ClinVar Miner

List of variants studied 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: 1084
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.746= (p.His249=) rs3740955 0.51789
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) rs1980131 0.07643
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949 0.01926
NM_000448.3(RAG1):c.303G>A (p.Ala101=) rs4151025 0.01561
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_000448.3(RAG1):c.251A>G (p.His84Arg) rs150199231 0.00550
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn) rs4151034 0.00364
NM_000448.3(RAG1):c.2751G>A (p.Gln917=) rs150721661 0.00334
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) rs141560248 0.00227
NM_000448.3(RAG1):c.2451A>G (p.Glu817=) rs61758791 0.00167
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val) rs139113046 0.00148
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys) rs34841221 0.00130
NM_000448.3(RAG1):c.295G>A (p.Gly99Ser) rs138676205 0.00093
NM_000448.3(RAG1):c.1578G>A (p.Leu526=) rs143289774 0.00081
NM_000448.3(RAG1):c.740G>A (p.Arg247His) rs4151029 0.00068
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr) rs146584017 0.00062
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926 0.00058
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
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_000448.3(RAG1):c.1064T>C (p.Met355Thr) rs151077440 0.00021
NM_000448.3(RAG1):c.1821C>T (p.Asp607=) rs183806098 0.00021
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr) rs151269922 0.00021
NM_000448.3(RAG1):c.1154T>C (p.Ile385Thr) rs141049427 0.00019
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.1573C>T (p.Pro525Ser) rs4151032 0.00017
NM_000448.3(RAG1):c.2035A>G (p.Ile679Val) rs143227621 0.00016
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) rs144812762 0.00016
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483 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.2955T>C (p.Tyr985=) rs139084848 0.00014
NM_000536.4(RAG2):c.899G>A (p.Arg300His) rs138857320 0.00014
NM_000448.3(RAG1):c.597C>T (p.Asn199=) rs148288583 0.00013
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp) rs201779957 0.00012
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys) rs145772007 0.00012
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_000448.3(RAG1):c.2715C>T (p.Cys905=) rs138119069 0.00011
NM_000536.4(RAG2):c.334A>G (p.Ile112Val) rs373703454 0.00010
NM_000536.4(RAG2):c.369C>T (p.Arg123=) rs369277180 0.00010
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.2753G>A (p.Arg918His) rs368073575 0.00009
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) rs539590514 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.156C>T (p.Ser52=) rs544850214 0.00008
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.1A>G (p.Met1Val) rs200575481 0.00007
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_000448.3(RAG1):c.60C>T (p.His20=) rs138801620 0.00007
NM_000536.4(RAG2):c.1083A>G (p.Thr361=) rs371025129 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.1665C>T (p.Thr555=) rs141265699 0.00006
NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg) rs773703055 0.00006
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) rs104894287 0.00006
NM_000448.3(RAG1):c.2808C>A (p.Thr936=) rs199921936 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.213T>C (p.Pro71=) rs751114608 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.256_257del (p.Lys86fs) rs772962160 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.1251T>C (p.Ile417=) rs748248673 0.00005
NM_000536.4(RAG2):c.157A>C (p.Asn53His) rs774097244 0.00005
NM_000536.4(RAG2):c.417T>G (p.Gly139=) rs373022390 0.00005
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) rs202189218 0.00004
NM_000448.3(RAG1):c.1524T>C (p.Asn508=) rs370855517 0.00004
NM_000448.3(RAG1):c.1727A>T (p.Asp576Val) rs142333735 0.00004
NM_000448.3(RAG1):c.2004C>T (p.His668=) rs1367781663 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.2874A>G (p.Ala958=) rs138510915 0.00004
NM_000448.3(RAG1):c.2913T>C (p.Phe971=) rs747371869 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.3025C>T (p.His1009Tyr) rs376829075 0.00004
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00004
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu) rs753042511 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.819T>C (p.His273=) rs769498487 0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) rs758288006 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
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.1809T>C (p.Asp603=) rs763827932 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.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000448.3(RAG1):c.2799A>G (p.Gly933=) rs769375583 0.00003
NM_000448.3(RAG1):c.282C>T (p.Asn94=) rs148700564 0.00003
NM_000448.3(RAG1):c.335G>A (p.Arg112His) rs749223640 0.00003
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala) rs760746448 0.00003
NM_000448.3(RAG1):c.394C>T (p.Pro132Ser) rs773742414 0.00003
NM_000448.3(RAG1):c.592A>C (p.Arg198=) rs746425890 0.00003
NM_000448.3(RAG1):c.993C>T (p.Cys331=) rs745645336 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.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 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.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.1202C>T (p.Ser401Leu) rs1385203770 0.00002
NM_000448.3(RAG1):c.1236G>A (p.Arg412=) rs373408080 0.00002
NM_000448.3(RAG1):c.1256A>G (p.Lys419Arg) rs780974569 0.00002
