ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency due to JAK3 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1089
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.*123T>C rs3008 0.52650
NM_000215.4(JAK3):c.*1926A>G rs11888 0.38087
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_000215.4(JAK3):c.*654A>T rs71332114 0.28246
NM_000215.4(JAK3):c.*448C>A rs3212802 0.25138
NM_000215.4(JAK3):c.-36A>G rs7254346 0.22842
NM_000215.4(JAK3):c.*1293C>T rs73014967 0.17398
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000215.4(JAK3):c.297G>C (p.Leu99=) rs3212716 0.02446
NM_000215.4(JAK3):c.*36G>A rs3212799 0.01948
NM_000215.4(JAK3):c.1254+20G>A rs3212742 0.01436
NM_000215.4(JAK3):c.*1319G>A rs118101939 0.01432
NM_000215.4(JAK3):c.*1422G>A rs79972191 0.01316
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000215.4(JAK3):c.1786+14A>C rs756976635 0.00925
NM_000215.4(JAK3):c.1442-5C>T rs3212750 0.00758
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000215.4(JAK3):c.*1197G>A rs3213415 0.00736
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000215.4(JAK3):c.*73T>C rs149873298 0.00605
NM_000215.4(JAK3):c.2806-13C>T rs193156379 0.00498
NM_000215.4(JAK3):c.*252A>T rs79044512 0.00470
NM_000215.4(JAK3):c.-26C>T rs199713123 0.00411
NM_000215.4(JAK3):c.1548C>T (p.Ile516=) rs144203232 0.00372
NM_000215.4(JAK3):c.*937G>A rs3212803 0.00304
NM_000215.4(JAK3):c.*299C>T rs201718854 0.00246
NM_000215.4(JAK3):c.631A>C (p.Arg211=) rs56269787 0.00207
NM_000215.4(JAK3):c.108G>C (p.Gly36=) rs149701114 0.00201
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr) rs144968714 0.00150
NM_000215.4(JAK3):c.*653T>A rs886054274 0.00143
NM_000215.4(JAK3):c.1581G>A (p.Leu527=) rs3213408 0.00121
NM_000215.4(JAK3):c.1929G>A (p.Leu643=) rs138645044 0.00119
NM_000215.4(JAK3):c.*404G>A rs200207634 0.00117
NM_000215.4(JAK3):c.*1833G>A rs546293977 0.00113
NM_000215.4(JAK3):c.1995C>T (p.Pro665=) rs3212768 0.00108
NM_000215.4(JAK3):c.*1038A>G rs373917722 0.00104
NM_000215.4(JAK3):c.252G>A (p.Pro84=) rs139738701 0.00102
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_000215.4(JAK3):c.1710G>A (p.Leu570=) rs3212755 0.00098
NM_000215.4(JAK3):c.2079C>T (p.Pro693=) rs145377049 0.00096
NM_000215.4(JAK3):c.2636A>G (p.His879Arg) rs3179893 0.00086
NM_000215.4(JAK3):c.1551T>A (p.Pro517=) rs143936463 0.00075
NM_000215.4(JAK3):c.1786+6A>T rs372156975 0.00074
NM_000215.4(JAK3):c.2806-20C>G rs199653549 0.00069
NM_000215.4(JAK3):c.2862C>T (p.Asn954=) rs199553891 0.00066
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu) rs146837396 0.00056
NM_000215.4(JAK3):c.23C>T (p.Thr8Met) rs145500023 0.00056
NM_000215.4(JAK3):c.*1523C>T rs145985086 0.00046
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=) rs201073968 0.00041
NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe) rs200580168 0.00036
NM_000215.4(JAK3):c.1453C>T (p.Leu485=) rs55883965 0.00035
NM_000215.4(JAK3):c.184+17T>C rs200903837 0.00031
NM_000215.4(JAK3):c.696C>T (p.His232=) rs199902822 0.00029
NM_000215.4(JAK3):c.*507A>T rs572139474 0.00027
NM_000215.4(JAK3):c.2316C>A (p.Ala772=) rs139268535 0.00027
NM_000215.4(JAK3):c.187A>G (p.Ile63Val) rs144405201 0.00026
NM_000215.4(JAK3):c.2235G>A (p.Pro745=) rs149207170 0.00026
NM_000215.4(JAK3):c.2372C>A (p.Pro791His) rs1413703588 0.00026
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys) rs200077579 0.00024
NM_000215.4(JAK3):c.1254+4G>A rs200084748 0.00022
NM_000215.4(JAK3):c.*371C>T rs185462850 0.00021
NM_000215.4(JAK3):c.*1548C>T rs191522931 0.00020
NM_000215.4(JAK3):c.*503G>A rs201036874 0.00019
NM_000215.4(JAK3):c.1471G>C (p.Gly491Arg) rs200112185 0.00019
NM_000215.4(JAK3):c.2680+15G>A rs201288968 0.00019
NM_000215.4(JAK3):c.648G>C (p.Thr216=) rs200376035 0.00019
NM_000215.4(JAK3):c.1020G>A (p.Ser340=) rs201997916 0.00018
NM_000215.4(JAK3):c.1632G>T (p.Val544=) rs779887883 0.00018
NM_000215.4(JAK3):c.1569+14G>A rs200624424 0.00016
NM_000215.4(JAK3):c.2412T>C (p.Asn804=) rs368403369 0.00015
NM_000215.4(JAK3):c.35C>T (p.Pro12Leu) rs56061056 0.00015
NM_000215.4(JAK3):c.*501C>T rs192417008 0.00014
NM_000215.4(JAK3):c.183C>T (p.Ser61=) rs200269517 0.00014
NM_000215.4(JAK3):c.*403C>T rs1011458072 0.00013
NM_000215.4(JAK3):c.1142C>A (p.Thr381Asn) rs373046546 0.00013
NM_000215.4(JAK3):c.*943G>C rs370189146 0.00012
NM_000215.4(JAK3):c.896T>C (p.Val299Ala) rs571404212 0.00012
NM_000215.4(JAK3):c.*1761T>A rs188773566 0.00011
NM_000215.4(JAK3):c.*974G>A rs543679158 0.00011
NM_000215.4(JAK3):c.119G>A (p.Arg40His) rs56384680 0.00011
NM_000215.4(JAK3):c.1752C>T (p.Leu584=) rs200582253 0.00011
NM_000215.4(JAK3):c.2291C>T (p.Pro764Leu) rs149982493 0.00011
NM_000215.4(JAK3):c.3067T>C (p.Tyr1023His) rs145260622 0.00011
NM_000215.4(JAK3):c.478G>T (p.Gly160Cys) rs149579831 0.00011
NM_000215.4(JAK3):c.649G>A (p.Val217Met) rs202167678 0.00011
NM_000215.4(JAK3):c.*1287A>T rs771793558 0.00010
NM_000215.4(JAK3):c.2199+10C>G rs185973755 0.00010
NM_000215.4(JAK3):c.2505C>T (p.Ser835=) rs201199096 0.00010
NM_000215.4(JAK3):c.2660G>A (p.Arg887His) rs148688786 0.00010
NM_000215.4(JAK3):c.3007A>G (p.Ile1003Val) rs137901277 0.00010
NM_000215.4(JAK3):c.*985C>T rs886054272 0.00009
NM_000215.4(JAK3):c.2097G>A (p.Ala699=) rs571402316 0.00009
NM_000215.4(JAK3):c.2391A>G (p.Ala797=) rs199910484 0.00009
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=) rs369402343 0.00009
NM_000215.3(JAK3):c.-54C>T rs201353678 0.00008
NM_000215.4(JAK3):c.1254+9A>G rs1000957625 0.00008
NM_000215.4(JAK3):c.1971G>A (p.Arg657=) rs753209740 0.00008
NM_000215.4(JAK3):c.2673T>C (p.Tyr891=) rs201537885 0.00008
NM_000215.4(JAK3):c.362G>A (p.Arg121His) rs143586866 0.00008
NM_000215.4(JAK3):c.570C>T (p.Tyr190=) rs759887019 0.00008
NM_000215.4(JAK3):c.2681-11G>T rs201970522 0.00007
NM_000215.4(JAK3):c.*298C>A rs190366074 0.00006
NM_000215.4(JAK3):c.1184G>A (p.Arg395His) rs143038064 0.00006
NM_000215.4(JAK3):c.1673T>C (p.Met558Thr) rs777252992 0.00006
NM_000215.4(JAK3):c.1794G>C (p.Met598Ile) rs138143146 0.00006
NM_000215.4(JAK3):c.1914+10C>T rs200964315 0.00006
NM_000215.4(JAK3):c.2089C>T (p.Arg697Trp) rs201838318 0.00006
NM_000215.4(JAK3):c.2350+6C>T rs200193137 0.00006
NM_000215.4(JAK3):c.2593C>G (p.Gln865Glu) rs749480147 0.00006
