ClinVar Miner

List of variants reported as uncertain significance for Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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ClinVar version:
Total variants: 388
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926 0.00058
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly) rs149241274 0.00025
NM_000448.3(RAG1):c.2774C>T (p.Thr925Met) rs144893101 0.00024
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr) rs151269922 0.00021
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn) rs150790148 0.00019
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr) rs148380512 0.00019
NM_000448.3(RAG1):c.653G>A (p.Arg218His) rs202178215 0.00019
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_000448.3(RAG1):c.2035A>G (p.Ile679Val) rs143227621 0.00016
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys) rs140089249 0.00015
NM_000448.3(RAG1):c.2527A>G (p.Lys843Glu) rs186717025 0.00014
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys) rs145772007 0.00012
NM_000448.3(RAG1):c.2753G>A (p.Arg918His) rs368073575 0.00009
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031 0.00009
NM_000536.4(RAG2):c.1205A>G (p.Tyr402Cys) rs199798089 0.00009
NM_000448.3(RAG1):c.2428A>G (p.Ile810Val) rs61752933 0.00008
NM_000448.3(RAG1):c.830A>G (p.Lys277Arg) rs1027087402 0.00008
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln) rs377307948 0.00006
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile) rs200758244 0.00006
NM_000448.3(RAG1):c.1060C>A (p.Leu354Met) rs753165042 0.00006
NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg) rs773703055 0.00006
NM_000448.3(RAG1):c.3089G>T (p.Gly1030Val) rs369891733 0.00006
NM_000448.3(RAG1):c.470A>G (p.Lys157Arg) rs1258478128 0.00006
NM_000448.3(RAG1):c.917C>T (p.Thr306Ile) rs145962212 0.00006
NM_000536.4(RAG2):c.718C>T (p.Leu240Phe) rs374781438 0.00006
NM_000536.4(RAG2):c.898C>T (p.Arg300Cys) rs746253611 0.00006
NM_000448.3(RAG1):c.1012A>C (p.Thr338Pro) rs773326832 0.00005
NM_000448.3(RAG1):c.824G>A (p.Ser275Asn) rs368607209 0.00005
NM_000448.3(RAG1):c.850C>T (p.Pro284Ser) rs768862261 0.00005
NM_000536.4(RAG2):c.157A>C (p.Asn53His) rs774097244 0.00005
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) rs202189218 0.00004
NM_000448.3(RAG1):c.1727A>T (p.Asp576Val) rs142333735 0.00004
NM_000448.3(RAG1):c.2009C>T (p.Thr670Met) rs139863630 0.00004
NM_000448.3(RAG1):c.2516A>T (p.His839Leu) rs778785063 0.00004
NM_000448.3(RAG1):c.2554A>T (p.Met852Leu) rs760255456 0.00004
NM_000448.3(RAG1):c.3025C>T (p.His1009Tyr) rs376829075 0.00004
NM_000448.3(RAG1):c.598G>A (p.Val200Met) rs1232282131 0.00004
