NM_002185.5(IL7R):c.412G>A (p.Val138Ile)
|
rs1494555
|
0.72524
|
NM_002185.5(IL7R):c.82+16G>C
|
rs1353252
|
0.71907
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
NM_007074.4(CORO1A):c.336A>G (p.Pro112=)
|
rs1132812
|
0.67557
|
NM_000732.6(CD3D):c.451-18T>G
|
rs2276424
|
0.61431
|
NM_002185.5(IL7R):c.801-21A>T
|
rs987106
|
0.53084
|
NM_000215.4(JAK3):c.3096+18A>G
|
rs2302603
|
0.36048
|
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val)
|
rs3194051
|
0.28365
|
NM_000733.4(CD3E):c.54C>T (p.Gly18=)
|
rs1126924
|
0.25335
|
NM_002838.5(PTPRC):c.2143-19C>T
|
rs6683595
|
0.22635
|
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile)
|
rs6897932
|
0.21045
|
NM_002838.5(PTPRC):c.2316C>T (p.Gly772=)
|
rs7540378
|
0.16920
|
NM_007074.4(CORO1A):c.1065+14G>A
|
rs35900366
|
0.16173
|
NM_002185.5(IL7R):c.495C>T (p.His165=)
|
rs2228141
|
0.13289
|
NM_000215.4(JAK3):c.1701+9A>G
|
rs3212752
|
0.12273
|
NM_198053.3(CD247):c.219+16C>A
|
rs12141641
|
0.10900
|
NM_198053.3(CD247):c.249C>T (p.Tyr83=)
|
rs33937946
|
0.07227
|
NM_002185.5(IL7R):c.561G>A (p.Lys187=)
|
rs11567764
|
0.03877
|
NM_002185.5(IL7R):c.538-14A>C
|
rs11567763
|
0.03352
|
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_198053.3(CD247):c.246G>A (p.Glu82=)
|
rs34940956
|
0.01978
|
NM_002838.5(PTPRC):c.3780T>C (p.Asn1260=)
|
rs1058191
|
0.01953
|
NM_002838.5(PTPRC):c.886A>C (p.Ile296Leu)
|
rs2230606
|
0.01793
|
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala)
|
rs4915154
|
0.01733
|
NM_002838.5(PTPRC):c.1829+19T>A
|
rs10919562
|
0.01674
|
NM_002838.5(PTPRC):c.1029G>A (p.Gln343=)
|
rs41314043
|
0.01439
|
NM_000215.4(JAK3):c.1254+20G>A
|
rs3212742
|
0.01436
|
NM_002838.5(PTPRC):c.367G>C (p.Asp123His)
|
rs41269905
|
0.01414
|
NM_000732.6(CD3D):c.406+18G>A
|
rs28606580
|
0.01380
|
NM_002838.5(PTPRC):c.1829+14T>A
|
rs72738067
|
0.01379
|
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln)
|
rs12136658
|
0.01344
|
NM_000215.4(JAK3):c.2259C>T (p.Ala753=)
|
rs35458530
|
0.01034
|
NM_002838.5(PTPRC):c.3072+14T>C
|
rs73087370
|
0.00959
|
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser)
|
rs79141749
|
0.00956
|
NM_000215.4(JAK3):c.2625C>T (p.Leu875=)
|
rs2230589
|
0.00942
|
NM_000215.4(JAK3):c.1786+14A>C
|
rs756976635
|
0.00925
|
NM_000733.4(CD3E):c.104-17C>T
|
rs2231443
|
0.00897
|
NM_000733.4(CD3E):c.507C>T (p.Gly169=)
|
rs2231447
|
0.00816
|
NM_000215.4(JAK3):c.1442-5C>T
|
rs3212750
|
0.00758
|
NM_002838.5(PTPRC):c.1268C>T (p.Thr423Ile)
|
rs6696162
|
0.00748
|
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_198053.3(CD247):c.300+8T>A
|
rs56199250
|
0.00577
|
NM_000215.4(JAK3):c.2806-13C>T
|
rs193156379
|
0.00498
|
NM_002838.5(PTPRC):c.2848-19T>G
|
rs780758960
|
0.00458
|
NM_002185.5(IL7R):c.1241C>T (p.Thr414Met)
|
rs2229232
|
0.00456
|
NM_007074.4(CORO1A):c.1101C>T (p.Thr367=)
|
rs139282852
|
0.00446
|
NM_000733.4(CD3E):c.323C>T (p.Ala108Val)
|
rs35299792
|
0.00427
|
NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala)
|
rs115316501
|
0.00398
|
NM_007074.4(CORO1A):c.804C>T (p.Ser268=)
|
rs149867063
|
0.00385
|
NM_000215.4(JAK3):c.1548C>T (p.Ile516=)
|
rs144203232
|
0.00372
|
NM_002185.5(IL7R):c.132C>T (p.Ser44=)
|
rs11567704
|
0.00357
|
NM_002838.5(PTPRC):c.132A>G (p.Pro44=)
|
rs115797104
|
0.00327
|
NM_007074.4(CORO1A):c.1065+9C>T
|
rs117288362
|
0.00305
|
NM_000733.4(CD3E):c.103C>T (p.Pro35Ser)
|
rs143949187
|
0.00295
|
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His)
|
rs150857828
|
0.00265
|
NM_000733.4(CD3E):c.498G>A (p.Ala166=)
|
rs78373007
|
0.00262
|
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val)
|
rs116464756
|
0.00241
|
NM_002838.5(PTPRC):c.3402C>T (p.Pro1134=)
|
rs61757805
|
0.00238
|
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_007074.4(CORO1A):c.738G>A (p.Gln246=)
|
rs143729497
|
0.00201
|
NM_000206.3(IL2RG):c.858G>A (p.Thr286=)
|
rs148001866
|
0.00189
|
NM_002838.5(PTPRC):c.154A>G (p.Thr52Ala)
|
rs114764326
|
0.00175
|
NM_007074.4(CORO1A):c.861+11C>T
|
rs547256571
|
0.00173
|
NM_002838.5(PTPRC):c.3510-3T>C
|
rs142096878
|
0.00169
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)
|
rs144968714
|
0.00150
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr)
|
rs147153824
|
0.00144
|
NM_007074.4(CORO1A):c.451+8G>A
|
rs112123877
|
0.00131
|
NM_002185.5(IL7R):c.456A>C (p.Thr152=)
|
rs112805866
|
0.00130
|
NM_007074.4(CORO1A):c.861+19G>A
|
rs376463194
|
0.00127
|
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp)
|
rs11567735
|
0.00125
|
NM_000215.4(JAK3):c.1581G>A (p.Leu527=)
|
rs3213408
|
0.00121
|
NM_000733.4(CD3E):c.216T>C (p.Asp72=)
|
rs2231444
|
0.00121
|
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)
|
rs138645044
|
0.00119
|
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val)
|
rs142941257
|
0.00116
|
NM_002838.5(PTPRC):c.1704A>G (p.Leu568=)
|
rs148811970
|
0.00109
|
NM_000215.4(JAK3):c.1995C>T (p.Pro665=)
|
rs3212768
|
0.00108
|
NM_002838.5(PTPRC):c.1297G>A (p.Asp433Asn)
|
rs140403368
|
0.00103
|
NM_002838.5(PTPRC):c.3914G>C (p.Gly1305Ala)
|
rs148331492
|
0.00103
|
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_002838.5(PTPRC):c.1584G>A (p.Leu528=)
|
rs148497366
|
0.00098
|
NM_000215.4(JAK3):c.2079C>T (p.Pro693=)
|
rs145377049
|
0.00096
|
NM_002185.5(IL7R):c.1020T>G (p.Leu340=)