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) rs104894284 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.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000448.3(RAG1):c.258G>A (p.Lys86=) rs755158171 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.378A>G (p.Arg126=) rs748499180 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_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000448.3(RAG1):c.750G>A (p.Lys250=) rs1295860140 0.00002
NM_000536.4(RAG2):c.1029C>T (p.Phe343=) rs747177680 0.00002
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly) rs753730066 0.00002
NM_000536.4(RAG2):c.1191T>C (p.Asp397=) rs752248630 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.140A>T (p.His47Leu) rs776913146 0.00002
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) rs373151027 0.00002
NM_000536.4(RAG2):c.174G>A (p.Lys58=) rs202020106 0.00002
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 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.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
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.1187G>A (p.Arg396His) rs104894291 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.1239G>A (p.Glu413=) rs1850807745 0.00001
NM_000448.3(RAG1):c.124C>T (p.Pro42Ser) rs1338238826 0.00001
NM_000448.3(RAG1):c.1260C>T (p.Ala420=) rs549588944 0.00001
NM_000448.3(RAG1):c.1266T>A (p.Ala422=) rs774658361 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 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.1632A>G (p.Leu544=) rs762586430 0.00001
NM_000448.3(RAG1):c.1637C>T (p.Ser546Phe) rs148235228 0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) rs104894285 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.1870C>T (p.Arg624Cys) rs199474688 0.00001
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) rs199474680 0.00001
NM_000448.3(RAG1):c.194T>C (p.Val65Ala) rs143654819 0.00001
NM_000448.3(RAG1):c.1974G>A (p.Leu658=) rs1481299078 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.2082G>A (p.Leu694=) rs1850828097 0.00001
NM_000448.3(RAG1):c.2102T>A (p.Phe701Tyr) rs1197216177 0.00001
NM_000448.3(RAG1):c.2124C>T (p.Thr708=) rs578086152 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2163C>T (p.Leu721=) rs369014366 0.00001
NM_000448.3(RAG1):c.2181C>G (p.Val727=) rs148763154 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.2325G>A (p.Leu775=) rs766907859 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000448.3(RAG1):c.232C>G (p.Gln78Glu) rs759537311 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 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.2481G>A (p.Glu827=) rs1304782664 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.2607T>C (p.Val869=) rs751400793 0.00001
NM_000448.3(RAG1):c.2637C>T (p.His879=) rs772380086 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 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.2867T>C (p.Ile956Thr) rs182385524 0.00001
NM_000448.3(RAG1):c.2896T>A (p.Ser966Thr) rs973731079 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.3(RAG1):c.2979C>A (p.His993Gln) rs1424729647 0.00001
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) rs775412266 0.00001
NM_000448.3(RAG1):c.2991C>T (p.Tyr997=) rs368169159 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.3084A>G (p.Pro1028=) rs1238573903 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.424C>T (p.Arg142Ter) rs773929270 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.47A>G (p.Asp16Gly) rs751834545 0.00001
NM_000448.3(RAG1):c.549G>A (p.Met183Ile) rs750394886 0.00001
NM_000448.3(RAG1):c.575G>A (p.Cys192Tyr) rs752955928 0.00001
NM_000448.3(RAG1):c.588C>T (p.Phe196=) rs1223299119 0.00001
NM_000448.3(RAG1):c.591G>A (p.Pro197=) rs370135440 0.00001
NM_000448.3(RAG1):c.63A>T (p.Pro21=) rs757035017 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.831G>A (p.Lys277=) rs1376996089 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.983G>A (p.Cys328Tyr) rs121918571 0.00001
NM_000448.3(RAG1):c.995G>A (p.Arg332Gln) rs762022709 0.00001
NM_000448.3(RAG1):c.996A>T (p.Arg332=) rs1428825905 0.00001
NM_000448.3(RAG1):c.997T>C (p.Tyr333His) rs1041695603 0.00001
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter) rs902350422 0.00001
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile) rs766318035 0.00001
NM_000536.4(RAG2):c.1074G>A (p.Glu358=) rs557047531 0.00001
NM_000536.4(RAG2):c.1120G>C (p.Asp374His) rs772618891 0.00001
NM_000536.4(RAG2):c.1131C>T (p.Pro377=) rs777940606 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.1209T>C (p.Asn403=) rs1351286949 0.00001
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile) rs781487639 0.00001
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000536.4(RAG2):c.1323C>T (p.Pro441=) rs370624669 0.00001
NM_000536.4(RAG2):c.1365T>C (p.His455=) rs369276846 0.00001
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp) rs1479440369 0.00001
NM_000536.4(RAG2):c.1404T>C (p.His468=) rs528679382 0.00001
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323 0.00001
NM_000536.4(RAG2):c.1431C>T (p.Tyr477=) rs750878183 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.1483C>T (p.Leu495=) rs772985232 0.00001
NM_000536.4(RAG2):c.1485A>T (p.Leu495=) rs1416589328 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.288G>A (p.Gly96=) rs1312473059 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000536.4(RAG2):c.393A>C (p.Gly131=) rs1239959464 0.00001
NM_000536.4(RAG2):c.39C>A (p.Ala13=) rs753764938 0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) rs1315729938 0.00001