NM_000448.3(RAG1):c.655C>T (p.Arg219Trp) rs368199324 0.00004
NM_000448.3(RAG1):c.656G>A (p.Arg219Gln) rs764179803 0.00004
NM_000448.3(RAG1):c.799G>A (p.Ala267Thr) rs148393376 0.00004
NM_000448.3(RAG1):c.152A>T (p.Asp51Val) rs147486240 0.00003
NM_000448.3(RAG1):c.1630C>A (p.Leu544Ile) rs773829381 0.00003
NM_000448.3(RAG1):c.1924A>C (p.Lys642Gln) rs544726387 0.00003
NM_000448.3(RAG1):c.2245A>G (p.Ile749Val) rs542851147 0.00003
NM_000448.3(RAG1):c.335G>A (p.Arg112His) rs749223640 0.00003
NM_000448.3(RAG1):c.394C>T (p.Pro132Ser) rs773742414 0.00003
NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys) rs377569152 0.00003
NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys) rs189020262 0.00003
NM_000536.4(RAG2):c.431T>C (p.Val144Ala) rs1851090348 0.00003
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser) rs751073669 0.00003
NM_000448.3(RAG1):c.1160T>C (p.Val387Ala) rs771237578 0.00002
NM_000448.3(RAG1):c.1202C>T (p.Ser401Leu) rs1385203770 0.00002
NM_000448.3(RAG1):c.1256A>G (p.Lys419Arg) rs780974569 0.00002
NM_000448.3(RAG1):c.1907A>G (p.His636Arg) rs909682682 0.00002
NM_000448.3(RAG1):c.193G>T (p.Val65Phe) rs750032999 0.00002
NM_000448.3(RAG1):c.319C>G (p.Leu107Val) rs144019501 0.00002
NM_000448.3(RAG1):c.323G>A (p.Arg108Gln) rs748211230 0.00002
NM_000448.3(RAG1):c.455C>T (p.Pro152Leu) rs763843831 0.00002
NM_000448.3(RAG1):c.471G>T (p.Lys157Asn) rs751582511 0.00002
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly) rs753730066 0.00002
NM_000536.4(RAG2):c.119C>A (p.Ser40Tyr) rs762460908 0.00002
NM_000536.4(RAG2):c.133G>A (p.Val45Ile) rs770312622 0.00002
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) rs373151027 0.00002
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg) rs777051349 0.00002
NM_000536.4(RAG2):c.296C>G (p.Pro99Arg) rs747968724 0.00002
NM_000536.4(RAG2):c.326T>A (p.Val109Asp) rs201258007 0.00002
NM_000536.4(RAG2):c.583T>C (p.Tyr195His) rs1479328926 0.00002
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser) rs368935791 0.00002
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly) rs757524729 0.00002
NM_000448.3(RAG1):c.1123C>G (p.His375Asp) rs773272902 0.00001
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) rs1554944856 0.00001
NM_000448.3(RAG1):c.124C>T (p.Pro42Ser) rs1338238826 0.00001
NM_000448.3(RAG1):c.1467G>C (p.Arg489Ser) rs1270133689 0.00001
NM_000448.3(RAG1):c.1480A>G (p.Ile494Val) rs777216600 0.00001
NM_000448.3(RAG1):c.1544C>T (p.Pro515Leu) rs1224336572 0.00001
NM_000448.3(RAG1):c.15C>G (p.Phe5Leu) rs745600099 0.00001
NM_000448.3(RAG1):c.1637C>T (p.Ser546Phe) rs148235228 0.00001
NM_000448.3(RAG1):c.1742T>C (p.Met581Thr) rs1317842420 0.00001
