NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)
|
rs369359789
|
0.00022
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_014639.4(SKIC3):c.642+1G>A
|
rs538894487
|
0.00008
|
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val)
|
rs765219776
|
0.00006
|
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)
|
rs770689762
|
0.00004
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00004
|
NM_033629.6(TREX1):c.416del (p.Ala139fs)
|
rs763229085
|
0.00004
|
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)
|
rs781050795
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter)
|
rs759511516
|
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_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)
|
rs768503878
|
0.00002
|
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter)
|
rs373796916
|
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_022168.4(IFIH1):c.1852C>T (p.Arg618Ter)
|
rs745937740
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr)
|
rs374974565
|
0.00001
|
NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys)
|
rs747774101
|
0.00001
|
NM_001611.5(ACP5):c.791T>A (p.Met264Lys)
|
rs387906670
|
0.00001
|
NM_006397.3(RNASEH2A):c.323+1G>T
|
rs1388246689
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys)
|
rs750250320
|
0.00001
|
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp)
|
rs769075304
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
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.625G>A (p.Gly209Ser)
|
rs121434516
|
0.00001
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)
|
rs1335417539
|
0.00001
|
NM_024570.4(RNASEH2B):c.437-1G>A
|
rs777313709
|
0.00001
|
NM_024570.4(RNASEH2B):c.65-13G>A
|
rs1176797481
|
0.00001
|
NM_024570.4(RNASEH2B):c.698+1G>A
|
rs367915667
|
0.00001
|
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu)
|
rs76091978
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)
|
rs760838030
|
0.00001
|
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
|
|
|
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
|
|
|
NC_000006.11:g.(?_32810848)_(32811339_?)del
|
|
|
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
|
|
|
NC_000020.10:g.(?_35532550)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35539601)_(35547942_?)dup
|
|
|
NC_000020.10:g.(?_35555565)_(35555675_?)dup
|
|
|
NC_000020.10:g.(?_35559143)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)dup
|
|
|
NC_000020.10:g.(?_35569432)_(35569524_?)dup
|
|
|
NC_000020.11:g.(?_36927172)_(36927262_?)dup
|
|
|
NC_000020.11:g.(?_36930750)_(36930885_?)dup
|
|
|
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)
|
rs969498121
|
|
NM_001111.5(ADAR):c.1602-2A>G
|
|
|
NM_001111.5(ADAR):c.1786-1G>C
|
|
|
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr)
|
rs398122893
|
|
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)
|
rs398122897
|
|
NM_001111.5(ADAR):c.2675G>A (p.Arg892His)
|
rs398122892
|
|
NM_001111.5(ADAR):c.2763-1G>A
|
|
|
NM_001111.5(ADAR):c.2763-2A>G
|
rs2101579172
|
|
NM_001111.5(ADAR):c.2886-1del
|
rs1696896431
|
|
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn)
|
rs398122896
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile)
|
rs1553207540
|
|
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)
|
rs2101563488
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
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.3363dup (p.Lys1122Ter)
|
rs1571046959
|
|
NM_001111.5(ADAR):c.3364A>C (p.Lys1122Gln)
|
|
|
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs)
|
rs1571110158
|
|
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter)
|
rs2101642015
|
|
NM_001282225.2(ADA2):c.-47+2T>C
|
|
|
NM_001282225.2(ADA2):c.1081+1G>T
|
rs1300843648
|
|
NM_001282225.2(ADA2):c.1082-2A>G
|
|
|
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)
|
rs1489114116
|
|
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)
|
rs1226708979
|
|
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp)
|
rs748893301
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001282225.2(ADA2):c.1447A>C (p.Ser483Arg)
|
|
|
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs)
|
rs1601419986
|
|
NM_001282225.2(ADA2):c.1471_1472dup (p.Asn491fs)
|
|
|
NM_001282225.2(ADA2):c.322+2T>A
|
|
|
NM_001282225.2(ADA2):c.323-2A>G
|
|
|
NM_001282225.2(ADA2):c.334C>T (p.His112Tyr)
|
rs773226219
|
|
NM_001282225.2(ADA2):c.369G>A (p.Trp123Ter)
|
|
|
NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys)
|
rs772909795
|
|
NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro)
|
|
|
NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro)
|
rs752890414
|
|
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs)
|
rs766602945
|
|
NM_001282225.2(ADA2):c.754-2A>G
|
rs2062118599
|
|
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu)
|
rs865858930
|
|
NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp)
|
|
|
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)
|
rs878853218
|
|
NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)
|
|
|
