ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome by Invitae

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2271
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met) rs141049110 0.00053
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
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_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln) rs150713148 0.00039
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn) rs201190805 0.00029
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862 0.00021
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_006397.3(RNASEH2A):c.653C>T (p.Ala218Val) rs112503877 0.00013
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg) rs760066036 0.00013
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) rs551573692 0.00013
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 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.3401A>G (p.Tyr1134Cys) rs150284449 0.00011
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln) rs988134864 0.00011
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471 0.00010
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln) rs770044946 0.00010
NM_001111.5(ADAR):c.2762+6C>T rs371450928 0.00009
NM_001111.5(ADAR):c.865G>A (p.Asp289Asn) rs372242904 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys) rs199896513 0.00009
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His) rs147891080 0.00009
NM_022168.4(IFIH1):c.454-1G>T rs148590996 0.00009
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln) rs138649673 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_024570.4(RNASEH2B):c.250C>G (p.Leu84Val) rs143523027 0.00008
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val) rs145783593 0.00008
NM_006397.3(RNASEH2A):c.455G>A (p.Arg152Gln) rs757486362 0.00007
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr) rs763103642 0.00007
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.2275G>A (p.Val759Ile) rs145849344 0.00006
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln) rs371476324 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.838C>T (p.Arg280Cys) rs375883546 0.00006
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys) rs764614950 0.00006
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) rs202165710 0.00006
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 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_024570.4(RNASEH2B):c.244+3A>G rs371461579 0.00006
NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu) rs1340493334 0.00006
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382 0.00006
NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg) rs749003546 0.00006
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 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_001111.5(ADAR):c.1400G>A (p.Arg467His) rs192121167 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.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met) rs370225385 0.00005
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) rs148540097 0.00005
NM_022168.4(IFIH1):c.283A>G (p.Met95Val) rs777534095 0.00005
NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu) rs190327832 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) rs201496629 0.00005
NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln) rs149091481 0.00004
NM_001111.5(ADAR):c.1177A>G (p.Asn393Asp) rs751288252 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.1559A>C (p.Glu520Ala) rs916828871 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.2314G>A (p.Val772Ile) rs763229776 0.00004
NM_001111.5(ADAR):c.2407G>T (p.Gly803Cys) rs1277475981 0.00004
NM_001111.5(ADAR):c.3201G>A (p.Leu1067=) rs750105086 0.00004
NM_001111.5(ADAR):c.935A>T (p.Asp312Val) rs200192885 0.00004
NM_006397.3(RNASEH2A):c.175G>C (p.Asp59His) rs766343269 0.00004
NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=) rs767723275 0.00004
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu) rs369355807 0.00004
NM_006397.3(RNASEH2A):c.638-3C>T rs780614048 0.00004
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile) rs145323435 0.00004
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=) rs767971429 0.00004
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu) rs35207787 0.00004
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala) rs747135877 0.00004
NM_022168.4(IFIH1):c.1641+4T>C rs931264780 0.00004
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn) rs749942019 0.00004
NM_022168.4(IFIH1):c.2183G>A (p.Arg728Gln) rs1266522773 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.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_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.35G>A (p.Gly12Asp) rs1237024427 0.00004
NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937 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.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.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.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_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.2207G>A (p.Arg736His) rs147800502 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.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.643G>A (p.Gly215Ser) rs751532191 0.00003
NM_001111.5(ADAR):c.746C>T (p.Ser249Leu) rs750380232 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.715C>T (p.Arg239Cys) rs372667206 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.752A>G (p.Asp251Gly) rs768983249 0.00003
NM_006397.3(RNASEH2A):c.779A>G (p.Glu260Gly) rs770898096 0.00003
NM_006397.3(RNASEH2A):c.866T>G (p.Leu289Arg) rs745764952 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00003
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563 0.00003
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp) rs202019609 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.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.2447del (p.Met816fs) rs1349369420 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.63G>T (p.Arg21Ser) rs553228814 0.00003
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter) rs74162079 0.00003
NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile) rs1292841062 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.914A>C (p.Asn305Thr) rs768415436 0.00003
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00003
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) rs757909936 0.00003
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766 0.00003
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) rs55691060 0.00003
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys) rs745707260 0.00003
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) rs748145509 0.00003
NM_001111.5(ADAR):c.1565A>C (p.Asn522Thr) rs766604638 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+5G>A rs17843866 0.00002
NM_001111.5(ADAR):c.185C>T (p.Pro62Leu) rs754467673 0.00002
NM_001111.5(ADAR):c.217C>G (p.Pro73Ala) rs894373560 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.2584T>G (p.Ser862Ala) rs776268194 0.00002
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu) rs373564780 0.00002
NM_001111.5(ADAR):c.3082G>A (p.Gly1028Arg) rs1236873184 0.00002
NM_001111.5(ADAR):c.341G>A (p.Arg114His) rs770167108 0.00002
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile) rs747418036 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.59A>G (p.Tyr20Cys) rs754158375 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_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.488C>T (p.Thr163Met) rs1046057251 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.871C>T (p.Arg291Cys) rs771858022 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.443A>G (p.Lys148Arg) rs761306482 0.00002
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys) rs747675634 0.00002
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu) rs367921237 0.00002
NM_022168.4(IFIH1):c.1382A>G (p.Tyr461Cys) rs746897113 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_022168.4(IFIH1):c.2027T>A (p.Leu676His) rs745474856 0.00002
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser) rs774309855 0.00002
NM_022168.4(IFIH1):c.2305-13A>G rs758206522 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.413G>A (p.Cys138Tyr) rs774361518 0.00002
NM_022168.4(IFIH1):c.736G>T (p.Glu246Ter) rs373854773 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.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_032193.4(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.348+6C>T rs779293116 0.00002
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) rs921270646 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.628T>C (p.Trp210Arg) rs770775387 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270 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.1097A>G (p.Lys366Arg) rs770795921 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.1315A>G (p.Asn439Asp) rs1040011158 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.1457G>T (p.Gly486Val) rs1275238356 0.00001
NM_001111.5(ADAR):c.1556G>A (p.Cys519Tyr) rs1404371210 0.00001
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly) rs374014885 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.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.2042A>G (p.His681Arg) rs762924757 0.00001
NM_001111.5(ADAR):c.2077C>G (p.Gln693Glu) rs121912423 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.2263G>A (p.Glu755Lys) rs758150130 0.00001
NM_001111.5(ADAR):c.2283A>G (p.Gln761=) rs186310208 0.00001
NM_001111.5(ADAR):c.2320G>A (p.Ala774Thr) rs368419418 0.00001