NM_000448.3(RAG1):c.1822G>A (p.Val608Met) rs761671439 0.00001
NM_000448.3(RAG1):c.1825A>G (p.Ser609Gly) rs1460488211 0.00001
NM_000448.3(RAG1):c.194T>C (p.Val65Ala) rs143654819 0.00001
NM_000448.3(RAG1):c.2060G>A (p.Ser687Asn) rs767579422 0.00001
NM_000448.3(RAG1):c.206C>G (p.Ala69Gly) rs887750833 0.00001
NM_000448.3(RAG1):c.2102T>A (p.Phe701Tyr) rs1197216177 0.00001
NM_000448.3(RAG1):c.2204C>T (p.Ala735Val) rs922541917 0.00001
NM_000448.3(RAG1):c.2219C>G (p.Ala740Gly) rs762107952 0.00001
NM_000448.3(RAG1):c.2237T>G (p.Phe746Cys) rs377252087 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000448.3(RAG1):c.232C>G (p.Gln78Glu) rs759537311 0.00001
NM_000448.3(RAG1):c.2404G>A (p.Gly802Ser) rs151322536 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000448.3(RAG1):c.2445A>G (p.Ile815Met) rs748162851 0.00001
NM_000448.3(RAG1):c.2489A>C (p.Lys830Thr) rs763838960 0.00001
NM_000448.3(RAG1):c.2500G>T (p.Ala834Ser) rs1215266586 0.00001
NM_000448.3(RAG1):c.2515C>T (p.His839Tyr) rs1293036892 0.00001
NM_000448.3(RAG1):c.253C>G (p.Pro85Ala) rs754321019 0.00001
NM_000448.3(RAG1):c.2600A>C (p.Asp867Ala) rs970428951 0.00001
NM_000448.3(RAG1):c.2752C>T (p.Arg918Cys) rs753962790 0.00001
NM_000448.3(RAG1):c.2777A>C (p.Lys926Thr) rs1350887566 0.00001
NM_000448.3(RAG1):c.277G>A (p.Asp93Asn) rs751291400 0.00001
NM_000448.3(RAG1):c.283G>A (p.Glu95Lys) rs1343229886 0.00001
NM_000448.3(RAG1):c.2844A>T (p.Glu948Asp) rs377118671 0.00001
NM_000448.3(RAG1):c.2896T>A (p.Ser966Thr) rs973731079 0.00001
NM_000448.3(RAG1):c.2979C>A (p.His993Gln) rs1424729647 0.00001
NM_000448.3(RAG1):c.29G>T (p.Gly10Val) rs977780517 0.00001
NM_000448.3(RAG1):c.3053C>T (p.Thr1018Ile) rs748782315 0.00001
NM_000448.3(RAG1):c.3083C>T (p.Pro1028Leu) rs771708758 0.00001
NM_000448.3(RAG1):c.308A>G (p.His103Arg) rs777049576 0.00001
NM_000448.3(RAG1):c.373A>G (p.Arg125Gly) rs776734747 0.00001
NM_000448.3(RAG1):c.416G>T (p.Gly139Val) rs140648865 0.00001
NM_000448.3(RAG1):c.459C>G (p.Asp153Glu) rs1487804801 0.00001
NM_000448.3(RAG1):c.467C>T (p.Ala156Val) rs1801203 0.00001
NM_000448.3(RAG1):c.549G>A (p.Met183Ile) rs750394886 0.00001
NM_000448.3(RAG1):c.652C>T (p.Arg218Cys) rs557360812 0.00001
NM_000448.3(RAG1):c.680A>T (p.Gln227Leu) rs757672759 0.00001
NM_000448.3(RAG1):c.712A>G (p.Thr238Ala) rs1850793100 0.00001
NM_000448.3(RAG1):c.803A>G (p.Asn268Ser) rs372245240 0.00001
NM_000448.3(RAG1):c.82T>C (p.Trp28Arg) rs1274599533 0.00001
NM_000448.3(RAG1):c.875C>T (p.Ser292Phe) rs1225342881 0.00001
NM_000448.3(RAG1):c.94C>G (p.Leu32Val) rs149364682 0.00001
NM_000448.3(RAG1):c.995G>A (p.Arg332Gln) rs762022709 0.00001
NM_000448.3(RAG1):c.997T>C (p.Tyr333His) rs1041695603 0.00001