|
rs138731184
|
0.00096
|
NM_002185.5(IL7R):c.1188T>C (p.Asn396=)
|
rs145705481
|
0.00088
|
NM_000215.4(JAK3):c.2636A>G (p.His879Arg)
|
rs3179893
|
0.00086
|
NM_198053.3(CD247):c.430-18G>A
|
rs116757108
|
0.00086
|
NM_002185.5(IL7R):c.509G>A (p.Arg170His)
|
rs149161098
|
0.00085
|
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys)
|
rs141902449
|
0.00084
|
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
|
rs140639753
|
0.00083
|
NM_002185.5(IL7R):c.1200G>A (p.Val400=)
|
rs140634356
|
0.00080
|
NM_002838.5(PTPRC):c.646A>C (p.Thr216Pro)
|
rs148561683
|
0.00076
|
NM_000215.4(JAK3):c.1551T>A (p.Pro517=)
|
rs143936463
|
0.00075
|
NM_000215.4(JAK3):c.1786+6A>T
|
rs372156975
|
0.00074
|
NM_002838.5(PTPRC):c.1441A>G (p.Lys481Glu)
|
rs61749266
|
0.00073
|
NM_000215.4(JAK3):c.2806-20C>G
|
rs199653549
|
0.00069
|
NM_000733.4(CD3E):c.85+16C>T
|
rs200489032
|
0.00068
|
NM_000215.4(JAK3):c.2862C>T (p.Asn954=)
|
rs199553891
|
0.00066
|
NM_002838.5(PTPRC):c.982A>G (p.Ile328Val)
|
rs41314039
|
0.00063
|
NM_000733.4(CD3E):c.567+6G>A
|
rs185185591
|
0.00061
|
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys)
|
rs17875899
|
0.00059
|
NM_000733.4(CD3E):c.408G>A (p.Val136=)
|
rs143868906
|
0.00059
|
NM_002838.5(PTPRC):c.1864+8T>C
|
rs201509539
|
0.00058
|
NM_198053.3(CD247):c.360G>A (p.Ala120=)
|
rs568106106
|
0.00058
|
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_002838.5(PTPRC):c.1193T>C (p.Ile398Thr)
|
rs145357582
|
0.00056
|
NM_002185.5(IL7R):c.239T>C (p.Val80Ala)
|
rs200475138
|
0.00055
|
NM_002838.5(PTPRC):c.3687C>T (p.Tyr1229=)
|
rs145983642
|
0.00051
|
NM_002838.5(PTPRC):c.3073-6A>G
|
rs191867796
|
0.00049
|
NM_002838.5(PTPRC):c.3430G>A (p.Val1144Ile)
|
rs139041596
|
0.00049
|
NM_007074.4(CORO1A):c.346C>T (p.Leu116=)
|
rs138146826
|
0.00048
|
NM_000732.6(CD3D):c.56-17T>C
|
rs202077439
|
0.00047
|
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)
|
rs138482569
|
0.00047
|
NM_002838.5(PTPRC):c.3645+14A>T
|
rs199753199
|
0.00047
|
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=)
|
rs201073968
|
0.00041
|
NM_000733.4(CD3E):c.49+3G>A
|
rs202200315
|
0.00041
|
NM_002838.5(PTPRC):c.995C>T (p.Thr332Ile)
|
rs148025707
|
0.00041
|
NM_002838.5(PTPRC):c.1612G>A (p.Asp538Asn)
|
rs144856406
|
0.00040
|
NM_000206.3(IL2RG):c.282G>A (p.Ser94=)
|
rs142807857
|
0.00039
|
NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro)
|
rs141919625
|
0.00038
|
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln)
|
rs148001159
|
0.00038
|
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_002185.5(IL7R):c.153G>A (p.Ser51=)
|
rs149235072
|
0.00035
|
NM_002838.5(PTPRC):c.260C>T (p.Pro87Leu)
|
rs149798940
|
0.00034
|
NM_002838.5(PTPRC):c.39C>T (p.Gly13=)
|
rs141414674
|
0.00034
|
NM_002838.5(PTPRC):c.2921A>G (p.Asn974Ser)
|
rs115365240
|
0.00032
|
NM_000215.4(JAK3):c.184+17T>C
|
rs200903837
|
0.00031
|
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser)
|
rs148931962
|
0.00031
|
NM_002185.5(IL7R):c.442G>C (p.Val148Leu)
|
rs200332345
|
0.00031
|
NM_002838.5(PTPRC):c.1611C>T (p.Cys537=)
|
rs150704742
|
0.00031
|
NM_002838.5(PTPRC):c.3578A>C (p.Glu1193Ala)
|
rs113148246
|
0.00031
|
NM_198053.3(CD247):c.58+11C>A
|
rs375286157
|
0.00031
|
NM_002838.5(PTPRC):c.1020C>T (p.Tyr340=)
|
rs148321861
|
0.00030
|
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_007074.4(CORO1A):c.322-4G>A
|
rs199732212
|
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_002838.5(PTPRC):c.2625C>T (p.Ala875=)
|
rs138327021
|
0.00026
|
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)
|
rs114970039
|
0.00025
|
NM_007074.4(CORO1A):c.372C>T (p.Val124=)
|
rs149599538
|
0.00025
|
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys)
|
rs200077579
|
0.00024
|
NM_002838.5(PTPRC):c.2490G>C (p.Leu830Phe)
|
rs146402228
|
0.00024
|
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=)
|
rs201734831
|
0.00024
|
NM_198053.3(CD247):c.337-7T>C
|
rs36056000
|
0.00024
|
NM_000206.3(IL2RG):c.78A>T (p.Thr26=)
|
rs147424359
|
0.00023
|
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)
|
rs201084372
|
0.00023
|
NM_002838.5(PTPRC):c.3813C>A (p.Leu1271=)
|
rs142652490
|
0.00023
|
NM_000215.4(JAK3):c.1254+4G>A
|
rs200084748
|
0.00022
|
NM_002838.5(PTPRC):c.2949C>T (p.Asn983=)
|
rs202065527
|
0.00022
|
NM_007074.4(CORO1A):c.792G>A (p.Leu264=)
|
rs139024575
|
0.00022
|
NM_002185.5(IL7R):c.1165G>C (p.Asp389His)
|
rs143596606
|
0.00021
|
NM_002838.5(PTPRC):c.2404-6G>A
|
rs377312849
|
0.00021
|
NM_002838.5(PTPRC):c.3331-20C>G
|
rs369694788
|
0.00021
|
NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
|
rs55729925
|
0.00021
|
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_000733.4(CD3E):c.88G>A (p.Gly30Ser)
|
rs773135734
|
0.00019
|
NM_002185.5(IL7R):c.1003T>C (p.Ser335Pro)
|
rs199735993
|
0.00019
|
NM_002185.5(IL7R):c.419G>A (p.Arg140Gln)
|
rs200373233
|
0.00019
|
NM_002838.5(PTPRC):c.667C>A (p.Pro223Thr)
|
rs199882367
|
0.00019
|
NM_007074.4(CORO1A):c.347T>C (p.Leu116Pro)
|
rs566260573
|
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_002838.5(PTPRC):c.596A>G (p.Asn199Ser)
|
rs369311409
|
0.00018
|
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys)
|
rs145810271
|
0.00017
|
NM_002185.5(IL7R):c.759C>T (p.Val253=)
|
