ClinVar Miner

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

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Minimum conflict level:
ClinVar version:
Total variants: 463
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HGVS dbSNP gnomAD frequency
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_000448.3(RAG1):c.295G>A (p.Gly99Ser) rs138676205 0.00093
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.477C>T (p.Arg159=) rs141659100 0.00037
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_000448.3(RAG1):c.1154T>C (p.Ile385Thr) rs141049427 0.00019
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.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_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.156C>T (p.Ser52=) rs544850214 0.00008
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.1665C>T (p.Thr555=) rs141265699 0.00006
NM_000536.4(RAG2):c.213T>C (p.Pro71=) rs751114608 0.00006
NM_000536.4(RAG2):c.1251T>C (p.Ile417=) rs748248673 0.00005
NM_000536.4(RAG2):c.417T>G (p.Gly139=) rs373022390 0.00005
NM_000448.3(RAG1):c.1524T>C (p.Asn508=) rs370855517 0.00004
NM_000448.3(RAG1):c.2004C>T (p.His668=) rs1367781663 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.486T>A (p.Asp162Glu) rs753042511 0.00004
NM_000448.3(RAG1):c.819T>C (p.His273=) rs769498487 0.00004
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611 0.00004
NM_000448.3(RAG1):c.1809T>C (p.Asp603=) rs763827932 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.37T>G (p.Ser13Ala) rs760746448 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_000448.3(RAG1):c.1236G>A (p.Arg412=) rs373408080 0.00002
NM_000448.3(RAG1):c.258G>A (p.Lys86=) rs755158171 0.00002
NM_000448.3(RAG1):c.378A>G (p.Arg126=) rs748499180 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.1191T>C (p.Asp397=) rs752248630 0.00002
NM_000536.4(RAG2):c.140A>T (p.His47Leu) rs776913146 0.00002
NM_000536.4(RAG2):c.174G>A (p.Lys58=) rs202020106 0.00002
NM_000448.3(RAG1):c.1239G>A (p.Glu413=) rs1850807745 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.1632A>G (p.Leu544=) rs762586430 0.00001
NM_000448.3(RAG1):c.1974G>A (p.Leu658=) rs1481299078 0.00001
NM_000448.3(RAG1):c.2082G>A (p.Leu694=) rs1850828097 0.00001
NM_000448.3(RAG1):c.2124C>T (p.Thr708=) rs578086152 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.2325G>A (p.Leu775=) rs766907859 0.00001
NM_000448.3(RAG1):c.2481G>A (p.Glu827=) rs1304782664 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.2991C>T (p.Tyr997=) rs368169159 0.00001
NM_000448.3(RAG1):c.3084A>G (p.Pro1028=) rs1238573903 0.00001
NM_000448.3(RAG1):c.47A>G (p.Asp16Gly) rs751834545 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.831G>A (p.Lys277=) rs1376996089 0.00001
NM_000448.3(RAG1):c.996A>T (p.Arg332=) rs1428825905 0.00001
NM_000536.4(RAG2):c.1131C>T (p.Pro377=) rs777940606 0.00001
NM_000536.4(RAG2):c.1209T>C (p.Asn403=) rs1351286949 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.1404T>C (p.His468=) rs528679382 0.00001
NM_000536.4(RAG2):c.1431C>T (p.Tyr477=) rs750878183 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.288G>A (p.Gly96=) rs1312473059 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.528T>C (p.Ala176=) rs762907049 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.687G>A (p.Arg229=) rs772031809 0.00001
NM_000536.4(RAG2):c.750A>G (p.Thr250=) rs747690737 0.00001
NM_000536.4(RAG2):c.756G>A (p.Leu252=) rs751957269 0.00001
NM_000536.4(RAG2):c.996A>G (p.Pro332=) rs771084047 0.00001
