225.2(ADA2):c.87C>T (p.Ser29=)
NM_001282225.2(ADA2):c.881+12T>C
NM_001282225.2(ADA2):c.881+16G>A rs1275331603
NM_001282225.2(ADA2):c.881+1G>A rs2123651193
NM_001282225.2(ADA2):c.881+7G>C rs1601435948
NM_001282225.2(ADA2):c.882-13G>A
NM_001282225.2(ADA2):c.882-13G>C
NM_001282225.2(ADA2):c.882-13G>T
NM_001282225.2(ADA2):c.882-17C>T
NM_001282225.2(ADA2):c.882-18T>G
NM_001282225.2(ADA2):c.882-19T>C
NM_001282225.2(ADA2):c.882-2A>G rs2062095528
NM_001282225.2(ADA2):c.882-3C>G rs2062095551
NM_001282225.2(ADA2):c.882-9_882-6del
NM_001282225.2(ADA2):c.884C>T (p.Ser295Phe)
NM_001282225.2(ADA2):c.898G>C (p.Val300Leu)
NM_001282225.2(ADA2):c.901A>G (p.Ile301Val)
NM_001282225.2(ADA2):c.904G>A (p.Ala302Thr)
NM_001282225.2(ADA2):c.916C>G (p.Arg306Gly) rs774963498
NM_001282225.2(ADA2):c.91G>C (p.Asp31His) rs2123716097
NM_001282225.2(ADA2):c.926T>C (p.Met309Thr)
NM_001282225.2(ADA2):c.935G>C (p.Arg312Pro) rs746970158
NM_001282225.2(ADA2):c.946C>T (p.Pro316Ser)
NM_001282225.2(ADA2):c.948C>T (p.Pro316=) rs1601433341
NM_001282225.2(ADA2):c.951G>A (p.Thr317=)
NM_001282225.2(ADA2):c.961G>A (p.Gly321Arg)
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu) rs865858930
NM_001282225.2(ADA2):c.967G>A (p.Asp323Asn) rs2123643865
NM_001282225.2(ADA2):c.970C>T (p.Leu324=) rs2123643851
NM_001282225.2(ADA2):c.972+10G>T
NM_001282225.2(ADA2):c.972+19A>C
NM_001282225.2(ADA2):c.972+1G>C
NM_001282225.2(ADA2):c.972+6C>A rs764925030
NM_001282225.2(ADA2):c.972+7del rs2123643808
NM_001282225.2(ADA2):c.972+8A>G
NM_001282225.2(ADA2):c.972+9T>C
NM_001282225.2(ADA2):c.973-11C>G
NM_001282225.2(ADA2):c.973-15C>T
NM_001282225.2(ADA2):c.973-18T>C rs2062066388
NM_001282225.2(ADA2):c.973-20_973-16dup
NM_001282225.2(ADA2):c.973-7C>T
NM_001282225.2(ADA2):c.973G>A (p.Val325Met)
NM_001282225.2(ADA2):c.975G>A (p.Val325=)
NM_001282225.2(ADA2):c.976G>A (p.Gly326Arg)
NM_001282225.2(ADA2):c.977G>A (p.Gly326Glu) rs760228190
NM_001282225.2(ADA2):c.980A>C (p.His327Pro)
NM_001282225.2(ADA2):c.980A>G (p.His327Arg)
NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp)
NM_001282225.2(ADA2):c.988A>G (p.Thr330Ala)
NM_001282225.2(ADA2):c.989C>G (p.Thr330Ser) rs2062065746
NM_001282225.2(ADA2):c.98C>T (p.Thr33Ile)
NM_001282225.2(ADA2):c.990T>C (p.Thr330=)
NM_001282225.2(ADA2):c.[1196G>A;1367A>G]
NM_001330360.2(POLA1):c.1393-354A>G rs869312979
NM_001330360.2(POLA1):c.2018G>A (p.Arg673Gln)
NM_001330360.2(POLA1):c.3806G>T (p.Gly1269Val)
NM_001330360.2(POLA1):c.4087A>G (p.Thr1363Ala)
NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp) rs1555973963
NM_001611.5(ACP5):c.109G>A (p.Val37Ile)
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)
NM_001611.5(ACP5):c.132G>C (p.Thr44=)
NM_001611.5(ACP5):c.136del (p.Arg46fs) rs2145093044
NM_001611.5(ACP5):c.13A>G (p.Thr5Ala) rs2145093839
NM_001611.5(ACP5):c.144G>A (p.Met48Ile)
NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)
NM_001611.5(ACP5):c.15G>A (p.Thr5=) rs772911511
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr) rs1599637550
NM_001611.5(ACP5):c.174G>A (p.Val58=)
NM_001611.5(ACP5):c.183G>A (p.Leu61=)
NM_001611.5(ACP5):c.188C>T (p.Ala63Val)
NM_001611.5(ACP5):c.18G>A (p.Ala6=)
NM_001611.5(ACP5):c.191A>G (p.Asp64Gly) rs765370739
NM_001611.5(ACP5):c.1A>G (p.Met1Val) rs2145093934
NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter) rs965741395
NM_001611.5(ACP5):c.237A>G (p.Gln79=)
NM_001611.5(ACP5):c.250_251del (p.Lys84fs)
NM_001611.5(ACP5):c.257del (p.Phe86fs) rs2145092503
NM_001611.5(ACP5):c.259del (p.Gln87fs) rs2145092472
NM_001611.5(ACP5):c.261+13C>T
NM_001611.5(ACP5):c.261+14A>T
NM_001611.5(ACP5):c.262-13_262-12del
NM_001611.5(ACP5):c.262-14T>C rs1973181435
NM_001611.5(ACP5):c.262-15_262-12del
NM_001611.5(ACP5):c.262-19C>A
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001611.5(ACP5):c.266_272del (p.Thr89fs) rs2145091349
NM_001611.5(ACP5):c.28C>T (p.Leu10=)
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)
NM_001611.5(ACP5):c.309C>T (p.Pro103=)
NM_001611.5(ACP5):c.324C>T (p.Ala108=)
NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)
NM_001611.5(ACP5):c.330C>T (p.Asn110=) rs2145090965
NM_001611.5(ACP5):c.331C>T (p.His111Tyr) rs1195620494
NM_001611.5(ACP5):c.332A>G (p.His111Arg)
NM_001611.5(ACP5):c.333T>C (p.His111=)
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe) rs763172932
NM_001611.5(ACP5):c.351C>A (p.Val117=)
NM_001611.5(ACP5):c.351C>T (p.Val117=) rs2145090791
NM_001611.5(ACP5):c.354T>C (p.Ser118=) rs1337015672
NM_001611.5(ACP5):c.359A>G (p.Gln120Arg)
NM_001611.5(ACP5):c.361del (p.Ile121fs) rs749753832
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)
NM_001611.5(ACP5):c.366A>C (p.Ala122=)
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)
NM_001611.5(ACP5):c.381C>T (p.Ser127=) rs2145090669
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)
NM_001611.5(ACP5):c.389+13C>T
NM_001611.5(ACP5):c.389+17C>T
NM_001611.5(ACP5):c.389+9C>T
NM_001611.5(ACP5):c.390-11C>T rs182019242
NM_001611.5(ACP5):c.390-17C>G
NM_001611.5(ACP5):c.390-17C>T
NM_001611.5(ACP5):c.390-20G>A
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg) rs1243676385
NM_001611.5(ACP5):c.39G>A (p.Leu13=)
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu) rs2145089685
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)
NM_001611.5(ACP5):c.417G>A (p.Leu139=) rs2145089622
NM_001611.5(ACP5):c.418C>T (p.His140Tyr) rs2145089608
NM_001611.5(ACP5):c.420C>T (p.His140=) rs1281816540
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)
NM_001611.5(ACP5):c.438C>T (p.Thr146=) rs2145089524
NM_001611.5(ACP5):c.44_65del (p.Leu15fs) rs1973203506
NM_001611.5(ACP5):c.459T>C (p.Phe153=)
NM_001611.5(ACP5):c.461T>G (p.Met154Arg)
NM_001611.5(ACP5):c.46C>A (p.Pro16Thr) rs2145093640
NM_001611.5(ACP5):c.477A>G (p.Thr159=)
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser) rs764197394
NM_001611.5(ACP5):c.510G>A (p.Gln170=)
NM_001611.5(ACP5):c.516T>A (p.Pro172=) rs887425978
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys) rs1973158210
NM_001611.5(ACP5):c.51C>A (p.Ser17=)
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)
NM_001611.5(ACP5):c.526del (p.Arg176fs) rs2145089035
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn) rs766846705
NM_001611.5(ACP5):c.531C>T (p.Asp177=)
NM_001611.5(ACP5):c.532G>A (p.Val178Met)
NM_001611.5(ACP5):c.543C>A (p.Ala181=) rs139822120
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg) rs371719196
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)
NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)
NM_001611.5(ACP5):c.56C>T (p.Ala19Val)
NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu) rs756201795
NM_001611.5(ACP5):c.578C>T (p.Ala193Val)
NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)
NM_001611.5(ACP5):c.585C>G (p.Ala195=) rs766688951
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys) rs1599634603
NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001611.5(ACP5):c.604G>C (p.Val202Leu) rs1188745377
NM_001611.5(ACP5):c.60T>C (p.Asp20=)
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp) rs775336126
NM_001611.5(ACP5):c.612C>A (p.Gly204=)
NM_001611.5(ACP5):c.613C>T (p.His205Tyr)
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr) rs1973150471
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg) rs757630659
NM_001611.5(ACP5):c.622G>C (p.Val208Leu)
NM_001611.5(ACP5):c.622G>T (p.Val208Leu)
NM_001611.5(ACP5):c.625_626del (p.Trp209fs) rs1599634435
NM_001611.5(ACP5):c.627_634delinsCCTACC (p.Trp209fs)
NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)
NM_001611.5(ACP5):c.637G>A (p.Glu213Lys)
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.651C>A (p.Thr217=)
NM_001611.5(ACP5):c.654_658del (p.Cys219fs)
NM_001611.5(ACP5):c.658C>T (p.Leu220=)
NM_001611.5(ACP5):c.660G>C (p.Leu220=) rs1433238601
NM_001611.5(ACP5):c.663C>G (p.Val221=) rs2145088053
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001611.5(ACP5):c.670C>T (p.Leu224=)
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)
NM_001611.5(ACP5):c.678A>C (p.Pro226=) rs1257952148
NM_001611.5(ACP5):c.682C>G (p.Leu228Val) rs142623076
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile) rs939236666
NM_001611.5(ACP5):c.69C>T (p.Thr23=)
NM_001611.5(ACP5):c.702T>G (p.Thr234=)
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg) rs2145087756
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn) rs2145087630
NM_001611.5(ACP5):c.730C>T (p.Leu244=)
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro) rs1453335064
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter) rs1973142593
NM_001611.5(ACP5):c.735+10del
NM_001611.5(ACP5):c.735+12G>C
NM_001611.5(ACP5):c.735+13T>A
NM_001611.5(ACP5):c.735+14G>A
NM_001611.5(ACP5):c.735+15G>A
NM_001611.5(ACP5):c.735+15G>C
NM_001611.5(ACP5):c.735+8C>A
NM_001611.5(ACP5):c.735+8C>T rs781252304
NM_001611.5(ACP5):c.736-13C>T
NM_001611.5(ACP5):c.736-2A>G rs1973089024
NM_001611.5(ACP5):c.736-3C>T rs773090099
NM_001611.5(ACP5):c.736-6C>T
NM_001611.5(ACP5):c.736-7T>A rs766031438
NM_001611.5(ACP5):c.738C>T (p.Tyr246=)
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)
NM_001611.5(ACP5):c.759G>A (p.Val253=)
NM_001611.5(ACP5):c.766G>A (p.Val256Met) rs146196342
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) rs146196342
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001611.5(ACP5):c.775G>A (p.Gly259Arg) rs2145082240
NM_001611.5(ACP5):c.780T>C (p.Ala260=) rs2145082207
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp) rs2145082191
NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn) rs1973084550
NM_001611.5(ACP5):c.807G>A (p.Arg269=)
NM_001611.5(ACP5):c.816dup (p.Lys273fs) rs879255600
NM_001611.5(ACP5):c.822C>G (p.Val274=)
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu) rs1973082559
NM_001611.5(ACP5):c.825C>A (p.Pro275=) rs760569679
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys) rs774428695
NM_001611.5(ACP5):c.846C>G (p.His282Gln) rs749645391
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys) rs931778512
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu) rs1973079948
NM_001611.5(ACP5):c.85G>A (p.Val29Ile) rs1297907616
NM_001611.5(ACP5):c.870T>C (p.Gly290=)
NM_001611.5(ACP5):c.871G>C (p.Gly291Arg) rs752091275
NM_001611.5(ACP5):c.8T>C (p.Met3Thr)
NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)
NM_001611.5(ACP5):c.909T>C (p.Thr303=) rs2145081214
NM_001611.5(ACP5):c.90C>T (p.Ala30=)
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile) rs2145081185
NM_001611.5(ACP5):c.918C>T (p.Tyr306=)
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe) rs1483232010
NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)
NM_001611.5(ACP5):c.921C>G (p.Ile307Met) rs763811862
NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)
NM_001611.5(ACP5):c.930G>A (p.Ser310=)
NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)
NM_001611.5(ACP5):c.954G>A (p.Arg318=)