NM_001111.5(ADAR):c.2368C>T (p.Arg790Cys) rs1429411421 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.2632T>C (p.Ser878Pro) rs1261780777 0.00001
NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr) rs1424630296 0.00001
NM_001111.5(ADAR):c.2804C>T (p.Ala935Val) rs767879893 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.302G>C (p.Ser101Thr) rs763972905 0.00001
NM_001111.5(ADAR):c.3040G>C (p.Glu1014Gln) rs965662260 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.31G>A (p.Gly11Arg) rs747039563 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.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+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.3514C>T (p.Arg1172Cys) rs752914135 0.00001
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His) rs866441514 0.00001
NM_001111.5(ADAR):c.3568C>T (p.Arg1190Cys) rs979532140 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.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.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.754G>T (p.Ala252Ser) rs1354088100 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.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_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.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+5G>T rs1969004135 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.284T>C (p.Val95Ala) rs754727728 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.411+3G>C rs749477709 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.550G>A (p.Val184Met) rs777679893 0.00001
NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala) rs1039519462 0.00001
NM_006397.3(RNASEH2A):c.569T>G (p.Val190Gly) rs1969055468 0.00001
NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly) rs1489973272 0.00001
NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val) rs768625813 0.00001
NM_006397.3(RNASEH2A):c.682T>C (p.Phe228Leu) rs1220751647 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.778G>A (p.Glu260Lys) rs749242017 0.00001
NM_006397.3(RNASEH2A):c.800A>T (p.Lys267Met) rs1337243889 0.00001
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr) rs369098182 0.00001
NM_006397.3(RNASEH2A):c.828_831dup (p.Gln278fs) rs780583621 0.00001
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His) rs756346898 0.00001
NM_006397.3(RNASEH2A):c.844C>T (p.Arg282Cys) rs142642923 0.00001
NM_006397.3(RNASEH2A):c.851C>T (p.Ser284Phe) rs1474678539 0.00001
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His) rs201250022 0.00001
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg) rs2063734567 0.00001
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp) rs1232169509 0.00001
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser) rs1273114275 0.00001
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys) rs761561066 0.00001
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp) rs773888401 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.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.1258A>T (p.Thr420Ser) rs754153159 0.00001
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser) rs1233436073 0.00001
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr) rs1311797673 0.00001
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly) rs145360072 0.00001
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser) rs886645360 0.00001
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly) rs747437917 0.00001
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala) rs770504610 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.173G>A (p.Gly58Asp) rs1568788278 0.00001
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu) rs752755786 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.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.290G>A (p.Arg97Lys) rs758586131 0.00001
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly) rs1235922763 0.00001
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys) rs1306109528 0.00001
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr) rs1455837248 0.00001
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln) rs781223072 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.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.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_022168.4(IFIH1):c.1031A>G (p.Lys344Arg) rs1682930814 0.00001
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter) rs768448518 0.00001
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 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.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.1294G>T (p.Val432Phe) rs1353805115 0.00001
NM_022168.4(IFIH1):c.1363A>G (p.Asn455Asp) rs772981550 0.00001
NM_022168.4(IFIH1):c.1376G>A (p.Arg459Lys) rs1031540879 0.00001
NM_022168.4(IFIH1):c.1429C>T (p.Pro477Ser) rs1416059394 0.00001
NM_022168.4(IFIH1):c.1525-1G>A rs774035953 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.1574T>C (p.Leu525Pro) rs1390303966 0.00001
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala) rs1683546841 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+2T>C rs747781178 0.00001
NM_022168.4(IFIH1):c.1672A>G (p.Met558Val) rs756286361 0.00001
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile) rs776280813 0.00001
NM_022168.4(IFIH1):c.1765+1G>A rs1292220162 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.1889A>G (p.Tyr630Cys) rs775623826 0.00001
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr) rs376940981 0.00001
NM_022168.4(IFIH1):c.1958A>G (p.Tyr653Cys) rs1213233883 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.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.2242G>A (p.Gly748Arg) rs764553894 0.00001
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn) rs1649189149 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.2398G>T (p.Glu800Ter) rs1444920926 0.00001
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile) rs763479773 0.00001
NM_022168.4(IFIH1):c.2448G>A (p.Met816Ile) rs569872801 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.25G>A (p.Glu9Lys) rs375179358 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.2684A>T (p.His895Leu) rs948646167 0.00001
NM_022168.4(IFIH1):c.2690A>G (p.Lys897Arg) rs772381153 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.2750G>A (p.Gly917Glu) rs1690961624 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.2780A>G (p.His927Arg) rs747311719 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.2862T>G (p.Tyr954Ter) rs750063177 0.00001
NM_022168.4(IFIH1):c.2898+5G>C rs958493507 0.00001
NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser) rs931567064 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.481G>A (p.Glu161Lys) rs1018886793 0.00001
NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter) rs1455983191 0.00001
NM_022168.4(IFIH1):c.524A>T (p.Glu175Val) rs759418219 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.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.683C>T (p.Thr228Ile) rs746288754 0.00001
NM_022168.4(IFIH1):c.755C>A (p.Ser252Tyr) rs370138586 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_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.146C>T (p.Ala49Val) rs1951648776 0.00001
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg) rs759251667 0.00001
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe) rs1262454987 0.00001
NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val) rs761380890 0.00001
NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu) rs999474934 0.00001
NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382 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.4G>C (p.Ala2Pro) rs1161853513 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+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.659T>C (p.Ile220Thr) rs747995413 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.902T>C (p.Phe301Ser) rs780504013 0.00001
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr) rs542600186 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.151G>A (p.Ala51Thr) rs912731829 0.00001
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu) rs1310807864 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.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.463G>A (p.Ala155Thr) rs757866333 0.00001
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr) rs759118175 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.98C>T (p.Pro33Leu) rs11557810 0.00001
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) rs765715997 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.284A>G (p.His95Arg) rs368972486 0.00001
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) rs763817243 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.382C>T (p.Arg128Cys) rs199614534 0.00001
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) rs200510205 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.500G>A (p.Ser167Asn) rs200309956 0.00001
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) rs759481016 0.00001
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) rs1479030388 0.00001
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) rs1176739791 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.647T>C (p.Leu216Pro) rs142082672 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.833A>T (p.Asp278Val) rs2040383072 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.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
NC_000001.10:g.(?_154557262)_(154557840_?)dup
NC_000001.10:g.(?_154569261)_(154571081_?)dup
