NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter)
|
rs746384382
|
0.00004
|
NM_033629.6(TREX1):c.416del (p.Ala139fs)
|
rs763229085
|
0.00004
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
|
rs376048533
|
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_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)
|
rs139804668
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp)
|
rs1044845711
|
0.00001
|
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
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.316C>T (p.Arg106Ter)
|
rs779028596
|
0.00001
|
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)
|
rs752442185
|
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.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)
|
rs1300333132
|
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_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter)
|
rs74876702
|
0.00001
|
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)
|
rs75326546
|
0.00001
|
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile)
|
rs79310911
|
0.00001
|
NM_024570.4(RNASEH2B):c.510+1G>A
|
rs77301371
|
0.00001
|
NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter)
|
rs1555257383
|
0.00001
|
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter)
|
rs747399274
|
0.00001
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
NC_000001.10:g.(?_154422067)_(154580482_?)del
|
|
|
NC_000003.11:g.(?_48507870)_(50340407_?)del
|
|
|
NC_000013.10:g.(?_51484213)_(51484296_?)del
|
|
|
NC_000013.10:g.(?_51501523)_(51530610_?)del
|
|
|
NC_000020.10:g.(?_35521335)_(35580046_?)del
|
|
|
NC_000020.10:g.(?_35545115)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35555575)_(35559288_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35563612_?)del
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35575121)_(35580046_?)del
|
|
|
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.36935169_36935190dup
|
|
|
NM_001111.5(ADAR):c.1000del (p.Val333_Leu334insTer)
|
|
|
NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)
|
|
|
NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)
|
|
|
NM_001111.5(ADAR):c.133G>T (p.Glu45Ter)
|
|
|
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter)
|
rs121912421
|
|
NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter)
|
|
|
NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)
|
|
|
NM_001111.5(ADAR):c.1740dup (p.Ser581fs)
|
|
|
NM_001111.5(ADAR):c.2128_2131dup (p.Asn711fs)
|
rs2101619771
|
|
NM_001111.5(ADAR):c.2309del (p.Pro770fs)
|
rs2101589045
|
|
NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter)
|
rs2101588892
|
|
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
|
|
|
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)
|
rs1571065237
|
|
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)
|
|
|
NM_001111.5(ADAR):c.2583del (p.Ser862fs)
|
|
|
NM_001111.5(ADAR):c.271del (p.Arg91fs)
|
|
|
NM_001111.5(ADAR):c.2929_2939dup (p.Met981fs)
|
rs2101576292
|
|
NM_001111.5(ADAR):c.296dup (p.Arg100fs)
|
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111.5(ADAR):c.3040G>T (p.Glu1014Ter)
|
|
|
NM_001111.5(ADAR):c.3125G>A (p.Arg1042His)
|
|
|
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
|
|
|
NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
|
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
NM_001111.5(ADAR):c.3346del (p.Arg1116fs)
|
rs1557863734
|
|
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
|
rs1571046959
|
|
NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter)
|
|
|
NM_001111.5(ADAR):c.344del (p.Gly115fs)
|
rs2101644365
|
|
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)
|
|
|
NM_001111.5(ADAR):c.439del (p.Leu147fs)
|
|
|
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)
|
|
|
NM_001111.5(ADAR):c.649dup (p.Ser217fs)
|
|
|
NM_001111.5(ADAR):c.763C>T (p.Gln255Ter)
|
rs2101641985
|
|
NM_001111.5(ADAR):c.85C>T (p.Gln29Ter)
|
rs2101645916
|
|
NM_001111.5(ADAR):c.929dup (p.Ser311fs)
|
rs2101641171
|
|
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter)
|
rs1322905273
|
|
NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)
|
|
|
NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter)
|
rs753695101
|
|
NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)
|
|
|
NM_006397.3(RNASEH2A):c.263_267dup (p.Gly90fs)
|
|
|
NM_006397.3(RNASEH2A):c.339_343dup (p.Ser115Ter)
|
|
|
NM_006397.3(RNASEH2A):c.346del (p.Leu116fs)
|
|
|
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter)
|
|
|
NM_006397.3(RNASEH2A):c.471dup (p.Pro158fs)
|
|
|
NM_006397.3(RNASEH2A):c.543_544del (p.Ala182fs)
|
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs)
|
rs781284373
|
|
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter)
|
rs2145830181
|
|
NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)
|
|
|
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs)
|
rs752942007
|
|
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer)
|
rs2063478568
|
|
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs)
|
rs2146116814
|
|
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
|
|
|
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
|
|
|
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs)
|
rs2063446897
|
|
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter)
|
rs2148365710
|
|
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
|
|
|
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
|
|
|
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
|
|
|
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
|
|
|
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
|
|
|
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
|
|
|
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter)
|
rs2146160649
|
|
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs)
|
rs2063399418
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs)
|
rs2148360598
|
|