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln) rs779879427 0.00001
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250 0.00001
NM_000536.4(RAG2):c.528T>C (p.Ala176=) rs762907049 0.00001
NM_000536.4(RAG2):c.53G>T (p.Gly18Val) rs1851106893 0.00001
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) rs748727021 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000536.4(RAG2):c.687G>A (p.Arg229=) rs772031809 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.750A>G (p.Thr250=) rs747690737 0.00001
NM_000536.4(RAG2):c.752T>C (p.Val251Ala) rs755587413 0.00001
NM_000536.4(RAG2):c.756G>A (p.Leu252=) rs751957269 0.00001
NM_000536.4(RAG2):c.776C>T (p.Ser259Phe) rs758697173 0.00001
NM_000536.4(RAG2):c.859del (p.Cys287fs) rs754975137 0.00001
NM_000536.4(RAG2):c.941G>T (p.Ser314Ile) rs766257880 0.00001
NM_000536.4(RAG2):c.996A>G (p.Pro332=) rs771084047 0.00001
NC_000011.10:g.(?_36573285)_(36598102_?)del
NC_000011.9:g.(?_36614125)_(36615728_?)del
NM_000448.3(RAG1):c.1010C>G (p.Pro337Arg) rs2133294914
NM_000448.3(RAG1):c.1010del (p.Pro337fs)
NM_000448.3(RAG1):c.1014T>C (p.Thr338=)
NM_000448.3(RAG1):c.1020G>A (p.Leu340=) rs766653036
NM_000448.3(RAG1):c.1022A>G (p.Glu341Gly)
NM_000448.3(RAG1):c.1029A>G (p.Pro343=)
NM_000448.3(RAG1):c.1032G>A (p.Val344=) rs2133294964
NM_000448.3(RAG1):c.1039T>A (p.Phe347Ile)
NM_000448.3(RAG1):c.103G>A (p.Val35Met)
NM_000448.3(RAG1):c.1044G>A (p.Leu348=)
NM_000448.3(RAG1):c.1047C>T (p.Ser349=)
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.105G>A (p.Val35=)
NM_000448.3(RAG1):c.1096G>T (p.Glu366Ter)
NM_000448.3(RAG1):c.109T>G (p.Ser37Ala)
NM_000448.3(RAG1):c.1104T>C (p.Ser368=)
NM_000448.3(RAG1):c.1114T>C (p.Tyr372His) rs1850803486
NM_000448.3(RAG1):c.1116T>C (p.Tyr372=)
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.1148_1149del (p.Lys383fs)
NM_000448.3(RAG1):c.117A>G (p.Glu39=) rs2133292749
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) rs1850805503
NM_000448.3(RAG1):c.1188C>G (p.Arg396=)
NM_000448.3(RAG1):c.1197T>C (p.Leu399=)
NM_000448.3(RAG1):c.1203G>A (p.Ser401=)
NM_000448.3(RAG1):c.1203G>C (p.Ser401=)
NM_000448.3(RAG1):c.1203G>T (p.Ser401=) rs753446485
NM_000448.3(RAG1):c.1206G>A (p.Leu402=)
NM_000448.3(RAG1):c.1209T>A (p.Thr403=)
NM_000448.3(RAG1):c.120G>A (p.Lys40=)
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1213A>C (p.Arg405=)
NM_000448.3(RAG1):c.1231C>T (p.Leu411=)
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.3(RAG1):c.1233G>C (p.Leu411=)
NM_000448.3(RAG1):c.1246C>T (p.Leu416=) rs746944981
NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser) rs568838996
NM_000448.3(RAG1):c.126T>C (p.Pro42=)
NM_000448.3(RAG1):c.1280G>A (p.Gly427Asp)
NM_000448.3(RAG1):c.1282G>A (p.Gly428Arg) rs2133295410
NM_000448.3(RAG1):c.1296C>T (p.Ser432=) rs977419597
NM_000448.3(RAG1):c.1297del (p.Val433fs)
NM_000448.3(RAG1):c.129A>G (p.Glu43=)
NM_000448.3(RAG1):c.130G>A (p.Glu44Lys) rs1850778515
NM_000448.3(RAG1):c.1311G>A (p.Leu437=)
NM_000448.3(RAG1):c.1314C>T (p.Phe438=)
NM_000448.3(RAG1):c.1315C>T (p.Leu439=)
NM_000448.3(RAG1):c.1320G>A (p.Leu440=)
NM_000448.3(RAG1):c.1321G>T (p.Ala441Ser) rs1850809055
NM_000448.3(RAG1):c.1326G>T (p.Leu442=)
NM_000448.3(RAG1):c.1329G>A (p.Arg443=)
NM_000448.3(RAG1):c.1332G>A (p.Ala444=)
NM_000448.3(RAG1):c.1335G>A (p.Arg445=)
NM_000448.3(RAG1):c.1359G>T (p.Glu453Asp) rs1178216516
NM_000448.3(RAG1):c.135T>G (p.Ala45=)
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
NM_000448.3(RAG1):c.1371C>T (p.Ile457=)
NM_000448.3(RAG1):c.1380A>G (p.Gly460=)
NM_000448.3(RAG1):c.1386C>T (p.Gly462=)
NM_000448.3(RAG1):c.1392C>A (p.Gly464=)
NM_000448.3(RAG1):c.1392C>G (p.Gly464=)
NM_000448.3(RAG1):c.1395G>A (p.Leu465=)
NM_000448.3(RAG1):c.1410C>T (p.Cys470=)
NM_000448.3(RAG1):c.1411T>C (p.Leu471=)
NM_000448.3(RAG1):c.1416C>T (p.Ala472=)
NM_000448.3(RAG1):c.1425C>T (p.Val475=)
NM_000448.3(RAG1):c.1428C>T (p.Asn476=)
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.1440C>T (p.Ser480=) rs2133295757
NM_000448.3(RAG1):c.1452C>T (p.Tyr484=) rs1479971460
NM_000448.3(RAG1):c.1465A>G (p.Arg489Gly)
NM_000448.3(RAG1):c.1468A>G (p.Thr490Ala) rs1590703120
NM_000448.3(RAG1):c.1470T>C (p.Thr490=)
NM_000448.3(RAG1):c.1472T>C (p.Val491Ala) rs1198163896
NM_000448.3(RAG1):c.1485A>G (p.Thr495=)
NM_000448.3(RAG1):c.1488G>A (p.Gly496=)
NM_000448.3(RAG1):c.1494G>C (p.Gln498His) rs1850813830
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
NM_000448.3(RAG1):c.150G>A (p.Lys50=) rs1590701604
NM_000448.3(RAG1):c.1519C>A (p.Arg507=)
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.1534G>A (p.Val512Ile)
NM_000448.3(RAG1):c.1540C>T (p.Leu514=)
NM_000448.3(RAG1):c.1542G>A (p.Leu514=) rs1306263654
NM_000448.3(RAG1):c.1554C>A (p.His518Gln) rs750551821
NM_000448.3(RAG1):c.1554C>T (p.His518=)
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.1565G>A (p.Trp522Ter)
NM_000448.3(RAG1):c.1608C>T (p.Gly536=)
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs) rs749256215
NM_000448.3(RAG1):c.1613T>C (p.Ile538Thr)
NM_000448.3(RAG1):c.1623G>A (p.Leu541=)
NM_000448.3(RAG1):c.162G>A (p.Glu54=)
NM_000448.3(RAG1):c.1630C>T (p.Leu544=)
NM_000448.3(RAG1):c.1638C>T (p.Ser546=) rs1850817385
NM_000448.3(RAG1):c.1653C>G (p.Tyr551Ter)
NM_000448.3(RAG1):c.1653C>T (p.Tyr551=)
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.1677G>A (p.Arg559=)
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.1692A>C (p.Ser564=)
NM_000448.3(RAG1):c.1696T>C (p.Leu566=)
NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter)
NM_000448.3(RAG1):c.1736A>G (p.Glu579Gly)
NM_000448.3(RAG1):c.1746A>G (p.Arg582=)