NC_000002.11:g.(?_163123710)_(163174817_?)del
NC_000002.11:g.(?_163123710)_(163174817_?)dup
NC_000002.11:g.(?_163128716)_(163134858_?)del
NC_000002.11:g.(?_163128856)_(163131721_?)del
NC_000002.11:g.(?_163163199)_(163163385_?)del
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000011.10:g.65720153_65720165del
NC_000011.9:g.(?_64973914)_(70052579_?)dup
NC_000011.9:g.(?_65325080)_(65639825_?)del
NC_000013.10:g.(?_51528021)_(51530610_?)del
NC_000013.11:g.(?_50953885)_(50956494_?)del
NC_000013.11:g.50929475_50929477del
NC_000019.9:g.(?_12917488)_(13010355_?)dup
NC_000019.9:g.(?_12923877)_(12924280_?)del
NC_000019.9:g.(?_12923877)_(12924280_?)dup
NC_000020.10:g.(?_35521335)_(35526967_?)dup
NC_000020.10:g.(?_35521335)_(35540975_?)dup
NC_000020.10:g.(?_35521335)_(35563612_?)dup
NC_000020.10:g.(?_35526205)_(35580046_?)dup
NC_000020.10:g.(?_35539601)_(35580066_?)dup
NC_000020.10:g.(?_35545105)_(35547942_?)del
NC_000020.10:g.(?_35547747)_(35547942_?)del
NC_000020.10:g.(?_35559143)_(35575227_?)dup
NC_000020.10:g.(?_35563412)_(35569534_?)del
NC_000020.10:g.(?_35563412)_(35580046_?)dup
NC_000020.10:g.(?_35569422)_(36500415_?)dup
NC_000020.11:g.(?_36892912)_(36898564_?)dup
NC_000020.11:g.36904246CCT[1]
NM_001111.5(ADAR):c.1000C>G (p.Leu334Val) rs1697885743
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1009A>G (p.Met337Val)
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.1051C>T (p.Pro351Ser) rs1557886901
NM_001111.5(ADAR):c.1055T>C (p.Ile352Thr)
NM_001111.5(ADAR):c.1056A>G (p.Ile352Met)
NM_001111.5(ADAR):c.1063T>A (p.Leu355Met)
NM_001111.5(ADAR):c.1072AAG[1] (p.Lys359del)
NM_001111.5(ADAR):c.1073A>G (p.Lys358Arg)
NM_001111.5(ADAR):c.107C>T (p.Pro36Leu)
NM_001111.5(ADAR):c.1081G>A (p.Glu361Lys)
NM_001111.5(ADAR):c.1085G>A (p.Arg362Lys) rs2101640193
NM_001111.5(ADAR):c.1089G>A (p.Met363Ile) rs1697874197
NM_001111.5(ADAR):c.1099A>G (p.Arg367Gly)
NM_001111.5(ADAR):c.1103A>G (p.Asn368Ser)
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1106C>G (p.Thr369Arg) rs958924655
NM_001111.5(ADAR):c.1106C>T (p.Thr369Met) rs958924655
NM_001111.5(ADAR):c.1108A>G (p.Asn370Asp)
NM_001111.5(ADAR):c.110G>T (p.Ser37Ile)
NM_001111.5(ADAR):c.1110C>G (p.Asn370Lys) rs1222101959
NM_001111.5(ADAR):c.1112G>A (p.Ser371Asn)
NM_001111.5(ADAR):c.1126G>A (p.Ala376Thr)
NM_001111.5(ADAR):c.1126G>T (p.Ala376Ser)
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala) rs1571107810
NM_001111.5(ADAR):c.112A>T (p.Ser38Cys)
NM_001111.5(ADAR):c.1132G>T (p.Ala378Ser)
NM_001111.5(ADAR):c.1138A>G (p.Ile380Val)
NM_001111.5(ADAR):c.1146G>C (p.Glu382Asp)
NM_001111.5(ADAR):c.1154G>A (p.Arg385Lys)
NM_001111.5(ADAR):c.115T>G (p.Phe39Val) rs1697956017
NM_001111.5(ADAR):c.1163A>G (p.Glu388Gly)
NM_001111.5(ADAR):c.1168C>T (p.Leu390Phe)
NM_001111.5(ADAR):c.116T>G (p.Phe39Cys)
NM_001111.5(ADAR):c.1171A>G (p.Thr391Ala)
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.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.1232A>C (p.Asn411Thr)
NM_001111.5(ADAR):c.1241A>C (p.Glu414Ala)
NM_001111.5(ADAR):c.1246G>A (p.Val416Ile)
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe) rs1697861504
NM_001111.5(ADAR):c.1267C>G (p.Gln423Glu) rs1697861124
NM_001111.5(ADAR):c.1274C>T (p.Ala425Val)
NM_001111.5(ADAR):c.127C>G (p.Gln43Glu) rs1697954006
NM_001111.5(ADAR):c.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.1327A>G (p.Lys443Glu) rs1697857226
NM_001111.5(ADAR):c.134A>T (p.Glu45Val)
NM_001111.5(ADAR):c.1370A>G (p.Asp457Gly)
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.142A>G (p.Lys48Glu)
NM_001111.5(ADAR):c.1437G>T (p.Met479Ile) rs2101638407
NM_001111.5(ADAR):c.1445T>C (p.Phe482Ser)
NM_001111.5(ADAR):c.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>T (p.Ser491Leu)
NM_001111.5(ADAR):c.1475C>T (p.Pro492Leu) rs1697847597
NM_001111.5(ADAR):c.1478A>G (p.Tyr493Cys) rs1697847223
NM_001111.5(ADAR):c.1480A>G (p.Lys494Glu) rs2101638093
NM_001111.5(ADAR):c.1490C>T (p.Thr497Ile)
NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)
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.1526T>C (p.Leu509Ser) rs1697844160
NM_001111.5(ADAR):c.1534G>A (p.Ala512Thr) rs2101637881
NM_001111.5(ADAR):c.1543G>A (p.Ala515Thr) rs200830156
NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn) rs1457807318
NM_001111.5(ADAR):c.1565A>G (p.Asn522Ser)
NM_001111.5(ADAR):c.1569G>A (p.Met523Ile)
NM_001111.5(ADAR):c.1570A>G (p.Ile524Val)
NM_001111.5(ADAR):c.1577A>G (p.Gln526Arg) rs770224427
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg) rs1571096481
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.1660A>G (p.Lys554Glu)
NM_001111.5(ADAR):c.1667T>C (p.Val556Ala)
NM_001111.5(ADAR):c.1679A>T (p.Asp560Val)
NM_001111.5(ADAR):c.1681G>A (p.Ala561Thr)
NM_001111.5(ADAR):c.1687A>C (p.Met563Leu)
NM_001111.5(ADAR):c.1687A>G (p.Met563Val)
NM_001111.5(ADAR):c.1696A>T (p.Met566Leu) rs777616553
NM_001111.5(ADAR):c.1700C>A (p.Thr567Lys) rs1205545887
NM_001111.5(ADAR):c.1700C>G (p.Thr567Arg)
NM_001111.5(ADAR):c.1705C>G (p.Leu569Val)
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.1749ATC[1] (p.Ser585del) rs17843870
NM_001111.5(ADAR):c.1754C>T (p.Ser585Phe)
NM_001111.5(ADAR):c.1757A>G (p.His586Arg)
NM_001111.5(ADAR):c.1760A>C (p.Tyr587Ser)
NM_001111.5(ADAR):c.1760A>T (p.Tyr587Phe) rs17843865
NM_001111.5(ADAR):c.1768G>C (p.Glu590Gln) rs772602893
NM_001111.5(ADAR):c.1774G>A (p.Glu592Lys)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+3A>G
NM_001111.5(ADAR):c.1785+4G>A rs1571095587
NM_001111.5(ADAR):c.1785G>A (p.Lys595=)
NM_001111.5(ADAR):c.1795_1806del (p.Ser599_Pro602del)
NM_001111.5(ADAR):c.17G>C (p.Gly6Ala)
NM_001111.5(ADAR):c.1820C>T (p.Thr607Ile)
NM_001111.5(ADAR):c.1824CTT[1] (p.Phe610del) rs759833046
NM_001111.5(ADAR):c.1825T>C (p.Phe609Leu)
NM_001111.5(ADAR):c.1826T>C (p.Phe609Ser)
NM_001111.5(ADAR):c.1833T>A (p.Ser611=)
NM_001111.5(ADAR):c.1835G>A (p.Gly612Glu)
NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn) rs766823464
NM_001111.5(ADAR):c.1846G>T (p.Val616Phe) rs570647049
NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr) rs776484151
NM_001111.5(ADAR):c.1871A>G (p.His624Arg) rs1423795702
NM_001111.5(ADAR):c.1874A>G (p.Lys625Arg)
NM_001111.5(ADAR):c.1888T>C (p.Cys630Arg)
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys) rs756241513
NM_001111.5(ADAR):c.1897C>G (p.Arg633Gly) rs1222149445
NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg) rs886045341
NM_001111.5(ADAR):c.1912G>C (p.Glu638Gln)
NM_001111.5(ADAR):c.1916G>T (p.Gly639Val) rs979268518
NM_001111.5(ADAR):c.1924C>T (p.His642Tyr)
NM_001111.5(ADAR):c.1925A>G (p.His642Arg)
NM_001111.5(ADAR):c.1934+4T>C
NM_001111.5(ADAR):c.1934+8C>G
NM_001111.5(ADAR):c.1944C>T (p.Tyr648=)
NM_001111.5(ADAR):c.1946G>A (p.Cys649Tyr)
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.1993A>C (p.Lys665Gln)
NM_001111.5(ADAR):c.1999G>A (p.Val667Met)
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.2018C>A (p.Ala673Glu) rs2101620970
NM_001111.5(ADAR):c.2026G>A (p.Ala676Thr) rs2101620927
NM_001111.5(ADAR):c.202C>G (p.Leu68Val) rs1280361409
NM_001111.5(ADAR):c.2030T>C (p.Met677Thr)
NM_001111.5(ADAR):c.2034G>C (p.Lys678Asn)
NM_001111.5(ADAR):c.2035G>A (p.Ala679Thr)
NM_001111.5(ADAR):c.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.2080-11T>G
NM_001111.5(ADAR):c.2080-3T>C rs372190707
NM_001111.5(ADAR):c.2080-6C>T
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.2108A>C (p.Asp703Ala) rs2101619884
NM_001111.5(ADAR):c.2112C>G (p.Asn704Lys)
NM_001111.5(ADAR):c.2115G>C (p.Leu705Phe)
NM_001111.5(ADAR):c.2122A>C (p.Met708Leu) rs548493468
NM_001111.5(ADAR):c.2130CAA[1] (p.Asn711del)
NM_001111.5(ADAR):c.2131A>C (p.Asn711His) rs2101619763
NM_001111.5(ADAR):c.214C>T (p.Arg72Trp)
NM_001111.5(ADAR):c.2156T>C (p.Leu719Pro)
NM_001111.5(ADAR):c.2158G>A (p.Val720Met)
NM_001111.5(ADAR):c.2158G>C (p.Val720Leu) rs759837017
NM_001111.5(ADAR):c.2179C>T (p.Pro727Ser) rs2101619511
NM_001111.5(ADAR):c.2191C>G (p.Leu731Val)
NM_001111.5(ADAR):c.2199G>T (p.Glu733Asp)
NM_001111.5(ADAR):c.2203G>A (p.Ala735Thr) rs2101619399
NM_001111.5(ADAR):c.2213A>G (p.His738Arg)
NM_001111.5(ADAR):c.2216G>A (p.Gly739Asp) rs2101619310
NM_001111.5(ADAR):c.221G>A (p.Arg74Lys)
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr) rs2101619298
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2270A>G (p.Lys757Arg) rs1159795340
NM_001111.5(ADAR):c.227C>T (p.Pro76Leu) rs1181329844
NM_001111.5(ADAR):c.2282A>T (p.Gln761Leu)
NM_001111.5(ADAR):c.229G>A (p.Val77Ile)
NM_001111.5(ADAR):c.22T>A (p.Ser8Thr)
NM_001111.5(ADAR):c.2302T>C (p.Trp768Arg) rs1697065372
NM_001111.5(ADAR):c.2306T>A (p.Phe769Tyr)
NM_001111.5(ADAR):c.2321C>T (p.Ala774Val)
NM_001111.5(ADAR):c.232C>G (p.Leu78Val)
NM_001111.5(ADAR):c.2359G>A (p.Ala787Thr)
NM_001111.5(ADAR):c.2376G>T (p.Leu792Phe)
NM_001111.5(ADAR):c.2378T>C (p.Ile793Thr)
NM_001111.5(ADAR):c.2384A>G (p.Glu795Gly)
NM_001111.5(ADAR):c.2388C>A (p.Asn796Lys) rs1251582638
NM_001111.5(ADAR):c.2388C>G (p.Asn796Lys)
NM_001111.5(ADAR):c.2398G>A (p.Glu800Lys)
NM_001111.5(ADAR):c.2399A>G (p.Glu800Gly) rs1697057806
NM_001111.5(ADAR):c.2401C>G (p.Arg801Gly)
NM_001111.5(ADAR):c.2401C>T (p.Arg801Cys)
NM_001111.5(ADAR):c.2402G>A (p.Arg801His) rs1697057369
NM_001111.5(ADAR):c.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.2453C>G (p.Thr818Ser) rs2101588346
NM_001111.5(ADAR):c.2458CTC[2] (p.Leu822del)
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.2497-3C>T
NM_001111.5(ADAR):c.2501C>T (p.Pro834Leu)
NM_001111.5(ADAR):c.2509G>A (p.Gly837Ser)
NM_001111.5(ADAR):c.2513G>C (p.Ser838Thr) rs2101585930
NM_001111.5(ADAR):c.2524G>C (p.Asp842His) rs2101585854