NM_000215.4(JAK3):c.2756C>T (p.Ala919Val) rs767424476 0.00006
NM_000215.4(JAK3):c.3366C>T (p.Ser1122=) rs141069196 0.00006
NM_000215.4(JAK3):c.1005G>A (p.Leu335=) rs202231447 0.00005
NM_000215.4(JAK3):c.1140C>T (p.Ile380=) rs910451747 0.00005
NM_000215.4(JAK3):c.1352G>A (p.Arg451Gln) rs145751599 0.00005
NM_000215.4(JAK3):c.1992G>A (p.Pro664=) rs200499852 0.00005
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe) rs35785705 0.00005
NM_000215.4(JAK3):c.2292G>A (p.Pro764=) rs200685231 0.00005
NM_000215.4(JAK3):c.567-8C>A rs753082440 0.00005
NM_000215.4(JAK3):c.630G>A (p.Arg210=) rs201101011 0.00005
NM_000215.4(JAK3):c.*1014C>T rs560529368 0.00004
NM_000215.4(JAK3):c.*847C>T rs886054273 0.00004
NM_000215.4(JAK3):c.1073T>G (p.Phe358Cys) rs200863318 0.00004
NM_000215.4(JAK3):c.1561C>G (p.Leu521Val) rs55666418 0.00004
NM_000215.4(JAK3):c.1899C>T (p.Tyr633=) rs538081227 0.00004
NM_000215.4(JAK3):c.192G>A (p.Leu64=) rs771814824 0.00004
NM_000215.4(JAK3):c.1933C>T (p.His645Tyr) rs201479407 0.00004
NM_000215.4(JAK3):c.2028C>T (p.Pro676=) rs137936180 0.00004
NM_000215.4(JAK3):c.2047+15G>A rs200237945 0.00004
NM_000215.4(JAK3):c.2133C>T (p.Phe711=) rs200726812 0.00004
NM_000215.4(JAK3):c.2254C>T (p.Leu752=) rs200123352 0.00004
NM_000215.4(JAK3):c.2333A>G (p.Asn778Ser) rs199861157 0.00004
NM_000215.4(JAK3):c.2350+7G>A rs200658439 0.00004
NM_000215.4(JAK3):c.2390C>T (p.Ala797Val) rs765366102 0.00004
NM_000215.4(JAK3):c.2395C>T (p.Arg799Cys) rs201241352 0.00004
NM_000215.4(JAK3):c.2479C>G (p.Gln827Glu) rs144683649 0.00004
NM_000215.4(JAK3):c.2503A>T (p.Ser835Cys) rs201966394 0.00004
NM_000215.4(JAK3):c.2535C>T (p.Gly845=) rs200746503 0.00004
NM_000215.4(JAK3):c.2619G>T (p.Gln873His) rs200645418 0.00004
NM_000215.4(JAK3):c.2630C>T (p.Ala877Val) rs201869359 0.00004
NM_000215.4(JAK3):c.2772C>T (p.Ser924=) rs199939250 0.00004
NM_000215.4(JAK3):c.2805+5G>A rs200731018 0.00004
NM_000215.4(JAK3):c.2806-14C>G rs976222264 0.00004
NM_000215.4(JAK3):c.309-15C>T rs755593886 0.00004
NM_000215.4(JAK3):c.3204T>A (p.Ala1068=) rs778126810 0.00004
NM_000215.4(JAK3):c.3208-10C>T rs200159093 0.00004
NM_000215.4(JAK3):c.524G>A (p.Arg175Gln) rs776089693 0.00004
NM_000215.4(JAK3):c.665G>A (p.Arg222His) rs199868795 0.00004
NM_000215.4(JAK3):c.-19C>T rs181416110 0.00003
NM_000215.4(JAK3):c.1441+19T>C rs1204641842 0.00003
NM_000215.4(JAK3):c.1567T>G (p.Trp523Gly) rs199635089 0.00003
NM_000215.4(JAK3):c.1786+7G>A rs1011716310 0.00003
NM_000215.4(JAK3):c.2105T>C (p.Leu702Pro) rs772117537 0.00003
NM_000215.4(JAK3):c.2142G>A (p.Thr714=) rs1473714442 0.00003
NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys) rs374191135 0.00003
NM_000215.4(JAK3):c.2678C>T (p.Pro893Leu) rs772027199 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000215.4(JAK3):c.2919G>A (p.Leu973=) rs769510241 0.00003
NM_000215.4(JAK3):c.3213C>T (p.His1071=) rs757910571 0.00003
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=) rs138593705 0.00003
NM_000215.4(JAK3):c.*1522C>T rs1449106505 0.00002
NM_000215.4(JAK3):c.*1778A>G rs886054266 0.00002
NM_000215.4(JAK3):c.1030C>A (p.Leu344Ile) rs1309733826 0.00002
NM_000215.4(JAK3):c.114C>A (p.Pro38=) rs1448668382 0.00002
NM_000215.4(JAK3):c.1187C>T (p.Pro396Leu) rs149047410 0.00002
NM_000215.4(JAK3):c.1196A>G (p.Tyr399Cys) rs201199447 0.00002
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000215.4(JAK3):c.1618C>T (p.Arg540Cys) rs747854515 0.00002
NM_000215.4(JAK3):c.1653A>G (p.Thr551=) rs201698409 0.00002
NM_000215.4(JAK3):c.1678G>A (p.Ala560Thr) rs771634723 0.00002
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys) rs200075643 0.00002
NM_000215.4(JAK3):c.2055C>T (p.Thr685=) rs745486642 0.00002
NM_000215.4(JAK3):c.2136C>T (p.Gly712=) rs769105045 0.00002
NM_000215.4(JAK3):c.2317G>A (p.Val773Ile) rs201531563 0.00002
NM_000215.4(JAK3):c.2351-11C>T rs200386518 0.00002
NM_000215.4(JAK3):c.2490+4A>C rs745806475 0.00002
NM_000215.4(JAK3):c.2529G>A (p.Pro843=) rs775003661 0.00002
NM_000215.4(JAK3):c.268G>A (p.Val90Met) rs1016346013 0.00002
NM_000215.4(JAK3):c.2692C>T (p.Leu898=) rs202043320 0.00002
NM_000215.4(JAK3):c.2761C>T (p.Leu921Phe) rs886054278 0.00002
NM_000215.4(JAK3):c.3345G>A (p.Glu1115=) rs536693961 0.00002
NM_000215.4(JAK3):c.489C>T (p.Leu163=) rs138218812 0.00002
NM_000215.4(JAK3):c.512C>T (p.Ala171Val) rs764890523 0.00002
NM_000215.4(JAK3):c.564C>G (p.Val188=) rs199853515 0.00002
NM_000215.4(JAK3):c.63G>A (p.Thr21=) rs754954318 0.00002
NM_000215.4(JAK3):c.909C>T (p.Ile303=) rs768850889 0.00002
NM_000215.4(JAK3):c.984+11G>T rs756102540 0.00002
NM_000215.3(JAK3):c.-105G>A rs950208815 0.00001
NM_000215.4(JAK3):c.*1264G>C rs552602675 0.00001
NM_000215.4(JAK3):c.*1531T>C rs886054268 0.00001
NM_000215.4(JAK3):c.-3C>T rs754275786 0.00001
NM_000215.4(JAK3):c.1023C>T (p.Phe341=) rs140073972 0.00001
NM_000215.4(JAK3):c.1047C>T (p.Phe349=) rs748541941 0.00001
NM_000215.4(JAK3):c.105C>T (p.Pro35=) rs199988158 0.00001
NM_000215.4(JAK3):c.1079G>T (p.Cys360Phe) rs945125325 0.00001
NM_000215.4(JAK3):c.1080C>T (p.Cys360=) rs564076549 0.00001
NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys) rs200631515 0.00001
NM_000215.4(JAK3):c.110C>G (p.Pro37Arg) rs200960683 0.00001
NM_000215.4(JAK3):c.1120G>C (p.Glu374Gln) rs769243134 0.00001
NM_000215.4(JAK3):c.1153G>T (p.Ala385Ser) rs968177323 0.00001
NM_000215.4(JAK3):c.1208G>A (p.Arg403His) rs1599876167 0.00001
NM_000215.4(JAK3):c.1262T>G (p.Leu421Arg) rs535740127 0.00001
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.136G>A (p.Gly46Arg) rs778988303 0.00001
NM_000215.4(JAK3):c.1371C>T (p.Cys457=) rs200197702 0.00001
NM_000215.4(JAK3):c.1379G>A (p.Gly460Glu) rs199659728 0.00001
NM_000215.4(JAK3):c.1458C>T (p.Ile486=) rs1297346398 0.00001
NM_000215.4(JAK3):c.14G>A (p.Ser5Asn) rs566269022 0.00001
NM_000215.4(JAK3):c.150T>C (p.Ala50=) rs2094246845 0.00001
NM_000215.4(JAK3):c.1514A>G (p.Gln505Arg) rs2094229344 0.00001
NM_000215.4(JAK3):c.1529A>G (p.Gln510Arg) rs762398167 0.00001
NM_000215.4(JAK3):c.1550C>T (p.Pro517Leu) rs759375144 0.00001
NM_000215.4(JAK3):c.1586A>G (p.His529Arg) rs142805245 0.00001
NM_000215.4(JAK3):c.1609C>T (p.Arg537Trp) rs746305522 0.00001
NM_000215.4(JAK3):c.1631T>C (p.Val544Ala) rs1367182709 0.00001