NM_000448.3(RAG1):c.1014T>C (p.Thr338=)
NM_000448.3(RAG1):c.1020G>A (p.Leu340=) rs766653036
NM_000448.3(RAG1):c.1029A>G (p.Pro343=)
NM_000448.3(RAG1):c.1032G>A (p.Val344=) rs2133294964
NM_000448.3(RAG1):c.1044G>A (p.Leu348=)
NM_000448.3(RAG1):c.1047C>T (p.Ser349=)
NM_000448.3(RAG1):c.105G>A (p.Val35=)
NM_000448.3(RAG1):c.1104T>C (p.Ser368=)
NM_000448.3(RAG1):c.1116T>C (p.Tyr372=)
NM_000448.3(RAG1):c.117A>G (p.Glu39=) rs2133292749
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.1213A>C (p.Arg405=)
NM_000448.3(RAG1):c.1231C>T (p.Leu411=)
NM_000448.3(RAG1):c.1233G>C (p.Leu411=)
NM_000448.3(RAG1):c.1246C>T (p.Leu416=) rs746944981
NM_000448.3(RAG1):c.126T>C (p.Pro42=)
NM_000448.3(RAG1):c.1296C>T (p.Ser432=) rs977419597
NM_000448.3(RAG1):c.129A>G (p.Glu43=)
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.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.135T>G (p.Ala45=)
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.1440C>T (p.Ser480=) rs2133295757
NM_000448.3(RAG1):c.1452C>T (p.Tyr484=) rs1479971460
NM_000448.3(RAG1):c.1470T>C (p.Thr490=)
NM_000448.3(RAG1):c.1485A>G (p.Thr495=)
NM_000448.3(RAG1):c.1488G>A (p.Gly496=)
NM_000448.3(RAG1):c.150G>A (p.Lys50=) rs1590701604
NM_000448.3(RAG1):c.1519C>A (p.Arg507=)
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>T (p.His518=)
NM_000448.3(RAG1):c.1608C>T (p.Gly536=)
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>T (p.Tyr551=)
NM_000448.3(RAG1):c.1677G>A (p.Arg559=)
NM_000448.3(RAG1):c.1692A>C (p.Ser564=)
NM_000448.3(RAG1):c.1696T>C (p.Leu566=)
NM_000448.3(RAG1):c.1746A>G (p.Arg582=)
NM_000448.3(RAG1):c.174T>C (p.Ser58=)
NM_000448.3(RAG1):c.175C>T (p.Leu59=)
NM_000448.3(RAG1):c.1767C>T (p.Tyr589=)
NM_000448.3(RAG1):c.1768C>T (p.Leu590=)
NM_000448.3(RAG1):c.1836T>C (p.His612=)
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.1884A>T (p.Thr628=)
NM_000448.3(RAG1):c.189A>T (p.Pro63=)
NM_000448.3(RAG1):c.1902T>C (p.Ile634=)
NM_000448.3(RAG1):c.1980T>C (p.Leu660=)
NM_000448.3(RAG1):c.1989A>C (p.Ala663=)
NM_000448.3(RAG1):c.2010G>A (p.Thr670=)
NM_000448.3(RAG1):c.2011C>T (p.Leu671=) rs2133296754
NM_000448.3(RAG1):c.2076T>C (p.Leu692=)
NM_000448.3(RAG1):c.2088C>A (p.Gly696=)
NM_000448.3(RAG1):c.2112C>T (p.Ile704=)
NM_000448.3(RAG1):c.2118G>A (p.Arg706=) rs2133296964
NM_000448.3(RAG1):c.2139A>G (p.Lys713=)
NM_000448.3(RAG1):c.213T>C (p.Gly71=)
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.2196T>C (p.Leu732=)
NM_000448.3(RAG1):c.219G>A (p.Lys73=)
NM_000448.3(RAG1):c.2202T>C (p.Asp734=) rs2133297123
NM_000448.3(RAG1):c.2235C>T (p.Val745=) rs1850831770
NM_000448.3(RAG1):c.2250C>G (p.Thr750=)
NM_000448.3(RAG1):c.2256C>T (p.Ser752=)
NM_000448.3(RAG1):c.2286C>G (p.Val762=)
NM_000448.3(RAG1):c.228A>G (p.Pro76=)
NM_000448.3(RAG1):c.2307T>C (p.His769=)
NM_000448.3(RAG1):c.2313T>C (p.Ser771=)
NM_000448.3(RAG1):c.2326C>A (p.Arg776=)
NM_000448.3(RAG1):c.2332C>A (p.Arg778=)
NM_000448.3(RAG1):c.2343G>A (p.Gly781=)
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.2418G>A (p.Glu806=)
NM_000448.3(RAG1):c.2439A>G (p.Leu813=)
NM_000448.3(RAG1):c.243A>G (p.Leu81=)
NM_000448.3(RAG1):c.2448G>A (p.Gly816=) rs1850836600
NM_000448.3(RAG1):c.2463T>C (p.Asn821=)
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.252C>T (p.His84=)
NM_000448.3(RAG1):c.2551A>C (p.Arg851=)
NM_000448.3(RAG1):c.2580C>T (p.Leu860=)
NM_000448.3(RAG1):c.2598G>A (p.Val866=)
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.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.2668C>T (p.Leu890=)