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile) rs766318035 0.00001
NM_000536.4(RAG2):c.1120G>C (p.Asp374His) rs772618891 0.00001
NM_000536.4(RAG2):c.1163C>A (p.Ala388Glu) rs958911693 0.00001
NM_000536.4(RAG2):c.1184G>C (p.Gly395Ala) rs757081652 0.00001
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile) rs781487639 0.00001
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp) rs1479440369 0.00001
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323 0.00001
NM_000536.4(RAG2):c.1526G>T (p.Gly509Val) rs779267024 0.00001
NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe) rs754150018 0.00001
NM_000536.4(RAG2):c.1544C>A (p.Thr515Asn) rs1017593785 0.00001
NM_000536.4(RAG2):c.25A>G (p.Ser9Gly) rs1851108332 0.00001
NM_000536.4(RAG2):c.268C>G (p.Gln90Glu) rs149769148 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln) rs779879427 0.00001
NM_000536.4(RAG2):c.695A>G (p.Asn232Ser) rs550672306 0.00001
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser) rs1254138271 0.00001
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser) rs918016464 0.00001
NM_000536.4(RAG2):c.752T>C (p.Val251Ala) rs755587413 0.00001
NM_000536.4(RAG2):c.776C>T (p.Ser259Phe) rs758697173 0.00001
NM_000536.4(RAG2):c.941G>T (p.Ser314Ile) rs766257880 0.00001
NM_000448.3(RAG1):c.1010C>G (p.Pro337Arg) rs2133294914
NM_000448.3(RAG1):c.1022A>G (p.Glu341Gly)
NM_000448.3(RAG1):c.1039T>A (p.Phe347Ile)
NM_000448.3(RAG1):c.103G>A (p.Val35Met)
NM_000448.3(RAG1):c.1048G>C (p.Val350Leu) rs200758244
NM_000448.3(RAG1):c.104T>A (p.Val35Glu) rs1414071641
NM_000448.3(RAG1):c.109T>G (p.Ser37Ala)
NM_000448.3(RAG1):c.1114T>C (p.Tyr372His) rs1850803486
NM_000448.3(RAG1):c.1117A>G (p.Asn373Asp)
NM_000448.3(RAG1):c.1127T>C (p.Ile376Thr)
NM_000448.3(RAG1):c.1147A>G (p.Lys383Glu) rs1850804605
NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser) rs568838996
NM_000448.3(RAG1):c.1280G>A (p.Gly427Asp)
NM_000448.3(RAG1):c.1282G>A (p.Gly428Arg) rs2133295410
NM_000448.3(RAG1):c.130G>A (p.Glu44Lys) rs1850778515
NM_000448.3(RAG1):c.1321G>T (p.Ala441Ser) rs1850809055
NM_000448.3(RAG1):c.1359G>T (p.Glu453Asp) rs1178216516
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.1465A>G (p.Arg489Gly)
NM_000448.3(RAG1):c.1468A>G (p.Thr490Ala) rs1590703120
NM_000448.3(RAG1):c.1472T>C (p.Val491Ala) rs1198163896
NM_000448.3(RAG1):c.1494G>C (p.Gln498His) rs1850813830
NM_000448.3(RAG1):c.1534G>A (p.Val512Ile)
NM_000448.3(RAG1):c.1554C>A (p.His518Gln) rs750551821
NM_000448.3(RAG1):c.1557C>G (p.His519Gln) rs2133295987
NM_000448.3(RAG1):c.1559T>A (p.Phe520Tyr)
NM_000448.3(RAG1):c.1559T>C (p.Phe520Ser) rs1490273597
NM_000448.3(RAG1):c.1560T>G (p.Phe520Leu) rs61758790