NM_000215.4(JAK3):c.1644C>T (p.Ala548=) rs764363104 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000215.4(JAK3):c.1646G>A (p.Arg549Gln) rs201972084 0.00001
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter) rs137852625 0.00001
NM_000215.4(JAK3):c.1740G>A (p.Ser580=) rs143605793 0.00001
NM_000215.4(JAK3):c.1764C>T (p.His588=) rs201482851 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.1768G>A (p.Val590Met) rs1040476469 0.00001
NM_000215.4(JAK3):c.1805T>C (p.Phe602Ser) rs147408277 0.00001
NM_000215.4(JAK3):c.184G>A (p.Gly62Ser) rs199602590 0.00001
NM_000215.4(JAK3):c.1915-20C>T rs564212195 0.00001
NM_000215.4(JAK3):c.1924G>C (p.Gly642Arg) rs1435749725 0.00001
NM_000215.4(JAK3):c.1965G>A (p.Leu655=) rs199607834 0.00001
NM_000215.4(JAK3):c.1991C>T (p.Pro664Leu) rs373027121 0.00001
NM_000215.4(JAK3):c.2090G>A (p.Arg697Gln) rs200849846 0.00001
NM_000215.4(JAK3):c.2095G>T (p.Ala699Ser) rs199938989 0.00001
NM_000215.4(JAK3):c.2134G>A (p.Gly712Ser) rs1178958564 0.00001
NM_000215.4(JAK3):c.2163C>T (p.Gly721=) rs200715301 0.00001
NM_000215.4(JAK3):c.217C>G (p.Leu73Val) rs2094245829 0.00001
NM_000215.4(JAK3):c.2199+11C>T rs1380361871 0.00001
NM_000215.4(JAK3):c.2237C>T (p.Ala746Val) rs2094220656 0.00001
NM_000215.4(JAK3):c.2262G>A (p.Leu754=) rs375857709 0.00001
NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter) rs1198251679 0.00001
NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys) rs200624610 0.00001
NM_000215.4(JAK3):c.2451C>T (p.Phe817=) rs201576913 0.00001
NM_000215.4(JAK3):c.2463C>T (p.His821=) rs200691724 0.00001
NM_000215.4(JAK3):c.2475C>G (p.Ile825Met) rs1459489474 0.00001
NM_000215.4(JAK3):c.2491-14C>T rs202094680 0.00001
NM_000215.4(JAK3):c.2491-3C>G rs1568401934 0.00001
NM_000215.4(JAK3):c.2519G>A (p.Arg840His) rs140837014 0.00001
NM_000215.4(JAK3):c.2571G>T (p.Leu857=) rs2050410603 0.00001
NM_000215.4(JAK3):c.2609G>A (p.Arg870Gln) rs376945173 0.00001
NM_000215.4(JAK3):c.2655G>A (p.Lys885=) rs1479562469 0.00001
NM_000215.4(JAK3):c.2679G>A (p.Pro893=) rs200480252 0.00001
NM_000215.4(JAK3):c.267C>A (p.Ser89=) rs754716735 0.00001
NM_000215.4(JAK3):c.2718C>A (p.Pro906=) rs370066330 0.00001
NM_000215.4(JAK3):c.2740C>T (p.Leu914=) rs747463452 0.00001
NM_000215.4(JAK3):c.2764G>A (p.Asp922Asn) rs763951351 0.00001
NM_000215.4(JAK3):c.2825C>T (p.Ser942Phe) rs372733285 0.00001
NM_000215.4(JAK3):c.28C>G (p.Leu10Val) rs1052019264 0.00001
NM_000215.4(JAK3):c.2978+15C>T rs587780955 0.00001
NM_000215.4(JAK3):c.2978+9C>A rs750682558 0.00001
NM_000215.4(JAK3):c.2985C>G (p.Ala995=) rs1382312413 0.00001
NM_000215.4(JAK3):c.3021G>A (p.Gln1007=) rs553571090 0.00001
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys) rs761583890 0.00001
NM_000215.4(JAK3):c.308G>A (p.Arg103His) rs774202259 0.00001
NM_000215.4(JAK3):c.309-20G>A rs753489606 0.00001
NM_000215.4(JAK3):c.3096+8G>A rs374300158 0.00001
NM_000215.4(JAK3):c.3104T>A (p.Leu1035Gln) rs2094211254 0.00001
NM_000215.4(JAK3):c.3144C>T (p.Cys1048=) rs201735857 0.00001
NM_000215.4(JAK3):c.3189T>A (p.Pro1063=) rs1007591322 0.00001
NM_000215.4(JAK3):c.3200C>T (p.Pro1067Leu) rs1223885282 0.00001
NM_000215.4(JAK3):c.3208-1G>A rs1160856608 0.00001
NM_000215.4(JAK3):c.3208-9G>A rs201379612 0.00001
NM_000215.4(JAK3):c.3214G>A (p.Glu1072Lys) rs752088869 0.00001
NM_000215.4(JAK3):c.323A>G (p.Asn108Ser) rs199790370 0.00001
NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln) rs2094204878 0.00001
NM_000215.4(JAK3):c.3276C>T (p.Gly1092=) rs199611932 0.00001
NM_000215.4(JAK3):c.3308G>A (p.Arg1103Gln) rs757920411 0.00001
NM_000215.4(JAK3):c.3337C>T (p.His1113Tyr) rs1269489339 0.00001
NM_000215.4(JAK3):c.349C>T (p.Arg117Cys) rs201233697 0.00001
NM_000215.4(JAK3):c.354C>T (p.Phe118=) rs751336782 0.00001
NM_000215.4(JAK3):c.358C>T (p.Leu120=) rs762655525 0.00001
NM_000215.4(JAK3):c.361C>T (p.Arg121Cys) rs776850935 0.00001
NM_000215.4(JAK3):c.420+3G>A rs748616863 0.00001
NM_000215.4(JAK3):c.42T>A (p.Arg14=) rs769914477 0.00001
NM_000215.4(JAK3):c.482A>C (p.Glu161Ala) rs756695301 0.00001
NM_000215.4(JAK3):c.499G>A (p.Val167Met) rs973863737 0.00001
NM_000215.4(JAK3):c.521C>T (p.Ala174Val) rs767865565 0.00001
NM_000215.4(JAK3):c.532G>A (p.Ala178Thr) rs759903379 0.00001
NM_000215.4(JAK3):c.624G>T (p.Val208=) rs868243883 0.00001
NM_000215.4(JAK3):c.657A>G (p.Arg219=) rs1236808333 0.00001
NM_000215.4(JAK3):c.740C>T (p.Pro247Leu) rs761196525 0.00001
NM_000215.4(JAK3):c.81T>G (p.His27Gln) rs1039181282 0.00001
NM_000215.4(JAK3):c.862-17C>T rs966548994 0.00001
NM_000215.4(JAK3):c.905G>A (p.Ser302Asn) rs751055857 0.00001
NM_000215.4(JAK3):c.932C>T (p.Pro311Leu) rs781705937 0.00001
NM_000215.4(JAK3):c.93C>T (p.Pro31=) rs201917022 0.00001
JAK3, 151-BP DEL
NC_000019.9:g.(?_17927663)_(17983505_?)dup
NC_000019.9:g.(?_17937552)_(17937739_?)dup
NC_000019.9:g.(?_17940897)_(17943758_?)del
NC_000019.9:g.(?_17944409)_(17945894_?)del
NC_000019.9:g.(?_17952178)_(17955226_?)dup
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) rs1568404443
NM_000215.3(JAK3):c.[1796T>G;2125T>A]
NM_000215.4(JAK3):c.*1094G>C rs886054271
NM_000215.4(JAK3):c.*1218C>A rs886054270
NM_000215.4(JAK3):c.*137G>T rs199679264
NM_000215.4(JAK3):c.*138G>C rs3212800
NM_000215.4(JAK3):c.*1398G>C rs2094202113
NM_000215.4(JAK3):c.*1509G>T rs750558618
NM_000215.4(JAK3):c.*1661T>G rs1406329008
NM_000215.4(JAK3):c.*1752A>G rs886054267
NM_000215.4(JAK3):c.*1787C>A rs569854764
NM_000215.4(JAK3):c.*1835G>A rs990232897
NM_000215.4(JAK3):c.*204G>A rs2094204211
NM_000215.4(JAK3):c.*271G>T rs886054277
NM_000215.4(JAK3):c.*306G>A rs200658727
NM_000215.4(JAK3):c.*422C>T rs902489404
NM_000215.4(JAK3):c.*593C>T rs886054275
NM_000215.4(JAK3):c.*607G>A rs1364267735
NM_000215.4(JAK3):c.*771C>T rs923086181
NM_000215.4(JAK3):c.*899A>G rs2094202959
NM_000215.4(JAK3):c.1005G>T (p.Leu335=)
NM_000215.4(JAK3):c.1008C>T (p.Pro336=)
NM_000215.4(JAK3):c.1011G>A (p.Glu337=)
NM_000215.4(JAK3):c.1014T>G (p.Ala338=)
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter) rs2094238720
NM_000215.4(JAK3):c.101del (p.Gly34fs)
NM_000215.4(JAK3):c.1053G>A (p.Leu351=)
NM_000215.4(JAK3):c.1056C>A (p.Thr352=)
NM_000215.4(JAK3):c.1059G>T (p.Thr353=)
NM_000215.4(JAK3):c.105C>A (p.Pro35=)