rs201268331
|
0.00017
|
NM_002838.5(PTPRC):c.2848-20G>T
|
rs369232264
|
0.00017
|
NM_198053.3(CD247):c.100C>T (p.Leu34=)
|
rs181342622
|
0.00017
|
NM_000215.4(JAK3):c.1569+14G>A
|
rs200624424
|
0.00016
|
NM_000733.4(CD3E):c.398T>C (p.Ile133Thr)
|
rs200987721
|
0.00016
|
NM_002838.5(PTPRC):c.1379A>G (p.His460Arg)
|
rs150366095
|
0.00016
|
NM_002838.5(PTPRC):c.2545A>G (p.Ile849Val)
|
rs752510149
|
0.00016
|
NM_002838.5(PTPRC):c.347A>C (p.Gln116Pro)
|
rs202180702
|
0.00016
|
NM_198053.3(CD247):c.275G>A (p.Arg92Gln)
|
rs367690333
|
0.00016
|
NM_000206.3(IL2RG):c.618T>A (p.His206Gln)
|
rs761647770
|
0.00015
|
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_002838.5(PTPRC):c.2998G>A (p.Asp1000Asn)
|
rs145944629
|
0.00015
|
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met)
|
rs767758983
|
0.00014
|
NM_000215.4(JAK3):c.183C>T (p.Ser61=)
|
rs200269517
|
0.00014
|
NM_000732.6(CD3D):c.274+4C>T
|
rs201299420
|
0.00014
|
NM_002185.5(IL7R):c.1022G>A (p.Gly341Glu)
|
rs753614229
|
0.00014
|
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro)
|
rs201671392
|
0.00014
|
NM_002838.5(PTPRC):c.1033+9A>G
|
rs376985465
|
0.00014
|
NM_002838.5(PTPRC):c.1975-14G>A
|
rs371684518
|
0.00014
|
NM_007074.4(CORO1A):c.1074G>C (p.Leu358=)
|
rs376540649
|
0.00014
|
NM_007074.4(CORO1A):c.862-13C>G
|
rs745611340
|
0.00014
|
NM_000215.4(JAK3):c.1142C>A (p.Thr381Asn)
|
rs373046546
|
0.00013
|
NM_000732.6(CD3D):c.450+6C>T
|
rs193922617
|
0.00013
|
NM_198053.3(CD247):c.397C>T (p.Arg133Trp)
|
rs751981677
|
0.00013
|
NM_000206.3(IL2RG):c.269+14C>T
|
rs7879765
|
0.00012
|
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)
|
rs571404212
|
0.00012
|
NM_000732.6(CD3D):c.55+5G>A
|
rs138416327
|
0.00012
|
NM_000733.4(CD3E):c.202G>A (p.Gly68Ser)
|
rs200087808
|
0.00012
|
NM_000733.4(CD3E):c.387G>A (p.Ser129=)
|
rs200193595
|
0.00012
|
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn)
|
rs150051812
|
0.00012
|
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr)
|
rs137868226
|
0.00012
|
NM_002838.5(PTPRC):c.3509+5G>A
|
rs377707736
|
0.00012
|
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=)
|
rs376679881
|
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_000733.4(CD3E):c.580G>A (p.Gly194Ser)
|
rs141553540
|
0.00011
|
NM_002185.5(IL7R):c.765G>A (p.Leu255=)
|
rs143438470
|
0.00011
|
NM_002838.5(PTPRC):c.1321C>T (p.Leu441=)
|
rs375608198
|
0.00011
|
NM_002838.5(PTPRC):c.2561+18A>C
|
rs756608809
|
0.00011
|
NM_002838.5(PTPRC):c.299-14C>T
|
rs369917405
|
0.00011
|
NM_002838.5(PTPRC):c.3708A>G (p.Val1236=)
|
rs372733223
|
0.00011
|
NM_002838.5(PTPRC):c.837G>A (p.Ala279=)
|
rs137909392
|
0.00011
|
NM_198053.3(CD247):c.167G>T (p.Ser56Ile)
|
rs372651048
|
0.00011
|
NM_198053.3(CD247):c.430-6C>T
|
rs200103990
|
0.00011
|
NM_000206.3(IL2RG):c.912C>T (p.His304=)
|
rs145282692
|
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_000733.4(CD3E):c.353-18C>T
|
rs201572053
|
0.00010
|
NM_002838.5(PTPRC):c.1171+19T>G
|
rs201177846
|
0.00010
|
NM_002838.5(PTPRC):c.421G>C (p.Gly141Arg)
|
rs200531350
|
0.00010
|
NM_007074.4(CORO1A):c.1252G>A (p.Ala418Thr)
|
rs757620393
|
0.00010
|
NM_007074.4(CORO1A):c.649C>A (p.Pro217Thr)
|
rs141827038
|
0.00010
|
NM_198053.3(CD247):c.336+20C>T
|
rs377122263
|
0.00010
|
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)
|
rs140216601
|
0.00009
|
NM_000206.3(IL2RG):c.459C>T (p.Ile153=)
|
rs150560580
|
0.00009
|
NM_000206.3(IL2RG):c.51C>T (p.Pro17=)
|
rs773483114
|
0.00009
|
NM_000206.3(IL2RG):c.855-8C>T
|
rs372985214
|
0.00009
|
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met)
|
rs375921454
|
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_000733.4(CD3E):c.462T>C (p.Asn154=)
|
rs372144734
|
0.00009
|
NM_002185.5(IL7R):c.221+10G>A
|
rs376663189
|
0.00009
|
NM_002838.5(PTPRC):c.2208C>G (p.Phe736Leu)
|
rs139089055
|
0.00009
|
NM_002838.5(PTPRC):c.2592C>T (p.Ile864=)
|
rs780489279
|
0.00009
|
NM_002838.5(PTPRC):c.3073-13T>C
|
rs760582107
|
0.00009
|
NM_002838.5(PTPRC):c.3509+4C>T
|
rs574020110
|
0.00009
|
NM_002838.5(PTPRC):c.3645+7A>G
|
rs374740399
|
0.00009
|
NM_002838.5(PTPRC):c.3816T>A (p.Pro1272=)
|
rs375180767
|
0.00009
|
NM_007074.4(CORO1A):c.1251A>C (p.Ala417=)
|
rs754103097
|
0.00009
|
NM_007074.4(CORO1A):c.837C>T (p.Thr279=)
|
rs113875403
|
0.00009
|
NM_007074.4(CORO1A):c.897C>T (p.Ser299=)
|
rs535362943
|
0.00009
|
NM_198053.3(CD247):c.337-15C>T
|
rs150725547
|
0.00009
|
NM_198053.3(CD247):c.444C>T (p.Ala148=)
|
rs773084349
|
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_000732.6(CD3D):c.342C>T (p.Ala114=)
|
rs201721807
|
0.00008
|
NM_000732.6(CD3D):c.510C>T (p.Asn170=)
|
rs146997233
|
0.00008
|
NM_000733.4(CD3E):c.27T>G (p.Val9=)
|
rs200915775
|
0.00008
|
NM_002838.5(PTPRC):c.1619G>A (p.Arg540His)
|
rs140422357
|
0.00008
|
NM_002838.5(PTPRC):c.2335G>A (p.Val779Ile)
|
rs146726593
|
0.00008
|
NM_002838.5(PTPRC):c.2823G>A (p.Pro941=)
|
rs144027458
|
0.00008
|
NM_002838.5(PTPRC):c.3404A>C (p.Lys1135Thr)
|
rs369268728
|
0.00008
|
NM_007074.4(CORO1A):c.198+17C>T
|
rs772480582
|
0.00008
|
NM_007074.4(CORO1A):c.369C>T (p.Pro123=)
|
rs200437355
|
0.00008
|
NM_007074.4(CORO1A):c.720C>T (p.Ser240=)
|
rs749622934
|
0.00008
|
NM_198053.3(CD247):c.148T>C (p.Phe50Leu)
|
rs147458563
|
0.00008
|
