NM_000215.4(JAK3):c.3096+18A>G
|
rs2302603
|
0.36048
|
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.1254+20G>A
|
rs3212742
|
0.01436
|
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.452C>G (p.Pro151Arg)
|
rs55778349
|
0.00647
|
NM_000215.4(JAK3):c.2806-13C>T
|
rs193156379
|
0.00498
|
NM_000215.4(JAK3):c.1548C>T (p.Ile516=)
|
rs144203232
|
0.00372
|
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.1581G>A (p.Leu527=)
|
rs3213408
|
0.00121
|
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)
|
rs138645044
|
0.00119
|
NM_000215.4(JAK3):c.1995C>T (p.Pro665=)
|
rs3212768
|
0.00108
|
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.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.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.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.183C>T (p.Ser61=)
|
rs200269517
|
0.00014
|
NM_000215.4(JAK3):c.1142C>A (p.Thr381Asn)
|
rs373046546
|
0.00013
|
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)
|
rs571404212
|
0.00012
|
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.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.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_000215.4(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.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.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.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.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.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_000215.4(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.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.1586A>G (p.His529Arg)
|
rs142805245
|
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.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
|
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_000215.4(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.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+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.1269T>C (p.Pro423=)
|
rs1555744931
|
|
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.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.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.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.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.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.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.2478A>C (p.Ser826=)
|
rs1599868483
|
|
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.2643T>C (p.Asp881=)
|
rs1599868171
|
|
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.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.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+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.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.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=)
|
|
|