NM_000215.4(JAK3):c.1068G>A (p.Gln356=)
NM_000215.4(JAK3):c.106G>A (p.Gly36Arg)
NM_000215.4(JAK3):c.1073T>A (p.Phe358Tyr)
NM_000215.4(JAK3):c.1083G>C (p.Lys361Asn) rs2094238493
NM_000215.4(JAK3):c.1086G>A (p.Glu362=)
NM_000215.4(JAK3):c.1098G>T (p.Pro366=)
NM_000215.4(JAK3):c.109C>A (p.Pro37Thr)
NM_000215.4(JAK3):c.1106T>C (p.Leu369Pro)
NM_000215.4(JAK3):c.1114G>A (p.Val372Met) rs1360733708
NM_000215.4(JAK3):c.1120G>A (p.Glu374Lys)
NM_000215.4(JAK3):c.1134C>T (p.Gly378=)
NM_000215.4(JAK3):c.1142+10T>C
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1142+13C>T
NM_000215.4(JAK3):c.1142+14C>T
NM_000215.4(JAK3):c.1142+16C>T
NM_000215.4(JAK3):c.1142+1G>C rs1232129873
NM_000215.4(JAK3):c.1142+1G>T
NM_000215.4(JAK3):c.1143-10T>C
NM_000215.4(JAK3):c.1143-13C>T
NM_000215.4(JAK3):c.1143-14A>G
NM_000215.4(JAK3):c.1143-19C>T
NM_000215.4(JAK3):c.1143-5C>T
NM_000215.4(JAK3):c.1143-6C>T
NM_000215.4(JAK3):c.1158C>T (p.Ile386=)
NM_000215.4(JAK3):c.115C>G (p.Gln39Glu)
NM_000215.4(JAK3):c.115del (p.Gln39fs) rs755706305
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
NM_000215.4(JAK3):c.1165del (p.Leu389fs)
NM_000215.4(JAK3):c.1176G>T (p.Gly392=)
NM_000215.4(JAK3):c.1178dup (p.Ser394fs) rs2094235007
NM_000215.4(JAK3):c.1185T>C (p.Arg395=)
NM_000215.4(JAK3):c.1191C>G (p.Gly397=)
NM_000215.4(JAK3):c.1205G>A (p.Arg402His)
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000215.4(JAK3):c.1214C>T (p.Pro405Leu) rs1267642970
NM_000215.4(JAK3):c.1236C>T (p.Leu412=)
NM_000215.4(JAK3):c.1239C>T (p.Leu413=)
NM_000215.4(JAK3):c.123A>G (p.Leu41=)
NM_000215.4(JAK3):c.123_126del (p.Phe43fs)
NM_000215.4(JAK3):c.1252C>G (p.Gln418Glu) rs2147692670
NM_000215.4(JAK3):c.1254+12G>A
NM_000215.4(JAK3):c.1254+18G>T
NM_000215.4(JAK3):c.1254+2T>A rs2147692665
NM_000215.4(JAK3):c.1254+5G>C rs2147692649
NM_000215.4(JAK3):c.1255-12T>C
NM_000215.4(JAK3):c.1255-15C>T
NM_000215.4(JAK3):c.1255-17del
NM_000215.4(JAK3):c.1255-19G>C
NM_000215.4(JAK3):c.1255-19_1255-17dup rs749079957
NM_000215.4(JAK3):c.1255-1G>A
NM_000215.4(JAK3):c.125C>A (p.Ser42Tyr) rs2094246939
NM_000215.4(JAK3):c.1266T>A (p.Gly422=) rs754562580
NM_000215.4(JAK3):c.1275T>C (p.Tyr425=)
NM_000215.4(JAK3):c.1280del (p.Gly427fs)
NM_000215.4(JAK3):c.1284C>A (p.Cys428Ter)
NM_000215.4(JAK3):c.1287C>T (p.Leu429=)
NM_000215.4(JAK3):c.1289T>C (p.Ile430Thr)
NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp) rs1274345651
NM_000215.4(JAK3):c.1292G>C (p.Arg431Pro)
NM_000215.4(JAK3):c.1295G>A (p.Arg432His)
NM_000215.4(JAK3):c.1299C>T (p.Ser433=)
NM_000215.4(JAK3):c.129C>T (p.Phe43=)
NM_000215.4(JAK3):c.1304C>T (p.Thr435Ile)
NM_000215.4(JAK3):c.1305A>G (p.Thr435=)
NM_000215.4(JAK3):c.1311C>A (p.Thr437=)
NM_000215.4(JAK3):c.1315C>T (p.Leu439Phe)
NM_000215.4(JAK3):c.1320G>A (p.Leu440=)
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000215.4(JAK3):c.1334G>A (p.Arg445Gln)
NM_000215.4(JAK3):c.1340A>G (p.His447Arg)
NM_000215.4(JAK3):c.1341C>T (p.His447=) rs2147691249
NM_000215.4(JAK3):c.1356G>A (p.Glu452=)
NM_000215.4(JAK3):c.1361T>C (p.Leu454Pro)
NM_000215.4(JAK3):c.1383G>T (p.Gly461=)
NM_000215.4(JAK3):c.1383dup (p.Leu462fs) rs2147691124
NM_000215.4(JAK3):c.1389C>A (p.His463Gln) rs201132330
NM_000215.4(JAK3):c.1389C>G (p.His463Gln)
NM_000215.4(JAK3):c.1389C>T (p.His463=) rs201132330
NM_000215.4(JAK3):c.1401G>A (p.Val467=)
NM_000215.4(JAK3):c.1403C>T (p.Ala468Val) rs2147691045
NM_000215.4(JAK3):c.1407G>A (p.Val469=)
NM_000215.4(JAK3):c.1413C>T (p.Leu471=)
NM_000215.4(JAK3):c.141C>G (p.Asp47Glu) rs1599881400
NM_000215.4(JAK3):c.1425T>C (p.Cys475=)
NM_000215.4(JAK3):c.1426A>G (p.Ile476Val)
NM_000215.4(JAK3):c.1428C>T (p.Ile476=)
NM_000215.4(JAK3):c.1432dup (p.Arg478fs) rs769633203
NM_000215.4(JAK3):c.1441+15C>T
NM_000215.4(JAK3):c.1441+16C>T
NM_000215.4(JAK3):c.1441+1G>T
NM_000215.4(JAK3):c.1441+9del
NM_000215.4(JAK3):c.1442-10C>G
NM_000215.4(JAK3):c.1442-14T>A
NM_000215.4(JAK3):c.1442-16C>G
NM_000215.4(JAK3):c.1442-18C>G
NM_000215.4(JAK3):c.1442-6C>G
NM_000215.4(JAK3):c.1442-6C>T
NM_000215.4(JAK3):c.1442-7C>G
NM_000215.4(JAK3):c.1442-9T>C
NM_000215.4(JAK3):c.1459G>A (p.Val487Met) rs2147689016
NM_000215.4(JAK3):c.1463T>G (p.Val488Gly) rs2094229597
NM_000215.4(JAK3):c.1473T>C (p.Gly491=)
NM_000215.4(JAK3):c.1476del (p.His492fs)
NM_000215.4(JAK3):c.1483C>T (p.Pro495Ser) rs2094229513
NM_000215.4(JAK3):c.1485C>T (p.Pro495=)
NM_000215.4(JAK3):c.1495T>C (p.Leu499=)
NM_000215.4(JAK3):c.1498G>A (p.Val500Ile) rs2094229434
NM_000215.4(JAK3):c.1509A>G (p.Gln503=)
NM_000215.4(JAK3):c.1518C>T (p.Tyr506=)
NM_000215.4(JAK3):c.1528C>A (p.Gln510Lys)
NM_000215.4(JAK3):c.1533G>A (p.Met511Ile)
NM_000215.4(JAK3):c.1545G>A (p.Lys515=)
NM_000215.4(JAK3):c.1547T>A (p.Ile516Asn) rs2094229284
NM_000215.4(JAK3):c.154G>A (p.Asp52Asn) rs2147700846
NM_000215.4(JAK3):c.1569+15G>T
NM_000215.4(JAK3):c.1569+19T>C
NM_000215.4(JAK3):c.1569+8G>A
NM_000215.4(JAK3):c.1569G>A (p.Trp523Ter)
NM_000215.4(JAK3):c.156C>T (p.Asp52=)
NM_000215.4(JAK3):c.1570-10C>G
NM_000215.4(JAK3):c.1570-13C>G
NM_000215.4(JAK3):c.1570-15C>T
NM_000215.4(JAK3):c.1570-17del
NM_000215.4(JAK3):c.1570-20G>A
NM_000215.4(JAK3):c.1570-5T>C
NM_000215.4(JAK3):c.1572T>C (p.His524=)
NM_000215.4(JAK3):c.1583G>A (p.Gly528Asp)
NM_000215.4(JAK3):c.1593C>T (p.Ser531=)
NM_000215.4(JAK3):c.1611G>A (p.Arg537=)
NM_000215.4(JAK3):c.1622A>T (p.His541Leu) rs148777897
NM_000215.4(JAK3):c.162C>T (p.Cys54=)
NM_000215.4(JAK3):c.1633G>C (p.Asp545His) rs2147687557
NM_000215.4(JAK3):c.1635T>C (p.Asp545=)
NM_000215.4(JAK3):c.1639G>A (p.Glu547Lys)
NM_000215.4(JAK3):c.163G>A (p.Val55Met)
NM_000215.4(JAK3):c.1641G>A (p.Glu547=)
NM_000215.4(JAK3):c.1659G>A (p.Val553=)
NM_000215.4(JAK3):c.1659G>C (p.Val553=)
NM_000215.4(JAK3):c.165G>A (p.Val55=)
NM_000215.4(JAK3):c.165G>C (p.Val55=)
NM_000215.4(JAK3):c.1662G>A (p.Leu554=)
NM_000215.4(JAK3):c.1672A>G (p.Met558Val) rs200993230
NM_000215.4(JAK3):c.1677T>C (p.Asp559=)
NM_000215.4(JAK3):c.1678G>T (p.Ala560Ser) rs771634723
NM_000215.4(JAK3):c.1679C>G (p.Ala560Gly) rs886054279
NM_000215.4(JAK3):c.1683G>A (p.Lys561=) rs2094228255
NM_000215.4(JAK3):c.1684C>T (p.His562Tyr)
NM_000215.4(JAK3):c.1686C>T (p.His562=)
NM_000215.4(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs) rs1599873591