NM_198053.3(CD247):c.251A>G (p.Asp84Gly)
|
rs181746205
|
0.00008
|
NM_198053.3(CD247):c.310A>G (p.Lys104Glu)
|
rs145505909
|
0.00008
|
NM_198053.3(CD247):c.462C>T (p.Asp154=)
|
rs181656780
|
0.00008
|
NM_000206.3(IL2RG):c.438A>G (p.Leu146=)
|
rs764216497
|
0.00007
|
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp)
|
rs200239526
|
0.00007
|
NM_000206.3(IL2RG):c.92A>G (p.Asn31Ser)
|
rs749977756
|
0.00007
|
NM_000215.4(JAK3):c.2681-11G>T
|
rs201970522
|
0.00007
|
NM_000732.6(CD3D):c.114T>A (p.Asn38Lys)
|
rs193284900
|
0.00007
|
NM_000732.6(CD3D):c.152T>C (p.Leu51Pro)
|
rs200037447
|
0.00007
|
NM_000732.6(CD3D):c.30G>T (p.Leu10=)
|
rs202080099
|
0.00007
|
NM_000732.6(CD3D):c.418C>A (p.Gln140Lys)
|
rs201126605
|
0.00007
|
NM_000733.4(CD3E):c.103+10T>C
|
rs143015515
|
0.00007
|
NM_000733.4(CD3E):c.448T>C (p.Tyr150His)
|
rs146881885
|
0.00007
|
NM_002185.5(IL7R):c.104T>A (p.Leu35Gln)
|
rs35967524
|
0.00007
|
NM_002185.5(IL7R):c.460C>T (p.His154Tyr)
|
rs199727195
|
0.00007
|
NM_002838.5(PTPRC):c.1034-20G>A
|
rs376142135
|
0.00007
|
NM_002838.5(PTPRC):c.1116C>G (p.Leu372=)
|
rs747910304
|
0.00007
|
NM_002838.5(PTPRC):c.2404-13A>G
|
rs781530913
|
0.00007
|
NM_002838.5(PTPRC):c.3126C>G (p.Thr1042=)
|
rs375079291
|
0.00007
|
NM_002838.5(PTPRC):c.985G>A (p.Glu329Lys)
|
rs2274367
|
0.00007
|
NM_198053.3(CD247):c.337-14G>A
|
rs375668936
|
0.00007
|
NM_000206.3(IL2RG):c.504C>T (p.Ser168=)
|
rs752921124
|
0.00006
|
NM_000206.3(IL2RG):c.659C>T (p.Thr220Met)
|
rs374102717
|
0.00006
|
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu)
|
rs765748584
|
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_000732.6(CD3D):c.202C>A (p.Arg68=)
|
rs111033580
|
0.00006
|
NM_000732.6(CD3D):c.360G>A (p.Leu120=)
|
rs150570955
|
0.00006
|
NM_000732.6(CD3D):c.505C>T (p.Arg169Trp)
|
rs367800432
|
0.00006
|
NM_000732.6(CD3D):c.55+12C>A
|
rs1379953201
|
0.00006
|
NM_000733.4(CD3E):c.441G>A (p.Leu147=)
|
rs528492194
|
0.00006
|
NM_000733.4(CD3E):c.500G>T (p.Gly167Val)
|
rs745493004
|
0.00006
|
NM_000733.4(CD3E):c.568-10T>G
|
rs773328619
|
0.00006
|
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly)
|
rs770237630
|
0.00006
|
NM_002185.5(IL7R):c.373A>G (p.Thr125Ala)
|
rs145407742
|
0.00006
|
NM_002185.5(IL7R):c.508C>T (p.Arg170Cys)
|
rs145210284
|
0.00006
|
NM_002185.5(IL7R):c.772A>T (p.Ile258Phe)
|
rs200150755
|
0.00006
|
NM_002838.5(PTPRC):c.196G>A (p.Glu66Lys)
|
rs776696394
|
0.00006
|
NM_002838.5(PTPRC):c.2142+11A>C
|
rs375741912
|
0.00006
|
NM_002838.5(PTPRC):c.856A>G (p.Asn286Asp)
|
rs199673441
|
0.00006
|
NM_007074.4(CORO1A):c.199-16C>G
|
rs200317965
|
0.00006
|
NM_007074.4(CORO1A):c.285C>T (p.Asn95=)
|
rs184262856
|
0.00006
|
NM_007074.4(CORO1A):c.637G>A (p.Glu213Lys)
|
rs1305051349
|
0.00006
|
NM_007074.4(CORO1A):c.996T>C (p.Cys332=)
|
rs199960741
|
0.00006
|
NM_198053.3(CD247):c.220-20C>T
|
rs184666213
|
0.00006
|
NM_000206.3(IL2RG):c.130A>G (p.Thr44Ala)
|
rs7885041
|
0.00005
|
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr)
|
rs778229878
|
0.00005
|
NM_000206.3(IL2RG):c.74C>T (p.Thr25Met)
|
rs751455361
|
0.00005
|
NM_000206.3(IL2RG):c.761A>T (p.Asn254Ile)
|
rs368726465
|
0.00005
|
NM_000206.3(IL2RG):c.786C>T (p.Ala262=)
|
rs374370835
|
0.00005
|
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_000732.6(CD3D):c.275-18T>C
|
rs200238286
|
0.00005
|
NM_002185.5(IL7R):c.1071T>C (p.Thr357=)
|
rs142726694
|
0.00005
|
NM_002185.5(IL7R):c.283G>A (p.Glu95Lys)
|
rs191585195
|
0.00005
|
NM_002185.5(IL7R):c.539A>C (p.His180Pro)
|
rs193922642
|
0.00005
|
NM_002185.5(IL7R):c.617G>A (p.Arg206Gln)
|
rs193922644
|
0.00005
|
NM_002838.5(PTPRC):c.1089T>G (p.His363Gln)
|
rs1289810255
|
0.00005
|
NM_002838.5(PTPRC):c.2561+16A>C
|
rs749945370
|
0.00005
|
NM_002838.5(PTPRC):c.2779C>G (p.Pro927Ala)
|
rs376357337
|
0.00005
|
NM_002838.5(PTPRC):c.3216T>C (p.Cys1072=)
|
rs775397726
|
0.00005
|
NM_002838.5(PTPRC):c.3896G>A (p.Ser1299Asn)
|
rs977524211
|
0.00005
|
NM_002838.5(PTPRC):c.649A>G (p.Thr217Ala)
|
rs146065363
|
0.00005
|
NM_007074.4(CORO1A):c.1065+8T>A
|
rs376878354
|
0.00005
|
NM_007074.4(CORO1A):c.1222C>T (p.Arg408Trp)
|
rs373093101
|
0.00005
|
NM_007074.4(CORO1A):c.520G>A (p.Val174Met)
|
rs769707848
|
0.00005
|
NM_007074.4(CORO1A):c.580T>A (p.Ser194Thr)
|
rs765799047
|
0.00005
|
NM_198053.3(CD247):c.220-3T>C
|
rs369712780
|
0.00005
|
NM_198053.3(CD247):c.58+12G>A
|
rs776195661
|
0.00005
|
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)
|
rs374270413
|
0.00004
|
NM_000206.3(IL2RG):c.269+17G>A
|
rs746420476
|
0.00004
|
NM_000206.3(IL2RG):c.607G>A (p.Asp203Asn)
|
rs987981899
|
0.00004
|
NM_000206.3(IL2RG):c.653G>A (p.Arg218His)
|
rs763721645
|
0.00004
|
NM_000206.3(IL2RG):c.758-16T>C
|
rs748876814
|
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_000732.6(CD3D):c.235_237del (p.Tyr79del)
|
rs763077739
|
0.00004
|
NM_000732.6(CD3D):c.416C>T (p.Thr139Ile)
|
rs527584796
|
0.00004
|
NM_000733.4(CD3E):c.230G>A (p.Ser77Asn)
|
rs202007244
|
0.00004
|
NM_000733.4(CD3E):c.520+5G>A
|
rs765464852
|
0.00004
|
NM_000733.4(CD3E):c.567+10G>T
|
rs920180688
|
0.00004
|
NM_000733.4(CD3E):c.575G>A (p.Arg192Gln)
|
rs202052957
|
0.00004
|
NM_000733.4(CD3E):c.71-15C>T
|
rs749389422
|
0.00004
|
NM_002185.5(IL7R):c.1048C>T (p.Pro350Ser)
|
rs111803690
|
0.00004
|