NM_001611.5(ACP5):c.960G>A (p.Pro320=)
NM_001611.5(ACP5):c.963G>A (p.Arg321=) rs2145080770
NM_001611.5(ACP5):c.964C>G (p.Arg322Gly) rs146436811
NM_001611.5(ACP5):c.965G>A (p.Arg322Gln) rs149133430
NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)
NM_001611.5(ACP5):c.971G>T (p.Arg324Met) rs145265651
NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)
NM_001611.5(ACP5):c.97G>A (p.Asp33Asn) rs2145093288
NM_002788.4(PSMA3):c.404+2T>C rs1555352516
NM_002788.4(PSMA3):c.697_699del (p.Arg233del) rs1555353410
NM_002796.3(PSMB4):c.44dup (p.Pro16fs) rs1235715459
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg) rs777632466
NM_002796.3(PSMB4):c.636_644del (p.Asp212_Val214del) rs1553209362
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter) rs1553209373
NM_002800.5(PSMB9):c.10G>A (p.Ala4Thr)
NM_002800.5(PSMB9):c.179G>A (p.Arg60His) rs17587
NM_002800.5(PSMB9):c.467G>A (p.Gly156Asp) rs2127399518
NM_002801.4(PSMB10):c.247dup (p.Cys83fs)
NM_002801.4(PSMB10):c.40_42del (p.Phe14del)
NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser) rs2058265858
NM_002801.4(PSMB10):c.500G>A (p.Gly167Asp)
NM_002801.4(PSMB10):c.56+1G>A
NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)
NM_002801.4(PSMB10):c.710+1G>C
NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)
NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)
NM_004371.4(COPA):c.1001A>G (p.His334Arg)
NM_004371.4(COPA):c.1001A>T (p.His334Leu)
NM_004371.4(COPA):c.1003T>C (p.Tyr335His)
NM_004371.4(COPA):c.1015C>A (p.Arg339=)
NM_004371.4(COPA):c.1016G>A (p.Arg339Gln)
NM_004371.4(COPA):c.1028A>G (p.Gln343Arg)
NM_004371.4(COPA):c.1030C>T (p.Leu344=)
NM_004371.4(COPA):c.1031T>A (p.Leu344Gln)
NM_004371.4(COPA):c.1040A>G (p.Asn347Ser)
NM_004371.4(COPA):c.1047C>T (p.Ser349=) rs1571163670
NM_004371.4(COPA):c.1070_1072dup (p.Leu357dup) rs1658978401
NM_004371.4(COPA):c.1072C>A (p.Arg358=)
NM_004371.4(COPA):c.1073G>A (p.Arg358Gln) rs769060273
NM_004371.4(COPA):c.1073G>T (p.Arg358Leu)
NM_004371.4(COPA):c.1076+10A>G
NM_004371.4(COPA):c.1076+12T>G
NM_004371.4(COPA):c.1076+17T>G
NM_004371.4(COPA):c.1076+18C>G
NM_004371.4(COPA):c.1076+4A>T
NM_004371.4(COPA):c.1077-12A>G
NM_004371.4(COPA):c.1077-8A>G
NM_004371.4(COPA):c.1079G>A (p.Gly360Asp)
NM_004371.4(COPA):c.1109A>C (p.Tyr370Ser) rs1658920265
NM_004371.4(COPA):c.110A>C (p.Asp37Ala)
NM_004371.4(COPA):c.1128A>T (p.Ala376=)
NM_004371.4(COPA):c.1132C>T (p.Leu378=)
NM_004371.4(COPA):c.1134G>A (p.Leu378=)
NM_004371.4(COPA):c.1134G>C (p.Leu378=)
NM_004371.4(COPA):c.1137T>A (p.Leu379=)
NM_004371.4(COPA):c.1143+10C>A
NM_004371.4(COPA):c.1143+13T>C
NM_004371.4(COPA):c.1144-14C>T
NM_004371.4(COPA):c.1144-16C>G
NM_004371.4(COPA):c.1149T>C (p.Ala383=) rs2101840871
NM_004371.4(COPA):c.115C>A (p.Arg39=)
NM_004371.4(COPA):c.115C>T (p.Arg39Trp)
NM_004371.4(COPA):c.1166G>A (p.Ser389Asn)
NM_004371.4(COPA):c.116G>A (p.Arg39Gln)
NM_004371.4(COPA):c.1172A>G (p.Tyr391Cys)
NM_004371.4(COPA):c.1182C>T (p.Tyr394=)
NM_004371.4(COPA):c.1197T>C (p.Asp399=)
NM_004371.4(COPA):c.1203C>A (p.Asp401Glu)
NM_004371.4(COPA):c.1213C>A (p.Pro405Thr)
NM_004371.4(COPA):c.1219+16G>C rs372325156
NM_004371.4(COPA):c.1219+5G>A
NM_004371.4(COPA):c.1219+7G>C rs926437946
NM_004371.4(COPA):c.1220-17G>C
NM_004371.4(COPA):c.1220-8C>T
NM_004371.4(COPA):c.1221G>A (p.Ala407=)
NM_004371.4(COPA):c.1222C>T (p.Pro408Ser)
NM_004371.4(COPA):c.1230G>A (p.Gly410=)
NM_004371.4(COPA):c.123C>T (p.Cys41=)
NM_004371.4(COPA):c.1245C>A (p.Gly415=)
NM_004371.4(COPA):c.1254C>T (p.Ala418=)
NM_004371.4(COPA):c.1255G>A (p.Val419Ile)
NM_004371.4(COPA):c.1263C>T (p.Val421=)
NM_004371.4(COPA):c.1265C>T (p.Ala422Val) rs1658816918
NM_004371.4(COPA):c.126T>C (p.Thr42=)
NM_004371.4(COPA):c.1270A>G (p.Asn424Asp)
NM_004371.4(COPA):c.1274G>A (p.Arg425Gln)
NM_004371.4(COPA):c.1284C>G (p.Val428=)
NM_004371.4(COPA):c.1291C>T (p.Arg431Trp)
NM_004371.4(COPA):c.1293G>T (p.Arg431=)
NM_004371.4(COPA):c.1302+12C>T rs2101838492
NM_004371.4(COPA):c.1302+13T>C
NM_004371.4(COPA):c.1302G>A (p.Ser434=)
NM_004371.4(COPA):c.1303-12T>C
NM_004371.4(COPA):c.1303-15T>G
NM_004371.4(COPA):c.1303-3C>T rs1658789926
NM_004371.4(COPA):c.1303-6T>C rs746190329
NM_004371.4(COPA):c.1303C>A (p.Leu435Ile) rs1300223116
NM_004371.4(COPA):c.1332C>T (p.Ile444=) rs2101837742
NM_004371.4(COPA):c.1356C>T (p.Asn452=)
NM_004371.4(COPA):c.1363G>A (p.Glu455Lys) rs2101837690
NM_004371.4(COPA):c.1365G>A (p.Glu455=)
NM_004371.4(COPA):c.1367TCT[1] (p.Phe457del) rs2101837675
NM_004371.4(COPA):c.1368C>T (p.Ile456=)
NM_004371.4(COPA):c.1374T>C (p.Tyr458=)
NM_004371.4(COPA):c.1385G>A (p.Gly462Asp) rs2101837649
NM_004371.4(COPA):c.138G>A (p.Lys46=)
NM_004371.4(COPA):c.1392C>T (p.Leu464=)
NM_004371.4(COPA):c.1403A>T (p.Asp468Val)
NM_004371.4(COPA):c.1413T>C (p.Ser471=)
NM_004371.4(COPA):c.1414A>G (p.Ile472Val)
NM_004371.4(COPA):c.1429G>A (p.Val477Ile)
NM_004371.4(COPA):c.1430T>C (p.Val477Ala)
NM_004371.4(COPA):c.1432C>T (p.Gln478Ter)
NM_004371.4(COPA):c.1437G>A (p.Gln479=)
NM_004371.4(COPA):c.1441C>T (p.Arg481Trp)
NM_004371.4(COPA):c.1442+8A>G
NM_004371.4(COPA):c.1442+8A>T rs754430732
NM_004371.4(COPA):c.1443-16T>A
NM_004371.4(COPA):c.1443-17A>G
NM_004371.4(COPA):c.1443-4T>C rs1571158699
NM_004371.4(COPA):c.1443-7_1443-4del
NM_004371.4(COPA):c.1456G>T (p.Val486Leu) rs1383766227
NM_004371.4(COPA):c.1467T>A (p.Ser489=) rs1045509598
NM_004371.4(COPA):c.1472T>C (p.Val491Ala) rs1571158645
NM_004371.4(COPA):c.1479C>T (p.Tyr493=) rs1299072491
NM_004371.4(COPA):c.1505A>G (p.His502Arg) rs764189695
NM_004371.4(COPA):c.1508T>C (p.Val503Ala) rs2101836771
NM_004371.4(COPA):c.1528G>A (p.Ala510Thr)
NM_004371.4(COPA):c.1533T>A (p.Ile511=)
NM_004371.4(COPA):c.1535T>C (p.Val512Ala)
NM_004371.4(COPA):c.154+19del
NM_004371.4(COPA):c.1558G>A (p.Ala520Thr)
NM_004371.4(COPA):c.1563A>T (p.Leu521Phe) rs187547429
NM_004371.4(COPA):c.1575T>C (p.His525=)
NM_004371.4(COPA):c.1600G>T (p.Ala534Ser)
NM_004371.4(COPA):c.1601C>T (p.Ala534Val)
NM_004371.4(COPA):c.1606G>A (p.Asp536Asn)
NM_004371.4(COPA):c.1607A>G (p.Asp536Gly)
NM_004371.4(COPA):c.1611G>C (p.Glu537Asp)
NM_004371.4(COPA):c.1615G>T (p.Gly539Trp)
NM_004371.4(COPA):c.161T>C (p.Val54Ala)
NM_004371.4(COPA):c.1629T>C (p.Tyr543=)
NM_004371.4(COPA):c.1631C>A (p.Thr544Asn) rs1658752272
NM_004371.4(COPA):c.1645A>G (p.Ile549Val)
NM_004371.4(COPA):c.1662C>T (p.Thr554=) rs1253636443
NM_004371.4(COPA):c.1665T>G (p.Thr555=)
NM_004371.4(COPA):c.1667+19A>C rs2101836380
NM_004371.4(COPA):c.1667+7T>A
NM_004371.4(COPA):c.1667G>C (p.Gly556Ala)
NM_004371.4(COPA):c.1668-17G>C
NM_004371.4(COPA):c.1668-20G>A rs2101829613
NM_004371.4(COPA):c.1668-5C>A
NM_004371.4(COPA):c.166G>A (p.Gly56Ser)
NM_004371.4(COPA):c.1674C>A (p.His558Gln)
NM_004371.4(COPA):c.1674C>T (p.His558=) rs758422851
NM_004371.4(COPA):c.1690C>G (p.Leu564Val)
NM_004371.4(COPA):c.1704C>A (p.Ile568=)
NM_004371.4(COPA):c.1706A>G (p.Tyr569Cys)
NM_004371.4(COPA):c.1710C>T (p.Val570=)
NM_004371.4(COPA):c.1732G>A (p.Val578Ile)
NM_004371.4(COPA):c.1735T>C (p.Tyr579His)
NM_004371.4(COPA):c.1742T>A (p.Leu581Gln)
NM_004371.4(COPA):c.174C>T (p.Asp58=) rs2101880218
NM_004371.4(COPA):c.1756C>T (p.Arg586Cys)
NM_004371.4(COPA):c.1759C>T (p.Pro587Ser) rs1272309771
NM_004371.4(COPA):c.1765G>A (p.Val589Ile)
NM_004371.4(COPA):c.1772C>A (p.Thr591Asn) rs1032077330
NM_004371.4(COPA):c.1783A>G (p.Thr595Ala) rs2101829389
NM_004371.4(COPA):c.1809G>T (p.Leu603=) rs375445896
NM_004371.4(COPA):c.1814A>G (p.Asn605Ser)
NM_004371.4(COPA):c.1826A>T (p.Asp609Val)
NM_004371.4(COPA):c.1830+15T>C
NM_004371.4(COPA):c.1831-17C>A
NM_004371.4(COPA):c.1842G>A (p.Met614Ile)
NM_004371.4(COPA):c.1849A>G (p.Asn617Asp) rs1658504046
NM_004371.4(COPA):c.1857A>T (p.Lys619Asn)
NM_004371.4(COPA):c.1860A>G (p.Leu620=)
NM_004371.4(COPA):c.1860A>T (p.Leu620=) rs2101829145
NM_004371.4(COPA):c.1874T>C (p.Ile625Thr) rs2101829131
NM_004371.4(COPA):c.1896G>A (p.Lys632=)
NM_004371.4(COPA):c.1898_1899delinsCT (p.Gly633Ala)
NM_004371.4(COPA):c.1943G>T (p.Arg648Leu) rs746774599
NM_004371.4(COPA):c.1951C>G (p.Leu651Val)
NM_004371.4(COPA):c.1962G>C (p.Glu654Asp) rs932482882
NM_004371.4(COPA):c.1973T>C (p.Ile658Thr)
NM_004371.4(COPA):c.1975G>C (p.Glu659Gln)
NM_004371.4(COPA):c.1977+10A>G
NM_004371.4(COPA):c.1977+18A>T
NM_004371.4(COPA):c.1978-17C>T rs775260404
NM_004371.4(COPA):c.1978-19G>T rs770019968
NM_004371.4(COPA):c.1978-19_1978-18insGTTA rs759114176
NM_004371.4(COPA):c.1984C>G (p.Leu662Val) rs1014100360
NM_004371.4(COPA):c.1997A>G (p.Lys666Arg)
NM_004371.4(COPA):c.199G>A (p.Val67Ile)
NM_004371.4(COPA):c.2010C>A (p.Asp670Glu)
NM_004371.4(COPA):c.2012A>G (p.Lys671Arg)
NM_004371.4(COPA):c.2013G>A (p.Lys671=)
NM_004371.4(COPA):c.2031G>C (p.Leu677=) rs778053084
NM_004371.4(COPA):c.2043C>T (p.Ala681=) rs2101827768
NM_004371.4(COPA):c.2049G>A (p.Leu683=)
NM_004371.4(COPA):c.2055G>C (p.Gly685=)
NM_004371.4(COPA):c.2070G>A (p.Val690=)
NM_004371.4(COPA):c.2073A>G (p.Glu691=)
NM_004371.4(COPA):c.2087G>A (p.Arg696His)
NM_004371.4(COPA):c.2089A>G (p.Thr697Ala)
NM_004371.4(COPA):c.2107C>G (p.Leu703Val)
NM_004371.4(COPA):c.2112C>T (p.Ser704=)
NM_004371.4(COPA):c.2116C>T (p.Leu706=) rs2101827699
NM_004371.4(COPA):c.2149C>T (p.Arg717Cys) rs555657245
NM_004371.4(COPA):c.2167+13A>G
NM_004371.4(COPA):c.2168-10C>T
NM_004371.4(COPA):c.2168-11A>G
NM_004371.4(COPA):c.2168-15T>C
NM_004371.4(COPA):c.2168-20G>T
NM_004371.4(COPA):c.2177G>A (p.Arg726Lys) rs2101827483
NM_004371.4(COPA):c.2190T>C (p.Ser730=)
NM_004371.4(COPA):c.2195A>T (p.His732Leu)
NM_004371.4(COPA):c.2197T>C (p.Tyr733His)
NM_004371.4(COPA):c.2206G>T (p.Ala736Ser)
NM_004371.4(COPA):c.2208C>G (p.Ala736=) rs2101827451
NM_004371.4(COPA):c.2213A>G (p.Tyr738Cys)
NM_004371.4(COPA):c.2214C>T (p.Tyr738=)
NM_004371.4(COPA):c.2239C>A (p.Arg747=)
NM_004371.4(COPA):c.2239C>T (p.Arg747Trp)
NM_004371.4(COPA):c.2241G>A (p.Arg747=)
NM_004371.4(COPA):c.2241G>C (p.Arg747=)
NM_004371.4(COPA):c.2250G>A (p.Lys750=)
NM_004371.4(COPA):c.2256T>C (p.Cys752=)
NM_004371.4(COPA):c.225T>G (p.Ile75Met)
NM_004371.4(COPA):c.2263+11G>C
NM_004371.4(COPA):c.2263+15C>G
NM_004371.4(COPA):c.2263+3A>G
NM_004371.4(COPA):c.2263+4A>G rs774007795
NM_004371.4(COPA):c.2264-17G>A
NM_004371.4(COPA):c.2264-4A>G rs2101826103
NM_004371.4(COPA):c.2264-8C>A
NM_004371.4(COPA):c.2268C>T (p.Ser756=) rs1571151158
NM_004371.4(COPA):c.2276A>G (p.Tyr759Cys) rs766436110
NM_004371.4(COPA):c.228+11_228+12insTA rs2101880166
NM_004371.4(COPA):c.228+14G>A rs1647956444
NM_004371.4(COPA):c.228+17A>G
NM_004371.4(COPA):c.228+5A>G rs766246693
NM_004371.4(COPA):c.228+8G>A
NM_004371.4(COPA):c.2284G>T (p.Ala762Ser)
NM_004371.4(COPA):c.229-10G>C rs777500215
NM_004371.4(COPA):c.229-3C>T rs769582641
NM_004371.4(COPA):c.2291C>T (p.Thr764Ile)
NM_004371.4(COPA):c.2292C>G (p.Thr764=) rs2101826069
NM_004371.4(COPA):c.2296G>T (p.Gly766Cys) rs1658403444
NM_004371.4(COPA):c.2301A>G (p.Leu767=) rs1377615825
NM_004371.4(COPA):c.2304T>C (p.Asp768=)
NM_004371.4(COPA):c.2308G>A (p.Glu770Lys)