NM_001111.5(ADAR):c.2536A>G (p.Met846Val)
NM_001111.5(ADAR):c.2554T>G (p.Phe852Val) rs2101585739
NM_001111.5(ADAR):c.2563C>G (p.Leu855Val)
NM_001111.5(ADAR):c.258G>C (p.Arg86Ser)
NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys)
NM_001111.5(ADAR):c.2597G>A (p.Arg866His) rs770937947
NM_001111.5(ADAR):c.2612C>T (p.Ala871Val) rs748430309
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.2643G>C (p.Met881Ile)
NM_001111.5(ADAR):c.2650G>A (p.Val884Ile)
NM_001111.5(ADAR):c.2653G>A (p.Val885Ile)
NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)
NM_001111.5(ADAR):c.2668+4A>G rs2101584990
NM_001111.5(ADAR):c.2668+6T>G
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
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.2720A>G (p.Asn907Ser) rs1696974967
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly)
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.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.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.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.2824C>T (p.Pro942Ser) rs1054969472
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln) rs373564780
NM_001111.5(ADAR):c.2832G>T (p.Lys944Asn)
NM_001111.5(ADAR):c.283A>G (p.Arg95Gly)
NM_001111.5(ADAR):c.2840A>C (p.Glu947Ala)
NM_001111.5(ADAR):c.2842A>G (p.Lys948Glu) rs2101578630
NM_001111.5(ADAR):c.2872C>T (p.His958Tyr)
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.2893C>T (p.Pro965Ser)
NM_001111.5(ADAR):c.2894C>T (p.Pro965Leu)
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.2926_2928del (p.Cys976del) rs2101576453
NM_001111.5(ADAR):c.292C>T (p.His98Tyr)
NM_001111.5(ADAR):c.2939C>T (p.Ala980Val)
NM_001111.5(ADAR):c.293A>G (p.His98Arg)
NM_001111.5(ADAR):c.2941A>G (p.Met981Val)
NM_001111.5(ADAR):c.2945A>C (p.Glu982Ala)
NM_001111.5(ADAR):c.2951C>G (p.Thr984Arg)
NM_001111.5(ADAR):c.2954A>G (p.Glu985Gly)
NM_001111.5(ADAR):c.2957C>T (p.Ser986Phe) rs777129140
NM_001111.5(ADAR):c.2959C>T (p.Arg987Cys)
NM_001111.5(ADAR):c.2963A>G (p.His988Arg)
NM_001111.5(ADAR):c.2966A>G (p.Tyr989Cys)
NM_001111.5(ADAR):c.298_299delinsGC (p.Arg100Ala)
NM_001111.5(ADAR):c.3001C>T (p.Arg1001Cys)
NM_001111.5(ADAR):c.3002G>A (p.Arg1001His) rs1571058184
NM_001111.5(ADAR):c.3007A>G (p.Lys1003Glu)
NM_001111.5(ADAR):c.3019+4A>G rs2101575711
NM_001111.5(ADAR):c.3020-10T>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>G (p.Ser101Arg)
NM_001111.5(ADAR):c.3049G>A (p.Asp1017Asn)
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.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.3076C>T (p.Arg1026Trp)
NM_001111.5(ADAR):c.3077G>A (p.Arg1026Gln)
NM_001111.5(ADAR):c.308G>A (p.Gly103Glu)
NM_001111.5(ADAR):c.3092T>G (p.Leu1031Arg) rs2101566565
NM_001111.5(ADAR):c.3094_3095delinsTA (p.Arg1032Tyr) rs2101566531
NM_001111.5(ADAR):c.3101T>C (p.Met1034Thr) rs2101566489
NM_001111.5(ADAR):c.3107G>A (p.Cys1036Tyr) rs761590986
NM_001111.5(ADAR):c.3116A>C (p.Lys1039Thr)
NM_001111.5(ADAR):c.3116A>G (p.Lys1039Arg)
NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys) rs779004315
NM_001111.5(ADAR):c.3152C>G (p.Ala1051Gly)
NM_001111.5(ADAR):c.3168C>G (p.Phe1056Leu)
NM_001111.5(ADAR):c.3188A>G (p.Lys1063Arg)
NM_001111.5(ADAR):c.3202+6G>A
NM_001111.5(ADAR):c.320G>A (p.Gly107Glu)
NM_001111.5(ADAR):c.320G>T (p.Gly107Val)
NM_001111.5(ADAR):c.3223C>T (p.His1075Tyr) rs2101563703
NM_001111.5(ADAR):c.3230C>A (p.Thr1077Asn)
NM_001111.5(ADAR):c.3233G>A (p.Arg1078His)
NM_001111.5(ADAR):c.3233G>C (p.Arg1078Pro)
NM_001111.5(ADAR):c.3248G>A (p.Arg1083His) rs1363826622
NM_001111.5(ADAR):c.3278A>G (p.Asp1093Gly) rs1696719202
NM_001111.5(ADAR):c.3279T>G (p.Asp1093Glu)
NM_001111.5(ADAR):c.3286C>G (p.Arg1096Gly) rs769148365
NM_001111.5(ADAR):c.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.3315+6A>C
NM_001111.5(ADAR):c.3331A>G (p.Ile1111Val) rs536100209
NM_001111.5(ADAR):c.3334T>C (p.Tyr1112His)
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.335C>T (p.Ser112Leu)
NM_001111.5(ADAR):c.3360G>C (p.Lys1120Asn) rs1696677352
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.3404A>G (p.Asp1135Gly)
NM_001111.5(ADAR):c.3421G>A (p.Gly1141Ser)
NM_001111.5(ADAR):c.3430G>A (p.Gly1144Ser)
NM_001111.5(ADAR):c.3443+3A>T rs746915200
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.3452A>G (p.Asn1151Ser)
NM_001111.5(ADAR):c.3454G>A (p.Glu1152Lys)
NM_001111.5(ADAR):c.3464G>A (p.Arg1155Gln) rs1304875258
NM_001111.5(ADAR):c.3466G>A (p.Val1156Ile)
NM_001111.5(ADAR):c.3467T>C (p.Val1156Ala)
NM_001111.5(ADAR):c.3471C>T (p.Ser1157=)
NM_001111.5(ADAR):c.3476del (p.Lys1159fs)
NM_001111.5(ADAR):c.3487C>T (p.Leu1163Phe)
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.3509C>T (p.Ser1170Phe) rs1696650377
NM_001111.5(ADAR):c.3516_3519del (p.Tyr1173fs)
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.3566C>T (p.Ala1189Val)
NM_001111.5(ADAR):c.3568C>G (p.Arg1190Gly) rs979532140
NM_001111.5(ADAR):c.3569G>A (p.Arg1190His) rs1302098873
NM_001111.5(ADAR):c.3571G>C (p.Asp1191His)
NM_001111.5(ADAR):c.3574T>G (p.Tyr1192Asp)
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.3598A>C (p.Lys1200Gln) rs2101556953
NM_001111.5(ADAR):c.3599A>G (p.Lys1200Arg)
NM_001111.5(ADAR):c.35A>C (p.Tyr12Ser) rs1475258937
NM_001111.5(ADAR):c.3605G>C (p.Gly1202Ala)
NM_001111.5(ADAR):c.3605G>T (p.Gly1202Val)
NM_001111.5(ADAR):c.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.3641A>G (p.Lys1214Arg)
NM_001111.5(ADAR):c.3647A>G (p.Gln1216Arg)
NM_001111.5(ADAR):c.3657G>T (p.Lys1219Asn) rs2101556653
NM_001111.5(ADAR):c.365G>A (p.Gly122Asp)
NM_001111.5(ADAR):c.3665A>C (p.Tyr1222Ser)
NM_001111.5(ADAR):c.3673C>G (p.Pro1225Ala)
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.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.44A>C (p.His15Pro) rs1697961105
NM_001111.5(ADAR):c.452G>A (p.Gly151Glu)
NM_001111.5(ADAR):c.470C>T (p.Thr157Ile)
NM_001111.5(ADAR):c.475C>G (p.His159Asp) rs921496664
NM_001111.5(ADAR):c.478G>C (p.Asp160His)
NM_001111.5(ADAR):c.487G>T (p.Gly163Trp) rs762094056
NM_001111.5(ADAR):c.494T>A (p.Leu165His) rs1697924081
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.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.559A>G (p.Lys187Glu) rs1697919383
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.599C>G (p.Ser200Cys)
NM_001111.5(ADAR):c.605A>G (p.Gln202Arg)
NM_001111.5(ADAR):c.615C>A (p.Asn205Lys) rs770367924
NM_001111.5(ADAR):c.621C>G (p.His207Gln)
NM_001111.5(ADAR):c.622A>G (p.Ser208Gly)
NM_001111.5(ADAR):c.629T>A (p.Val210Glu)
NM_001111.5(ADAR):c.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.651C>G (p.Ser217Arg)
NM_001111.5(ADAR):c.658G>A (p.Ala220Thr)
NM_001111.5(ADAR):c.658_804del (p.Ala220_Gly268del)
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.670G>A (p.Asp224Asn)
NM_001111.5(ADAR):c.672C>A (p.Asp224Glu)
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.694A>G (p.Arg232Gly)
NM_001111.5(ADAR):c.701C>A (p.Ser234Tyr) rs769223848
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.749C>T (p.Ala250Val)
NM_001111.5(ADAR):c.769A>C (p.Ser257Arg)
NM_001111.5(ADAR):c.771C>G (p.Ser257Arg)
NM_001111.5(ADAR):c.779T>A (p.Val260Glu)
NM_001111.5(ADAR):c.785C>T (p.Pro262Leu)
NM_001111.5(ADAR):c.790A>G (p.Ser264Gly) rs1451687174
NM_001111.5(ADAR):c.792T>G (p.Ser264Arg)
NM_001111.5(ADAR):c.7C>G (p.Pro3Ala) rs1313399962
NM_001111.5(ADAR):c.7C>T (p.Pro3Ser) rs1313399962
NM_001111.5(ADAR):c.805T>G (p.Ser269Ala)
NM_001111.5(ADAR):c.811A>G (p.Asn271Asp) rs1223076895
NM_001111.5(ADAR):c.823G>T (p.Gly275Cys) rs867384981
NM_001111.5(ADAR):c.824G>A (p.Gly275Asp)
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly) rs1557887436
NM_001111.5(ADAR):c.851C>T (p.Thr284Ile)
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.89C>G (p.Pro30Arg) rs2101645907
NM_001111.5(ADAR):c.906A>T (p.Lys302Asn)
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.931T>A (p.Ser311Thr) rs1697893231
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.968G>A (p.Gly323Asp)
NM_001111.5(ADAR):c.988A>G (p.Ile330Val) rs2101640846
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu) rs1571113228
NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys) rs2145824177
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His) rs1968997110
NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu) rs2145824200
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg) rs1792077195
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg) rs1252576410
NM_006397.3(RNASEH2A):c.128G>T (p.Gly43Val) rs755133697
NM_006397.3(RNASEH2A):c.146_148dup (p.Ile49_Cys50insPhe) rs2145824522
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val) rs771789854
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.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.181_189del (p.Glu61_Leu63del) rs1969003682
NM_006397.3(RNASEH2A):c.196G>T (p.Ala66Ser) rs2145824584
NM_006397.3(RNASEH2A):c.199+12G>T
NM_006397.3(RNASEH2A):c.199+9G>T
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
NM_006397.3(RNASEH2A):c.217G>A (p.Glu73Lys)
NM_006397.3(RNASEH2A):c.219G>C (p.Glu73Asp) rs754532258
NM_006397.3(RNASEH2A):c.222C>A (p.Ser74Arg)
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.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.268G>A (p.Gly90Ser) rs773318256
NM_006397.3(RNASEH2A):c.268G>T (p.Gly90Cys)
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
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.323G>A (p.Arg108Gln) rs1232764867
NM_006397.3(RNASEH2A):c.323G>C (p.Arg108Pro)
NM_006397.3(RNASEH2A):c.325G>A (p.Val109Ile)
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met) rs1969010870