NM_002185.5(IL7R):c.1063G>A (p.Val355Ile)
|
rs749870381
|
0.00004
|
NM_002185.5(IL7R):c.1266A>G (p.Gln422=)
|
rs201755068
|
0.00004
|
NM_002185.5(IL7R):c.232G>A (p.Val78Met)
|
rs200687605
|
0.00004
|
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)
|
rs193922641
|
0.00004
|
NM_002185.5(IL7R):c.379+8G>A
|
rs111370546
|
0.00004
|
NM_002185.5(IL7R):c.440T>C (p.Val147Ala)
|
rs765765854
|
0.00004
|
NM_002185.5(IL7R):c.537G>A (p.Thr179=)
|
rs758320927
|
0.00004
|
NM_002185.5(IL7R):c.540T>C (p.His180=)
|
rs201040470
|
0.00004
|
NM_002185.5(IL7R):c.800+10T>C
|
rs202114203
|
0.00004
|
NM_002185.5(IL7R):c.908T>C (p.Phe303Ser)
|
rs200107390
|
0.00004
|
NM_002838.5(PTPRC):c.1191T>C (p.Ile397=)
|
rs769099460
|
0.00004
|
NM_002838.5(PTPRC):c.1365T>C (p.Tyr455=)
|
rs769929233
|
0.00004
|
NM_002838.5(PTPRC):c.1458C>G (p.Ser486Arg)
|
rs200407298
|
0.00004
|
NM_002838.5(PTPRC):c.1599G>A (p.Ser533=)
|
rs372045826
|
0.00004
|
NM_002838.5(PTPRC):c.1642A>G (p.Thr548Ala)
|
rs145467564
|
0.00004
|
NM_002838.5(PTPRC):c.1721A>G (p.Tyr574Cys)
|
rs376098272
|
0.00004
|
NM_002838.5(PTPRC):c.1808A>G (p.Asp603Gly)
|
rs754699279
|
0.00004
|
NM_002838.5(PTPRC):c.2320C>T (p.Arg774Trp)
|
rs200672643
|
0.00004
|
NM_002838.5(PTPRC):c.261G>A (p.Pro87=)
|
rs780344153
|
0.00004
|
NM_002838.5(PTPRC):c.2777A>C (p.His926Pro)
|
rs955941415
|
0.00004
|
NM_002838.5(PTPRC):c.3072+7A>T
|
rs753557768
|
0.00004
|
NM_002838.5(PTPRC):c.3331-17T>G
|
rs549710545
|
0.00004
|
NM_002838.5(PTPRC):c.339A>G (p.Ala113=)
|
rs1225876119
|
0.00004
|
NM_002838.5(PTPRC):c.3567G>A (p.Ala1189=)
|
rs527663021
|
0.00004
|
NM_002838.5(PTPRC):c.3853A>C (p.Ser1285Arg)
|
rs2298872
|
0.00004
|
NM_002838.5(PTPRC):c.439+8G>A
|
rs1313994959
|
0.00004
|
NM_002838.5(PTPRC):c.446C>T (p.Pro149Leu)
|
rs560558320
|
0.00004
|
NM_002838.5(PTPRC):c.547C>T (p.Arg183Cys)
|
rs561155698
|
0.00004
|
NM_002838.5(PTPRC):c.548G>A (p.Arg183His)
|
rs138554556
|
0.00004
|
NM_002838.5(PTPRC):c.622C>T (p.Pro208Ser)
|
rs762236684
|
0.00004
|
NM_002838.5(PTPRC):c.700A>G (p.Asn234Asp)
|
rs535416574
|
0.00004
|
NM_007074.4(CORO1A):c.1007+13C>T
|
rs201613058
|
0.00004
|
NM_007074.4(CORO1A):c.1066-10T>A
|
rs376818272
|
0.00004
|
NM_007074.4(CORO1A):c.1066-7C>T
|
rs767306235
|
0.00004
|
NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg)
|
rs751313483
|
0.00004
|
NM_007074.4(CORO1A):c.452-7C>T
|
rs368186458
|
0.00004
|
NM_007074.4(CORO1A):c.557G>A (p.Arg186Gln)
|
rs148312916
|
0.00004
|
NM_007074.4(CORO1A):c.595C>T (p.Arg199Cys)
|
rs763170903
|
0.00004
|
NM_007074.4(CORO1A):c.840C>T (p.Asn280=)
|
rs775074204
|
0.00004
|
NM_198053.3(CD247):c.155G>A (p.Arg52Lys)
|
rs368651001
|
0.00004
|
NM_198053.3(CD247):c.274C>T (p.Arg92Trp)
|
rs144963570
|
0.00004
|
NM_198053.3(CD247):c.288G>T (p.Met96Ile)
|
rs139926301
|
0.00004
|
NM_198053.3(CD247):c.300G>A (p.Pro100=)
|
rs541120315
|
0.00004
|
NM_198053.3(CD247):c.429+12C>T
|
rs201171777
|
0.00004
|
NM_198053.3(CD247):c.491G>A (p.Arg164His)
|
rs201937405
|
0.00004
|
NM_198053.3(CD247):c.58+17G>A
|
rs371314747
|
0.00004
|
NM_000206.3(IL2RG):c.1077C>A (p.Ala359=)
|
rs772150263
|
0.00003
|
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu)
|
rs775704953
|
0.00003
|
NM_000206.3(IL2RG):c.339T>C (p.Ser113=)
|
rs941308764
|
0.00003
|
NM_000206.3(IL2RG):c.396C>T (p.Leu132=)
|
rs201840981
|
0.00003
|
NM_000206.3(IL2RG):c.511G>C (p.Glu171Gln)
|
rs763359860
|
0.00003
|
NM_000206.3(IL2RG):c.514C>A (p.Leu172Met)
|
rs141707292
|
0.00003
|
NM_000206.3(IL2RG):c.69G>A (p.Leu23=)
|
rs748252421
|
0.00003
|
NM_000206.3(IL2RG):c.708T>C (p.His236=)
|
rs750844357
|
0.00003
|
NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr)
|
rs370677485
|
0.00003
|
NM_000206.3(IL2RG):c.822C>T (p.Ile274=)
|
rs768058067
|
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_000732.6(CD3D):c.274+8C>T
|
rs1209300043
|
0.00003
|
NM_000732.6(CD3D):c.275-5C>T
|
rs188697778
|
0.00003
|
NM_000732.6(CD3D):c.386A>G (p.Glu129Gly)
|
rs200132045
|
0.00003
|
NM_000733.4(CD3E):c.255G>T (p.Lys85Asn)
|
rs201263095
|
0.00003
|
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr)
|
rs200258299
|
0.00003
|
NM_000733.4(CD3E):c.499G>A (p.Gly167Ser)
|
rs368489854
|
0.00003
|
NM_000733.4(CD3E):c.70+7T>C
|
rs1344530532
|
0.00003
|
NM_002185.5(IL7R):c.1135G>A (p.Ala379Thr)
|
rs200570812
|
0.00003
|
NM_002185.5(IL7R):c.221+12T>C
|
rs202090343
|
0.00003
|
NM_002185.5(IL7R):c.2T>G (p.Met1Arg)
|
rs200076125
|
0.00003
|
NM_002185.5(IL7R):c.340A>G (p.Lys114Glu)
|
rs771667604
|
0.00003
|
NM_002185.5(IL7R):c.538C>T (p.His180Tyr)
|
rs780435478
|
0.00003
|
NM_002185.5(IL7R):c.706+3A>G
|
rs200036151
|
0.00003
|
NM_002185.5(IL7R):c.800+13A>G
|
rs568980414
|
0.00003
|
NM_002185.5(IL7R):c.81T>A (p.Asn27Lys)
|
rs753451294
|
0.00003
|
NM_002185.5(IL7R):c.952G>A (p.Asp318Asn)
|
rs200521932
|
0.00003
|
NM_002838.5(PTPRC):c.1189A>T (p.Ile397Phe)
|
rs775095087
|
0.00003
|
NM_002838.5(PTPRC):c.1391T>C (p.Ile464Thr)
|
rs899389630
|
0.00003
|
NM_002838.5(PTPRC):c.1450C>T (p.Pro484Ser)
|
rs762144487
|
0.00003
|
NM_002838.5(PTPRC):c.1477G>A (p.Val493Ile)
|
rs545961977
|
0.00003
|
NM_002838.5(PTPRC):c.1678G>A (p.Asp560Asn)
|
rs760244730
|
0.00003
|
NM_002838.5(PTPRC):c.1705C>T (p.His569Tyr)
|
rs141099643
|
0.00003
|
NM_002838.5(PTPRC):c.1737G>T (p.Leu579=)
|
rs112713919
|