NM_000448.3(RAG1):c.174T>C (p.Ser58=)
NM_000448.3(RAG1):c.1753G>A (p.Asp585Asn)
NM_000448.3(RAG1):c.1758_1760delinsGAATC (p.Asp587fs)
NM_000448.3(RAG1):c.175C>T (p.Leu59=)
NM_000448.3(RAG1):c.1761T>G (p.Asp587Glu) rs1554944973
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.1767C>T (p.Tyr589=)
NM_000448.3(RAG1):c.1768C>T (p.Leu590=)
NM_000448.3(RAG1):c.1798del (p.Glu600fs) rs2133296385
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.1836T>C (p.His612=)
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
NM_000448.3(RAG1):c.1864del (p.Ala622fs) rs1564989455
NM_000448.3(RAG1):c.1866A>C (p.Ala622=)
NM_000448.3(RAG1):c.186T>G (p.Ser62=)
NM_000448.3(RAG1):c.1875T>C (p.Phe625=)
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.1884A>T (p.Thr628=)
NM_000448.3(RAG1):c.1897A>G (p.Thr633Ala) rs2133296552
NM_000448.3(RAG1):c.189A>T (p.Pro63=)
NM_000448.3(RAG1):c.1902T>C (p.Ile634=)
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.1980T>C (p.Leu660=)
NM_000448.3(RAG1):c.1981A>G (p.Met661Val)
NM_000448.3(RAG1):c.1989A>C (p.Ala663=)
NM_000448.3(RAG1):c.1992T>A (p.Asp664Glu)
NM_000448.3(RAG1):c.2004C>G (p.His668Gln)
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) rs878853004
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.2010G>A (p.Thr670=)
NM_000448.3(RAG1):c.2011C>T (p.Leu671=) rs2133296754
NM_000448.3(RAG1):c.2018_2691delinsGCG (p.Ala673fs)
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.2033_2034del (p.Leu678fs)
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.2065G>T (p.Glu689Ter)
NM_000448.3(RAG1):c.206del (p.Ala69fs)
NM_000448.3(RAG1):c.2076T>C (p.Leu692=)
NM_000448.3(RAG1):c.2087G>A (p.Gly696Asp) rs1850828185
NM_000448.3(RAG1):c.2088C>A (p.Gly696=)
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln)
NM_000448.3(RAG1):c.2112C>T (p.Ile704=)
NM_000448.3(RAG1):c.2118G>A (p.Arg706=) rs2133296964
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser)
NM_000448.3(RAG1):c.2126G>C (p.Gly709Ala) rs1850829046
NM_000448.3(RAG1):c.2139A>G (p.Lys713=)
NM_000448.3(RAG1):c.213T>C (p.Gly71=)
NM_000448.3(RAG1):c.2140C>T (p.Leu714Phe) rs1590703656
NM_000448.3(RAG1):c.2143del (p.Val715fs)
NM_000448.3(RAG1):c.215A>G (p.Gln72Arg) rs781240450
NM_000448.3(RAG1):c.2160C>G (p.Gly720=)
NM_000448.3(RAG1):c.2160C>T (p.Gly720=)
NM_000448.3(RAG1):c.2178A>G (p.Ser726=)
NM_000448.3(RAG1):c.2181C>A (p.Val727=)
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.2196T>C (p.Leu732=)
NM_000448.3(RAG1):c.2196_2197del (p.Leu732_Cys733insTer)
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.219G>A (p.Lys73=)
NM_000448.3(RAG1):c.2202T>C (p.Asp734=) rs2133297123
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
NM_000448.3(RAG1):c.2228del (p.Asn743fs)
NM_000448.3(RAG1):c.2235C>T (p.Val745=) rs1850831770
NM_000448.3(RAG1):c.2248A>T (p.Thr750Ser) rs1850832170
NM_000448.3(RAG1):c.2250C>G (p.Thr750=)
NM_000448.3(RAG1):c.2251del (p.Arg751fs)
NM_000448.3(RAG1):c.2256C>T (p.Ser752=)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000448.3(RAG1):c.2276G>A (p.Arg759His) rs770953505
NM_000448.3(RAG1):c.2286C>G (p.Val762=)
NM_000448.3(RAG1):c.228A>G (p.Pro76=)
NM_000448.3(RAG1):c.2293T>A (p.Ser765Thr)
NM_000448.3(RAG1):c.2306A>G (p.His769Arg)
NM_000448.3(RAG1):c.2307T>C (p.His769=)
NM_000448.3(RAG1):c.2313T>C (p.Ser771=)
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2326C>A (p.Arg776=)
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2332C>A (p.Arg778=)
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp) rs752020152
NM_000448.3(RAG1):c.2343G>A (p.Gly781=)
NM_000448.3(RAG1):c.2343G>T (p.Gly781=) rs961233109
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2376T>A (p.Pro792=) rs2133297416
NM_000448.3(RAG1):c.237A>G (p.Pro79=)
NM_000448.3(RAG1):c.238T>C (p.Leu80=)
NM_000448.3(RAG1):c.2391C>T (p.Leu797=)
NM_000448.3(RAG1):c.2396G>A (p.Cys799Tyr) rs2133297443
NM_000448.3(RAG1):c.2410del (p.Ala804fs)
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val) rs2133297485
NM_000448.3(RAG1):c.2418G>A (p.Glu806=)
NM_000448.3(RAG1):c.2428A>T (p.Ile810Phe)
NM_000448.3(RAG1):c.2434C>T (p.Gln812Ter)
NM_000448.3(RAG1):c.2439A>G (p.Leu813=)
NM_000448.3(RAG1):c.243A>G (p.Leu81=)
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.2448G>A (p.Gly816=) rs1850836600
NM_000448.3(RAG1):c.2449G>T (p.Glu817Ter)
NM_000448.3(RAG1):c.2449del (p.Glu817fs)
NM_000448.3(RAG1):c.2458A>G (p.Lys820Glu) rs1429787378
NM_000448.3(RAG1):c.2463T>C (p.Asn821=)
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.2475del (p.Glu827fs) rs2133297611
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) rs1850837839
NM_000448.3(RAG1):c.248C>T (p.Ala83Val) rs1590701723
NM_000448.3(RAG1):c.2490A>G (p.Lys830=)
NM_000448.3(RAG1):c.2506C>T (p.Leu836=) rs757133059
NM_000448.3(RAG1):c.2520C>G (p.Leu840=)
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.252C>T (p.His84=)
NM_000448.3(RAG1):c.253C>T (p.Pro85Ser) rs754321019
NM_000448.3(RAG1):c.2545A>G (p.Ile849Val)
NM_000448.3(RAG1):c.2551A>C (p.Arg851=)
NM_000448.3(RAG1):c.2557_2560dup (p.Gly854fs)
NM_000448.3(RAG1):c.2580C>T (p.Leu860=)
NM_000448.3(RAG1):c.2598G>A (p.Val866=)
NM_000448.3(RAG1):c.2605G>T (p.Val869Phe) rs201313833
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)
NM_000448.3(RAG1):c.2615T>G (p.Leu872Ter) rs749360497
NM_000448.3(RAG1):c.2625C>G (p.Ser875=) rs200264827
NM_000448.3(RAG1):c.2625C>T (p.Ser875=) rs200264827
NM_000448.3(RAG1):c.2627del (p.Glu876fs)
NM_000448.3(RAG1):c.2646G>A (p.Leu882=)
NM_000448.3(RAG1):c.264A>T (p.Ser88=)
NM_000448.3(RAG1):c.2652G>A (p.Glu884=)