NM_004371.4(COPA):c.2314G>A (p.Glu772Lys) rs1334352247
NM_004371.4(COPA):c.2314G>C (p.Glu772Gln) rs1334352247
NM_004371.4(COPA):c.2315A>G (p.Glu772Gly)
NM_004371.4(COPA):c.2317A>C (p.Ser773Arg) rs750280942
NM_004371.4(COPA):c.2317A>G (p.Ser773Gly) rs750280942
NM_004371.4(COPA):c.2322A>C (p.Leu774=)
NM_004371.4(COPA):c.2326G>A (p.Glu776Lys)
NM_004371.4(COPA):c.2329A>T (p.Thr777Ser) rs2101825999
NM_004371.4(COPA):c.2330C>T (p.Thr777Ile) rs913037992
NM_004371.4(COPA):c.2349G>C (p.Glu783Asp) rs1658401288
NM_004371.4(COPA):c.2353-11C>T
NM_004371.4(COPA):c.2353-14C>A
NM_004371.4(COPA):c.2353-20T>G rs780717019
NM_004371.4(COPA):c.2362A>G (p.Ile788Val)
NM_004371.4(COPA):c.2368C>T (p.Pro790Ser)
NM_004371.4(COPA):c.2375C>T (p.Ala792Val)
NM_004371.4(COPA):c.2378A>G (p.Lys793Arg)
NM_004371.4(COPA):c.2379G>A (p.Lys793=)
NM_004371.4(COPA):c.237T>C (p.Asn79=)
NM_004371.4(COPA):c.2397A>G (p.Ala799=)
NM_004371.4(COPA):c.2398C>T (p.Pro800Ser) rs1557861270
NM_004371.4(COPA):c.2401A>G (p.Ile801Val)
NM_004371.4(COPA):c.2410T>C (p.Leu804=)
NM_004371.4(COPA):c.2414A>G (p.Asp805Gly)
NM_004371.4(COPA):c.2421T>C (p.Asn807=)
NM_004371.4(COPA):c.2440T>C (p.Ser814Pro)
NM_004371.4(COPA):c.2476+11_2476+12delinsGA
NM_004371.4(COPA):c.2476+5G>A
NM_004371.4(COPA):c.2476+6T>A
NM_004371.4(COPA):c.2476+9C>T rs758402711
NM_004371.4(COPA):c.2477-11dup rs2101824686
NM_004371.4(COPA):c.2477-17G>C
NM_004371.4(COPA):c.2477-7T>A
NM_004371.4(COPA):c.2483GAG[1] (p.Gly829del)
NM_004371.4(COPA):c.2486G>A (p.Gly829Glu)
NM_004371.4(COPA):c.2498C>T (p.Ala833Val) rs746722049
NM_004371.4(COPA):c.2504TTGACA[1] (p.835ID[1]) rs772631508
NM_004371.4(COPA):c.2508C>A (p.Asp836Glu) rs771649069
NM_004371.4(COPA):c.2511T>G (p.Ile837Met)
NM_004371.4(COPA):c.2513A>C (p.Asp838Ala)
NM_004371.4(COPA):c.2522G>A (p.Gly841Asp)
NM_004371.4(COPA):c.2526A>G (p.Thr842=) rs1658347201
NM_004371.4(COPA):c.2536G>A (p.Gly846Arg) rs777487139
NM_004371.4(COPA):c.2539G>A (p.Glu847Lys) rs1658346694
NM_004371.4(COPA):c.2541G>A (p.Glu847=)
NM_004371.4(COPA):c.2543A>T (p.Asp848Val)
NM_004371.4(COPA):c.2556G>T (p.Gln852His) rs1658345672
NM_004371.4(COPA):c.2558T>C (p.Leu853Ser)
NM_004371.4(COPA):c.2559G>A (p.Leu853=) rs2101824464
NM_004371.4(COPA):c.2559G>T (p.Leu853Phe)
NM_004371.4(COPA):c.2560G>A (p.Asp854Asn)
NM_004371.4(COPA):c.2567-10T>G
NM_004371.4(COPA):c.2567-17T>C
NM_004371.4(COPA):c.2567-5T>C
NM_004371.4(COPA):c.2575G>A (p.Val859Met) rs540161688
NM_004371.4(COPA):c.2586A>G (p.Thr862=) rs2101824243
NM_004371.4(COPA):c.2587G>C (p.Glu863Gln)
NM_004371.4(COPA):c.2592T>A (p.Gly864=)
NM_004371.4(COPA):c.2598_2600del (p.Asp868del)
NM_004371.4(COPA):c.2602G>A (p.Asp868Asn)
NM_004371.4(COPA):c.2608C>T (p.Leu870Phe) rs1222094117
NM_004371.4(COPA):c.2619A>G (p.Gly873=) rs1335692769
NM_004371.4(COPA):c.2630G>A (p.Gly877Glu)
NM_004371.4(COPA):c.2646AGA[2] (p.Glu884del) rs778904236
NM_004371.4(COPA):c.264A>T (p.Thr88=) rs751570700
NM_004371.4(COPA):c.2652A>T (p.Glu884Asp)
NM_004371.4(COPA):c.2666C>G (p.Pro889Arg) rs2101824120
NM_004371.4(COPA):c.2676+16A>T
NM_004371.4(COPA):c.2677-24_2677-18del
NM_004371.4(COPA):c.2677-9T>C
NM_004371.4(COPA):c.2680A>G (p.Ile894Val) rs1370641046
NM_004371.4(COPA):c.2684C>T (p.Ser895Phe) rs1396829399
NM_004371.4(COPA):c.2686C>T (p.Pro896Ser)
NM_004371.4(COPA):c.2689G>A (p.Gly897Arg)
NM_004371.4(COPA):c.2692G>A (p.Ala898Thr)
NM_004371.4(COPA):c.2701G>A (p.Gly901Arg)
NM_004371.4(COPA):c.270T>C (p.Leu90=)
NM_004371.4(COPA):c.2724G>A (p.Val908=) rs1658305564
NM_004371.4(COPA):c.2731A>G (p.Thr911Ala) rs1658305088
NM_004371.4(COPA):c.2749A>C (p.Thr917Pro) rs751116790
NM_004371.4(COPA):c.2752C>G (p.Gln918Glu)
NM_004371.4(COPA):c.2754+12G>A
NM_004371.4(COPA):c.2754+16C>A rs2101822622
NM_004371.4(COPA):c.2754+16C>T rs2101822622
NM_004371.4(COPA):c.2754+5G>A
NM_004371.4(COPA):c.2754G>A (p.Gln918=)
NM_004371.4(COPA):c.2755-10T>A
NM_004371.4(COPA):c.2755-16_2755-13del
NM_004371.4(COPA):c.2755-25_2755-20del
NM_004371.4(COPA):c.2755A>C (p.Ile919Leu)
NM_004371.4(COPA):c.2762G>A (p.Cys921Tyr)
NM_004371.4(COPA):c.2765A>G (p.Asn922Ser) rs1658297298
NM_004371.4(COPA):c.2773C>G (p.Gln925Glu)
NM_004371.4(COPA):c.2774A>G (p.Gln925Arg)
NM_004371.4(COPA):c.2774A>T (p.Gln925Leu)
NM_004371.4(COPA):c.2794C>G (p.Leu932Val)
NM_004371.4(COPA):c.2804C>G (p.Ser935Cys) rs1658296082
NM_004371.4(COPA):c.2821C>T (p.Arg941Trp)
NM_004371.4(COPA):c.2823+3A>G rs778388338
NM_004371.4(COPA):c.2823+7A>G
NM_004371.4(COPA):c.2823+9C>T
NM_004371.4(COPA):c.2824C>T (p.Leu942Phe)
NM_004371.4(COPA):c.2838A>G (p.Gln946=)
NM_004371.4(COPA):c.2877C>A (p.Phe959Leu)
NM_004371.4(COPA):c.2877C>T (p.Phe959=) rs770192389
NM_004371.4(COPA):c.2894G>T (p.Arg965Leu)
NM_004371.4(COPA):c.2899C>T (p.Arg967Cys)
NM_004371.4(COPA):c.2909A>G (p.Tyr970Cys) rs199945391
NM_004371.4(COPA):c.2909A>T (p.Tyr970Phe)
NM_004371.4(COPA):c.2918T>C (p.Leu973Pro) rs2101821475
NM_004371.4(COPA):c.2919G>C (p.Leu973=)
NM_004371.4(COPA):c.2930C>A (p.Pro977His)
NM_004371.4(COPA):c.2930C>T (p.Pro977Leu)
NM_004371.4(COPA):c.2932T>A (p.Ser978Thr)
NM_004371.4(COPA):c.2935A>T (p.Met979Leu)
NM_004371.4(COPA):c.293C>T (p.Thr98Ile) rs2101874699
NM_004371.4(COPA):c.2948C>A (p.Pro983His)
NM_004371.4(COPA):c.2950A>C (p.Asn984His) rs530747468
NM_004371.4(COPA):c.2950A>T (p.Asn984Tyr)
NM_004371.4(COPA):c.2953C>T (p.Arg985Cys)
NM_004371.4(COPA):c.2954G>A (p.Arg985His)
NM_004371.4(COPA):c.295A>G (p.Thr99Ala)
NM_004371.4(COPA):c.2961-18C>A
NM_004371.4(COPA):c.2961-8C>T rs2101820993
NM_004371.4(COPA):c.2974C>G (p.Leu992Val) rs1658261376
NM_004371.4(COPA):c.2981A>G (p.Asn994Ser) rs1658260963
NM_004371.4(COPA):c.2983G>A (p.Gly995Ser) rs2101820932
NM_004371.4(COPA):c.2998G>A (p.Gly1000Ser)
NM_004371.4(COPA):c.3001C>A (p.Leu1001Met)
NM_004371.4(COPA):c.3006G>A (p.Lys1002=) rs1416745317
NM_004371.4(COPA):c.301T>C (p.Phe101Leu)
NM_004371.4(COPA):c.3027G>A (p.Arg1009=) rs1658258456
NM_004371.4(COPA):c.302T>C (p.Phe101Ser) rs2101874685
NM_004371.4(COPA):c.3038G>C (p.Cys1013Ser)
NM_004371.4(COPA):c.3054A>G (p.Thr1018=)
NM_004371.4(COPA):c.305A>G (p.His102Arg) rs2101874672
NM_004371.4(COPA):c.307C>T (p.His103Tyr)
NM_004371.4(COPA):c.3080A>G (p.Glu1027Gly)
NM_004371.4(COPA):c.3087C>T (p.Phe1029=)
NM_004371.4(COPA):c.309+18C>T
NM_004371.4(COPA):c.309+5G>A
NM_004371.4(COPA):c.309+6T>C
NM_004371.4(COPA):c.309+9T>A
NM_004371.4(COPA):c.3093C>T (p.Ser1031=)
NM_004371.4(COPA):c.3100C>A (p.Leu1034Ile) rs2101820791
NM_004371.4(COPA):c.3119T>C (p.Val1040Ala)
NM_004371.4(COPA):c.3134_3135del (p.Gln1045fs)
NM_004371.4(COPA):c.3141dup (p.Ala1048fs)
NM_004371.4(COPA):c.3147+11C>G
NM_004371.4(COPA):c.3147+20G>A
NM_004371.4(COPA):c.3147+4G>A rs1571147652
NM_004371.4(COPA):c.3147+9G>A
NM_004371.4(COPA):c.3147+9G>T rs1571147645
NM_004371.4(COPA):c.3148-3C>T
NM_004371.4(COPA):c.3148-9C>A rs1658248308
NM_004371.4(COPA):c.314A>G (p.Tyr105Cys)
NM_004371.4(COPA):c.3161T>C (p.Ile1054Thr)
NM_004371.4(COPA):c.3190T>C (p.Leu1064=)
NM_004371.4(COPA):c.3195C>G (p.Ser1065=) rs756147600
NM_004371.4(COPA):c.3196G>A (p.Val1066Met)
NM_004371.4(COPA):c.3196G>T (p.Val1066Leu) rs767991810
NM_004371.4(COPA):c.3231T>C (p.Thr1077=)
NM_004371.4(COPA):c.3247C>T (p.Arg1083Cys)
NM_004371.4(COPA):c.3248G>A (p.Arg1083His) rs141211632
NM_004371.4(COPA):c.3248G>T (p.Arg1083Leu) rs141211632
NM_004371.4(COPA):c.3254G>T (p.Cys1085Phe)
NM_004371.4(COPA):c.3258+11T>C
NM_004371.4(COPA):c.3258+12A>G rs1396586263
NM_004371.4(COPA):c.3258+6A>G
NM_004371.4(COPA):c.3258+7T>C
NM_004371.4(COPA):c.3259-11C>T
NM_004371.4(COPA):c.3259-8T>A
NM_004371.4(COPA):c.3279C>T (p.His1093=)
NM_004371.4(COPA):c.3317G>A (p.Arg1106His)
NM_004371.4(COPA):c.3324C>T (p.Ala1108=) rs1658227004
NM_004371.4(COPA):c.3331C>A (p.Leu1111Met) rs181135283
NM_004371.4(COPA):c.333C>T (p.Ala111=)
NM_004371.4(COPA):c.3344T>G (p.Leu1115Arg)
NM_004371.4(COPA):c.3369C>G (p.Thr1123=)
NM_004371.4(COPA):c.3376C>T (p.Arg1126Trp)
NM_004371.4(COPA):c.337G>A (p.Asp113Asn) rs2101873058
NM_004371.4(COPA):c.3384A>G (p.Leu1128=) rs960224179
NM_004371.4(COPA):c.3391C>T (p.Leu1131Phe)
NM_004371.4(COPA):c.3393C>T (p.Leu1131=)
NM_004371.4(COPA):c.3394G>A (p.Gly1132Arg)
NM_004371.4(COPA):c.3394G>C (p.Gly1132Arg)
NM_004371.4(COPA):c.339T>C (p.Asp113=)
NM_004371.4(COPA):c.3402G>A (p.Lys1134=)
NM_004371.4(COPA):c.3413C>A (p.Ala1138Asp)
NM_004371.4(COPA):c.3413C>T (p.Ala1138Val)
NM_004371.4(COPA):c.3420+11C>T rs2101819641
NM_004371.4(COPA):c.3420+12T>C
NM_004371.4(COPA):c.3420+14C>T rs2101819626
NM_004371.4(COPA):c.3420+15T>C
NM_004371.4(COPA):c.3420+9A>T
NM_004371.4(COPA):c.3421-17C>T rs769632251
NM_004371.4(COPA):c.3421-5C>T rs925092668
NM_004371.4(COPA):c.3421-6C>T rs2101818690
NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile) rs1389932827
NM_004371.4(COPA):c.3424C>T (p.Arg1142Ter)
NM_004371.4(COPA):c.3435G>A (p.Leu1145=) rs2101818653
NM_004371.4(COPA):c.3446A>G (p.Glu1149Gly)
NM_004371.4(COPA):c.3458C>T (p.Thr1153Ile) rs760894494
NM_004371.4(COPA):c.3476A>G (p.Asn1159Ser)
NM_004371.4(COPA):c.3480T>C (p.Tyr1160=)
NM_004371.4(COPA):c.3485T>C (p.Met1162Thr)
NM_004371.4(COPA):c.3493C>T (p.Pro1165Ser)
NM_004371.4(COPA):c.3495C>G (p.Pro1165=) rs2101818577
NM_004371.4(COPA):c.3501C>T (p.Asp1167=)
NM_004371.4(COPA):c.3511G>A (p.Ala1171Thr) rs776432073
NM_004371.4(COPA):c.3512C>T (p.Ala1171Val) rs1189969466
NM_004371.4(COPA):c.3516A>G (p.Ser1172=)
NM_004371.4(COPA):c.3518A>G (p.Tyr1173Cys)
NM_004371.4(COPA):c.3520C>T (p.Arg1174Trp)
NM_004371.4(COPA):c.3532C>T (p.Arg1178Cys)
NM_004371.4(COPA):c.3541C>G (p.Pro1181Ala)
NM_004371.4(COPA):c.354A>T (p.Arg118=)
NM_004371.4(COPA):c.3552G>T (p.Lys1184Asn) rs1265302722
NM_004371.4(COPA):c.3558A>C (p.Pro1186=)
NM_004371.4(COPA):c.3559C>T (p.Leu1187Phe)
NM_004371.4(COPA):c.3565G>T (p.Gly1189Trp)
NM_004371.4(COPA):c.3596A>G (p.Gln1199Arg)
NM_004371.4(COPA):c.3615+10_3615+11delinsTC rs2101818310
NM_004371.4(COPA):c.3615+9T>C rs1028533477
NM_004371.4(COPA):c.3615A>G (p.Thr1205=)
NM_004371.4(COPA):c.3616-12_3616-9del
NM_004371.4(COPA):c.3616-20C>G rs369317260
NM_004371.4(COPA):c.3616-20C>T rs369317260
NM_004371.4(COPA):c.3616-8T>C
NM_004371.4(COPA):c.3652A>G (p.Ile1218Val)
NM_004371.4(COPA):c.3653T>C (p.Ile1218Thr) rs2101817753
NM_004371.4(COPA):c.3654_3655del (p.Ile1218fs)
NM_004371.4(COPA):c.3663G>A (p.Leu1221=) rs2101817741
NM_004371.4(COPA):c.3664C>T (p.Gln1222Ter)
NM_004371.4(COPA):c.3671G>A (p.Arg1224His)
NM_004371.4(COPA):c.385T>C (p.Cys129Arg) rs1647631957
NM_004371.4(COPA):c.386+7C>T rs1488664481
NM_004371.4(COPA):c.387-10T>C
NM_004371.4(COPA):c.387-17dup rs750590749
NM_004371.4(COPA):c.387-8del rs750590749
NM_004371.4(COPA):c.390G>A (p.Val130=) rs1028652764
NM_004371.4(COPA):c.399G>T (p.Gly133=) rs142221638
NM_004371.4(COPA):c.40+10A>G rs894066716
NM_004371.4(COPA):c.40+11A>G
NM_004371.4(COPA):c.40+17G>A rs7555490
NM_004371.4(COPA):c.40+17G>C rs7555490
NM_004371.4(COPA):c.402C>A (p.His134Gln) rs1647575840