NM_000215.4(JAK3):c.1701+11T>G
NM_000215.4(JAK3):c.1701+17C>T
NM_000215.4(JAK3):c.1701+19A>G
NM_000215.4(JAK3):c.1701+1G>A
NM_000215.4(JAK3):c.1701+2T>A rs2147687373
NM_000215.4(JAK3):c.1701+5G>A
NM_000215.4(JAK3):c.1701+6A>G
NM_000215.4(JAK3):c.1701+7G>A
NM_000215.4(JAK3):c.1702-15T>C
NM_000215.4(JAK3):c.1702-16T>C
NM_000215.4(JAK3):c.1702-3del
NM_000215.4(JAK3):c.1702-4C>A
NM_000215.4(JAK3):c.1702-6C>T
NM_000215.4(JAK3):c.1702-9C>T
NM_000215.4(JAK3):c.1704A>G (p.Ser568=)
NM_000215.4(JAK3):c.1710G>C (p.Leu570=)
NM_000215.4(JAK3):c.1719G>A (p.Ala573=)
NM_000215.4(JAK3):c.1719G>C (p.Ala573=)
NM_000215.4(JAK3):c.1719G>T (p.Ala573=) rs201371931
NM_000215.4(JAK3):c.172G>A (p.Ala58Thr) rs2046340891
NM_000215.4(JAK3):c.172_174del (p.Ala58del) rs137852627
NM_000215.4(JAK3):c.1739C>G (p.Ser580Trp) rs587778414
NM_000215.4(JAK3):c.1740G>T (p.Ser580=)
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.1745G>A (p.Arg582Gln)
NM_000215.4(JAK3):c.1746G>A (p.Arg582=)
NM_000215.4(JAK3):c.1753G>A (p.Val585Met) rs199600889
NM_000215.4(JAK3):c.1755G>T (p.Val585=)
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
NM_000215.4(JAK3):c.1763A>C (p.His588Pro) rs1207883288
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000215.4(JAK3):c.1786+13C>T rs781208496
NM_000215.4(JAK3):c.1786+13dup rs761961495
NM_000215.4(JAK3):c.1786+15C>T
NM_000215.4(JAK3):c.1786+1G>A
NM_000215.4(JAK3):c.1786+20C>T
NM_000215.4(JAK3):c.1786+2_1786+5del
NM_000215.4(JAK3):c.1786+3G>T
NM_000215.4(JAK3):c.1786+7G>C
NM_000215.4(JAK3):c.1786+7G>T
NM_000215.4(JAK3):c.1786+8C>G
NM_000215.4(JAK3):c.1786+8C>T
NM_000215.4(JAK3):c.1786+9C>A
NM_000215.4(JAK3):c.1786A>C (p.Ser596Arg)
NM_000215.4(JAK3):c.1787-11C>T
NM_000215.4(JAK3):c.1787-15C>A
NM_000215.4(JAK3):c.1787-16C>T
NM_000215.4(JAK3):c.1787-18C>T
NM_000215.4(JAK3):c.1787-19T>C
NM_000215.4(JAK3):c.1787-20C>T
NM_000215.4(JAK3):c.1787-4C>T rs2147684406
NM_000215.4(JAK3):c.1791C>T (p.Thr597=)
NM_000215.4(JAK3):c.1796T>G (p.Val599Gly) rs1568403355
NM_000215.4(JAK3):c.1797G>C (p.Val599=)
NM_000215.4(JAK3):c.1815G>A (p.Leu605=)
NM_000215.4(JAK3):c.1818G>A (p.Gly606=)
NM_000215.4(JAK3):c.1822A>G (p.Ile608Val)
NM_000215.4(JAK3):c.1829T>C (p.Met610Thr) rs896905338
NM_000215.4(JAK3):c.1837C>A (p.Arg613=)
NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter) rs149316157
NM_000215.4(JAK3):c.184+11C>A rs1331165925
NM_000215.4(JAK3):c.184+11C>T
NM_000215.4(JAK3):c.184+19G>C
NM_000215.4(JAK3):c.184+5G>A
NM_000215.4(JAK3):c.184+9A>G
NM_000215.4(JAK3):c.185-15G>A
NM_000215.4(JAK3):c.185-15G>T
NM_000215.4(JAK3):c.1860A>C (p.Pro620=) rs2147684222
NM_000215.4(JAK3):c.1869G>A (p.Trp623Ter)
NM_000215.4(JAK3):c.1878G>C (p.Gln626His) rs2147684176
NM_000215.4(JAK3):c.1881G>A (p.Val627=)
NM_000215.4(JAK3):c.1888C>T (p.Gln630Ter)
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.1896C>G (p.Ala632=)
NM_000215.4(JAK3):c.18A>G (p.Glu6=)
NM_000215.4(JAK3):c.1907A>G (p.Asn636Ser)
NM_000215.4(JAK3):c.1912C>G (p.Leu638Val) rs757311496
NM_000215.4(JAK3):c.1914+13C>G
NM_000215.4(JAK3):c.1914+17C>T rs2147684071
NM_000215.4(JAK3):c.1914+1G>A rs936493226
NM_000215.4(JAK3):c.1915-10G>A
NM_000215.4(JAK3):c.1915-17G>C
NM_000215.4(JAK3):c.1915-1G>A
NM_000215.4(JAK3):c.1915-6C>T
NM_000215.4(JAK3):c.1915-7C>A
NM_000215.4(JAK3):c.1917G>A (p.Glu639=)
NM_000215.4(JAK3):c.1926C>A (p.Gly642=)
NM_000215.4(JAK3):c.1951C>T (p.Arg651Trp)
NM_000215.4(JAK3):c.1953G>C (p.Arg651=)
NM_000215.4(JAK3):c.1969C>T (p.Arg657Trp) rs1568403015
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.1977G>T (p.Gly659=)
NM_000215.4(JAK3):c.1980T>C (p.Ala660=)
NM_000215.4(JAK3):c.1990C>A (p.Pro664Thr) rs575352564
NM_000215.4(JAK3):c.1997TCA[1] (p.Ile667del) rs2147682930
NM_000215.4(JAK3):c.2004G>A (p.Lys668=)
NM_000215.4(JAK3):c.2005C>T (p.Leu669=)
NM_000215.4(JAK3):c.2016T>C (p.Pro672=) rs200250579
NM_000215.4(JAK3):c.2028C>G (p.Pro676=)
NM_000215.4(JAK3):c.2028del (p.Ala677fs)
NM_000215.4(JAK3):c.2029G>A (p.Ala677Thr)
NM_000215.4(JAK3):c.2030C>G (p.Ala677Gly)
NM_000215.4(JAK3):c.2031T>C (p.Ala677=)
NM_000215.4(JAK3):c.2047+19A>T rs2147682659
NM_000215.4(JAK3):c.2047+20G>C
NM_000215.4(JAK3):c.2047+5G>C
NM_000215.4(JAK3):c.2048-18C>T
NM_000215.4(JAK3):c.2048-19C>A rs2147682566
NM_000215.4(JAK3):c.2048-19C>G
NM_000215.4(JAK3):c.2048-4T>G rs1599870679
NM_000215.4(JAK3):c.2048-9T>C
NM_000215.4(JAK3):c.2055C>A (p.Thr685=)
NM_000215.4(JAK3):c.2055C>G (p.Thr685=)
NM_000215.4(JAK3):c.2067C>T (p.Pro689=)
NM_000215.4(JAK3):c.2073G>A (p.Val691=)
NM_000215.4(JAK3):c.2076C>T (p.Ala692=)
NM_000215.4(JAK3):c.2096C>T (p.Ala699Val)
NM_000215.4(JAK3):c.213T>C (p.Phe71=)
NM_000215.4(JAK3):c.2157T>C (p.Phe719=)
NM_000215.4(JAK3):c.2158A>T (p.Ser720Cys)
NM_000215.4(JAK3):c.2165T>C (p.Val722Ala) rs1322146058
NM_000215.4(JAK3):c.2177T>G (p.Ile726Ser)
NM_000215.4(JAK3):c.2181T>C (p.Ser727=)
NM_000215.4(JAK3):c.2185C>T (p.Leu729=)
NM_000215.4(JAK3):c.2196T>C (p.Ala732=)
NM_000215.4(JAK3):c.2199+14A>C
NM_000215.4(JAK3):c.2199+15C>T
NM_000215.4(JAK3):c.2199+17C>T
NM_000215.4(JAK3):c.2199+18G>A
NM_000215.4(JAK3):c.2199+20C>T
NM_000215.4(JAK3):c.2199+4A>G rs2094221083
NM_000215.4(JAK3):c.2199+8C>G
NM_000215.4(JAK3):c.2199+8C>T
NM_000215.4(JAK3):c.2200-12T>C
NM_000215.4(JAK3):c.2200-13C>T
NM_000215.4(JAK3):c.2200-14C>T
NM_000215.4(JAK3):c.2200-17G>T
NM_000215.4(JAK3):c.2200-5dup
NM_000215.4(JAK3):c.2200-8A>G
NM_000215.4(JAK3):c.2208A>G (p.Gln736=)
NM_000215.4(JAK3):c.2219A>G (p.Asp740Gly)
NM_000215.4(JAK3):c.2222G>A (p.Arg741Gln) rs202027945
NM_000215.4(JAK3):c.2258C>A (p.Ala753Asp) rs2094220604
NM_000215.4(JAK3):c.2259C>G (p.Ala753=)
NM_000215.4(JAK3):c.225G>T (p.Thr75=)
NM_000215.4(JAK3):c.2261T>C (p.Leu754Pro)
NM_000215.4(JAK3):c.2263del (p.Leu754_Leu755insTer)
NM_000215.4(JAK3):c.2272C>T (p.Gln758Ter)
NM_000215.4(JAK3):c.2279T>C (p.Met760Thr)
NM_000215.4(JAK3):c.2280G>T (p.Met760Ile)
NM_000215.4(JAK3):c.2304C>T (p.Pro768=)
NM_000215.4(JAK3):c.2311C>A (p.Arg771=)
NM_000215.4(JAK3):c.2316C>T (p.Ala772=)
NM_000215.4(JAK3):c.2319_2325dup (p.Asp776delinsHisSerTer)
NM_000215.4(JAK3):c.231C>T (p.Asp77=) rs771323120
NM_000215.4(JAK3):c.2324G>A (p.Arg775His) rs1251299279
NM_000215.4(JAK3):c.2345C>T (p.Ser782Phe)
NM_000215.4(JAK3):c.2348C>T (p.Ser783Leu)