NM_004371.4(COPA):c.1742T>A (p.Leu581Gln)
|
|
|
NM_004371.4(COPA):c.715G>C (p.Ala239Pro)
|
rs1557868211
|
|
NM_004371.4(COPA):c.725T>C (p.Val242Ala)
|
rs2101847465
|
|
NM_006397.3(RNASEH2A):c.127+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)
|
rs373301983
|
|
NM_006397.3(RNASEH2A):c.199+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.200-1G>T
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu)
|
rs2145824951
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.323+1G>A
|
rs1388246689
|
|
NM_006397.3(RNASEH2A):c.549+1G>A
|
|
|
NM_006397.3(RNASEH2A):c.549+1G>T
|
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006397.3(RNASEH2A):c.638-2A>G
|
rs2145830162
|
|
NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)
|
|
|
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs)
|
rs1403542725
|
|
NM_006929.5(SKIC2):c.1065-2A>G
|
|
|
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
|
|
|
NM_006929.5(SKIC2):c.1404-2A>G
|
rs1772611373
|
|
NM_006929.5(SKIC2):c.1637del (p.Gly546fs)
|
rs1772636752
|
|
NM_006929.5(SKIC2):c.1647+1G>A
|
rs1772638226
|
|
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
|
|
|
NM_006929.5(SKIC2):c.2203-1G>A
|
|
|
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_007248.3(TREX1):c.1033_1050del
|
rs1575295176
|
|
NM_014314.4(RIGI):c.1529A>T (p.Glu510Val)
|
rs1587586052
|
|
NM_014639.4(SKIC3):c.1134+1G>T
|
rs2112344385
|
|
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
|
|
|
NM_014639.4(SKIC3):c.1221+1G>C
|
rs200085753
|
|
NM_014639.4(SKIC3):c.1757+1G>A
|
rs570910902
|
|
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.231G>A (p.Trp77Ter)
|
rs755681347
|
|
NM_014639.4(SKIC3):c.2387del (p.Thr796fs)
|
|
|
NM_014639.4(SKIC3):c.2578-7_2578-3del
|
rs746874042
|
|
NM_014639.4(SKIC3):c.2778+2T>G
|
|
|
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter)
|
rs2112308481
|
|
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.3635del (p.Lys1212fs)
|
|
|
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs)
|
rs2112260281
|
|
NM_014639.4(SKIC3):c.4070del (p.Pro1357fs)
|
rs1582849807
|
|
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.53_54del (p.Arg18fs)
|
|
|
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter)
|
rs1580193741
|
|
NM_014639.4(SKIC3):c.828del (p.Ile276fs)
|
rs766378178
|
|
NM_015474.4(SAMHD1):c.1271-1G>C
|
|
|
NM_015474.4(SAMHD1):c.1271-2A>C
|
|
|
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
|
|
|
NM_015474.4(SAMHD1):c.1410+1G>A
|
|
|
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015474.4(SAMHD1):c.1608+1G>A
|
rs373731440
|
|
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=)
|
rs1990238054
|
|
NM_015474.4(SAMHD1):c.1609-2A>G
|
rs1700306908
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.349-1G>A
|
rs1251155562
|
|
NM_015474.4(SAMHD1):c.349-2A>T
|
rs2146137671
|
|
NM_015474.4(SAMHD1):c.625+1G>A
|
rs1601141002
|
|
NM_015474.4(SAMHD1):c.626-1G>C
|
rs2146127849
|
|
NM_015474.4(SAMHD1):c.696+2T>C
|
|
|
NM_015474.4(SAMHD1):c.697-1G>T
|
rs2146119643
|
|
NM_015474.4(SAMHD1):c.697-2A>G
|
|
|
NM_015474.4(SAMHD1):c.852+1G>A
|
|
|
NM_015474.4(SAMHD1):c.852+1G>T
|
rs780504624
|
|
NM_015474.4(SAMHD1):c.853-1G>C
|
|
|
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
|
|
|
NM_015474.4(SAMHD1):c.953+1G>A
|
rs2146117027
|
|
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
|
|
|
NM_017414.4(USP18):c.1073+1G>A
|
rs1602534094
|
|
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)
|
rs1085307118
|
|
NM_017414.4(USP18):c.891+1G>T
|
|
|
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)
|
rs587777449
|
|
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
|
|
|
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn)
|
rs1320095792
|
|
NM_022168.4(IFIH1):c.2304+1G>T
|
rs762865950
|
|
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr)
|
rs1576222807
|
|
NM_022168.4(IFIH1):c.2465G>C (p.Arg822Pro)
|
|
|
NM_022168.4(IFIH1):c.2472A>C (p.Arg824Ser)
|
|
|
NM_022168.4(IFIH1):c.454-1G>A
|
|
|
NM_022168.4(IFIH1):c.716dup (p.Met240fs)
|
rs1558875029
|
|
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
|
rs923064561
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)
|
rs75325951
|
|
NM_024570.4(RNASEH2B):c.245-2A>C
|
|
|
NM_024570.4(RNASEH2B):c.245-2A>G
|
|
|
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)
|
rs1457494794
|
|
NM_024570.4(RNASEH2B):c.322-2A>T
|
|
|
NM_024570.4(RNASEH2B):c.322-3C>G
|
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024570.4(RNASEH2B):c.436+1G>A
|
rs80087649
|
|
NM_024570.4(RNASEH2B):c.510+1del
|
rs1593470515
|
|
NM_024570.4(RNASEH2B):c.511-1G>A
|
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
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NM_024570.4(RNASEH2B):c.617-2A>G
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NM_024570.4(RNASEH2B):c.64+2_64+6del
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NM_024570.4(RNASEH2B):c.65-1G>A
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NM_024570.4(RNASEH2B):c.698+1G>C