NM_000448.3(RAG1):c.1613T>C (p.Ile538Thr)
NM_000448.3(RAG1):c.1655C>G (p.Pro552Arg)
NM_000448.3(RAG1):c.1661A>G (p.Asp554Gly) rs1850817619
NM_000448.3(RAG1):c.1661A>T (p.Asp554Val) rs1850817619
NM_000448.3(RAG1):c.1736A>G (p.Glu579Gly)
NM_000448.3(RAG1):c.1753G>A (p.Asp585Asn)
NM_000448.3(RAG1):c.1761T>G (p.Asp587Glu) rs1554944973
NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)
NM_000448.3(RAG1):c.1801T>G (p.Ser601Ala) rs145951370
NM_000448.3(RAG1):c.1835A>G (p.His612Arg) rs1850821995
NM_000448.3(RAG1):c.1875T>G (p.Phe625Leu) rs749669514
NM_000448.3(RAG1):c.187C>T (p.Pro63Ser) rs1850780083
NM_000448.3(RAG1):c.1897A>G (p.Thr633Ala) rs2133296552
NM_000448.3(RAG1):c.1903G>T (p.Ala635Ser) rs1322150766
NM_000448.3(RAG1):c.191C>T (p.Ala64Val) rs1564988004
NM_000448.3(RAG1):c.193G>A (p.Val65Ile) rs750032999
NM_000448.3(RAG1):c.1970C>T (p.Pro657Leu)
NM_000448.3(RAG1):c.1981A>G (p.Met661Val)
NM_000448.3(RAG1):c.1992T>A (p.Asp664Glu)
NM_000448.3(RAG1):c.2004C>G (p.His668Gln)
NM_000448.3(RAG1):c.2020A>G (p.Ile674Val)
NM_000448.3(RAG1):c.2023C>G (p.Leu675Val)
NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala) rs773165685
NM_000448.3(RAG1):c.2056A>G (p.Lys686Glu) rs2133296841
NM_000448.3(RAG1):c.2065G>A (p.Glu689Lys) rs2133296872
NM_000448.3(RAG1):c.2087G>A (p.Gly696Asp) rs1850828185
NM_000448.3(RAG1):c.2126G>C (p.Gly709Ala) rs1850829046
NM_000448.3(RAG1):c.2140C>T (p.Leu714Phe) rs1590703656
NM_000448.3(RAG1):c.215A>G (p.Gln72Arg) rs781240450
NM_000448.3(RAG1):c.2185A>C (p.Ile729Leu) rs201192233
NM_000448.3(RAG1):c.2185A>G (p.Ile729Val) rs201192233
NM_000448.3(RAG1):c.2187T>G (p.Ile729Met) rs2133297090
NM_000448.3(RAG1):c.2248A>T (p.Thr750Ser) rs1850832170
NM_000448.3(RAG1):c.2276G>A (p.Arg759His) rs770953505
NM_000448.3(RAG1):c.2293T>A (p.Ser765Thr)
NM_000448.3(RAG1):c.2306A>G (p.His769Arg)
NM_000448.3(RAG1):c.2343G>T (p.Gly781=) rs961233109
NM_000448.3(RAG1):c.2396G>A (p.Cys799Tyr) rs2133297443
NM_000448.3(RAG1):c.2428A>T (p.Ile810Phe)
NM_000448.3(RAG1):c.2444T>C (p.Ile815Thr) rs1251259946
NM_000448.3(RAG1):c.2446G>T (p.Gly816Trp) rs1850836485
NM_000448.3(RAG1):c.2458A>G (p.Lys820Glu) rs1429787378
NM_000448.3(RAG1):c.2468A>C (p.Asn823Thr) rs147656090
NM_000448.3(RAG1):c.2468A>G (p.Asn823Ser) rs147656090
NM_000448.3(RAG1):c.248C>T (p.Ala83Val) rs1590701723
NM_000448.3(RAG1):c.253C>T (p.Pro85Ser) rs754321019
NM_000448.3(RAG1):c.2545A>G (p.Ile849Val)
NM_000448.3(RAG1):c.2605G>T (p.Val869Phe) rs201313833
NM_000448.3(RAG1):c.2665T>C (p.Tyr889His) rs2133297952
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.2692T>C (p.Ser898Pro)
NM_000448.3(RAG1):c.2709A>G (p.Lys903=) rs1850844060