NM_006397.3(RNASEH2A):c.359C>T (p.Thr120Ile)
NM_006397.3(RNASEH2A):c.373A>C (p.Ile125Leu) rs1969011556
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+14A>G
NM_006397.3(RNASEH2A):c.412G>A (p.Val138Ile)
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.441G>T (p.Glu147Asp) rs772640456
NM_006397.3(RNASEH2A):c.445T>C (p.Tyr149His)
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His) rs1968995083
NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys) rs1262482666
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.549+4A>G
NM_006397.3(RNASEH2A):c.566C>A (p.Ala189Asp) rs1448707577
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala) rs1969055468
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg) rs748699424
NM_006397.3(RNASEH2A):c.586G>A (p.Val196Met)
NM_006397.3(RNASEH2A):c.592A>G (p.Lys198Glu) rs2145827897
NM_006397.3(RNASEH2A):c.611C>A (p.Thr204Asn)
NM_006397.3(RNASEH2A):c.611C>T (p.Thr204Ile)
NM_006397.3(RNASEH2A):c.613G>T (p.Asp205Tyr) rs965949988
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg) rs1568387884
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+3G>A rs1399243066
NM_006397.3(RNASEH2A):c.665A>T (p.Glu222Val)
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu) rs1321788478
NM_006397.3(RNASEH2A):c.701T>G (p.Val234Gly)
NM_006397.3(RNASEH2A):c.705del (p.Phe236fs)
NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)
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.762-14C>G rs1297237306
NM_006397.3(RNASEH2A):c.764A>C (p.Glu255Ala)
NM_006397.3(RNASEH2A):c.773C>T (p.Ala258Val)
NM_006397.3(RNASEH2A):c.791G>A (p.Gly264Glu)
NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)
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.848C>G (p.Ser283Cys)
NM_006397.3(RNASEH2A):c.854A>C (p.His285Pro)
NM_006397.3(RNASEH2A):c.856C>T (p.Arg286Ter) rs1286615636
NM_006397.3(RNASEH2A):c.857G>T (p.Arg286Leu)
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs) rs1969104623
NM_006397.3(RNASEH2A):c.869A>T (p.Glu290Val) rs1425963270
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu) rs75037667
NM_006397.3(RNASEH2A):c.874G>C (p.Gly292Arg)
NM_006397.3(RNASEH2A):c.881A>G (p.Glu294Gly) rs2145830589
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr) rs1438193575
NM_006397.3(RNASEH2A):c.884C>T (p.Ser295Leu) rs1969105528
NM_006397.3(RNASEH2A):c.886G>A (p.Ala296Thr) rs1243574081
NM_006397.3(RNASEH2A):c.889A>G (p.Thr297Ala) rs775006544
NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu) rs2146116896
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu) rs2063734567
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp) rs751026561
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)
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.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.1111C>T (p.Arg371Cys) rs774991764
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1154+4A>T
NM_015474.4(SAMHD1):c.1155-7T>G rs563734052
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile) rs2063439054
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu) rs1338752164
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val) rs755673943
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.1216A>C (p.Lys406Gln)
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr) rs2063734469
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)
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.1265T>A (p.Leu422Gln)
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)
NM_015474.4(SAMHD1):c.1271-3C>T
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile) rs2148360629
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr) rs1215408383
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu) rs751309562
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])
NM_015474.4(SAMHD1):c.1410+4A>C
NM_015474.4(SAMHD1):c.1410+5G>T rs1601119476
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile) rs2148359709
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro) rs2063392360
NM_015474.4(SAMHD1):c.1503+3A>C
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr) rs1990240962
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu) rs1363652608
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.1565G>A (p.Cys522Tyr) rs1046544176
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)
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.1603A>T (p.Asn535Tyr) rs2148355943
NM_015474.4(SAMHD1):c.1608+6T>A rs747508625
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys) rs2148355589
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp) rs1442543580
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys) rs2148355563
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly) rs769234037
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu) rs1252711773
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
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.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.1739A>G (p.Lys580Arg) rs1255928710
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)
NM_015474.4(SAMHD1):c.1746+4G>A
NM_015474.4(SAMHD1):c.1746+4_1746+15del rs1568758975
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp) rs2148352252
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter) rs1990117713
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn) rs1245985032
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser) rs2146160495
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr) rs2148352114
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg) rs2146160474
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser) rs2063733948
NM_015474.4(SAMHD1):c.208+4G>A rs1273248542
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr) rs141599277
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg) rs149797357
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.274A>G (p.Ser92Gly)
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala) rs1277922979
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys) rs923362391
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
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.397G>A (p.Val133Ile)
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly) rs752442185
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg) rs775844501
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr) rs200703816
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile) rs2146137354
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu) rs2063564236
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln) rs2146132117
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)
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.56C>G (p.Pro19Arg) rs1308458054
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu) rs1303667371
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup) rs758547160
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val) rs1568776699
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
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.644A>C (p.His215Pro) rs772029258
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser) rs2146127793
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser) rs1235181942
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu) rs1601138159
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys) rs778647626
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu) rs753391551
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
NM_015474.4(SAMHD1):c.696+5G>A rs1468637736
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp) rs2146160848
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp) rs1239766590
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser) rs2146160814
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.815T>C (p.Ile272Thr)
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu) rs2063492690
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala) rs2146119399
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=) rs2146119382
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.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.94T>C (p.Trp32Arg)
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)
NM_022168.4(IFIH1):c.1001G>T (p.Gly334Val) rs2105208967
NM_022168.4(IFIH1):c.1013T>C (p.Val338Ala)
NM_022168.4(IFIH1):c.1024A>G (p.Ile342Val)
NM_022168.4(IFIH1):c.103C>G (p.Leu35Val)
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met) rs72650664
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr) rs762847175
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys) rs887114201
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter) rs887114201
NM_022168.4(IFIH1):c.1069G>A (p.Gly357Arg)
NM_022168.4(IFIH1):c.1070G>A (p.Gly357Glu)
NM_022168.4(IFIH1):c.1075G>C (p.Val359Leu)
NM_022168.4(IFIH1):c.1075G>T (p.Val359Phe)
NM_022168.4(IFIH1):c.1081G>A (p.Val361Ile)
NM_022168.4(IFIH1):c.1084C>G (p.Leu362Val)
NM_022168.4(IFIH1):c.1085T>C (p.Leu362Pro)
NM_022168.4(IFIH1):c.1091A>G (p.Asn364Ser) rs1410059196
NM_022168.4(IFIH1):c.1095+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.1099C>G (p.Leu367Val)
NM_022168.4(IFIH1):c.1114C>G (p.Leu372Val) rs587777576
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.1133A>G (p.Gln378Arg) rs1682830281
NM_022168.4(IFIH1):c.1150T>C (p.Trp384Arg)
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.1169T>G (p.Leu390Ter) rs2105203236
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp) rs1304955037
NM_022168.4(IFIH1):c.1181C>A (p.Thr394Asn)