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
|
|
|
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs)
|
rs1568762986
|
|
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer)
|
rs2148359769
|
|
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.1444_1453del (p.Ser482fs)
|
rs2148359722
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
|
|
|
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs)
|
rs2063734182
|
|
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
|
|
|
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
|
|
|
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter)
|
rs1601113209
|
|
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs)
|
rs2148355967
|
|
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
|
|
|
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
|
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter)
|
rs747918559
|
|
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter)
|
rs2146160463
|
|
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
|
|
|
NM_015474.4(SAMHD1):c.328del (p.Ile110fs)
|
rs759706198
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs)
|
rs2063594580
|
|
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
|
|
|
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
|
|
|
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs)
|
rs1601144527
|
|
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
|
|
|
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs)
|
rs1328663348
|
|
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
|
|
|
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
|
|
|
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT
|
rs2146131738
|
|
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs)
|
rs2146127824
|
|
NM_015474.4(SAMHD1):c.66del (p.Ser23fs)
|
rs1442728513
|
|
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter)
|
rs2063541685
|
|
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter)
|
rs1219206348
|
|
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)
|
rs750807433
|
|
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
|
|
|
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
|
|
|
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
|
|
|
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
|
|
|
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
|
|
|
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter)
|
rs752962934
|
|
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
|
|
|
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
|
|
|
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
|
|
|
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter)
|
rs2063480012
|
|
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
|
|
|
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
|
|
|
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)
|
rs587777445
|
|
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.2936T>G (p.Leu979Trp)
|
rs1553696482
|
|
NM_024570.4(RNASEH2B):c.121del (p.Val41fs)
|
rs1452451283
|
|
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs)
|
rs2137925083
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)
|
rs2137952274
|
|
NM_024570.4(RNASEH2B):c.476del (p.Ser159fs)
|
rs2137982729
|
|
NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)
|
|
|
NM_024570.4(RNASEH2B):c.4del (p.Ala2fs)
|
rs2137866137
|
|
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs)
|
rs1085307091
|
|
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)
|
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024570.4(RNASEH2B):c.63del (p.Glu22fs)
|
rs2137866660
|
|
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)
|
|
|
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)
|
|
|
NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)
|
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
|
rs1354160835
|
|
NM_033629.6(TREX1):c.130del (p.Leu44fs)
|
|
|
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
|
|
|
NM_033629.6(TREX1):c.144del (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.150_151del (p.Gln51fs)
|
rs770607110
|
|
NM_033629.6(TREX1):c.153_166del (p.Gln51fs)
|
rs2107256093
|
|
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
|
|
|
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
|
|
|
NM_033629.6(TREX1):c.212_213del (p.Val71fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
|
|
|
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.294_296dup (p.Cys99Ter)
|
|
|
NM_033629.6(TREX1):c.294dup (p.Cys99fs)
|
rs760594164
|
|
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs)
|
rs763966000
|
|
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
|
|
|
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
|
|
|
NM_033629.6(TREX1):c.371_381del (p.His124fs)
|
|
|
NM_033629.6(TREX1):c.399dup (p.Leu134fs)
|
rs2107258834
|
|
NM_033629.6(TREX1):c.513del (p.His171fs)
|
|
|
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
|
|
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NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
|
rs121908117
|
|
NM_033629.6(TREX1):c.55dup (p.Met19fs)
|
|
|
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
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|
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NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)
|
rs78846775
|
|
NM_033629.6(TREX1):c.5del (p.Gly2fs)
|
rs2107254550
|
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NM_033629.6(TREX1):c.621_622del (p.Ile207fs)
|
rs781199890
|
|
NM_033629.6(TREX1):c.635del (p.Pro212fs)
|
rs756664985
|
|
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
|
|
|
NM_033629.6(TREX1):c.703dup (p.Val235fs)
|
rs1553820434
|
|
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
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|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
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