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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1134
Download table as spreadsheet
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.101G>A (p.Arg34Gln) rs377307948 0.00008
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.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_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.68A>G (p.Asn23Ser) rs751073669 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.102G>T (p.Arg34=)
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.1076C>T (p.Pro359Leu)
NM_000448.3(RAG1):c.108A>G (p.Arg36=)
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.1208C>T (p.Thr403Ile)
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.1227C>T (p.His409=)
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.1369A>G (p.Ile457Val)
NM_000448.3(RAG1):c.1371C>T (p.Ile457=)
NM_000448.3(RAG1):c.1380A>G (p.Gly460=)
NM_000448.3(RAG1):c.1386C>G (p.Gly462=)
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.1656A>C (p.Pro552=)
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.1710G>A (p.Leu570=)
NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter)
NM_000448.3(RAG1):c.1734G>A (p.Leu578=)
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.1791G>A (p.Val597=)
NM_000448.3(RAG1):c.1798del (p.Glu600fs) rs2133296385
NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)
NM_000448.3(RAG1):c.1800G>A (p.Glu600=)
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.1838G>C (p.Gly613Ala)
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.1905C>T (p.Ala635=)
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.198G>A (p.Leu66=)
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.225C>T (p.Val75=)
NM_000448.3(RAG1):c.2271G>A (p.Leu757=)
NM_000448.3(RAG1):c.2274A>G (p.Glu758=)
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.2337G>A (p.Val779=)
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.2447G>A (p.Gly816Glu)
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.2595T>C (p.Thr865=)
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.270del (p.Lys90fs)
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.2772_2773insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCATCTCCTGACCTATAGATCCACCAGCCTCTTCATCCAAAAGTGCTTGGATTACAGGCTTCAGCCACCGCGCCCGGCCT (p.Thr925delinsPhePhePhePhePhePheXaaXaaXaaXaaSerIleSerTer)
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.288A>G (p.Lys96=)
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.2954A>G (p.Tyr985Cys)
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.3048G>A (p.Gly1016=)
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.315C>T (p.Ala105=)
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.321T>C (p.Leu107=)
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.39T>G (p.Ser13=)
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.507G>A (p.Ser169=)
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.536G>A (p.Cys179Tyr)
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.691C>T (p.Gln231Ter)
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.876C>G (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.906C>T (p.Asp302=)
NM_000448.3(RAG1):c.909T>C (p.Pro303=)
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.1035C>T (p.Phe345=)
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.1060G>A (p.Asp354Asn)
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.1105A>G (p.Thr369Ala)
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.1212A>G (p.Glu404=)
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.274A>G (p.Ile92Val)
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.300C>T (p.Asn100=)
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.375A>G (p.Thr125=)
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.418C>T (p.His140Tyr) rs147155709
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.458G>A (p.Gly153Asp)
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.607G>A (p.Gly203Arg)
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>C (p.Pro253=)
NM_000536.4(RAG2):c.759A>G (p.Pro253=)
NM_000536.4(RAG2):c.75T>C (p.Asp25=) rs2133316403
NM_000536.4(RAG2):c.763G>A (p.Gly255Arg)
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.861C>T (p.Cys287=)
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.913C>T (p.Pro305Ser)
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.950G>T (p.Trp317Leu)
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.