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NM_024570.4(RNASEH2B):c.742-1_742delinsAC
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NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
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rs772940104
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NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
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rs78635798
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NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met)
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rs772757667
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NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser)
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rs77834781
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NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)
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rs1064793942
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NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
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rs1354160835
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NM_033629.6(TREX1):c.137dup (p.Ser46fs)
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rs2107255865
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NM_033629.6(TREX1):c.143_144del (p.Pro48fs)
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rs748914604
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NM_033629.6(TREX1):c.144dup (p.Thr49fs)
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rs748914604
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NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
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rs777034646
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NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
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rs74689946
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NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)
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rs1331920811
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NM_033629.6(TREX1):c.23dup (p.Pro10fs)
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rs781731683
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NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
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NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)
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rs781051771
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NM_033629.6(TREX1):c.397del (p.Leu133fs)
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rs78762691
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|
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
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|
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NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
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NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
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rs74556809
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NM_033629.6(TREX1):c.621_622del (p.Ile207fs)
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rs781199890
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NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)
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rs757478752
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NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del)
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rs2107255387
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NM_033629.6(TREX1):c.814del (p.Asp272fs)
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rs2107265386
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NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)
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rs1553820518
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NM_033629.6(TREX1):c.858dup (p.Leu287fs)
|
rs2107265977
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NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
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rs79318303
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NM_138425.3(C12orf57):c.-277A>G
|
rs781842057
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NM_138425.3(C12orf57):c.-279C>G
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rs180837208
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NM_148919.4(PSMB8):c.69_147+42del
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NM_198282.4(STING1):c.614A>G (p.Asp205Gly)
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NM_198282.4(STING1):c.616T>G (p.Cys206Gly)
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NM_198282.4(STING1):c.842G>A (p.Arg281Gln)
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rs1561482476
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