NM_000448.3(RAG1):c.2732A>G (p.Gln911Arg)
NM_000448.3(RAG1):c.2733G>C (p.Gln911His) rs2133298067
NM_000448.3(RAG1):c.2738G>A (p.Ser913Asn)
NM_000448.3(RAG1):c.276C>A (p.His92Gln) rs550985019
NM_000448.3(RAG1):c.2824A>T (p.Thr942Ser) rs1850846848
NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile) rs762625040
NM_000448.3(RAG1):c.2834A>G (p.His945Arg) rs1850847083
NM_000448.3(RAG1):c.284A>C (p.Glu95Ala)
NM_000448.3(RAG1):c.284A>G (p.Glu95Gly)
NM_000448.3(RAG1):c.2861G>T (p.Gly954Val) rs1850847509
NM_000448.3(RAG1):c.2878G>T (p.Ala960Ser) rs897086171
NM_000448.3(RAG1):c.2882G>A (p.Ser961Asn)
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr) rs1245287257
NM_000448.3(RAG1):c.3009G>T (p.Gln1003His) rs1850850782
NM_000448.3(RAG1):c.3019A>G (p.Asn1007Asp) rs2133298602
NM_000448.3(RAG1):c.3047G>A (p.Gly1016Glu)
NM_000448.3(RAG1):c.3056T>C (p.Met1019Thr) rs1471962137
NM_000448.3(RAG1):c.3061C>A (p.Pro1021Thr)
NM_000448.3(RAG1):c.3071G>A (p.Ser1024Asn)
NM_000448.3(RAG1):c.3083C>A (p.Pro1028Gln) rs771708758
NM_000448.3(RAG1):c.3094G>C (p.Glu1032Gln)
NM_000448.3(RAG1):c.3098A>G (p.Asp1033Gly)
NM_000448.3(RAG1):c.3106G>C (p.Glu1036Gln) rs1850853178
NM_000448.3(RAG1):c.310C>G (p.Gln104Glu) rs991160720
NM_000448.3(RAG1):c.3121A>G (p.Met1041Val)
NM_000448.3(RAG1):c.318C>A (p.Asn106Lys) rs367725290
NM_000448.3(RAG1):c.319C>T (p.Leu107Phe) rs144019501
NM_000448.3(RAG1):c.337A>G (p.Ile113Val) rs2133293304
NM_000448.3(RAG1):c.340T>C (p.Cys114Arg)
NM_000448.3(RAG1):c.362A>C (p.Asp121Ala) rs780167146
NM_000448.3(RAG1):c.386T>G (p.Val129Gly) rs1168709961
NM_000448.3(RAG1):c.40G>A (p.Ala14Thr) rs765396585
NM_000448.3(RAG1):c.432G>T (p.Lys144Asn) rs144430517
NM_000448.3(RAG1):c.440G>C (p.Arg147Thr) rs2133293492
NM_000448.3(RAG1):c.461T>C (p.Leu154Pro)
NM_000448.3(RAG1):c.463A>G (p.Ile155Val) rs2133293541
NM_000448.3(RAG1):c.466G>A (p.Ala156Thr)
NM_000448.3(RAG1):c.487G>T (p.Val163Leu)
NM_000448.3(RAG1):c.491A>G (p.Lys164Arg)
NM_000448.3(RAG1):c.499G>A (p.Val167Ile)
NM_000448.3(RAG1):c.517A>T (p.Thr173Ser) rs1424812134
NM_000448.3(RAG1):c.561T>A (p.Phe187Leu)
NM_000448.3(RAG1):c.569C>A (p.Ala190Asp) rs2133293827
NM_000448.3(RAG1):c.625C>A (p.Pro209Thr) rs867348931
NM_000448.3(RAG1):c.649G>A (p.Ala217Thr)
NM_000448.3(RAG1):c.650C>A (p.Ala217Asp)
NM_000448.3(RAG1):c.656G>T (p.Arg219Leu) rs764179803
NM_000448.3(RAG1):c.739C>G (p.Arg247Gly) rs147203889
NM_000448.3(RAG1):c.739C>T (p.Arg247Cys) rs147203889
NM_000448.3(RAG1):c.740G>T (p.Arg247Leu) rs4151029
NM_000448.3(RAG1):c.776G>T (p.Ser259Ile)
NM_000448.3(RAG1):c.791AGA[1] (p.Lys265del) rs766378998
NM_000448.3(RAG1):c.800C>G (p.Ala267Gly) rs1002699516
NM_000448.3(RAG1):c.803A>C (p.Asn268Thr)