NM_000215.4(JAK3):c.2349A>T (p.Ser783=)
NM_000215.4(JAK3):c.2350+12G>A rs199675950
NM_000215.4(JAK3):c.2350+12G>C
NM_000215.4(JAK3):c.2350+14C>G
NM_000215.4(JAK3):c.2350+14C>T rs771815977
NM_000215.4(JAK3):c.2350+15G>A
NM_000215.4(JAK3):c.2350+16G>A
NM_000215.4(JAK3):c.2350+18T>C
NM_000215.4(JAK3):c.2350+1G>C
NM_000215.4(JAK3):c.2350+1G>T
NM_000215.4(JAK3):c.2350+5C>T rs2147681249
NM_000215.4(JAK3):c.2350G>A (p.Asp784Asn)
NM_000215.4(JAK3):c.2351-15A>G
NM_000215.4(JAK3):c.2351-18C>T
NM_000215.4(JAK3):c.2351-5C>A rs2094217117
NM_000215.4(JAK3):c.2351-6C>T
NM_000215.4(JAK3):c.2351-7A>T
NM_000215.4(JAK3):c.2358G>A (p.Glu786=) rs1057518544
NM_000215.4(JAK3):c.235_242dup (p.Trp81fs)
NM_000215.4(JAK3):c.2364C>T (p.Leu788=)
NM_000215.4(JAK3):c.237C>A (p.Ser79=)
NM_000215.4(JAK3):c.2381G>A (p.Gly794Asp) rs935305331
NM_000215.4(JAK3):c.2382T>G (p.Gly794=)
NM_000215.4(JAK3):c.2394T>G (p.Pro798=)
NM_000215.4(JAK3):c.2397T>C (p.Arg799=)
NM_000215.4(JAK3):c.2406G>A (p.Leu802=)
NM_000215.4(JAK3):c.2408G>A (p.Trp803Ter)
NM_000215.4(JAK3):c.2419C>T (p.Gln807Ter)
NM_000215.4(JAK3):c.2430C>G (p.Ala810=)
NM_000215.4(JAK3):c.2430C>T (p.Ala810=)
NM_000215.4(JAK3):c.2442C>A (p.Pro814=) rs201364561
NM_000215.4(JAK3):c.2445G>A (p.Thr815=)
NM_000215.4(JAK3):c.2466C>G (p.Leu822=)
NM_000215.4(JAK3):c.246C>T (p.Phe82=)
NM_000215.4(JAK3):c.2477C>G (p.Ser826Ter)
NM_000215.4(JAK3):c.2481G>A (p.Gln827=)
NM_000215.4(JAK3):c.2490+14G>A
NM_000215.4(JAK3):c.2490+15G>C
NM_000215.4(JAK3):c.2490+17C>A rs1012424691
NM_000215.4(JAK3):c.2490+17C>T
NM_000215.4(JAK3):c.2490+1G>T rs2147678827
NM_000215.4(JAK3):c.2491-12G>A
NM_000215.4(JAK3):c.2491-13C>T
NM_000215.4(JAK3):c.2491-15C>T
NM_000215.4(JAK3):c.2491-16T>G rs2147678611
NM_000215.4(JAK3):c.2491-8T>C
NM_000215.4(JAK3):c.2495A>G (p.Asn832Ser) rs2147678543
NM_000215.4(JAK3):c.24G>A (p.Thr8=)
NM_000215.4(JAK3):c.2512C>T (p.Leu838=)
NM_000215.4(JAK3):c.2514G>C (p.Leu838=)
NM_000215.4(JAK3):c.2519G>T (p.Arg840Leu) rs140837014
NM_000215.4(JAK3):c.251C>T (p.Pro84Leu)
NM_000215.4(JAK3):c.2523_2532del (p.Arg840_Tyr841insTer)
NM_000215.4(JAK3):c.2530C>G (p.Leu844Val) rs2147678424
NM_000215.4(JAK3):c.2536G>A (p.Asp846Asn)
NM_000215.4(JAK3):c.2547T>G (p.Gly849=)
NM_000215.4(JAK3):c.2550C>A (p.Ala850=)
NM_000215.4(JAK3):c.2552del (p.Leu851fs)
NM_000215.4(JAK3):c.2553G>C (p.Leu851=)
NM_000215.4(JAK3):c.2554G>C (p.Val852Leu)
NM_000215.4(JAK3):c.2559C>A (p.Ala853=)
NM_000215.4(JAK3):c.2559C>T (p.Ala853=)
NM_000215.4(JAK3):c.2562G>C (p.Val854=) rs2147678363
NM_000215.4(JAK3):c.2565A>G (p.Lys855=)
NM_000215.4(JAK3):c.2571G>A (p.Leu857=)
NM_000215.4(JAK3):c.2580C>T (p.Ser860=)
NM_000215.4(JAK3):c.2581G>A (p.Gly861Arg) rs200784656
NM_000215.4(JAK3):c.2596A>C (p.Arg866=)
NM_000215.4(JAK3):c.2609G>C (p.Arg870Pro)
NM_000215.4(JAK3):c.260TCT[1] (p.Phe88del) rs1568408091
NM_000215.4(JAK3):c.2613G>A (p.Glu871=)
NM_000215.4(JAK3):c.2615T>C (p.Ile872Thr) rs2094216320
NM_000215.4(JAK3):c.2634G>A (p.Leu878=)
NM_000215.4(JAK3):c.2637C>T (p.His879=)
NM_000215.4(JAK3):c.2652C>T (p.Val884=) rs2094216237
NM_000215.4(JAK3):c.2659C>T (p.Arg887Cys) rs759015510
NM_000215.4(JAK3):c.2664T>G (p.Gly888=) rs2147678142
NM_000215.4(JAK3):c.2667C>G (p.Val889=)
NM_000215.4(JAK3):c.2670C>G (p.Ser890Arg)
NM_000215.4(JAK3):c.267C>T (p.Ser89=)
NM_000215.4(JAK3):c.2680+14C>T
NM_000215.4(JAK3):c.2680+19G>A
NM_000215.4(JAK3):c.2680+89G>A
NM_000215.4(JAK3):c.2680+8A>C
NM_000215.4(JAK3):c.2680+9G>A rs935414486
NM_000215.4(JAK3):c.2680+9G>C
NM_000215.4(JAK3):c.2681-12T>C
NM_000215.4(JAK3):c.2681-4C>T
NM_000215.4(JAK3):c.2681-6C>T
NM_000215.4(JAK3):c.2681-9C>A
NM_000215.4(JAK3):c.2682C>T (p.Gly894=)
NM_000215.4(JAK3):c.2693T>G (p.Leu898Arg) rs2094215030
NM_000215.4(JAK3):c.2694G>A (p.Leu898=)
NM_000215.4(JAK3):c.2697G>T (p.Arg899=)
NM_000215.4(JAK3):c.2704A>G (p.Met902Val) rs200855932
NM_000215.4(JAK3):c.2709G>A (p.Glu903=)
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
NM_000215.4(JAK3):c.2716C>T (p.Pro906Ser)
NM_000215.4(JAK3):c.2719A>G (p.Ser907Gly) rs1259843283
NM_000215.4(JAK3):c.2721C>T (p.Ser907=)
NM_000215.4(JAK3):c.2733C>A (p.Arg911=)
NM_000215.4(JAK3):c.2734G>T (p.Asp912Tyr) rs2147676935
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
NM_000215.4(JAK3):c.2748G>A (p.Arg916=)
NM_000215.4(JAK3):c.2751C>T (p.His917=)
NM_000215.4(JAK3):c.2753G>C (p.Arg918Pro) rs753577833
NM_000215.4(JAK3):c.2754_2755delinsGC (p.Ala919Pro) rs2147676832
NM_000215.4(JAK3):c.2755G>C (p.Ala919Pro)
NM_000215.4(JAK3):c.2757G>A (p.Ala919=)
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.2763C>T (p.Leu921=)
NM_000215.4(JAK3):c.2764G>C (p.Asp922His) rs763951351
NM_000215.4(JAK3):c.2769C>T (p.Ala923=)
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.2773C>T (p.Arg925Cys) rs149452625
NM_000215.4(JAK3):c.2784C>G (p.Leu928=)
NM_000215.4(JAK3):c.2787T>G (p.Tyr929Ter)
NM_000215.4(JAK3):c.2805+11dup
NM_000215.4(JAK3):c.2805+17dup rs2147676559
NM_000215.4(JAK3):c.2805+4C>A
NM_000215.4(JAK3):c.2805+7G>A
NM_000215.4(JAK3):c.2805+7G>C
NM_000215.4(JAK3):c.2806-12G>C
NM_000215.4(JAK3):c.2806-12G>T
NM_000215.4(JAK3):c.2806-14CCGC[4] rs1599867265
NM_000215.4(JAK3):c.2806-18C>G
NM_000215.4(JAK3):c.2806-2A>C
NM_000215.4(JAK3):c.2806-4G>A
NM_000215.4(JAK3):c.2806-5C>T
NM_000215.4(JAK3):c.2806-8G>T
NM_000215.4(JAK3):c.2809A>G (p.Met937Val)
NM_000215.4(JAK3):c.2818C>T (p.Leu940=)
NM_000215.4(JAK3):c.281G>A (p.Ser94Asn)
NM_000215.4(JAK3):c.2829C>T (p.Arg943=)
NM_000215.4(JAK3):c.2835C>T (p.Cys945=)
NM_000215.4(JAK3):c.2841C>T (p.His947=)
NM_000215.4(JAK3):c.2842C>G (p.Arg948Gly)
NM_000215.4(JAK3):c.2850G>T (p.Leu950=) rs2094214171
NM_000215.4(JAK3):c.2854G>T (p.Ala952Ser)
NM_000215.4(JAK3):c.2865C>T (p.Ile955=)
NM_000215.4(JAK3):c.2867T>C (p.Leu956Pro)
NM_000215.4(JAK3):c.2868C>T (p.Leu956=)
NM_000215.4(JAK3):c.2908C>T (p.Leu970=)
NM_000215.4(JAK3):c.291C>T (p.Val97=)
NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs) rs1380154594
NM_000215.4(JAK3):c.2937C>G (p.Asp979Glu) rs2147675743
NM_000215.4(JAK3):c.2943C>T (p.Tyr981=)
NM_000215.4(JAK3):c.2964G>A (p.Gln988=)
NM_000215.4(JAK3):c.2970C>T (p.Pro990=)
NM_000215.4(JAK3):c.2973T>C (p.Ile991=)
NM_000215.4(JAK3):c.2978+10_2978+11del
NM_000215.4(JAK3):c.2978+11del