NM_004371.4(COPA):c.404A>G (p.Asn135Ser)
NM_004371.4(COPA):c.41-11A>G rs530698139
NM_004371.4(COPA):c.41-11A>T
NM_004371.4(COPA):c.41-13C>G
NM_004371.4(COPA):c.41-4dup
NM_004371.4(COPA):c.411T>C (p.Tyr137=)
NM_004371.4(COPA):c.416T>C (p.Met139Thr)
NM_004371.4(COPA):c.429C>A (p.Phe143Leu)
NM_004371.4(COPA):c.47G>A (p.Ser16Asn) rs1647979140
NM_004371.4(COPA):c.480C>A (p.Arg160=)
NM_004371.4(COPA):c.480C>T (p.Arg160=) rs369092759
NM_004371.4(COPA):c.48C>T (p.Ser16=)
NM_004371.4(COPA):c.496+14G>A
NM_004371.4(COPA):c.496+15T>G
NM_004371.4(COPA):c.496+4_496+7dup
NM_004371.4(COPA):c.496+8G>T rs1229778371
NM_004371.4(COPA):c.497-15_497-13del
NM_004371.4(COPA):c.497-18C>T
NM_004371.4(COPA):c.497-8C>T
NM_004371.4(COPA):c.514C>G (p.Leu172Val)
NM_004371.4(COPA):c.514C>T (p.Leu172=)
NM_004371.4(COPA):c.518C>T (p.Ser173Phe)
NM_004371.4(COPA):c.519_521del (p.Pro174del)
NM_004371.4(COPA):c.527C>T (p.Ala176Val)
NM_004371.4(COPA):c.531G>A (p.Val177=) rs1659465313
NM_004371.4(COPA):c.537G>A (p.Ser179=)
NM_004371.4(COPA):c.540T>C (p.Asp180=)
NM_004371.4(COPA):c.562G>C (p.Asp188His)
NM_004371.4(COPA):c.563A>T (p.Asp188Val) rs770815634
NM_004371.4(COPA):c.578C>T (p.Thr193Ile)
NM_004371.4(COPA):c.585A>T (p.Ala195=)
NM_004371.4(COPA):c.58A>C (p.Lys20Gln)
NM_004371.4(COPA):c.597T>C (p.His199=) rs2101863080
NM_004371.4(COPA):c.606+12T>A
NM_004371.4(COPA):c.606+17C>A rs2101863056
NM_004371.4(COPA):c.606+6T>C
NM_004371.4(COPA):c.607-11C>T
NM_004371.4(COPA):c.607-16C>T
NM_004371.4(COPA):c.607-5T>C rs1167456164
NM_004371.4(COPA):c.607-8_607-7del rs1553206195
NM_004371.4(COPA):c.609T>G (p.Gly203=) rs1659399158
NM_004371.4(COPA):c.617G>A (p.Arg206His) rs934972773
NM_004371.4(COPA):c.646A>G (p.Thr216Ala)
NM_004371.4(COPA):c.646A>T (p.Thr216Ser)
NM_004371.4(COPA):c.647C>T (p.Thr216Ile) rs2101860231
NM_004371.4(COPA):c.657T>G (p.Leu219=) rs1571174206
NM_004371.4(COPA):c.660T>C (p.Ile220=) rs1571174198
NM_004371.4(COPA):c.663A>G (p.Val221=) rs762943238
NM_004371.4(COPA):c.67T>C (p.Trp23Arg) rs1419799952
NM_004371.4(COPA):c.680G>A (p.Arg227His) rs1659391902
NM_004371.4(COPA):c.690G>A (p.Lys230=) rs864309710
NM_004371.4(COPA):c.690G>T (p.Lys230Asn) rs864309710
NM_004371.4(COPA):c.697C>T (p.Arg233Cys)
NM_004371.4(COPA):c.700A>G (p.Met234Val) rs2101860133
NM_004371.4(COPA):c.706+12G>A rs1469584340
NM_004371.4(COPA):c.706+13G>A
NM_004371.4(COPA):c.707-11T>C
NM_004371.4(COPA):c.707-15C>A
NM_004371.4(COPA):c.707-15C>G rs1228231634
NM_004371.4(COPA):c.707-6C>A
NM_004371.4(COPA):c.707-6C>T
NM_004371.4(COPA):c.715G>C (p.Ala239Pro) rs1557868211
NM_004371.4(COPA):c.718T>A (p.Trp240Arg) rs1659063174
NM_004371.4(COPA):c.721G>A (p.Glu241Lys) rs794727995
NM_004371.4(COPA):c.722A>C (p.Glu241Ala) rs1557868201
NM_004371.4(COPA):c.723G>T (p.Glu241Asp)
NM_004371.4(COPA):c.725T>A (p.Val242Asp) rs2101847465
NM_004371.4(COPA):c.725T>C (p.Val242Ala) rs2101847465
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994
NM_004371.4(COPA):c.72C>A (p.Ile24=)
NM_004371.4(COPA):c.731C>T (p.Thr244Ile)
NM_004371.4(COPA):c.744T>A (p.His248Gln)
NM_004371.4(COPA):c.766G>A (p.Val256Ile) rs143714109
NM_004371.4(COPA):c.766G>C (p.Val256Leu) rs143714109
NM_004371.4(COPA):c.766G>T (p.Val256Phe)
NM_004371.4(COPA):c.772C>T (p.His258Tyr) rs1659060523
NM_004371.4(COPA):c.780C>T (p.Arg260=) rs1323202872
NM_004371.4(COPA):c.787T>C (p.Leu263=)
NM_004371.4(COPA):c.790A>G (p.Ile264Val) rs1659059803
NM_004371.4(COPA):c.792C>T (p.Ile264=)
NM_004371.4(COPA):c.804T>G (p.Ser268=)
NM_004371.4(COPA):c.817A>G (p.Ile273Val)
NM_004371.4(COPA):c.821G>A (p.Arg274Gln)
NM_004371.4(COPA):c.841C>T (p.Arg281Trp)
NM_004371.4(COPA):c.842+10T>C
NM_004371.4(COPA):c.843-13G>A
NM_004371.4(COPA):c.843-15G>C rs2101846009
NM_004371.4(COPA):c.843-4C>T
NM_004371.4(COPA):c.843-5T>C
NM_004371.4(COPA):c.862C>T (p.Arg288Cys)
NM_004371.4(COPA):c.874G>T (p.Asp292Tyr) rs1659021909
NM_004371.4(COPA):c.887T>A (p.Val296Asp) rs2101845935
NM_004371.4(COPA):c.8C>T (p.Thr3Ile)
NM_004371.4(COPA):c.901C>A (p.Pro301Thr)
NM_004371.4(COPA):c.916T>C (p.Phe306Leu)
NM_004371.4(COPA):c.918T>C (p.Phe306=)
NM_004371.4(COPA):c.925+18T>C
NM_004371.4(COPA):c.925+2T>C rs1388547930
NM_004371.4(COPA):c.925+7G>A
NM_004371.4(COPA):c.926-17C>T
NM_004371.4(COPA):c.926-5_926-2dup
NM_004371.4(COPA):c.926-6C>T
NM_004371.4(COPA):c.926-6_926-5insCGA rs1376174746
NM_004371.4(COPA):c.926-7C>T
NM_004371.4(COPA):c.944T>C (p.Ile315Thr)
NM_004371.4(COPA):c.984T>A (p.Val328=)
NM_004371.4(COPA):c.990C>T (p.Gly330=) rs1658980972
NM_004371.4(COPA):c.992A>G (p.Asn331Ser)
NM_004371.4(COPA):c.993T>C (p.Asn331=) rs2101844438
NM_004371.4(COPA):c.994A>C (p.Met332Leu)
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.114G>A (p.Arg38=)
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.128-16C>T
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.153T>C (p.Tyr51=)
NM_006397.3(RNASEH2A):c.159C>A (p.Pro53=)
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.205_208del (p.Lys69fs)
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+12C>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.324-16C>G
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.369G>A (p.Gly123=)
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>G
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.412-12T>C
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.432G>A (p.Gly144=)
NM_006397.3(RNASEH2A):c.441G>A (p.Glu147=)
NM_006397.3(RNASEH2A):c.441G>T (p.Glu147Asp) rs772640456
NM_006397.3(RNASEH2A):c.444A>G (p.Thr148=)
NM_006397.3(RNASEH2A):c.445T>C (p.Tyr149His)
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter)
NM_006397.3(RNASEH2A):c.447C>G (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.543T>A (p.Cys181Ter)
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+18C>T
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.577T>C (p.Trp193Arg)
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.654G>T (p.Ala218=)
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.669_670del (p.Val224fs)
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.704G>C (p.Arg235Pro)
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.762-2A>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.801G>A (p.Lys267=)
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.845G>A (p.Arg282His)
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.91C>T (p.Leu31=)
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)
NM_006397.3(RNASEH2A):c.96C>A (p.Gly32=)
NM_006929.4(SKIC2):c.-193A>C rs886061302
NM_006929.4(SKIC2):c.-269T>C rs886061299
NM_006929.5(SKIC2):c.-14G>A rs886061304
NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly) rs1582171003
NM_006929.5(SKIC2):c.1065-2A>G
NM_006929.5(SKIC2):c.1114G>A (p.Asp372Asn)
NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile) rs886061307
NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr) rs1772553546
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
NM_006929.5(SKIC2):c.132C>T (p.Pro44=) rs886061306
NM_006929.5(SKIC2):c.1404-2A>G rs1772611373
NM_006929.5(SKIC2):c.1452del (p.Val485fs) rs750724648
NM_006929.5(SKIC2):c.1566G>A (p.Val522=) rs1772631304
NM_006929.5(SKIC2):c.1598C>T (p.Ala533Val)
NM_006929.5(SKIC2):c.1635_1636insA (p.Gly546fs) rs1562659544
NM_006929.5(SKIC2):c.1637G>A (p.Gly546Asp) rs148748996
NM_006929.5(SKIC2):c.1637del (p.Gly546fs) rs1772636752
NM_006929.5(SKIC2):c.1647+1G>A rs1772638226
NM_006929.5(SKIC2):c.1651C>T (p.Arg551Cys) rs775680687
NM_006929.5(SKIC2):c.1808T>C (p.Phe603Ser) rs886061308
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
NM_006929.5(SKIC2):c.1891G>A (p.Gly631Ser)
NM_006929.5(SKIC2):c.2052C>G (p.His684Gln) rs61761946
NM_006929.5(SKIC2):c.2052C>T (p.His684=) rs61761946
NM_006929.5(SKIC2):c.2060C>A (p.Ser687Tyr) rs762436773
NM_006929.5(SKIC2):c.2203-1G>A
NM_006929.5(SKIC2):c.2341-1G>C
NM_006929.5(SKIC2):c.2341-1G>T rs1772848223
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys) rs148221996
NM_006929.5(SKIC2):c.2479-7T>C rs190972540
NM_006929.5(SKIC2):c.2731+14A>C rs1772908176
NM_006929.5(SKIC2):c.2977dup (p.Met993fs) rs1582187890
NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter) rs200271795
NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)
NM_006929.5(SKIC2):c.3188G>C (p.Arg1063Pro)
NM_006929.5(SKIC2):c.3467A>T (p.Gln1156Leu) rs747936095
NM_006929.5(SKIC2):c.354+15G>T rs755363139
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_006929.5(SKIC2):c.3629T>C (p.Leu1210Pro)
NM_006929.5(SKIC2):c.470-1G>A
NM_006929.5(SKIC2):c.510_511insAGCTGAACACACGG (p.Glu171delinsSerTer)
NM_006929.5(SKIC2):c.697C>T (p.Gln233Ter)
NM_006929.5(SKIC2):c.904C>T (p.Gln302Ter) rs751074844
NM_007248.3(TREX1):c.1033_1050del rs1575295176
NM_014314.4(RIGI):c.1118A>C (p.Glu373Ala) rs786204847
NM_014314.4(RIGI):c.1376-21dup rs71302893
NM_014314.4(RIGI):c.1481-21dup rs71504272
NM_014314.4(RIGI):c.1529A>T (p.Glu510Val) rs1587586052
NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp) rs145874548
NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu) rs771103623
NM_014314.4(RIGI):c.396_399del (p.Asn133fs) rs760088776
NM_014314.4(RIGI):c.803G>T (p.Cys268Phe) rs786204848
NM_014314.4(RIGI):c.816dup (p.Val273fs) rs781124785
NM_014314.4(RIGI):c.877G>C (p.Val293Leu)
NM_014639.4(SKIC3):c.*1C>G
NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)
NM_014639.4(SKIC3):c.1134+1G>T rs2112344385
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
NM_014639.4(SKIC3):c.1187A>T (p.Tyr396Phe) rs142971570
NM_014639.4(SKIC3):c.1221+1G>C rs200085753
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=) rs1747534368
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
NM_014639.4(SKIC3):c.154G>T (p.Glu52Ter)
NM_014639.4(SKIC3):c.1632+1del rs1060499527
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val) rs1747497202
NM_014639.4(SKIC3):c.1757+1G>A rs570910902
NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile) rs150894862
NM_014639.4(SKIC3):c.2114+2T>A
NM_014639.4(SKIC3):c.2114+5G>A
NM_014639.4(SKIC3):c.2115-1G>A rs2112320552
NM_014639.4(SKIC3):c.2181_2182del (p.Tyr728fs)
NM_014639.4(SKIC3):c.2251C>T (p.Gln751Ter) rs387907148
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter) rs755681347
NM_014639.4(SKIC3):c.2353_2361del (p.Asn785_Tyr787del) rs1174587137
NM_014639.4(SKIC3):c.2387del (p.Thr796fs)
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys) rs1347862457
NM_014639.4(SKIC3):c.2515+1G>C rs1060499528
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014639.4(SKIC3):c.2778+2T>G
NM_014639.4(SKIC3):c.2795G>T (p.Gly932Val)
NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter) rs534237033
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter) rs2112308481
NM_014639.4(SKIC3):c.2849_2850del (p.Glu950fs) rs2112308448
NM_014639.4(SKIC3):c.2921-1G>A
NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)
NM_014639.4(SKIC3):c.3342-37del rs35823895
NM_014639.4(SKIC3):c.3426dup (p.Ala1143fs) rs771031428