0.00003
|
NM_002838.5(PTPRC):c.1818G>A (p.Lys606=)
|
rs575318196
|
0.00003
|
NM_002838.5(PTPRC):c.1830-5C>T
|
rs753737525
|
0.00003
|
NM_002838.5(PTPRC):c.1963G>C (p.Ala655Pro)
|
rs868698846
|
0.00003
|
NM_002838.5(PTPRC):c.2088C>G (p.Leu696=)
|
rs555648295
|
0.00003
|
NM_002838.5(PTPRC):c.2793C>A (p.Asn931Lys)
|
rs149625776
|
0.00003
|
NM_002838.5(PTPRC):c.298+20T>A
|
rs751118729
|
0.00003
|
NM_002838.5(PTPRC):c.2999A>T (p.Asp1000Val)
|
rs1485162890
|
0.00003
|
NM_002838.5(PTPRC):c.3125C>A (p.Thr1042Asn)
|
rs200078132
|
0.00003
|
NM_002838.5(PTPRC):c.3208-8T>C
|
rs201210714
|
0.00003
|
NM_002838.5(PTPRC):c.3651A>G (p.Gln1217=)
|
rs767504537
|
0.00003
|
NM_002838.5(PTPRC):c.3686A>G (p.Tyr1229Cys)
|
rs747330174
|
0.00003
|
NM_002838.5(PTPRC):c.377C>T (p.Thr126Ile)
|
rs753127621
|
0.00003
|
NM_002838.5(PTPRC):c.413C>T (p.Pro138Leu)
|
rs752408704
|
0.00003
|
NM_002838.5(PTPRC):c.572C>T (p.Ala191Val)
|
rs1276140091
|
0.00003
|
NM_002838.5(PTPRC):c.583+9A>T
|
rs775041537
|
0.00003
|
NM_002838.5(PTPRC):c.965G>C (p.Cys322Ser)
|
rs368910528
|
0.00003
|
NM_007074.4(CORO1A):c.451+7C>T
|
rs761205413
|
0.00003
|
NM_007074.4(CORO1A):c.462C>T (p.Asn154=)
|
rs762370414
|
0.00003
|
NM_007074.4(CORO1A):c.500T>C (p.Met167Thr)
|
rs527428900
|
0.00003
|
NM_007074.4(CORO1A):c.596G>A (p.Arg199His)
|
rs548533633
|
0.00003
|
NM_007074.4(CORO1A):c.757-10G>C
|
rs367708753
|
0.00003
|
NM_007074.4(CORO1A):c.844G>C (p.Val282Leu)
|
rs763606361
|
0.00003
|
NM_007074.4(CORO1A):c.861+16G>A
|
rs752677244
|
0.00003
|
NM_198053.3(CD247):c.177A>G (p.Ala59=)
|
rs373031213
|
0.00003
|
NM_198053.3(CD247):c.398G>A (p.Arg133Gln)
|
rs147527561
|
0.00003
|
NM_198053.3(CD247):c.411G>C (p.Gly137=)
|
rs148298128
|
0.00003
|
NM_198053.3(CD247):c.463G>A (p.Ala155Thr)
|
rs561262982
|
0.00003
|
NM_198053.3(CD247):c.486C>T (p.Pro162=)
|
rs190037664
|
0.00003
|
NM_198053.3(CD247):c.58+8C>T
|
rs201494226
|
0.00003
|
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)
|
rs771221019
|
0.00002
|
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)
|
rs767383120
|
0.00002
|
NM_000206.3(IL2RG):c.116-5T>G
|
rs754256514
|
0.00002
|
NM_000206.3(IL2RG):c.174A>G (p.Pro58=)
|
rs375735883
|
0.00002
|
NM_000206.3(IL2RG):c.201C>T (p.Val67=)
|
rs756100347
|
0.00002
|
NM_000206.3(IL2RG):c.226A>G (p.Ser76Gly)
|
rs745652226
|
0.00002
|
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)
|
rs776710796
|
0.00002
|
NM_000206.3(IL2RG):c.294A>G (p.Lys98=)
|
rs2092261604
|
0.00002
|
NM_000206.3(IL2RG):c.327A>G (p.Glu109=)
|
rs772713987
|
0.00002
|
NM_000206.3(IL2RG):c.407G>A (p.Arg136Gln)
|
rs753502444
|
0.00002
|
NM_000206.3(IL2RG):c.454+5T>C
|
rs758702784
|
0.00002
|
NM_000206.3(IL2RG):c.455-10A>G
|
rs748820536
|
0.00002
|
NM_000206.3(IL2RG):c.455-8A>G
|
rs781649645
|
0.00002
|
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg)
|
rs758693125
|
0.00002
|
NM_000206.3(IL2RG):c.75G>A (p.Thr25=)
|
rs754951792
|
0.00002
|
NM_000206.3(IL2RG):c.855-16C>T
|
rs752525322
|
0.00002
|
NM_000206.3(IL2RG):c.855-9C>T
|
rs764935731
|
0.00002
|
NM_000206.3(IL2RG):c.866G>A (p.Arg289Gln)
|
rs774953764
|
0.00002
|
NM_000206.3(IL2RG):c.87G>A (p.Thr29=)
|
rs779772745
|
0.00002
|
NM_000206.3(IL2RG):c.925-4T>C
|
rs758393948
|
0.00002
|
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val)
|
rs370007902
|
0.00002
|
NM_000206.3(IL2RG):c.963G>A (p.Leu321=)
|
rs181901993
|
0.00002
|
NM_000206.3(IL2RG):c.967C>G (p.Pro323Ala)
|
rs974329997
|
0.00002
|
NM_000206.3(IL2RG):c.975C>T (p.Tyr325=)
|
rs755664130
|
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.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_000732.6(CD3D):c.187C>T (p.Arg63Cys)
|
rs149264725
|
0.00002
|
NM_000732.6(CD3D):c.262G>A (p.Val88Ile)
|
rs200260087
|
0.00002
|
NM_000732.6(CD3D):c.411C>T (p.Ala137=)
|
rs200520638
|
0.00002
|
NM_000732.6(CD3D):c.67A>C (p.Lys23Gln)
|
rs199969175
|
0.00002
|
NM_000733.4(CD3E):c.116C>A (p.Ser39Tyr)
|
rs369130631
|
0.00002
|
NM_000733.4(CD3E):c.617G>A (p.Arg206His)
|
rs200083794
|
0.00002
|
NM_000733.4(CD3E):c.85+17T>C
|
rs201478021
|
0.00002
|
NM_002185.5(IL7R):c.1074A>G (p.Pro358=)
|
rs996923512
|
0.00002
|
NM_002185.5(IL7R):c.111C>T (p.Asp37=)
|
rs763937095
|
0.00002
|
NM_002185.5(IL7R):c.178G>A (p.Glu60Lys)
|
rs772586152
|
0.00002
|
NM_002185.5(IL7R):c.221+2T>G
|
rs200044623
|
0.00002
|
NM_002185.5(IL7R):c.496G>A (p.Asp166Asn)
|
rs776941426
|
0.00002
|
NM_002185.5(IL7R):c.537+12A>T
|
rs201980969
|
0.00002
|
NM_002185.5(IL7R):c.537+4T>C
|
rs200625485
|
0.00002
|
NM_002185.5(IL7R):c.538-1G>A
|
rs1315265916
|
0.00002
|
NM_002185.5(IL7R):c.552C>T (p.Ser184=)
|
rs748733640
|
0.00002
|
NM_002185.5(IL7R):c.653G>A (p.Ser218Asn)
|
rs374232919
|
0.00002
|
NM_002185.5(IL7R):c.695A>G (p.Asn232Ser)
|
rs199714011
|
0.00002
|
NM_002185.5(IL7R):c.706+12T>G
|
rs1174138644
|
0.00002
|
NM_002185.5(IL7R):c.744G>C (p.Leu248Phe)
|
rs200086692
|
0.00002
|
NM_002185.5(IL7R):c.919C>A (p.Gln307Lys)
|
rs751073911
|
0.00002
|
NM_002185.5(IL7R):c.990G>A (p.Gln330=)
|
rs201093124
|
0.00002
|
NM_002838.5(PTPRC):c.1084G>A (p.Glu362Lys)
|
rs917430300
|
0.00002
|
NM_002838.5(PTPRC):c.1140C>T (p.Asn380=)
|
rs200643724
|
0.00002
|
NM_002838.5(PTPRC):c.1172-13A>T
|
rs769485758
|
0.00002
|
NM_002838.5(PTPRC):c.1197T>C (p.Phe399=)
|
rs762282903
|
0.00002