NM_000448.3(RAG1):c.2685A>G (p.Val895=)
NM_000448.3(RAG1):c.2700C>T (p.Cys900=)
NM_000448.3(RAG1):c.2730C>T (p.Cys910=)
NM_000448.3(RAG1):c.2736C>T (p.Tyr912=)
NM_000448.3(RAG1):c.2742C>T (p.Phe914=)
NM_000448.3(RAG1):c.2745T>C (p.Asn915=)
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.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.2832C>A (p.Ala944=)
NM_000448.3(RAG1):c.2832C>G (p.Ala944=) rs756495943
NM_000448.3(RAG1):c.2835T>C (p.His945=)
NM_000448.3(RAG1):c.2889A>G (p.Gly963=)
NM_000448.3(RAG1):c.2904C>T (p.Asn968=)
NM_000448.3(RAG1):c.2910G>A (p.Leu970=)
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.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.3012G>A (p.Lys1004=) rs1850850830
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.3054C>T (p.Thr1018=)
NM_000448.3(RAG1):c.3060C>T (p.Asn1020=)
NM_000448.3(RAG1):c.3069A>G (p.Ala1023=)
NM_000448.3(RAG1):c.3078G>T (p.Gly1026=)
NM_000448.3(RAG1):c.3081C>T (p.Asp1027=)
NM_000448.3(RAG1):c.3084A>T (p.Pro1028=)
NM_000448.3(RAG1):c.3096G>A (p.Glu1032=)
NM_000448.3(RAG1):c.3103C>T (p.Leu1035=)
NM_000448.3(RAG1):c.3120A>G (p.Ser1040=)
NM_000448.3(RAG1):c.3126A>G (p.Glu1042=)
NM_000448.3(RAG1):c.375G>A (p.Arg125=)
NM_000448.3(RAG1):c.399G>A (p.Val133=) rs1850785748
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.456G>A (p.Pro152=) rs368797111
NM_000448.3(RAG1):c.456G>T (p.Pro152=) rs368797111
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.489G>A (p.Val163=)
NM_000448.3(RAG1):c.495A>C (p.Ala165=) rs1288754505
NM_000448.3(RAG1):c.498T>C (p.Asp166=)
NM_000448.3(RAG1):c.506C>T (p.Ser169Leu) rs4151027
NM_000448.3(RAG1):c.519T>A (p.Thr173=)
NM_000448.3(RAG1):c.522G>A (p.Glu174=)
NM_000448.3(RAG1):c.546C>T (p.Ile182=)
NM_000448.3(RAG1):c.558G>A (p.Lys186=)
NM_000448.3(RAG1):c.561T>C (p.Phe187=)
NM_000448.3(RAG1):c.570C>T (p.Ala190=)
NM_000448.3(RAG1):c.579G>A (p.Glu193=)
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.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.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.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.777C>T (p.Ser259=)
NM_000448.3(RAG1):c.78A>G (p.Ser26=) rs1590701535
NM_000448.3(RAG1):c.798C>T (p.Ile266=)
NM_000448.3(RAG1):c.804C>T (p.Asn268=)
NM_000448.3(RAG1):c.825T>C (p.Ser275=)
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.870C>T (p.Ser290=)
NM_000448.3(RAG1):c.876C>A (p.Ser292=)
NM_000448.3(RAG1):c.888T>C (p.Cys296=)
NM_000448.3(RAG1):c.918C>G (p.Thr306=)
NM_000448.3(RAG1):c.924T>C (p.Cys308=)
NM_000448.3(RAG1):c.954C>T (p.Leu318=) rs752257404
NM_000448.3(RAG1):c.963C>G (p.Leu321=)
NM_000448.3(RAG1):c.974G>A (p.Gly325Asp)
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.1025G>A (p.Gly342Glu) rs367615315
NM_000536.4(RAG2):c.1038T>C (p.Tyr346=) rs1174918583
NM_000536.4(RAG2):c.1062T>C (p.Asp354=)
NM_000536.4(RAG2):c.1068T>C (p.Asn356=)
NM_000536.4(RAG2):c.111C>A (p.Pro37=) rs1851104820
NM_000536.4(RAG2):c.1140C>T (p.Asp380=) rs1851059503
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.1221A>G (p.Glu407=) rs2133311856
NM_000536.4(RAG2):c.1227T>C (p.Asp409=)
NM_000536.4(RAG2):c.1230G>A (p.Glu410=)
NM_000536.4(RAG2):c.1236G>A (p.Glu412=)
NM_000536.4(RAG2):c.123C>T (p.Cys41=)
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.1251T>A (p.Ile417=) rs748248673
NM_000536.4(RAG2):c.1269T>C (p.Cys423=)
NM_000536.4(RAG2):c.126C>T (p.Pro42=)
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.1326C>T (p.Ala442=) rs1323571407