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs) rs2112260281
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
NM_014639.4(SKIC3):c.4070del (p.Pro1357fs) rs1582849807
NM_014639.4(SKIC3):c.409C>T (p.Arg137Ter) rs776321294
NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)
NM_014639.4(SKIC3):c.4108C>T (p.Gln1370Ter) rs2112237964
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs) rs1582849711
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_014639.4(SKIC3):c.439C>T (p.Gln147Ter) rs387907147
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg) rs757945497
NM_014639.4(SKIC3):c.4620+1G>C rs370373017
NM_014639.4(SKIC3):c.53_54del (p.Arg18fs)
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter) rs1580193741
NM_014639.4(SKIC3):c.828del (p.Ile276fs) rs766378178
NM_014639.4(SKIC3):c.831del (p.Gly277_Leu278insTer)
NM_014639.4(SKIC3):c.860del (p.Lys287fs) rs1321345597
NM_015474.4(SAMHD1):c.*711A>C rs886056644
NM_015474.4(SAMHD1):c.*717G>C rs1990092783
NM_015474.4(SAMHD1):c.*882T>C rs1990087887
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+10G>T
NM_015474.4(SAMHD1):c.1062+12C>T
NM_015474.4(SAMHD1):c.1062+13A>G
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+1G>T
NM_015474.4(SAMHD1):c.1062+20G>A
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.1077G>T (p.Leu359=)
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.1134T>C (p.Val378=)
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.1254_1257dup (p.Thr420fs)
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.1401G>C (p.Lys467Asn)
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+8A>G
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.1411-13T>C
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.1504G>T (p.Val502Phe)
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.1609-4A>C
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
NM_015474.4(SAMHD1):c.1615C>T (p.Gln539Ter)
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.1638A>C (p.Ala546=)
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.1652G>C (p.Arg551Pro)
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.1668G>A (p.Lys556=)
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+17T>G
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.1747-12_1747-9del rs2148352274
NM_015474.4(SAMHD1):c.1747-15C>T
NM_015474.4(SAMHD1):c.1747-16T>A rs749714514
NM_015474.4(SAMHD1):c.1747-17CT[3] rs774995485
NM_015474.4(SAMHD1):c.1747-18del
NM_015474.4(SAMHD1):c.1747-8C>G
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+11C>T
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.209-9del
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>C (p.Leu81=)
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+16T>C
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.276-10G>T
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.309T>C (p.Tyr103=)
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.349-13C>T
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.349-6_354del
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
NM_015474.4(SAMHD1):c.351A>G (p.Val117=)
NM_015474.4(SAMHD1):c.357T>C (p.Asn119=)
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.366C>A (p.Ile122=)
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.428G>T (p.Arg143Leu)
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.474A>G (p.Pro158=)
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.505C>T (p.Leu169=)
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+4A>G
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.527_530dup (p.Cys177fs)
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.626-17C>T
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.664_673del (p.Ile222fs)
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.702A>G (p.Glu234=)
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.724G>T (p.Glu242Ter)
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.783T>C (p.Pro261=)
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.912_913insGGGA (p.Arg305fs)
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.954-15T>C
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_015932.6(POMP):c.334_335del (p.Ile112fs) rs1555257073
NM_015932.6(POMP):c.340_344dup (p.Glu115fs) rs1555257075
NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs) rs1555257076
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017414.4(USP18):c.358C>T (p.Pro120Ser)
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017414.4(USP18):c.772C>T (p.Arg258Ter)
NM_017414.4(USP18):c.891+1G>T
NM_017414.4(USP18):c.907G>A (p.Glu303Lys)
NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter)
NM_020232.5(PSMG2):c.666_667del (p.Tyr223fs) rs2040458488
NM_020232.5(PSMG2):c.675T>G (p.Asn225Lys) rs1323730269
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.1028C>T (p.Ala343Val)
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.1056del (p.Ala353fs)
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr) rs762847175
NM_022168.4(IFIH1):c.1062T>C (p.Ser354=)
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.1073A>G (p.Lys358Arg)
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+16A>C
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.1096-19del
NM_022168.4(IFIH1):c.1096-20A>C
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.1098A>G (p.Val366=)
NM_022168.4(IFIH1):c.1099C>G (p.Leu367Val)
NM_022168.4(IFIH1):c.1099C>T (p.Leu367=) rs898579910
NM_022168.4(IFIH1):c.1106T>C (p.Val369Ala)
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.113T>C (p.Leu38Pro) rs919140409
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.1164T>C (p.Ile388=)
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.1181C>T (p.Thr394Ile)
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.1226T>C (p.Ile409Thr)
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.1246A>G (p.Ile416Val)
NM_022168.4(IFIH1):c.1250T>A (p.Leu417His)
NM_022168.4(IFIH1):c.1260C>T (p.Ser420=)
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.1290T>C (p.Ala430=)
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.1357G>A (p.Val453Met) rs367921237
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.1374G>A (p.Met458Ile)
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.1412T>C (p.Leu471Pro)
NM_022168.4(IFIH1):c.1419del (p.Glu474fs) rs2105201912
NM_022168.4(IFIH1):c.1428A>G (p.Lys476=)
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.1432G>T (p.Val478Leu)
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.1486G>C (p.Ala496Pro)
NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp)
NM_022168.4(IFIH1):c.148G>T (p.Val50Phe)
NM_022168.4(IFIH1):c.1490C>G (p.Thr497Arg)
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.1505C>A (p.Ala502Asp)
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys) rs772032662
NM_022168.4(IFIH1):c.1512A>C (p.Glu504Asp)
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>A
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.1555A>T (p.Lys519Ter)
NM_022168.4(IFIH1):c.1557_1558del (p.Lys519fs)
NM_022168.4(IFIH1):c.155C>T (p.Thr52Ile)
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.1581A>T (p.Gln527His)
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.1595T>C (p.Ile532Thr)
NM_022168.4(IFIH1):c.1599G>A (p.Gln533=)
NM_022168.4(IFIH1):c.1602G>A (p.Glu534=)
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.1621A>G (p.Ile541Val)
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.1652A>G (p.Lys551Arg)
NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs)
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys) rs1193030860
NM_022168.4(IFIH1):c.1654G>T (p.Glu552Ter)
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.1709T>G (p.Met570Arg)
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>A (p.Gln580Lys)
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter) rs774888783
NM_022168.4(IFIH1):c.1741T>C (p.Trp581Arg)
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.1766-18T>A
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.1776A>C (p.Glu592Asp)
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.1795G>A (p.Val599Ile)
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.1838T>C (p.Ile613Thr)
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.1859T>C (p.Ile620Thr)
NM_022168.4(IFIH1):c.185T>C (p.Leu62Pro)
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.1883C>T (p.Thr628Ile)
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.1918G>A (p.Val640Ile)
NM_022168.4(IFIH1):c.1922T>C (p.Ile641Thr)
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.1951G>A (p.Asp651Asn)
NM_022168.4(IFIH1):c.1952A>G (p.Asp651Gly)
NM_022168.4(IFIH1):c.195C>G (p.Thr65=)
NM_022168.4(IFIH1):c.1962T>C (p.Cys654=)
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.1A>C (p.Met1Leu)
NM_022168.4(IFIH1):c.2002A>T (p.Lys668Ter)
NM_022168.4(IFIH1):c.2002_2003insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACCTTTGA (p.Lys668fs)
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.2045-10T>A
NM_022168.4(IFIH1):c.2045-15A>T
NM_022168.4(IFIH1):c.2045-1G>T rs748813106
NM_022168.4(IFIH1):c.2045-5T>A
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.2056del (p.Met686fs)
NM_022168.4(IFIH1):c.2061G>T (p.Leu687Phe)
NM_022168.4(IFIH1):c.2062A>G (p.Lys688Glu)
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.2071_2074del (p.Ala691fs)
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.2100G>A (p.Lys700=)
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer) rs1682679223
NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln)
NM_022168.4(IFIH1):c.2103G>A (p.Leu701=) rs1576224311
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.2135A>G (p.Tyr712Cys)
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.215del (p.His72fs)
NM_022168.4(IFIH1):c.2160A>G (p.Arg720=)
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg) rs2105196666
NM_022168.4(IFIH1):c.2169C>T (p.Ile723=)
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.216C>T (p.His72=)
NM_022168.4(IFIH1):c.2170T>A (p.Phe724Ile)
NM_022168.4(IFIH1):c.2181A>G (p.Thr727=)
NM_022168.4(IFIH1):c.2183G>T (p.Arg728Leu)
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn) rs375745122
NM_022168.4(IFIH1):c.2189G>C (p.Ser730Thr)
NM_022168.4(IFIH1):c.218T>G (p.Leu73Arg)
NM_022168.4(IFIH1):c.2191G>A (p.Ala731Thr)
NM_022168.4(IFIH1):c.2196T>A (p.Tyr732Ter)
NM_022168.4(IFIH1):c.21A>G (p.Thr7=)
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.2211G>C (p.Trp737Cys)
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.222T>A (p.Gly74=)
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.2302C>G (p.Gln768Glu)
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.2305-4A>G
NM_022168.4(IFIH1):c.2305-5T>C
NM_022168.4(IFIH1):c.2307T>C (p.Asn769=)
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.2333T>A (p.Phe778Tyr)