NM_000448.3(RAG1):c.826A>G (p.Thr276Ala) rs2133294507
NM_000448.3(RAG1):c.851C>T (p.Pro284Leu) rs1554944775
NM_000448.3(RAG1):c.869C>T (p.Ser290Phe)
NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)
NM_000448.3(RAG1):c.875C>G (p.Ser292Cys) rs1225342881
NM_000448.3(RAG1):c.882G>T (p.Gln294His)
NM_000448.3(RAG1):c.887G>C (p.Cys296Ser) rs2133294646
NM_000448.3(RAG1):c.920A>G (p.Asn307Ser)
NM_000448.3(RAG1):c.941G>A (p.Arg314Gln)
NM_000448.3(RAG1):c.946T>A (p.Cys316Ser)
NM_000448.3(RAG1):c.970A>G (p.Met324Val)
NM_000448.3(RAG1):c.980A>G (p.Tyr327Cys)
NM_000448.3(RAG1):c.98T>A (p.Phe33Tyr) rs2133292699
NM_000536.4(RAG2):c.1046A>G (p.Lys349Arg)
NM_000536.4(RAG2):c.1076A>G (p.Gln359Arg)
NM_000536.4(RAG2):c.1081A>G (p.Thr361Ala)
NM_000536.4(RAG2):c.1086C>G (p.Phe362Leu) rs1851061517
NM_000536.4(RAG2):c.1096C>G (p.Gln366Glu)
NM_000536.4(RAG2):c.109C>T (p.Pro37Ser)
NM_000536.4(RAG2):c.1117G>A (p.Gly373Arg)
NM_000536.4(RAG2):c.1127C>G (p.Thr376Ser) rs192958391
NM_000536.4(RAG2):c.1130C>T (p.Pro377Leu)
NM_000536.4(RAG2):c.1145A>G (p.Glu382Gly)
NM_000536.4(RAG2):c.116G>T (p.Arg39Ile) rs2133316269
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.1196T>C (p.Phe399Ser) rs1851056904
NM_000536.4(RAG2):c.119C>T (p.Ser40Phe)
NM_000536.4(RAG2):c.1221AGA[1] (p.Glu408del) rs1485140631
NM_000536.4(RAG2):c.1240_1241delinsAA (p.Gly414Asn) rs2133311785
NM_000536.4(RAG2):c.125C>T (p.Pro42Leu) rs2133316235
NM_000536.4(RAG2):c.1282A>C (p.Asn428His) rs757316422
NM_000536.4(RAG2):c.1283A>T (p.Asn428Ile)
NM_000536.4(RAG2):c.1346G>C (p.Gly449Ala)
NM_000536.4(RAG2):c.1384G>A (p.Ala462Thr)
NM_000536.4(RAG2):c.1391G>C (p.Arg464Pro)
NM_000536.4(RAG2):c.13A>T (p.Met5Leu) rs1851109238
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.140_141delinsTG (p.His47Leu)
NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg) rs1413100202
NM_000536.4(RAG2):c.1444G>A (p.Val482Met)
NM_000536.4(RAG2):c.1447G>A (p.Glu483Lys) rs1204454135
NM_000536.4(RAG2):c.1467C>G (p.His489Gln)
NM_000536.4(RAG2):c.1475A>G (p.Gln492Arg)
NM_000536.4(RAG2):c.1478G>T (p.Arg493Ile) rs2037101
NM_000536.4(RAG2):c.1486C>T (p.Pro496Ser) rs2133310879
NM_000536.4(RAG2):c.1501C>G (p.Pro501Ala) rs781104028
NM_000536.4(RAG2):c.1531G>T (p.Gly511Ter) rs757841294
NM_000536.4(RAG2):c.1532del (p.Gly511fs) rs2133310689
NM_000536.4(RAG2):c.1546C>T (p.Pro516Ser)
NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe) rs1169944983
NM_000536.4(RAG2):c.1565T>C (p.Leu522Pro) rs764457023
NM_000536.4(RAG2):c.156T>A (p.His52Gln)
NM_000536.4(RAG2):c.1581T>G (p.Asp527Glu) rs1851039632
NM_000536.4(RAG2):c.161A>G (p.His54Arg)
NM_000536.4(RAG2):c.16G>A (p.Val6Ile)