NM_000536.4(RAG2):c.1332C>A (p.Ile444=)
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.1347G>A (p.Gly449=)
NM_000536.4(RAG2):c.1362C>T (p.Val454=) rs2133311306
NM_000536.4(RAG2):c.1368T>G (p.Ala456=)
NM_000536.4(RAG2):c.1381C>T (p.Leu461=) rs1342591484
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.1392C>T (p.Arg464=)
NM_000536.4(RAG2):c.1395A>C (p.Thr465=) rs2133311165
NM_000536.4(RAG2):c.1405C>T (p.Leu469=)
NM_000536.4(RAG2):c.1413A>C (p.Ala471=)
NM_000536.4(RAG2):c.1449G>A (p.Glu483=)
NM_000536.4(RAG2):c.1461T>G (p.Ala487=)
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.1488C>T (p.Pro496=) rs2133310869
NM_000536.4(RAG2):c.1491A>G (p.Leu497=) rs2133310853
NM_000536.4(RAG2):c.1497G>A (p.Lys499=) rs2133310820
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.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.1560C>T (p.Ser520=) rs1310165990
NM_000536.4(RAG2):c.1566T>G (p.Leu522=) rs2133310595
NM_000536.4(RAG2):c.1573T>C (p.Leu525=) rs1851039823
NM_000536.4(RAG2):c.1575G>A (p.Leu525=)
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.180A>C (p.Thr60=)
NM_000536.4(RAG2):c.180A>G (p.Thr60=) rs1345213365
NM_000536.4(RAG2):c.195T>C (p.Asp65=) rs2133315880
NM_000536.4(RAG2):c.207C>G (p.Leu69=) rs2133315845
NM_000536.4(RAG2):c.207C>T (p.Leu69=)
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.243A>G (p.Lys81=)
NM_000536.4(RAG2):c.24C>G (p.Val8=)
NM_000536.4(RAG2):c.24C>T (p.Val8=) rs2133316604
NM_000536.4(RAG2):c.258T>C (p.Ser86=) rs2133315667
NM_000536.4(RAG2):c.264G>A (p.Lys88=)
NM_000536.4(RAG2):c.270A>G (p.Gln90=)
NM_000536.4(RAG2):c.273C>T (p.Tyr91=)
NM_000536.4(RAG2):c.276C>A (p.Ile92=) rs2133315563
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.396T>C (p.Asp132=) rs2133315007
NM_000536.4(RAG2):c.39C>T (p.Ala13=) rs753764938
NM_000536.4(RAG2):c.409A>C (p.Arg137=)
NM_000536.4(RAG2):c.429T>C (p.Asn143=) rs2133314898
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.447G>A (p.Gly149=) rs2133314798
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.480A>G (p.Ser160=) rs1405801746
NM_000536.4(RAG2):c.483C>T (p.Tyr161=) rs2133314575
NM_000536.4(RAG2):c.489T>G (p.Pro163=) rs2133314533
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.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.543T>C (p.Cys181=) rs1851083875
NM_000536.4(RAG2):c.558T>C (p.Asp186=) rs2133314307
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.60A>G (p.Ser20=)
NM_000536.4(RAG2):c.624C>T (p.Val208=)
NM_000536.4(RAG2):c.642C>T (p.Asp214=)
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.666T>C (p.His222=)
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.696C>T (p.Asn232=) rs2133313876
NM_000536.4(RAG2):c.714T>C (p.Val238=)
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.726G>A (p.Leu242=)
NM_000536.4(RAG2):c.72T>C (p.Phe24=)
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.771T>C (p.Ser257=)
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.822T>C (p.Val274=)
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.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.909G>A (p.Glu303=) rs141025671
NM_000536.4(RAG2):c.915A>G (p.Pro305=) rs751463938
NM_000536.4(RAG2):c.924C>G (p.Thr308=)
NM_000536.4(RAG2):c.930C>T (p.Asp310=) rs2133312954
NM_000536.4(RAG2):c.936G>A (p.Lys312=)
NM_000536.4(RAG2):c.948A>C (p.Ile316=)
NM_000536.4(RAG2):c.987T>A (p.Leu329=)
NM_000536.4(RAG2):c.9G>C (p.Leu3=)

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