NM_000215.4(JAK3):c.2978+12G>A rs1164733759
NM_000215.4(JAK3):c.2978+1G>C
NM_000215.4(JAK3):c.2979-16C>T
NM_000215.4(JAK3):c.2979-6C>T
NM_000215.4(JAK3):c.2979-8C>T
NM_000215.4(JAK3):c.2979-8_2979-6dup
NM_000215.4(JAK3):c.2979G>A (p.Trp993Ter)
NM_000215.4(JAK3):c.297G>A (p.Leu99=) rs3212716
NM_000215.4(JAK3):c.2982T>C (p.Tyr994=)
NM_000215.4(JAK3):c.2987C>T (p.Pro996Leu)
NM_000215.4(JAK3):c.2988C>G (p.Pro996=)
NM_000215.4(JAK3):c.2989G>T (p.Glu997Ter) rs1568400897
NM_000215.4(JAK3):c.2996T>C (p.Leu999Pro)
NM_000215.4(JAK3):c.299A>G (p.Tyr100Cys) rs137852624
NM_000215.4(JAK3):c.3002ACA[1] (p.Asn1002del)
NM_000215.4(JAK3):c.3008TCT[1] (p.Phe1004del)
NM_000215.4(JAK3):c.3012C>T (p.Phe1004=)
NM_000215.4(JAK3):c.3027C>T (p.Asp1009=)
NM_000215.4(JAK3):c.3032G>A (p.Trp1011Ter) rs2147674587
NM_000215.4(JAK3):c.3039C>T (p.Phe1013=)
NM_000215.4(JAK3):c.3045C>T (p.Val1015=)
NM_000215.4(JAK3):c.3048C>T (p.Val1016=)
NM_000215.4(JAK3):c.3066C>G (p.Thr1022=)
NM_000215.4(JAK3):c.3066C>T (p.Thr1022=) rs200112920
NM_000215.4(JAK3):c.3071_3072delinsAA (p.Cys1024Ter)
NM_000215.4(JAK3):c.308+11C>T
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000215.4(JAK3):c.308+16dup rs3212717
NM_000215.4(JAK3):c.308+18G>A
NM_000215.4(JAK3):c.308+19C>T
NM_000215.4(JAK3):c.308+2T>C
NM_000215.4(JAK3):c.308+5del
NM_000215.4(JAK3):c.308+8G>C
NM_000215.4(JAK3):c.3084C>T (p.Cys1028=) rs200096249
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
NM_000215.4(JAK3):c.3087C>G (p.Ser1029Arg) rs202044618
NM_000215.4(JAK3):c.3087C>T (p.Ser1029=)
NM_000215.4(JAK3):c.309-11T>C
NM_000215.4(JAK3):c.309-17C>G
NM_000215.4(JAK3):c.309-19T>C
NM_000215.4(JAK3):c.309-7C>T
NM_000215.4(JAK3):c.309-7dup rs2147699635
NM_000215.4(JAK3):c.309-8C>T
NM_000215.4(JAK3):c.3094G>A (p.Ala1032Thr) rs2094211935
NM_000215.4(JAK3):c.3096+10C>T
NM_000215.4(JAK3):c.3096+15C>G
NM_000215.4(JAK3):c.3096+19G>A
NM_000215.4(JAK3):c.3096+1G>T
NM_000215.4(JAK3):c.3096+20C>A rs765910786
NM_000215.4(JAK3):c.3096+20C>T
NM_000215.4(JAK3):c.3096+8G>C rs374300158
NM_000215.4(JAK3):c.3096+9G>C
NM_000215.4(JAK3):c.3097-12C>T
NM_000215.4(JAK3):c.3097-15C>G
NM_000215.4(JAK3):c.3097-17C>T
NM_000215.4(JAK3):c.3097-18G>T
NM_000215.4(JAK3):c.30G>A (p.Leu10=)
NM_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.3108G>A (p.Arg1036=)
NM_000215.4(JAK3):c.3113T>C (p.Met1038Thr)
NM_000215.4(JAK3):c.3123G>A (p.Glu1041=)
NM_000215.4(JAK3):c.3135C>T (p.Pro1045=)
NM_000215.4(JAK3):c.3141C>G (p.Leu1047=)
NM_000215.4(JAK3):c.3146G>T (p.Arg1049Leu) rs750073941
NM_000215.4(JAK3):c.3151T>C (p.Leu1051=)
NM_000215.4(JAK3):c.3159G>T (p.Leu1053=)
NM_000215.4(JAK3):c.3160C>A (p.Leu1054Met)
NM_000215.4(JAK3):c.3161T>C (p.Leu1054Pro)
NM_000215.4(JAK3):c.3164A>G (p.Glu1055Gly)
NM_000215.4(JAK3):c.3165G>A (p.Glu1055=) rs1599865897
NM_000215.4(JAK3):c.3174G>A (p.Gln1058=) rs773788067
NM_000215.4(JAK3):c.3183G>A (p.Pro1061=)
NM_000215.4(JAK3):c.3201T>G (p.Pro1067=)
NM_000215.4(JAK3):c.3207+10G>A rs866815271
NM_000215.4(JAK3):c.3207+17dup
NM_000215.4(JAK3):c.3207+9C>A
NM_000215.4(JAK3):c.3207+9C>T
NM_000215.4(JAK3):c.3207G>A (p.Glu1069=)
NM_000215.4(JAK3):c.3208-11C>T
NM_000215.4(JAK3):c.3208-12C>T
NM_000215.4(JAK3):c.3208-16G>T rs200008494
NM_000215.4(JAK3):c.3208-18C>T
NM_000215.4(JAK3):c.3208-9G>T
NM_000215.4(JAK3):c.3214G>C (p.Glu1072Gln) rs752088869
NM_000215.4(JAK3):c.3225G>A (p.Lys1075=)
NM_000215.4(JAK3):c.324T>C (p.Asn108=)
NM_000215.4(JAK3):c.3252C>T (p.Asp1084=)
NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp) rs1265005806
NM_000215.4(JAK3):c.3270C>A (p.Ala1090=)
NM_000215.4(JAK3):c.3270C>T (p.Ala1090=)
NM_000215.4(JAK3):c.3274G>A (p.Gly1092Ser)
NM_000215.4(JAK3):c.3275G>A (p.Gly1092Asp)
NM_000215.4(JAK3):c.3276C>A (p.Gly1092=) rs199611932
NM_000215.4(JAK3):c.3279C>T (p.Pro1093=)
NM_000215.4(JAK3):c.3282G>A (p.Gln1094=) rs577496865
NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu) rs201301192
NM_000215.4(JAK3):c.3312G>A (p.Gly1104=)
NM_000215.4(JAK3):c.3312G>T (p.Gly1104=)
NM_000215.4(JAK3):c.3317A>G (p.Glu1106Gly)
NM_000215.4(JAK3):c.3340C>T (p.Pro1114Ser)
NM_000215.4(JAK3):c.3356A>G (p.His1119Arg) rs1275983760
NM_000215.4(JAK3):c.3360C>G (p.Ser1120=) rs1217168188
NM_000215.4(JAK3):c.3371C>T (p.Ser1124Leu) rs1599862815
NM_000215.4(JAK3):c.3371_3372insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGCCCTGGGCCGCAGCGCAGCCGCGCAAACCACCACCCGCGGCCACCATGGCCGGACAGTATAATTTCCCCTGTCCTTTTC (p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer)
NM_000215.4(JAK3):c.342G>A (p.Lys114=)
NM_000215.4(JAK3):c.350G>A (p.Arg117His) rs2094244927
NM_000215.4(JAK3):c.355G>C (p.Gly119Arg) rs763832096
NM_000215.4(JAK3):c.357G>T (p.Gly119=)
NM_000215.4(JAK3):c.361C>G (p.Arg121Gly) rs776850935
NM_000215.4(JAK3):c.363C>T (p.Arg121=)
NM_000215.4(JAK3):c.367G>A (p.Asp123Asn) rs201419310
NM_000215.4(JAK3):c.381T>C (p.Ala127=) rs587778418
NM_000215.4(JAK3):c.387T>A (p.Leu129=)
NM_000215.4(JAK3):c.393G>T (p.Leu131=)
NM_000215.4(JAK3):c.405G>A (p.Glu135=) rs867072615
NM_000215.4(JAK3):c.420+2T>C
NM_000215.4(JAK3):c.421-10G>A rs976205515
NM_000215.4(JAK3):c.421-11C>T
NM_000215.4(JAK3):c.421-16del
NM_000215.4(JAK3):c.421-19C>G
NM_000215.4(JAK3):c.421-4_421-3del
NM_000215.4(JAK3):c.421-6C>T
NM_000215.4(JAK3):c.421-7C>G
NM_000215.4(JAK3):c.421-7C>T rs200101939
NM_000215.4(JAK3):c.421-9G>T
NM_000215.4(JAK3):c.421-9del
NM_000215.4(JAK3):c.423C>T (p.His141=)
NM_000215.4(JAK3):c.425G>T (p.Arg142Leu)
NM_000215.4(JAK3):c.432C>T (p.Asp144=)
NM_000215.4(JAK3):c.437T>G (p.Val146Gly)
NM_000215.4(JAK3):c.445C>A (p.Arg149Ser) rs1342240526
NM_000215.4(JAK3):c.446G>C (p.Arg149Pro) rs774941503
NM_000215.4(JAK3):c.450C>A (p.Leu150=)
NM_000215.4(JAK3):c.450C>T (p.Leu150=)
NM_000215.4(JAK3):c.453C>T (p.Pro151=)
NM_000215.4(JAK3):c.471G>A (p.Lys157=)
NM_000215.4(JAK3):c.492C>T (p.Ser164=)
NM_000215.4(JAK3):c.495G>A (p.Leu165=)
NM_000215.4(JAK3):c.498C>A (p.Ala166=) rs201527800
NM_000215.4(JAK3):c.4G>C (p.Ala2Pro)
NM_000215.4(JAK3):c.501G>T (p.Val167=) rs1599880049
NM_000215.4(JAK3):c.502T>C (p.Leu168=) rs1599880046
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu) rs147181709
NM_000215.4(JAK3):c.516G>A (p.Arg172=) rs1599880017
NM_000215.4(JAK3):c.522G>C (p.Ala174=)