NM_000448.3(RAG1):c.2661T>C (p.Asp887=)
NM_000448.3(RAG1):c.2665T>C (p.Tyr889His) rs2133297952
NM_000448.3(RAG1):c.2668C>T (p.Leu890=)
NM_000448.3(RAG1):c.2685A>G (p.Val895=)
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.2692T>C (p.Ser898Pro)
NM_000448.3(RAG1):c.2700C>T (p.Cys900=)
NM_000448.3(RAG1):c.2709A>G (p.Lys903=) rs1850844060
NM_000448.3(RAG1):c.2730C>T (p.Cys910=)
NM_000448.3(RAG1):c.2732A>G (p.Gln911Arg)
NM_000448.3(RAG1):c.2733G>C (p.Gln911His) rs2133298067
NM_000448.3(RAG1):c.2736C>T (p.Tyr912=)
NM_000448.3(RAG1):c.2736_2737del (p.Tyr912_Ser913delinsTer) rs1317208073
NM_000448.3(RAG1):c.2738G>A (p.Ser913Asn)
NM_000448.3(RAG1):c.2742C>T (p.Phe914=)
NM_000448.3(RAG1):c.2745T>C (p.Asn915=)
NM_000448.3(RAG1):c.276C>A (p.His92Gln) rs550985019
NM_000448.3(RAG1):c.276C>T (p.His92=) rs550985019
NM_000448.3(RAG1):c.2775G>A (p.Thr925=)
NM_000448.3(RAG1):c.2778G>A (p.Lys926=)
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser)
NM_000448.3(RAG1):c.27G>A (p.Leu9=)
NM_000448.3(RAG1):c.2805C>T (p.Ile935=)
NM_000448.3(RAG1):c.2808C>T (p.Thr936=)
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.2832C>A (p.Ala944=)
NM_000448.3(RAG1):c.2832C>G (p.Ala944=) rs756495943
NM_000448.3(RAG1):c.2834A>G (p.His945Arg) rs1850847083
NM_000448.3(RAG1):c.2835T>C (p.His945=)
NM_000448.3(RAG1):c.284A>C (p.Glu95Ala)
NM_000448.3(RAG1):c.284A>G (p.Glu95Gly)
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2861G>T (p.Gly954Val) rs1850847509
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter) rs1850847819
NM_000448.3(RAG1):c.2878G>T (p.Ala960Ser) rs897086171
NM_000448.3(RAG1):c.2882G>A (p.Ser961Asn)
NM_000448.3(RAG1):c.2882_2891del (p.Ser961fs) rs1195475275
NM_000448.3(RAG1):c.2889A>G (p.Gly963=)
NM_000448.3(RAG1):c.2903_2907del (p.Asn968fs)
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.3(RAG1):c.2904C>T (p.Asn968=)
NM_000448.3(RAG1):c.2910G>A (p.Leu970=)
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) rs1384545687
NM_000448.3(RAG1):c.291A>C (p.Ala97=)
NM_000448.3(RAG1):c.2925G>A (p.Arg975=)
NM_000448.3(RAG1):c.2925G>T (p.Arg975=)
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr) rs1245287257
NM_000448.3(RAG1):c.2949A>G (p.Lys983=)
NM_000448.3(RAG1):c.2970C>A (p.Val990=) rs2133298485
NM_000448.3(RAG1):c.297C>G (p.Gly99=)
NM_000448.3(RAG1):c.297C>T (p.Gly99=)
NM_000448.3(RAG1):c.2988G>A (p.Leu996=)
NM_000448.3(RAG1):c.2994C>T (p.Thr998=)
NM_000448.3(RAG1):c.3009G>T (p.Gln1003His) rs1850850782
NM_000448.3(RAG1):c.3012G>A (p.Lys1004=) rs1850850830
NM_000448.3(RAG1):c.3019A>G (p.Asn1007Asp) rs2133298602
NM_000448.3(RAG1):c.3021T>G (p.Asn1007Lys)
NM_000448.3(RAG1):c.3033A>C (p.Ala1011=)
NM_000448.3(RAG1):c.303G>T (p.Ala101=)
NM_000448.3(RAG1):c.3042C>T (p.Thr1014=) rs1850851517
NM_000448.3(RAG1):c.3047G>A (p.Gly1016Glu)
NM_000448.3(RAG1):c.3054C>T (p.Thr1018=)
NM_000448.3(RAG1):c.3056T>C (p.Met1019Thr) rs1471962137
NM_000448.3(RAG1):c.305_312del (p.Ile102fs)
NM_000448.3(RAG1):c.3060C>T (p.Asn1020=)
NM_000448.3(RAG1):c.3061C>A (p.Pro1021Thr)
NM_000448.3(RAG1):c.3069A>G (p.Ala1023=)
NM_000448.3(RAG1):c.3071G>A (p.Ser1024Asn)
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.3078G>T (p.Gly1026=)
NM_000448.3(RAG1):c.3081C>T (p.Asp1027=)
NM_000448.3(RAG1):c.3083C>A (p.Pro1028Gln) rs771708758
NM_000448.3(RAG1):c.3084A>T (p.Pro1028=)
NM_000448.3(RAG1):c.3094G>C (p.Glu1032Gln)
NM_000448.3(RAG1):c.3096G>A (p.Glu1032=)
NM_000448.3(RAG1):c.3098A>G (p.Asp1033Gly)
NM_000448.3(RAG1):c.3103C>T (p.Leu1035=)
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.3120A>G (p.Ser1040=)
NM_000448.3(RAG1):c.3121A>G (p.Met1041Val)
NM_000448.3(RAG1):c.3126A>G (p.Glu1042=)
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.336dup (p.Ile113fs)
NM_000448.3(RAG1):c.337A>G (p.Ile113Val) rs2133293304
NM_000448.3(RAG1):c.340T>C (p.Cys114Arg)
NM_000448.3(RAG1):c.354del (p.Phe118fs)
NM_000448.3(RAG1):c.362A>C (p.Asp121Ala) rs780167146
NM_000448.3(RAG1):c.375G>A (p.Arg125=)
NM_000448.3(RAG1):c.386T>G (p.Val129Gly) rs1168709961
NM_000448.3(RAG1):c.399G>A (p.Val133=) rs1850785748
NM_000448.3(RAG1):c.404dup (p.Gly135_Lys136insTer)
NM_000448.3(RAG1):c.40G>A (p.Ala14Thr) rs765396585
NM_000448.3(RAG1):c.412C>T (p.Leu138=)
NM_000448.3(RAG1):c.420T>C (p.Leu140=)
NM_000448.3(RAG1):c.426A>C (p.Arg142=)
NM_000448.3(RAG1):c.432G>A (p.Lys144=) rs144430517
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.456G>A (p.Pro152=) rs368797111
NM_000448.3(RAG1):c.456G>T (p.Pro152=) rs368797111
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.468C>T (p.Ala156=) rs2133293553
NM_000448.3(RAG1):c.483C>A (p.Ile161=)
NM_000448.3(RAG1):c.483C>T (p.Ile161=)
NM_000448.3(RAG1):c.486T>C (p.Asp162=) rs753042511
NM_000448.3(RAG1):c.487G>T (p.Val163Leu)
NM_000448.3(RAG1):c.489G>A (p.Val163=)
NM_000448.3(RAG1):c.491A>G (p.Lys164Arg)
NM_000448.3(RAG1):c.495A>C (p.Ala165=) rs1288754505
NM_000448.3(RAG1):c.498T>C (p.Asp166=)
NM_000448.3(RAG1):c.499G>A (p.Val167Ile)
NM_000448.3(RAG1):c.506C>T (p.Ser169Leu) rs4151027
NM_000448.3(RAG1):c.517A>T (p.Thr173Ser) rs1424812134
NM_000448.3(RAG1):c.519T>A (p.Thr173=)
NM_000448.3(RAG1):c.519del (p.Glu174fs) rs1241698978
NM_000448.3(RAG1):c.522G>A (p.Glu174=)
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.546C>T (p.Ile182=)
NM_000448.3(RAG1):c.54del (p.Gln19fs)
NM_000448.3(RAG1):c.558G>A (p.Lys186=)
NM_000448.3(RAG1):c.561T>A (p.Phe187Leu)
NM_000448.3(RAG1):c.561T>C (p.Phe187=)
NM_000448.3(RAG1):c.569C>A (p.Ala190Asp) rs2133293827
NM_000448.3(RAG1):c.570C>T (p.Ala190=)
NM_000448.3(RAG1):c.579G>A (p.Glu193=)