NM_022168.4(IFIH1):c.1191A>G (p.Lys397=) rs1682828092
NM_022168.4(IFIH1):c.1194A>G (p.Ile398Met)
NM_022168.4(IFIH1):c.1196C>G (p.Ser399Ter) rs772585139
NM_022168.4(IFIH1):c.1200T>A (p.Phe400Leu)
NM_022168.4(IFIH1):c.1207G>A (p.Val403Ile)
NM_022168.4(IFIH1):c.1208T>C (p.Val403Ala)
NM_022168.4(IFIH1):c.1211T>C (p.Val404Ala) rs111797285
NM_022168.4(IFIH1):c.1220G>A (p.Cys407Tyr)
NM_022168.4(IFIH1):c.1229T>C (p.Ile410Thr) rs746025085
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr) rs1682827216
NM_022168.4(IFIH1):c.1238C>T (p.Thr413Ile)
NM_022168.4(IFIH1):c.1250T>A (p.Leu417His)
NM_022168.4(IFIH1):c.1261C>T (p.Leu421Phe)
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.1303T>A (p.Ser435Thr) rs1682826089
NM_022168.4(IFIH1):c.1306+6T>C rs2105202990
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.1324A>G (p.Ile442Val)
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.1353A>C (p.Glu451Asp) rs764763183
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu) rs147642994
NM_022168.4(IFIH1):c.1368C>G (p.Asn456Lys) rs1682808224
NM_022168.4(IFIH1):c.1378_1379inv (p.His460Cys)
NM_022168.4(IFIH1):c.1380T>A (p.His460Gln)
NM_022168.4(IFIH1):c.1384T>G (p.Leu462Val) rs2105201962
NM_022168.4(IFIH1):c.1387A>T (p.Met463Leu) rs1247355630
NM_022168.4(IFIH1):c.1388T>G (p.Met463Arg)
NM_022168.4(IFIH1):c.138T>G (p.Ile46Met)
NM_022168.4(IFIH1):c.1405A>G (p.Asn469Asp)
NM_022168.4(IFIH1):c.1406A>G (p.Asn469Ser)
NM_022168.4(IFIH1):c.1407_1417del (p.Asn469fs)
NM_022168.4(IFIH1):c.1419del (p.Glu474fs) rs2105201912
NM_022168.4(IFIH1):c.1431_1439del (p.Val478_Pro480del)
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met) rs1018712289
NM_022168.4(IFIH1):c.1439C>A (p.Pro480His) rs753401995
NM_022168.4(IFIH1):c.1449G>C (p.Gln483His)
NM_022168.4(IFIH1):c.1457G>A (p.Gly486Glu)
NM_022168.4(IFIH1):c.1463C>G (p.Thr488Arg)
NM_022168.4(IFIH1):c.1471C>T (p.Pro491Ser)
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp) rs1474848285
NM_022168.4(IFIH1):c.1480G>A (p.Gly494Arg) rs1682805179
NM_022168.4(IFIH1):c.1483G>C (p.Gly495Arg)
NM_022168.4(IFIH1):c.1484G>C (p.Gly495Ala)
NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp)
NM_022168.4(IFIH1):c.148G>T (p.Val50Phe)
NM_022168.4(IFIH1):c.1499C>G (p.Ala500Gly)
NM_022168.4(IFIH1):c.149T>G (p.Val50Gly)
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser) rs1485039163
NM_022168.4(IFIH1):c.14A>G (p.Tyr5Cys)
NM_022168.4(IFIH1):c.14_15del (p.Tyr5fs)
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys) rs772032662
NM_022168.4(IFIH1):c.1513C>T (p.His505Tyr)
NM_022168.4(IFIH1):c.1515C>G (p.His505Gln) rs147738489
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.1524+1G>T rs898118498
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.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.1550C>T (p.Thr517Ile) rs2105200508
NM_022168.4(IFIH1):c.1555A>C (p.Lys519Gln)
NM_022168.4(IFIH1):c.1562T>C (p.Val521Ala) rs2105200485
NM_022168.4(IFIH1):c.1567G>C (p.Glu523Gln)
NM_022168.4(IFIH1):c.1572C>A (p.Asn524Lys)
NM_022168.4(IFIH1):c.1579C>A (p.Gln527Lys)
NM_022168.4(IFIH1):c.1583T>C (p.Leu528Pro)
NM_022168.4(IFIH1):c.1592A>G (p.Gln531Arg)
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr) rs764183171
NM_022168.4(IFIH1):c.1603C>T (p.Pro535Ser) rs764183171
NM_022168.4(IFIH1):c.1616T>C (p.Phe539Ser)
NM_022168.4(IFIH1):c.1627G>T (p.Asp543Tyr)
NM_022168.4(IFIH1):c.1628A>G (p.Asp543Gly)
NM_022168.4(IFIH1):c.162del (p.Asn55fs)
NM_022168.4(IFIH1):c.1641+16T>A
NM_022168.4(IFIH1):c.1641+1G>A
NM_022168.4(IFIH1):c.1641+3A>G
NM_022168.4(IFIH1):c.1642-1G>A rs1682743875
NM_022168.4(IFIH1):c.1650T>A (p.Phe550Leu)
NM_022168.4(IFIH1):c.1652A>C (p.Lys551Thr)
NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs)
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys) rs1193030860
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys) rs111732322
NM_022168.4(IFIH1):c.1674G>A (p.Met558Ile)
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro) rs752832328
NM_022168.4(IFIH1):c.1679G>A (p.Arg560Lys)
NM_022168.4(IFIH1):c.1687A>T (p.Thr563Ser) rs2105198654
NM_022168.4(IFIH1):c.1689_1690del (p.Tyr564fs) rs1464362256
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1724C>T (p.Thr575Ile)
NM_022168.4(IFIH1):c.1726C>T (p.Gln576Ter) rs2105198568
NM_022168.4(IFIH1):c.1744G>A (p.Ala582Thr)
NM_022168.4(IFIH1):c.1751A>T (p.Gln584Leu)
NM_022168.4(IFIH1):c.1762A>C (p.Lys588Gln)
NM_022168.4(IFIH1):c.1764del (p.Ala589fs) rs553669430
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.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.1774G>A (p.Glu592Lys)
NM_022168.4(IFIH1):c.1783C>A (p.Arg595Ser)
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys) rs191839015
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.1801G>A (p.Ala601Thr)
NM_022168.4(IFIH1):c.1808A>G (p.His603Arg)
NM_022168.4(IFIH1):c.1818G>C (p.Lys606Asn) rs2105197801
NM_022168.4(IFIH1):c.1819T>C (p.Tyr607His)
NM_022168.4(IFIH1):c.1822_1824del (p.Asn608del)
NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)
NM_022168.4(IFIH1):c.1829C>A (p.Ala610Asp)
NM_022168.4(IFIH1):c.1837A>G (p.Ile613Val) rs1235926337
NM_022168.4(IFIH1):c.1844A>G (p.Asp615Gly)
NM_022168.4(IFIH1):c.1846A>C (p.Thr616Pro)
NM_022168.4(IFIH1):c.1847C>T (p.Thr616Ile)
NM_022168.4(IFIH1):c.1861G>T (p.Asp621Tyr)
NM_022168.4(IFIH1):c.1862A>T (p.Asp621Val)
NM_022168.4(IFIH1):c.1864G>A (p.Ala622Thr)
NM_022168.4(IFIH1):c.1865C>A (p.Ala622Glu)
NM_022168.4(IFIH1):c.1876C>G (p.Leu626Val)
NM_022168.4(IFIH1):c.1885T>C (p.Phe629Leu) rs145818112
NM_022168.4(IFIH1):c.1894G>A (p.Glu632Lys)
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile) rs1682719356
NM_022168.4(IFIH1):c.1922_1923del (p.Ile641fs) rs2105197614
NM_022168.4(IFIH1):c.1928A>T (p.Asp643Val)
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.1962T>G (p.Cys654Trp) rs1682717892
NM_022168.4(IFIH1):c.1976A>C (p.Asp659Ala) rs2105197504
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn) rs2105197482
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>G (p.Pro666Ala)
NM_022168.4(IFIH1):c.199G>C (p.Glu67Gln) rs2105238398
NM_022168.4(IFIH1):c.19A>G (p.Thr7Ala)
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.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.2030T>C (p.Met677Thr) rs1268091953
NM_022168.4(IFIH1):c.2037_2042dup (p.Phe680_Phe681insLeuPhe)
NM_022168.4(IFIH1):c.2044+12A>G
NM_022168.4(IFIH1):c.2045-1G>T rs748813106
NM_022168.4(IFIH1):c.2046A>C (p.Glu682Asp)
NM_022168.4(IFIH1):c.2056A>G (p.Met686Val)
NM_022168.4(IFIH1):c.2061G>T (p.Leu687Phe)
NM_022168.4(IFIH1):c.2066G>A (p.Arg689Lys)
NM_022168.4(IFIH1):c.2068del (p.Leu690fs)
NM_022168.4(IFIH1):c.2072C>A (p.Ala691Asp)
NM_022168.4(IFIH1):c.2072C>T (p.Ala691Val)
NM_022168.4(IFIH1):c.2092_2304+447del
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer) rs1682679223
NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln)
NM_022168.4(IFIH1):c.2111dup (p.Leu704fs)
NM_022168.4(IFIH1):c.2113A>G (p.Arg705Gly)
NM_022168.4(IFIH1):c.2120C>A (p.Thr707Asn) rs2105196747
NM_022168.4(IFIH1):c.2127G>A (p.Met709Ile)
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
NM_022168.4(IFIH1):c.2150A>G (p.Glu717Gly)
NM_022168.4(IFIH1):c.2152T>C (p.Ser718Pro) rs2105196679
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>T (p.Arg720Leu)
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg) rs2105196666
NM_022168.4(IFIH1):c.216C>A (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.216C>G (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn) rs375745122
NM_022168.4(IFIH1):c.2189G>C (p.Ser730Thr)
NM_022168.4(IFIH1):c.2191G>A (p.Ala731Thr)
NM_022168.4(IFIH1):c.2196T>A (p.Tyr732Ter)
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
NM_022168.4(IFIH1):c.2203T>G (p.Ser735Ala) rs1268036060
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg) rs1683544639
NM_022168.4(IFIH1):c.2212A>G (p.Ile738Val)
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) rs745948096
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp) rs765738865
NM_022168.4(IFIH1):c.2223T>A (p.Asn741Lys)
NM_022168.4(IFIH1):c.2231T>G (p.Phe744Cys)
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.226A>T (p.Thr76Ser) rs957068367
NM_022168.4(IFIH1):c.2277C>A (p.His759Gln)
NM_022168.4(IFIH1):c.227C>T (p.Thr76Ile)
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.2300C>T (p.Thr767Ile) rs2105196465
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2304G>A (p.Gln768=)
NM_022168.4(IFIH1):c.2305-3C>T rs2105193842
NM_022168.4(IFIH1):c.230G>C (p.Arg77Pro) rs367851471
NM_022168.4(IFIH1):c.2315AAG[1] (p.Glu773del)
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.2339C>G (p.Thr780Ser)
NM_022168.4(IFIH1):c.2345A>G (p.Lys782Arg) rs2105193747
NM_022168.4(IFIH1):c.2351A>G (p.Asn784Ser)
NM_022168.4(IFIH1):c.2372T>C (p.Val791Ala) rs2105193712
NM_022168.4(IFIH1):c.238G>A (p.Val80Met)
NM_022168.4(IFIH1):c.2400A>C (p.Glu800Asp)
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2407A>C (p.Ile803Leu)
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr) rs778884536
NM_022168.4(IFIH1):c.2413A>G (p.Ile805Val)
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe) rs1691095136
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.2426T>C (p.Leu809Pro)
NM_022168.4(IFIH1):c.2429T>A (p.Val810Asp)
NM_022168.4(IFIH1):c.242A>C (p.Glu81Ala) rs1168844368
NM_022168.4(IFIH1):c.2443G>A (p.Ala815Thr)
NM_022168.4(IFIH1):c.2449G>A (p.Val817Ile)
NM_022168.4(IFIH1):c.2454+1G>T rs778780074
NM_022168.4(IFIH1):c.2454+4C>A
NM_022168.4(IFIH1):c.2454+4C>G
NM_022168.4(IFIH1):c.2454+6T>G
NM_022168.4(IFIH1):c.2454G>A (p.Gln818=)