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.2359A>C (p.Ile787Leu)
NM_022168.4(IFIH1):c.2372T>C (p.Val791Ala) rs2105193712
NM_022168.4(IFIH1):c.2384G>A (p.Gly795Asp)
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.2403dup (p.Asn802Ter)
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.2411T>C (p.Val804Ala)
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>A (p.Ile805=)
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.2434A>G (p.Asn812Asp)
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+18T>C
NM_022168.4(IFIH1):c.2454+1G>T rs778780074
NM_022168.4(IFIH1):c.2454+20C>T
NM_022168.4(IFIH1):c.2454+3A>T
NM_022168.4(IFIH1):c.2454+4C>A
NM_022168.4(IFIH1):c.2454+4C>G
NM_022168.4(IFIH1):c.2454+4C>T rs886038669
NM_022168.4(IFIH1):c.2454+5A>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.2457C>T (p.Ala819=)
NM_022168.4(IFIH1):c.2458C>T (p.Arg820Cys)
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.2465G>C (p.Arg822Pro)
NM_022168.4(IFIH1):c.2471G>A (p.Arg824Lys) rs1238832404
NM_022168.4(IFIH1):c.2472A>C (p.Arg824Ser)
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.2494C>G (p.Leu832Val)
NM_022168.4(IFIH1):c.2499T>G (p.Val833=)
NM_022168.4(IFIH1):c.2503C>T (p.His835Tyr)
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>G (p.Glu842Gly) rs775472922
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.2534C>T (p.Thr845Ile)
NM_022168.4(IFIH1):c.2535A>C (p.Thr845=)
NM_022168.4(IFIH1):c.2539A>C (p.Asn847His)
NM_022168.4(IFIH1):c.253A>G (p.Arg85Gly)
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.2552A>G (p.Glu851Gly)
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.2590A>T (p.Met864Leu)
NM_022168.4(IFIH1):c.2591T>C (p.Met864Thr)
NM_022168.4(IFIH1):c.2591T>G (p.Met864Arg)
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.2608_2613dup (p.His871_Lys872insAlaHis)
NM_022168.4(IFIH1):c.2609C>T (p.Ala870Val)
NM_022168.4(IFIH1):c.2611C>T (p.His871Tyr)
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.2617-18A>T
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.2696A>T (p.Asn899Ile)
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.2710A>T (p.Thr904Ser)
NM_022168.4(IFIH1):c.2712T>G (p.Thr904=)
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.274G>T (p.Ala92Ser)
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.2791A>C (p.Met931Leu)
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.2799A>C (p.Pro933=)
NM_022168.4(IFIH1):c.2800G>A (p.Glu934Lys)
NM_022168.4(IFIH1):c.2805C>T (p.Phe935=)
NM_022168.4(IFIH1):c.2807+10G>A
NM_022168.4(IFIH1):c.2807+12A>C
NM_022168.4(IFIH1):c.2807+14G>A rs1423682802
NM_022168.4(IFIH1):c.2807+1G>C
NM_022168.4(IFIH1):c.2808-12T>C
NM_022168.4(IFIH1):c.2808-14T>G
NM_022168.4(IFIH1):c.2808-15C>T
NM_022168.4(IFIH1):c.2808-18T>C rs2105187140
NM_022168.4(IFIH1):c.2808-20T>C
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.2815T>G (p.Tyr939Asp)
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.2852G>A (p.Cys951Tyr)
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.2873G>A (p.Gly958Asp)
NM_022168.4(IFIH1):c.2880C>T (p.Ile960=)
NM_022168.4(IFIH1):c.2884T>C (p.Cys962Arg) rs1559808756
NM_022168.4(IFIH1):c.2885G>C (p.Cys962Ser)
NM_022168.4(IFIH1):c.288C>T (p.Asn96=)
NM_022168.4(IFIH1):c.2891G>A (p.Cys964Tyr)
NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val) rs2105186932
NM_022168.4(IFIH1):c.2895C>G (p.Gly965=)
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.2899-17T>A
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.2914A>G (p.Met972Val)
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.2938C>T (p.Pro980Ser)
NM_022168.4(IFIH1):c.2939C>T (p.Pro980Leu)
NM_022168.4(IFIH1):c.2941T>C (p.Cys981Arg)
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.2967G>A (p.Val989=)
NM_022168.4(IFIH1):c.2968G>T (p.Val990Phe) rs766879801
NM_022168.4(IFIH1):c.296T>A (p.Leu99His)
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.3009G>T (p.Trp1003Cys)
NM_022168.4(IFIH1):c.3012A>G (p.Val1004=)
NM_022168.4(IFIH1):c.3013G>A (p.Glu1005Lys)
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.3029T>C (p.Phe1010Ser)
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.335A>G (p.Asp112Gly)
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.342T>C (p.Tyr114=)
NM_022168.4(IFIH1):c.343C>T (p.Leu115Phe)
NM_022168.4(IFIH1):c.345C>T (p.Leu115=)
NM_022168.4(IFIH1):c.349C>T (p.Leu117=)
NM_022168.4(IFIH1):c.35G>T (p.Arg12Leu)
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.468A>G (p.Glu156=)
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.518del (p.Gln173fs)
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.535T>A (p.Ser179Thr)
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.543T>C (p.Phe181=)
NM_022168.4(IFIH1):c.545T>G (p.Leu182Arg)
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.557G>T (p.Arg186Leu) rs189443152
NM_022168.4(IFIH1):c.565G>A (p.Gly189Arg)
NM_022168.4(IFIH1):c.573T>C (p.Asn191=)
NM_022168.4(IFIH1):c.574G>A (p.Glu192Lys)
NM_022168.4(IFIH1):c.575A>G (p.Glu192Gly)
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.612A>G (p.Glu204=)
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+1G>T
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.623-3C>T
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.655C>T (p.Gln219Ter)
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.719T>A (p.Met240Lys)
NM_022168.4(IFIH1):c.727A>T (p.Asn243Tyr)
NM_022168.4(IFIH1):c.728A>G (p.Asn243Ser)
NM_022168.4(IFIH1):c.729C>T (p.Asn243=)
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>C (p.Ser248=)
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+15T>G
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.770-10T>C rs1683038128
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.79C>T (p.Gln27Ter)
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.814G>C (p.Glu272Gln)
NM_022168.4(IFIH1):c.828T>A (p.His276Gln) rs2105214711
NM_022168.4(IFIH1):c.829A>G (p.Asn277Asp)
NM_022168.4(IFIH1):c.837C>T (p.Asn279=)
NM_022168.4(IFIH1):c.838A>G (p.Met280Val)
NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)
NM_022168.4(IFIH1):c.855_874+1dup
NM_022168.4(IFIH1):c.856A>C (p.Thr286Pro)
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.88C>T (p.Pro30Ser)
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.92T>C (p.Val31Ala)
NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter) rs1057520076
NM_022168.4(IFIH1):c.934C>G (p.Gln312Glu)
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.950A>C (p.Gln317Pro)
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.967A>G (p.Lys323Glu)
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.985C>A (p.Leu329Ile)
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.995G>A (p.Gly332Glu)
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.-5_4delinsACC (p.Met1_Ala2del)
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+16A>G
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+1G>A
NM_024570.4(RNASEH2B):c.244+2T>C
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.268C>T (p.Pro90Ser)
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.286C>A (p.Leu96Met) rs2137938188
NM_024570.4(RNASEH2B):c.288G>T (p.Leu96=)
NM_024570.4(RNASEH2B):c.28G>T (p.Gly10Trp)
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>C (p.Val118Leu)
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.36C>T (p.Gly12=)
NM_024570.4(RNASEH2B):c.371del (p.Asn124fs)
NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=)
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val) rs569343532
NM_024570.4(RNASEH2B):c.379T>C (p.Leu127=)
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.429G>A (p.Glu143=)
NM_024570.4(RNASEH2B):c.436+10A>C rs2137952956
NM_024570.4(RNASEH2B):c.436+17A>C
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>G (p.Tyr156Ter)
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.486G>A (p.Lys162=)
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.65-2A>G
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+19C>T
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.699-4T>G
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.818A>T (p.Glu273Val)
NM_024570.4(RNASEH2B):c.820_821insCA (p.Lys274fs)
NM_024570.4(RNASEH2B):c.822+13A>G
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.823-8A>T
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.855T>A (p.Ala285=)
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.926T>A (p.Ile309Asn)
NM_024570.4(RNASEH2B):c.929del (p.Gly310fs) rs1952051723
NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=)
NM_024570.4(RNASEH2B):c.98dup (p.Asn33fs)
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.122C>T (p.Pro41Leu)
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+11C>A
NM_032193.4(RNASEH2C):c.172+13G>T
NM_032193.4(RNASEH2C):c.172+14C>A rs1027275130
NM_032193.4(RNASEH2C):c.172+15C>G
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.173-5T>C
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.18A>G (p.Glu6=)
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.240G>A (p.Val80=)
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.249G>A (p.Val83=)
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+16G>A
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.411C>T (p.Ile137=)
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>A (p.Pro140=)
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+10C>T
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.469-10C>T
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>C (p.Val25=)
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>A (p.Leu32=)
NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)
NM_032193.4(RNASEH2C):c.9C>T (p.Ser3=)
NM_033629.4(TREX1):c.-206G>T rs886058622
NM_033629.4(TREX1):c.-510delC rs3135939
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
NM_033629.6(TREX1):c.-13_13del (p.Met1fs)
NM_033629.6(TREX1):c.-26-52C>T rs2040311705
NM_033629.6(TREX1):c.-27+4A>G
NM_033629.6(TREX1):c.-50CTGC[4] rs371036312
NM_033629.6(TREX1):c.102G>A (p.Leu34=)
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
NM_033629.6(TREX1):c.111G>A (p.Leu37=)
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) rs2040326850
NM_033629.6(TREX1):c.115G>C (p.Val39Leu)
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.128C>T (p.Ala43Val)
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.132G>C (p.Leu44=) rs2107255846
NM_033629.6(TREX1):c.137G>C (p.Ser46Thr)
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.152_153del (p.Gln51fs) rs773808155
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.15C>T (p.Ala5=)
NM_033629.6(TREX1):c.160C>A (p.Pro54Thr)
NM_033629.6(TREX1):c.163C>T (p.Pro55Ser)
NM_033629.6(TREX1):c.164C>T (p.Pro55Leu)
NM_033629.6(TREX1):c.165C>T (p.Pro55=)
NM_033629.6(TREX1):c.167C>G (p.Thr56Arg)
NM_033629.6(TREX1):c.168A>C (p.Thr56=) rs770441459
NM_033629.6(TREX1):c.172C>T (p.Pro58Ser)
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