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter)
NM_000448.3(RAG1):c.615C>T (p.His205=) rs760237407
NM_000448.3(RAG1):c.618C>G (p.Pro206=)
NM_000448.3(RAG1):c.621C>T (p.His207=)
NM_000448.3(RAG1):c.624A>C (p.Thr208=)
NM_000448.3(RAG1):c.625C>A (p.Pro209Thr) rs867348931
NM_000448.3(RAG1):c.627A>G (p.Pro209=)
NM_000448.3(RAG1):c.630C>G (p.Ser210=)
NM_000448.3(RAG1):c.633T>C (p.Cys211=) rs2133293994
NM_000448.3(RAG1):c.63A>C (p.Pro21=)
NM_000448.3(RAG1):c.645C>T (p.Asn215=)
NM_000448.3(RAG1):c.648T>A (p.Thr216=) rs762860350
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.659del (p.Gly220fs)
NM_000448.3(RAG1):c.660A>G (p.Gly220=)
NM_000448.3(RAG1):c.663C>T (p.Leu221=)
NM_000448.3(RAG1):c.669G>A (p.Arg223=)
NM_000448.3(RAG1):c.66T>C (p.His22=)
NM_000448.3(RAG1):c.688T>C (p.Leu230=)
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
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.741T>G (p.Arg247=)
NM_000448.3(RAG1):c.753A>G (p.Arg251=)
NM_000448.3(RAG1):c.754A>C (p.Arg252=)
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000448.3(RAG1):c.776G>T (p.Ser259Ile)
NM_000448.3(RAG1):c.777C>T (p.Ser259=)
NM_000448.3(RAG1):c.78A>G (p.Ser26=) rs1590701535
NM_000448.3(RAG1):c.791AGA[1] (p.Lys265del) rs766378998
NM_000448.3(RAG1):c.798C>T (p.Ile266=)
NM_000448.3(RAG1):c.800C>G (p.Ala267Gly) rs1002699516
NM_000448.3(RAG1):c.803A>C (p.Asn268Thr)
NM_000448.3(RAG1):c.804C>T (p.Asn268=)
NM_000448.3(RAG1):c.825T>C (p.Ser275=)
NM_000448.3(RAG1):c.826A>G (p.Thr276Ala) rs2133294507
NM_000448.3(RAG1):c.834C>T (p.Leu278=)
NM_000448.3(RAG1):c.840A>G (p.Ala280=)
NM_000448.3(RAG1):c.843G>A (p.Val281=)
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.870C>T (p.Ser290=)
NM_000448.3(RAG1):c.875C>G (p.Ser292Cys) rs1225342881
NM_000448.3(RAG1):c.876C>A (p.Ser292=)
NM_000448.3(RAG1):c.882G>T (p.Gln294His)
NM_000448.3(RAG1):c.887G>C (p.Cys296Ser) rs2133294646
NM_000448.3(RAG1):c.888T>C (p.Cys296=)
NM_000448.3(RAG1):c.918C>G (p.Thr306=)
NM_000448.3(RAG1):c.920A>G (p.Asn307Ser)
NM_000448.3(RAG1):c.924T>C (p.Cys308=)
NM_000448.3(RAG1):c.937del (p.Cys313fs)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000448.3(RAG1):c.941G>A (p.Arg314Gln)
NM_000448.3(RAG1):c.946T>A (p.Cys316Ser)
NM_000448.3(RAG1):c.954C>T (p.Leu318=) rs752257404
NM_000448.3(RAG1):c.963C>G (p.Leu321=)
NM_000448.3(RAG1):c.970A>G (p.Met324Val)
NM_000448.3(RAG1):c.974G>A (p.Gly325Asp)
NM_000448.3(RAG1):c.980A>G (p.Tyr327Cys)
NM_000448.3(RAG1):c.98T>A (p.Phe33Tyr) rs2133292699
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) rs568867325
NM_000448.3(RAG1):c.9C>T (p.Ala3=)
NM_000536.4(RAG2):c.1005T>C (p.Asn335=)
NM_000536.4(RAG2):c.1020A>C (p.Ser340=) rs2133312644
NM_000536.4(RAG2):c.1024G>T (p.Gly342Ter)
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu) rs367615315
NM_000536.4(RAG2):c.102del (p.Gly35fs)
NM_000536.4(RAG2):c.1038T>C (p.Tyr346=) rs1174918583
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser)
NM_000536.4(RAG2):c.1046A>G (p.Lys349Arg)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer) rs1851062418
NM_000536.4(RAG2):c.1053dup (p.Glu352Ter) rs2133312509
NM_000536.4(RAG2):c.1062T>C (p.Asp354=)
NM_000536.4(RAG2):c.1068T>C (p.Asn356=)
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.1104_1321del (p.Thr369fs)
NM_000536.4(RAG2):c.1117G>A (p.Gly373Arg)
NM_000536.4(RAG2):c.111C>A (p.Pro37=) rs1851104820
NM_000536.4(RAG2):c.1127C>G (p.Thr376Ser) rs192958391
NM_000536.4(RAG2):c.1130C>T (p.Pro377Leu)
NM_000536.4(RAG2):c.1131del (p.Phe378fs)
NM_000536.4(RAG2):c.1140C>T (p.Asp380=) rs1851059503
NM_000536.4(RAG2):c.1145A>G (p.Glu382Gly)
NM_000536.4(RAG2):c.1149A>G (p.Glu383=)
NM_000536.4(RAG2):c.114A>G (p.Lys38=)
NM_000536.4(RAG2):c.1158C>T (p.Phe386=)
NM_000536.4(RAG2):c.1164A>G (p.Ala388=) rs1230311707
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.1210G>T (p.Glu404Ter)
NM_000536.4(RAG2):c.1221A>G (p.Glu407=) rs2133311856
NM_000536.4(RAG2):c.1221AGA[1] (p.Glu408del) rs1485140631
NM_000536.4(RAG2):c.1227T>C (p.Asp409=)
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr)
NM_000536.4(RAG2):c.1230G>A (p.Glu410=)
NM_000536.4(RAG2):c.1236G>A (p.Glu412=)
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.123C>T (p.Cys41=)
NM_000536.4(RAG2):c.1240_1241delinsAA (p.Gly414Asn) rs2133311785
NM_000536.4(RAG2):c.1242C>A (p.Gly414=) rs2133311776
NM_000536.4(RAG2):c.1245C>T (p.Tyr415=) rs2133311764
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1251T>A (p.Ile417=) rs748248673
NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp)
NM_000536.4(RAG2):c.125C>T (p.Pro42Leu) rs2133316235
NM_000536.4(RAG2):c.1269T>C (p.Cys423=)
NM_000536.4(RAG2):c.126C>T (p.Pro42=)
NM_000536.4(RAG2):c.1275_1278dup (p.Ile427fs) rs1470797202
NM_000536.4(RAG2):c.1282A>C (p.Asn428His) rs757316422
NM_000536.4(RAG2):c.1283A>T (p.Asn428Ile)
NM_000536.4(RAG2):c.1284C>T (p.Asn428=) rs2133311606
NM_000536.4(RAG2):c.129T>C (p.Thr43=)
NM_000536.4(RAG2):c.1308T>C (p.Thr436=)
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1326C>T (p.Ala442=) rs1323571407
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr) rs1406618487
NM_000536.4(RAG2):c.1329G>C (p.Met443Ile)
NM_000536.4(RAG2):c.1332C>A (p.Ile444=)
NM_000536.4(RAG2):c.1334dup (p.Tyr445Ter)
NM_000536.4(RAG2):c.1338C>T (p.Cys446=) rs1564995660
NM_000536.4(RAG2):c.1344T>C (p.His448=) rs2133311351
NM_000536.4(RAG2):c.1346G>C (p.Gly449Ala)
NM_000536.4(RAG2):c.1347G>A (p.Gly449=)
NM_000536.4(RAG2):c.1348del (p.Asp450fs)
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1362C>T (p.Val454=) rs2133311306