NM_000215.4(JAK3):c.523C>T (p.Arg175Ter)
NM_000215.4(JAK3):c.528G>A (p.Glu176=)
NM_000215.4(JAK3):c.528G>C (p.Glu176Asp)
NM_000215.4(JAK3):c.534C>T (p.Ala178=)
NM_000215.4(JAK3):c.537G>A (p.Gln179=)
NM_000215.4(JAK3):c.538C>A (p.Arg180=)
NM_000215.4(JAK3):c.538_543del (p.Arg180_Pro181del)
NM_000215.4(JAK3):c.540G>T (p.Arg180=)
NM_000215.4(JAK3):c.548del (p.Glu183fs)
NM_000215.4(JAK3):c.564C>T (p.Val188=)
NM_000215.4(JAK3):c.566+11C>T
NM_000215.4(JAK3):c.566+13A>C
NM_000215.4(JAK3):c.566+15G>C
NM_000215.4(JAK3):c.566+19T>G
NM_000215.4(JAK3):c.566+20G>A
NM_000215.4(JAK3):c.566+6_566+41del rs754402855
NM_000215.4(JAK3):c.567-15C>T
NM_000215.4(JAK3):c.567-15del
NM_000215.4(JAK3):c.567-16C>T
NM_000215.4(JAK3):c.567-17C>G
NM_000215.4(JAK3):c.567-17C>T
NM_000215.4(JAK3):c.567-18C>A
NM_000215.4(JAK3):c.567-18C>T
NM_000215.4(JAK3):c.567-6C>T
NM_000215.4(JAK3):c.567-9C>T
NM_000215.4(JAK3):c.578G>A (p.Cys193Tyr) rs1467075214
NM_000215.4(JAK3):c.594G>T (p.Leu198=)
NM_000215.4(JAK3):c.598G>A (p.Asp200Asn)
NM_000215.4(JAK3):c.5C>T (p.Ala2Val) rs1568408509
NM_000215.4(JAK3):c.606C>A (p.Ile202=)
NM_000215.4(JAK3):c.607C>T (p.Gln203Ter)
NM_000215.4(JAK3):c.60C>T (p.Ser20=)
NM_000215.4(JAK3):c.610_611delinsAA (p.Gly204Asn) rs2094242511
NM_000215.4(JAK3):c.619T>G (p.Phe207Val)
NM_000215.4(JAK3):c.621C>T (p.Phe207=)
NM_000215.4(JAK3):c.628C>T (p.Arg210Trp)
NM_000215.4(JAK3):c.62C>T (p.Thr21Met) rs752820429
NM_000215.4(JAK3):c.631A>G (p.Arg211Gly)
NM_000215.4(JAK3):c.633G>T (p.Arg211Ser)
NM_000215.4(JAK3):c.637A>C (p.Ile213Leu) rs1007002260
NM_000215.4(JAK3):c.639T>C (p.Ile213=)
NM_000215.4(JAK3):c.63G>C (p.Thr21=)
NM_000215.4(JAK3):c.643A>C (p.Arg215=)
NM_000215.4(JAK3):c.648G>T (p.Thr216=) rs200376035
NM_000215.4(JAK3):c.653G>T (p.Arg218Leu) rs201460834
NM_000215.4(JAK3):c.660C>T (p.Ala220=)
NM_000215.4(JAK3):c.664_670del (p.Arg222fs)
NM_000215.4(JAK3):c.666C>T (p.Arg222=)
NM_000215.4(JAK3):c.668G>A (p.Arg223His)
NM_000215.4(JAK3):c.669C>T (p.Arg223=)
NM_000215.4(JAK3):c.678C>G (p.Ala226=) rs2147697716
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000215.4(JAK3):c.698C>G (p.Ser233Trp) rs941028266
NM_000215.4(JAK3):c.708C>T (p.Ala236=)
NM_000215.4(JAK3):c.717C>A (p.Ile239=)
NM_000215.4(JAK3):c.718A>G (p.Met240Val)
NM_000215.4(JAK3):c.722_723insAGGA (p.Asp241fs)
NM_000215.4(JAK3):c.744C>A (p.Ala248=)
NM_000215.4(JAK3):c.744C>G (p.Ala248=)
NM_000215.4(JAK3):c.744C>T (p.Ala248=)
NM_000215.4(JAK3):c.749C>T (p.Ala250Val) rs1286914027
NM_000215.4(JAK3):c.750C>T (p.Ala250=)
NM_000215.4(JAK3):c.753C>G (p.Ala251=)
NM_000215.4(JAK3):c.756G>A (p.Glu252=)
NM_000215.4(JAK3):c.757A>G (p.Thr253Ala)
NM_000215.4(JAK3):c.76C>T (p.Leu26=)
NM_000215.4(JAK3):c.773_775del (p.Leu258del)
NM_000215.4(JAK3):c.774C>T (p.Leu258=)
NM_000215.4(JAK3):c.783C>T (p.Ala261=)
NM_000215.4(JAK3):c.784C>T (p.Leu262Phe)
NM_000215.4(JAK3):c.786T>C (p.Leu262=)
NM_000215.4(JAK3):c.78G>A (p.Leu26=)
NM_000215.4(JAK3):c.792C>T (p.Gly264=)
NM_000215.4(JAK3):c.805G>A (p.Gly269Arg) rs766895335
NM_000215.4(JAK3):c.806G>A (p.Gly269Glu)
NM_000215.4(JAK3):c.813C>T (p.Leu271=)
NM_000215.4(JAK3):c.81T>A (p.His27Gln) rs1039181282
NM_000215.4(JAK3):c.822T>C (p.Ala274=)
NM_000215.4(JAK3):c.822T>G (p.Ala274=)
NM_000215.4(JAK3):c.828C>A (p.Asp276Glu) rs569160156
NM_000215.4(JAK3):c.828C>T (p.Asp276=)
NM_000215.4(JAK3):c.829G>A (p.Gly277Ser)
NM_000215.4(JAK3):c.831C>T (p.Gly277=)
NM_000215.4(JAK3):c.838G>T (p.Ala280Ser)
NM_000215.4(JAK3):c.843G>C (p.Trp281Cys) rs587778419
NM_000215.4(JAK3):c.846C>A (p.Thr282=)
NM_000215.4(JAK3):c.850G>C (p.Gly284Arg)
NM_000215.4(JAK3):c.852A>G (p.Gly284=)
NM_000215.4(JAK3):c.858G>A (p.Gln286=)
NM_000215.4(JAK3):c.859G>A (p.Glu287Lys) rs776551276
NM_000215.4(JAK3):c.861+18C>T
NM_000215.4(JAK3):c.861+19G>C
NM_000215.4(JAK3):c.861+6G>A rs748305273
NM_000215.4(JAK3):c.861+9G>T rs779139433
NM_000215.4(JAK3):c.862-11C>A rs752415312
NM_000215.4(JAK3):c.862-11dup
NM_000215.4(JAK3):c.862-12C>G
NM_000215.4(JAK3):c.862-13C>A
NM_000215.4(JAK3):c.862-13C>G
NM_000215.4(JAK3):c.862-15C>G rs1335495836
NM_000215.4(JAK3):c.862-16T>A
NM_000215.4(JAK3):c.862-18A>C
NM_000215.4(JAK3):c.862-2A>G rs1057523762
NM_000215.4(JAK3):c.862-5C>A rs2147695701
NM_000215.4(JAK3):c.862-8C>T
NM_000215.4(JAK3):c.870G>T (p.Gln290His) rs2147695669
NM_000215.4(JAK3):c.873C>A (p.Pro291=)
NM_000215.4(JAK3):c.873C>T (p.Pro291=)
NM_000215.4(JAK3):c.879C>T (p.Cys293=)
NM_000215.4(JAK3):c.898G>A (p.Asp300Asn) rs1216814401
NM_000215.4(JAK3):c.900C>T (p.Asp300=)
NM_000215.4(JAK3):c.904_908dup (p.Lys304fs)
NM_000215.4(JAK3):c.906C>T (p.Ser302=)
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter) rs786205517
NM_000215.4(JAK3):c.915G>C (p.Gln305His) rs200731212
NM_000215.4(JAK3):c.918C>G (p.Ala306=) rs775577056
NM_000215.4(JAK3):c.918C>T (p.Ala306=)
NM_000215.4(JAK3):c.924C>G (p.Arg308=)
NM_000215.4(JAK3):c.926T>C (p.Val309Ala) rs2094239394
NM_000215.4(JAK3):c.933G>C (p.Pro311=)
NM_000215.4(JAK3):c.936dup (p.Gly313fs)
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000215.4(JAK3):c.939A>G (p.Gly313=)
NM_000215.4(JAK3):c.941A>G (p.Glu314Gly)
NM_000215.4(JAK3):c.944A>G (p.His315Arg) rs2094239321
NM_000215.4(JAK3):c.947G>A (p.Arg316His) rs778229078
NM_000215.4(JAK3):c.949C>T (p.Leu317=)
NM_000215.4(JAK3):c.958_959del (p.Val320fs)
NM_000215.4(JAK3):c.960T>C (p.Val320=)
NM_000215.4(JAK3):c.963C>A (p.Thr321=)
NM_000215.4(JAK3):c.970_973del (p.Asp324fs)
NM_000215.4(JAK3):c.971A>T (p.Asp324Val) rs1291046706
NM_000215.4(JAK3):c.975C>T (p.Asn325=)
NM_000215.4(JAK3):c.976C>A (p.Gln326Lys)
NM_000215.4(JAK3):c.97C>A (p.Arg33=)
NM_000215.4(JAK3):c.982T>A (p.Leu328Ile) rs1418117194
NM_000215.4(JAK3):c.984+11G>A
NM_000215.4(JAK3):c.984+15C>G
NM_000215.4(JAK3):c.984+17C>T
NM_000215.4(JAK3):c.985-11G>T
NM_000215.4(JAK3):c.985-14C>G
NM_000215.4(JAK3):c.985-15G>A rs200067874
NM_000215.4(JAK3):c.985-15G>T
NM_000215.4(JAK3):c.985-16C>G
NM_000215.4(JAK3):c.985-17A>G
NM_000215.4(JAK3):c.985-18G>A
NM_000215.4(JAK3):c.985-4G>T
NM_000215.4(JAK3):c.985-6T>C
NM_000215.4(JAK3):c.985-7C>T
NM_000215.4(JAK3):c.985-9C>T
NM_000215.4(JAK3):c.987G>A (p.Glu329=)
NM_000215.4(JAK3):c.990C>T (p.Ala330=)
NM_000215.4(JAK3):c.993G>A (p.Glu331=)

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