NM_033629.6(TREX1):c.175C>T (p.Pro59Ser)
NM_033629.6(TREX1):c.177A>G (p.Pro59=)
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
NM_033629.6(TREX1):c.179C>T (p.Pro60Leu)
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.232A>G (p.Ser78Gly)
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.270T>A (p.Ala90=)
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.310C>G (p.Leu104Val)
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.319C>A (p.Leu107Met)
NM_033629.6(TREX1):c.319C>G (p.Leu107Val)
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.338G>T (p.Arg113Leu)
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.358T>A (p.Cys120Ser)
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.Ala123_His124insAla) 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.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.378T>C (p.Gly126=)
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
NM_033629.6(TREX1):c.382C>A (p.Arg128Ser)
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
NM_033629.6(TREX1):c.385T>A (p.Tyr129Asn)
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.431C>G (p.Thr144Ser)
NM_033629.6(TREX1):c.433A>T (p.Ser145Cys)
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) rs2040351297
NM_033629.6(TREX1):c.43_45dup (p.Ile15_Phe16insIle) rs2040322179
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
NM_033629.6(TREX1):c.446G>A (p.Gly149Asp)
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.457G>A (p.Val153Met)
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.Ile156_Thr157insIle) 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.493G>C (p.Ala165Pro)
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.50T>C (p.Phe17Ser)
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.538G>C (p.Gly180Arg)
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.549C>T (p.Tyr183=)
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.558_573dup (p.Pro192fs)
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.562G>A (p.Gly188Arg)
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.579C>T (p.Asp193=)
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.5G>A (p.Gly2Asp)
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.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) rs78379807
NM_033629.6(TREX1):c.60G>A (p.Glu20=)
NM_033629.6(TREX1):c.610C>G (p.Leu204Val)
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.617G>C (p.Ser206Thr)
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.633A>G (p.Arg211=)
NM_033629.6(TREX1):c.635C>T (p.Pro212Leu)
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.653G>A (p.Trp218Ter)
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
NM_033629.6(TREX1):c.657G>A (p.Val219=)
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.686_688dup (p.Ile229_Arg230insIle)
NM_033629.6(TREX1):c.693dup (p.Met232fs)
NM_033629.6(TREX1):c.694A>G (p.Met232Val) rs2040371837
NM_033629.6(TREX1):c.698A>G (p.Tyr233Cys)
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.703_706dup (p.Thr236fs) rs1560113283
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.728_729insT (p.Arg244fs)
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>A (p.Pro25His)
NM_033629.6(TREX1):c.74C>G (p.Pro25Arg)
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.758_760dup (p.His253_Leu254insHis)
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.772A>G (p.Arg258Gly)
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.797A>C (p.Glu266Ala)
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.814del (p.Asp272fs) rs2107265386
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.835C>T (p.Pro279Ser)
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.850dup (p.Arg284fs)
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.863T>C (p.Leu288Pro)
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.913_916dup (p.Gly306fs)
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)
NM_033629.6(TREX1):c.918A>G (p.Gly306=)
NM_033629.6(TREX1):c.91G>A (p.Val31Ile) rs1057321761
NM_033629.6(TREX1):c.921A>G (p.Leu307=)
NM_033629.6(TREX1):c.923C>T (p.Ser308Phe)
NM_033629.6(TREX1):c.925C>G (p.Leu309Val)
NM_033629.6(TREX1):c.930C>A (p.Ala310=)
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) rs1265570241
NM_033629.6(TREX1):c.939G>A (p.Gly313=) rs2040393602
NM_033629.6(TREX1):c.95C>A (p.Thr32Lys)
NM_033629.6(TREX1):c.96G>A (p.Thr32=)
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT rs1255543147
NM_148919.4(PSMB8):c.*116C>T rs56138642
NM_148919.4(PSMB8):c.-35C>T rs886061311
NM_148919.4(PSMB8):c.103T>G (p.Phe35Val)
NM_148919.4(PSMB8):c.108_118del (p.Met37fs)
NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser) rs780017925
NM_148919.4(PSMB8):c.133C>A (p.Pro45Thr) rs776484021
NM_148919.4(PSMB8):c.134C>G (p.Pro45Arg)
NM_148919.4(PSMB8):c.135C>T (p.Pro45=)
NM_148919.4(PSMB8):c.139G>A (p.Gly47Arg)
NM_148919.4(PSMB8):c.144G>A (p.Met48Ile) rs2127380153
NM_148919.4(PSMB8):c.147+15G>A rs2127380090
NM_148919.4(PSMB8):c.147+19C>T
NM_148919.4(PSMB8):c.147+5G>C
NM_148919.4(PSMB8):c.147+7G>A
NM_148919.4(PSMB8):c.147+7del
NM_148919.4(PSMB8):c.148-10_148-6del rs1562352647
NM_148919.4(PSMB8):c.148-13T>C
NM_148919.4(PSMB8):c.148-5A>T
NM_148919.4(PSMB8):c.151A>C (p.Thr51Pro) rs2127378839
NM_148919.4(PSMB8):c.159C>A (p.Phe53Leu)
NM_148919.4(PSMB8):c.15T>C (p.Asp5=) rs768986846
NM_148919.4(PSMB8):c.162C>T (p.Phe54=)
NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) rs886061310
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) rs1562352512
NM_148919.4(PSMB8):c.170T>C (p.Leu57Pro) rs1770032427
NM_148919.4(PSMB8):c.188G>A (p.Arg63Lys) rs1770030436
NM_148919.4(PSMB8):c.189G>A (p.Arg63=) rs752051688
NM_148919.4(PSMB8):c.18A>C (p.Val6=)
NM_148919.4(PSMB8):c.195T>A (p.Val65=) rs2127378696
NM_148919.4(PSMB8):c.212A>G (p.His71Arg)
NM_148919.4(PSMB8):c.218C>T (p.Thr73Ile)
NM_148919.4(PSMB8):c.21C>A (p.Cys7Ter)
NM_148919.4(PSMB8):c.225G>A (p.Thr75=)
NM_148919.4(PSMB8):c.227_230dup (p.Phe78fs)
NM_148919.4(PSMB8):c.228C>G (p.Leu76=)
NM_148919.4(PSMB8):c.228C>T (p.Leu76=)
NM_148919.4(PSMB8):c.240C>T (p.Phe80=) rs529946385
NM_148919.4(PSMB8):c.258A>G (p.Ala86=)
NM_148919.4(PSMB8):c.26C>T (p.Ala9Val) rs1770128124
NM_148919.4(PSMB8):c.274G>C (p.Ala92Pro)
NM_148919.4(PSMB8):c.27C>A (p.Ala9=)
NM_148919.4(PSMB8):c.284G>T (p.Gly95Val)
NM_148919.4(PSMB8):c.287C>A (p.Ser96Tyr)
NM_148919.4(PSMB8):c.293T>G (p.Ile98Ser) rs753139724
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly) rs1381795628
NM_148919.4(PSMB8):c.296-11T>A
NM_148919.4(PSMB8):c.296-15T>G
NM_148919.4(PSMB8):c.296-4C>T rs2127378189
NM_148919.4(PSMB8):c.304C>A (p.Arg102=)
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met) rs371826956
NM_148919.4(PSMB8):c.309G>T (p.Val103=) rs2127378137
NM_148919.4(PSMB8):c.312C>T (p.Asn104=)
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln) rs1554239543
NM_148919.4(PSMB8):c.318G>C (p.Val106=)
NM_148919.4(PSMB8):c.31C>T (p.Arg11Ter)
NM_148919.4(PSMB8):c.31dup (p.Arg11fs) rs775701157
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr) rs1769997640
NM_148919.4(PSMB8):c.337del (p.Leu113fs)
NM_148919.4(PSMB8):c.342T>C (p.Leu114=)
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr) rs1769996135
NM_148919.4(PSMB8):c.352T>C (p.Ser118Pro)
NM_148919.4(PSMB8):c.35G>T (p.Gly12Val) rs1770125566
NM_148919.4(PSMB8):c.360T>G (p.Cys120Trp) rs2127378014
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn) rs1769994178
NM_148919.4(PSMB8):c.383del (p.Glu128fs)
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu) rs369078226
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) rs146254972
NM_148919.4(PSMB8):c.408-17A>G
NM_148919.4(PSMB8):c.408G>A (p.Arg136=)
NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys) rs1769955269
NM_148919.4(PSMB8):c.434del (p.Arg145fs)
NM_148919.4(PSMB8):c.441A>G (p.Ser147=) rs1582606252
NM_148919.4(PSMB8):c.447G>A (p.Ser149=)
NM_148919.4(PSMB8):c.447G>T (p.Ser149=)
NM_148919.4(PSMB8):c.459G>A (p.Lys153=)
NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe)
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter) rs2127377117
NM_148919.4(PSMB8):c.504T>C (p.Ser168=)
NM_148919.4(PSMB8):c.50C>A (p.Ser17Ter)
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr) rs756049842
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val) rs1582605795
NM_148919.4(PSMB8):c.51G>C (p.Ser17=)
NM_148919.4(PSMB8):c.537+17C>A rs2127376941
NM_148919.4(PSMB8):c.537+18T>C
NM_148919.4(PSMB8):c.538-14C>G
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) rs1769920763
NM_148919.4(PSMB8):c.555C>T (p.Tyr185=) rs751342591
NM_148919.4(PSMB8):c.561T>C (p.Asp187=) rs753281221
NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys) rs1012282076
NM_148919.4(PSMB8):c.564A>G (p.Glu188=)
NM_148919.4(PSMB8):c.567T>C (p.His189=)
NM_148919.4(PSMB8):c.576G>A (p.Arg192=) rs1769917216
NM_148919.4(PSMB8):c.57C>T (p.Leu19=)
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val) rs387906680
NM_148919.4(PSMB8):c.606T>C (p.Ser202=)
NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs) rs1769913209
NM_148919.4(PSMB8):c.609G>A (p.Gly203=)
NM_148919.4(PSMB8):c.60G>T (p.Pro20=)
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.636_643del (p.Asp212fs)
NM_148919.4(PSMB8):c.646C>A (p.Arg216=)
NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)
NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln)
NM_148919.4(PSMB8):c.648G>C (p.Arg216=) rs1044076117
NM_148919.4(PSMB8):c.660C>T (p.Ser220=)
NM_148919.4(PSMB8):c.672C>T (p.Ala224=) rs2127376198
NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys)
NM_148919.4(PSMB8):c.690G>A (p.Arg230=)
NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu)
NM_148919.4(PSMB8):c.69_147+42del
NM_148919.4(PSMB8):c.6G>C (p.Ala2=)
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn) rs1554238810
NM_148919.4(PSMB8):c.720C>T (p.Ser240=)
NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg) rs2127376068
NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser) rs2127376054
NM_148919.4(PSMB8):c.731G>T (p.Gly244Val) rs200995701
NM_148919.4(PSMB8):c.735T>C (p.Val245=)
NM_148919.4(PSMB8):c.742+15C>T
NM_148919.4(PSMB8):c.743-5C>T
NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp)
NM_148919.4(PSMB8):c.759A>G (p.Glu253=)
NM_148919.4(PSMB8):c.776T>G (p.Val259Gly)
NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs)
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu) rs2127375356
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg) rs1554238585
NM_148919.4(PSMB8):c.801G>T (p.Leu267=)
NM_148919.4(PSMB8):c.807C>A (p.His269Gln)
NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys)
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668
NM_148919.4(PSMB8):c.826C>G (p.Gln276Glu)
NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs)
NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?)