NM_000536.4(RAG2):c.1368T>G (p.Ala456=)
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) rs1204766339
NM_000536.4(RAG2):c.1375A>G (p.Met459Val)
NM_000536.4(RAG2):c.1381C>T (p.Leu461=) rs1342591484
NM_000536.4(RAG2):c.1384G>A (p.Ala462Thr)
NM_000536.4(RAG2):c.1389A>G (p.Glu463=) rs2133311205
NM_000536.4(RAG2):c.138C>T (p.Phe46=)
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.1391G>C (p.Arg464Pro)
NM_000536.4(RAG2):c.1392C>T (p.Arg464=)
NM_000536.4(RAG2):c.1395A>C (p.Thr465=) rs2133311165
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
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.1403_1404dup (p.Leu469fs) rs2133311139
NM_000536.4(RAG2):c.1403_1406del (p.His468fs) rs786205616
NM_000536.4(RAG2):c.1405C>T (p.Leu469=)
NM_000536.4(RAG2):c.140_141delinsTG (p.His47Leu)
NM_000536.4(RAG2):c.1413A>C (p.Ala471=)
NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg) rs1413100202
NM_000536.4(RAG2):c.1441C>G (p.His481Asp)
NM_000536.4(RAG2):c.1442A>G (p.His481Arg)
NM_000536.4(RAG2):c.1444G>A (p.Val482Met)
NM_000536.4(RAG2):c.1447G>A (p.Glu483Lys) rs1204454135
NM_000536.4(RAG2):c.1449G>A (p.Glu483=)
NM_000536.4(RAG2):c.1461T>G (p.Ala487=)
NM_000536.4(RAG2):c.1467C>G (p.His489Gln)
NM_000536.4(RAG2):c.1470T>G (p.Thr490=) rs2133310961
NM_000536.4(RAG2):c.1473C>G (p.Pro491=)
NM_000536.4(RAG2):c.1473C>T (p.Pro491=) rs1234811101
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.1488C>T (p.Pro496=) rs2133310869
NM_000536.4(RAG2):c.1491A>G (p.Leu497=) rs2133310853
NM_000536.4(RAG2):c.1491_1506A[6]GCCTCCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCCAATG[1] (p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer)
NM_000536.4(RAG2):c.1497G>A (p.Lys499=) rs2133310820
NM_000536.4(RAG2):c.1501C>G (p.Pro501Ala) rs781104028
NM_000536.4(RAG2):c.1515C>A (p.Leu505=) rs577434324
NM_000536.4(RAG2):c.1515C>T (p.Leu505=)
NM_000536.4(RAG2):c.1518T>C (p.Arg506=) rs2133310732
NM_000536.4(RAG2):c.1527T>G (p.Gly509=) rs2133310703
NM_000536.4(RAG2):c.1531G>T (p.Gly511Ter) rs757841294
NM_000536.4(RAG2):c.1532del (p.Gly511fs) rs2133310689
NM_000536.4(RAG2):c.1533A>G (p.Gly511=) rs2133310675
NM_000536.4(RAG2):c.153G>A (p.Lys51=)
NM_000536.4(RAG2):c.1545T>G (p.Thr515=)
NM_000536.4(RAG2):c.1546C>T (p.Pro516Ser)
NM_000536.4(RAG2):c.1560C>T (p.Ser520=) rs1310165990
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.1566T>G (p.Leu522=) rs2133310595
NM_000536.4(RAG2):c.156T>A (p.His52Gln)
NM_000536.4(RAG2):c.1573T>C (p.Leu525=) rs1851039823
NM_000536.4(RAG2):c.1575G>A (p.Leu525=)
NM_000536.4(RAG2):c.1581T>G (p.Asp527Glu) rs1851039632
NM_000536.4(RAG2):c.161A>G (p.His54Arg)
NM_000536.4(RAG2):c.162T>C (p.His54=) rs2133316015
NM_000536.4(RAG2):c.165C>T (p.Val55=) rs777813230
NM_000536.4(RAG2):c.16G>A (p.Val6Ile)
NM_000536.4(RAG2):c.180A>C (p.Thr60=)
NM_000536.4(RAG2):c.180A>G (p.Thr60=) rs1345213365
NM_000536.4(RAG2):c.186C>G (p.Phe62Leu)
NM_000536.4(RAG2):c.189dup (p.Lys64Ter)
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.195T>C (p.Asp65=) rs2133315880
NM_000536.4(RAG2):c.1A>G (p.Met1Val) rs1564997814
NM_000536.4(RAG2):c.207C>G (p.Leu69=) rs2133315845
NM_000536.4(RAG2):c.207C>T (p.Leu69=)
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly)
NM_000536.4(RAG2):c.21A>G (p.Thr7=)
NM_000536.4(RAG2):c.228C>T (p.Ala76=)
NM_000536.4(RAG2):c.231T>C (p.Thr77=) rs2133315742
NM_000536.4(RAG2):c.237A>C (p.Thr79=)
NM_000536.4(RAG2):c.238T>A (p.Phe80Ile) rs762369105
NM_000536.4(RAG2):c.243A>G (p.Lys81=)
NM_000536.4(RAG2):c.243del (p.Gly82fs) rs1851098227
NM_000536.4(RAG2):c.24C>G (p.Val8=)
NM_000536.4(RAG2):c.24C>T (p.Val8=) rs2133316604
NM_000536.4(RAG2):c.253G>C (p.Glu85Gln)
NM_000536.4(RAG2):c.258T>C (p.Ser86=) rs2133315667
NM_000536.4(RAG2):c.264G>A (p.Lys88=)
NM_000536.4(RAG2):c.265C>T (p.His89Tyr) rs918106600
NM_000536.4(RAG2):c.270A>G (p.Gln90=)
NM_000536.4(RAG2):c.272_278del (p.Tyr91fs)
NM_000536.4(RAG2):c.273C>T (p.Tyr91=)
NM_000536.4(RAG2):c.276C>A (p.Ile92=) rs2133315563
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu)
NM_000536.4(RAG2):c.286G>A (p.Gly96Arg)
NM_000536.4(RAG2):c.292A>G (p.Thr98Ala)
NM_000536.4(RAG2):c.293del (p.Thr98fs) rs1851096223
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys)
NM_000536.4(RAG2):c.306G>A (p.Glu102=)
NM_000536.4(RAG2):c.312A>C (p.Ser104=) rs2133315415
NM_000536.4(RAG2):c.321T>A (p.Ile107=)
NM_000536.4(RAG2):c.321T>C (p.Ile107=)
NM_000536.4(RAG2):c.327C>T (p.Val109=)
NM_000536.4(RAG2):c.336T>C (p.Ile112=) rs2133315304
NM_000536.4(RAG2):c.356A>T (p.Lys119Met)
NM_000536.4(RAG2):c.358del (p.Val120fs) rs1342428152
NM_000536.4(RAG2):c.361_364del (p.Thr121fs)
NM_000536.4(RAG2):c.362C>T (p.Thr121Ile) rs764684990
NM_000536.4(RAG2):c.376G>C (p.Glu126Gln)
NM_000536.4(RAG2):c.385_389del (p.Leu129fs) rs1164927451
NM_000536.4(RAG2):c.395A>G (p.Asp132Gly) rs375033313
NM_000536.4(RAG2):c.396T>C (p.Asp132=) rs2133315007
NM_000536.4(RAG2):c.39C>T (p.Ala13=) rs753764938
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.407C>T (p.Ala136Val) rs1851091277
NM_000536.4(RAG2):c.409A>C (p.Arg137=)
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396
NM_000536.4(RAG2):c.429T>C (p.Asn143=) rs2133314898
NM_000536.4(RAG2):c.434T>C (p.Val145Ala) rs1851090191
NM_000536.4(RAG2):c.435G>A (p.Val145=) rs1851090044
NM_000536.4(RAG2):c.438C>T (p.Tyr146=)
NM_000536.4(RAG2):c.442C>A (p.Arg148=)
NM_000536.4(RAG2):c.446G>A (p.Gly149Glu) rs1487032318
NM_000536.4(RAG2):c.447G>A (p.Gly149=) rs2133314798
NM_000536.4(RAG2):c.456G>A (p.Met152Ile) rs2133314764
NM_000536.4(RAG2):c.459T>A (p.Gly153=) rs1406563782
NM_000536.4(RAG2):c.459T>C (p.Gly153=) rs1406563782