|
NM_002838.5(PTPRC):c.1308T>C (p.Asn436=)
|
rs779279106
|
0.00002
|
NM_002838.5(PTPRC):c.1532G>A (p.Arg511His)
|
rs770812820
|
0.00002
|
NM_002838.5(PTPRC):c.1840G>A (p.Glu614Lys)
|
rs754933499
|
0.00002
|
NM_002838.5(PTPRC):c.2078G>A (p.Arg693His)
|
rs781335157
|
0.00002
|
NM_002838.5(PTPRC):c.2132G>A (p.Ser711Asn)
|
rs766053951
|
0.00002
|
NM_002838.5(PTPRC):c.2244T>C (p.Ile748=)
|
rs774881107
|
0.00002
|
NM_002838.5(PTPRC):c.2278-9A>G
|
rs773828467
|
0.00002
|
NM_002838.5(PTPRC):c.2283G>A (p.Lys761=)
|
rs761064149
|
0.00002
|
NM_002838.5(PTPRC):c.2395A>T (p.Ile799Phe)
|
rs185420520
|
0.00002
|
NM_002838.5(PTPRC):c.248C>T (p.Thr83Ile)
|
rs375051221
|
0.00002
|
NM_002838.5(PTPRC):c.24A>G (p.Lys8=)
|
rs766720230
|
0.00002
|
NM_002838.5(PTPRC):c.2543C>T (p.Pro848Leu)
|
rs765136427
|
0.00002
|
NM_002838.5(PTPRC):c.2547T>C (p.Ile849=)
|
rs1490479102
|
0.00002
|
NM_002838.5(PTPRC):c.2607G>A (p.Met869Ile)
|
rs770932386
|
0.00002
|
NM_002838.5(PTPRC):c.2628G>A (p.Glu876=)
|
rs531164121
|
0.00002
|
NM_002838.5(PTPRC):c.2718T>C (p.His906=)
|
rs1278967552
|
0.00002
|
NM_002838.5(PTPRC):c.274A>G (p.Asn92Asp)
|
rs61757804
|
0.00002
|
NM_002838.5(PTPRC):c.2783A>G (p.Tyr928Cys)
|
rs776327098
|
0.00002
|
NM_002838.5(PTPRC):c.2848-20del
|
rs1397398120
|
0.00002
|
NM_002838.5(PTPRC):c.2862T>C (p.Tyr954=)
|
rs1390486466
|
0.00002
|
NM_002838.5(PTPRC):c.2958A>G (p.Pro986=)
|
rs776926492
|
0.00002
|
NM_002838.5(PTPRC):c.3344G>A (p.Arg1115Gln)
|
rs755012251
|
0.00002
|
NM_002838.5(PTPRC):c.337G>T (p.Ala113Ser)
|
rs201751375
|
0.00002
|
NM_002838.5(PTPRC):c.3570A>C (p.Glu1190Asp)
|
rs115935364
|
0.00002
|
NM_002838.5(PTPRC):c.3721C>T (p.His1241Tyr)
|
rs773038500
|
0.00002
|
NM_002838.5(PTPRC):c.3772G>A (p.Asp1258Asn)
|
rs757598062
|
0.00002
|
NM_002838.5(PTPRC):c.3815C>G (p.Pro1272Arg)
|
rs969670354
|
0.00002
|
NM_002838.5(PTPRC):c.3844G>C (p.Glu1282Gln)
|
rs200950466
|
0.00002
|
NM_002838.5(PTPRC):c.545C>A (p.Ala182Glu)
|
rs527641821
|
0.00002
|
NM_002838.5(PTPRC):c.57A>C (p.Thr19=)
|
rs199852332
|
0.00002
|
NM_002838.5(PTPRC):c.583+1G>A
|
rs137869655
|
0.00002
|
NM_002838.5(PTPRC):c.659-20A>T
|
rs768853912
|
0.00002
|
NM_002838.5(PTPRC):c.828T>C (p.Cys276=)
|
rs141245419
|
0.00002
|
NM_007074.4(CORO1A):c.1032G>A (p.Arg344=)
|
rs199896375
|
0.00002
|
NM_007074.4(CORO1A):c.1141G>A (p.Gly381Arg)
|
rs775671937
|
0.00002
|
NM_007074.4(CORO1A):c.1214G>T (p.Arg405Met)
|
rs369828613
|
0.00002
|
NM_007074.4(CORO1A):c.1280C>T (p.Ser427Leu)
|
rs781058961
|
0.00002
|
NM_007074.4(CORO1A):c.199-12C>T
|
rs1194635759
|
0.00002
|
NM_007074.4(CORO1A):c.452-6G>A
|
rs754372756
|
0.00002
|
NM_007074.4(CORO1A):c.54G>C (p.Pro18=)
|
rs61736363
|
0.00002
|
NM_007074.4(CORO1A):c.636+8G>A
|
rs375950115
|
0.00002
|
NM_007074.4(CORO1A):c.670G>A (p.Val224Met)
|
rs763891563
|
0.00002
|
NM_007074.4(CORO1A):c.774G>A (p.Pro258=)
|
rs187747730
|
0.00002
|
NM_007074.4(CORO1A):c.87C>T (p.Arg29=)
|
rs772565520
|
0.00002
|
NM_198053.3(CD247):c.250G>C (p.Asp84His)
|
rs753572867
|
0.00002
|
NM_198053.3(CD247):c.253G>A (p.Val85Ile)
|
rs371709798
|
0.00002
|
NM_198053.3(CD247):c.28G>T (p.Ala10Ser)
|
rs753889129
|
0.00002
|
NM_198053.3(CD247):c.394C>T (p.Arg132Cys)
|
rs781510519
|
0.00002
|
NM_198053.3(CD247):c.414C>T (p.His138=)
|
rs184894260
|
0.00002
|
NM_198053.3(CD247):c.427C>T (p.Gln143Ter)
|
rs759213998
|
0.00002
|
NM_198053.3(CD247):c.430-5G>A
|
rs767214938
|
0.00002
|
NM_198053.3(CD247):c.58+9G>A
|
rs774727014
|
0.00002
|
NM_000206.3(IL2RG):c.1066C>T (p.Pro356Ser)
|
rs760735556
|
0.00001
|
NM_000206.3(IL2RG):c.1080C>T (p.Pro360=)
|
rs748015056
|
0.00001
|
NM_000206.3(IL2RG):c.1081C>A (p.Pro361Thr)
|
rs778943977
|
0.00001
|
NM_000206.3(IL2RG):c.159C>T (p.Ser53=)
|
rs762084352
|
0.00001
|
NM_000206.3(IL2RG):c.270-8T>C
|
rs1373165172
|
0.00001
|
NM_000206.3(IL2RG):c.280T>A (p.Ser94Thr)
|
rs201187311
|
0.00001
|
NM_000206.3(IL2RG):c.311A>T (p.His104Leu)
|
rs770804846
|
0.00001
|
NM_000206.3(IL2RG):c.348G>T (p.Gln116His)
|
rs778547446
|
0.00001
|
NM_000206.3(IL2RG):c.366C>T (p.Ile122=)
|
rs746308376
|
0.00001
|
NM_000206.3(IL2RG):c.37T>C (p.Phe13Leu)
|
rs1015272346
|
0.00001
|
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp)
|
rs758080286
|
0.00001
|
NM_000206.3(IL2RG):c.412C>T (p.Pro138Ser)
|
rs1266997803
|
0.00001
|
NM_000206.3(IL2RG):c.434T>A (p.Met145Lys)
|
rs751970923
|
0.00001
|
NM_000206.3(IL2RG):c.454+19G>A
|
rs1427562119
|
0.00001
|
NM_000206.3(IL2RG):c.455-4C>T
|
rs757827108
|
0.00001
|
NM_000206.3(IL2RG):c.553C>T (p.His185Tyr)
|
rs1477944387
|
0.00001
|
NM_000206.3(IL2RG):c.556T>G (p.Leu186Val)
|
rs1482339326
|
0.00001
|
NM_000206.3(IL2RG):c.567C>T (p.Tyr189=)
|
rs773342053
|
0.00001
|
NM_000206.3(IL2RG):c.594+17G>A
|
rs1005449113
|
0.00001
|
NM_000206.3(IL2RG):c.594+7G>A
|
rs1351674205
|
0.00001
|
NM_000206.3(IL2RG):c.600A>C (p.Gln200His)
|
rs767379303
|
0.00001
|
NM_000206.3(IL2RG):c.660G>A (p.Thr220=)
|
rs1418438406
|
0.00001
|
NM_000206.3(IL2RG):c.702T>C (p.Ala234=)
|
rs769253412
|
0.00001
|
NM_000206.3(IL2RG):c.739G>A (p.Gly247Arg)
|
rs745952883
|
0.00001
|
NM_000206.3(IL2RG):c.743G>A (p.Ser248Asn)
|
rs748539696
|
0.00001
|
NM_000206.3(IL2RG):c.758-19G>T
|
rs1270559875
|
0.00001
|
NM_000206.3(IL2RG):c.758-4A>G
|
rs781154927
|
0.00001
|
NM_000206.3(IL2RG):c.758-8T>C