NM_022168.4(IFIH1):c.2455-1G>A
NM_022168.4(IFIH1):c.2455-6T>A rs2105192046
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.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.250C>G (p.Arg84Gly)
NM_022168.4(IFIH1):c.2515G>C (p.Gly839Arg)
NM_022168.4(IFIH1):c.2525A>T (p.Glu842Val)
NM_022168.4(IFIH1):c.2527_2528inv (p.His843Cys)
NM_022168.4(IFIH1):c.2530G>C (p.Glu844Gln)
NM_022168.4(IFIH1):c.2542G>A (p.Asp848Asn)
NM_022168.4(IFIH1):c.2549G>C (p.Arg850Pro) rs370618144
NM_022168.4(IFIH1):c.2558T>C (p.Met853Thr) rs1691055209
NM_022168.4(IFIH1):c.2560A>T (p.Met854Leu)
NM_022168.4(IFIH1):c.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.2591T>C (p.Met864Thr)
NM_022168.4(IFIH1):c.2596C>T (p.Pro866Ser)
NM_022168.4(IFIH1):c.259G>A (p.Gly87Ser)
NM_022168.4(IFIH1):c.2601G>C (p.Glu867Asp) rs764489663
NM_022168.4(IFIH1):c.2604G>C (p.Glu868Asp) rs760907862
NM_022168.4(IFIH1):c.2609C>T (p.Ala870Val)
NM_022168.4(IFIH1):c.2614A>C (p.Lys872Gln)
NM_022168.4(IFIH1):c.2616+3A>T
NM_022168.4(IFIH1):c.2616+6G>A rs761784724
NM_022168.4(IFIH1):c.2616G>C (p.Lys872Asn)
NM_022168.4(IFIH1):c.2617-1G>T
NM_022168.4(IFIH1):c.2618T>G (p.Ile873Ser)
NM_022168.4(IFIH1):c.2623G>A (p.Glu875Lys)
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
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.2687A>C (p.Tyr896Ser)
NM_022168.4(IFIH1):c.2689A>C (p.Lys897Gln)
NM_022168.4(IFIH1):c.2707A>T (p.Ile903Leu)
NM_022168.4(IFIH1):c.2713T>C (p.Phe905Leu)
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe) rs1690962431
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile) rs1690962335
NM_022168.4(IFIH1):c.2728T>A (p.Cys910Ser)
NM_022168.4(IFIH1):c.2734G>C (p.Val912Leu) rs763049591
NM_022168.4(IFIH1):c.2744G>A (p.Cys915Tyr)
NM_022168.4(IFIH1):c.2755G>T (p.Asp919Tyr)
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr) rs748895438
NM_022168.4(IFIH1):c.275C>T (p.Ala92Val) rs2105238199
NM_022168.4(IFIH1):c.2770G>A (p.Glu924Lys) rs2105187737
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly) rs1690960964
NM_022168.4(IFIH1):c.2777T>C (p.Met926Thr)
NM_022168.4(IFIH1):c.2778G>A (p.Met926Ile)
NM_022168.4(IFIH1):c.277C>G (p.Arg93Gly) rs947699715
NM_022168.4(IFIH1):c.2780A>T (p.His927Leu) rs747311719
NM_022168.4(IFIH1):c.2783_2784delinsG (p.His928fs)
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp) rs374202040
NM_022168.4(IFIH1):c.2789A>G (p.Asn930Ser)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile) rs1576220013
NM_022168.4(IFIH1):c.2795C>A (p.Thr932Asn)
NM_022168.4(IFIH1):c.2798del (p.Pro933fs)
NM_022168.4(IFIH1):c.2800G>A (p.Glu934Lys)
NM_022168.4(IFIH1):c.2810A>G (p.Glu937Gly)
NM_022168.4(IFIH1):c.2812C>G (p.Leu938Val) rs2105187108
NM_022168.4(IFIH1):c.2812del (p.Leu938fs) rs2105187112
NM_022168.4(IFIH1):c.2816del (p.Tyr939fs)
NM_022168.4(IFIH1):c.2818A>T (p.Ile940Phe)
NM_022168.4(IFIH1):c.2820T>G (p.Ile940Met) rs2105187091
NM_022168.4(IFIH1):c.2827G>T (p.Glu943Ter) rs2105187079
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>T (p.Lys950Asn) rs2105187036
NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu)
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile) rs748006043
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.2884T>C (p.Cys962Arg) rs1559808756
NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val) rs2105186932
NM_022168.4(IFIH1):c.2898+4A>G
NM_022168.4(IFIH1):c.2898G>C (p.Gln966His)
NM_022168.4(IFIH1):c.2899G>A (p.Ala967Thr)
NM_022168.4(IFIH1):c.2899G>C (p.Ala967Pro)
NM_022168.4(IFIH1):c.289C>A (p.Pro97Thr)
NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter) rs1690944637
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu) rs2105186745
NM_022168.4(IFIH1):c.2922C>G (p.His974Gln)
NM_022168.4(IFIH1):c.2932G>C (p.Asp978His)
NM_022168.4(IFIH1):c.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.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.2990del (p.Lys997fs) rs2105186622
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.3025A>G (p.Thr1009Ala) rs1690942148
NM_022168.4(IFIH1):c.3026C>G (p.Thr1009Arg)
NM_022168.4(IFIH1):c.3042C>G (p.Asp1014Glu)
NM_022168.4(IFIH1):c.3044A>G (p.Tyr1015Cys)
NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly)
NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr) rs1559808617
NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)
NM_022168.4(IFIH1):c.313_314delinsGA (p.Pro105Glu)
NM_022168.4(IFIH1):c.319T>G (p.Phe107Val) rs1047156211
NM_022168.4(IFIH1):c.322G>A (p.Glu108Lys)
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser) rs1355798943
NM_022168.4(IFIH1):c.332A>G (p.His111Arg) rs2105237997
NM_022168.4(IFIH1):c.337G>A (p.Glu113Lys) rs1419235573
NM_022168.4(IFIH1):c.337G>T (p.Glu113Ter)
NM_022168.4(IFIH1):c.340T>A (p.Tyr114Asn)
NM_022168.4(IFIH1):c.343C>T (p.Leu115Phe)
NM_022168.4(IFIH1):c.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.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>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.391G>A (p.Val131Ile) rs2105237866
NM_022168.4(IFIH1):c.406G>A (p.Asp136Asn) rs1683536418
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.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.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.460G>C (p.Ala154Pro)
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.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.523G>A (p.Glu175Lys)
NM_022168.4(IFIH1):c.538G>A (p.Ala180Thr)
NM_022168.4(IFIH1):c.542T>C (p.Phe181Ser)
NM_022168.4(IFIH1):c.54C>G (p.Phe18Leu)
NM_022168.4(IFIH1):c.554T>C (p.Leu185Pro)
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro) rs189443152
NM_022168.4(IFIH1):c.574G>A (p.Glu192Lys)
NM_022168.4(IFIH1):c.577C>A (p.Leu193Ile)
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
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.602A>C (p.Asp201Ala)
NM_022168.4(IFIH1):c.614G>A (p.Ser205Asn)
NM_022168.4(IFIH1):c.617A>G (p.Asn206Ser)
NM_022168.4(IFIH1):c.61A>G (p.Arg21Gly)
NM_022168.4(IFIH1):c.622+3A>G
NM_022168.4(IFIH1):c.623-1G>A
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.63G>C (p.Arg21Ser) rs553228814
NM_022168.4(IFIH1):c.646G>A (p.Asp216Asn)
NM_022168.4(IFIH1):c.64G>A (p.Val22Met)
NM_022168.4(IFIH1):c.652C>A (p.Pro218Thr) rs2105226887
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala) rs1396124415
NM_022168.4(IFIH1):c.680C>A (p.Thr227Asn)
NM_022168.4(IFIH1):c.699G>A (p.Leu233=)
NM_022168.4(IFIH1):c.703A>G (p.Lys235Glu)
NM_022168.4(IFIH1):c.705G>T (p.Lys235Asn)
NM_022168.4(IFIH1):c.713G>A (p.Trp238Ter) rs1346345254
NM_022168.4(IFIH1):c.728A>G (p.Asn243Ser)
NM_022168.4(IFIH1):c.730T>A (p.Ser244Thr) rs753380568
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_022168.4(IFIH1):c.737_739dup (p.Ser247Ter) rs1399614346
NM_022168.4(IFIH1):c.764T>C (p.Val255Ala) rs771145026
NM_022168.4(IFIH1):c.766T>G (p.Ser256Ala)
NM_022168.4(IFIH1):c.768A>G (p.Ser256=)
NM_022168.4(IFIH1):c.769+3A>G rs769979161
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.80A>C (p.Gln27Pro) rs1261297304
NM_022168.4(IFIH1):c.80A>G (p.Gln27Arg)
NM_022168.4(IFIH1):c.810A>C (p.Leu270Phe)
NM_022168.4(IFIH1):c.811G>T (p.Asp271Tyr) rs544744271
NM_022168.4(IFIH1):c.828T>A (p.His276Gln) rs2105214711
NM_022168.4(IFIH1):c.829A>G (p.Asn277Asp)
NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)
NM_022168.4(IFIH1):c.855_874+1dup
NM_022168.4(IFIH1):c.860T>C (p.Met287Thr)
NM_022168.4(IFIH1):c.863G>T (p.Gly288Val)
NM_022168.4(IFIH1):c.865A>G (p.Ser289Gly)
NM_022168.4(IFIH1):c.871T>A (p.Ser291Thr)
NM_022168.4(IFIH1):c.874+6G>T
NM_022168.4(IFIH1):c.875-11A>G
NM_022168.4(IFIH1):c.875-1G>C rs1682933667
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly) rs2105209194
NM_022168.4(IFIH1):c.896G>T (p.Arg299Ile)
NM_022168.4(IFIH1):c.8A>G (p.Asn3Ser) rs2105238788
NM_022168.4(IFIH1):c.901T>C (p.Ser301Pro)
NM_022168.4(IFIH1):c.902C>T (p.Ser301Phe) rs764283944
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.926G>C (p.Arg309Thr)
NM_022168.4(IFIH1):c.929del (p.Pro310fs) rs1212715492
NM_022168.4(IFIH1):c.937del (p.Met313fs)
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.956C>G (p.Ala319Gly) rs1682931873
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.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.996G>T (p.Gly332=) rs1576229569
NM_022168.4(IFIH1):c.997A>G (p.Ser333Gly)
NM_024570.4(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile)
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)
NM_024570.4(RNASEH2B):c.137-13T>G
NM_024570.4(RNASEH2B):c.137-4A>C
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu) rs1951648632
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile) rs1458407476
NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys) rs1951650677
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)
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+6T>C
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val) rs1951668772
NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn) rs1879259645
NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His) rs1879259645
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)
NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met) rs2137938188
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.31G>T (p.Val11Phe)
NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=)
NM_024570.4(RNASEH2B):c.322-17A>G
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu) rs1363440628
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)
NM_024570.4(RNASEH2B):c.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.376A>G (p.Ile126Val) rs569343532