NM_000536.4(RAG2):c.461T>C (p.Val154Ala)
NM_000536.4(RAG2):c.464T>A (p.Leu155His) rs1064793250
NM_000536.4(RAG2):c.469G>A (p.Gly157Arg) rs756676209
NM_000536.4(RAG2):c.470G>C (p.Gly157Ala) rs1564997121
NM_000536.4(RAG2):c.473G>T (p.Gly158Val)
NM_000536.4(RAG2):c.476G>A (p.Arg159His) rs2133314621
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
NM_000536.4(RAG2):c.47_57del (p.Gln16fs) rs2133316487
NM_000536.4(RAG2):c.480A>G (p.Ser160=) rs1405801746
NM_000536.4(RAG2):c.483C>T (p.Tyr161=) rs2133314575
NM_000536.4(RAG2):c.486G>A (p.Met162Ile)
NM_000536.4(RAG2):c.489T>G (p.Pro163=) rs2133314533
NM_000536.4(RAG2):c.497A>G (p.His166Arg) rs1851085524
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.507A>T (p.Thr169=) rs2133314493
NM_000536.4(RAG2):c.510A>G (p.Glu170=)
NM_000536.4(RAG2):c.513A>G (p.Lys171=)
NM_000536.4(RAG2):c.516G>C (p.Trp172Cys)
NM_000536.4(RAG2):c.519T>C (p.Asn173=)
NM_000536.4(RAG2):c.51A>G (p.Pro17=) rs569058130
NM_000536.4(RAG2):c.525A>C (p.Val175=)
NM_000536.4(RAG2):c.532T>C (p.Cys178Arg)
NM_000536.4(RAG2):c.535del (p.Leu179fs) rs2133314424
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg) rs1564996998
NM_000536.4(RAG2):c.543T>C (p.Cys181=) rs1851083875
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
NM_000536.4(RAG2):c.558T>C (p.Asp186=) rs2133314307
NM_000536.4(RAG2):c.562G>C (p.Glu188Gln) rs1554947160
NM_000536.4(RAG2):c.564A>G (p.Glu188=) rs1171394750
NM_000536.4(RAG2):c.576T>C (p.Ala192=)
NM_000536.4(RAG2):c.579A>G (p.Thr193=) rs2133314241
NM_000536.4(RAG2):c.585C>T (p.Tyr195=) rs1851082204
NM_000536.4(RAG2):c.598C>A (p.Leu200Ile) rs2133314147
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu) rs1851081720
NM_000536.4(RAG2):c.60A>G (p.Ser20=)
NM_000536.4(RAG2):c.624C>T (p.Val208=)
NM_000536.4(RAG2):c.638dup (p.Asn213fs) rs1851080959
NM_000536.4(RAG2):c.642C>T (p.Asp214=)
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.648C>A (p.Ile216=) rs1851080584
NM_000536.4(RAG2):c.651T>C (p.Tyr217=) rs887816498
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn)
NM_000536.4(RAG2):c.65T>C (p.Met22Thr)
NM_000536.4(RAG2):c.666T>C (p.His222=)
NM_000536.4(RAG2):c.671T>G (p.Leu224Arg)
NM_000536.4(RAG2):c.672T>C (p.Leu224=)
NM_000536.4(RAG2):c.675C>G (p.Ala225=) rs368808756
NM_000536.4(RAG2):c.681T>C (p.Asn227=) rs1590715665
NM_000536.4(RAG2):c.684C>T (p.Ile228=) rs145031483
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.686G>T (p.Arg229Leu) rs121917894
NM_000536.4(RAG2):c.696C>T (p.Asn232=) rs2133313876
NM_000536.4(RAG2):c.714T>C (p.Val238=)
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.723C>A (p.Pro241=) rs1436212234
NM_000536.4(RAG2):c.723C>G (p.Pro241=) rs1436212234
NM_000536.4(RAG2):c.724C>T (p.Leu242=) rs1326387652
NM_000536.4(RAG2):c.724del (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.724dup (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.726G>A (p.Leu242=)
NM_000536.4(RAG2):c.72T>C (p.Phe24=)
NM_000536.4(RAG2):c.740T>A (p.Val247Glu) rs2133313736
NM_000536.4(RAG2):c.743del (p.Asn248fs) rs2133313716
NM_000536.4(RAG2):c.744T>A (p.Asn248Lys)
NM_000536.4(RAG2):c.747C>T (p.Cys249=)
NM_000536.4(RAG2):c.753C>T (p.Val251=)
NM_000536.4(RAG2):c.759A>G (p.Pro253=)
NM_000536.4(RAG2):c.75T>C (p.Asp25=) rs2133316403
NM_000536.4(RAG2):c.764G>T (p.Gly255Val) rs780531526
NM_000536.4(RAG2):c.766A>C (p.Ile256Leu)
NM_000536.4(RAG2):c.770_771del (p.Ser257fs) rs2133313582
NM_000536.4(RAG2):c.771T>C (p.Ser257=)
NM_000536.4(RAG2):c.772G>A (p.Val258Ile)
NM_000536.4(RAG2):c.780T>C (p.Ser260=) rs750603413
NM_000536.4(RAG2):c.786C>A (p.Ile262=)
NM_000536.4(RAG2):c.786C>T (p.Ile262=) rs2133313518
NM_000536.4(RAG2):c.787C>T (p.Leu263=) rs2133313501
NM_000536.4(RAG2):c.789G>A (p.Leu263=) rs1213333392
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.822T>C (p.Val274=)
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser) rs1851074701
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
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.84T>A (p.Val28=)
NM_000536.4(RAG2):c.84T>C (p.Val28=)
NM_000536.4(RAG2):c.852A>G (p.Arg284=)
NM_000536.4(RAG2):c.863del (p.Asn288fs) rs755941834
NM_000536.4(RAG2):c.864C>T (p.Asn288=)
NM_000536.4(RAG2):c.870C>T (p.Ile290=)
NM_000536.4(RAG2):c.873T>C (p.Ser291=) rs2133313201
NM_000536.4(RAG2):c.882C>T (p.Asp294=) rs1320386370
NM_000536.4(RAG2):c.884A>G (p.Asn295Ser) rs770231022
NM_000536.4(RAG2):c.895del (p.Ile299fs) rs2133313100
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.909G>A (p.Glu303=) rs141025671
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala) rs370666759
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu)
NM_000536.4(RAG2):c.915A>G (p.Pro305=) rs751463938
NM_000536.4(RAG2):c.916G>T (p.Asp306Tyr)
NM_000536.4(RAG2):c.924C>G (p.Thr308=)
NM_000536.4(RAG2):c.930C>T (p.Asp310=) rs2133312954
NM_000536.4(RAG2):c.931A>G (p.Ile311Val)
NM_000536.4(RAG2):c.932T>C (p.Ile311Thr) rs1851070055
NM_000536.4(RAG2):c.936G>A (p.Lys312=)
NM_000536.4(RAG2):c.948A>C (p.Ile316=)
NM_000536.4(RAG2):c.948A>G (p.Ile316Met) rs545910812
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
NM_000536.4(RAG2):c.951G>T (p.Trp317Cys)
NM_000536.4(RAG2):c.954del (p.Phe318fs) rs2133312873
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)
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.984del (p.Gly330fs)
NM_000536.4(RAG2):c.987T>A (p.Leu329=)
NM_000536.4(RAG2):c.995C>G (p.Pro332Arg)
NM_000536.4(RAG2):c.998G>A (p.Gly333Glu)
NM_000536.4(RAG2):c.9G>C (p.Leu3=)

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