ClinVar Miner

List of variants reported as uncertain significance for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 635
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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_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001111.5(ADAR):c.3401A>G (p.Tyr1134Cys) rs150284449 0.00011
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471 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_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_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_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_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_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_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
NC_000001.10:g.(?_154557262)_(154557840_?)dup
NC_000001.10:g.(?_154569261)_(154571081_?)dup
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

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