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr) rs780398368
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp) rs1951727784
NM_024570.4(RNASEH2B):c.436+6G>C
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.467A>G (p.Tyr156Cys)
NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn) rs76219783
NM_024570.4(RNASEH2B):c.510+3A>G rs1387848478
NM_024570.4(RNASEH2B):c.510+6G>T rs1951858134
NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=) rs2137982984
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA
NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala)
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile) rs902917241
NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser) rs1951888592
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.580T>C (p.Phe194Leu)
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys) rs745471919
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+2dup
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.64+3A>G
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp) rs977521667
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.699-9C>G rs2138005108
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu) rs372632599
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe) rs748052389
NM_024570.4(RNASEH2B):c.741+6A>G
NM_024570.4(RNASEH2B):c.742-9A>G rs1952008392
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)
NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs) rs746868812
NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro) rs2138027194
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)
NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del) rs776706264
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.929del (p.Gly310fs) rs1952051723
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr) rs1857361152
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.118G>C (p.Gly40Arg)
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.142T>C (p.Phe48Leu) rs1857359953
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val) rs1233458293
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala) rs1857359394
NM_032193.4(RNASEH2C):c.172+5G>A rs781232402
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.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.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.244T>C (p.Tyr82His)
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys) rs2135653148
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
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.264_268del (p.Lys89fs)
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.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.297G>C (p.Leu99Phe) rs1390405064
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg) rs766900205
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile) rs1318717066
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.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.343G>A (p.Asp115Asn)
NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His)
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu) rs2135652511
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro) rs765558776
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly) rs1857345402
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
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.446C>G (p.Thr149Ser)
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.468+5G>A rs753880827
NM_032193.4(RNASEH2C):c.468+5G>C rs753880827
NM_032193.4(RNASEH2C):c.469-14_469-9del
NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala) rs2135651271
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser) rs1857362640
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)
NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser) rs2135654326
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) rs2040326850
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.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.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.14C>A (p.Ala5Asp)
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) rs2107256110
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
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.191T>C (p.Val64Ala) rs763056226
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) rs748535974
NM_033629.6(TREX1):c.259C>G (p.Leu87Val)
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro)
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile)
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu) rs2040321005
NM_033629.6(TREX1):c.271G>C (p.Val91Leu)
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr)
NM_033629.6(TREX1):c.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.295T>C (p.Cys99Arg)
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.314C>T (p.Ala105Val)
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) rs759594113
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) rs780467272
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) rs757863487
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) rs1064796645
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) rs746384382
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala)
NM_033629.6(TREX1):c.412C>G (p.Leu138Val) rs2040349486
NM_033629.6(TREX1):c.419T>C (p.Met140Thr) rs2107259076
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser) rs2040351031
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) rs2040351297
NM_033629.6(TREX1):c.43_45dup (p.Ile15dup) rs2040322179
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala)
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr)
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) rs776885477
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
NM_033629.6(TREX1):c.467_469dup (p.Ile156dup) rs1272053329
NM_033629.6(TREX1):c.468C>G (p.Ile156Met)
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala)
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser) rs1210588757
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln)
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln) rs143885312
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro) rs143885312
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu) rs2040354615
NM_033629.6(TREX1):c.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.509A>G (p.Glu170Gly) rs2107260081
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser)
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
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.531_548del (p.Ser178_Tyr183del)
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) rs2107255139
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
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.589G>A (p.Ala197Thr)
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) rs1416519719
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.616A>G (p.Ser206Gly)
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn)
NM_033629.6(TREX1):c.621C>G (p.Ile207Met)
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)
NM_033629.6(TREX1):c.627G>C (p.Gln209His) rs748970378
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys)
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln) rs775117062
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
NM_033629.6(TREX1):c.662C>T (p.Ala221Val)
NM_033629.6(TREX1):c.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.676T>C (p.Phe226Leu)
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
NM_033629.6(TREX1):c.694A>G (p.Met232Val) rs2040371837
NM_033629.6(TREX1):c.703del (p.Val235fs)
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) rs2107263775
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer)
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr) rs112741962
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile) rs759962919
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile) rs2040376821
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile)
NM_033629.6(TREX1):c.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.760C>A (p.Leu254Met)
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile) rs1447568260
NM_033629.6(TREX1):c.780_781del (p.Pro262fs)
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)
NM_033629.6(TREX1):c.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.799dup (p.Ser267fs) rs2107265081
NM_033629.6(TREX1):c.802del (p.Arg268fs) rs2107265153
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys)
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp)
NM_033629.6(TREX1):c.806G>T (p.Gly269Val)
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala)
NM_033629.6(TREX1):c.815A>T (p.Asp272Val)
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) rs2040382167
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe)
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) rs1369567808
NM_033629.6(TREX1):c.84G>C (p.Gln28His)
NM_033629.6(TREX1):c.854A>T (p.Glu285Val) rs2040385549
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) rs2040386246
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer) rs2107266070
NM_033629.6(TREX1):c.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.909_910del (p.Leu304fs) rs1315240244
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) rs778550314
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.91G>A (p.Val31Ile) rs1057321761
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) rs1265570241
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)

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