NM_148919.4(PSMB8):c.97T>C (p.Tyr33His)
NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val) rs2127380594
NM_173491.4(LSM11):c.631G>A (p.Gly211Ser) rs2113077087
NM_198282.4(STING1):c.1013del (p.Lys338fs) rs765347385
NM_198282.4(STING1):c.1015G>A (p.Glu339Lys) rs1751660621
NM_198282.4(STING1):c.1021G>C (p.Val341Leu) rs1751660369
NM_198282.4(STING1):c.1025C>A (p.Thr342Asn)
NM_198282.4(STING1):c.1025del (p.Thr342fs) rs1581447916
NM_198282.4(STING1):c.1027G>A (p.Val343Met)
NM_198282.4(STING1):c.1028T>C (p.Val343Ala)
NM_198282.4(STING1):c.102G>C (p.Trp34Cys)
NM_198282.4(STING1):c.1061C>A (p.Thr354Asn)
NM_198282.4(STING1):c.1061C>T (p.Thr354Ile)
NM_198282.4(STING1):c.1065C>A (p.Ser355=)
NM_198282.4(STING1):c.1068G>A (p.Thr356=) rs112829463
NM_198282.4(STING1):c.1077A>G (p.Gln359=)
NM_198282.4(STING1):c.1083T>C (p.Pro361=)
NM_198282.4(STING1):c.1084G>A (p.Glu362Lys)
NM_198282.4(STING1):c.1089C>T (p.Leu363=)
NM_198282.4(STING1):c.109G>A (p.Gly37Arg)
NM_198282.4(STING1):c.1122C>T (p.Leu374=)
NM_198282.4(STING1):c.1124G>A (p.Arg375His) rs117897081
NM_198282.4(STING1):c.1124G>T (p.Arg375Leu) rs117897081
NM_198282.4(STING1):c.1127C>G (p.Thr376Arg) rs370381358
NM_198282.4(STING1):c.1129G>T (p.Asp377Tyr) rs1368968919
NM_198282.4(STING1):c.1139G>A (p.Ter380=) rs1581447677
NM_198282.4(STING1):c.125A>C (p.His42Pro)
NM_198282.4(STING1):c.128C>T (p.Thr43Ile)
NM_198282.4(STING1):c.133C>T (p.Arg45Trp)
NM_198282.4(STING1):c.141G>A (p.Leu47=)
NM_198282.4(STING1):c.141G>C (p.Leu47=) rs1304541029
NM_198282.4(STING1):c.150C>T (p.His50=)
NM_198282.4(STING1):c.170G>T (p.Gly57Val)
NM_198282.4(STING1):c.174_175delinsTT (p.Leu58_Leu59=) rs1581454853
NM_198282.4(STING1):c.178T>C (p.Leu60=) rs1751848779
NM_198282.4(STING1):c.186G>C (p.Gly62=)
NM_198282.4(STING1):c.188T>C (p.Val63Ala)
NM_198282.4(STING1):c.211C>T (p.Arg71Cys)
NM_198282.4(STING1):c.212_213delinsAA (p.Arg71Gln) rs1751847315
NM_198282.4(STING1):c.213C>T (p.Arg71=)
NM_198282.4(STING1):c.216C>T (p.His72=)
NM_198282.4(STING1):c.21T>G (p.His7Gln)
NM_198282.4(STING1):c.220C>T (p.His74Tyr) rs745727679
NM_198282.4(STING1):c.227+11G>T rs2152094431
NM_198282.4(STING1):c.227+18C>A
NM_198282.4(STING1):c.227+1G>A rs1751846731
NM_198282.4(STING1):c.227+4A>G rs2152094440
NM_198282.4(STING1):c.227+9C>G rs945821975
NM_198282.4(STING1):c.228-20_228-14del
NM_198282.4(STING1):c.228-32_228-19del rs759497611
NM_198282.4(STING1):c.228-3C>T rs1751840868
NM_198282.4(STING1):c.233G>C (p.Arg78Pro) rs11554775
NM_198282.4(STING1):c.257G>C (p.Arg86Pro) rs777336363
NM_198282.4(STING1):c.259G>A (p.Ala87Thr)
NM_198282.4(STING1):c.275C>A (p.Pro92His) rs1428188237
NM_198282.4(STING1):c.276C>A (p.Pro92=)
NM_198282.4(STING1):c.276C>T (p.Pro92=)
NM_198282.4(STING1):c.280C>T (p.Arg94Cys)
NM_198282.4(STING1):c.290C>A (p.Ala97Asp)
NM_198282.4(STING1):c.300G>A (p.Leu100=)
NM_198282.4(STING1):c.30C>T (p.Ile10=) rs766292927
NM_198282.4(STING1):c.324C>T (p.Ser108=)
NM_198282.4(STING1):c.325C>T (p.Leu109Phe)
NM_198282.4(STING1):c.330A>T (p.Pro110=)
NM_198282.4(STING1):c.333T>A (p.Asn111Lys)
NM_198282.4(STING1):c.335C>T (p.Ala112Val)
NM_198282.4(STING1):c.343C>T (p.Pro115Ser)
NM_198282.4(STING1):c.345G>T (p.Pro115=)
NM_198282.4(STING1):c.357G>T (p.Trp119Cys)
NM_198282.4(STING1):c.364G>A (p.Ala122Thr)
NM_198282.4(STING1):c.366C>T (p.Ala122=) rs1426349581
NM_198282.4(STING1):c.376C>G (p.Leu126Val)
NM_198282.4(STING1):c.381G>T (p.Ser127=) rs757686770
NM_198282.4(STING1):c.389T>C (p.Leu130Pro)
NM_198282.4(STING1):c.395T>A (p.Ile132Asn)
NM_198282.4(STING1):c.395T>G (p.Ile132Ser) rs1346414429
NM_198282.4(STING1):c.397C>T (p.Leu133Phe) rs2152094323
NM_198282.4(STING1):c.400C>T (p.Leu134=)
NM_198282.4(STING1):c.40del (p.Arg14fs)
NM_198282.4(STING1):c.411+10A>G rs1352670441
NM_198282.4(STING1):c.411+10_411+11del
NM_198282.4(STING1):c.411+10del
NM_198282.4(STING1):c.411+12G>A
NM_198282.4(STING1):c.411+12G>C rs764655300
NM_198282.4(STING1):c.411+12G>T
NM_198282.4(STING1):c.411+15del
NM_198282.4(STING1):c.411+17G>T
NM_198282.4(STING1):c.411+3A>G
NM_198282.4(STING1):c.411G>A (p.Lys137=)
NM_198282.4(STING1):c.412-18A>G
NM_198282.4(STING1):c.412-7T>C
NM_198282.4(STING1):c.412-8G>A rs2152094253
NM_198282.4(STING1):c.428A>C (p.Glu143Ala)
NM_198282.4(STING1):c.42G>A (p.Arg14=)
NM_198282.4(STING1):c.438A>G (p.Ala146=) rs547610764
NM_198282.4(STING1):c.439G>A (p.Val147Met)
NM_198282.4(STING1):c.439G>C (p.Val147Leu) rs587777611
NM_198282.4(STING1):c.44dup (p.His16fs) rs1581455186
NM_198282.4(STING1):c.457T>A (p.Phe153Ile) rs2152094234
NM_198282.4(STING1):c.461A>G (p.Asn154Ser) rs587777609
NM_198282.4(STING1):c.479C>T (p.Ala160Val) rs767904008
NM_198282.4(STING1):c.493A>C (p.Ile165Leu) rs768359336
NM_198282.4(STING1):c.496G>T (p.Gly166Ter)
NM_198282.4(STING1):c.498A>G (p.Gly166=)
NM_198282.4(STING1):c.505C>T (p.Arg169Trp)
NM_198282.4(STING1):c.50G>A (p.Gly17Glu)
NM_198282.4(STING1):c.520+11C>A
NM_198282.4(STING1):c.520+11CT[2]
NM_198282.4(STING1):c.520+15C>T
NM_198282.4(STING1):c.520+19C>T
NM_198282.4(STING1):c.520G>A (p.Glu174Lys)
NM_198282.4(STING1):c.521-10C>T rs2152093643
NM_198282.4(STING1):c.524T>C (p.Leu175Pro)
NM_198282.4(STING1):c.525C>T (p.Leu175=) rs2152093641
NM_198282.4(STING1):c.529G>A (p.Ala177Thr) rs2152093638
NM_198282.4(STING1):c.533G>A (p.Arg178Gln)
NM_198282.4(STING1):c.538C>T (p.Arg180Ter)
NM_198282.4(STING1):c.539G>T (p.Arg180Leu)
NM_198282.4(STING1):c.545A>C (p.Tyr182Ser)
NM_198282.4(STING1):c.551A>T (p.Gln184Leu)
NM_198282.4(STING1):c.565C>T (p.Leu189=) rs2152093625
NM_198282.4(STING1):c.568C>T (p.Leu190=)
NM_198282.4(STING1):c.570A>G (p.Leu190=) rs1228056296
NM_198282.4(STING1):c.579A>G (p.Ala193=)
NM_198282.4(STING1):c.589C>A (p.Arg197=) rs763892914
NM_198282.4(STING1):c.5C>T (p.Pro2Leu)
NM_198282.4(STING1):c.602T>C (p.Leu201Pro) rs1581450494
NM_198282.4(STING1):c.60G>A (p.Lys20=)
NM_198282.4(STING1):c.612G>A (p.Leu204=)
NM_198282.4(STING1):c.614A>G (p.Asp205Gly)
NM_198282.4(STING1):c.616T>G (p.Cys206Gly)
NM_198282.4(STING1):c.61_64del (p.Ala21fs)
NM_198282.4(STING1):c.620G>A (p.Gly207Glu)
NM_198282.4(STING1):c.620G>T (p.Gly207Val)
NM_198282.4(STING1):c.622G>A (p.Val208Met)
NM_198282.4(STING1):c.636G>A (p.Leu212=)
NM_198282.4(STING1):c.658C>T (p.Arg220Cys)
NM_198282.4(STING1):c.659G>T (p.Arg220Leu)
NM_198282.4(STING1):c.65C>A (p.Ala22Asp)
NM_198282.4(STING1):c.661T>C (p.Phe221Leu)
NM_198282.4(STING1):c.664C>T (p.Leu222=)
NM_198282.4(STING1):c.683A>G (p.Gln228Arg)
NM_198282.4(STING1):c.688G>T (p.Gly230Cys)
NM_198282.4(STING1):c.688_689delinsTC (p.Gly230Ser) rs1751724669
NM_198282.4(STING1):c.691G>A (p.Asp231Asn)
NM_198282.4(STING1):c.695_696insGTGACCG (p.His232delinsGlnTer)
NM_198282.4(STING1):c.69G>C (p.Leu23Phe)
NM_198282.4(STING1):c.70G>T (p.Val24Phe)
NM_198282.4(STING1):c.710A>G (p.Asp237Gly) rs1167471683
NM_198282.4(STING1):c.712C>A (p.Arg238=)
NM_198282.4(STING1):c.722G>C (p.Ser241Thr)
NM_198282.4(STING1):c.735T>C (p.Tyr245=)
NM_198282.4(STING1):c.755A>G (p.Gln252Arg)
NM_198282.4(STING1):c.759+15G>A
NM_198282.4(STING1):c.759+15G>T
NM_198282.4(STING1):c.759+19G>A
NM_198282.4(STING1):c.759+3A>G
NM_198282.4(STING1):c.760-16C>T rs2152093389
NM_198282.4(STING1):c.760-2_766delinsTACCT rs2152093375
NM_198282.4(STING1):c.777G>A (p.Leu259=)
NM_198282.4(STING1):c.785C>G (p.Ala262Gly) rs2152093371
NM_198282.4(STING1):c.790C>T (p.Pro264Ser) rs141928874
NM_198282.4(STING1):c.7C>T (p.His3Tyr) rs1490896074
NM_198282.4(STING1):c.804G>C (p.Leu268Phe) rs2152093364
NM_198282.4(STING1):c.808G>A (p.Ala270Thr)
NM_198282.4(STING1):c.80G>C (p.Ser27Thr)
NM_198282.4(STING1):c.816A>G (p.Ser272=)
NM_198282.4(STING1):c.822C>G (p.Tyr274Ter)
NM_198282.4(STING1):c.826C>G (p.Gln276Glu)
NM_198282.4(STING1):c.831T>C (p.Ala277=)
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476
NM_198282.4(STING1):c.844G>A (p.Glu282Lys)
NM_198282.4(STING1):c.845A>G (p.Glu282Gly) rs1483629542
NM_198282.4(STING1):c.846G>A (p.Glu282=) rs1751695966
NM_198282.4(STING1):c.847G>A (p.Asp283Asn)
NM_198282.4(STING1):c.851G>A (p.Arg284Lys)
NM_198282.4(STING1):c.851G>C (p.Arg284Thr)
NM_198282.4(STING1):c.852G>C (p.Arg284Ser)
NM_198282.4(STING1):c.856G>A (p.Glu286Lys)
NM_198282.4(STING1):c.862G>A (p.Ala288Thr)
NM_198282.4(STING1):c.898G>A (p.Ala300Thr)
NM_198282.4(STING1):c.906C>T (p.Ala302=) rs2152093345
NM_198282.4(STING1):c.908C>A (p.Pro303His)
NM_198282.4(STING1):c.908C>T (p.Pro303Leu)
NM_198282.4(STING1):c.91G>T (p.Val31Leu)
NM_198282.4(STING1):c.926G>A (p.Cys309Tyr)
NM_198282.4(STING1):c.92T>C (p.Val31Ala) rs1321304491
NM_198282.4(STING1):c.931C>T (p.Leu311Phe)
NM_198282.4(STING1):c.932T>C (p.Leu311Pro)
NM_198282.4(STING1):c.946+12_946+27del
NM_198282.4(STING1):c.946+17G>A
NM_198282.4(STING1):c.946+19G>A
NM_198282.4(STING1):c.946+19G>T
NM_198282.4(STING1):c.946+1G>A
NM_198282.4(STING1):c.946+5G>A
NM_198282.4(STING1):c.946+5G>T
NM_198282.4(STING1):c.946+6G>A
NM_198282.4(STING1):c.946+6G>C
NM_198282.4(STING1):c.947-19C>T rs1450154806
NM_198282.4(STING1):c.947-20C>G
NM_198282.4(STING1):c.947-3C>T
NM_198282.4(STING1):c.947-9C>T
NM_198282.4(STING1):c.947A>G (p.Glu316Gly)
NM_198282.4(STING1):c.950C>T (p.Pro317Leu)
NM_198282.4(STING1):c.952G>C (p.Ala318Pro)
NM_198282.4(STING1):c.952G>T (p.Ala318Ser) rs1561482019
NM_198282.4(STING1):c.95C>T (p.Thr32Ile)
NM_198282.4(STING1):c.966C>T (p.Ser322=)
NM_198282.4(STING1):c.972G>A (p.Ser324=)
NM_198282.4(STING1):c.979C>A (p.Gln327Lys) rs201015563
NM_198282.4(STING1):c.980A>C (p.Gln327Pro)
NM_198282.4(STING1):c.991C>T (p.Arg331Trp)
NM_198282.4(STING1):c.993G>A (p.Arg331=)
NM_198282.4(STING1):c.996C>T (p.His332=)
NM_198282.4(STING1):c.99T>A (p.Leu33=)
NR_023317.1(RNU7-1):n.23T>G
NR_023317.1(RNU7-1):n.28C>G rs180837208
NR_023317.1(RNU7-1):n.28C>T rs180837208
NR_023317.1(RNU7-1):n.30A>G rs781842057
NR_023317.1(RNU7-1):n.35G>A rs1055698058
NR_023317.1(RNU7-1):n.41T>G rs782444004
NR_023317.1(RNU7-1):n.51C>T rs139594532
NR_023317.1:n.34_50delins25
SKIC3, IVS28AS, G-A, -2
Single allele
USP18, 3-PRIME DEL

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