NM_000536.4(RAG2):c.186C>G (p.Phe62Leu)
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.238T>A (p.Phe80Ile) rs762369105
NM_000536.4(RAG2):c.253G>C (p.Glu85Gln)
NM_000536.4(RAG2):c.265C>T (p.His89Tyr) rs918106600
NM_000536.4(RAG2):c.286G>A (p.Gly96Arg)
NM_000536.4(RAG2):c.292A>G (p.Thr98Ala)
NM_000536.4(RAG2):c.356A>T (p.Lys119Met)
NM_000536.4(RAG2):c.362C>T (p.Thr121Ile) rs764684990
NM_000536.4(RAG2):c.376G>C (p.Glu126Gln)
NM_000536.4(RAG2):c.395A>G (p.Asp132Gly) rs375033313
NM_000536.4(RAG2):c.407C>T (p.Ala136Val) rs1851091277
NM_000536.4(RAG2):c.434T>C (p.Val145Ala) rs1851090191
NM_000536.4(RAG2):c.446G>A (p.Gly149Glu) rs1487032318
NM_000536.4(RAG2):c.456G>A (p.Met152Ile) rs2133314764
NM_000536.4(RAG2):c.461T>C (p.Val154Ala)
NM_000536.4(RAG2):c.464T>A (p.Leu155His) rs1064793250
NM_000536.4(RAG2):c.473G>T (p.Gly158Val)
NM_000536.4(RAG2):c.486G>A (p.Met162Ile)
NM_000536.4(RAG2):c.497A>G (p.His166Arg) rs1851085524
NM_000536.4(RAG2):c.516G>C (p.Trp172Cys)
NM_000536.4(RAG2):c.532T>C (p.Cys178Arg)
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg) rs1564996998
NM_000536.4(RAG2):c.562G>C (p.Glu188Gln) rs1554947160
NM_000536.4(RAG2):c.598C>A (p.Leu200Ile) rs2133314147
NM_000536.4(RAG2):c.644C>A (p.Thr215Asn) rs35691292
NM_000536.4(RAG2):c.647T>A (p.Ile216Asn) rs2133314014
NM_000536.4(RAG2):c.65T>C (p.Met22Thr)
NM_000536.4(RAG2):c.671T>G (p.Leu224Arg)
NM_000536.4(RAG2):c.718C>G (p.Leu240Val)
NM_000536.4(RAG2):c.719T>C (p.Leu240Pro) rs1851078112
NM_000536.4(RAG2):c.722C>T (p.Pro241Leu)
NM_000536.4(RAG2):c.740T>A (p.Val247Glu) rs2133313736
NM_000536.4(RAG2):c.744T>A (p.Asn248Lys)
NM_000536.4(RAG2):c.764G>T (p.Gly255Val) rs780531526
NM_000536.4(RAG2):c.766A>C (p.Ile256Leu)
NM_000536.4(RAG2):c.772G>A (p.Val258Ile)
NM_000536.4(RAG2):c.802A>C (p.Asn268His) rs1851075681
NM_000536.4(RAG2):c.80A>G (p.Gln27Arg) rs1851105662
NM_000536.4(RAG2):c.814G>A (p.Val272Ile) rs117899975
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys) rs772880437
NM_000536.4(RAG2):c.843T>A (p.Asn281Lys)
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys) rs1851073997
NM_000536.4(RAG2):c.884A>G (p.Asn295Ser) rs770231022
NM_000536.4(RAG2):c.904A>T (p.Met302Leu) rs1851071285
NM_000536.4(RAG2):c.907G>A (p.Glu303Lys) rs2133313060
NM_000536.4(RAG2):c.916G>T (p.Asp306Tyr)
NM_000536.4(RAG2):c.931A>G (p.Ile311Val)
NM_000536.4(RAG2):c.932T>C (p.Ile311Thr) rs1851070055
NM_000536.4(RAG2):c.971A>G (p.Asn324Ser)
NM_000536.4(RAG2):c.977C>T (p.Thr326Ile) rs781129987
NM_000536.4(RAG2):c.983T>C (p.Phe328Ser) rs1851066103
NM_000536.4(RAG2):c.995C>G (p.Pro332Arg)
NM_000536.4(RAG2):c.998G>A (p.Gly333Glu)

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