|
rs750518545
|
0.00001
|
NM_000206.3(IL2RG):c.798T>C (p.Ser266=)
|
rs764914063
|
0.00001
|
NM_000206.3(IL2RG):c.799G>A (p.Val267Ile)
|
rs759051897
|
0.00001
|
NM_000206.3(IL2RG):c.816G>A (p.Leu272=)
|
rs1272158575
|
0.00001
|
NM_000206.3(IL2RG):c.888A>G (p.Leu296=)
|
rs1409653685
|
0.00001
|
NM_000206.3(IL2RG):c.924+9G>T
|
rs1198550634
|
0.00001
|
NM_000206.3(IL2RG):c.927C>T (p.Ala309=)
|
rs1324352273
|
0.00001
|
NM_000206.3(IL2RG):c.961C>T (p.Leu321=)
|
rs1274437223
|
0.00001
|
NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn)
|
rs779190567
|
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.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
|
NM_000732.6(CD3D):c.140C>T (p.Thr47Met)
|
rs529884894
|
0.00001
|
NM_000732.6(CD3D):c.148A>T (p.Thr50Ser)
|
rs1217732214
|
0.00001
|
NM_000732.6(CD3D):c.19C>T (p.Leu7Phe)
|
rs1357653391
|
0.00001
|
NM_000732.6(CD3D):c.255C>T (p.Thr85=)
|
rs200910273
|
0.00001
|
NM_000732.6(CD3D):c.274+5G>A
|
rs730880296
|
0.00001
|
NM_000732.6(CD3D):c.275T>C (p.Met92Thr)
|
rs201266811
|
0.00001
|
NM_000732.6(CD3D):c.279C>A (p.Cys93Ter)
|
rs111033581
|
0.00001
|
NM_000732.6(CD3D):c.28C>G (p.Leu10Val)
|
rs758632643
|
0.00001
|
NM_000732.6(CD3D):c.309C>T (p.Thr103=)
|
rs777386322
|
0.00001
|
NM_000732.6(CD3D):c.317G>A (p.Gly106Asp)
|
rs996998665
|
0.00001
|
NM_000732.6(CD3D):c.343A>T (p.Thr115Ser)
|
rs762023030
|
0.00001
|
NM_000732.6(CD3D):c.406+5G>A
|
rs201527689
|
0.00001
|
NM_000732.6(CD3D):c.407-2A>G
|
rs1341165259
|
0.00001
|
NM_000732.6(CD3D):c.412G>A (p.Asp138Asn)
|
rs547344580
|
0.00001
|
NM_000732.6(CD3D):c.435T>A (p.Asn145Lys)
|
rs1170396966
|
0.00001
|
NM_000732.6(CD3D):c.440A>G (p.Gln147Arg)
|
rs45510201
|
0.00001
|
NM_000732.6(CD3D):c.450+19G>A
|
rs779545897
|
0.00001
|
NM_000732.6(CD3D):c.450+8T>C
|
rs768378803
|
0.00001
|
NM_000732.6(CD3D):c.453C>T (p.Pro151=)
|
rs745794915
|
0.00001
|
NM_000732.6(CD3D):c.455T>C (p.Leu152Pro)
|
rs1377972098
|
0.00001
|
NM_000732.6(CD3D):c.457C>T (p.Arg153Ter)
|
rs201994476
|
0.00001
|
NM_000732.6(CD3D):c.463C>T (p.Arg155Ter)
|
rs777721098
|
0.00001
|
NM_000732.6(CD3D):c.506G>A (p.Arg169Gln)
|
rs200108243
|
0.00001
|
NM_000732.6(CD3D):c.76A>G (p.Ile26Val)
|
rs201374139
|
0.00001
|
NM_000732.6(CD3D):c.77T>C (p.Ile26Thr)
|
rs929117843
|
0.00001
|
NM_000732.6(CD3D):c.81G>A (p.Glu27=)
|
rs144504840
|
0.00001
|
NM_000732.6(CD3D):c.91G>A (p.Asp31Asn)
|
rs1191172324
|
0.00001
|
NM_000733.4(CD3E):c.104-16C>T
|
rs747320277
|
0.00001
|
NM_000733.4(CD3E):c.297C>T (p.Tyr99=)
|
rs143203193
|
0.00001
|
NM_000733.4(CD3E):c.324G>A (p.Ala108=)
|
rs1313464574
|
0.00001
|
NM_000733.4(CD3E):c.353-11A>T
|
rs199933802
|
0.00001
|
NM_000733.4(CD3E):c.353-13C>G
|
rs1948148867
|
0.00001
|
NM_000733.4(CD3E):c.353-4A>C
|
rs760176475
|
0.00001
|
NM_000733.4(CD3E):c.447C>T (p.Tyr149=)
|
rs1302050891
|
0.00001
|
NM_000733.4(CD3E):c.464G>A (p.Arg155Lys)
|
rs764151020
|
0.00001
|
NM_000733.4(CD3E):c.480G>A (p.Lys160=)
|
rs746750290
|
0.00001
|
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter)
|
rs201840561
|
0.00001
|
NM_000733.4(CD3E):c.534G>A (p.Glu178=)
|
rs948241853
|
0.00001
|
NM_000733.4(CD3E):c.548T>C (p.Val183Ala)
|
rs148290036
|
0.00001
|
NM_000733.4(CD3E):c.55G>A (p.Val19Ile)
|
rs143630318
|
0.00001
|
NM_000733.4(CD3E):c.579A>G (p.Lys193=)
|
rs759238312
|
0.00001
|
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg)
|
rs1291390174
|
0.00001
|
NM_000733.4(CD3E):c.71-2A>G
|
rs908640922
|
0.00001
|
NM_000733.4(CD3E):c.85+7A>T
|
rs371830720
|
0.00001
|
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu)
|
rs771841066
|
0.00001
|
NM_002185.5(IL7R):c.1070C>T (p.Thr357Ile)
|
rs1235095542
|
0.00001
|
NM_002185.5(IL7R):c.1130G>T (p.Cys377Phe)
|
rs757426044
|
0.00001
|
NM_002185.5(IL7R):c.1139C>G (p.Pro380Arg)
|
rs780521625
|
0.00001
|
NM_002185.5(IL7R):c.1237A>T (p.Ser413Cys)
|
rs368172701
|
0.00001
|
NM_002185.5(IL7R):c.1238G>C (p.Ser413Thr)
|
rs756406426
|
0.00001
|
NM_002185.5(IL7R):c.1274T>C (p.Ile425Thr)
|
rs1177291745
|
0.00001
|
NM_002185.5(IL7R):c.1302T>G (p.Gly434=)
|
rs1464223994
|
0.00001
|
NM_002185.5(IL7R):c.1355T>C (p.Met452Thr)
|
rs1256864447
|
0.00001
|
NM_002185.5(IL7R):c.1362C>T (p.Ser454=)
|
rs760766611
|
0.00001
|
NM_002185.5(IL7R):c.164T>C (p.Leu55Pro)
|
rs1273552553
|
0.00001
|
NM_002185.5(IL7R):c.165G>A (p.Leu55=)
|
rs748495760
|
0.00001
|
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)
|
rs141698985
|
0.00001
|
NM_002185.5(IL7R):c.306T>A (p.Ile102=)
|
rs200241281
|
0.00001
|
NM_002185.5(IL7R):c.313A>C (p.Ser105Arg)
|
rs199742437
|
0.00001
|
NM_002185.5(IL7R):c.32T>C (p.Val11Ala)
|
rs539820821
|
0.00001
|
NM_002185.5(IL7R):c.346C>T (p.Leu116=)
|
rs894868423
|
0.00001
|
NM_002185.5(IL7R):c.366C>A (p.Asp122Glu)
|
rs140473900
|
0.00001
|
NM_002185.5(IL7R):c.411C>T (p.Val137=)
|
rs545307253
|
0.00001
|
NM_002185.5(IL7R):c.418C>T (p.Arg140Trp)
|
rs773491081
|
0.00001
|
NM_002185.5(IL7R):c.433G>A (p.Asp145Asn)
|
rs201790329
|
0.00001
|
NM_002185.5(IL7R):c.515A>G (p.Glu172Gly)
|
rs199654814
|
0.00001
|
NM_002185.5(IL7R):c.519G>A (p.Lys173=)
|
rs143661008
|
0.00001
|
NM_002185.5(IL7R):c.537+19T>C
|
rs200135239
|
0.00001
|
NM_002185.5(IL7R):c.538-15C>T
|
rs529815765
|
0.00001
|
NM_002185.5(IL7R):c.53T>C (p.Val18Ala)
|
rs1472882776
|
0.00001
|
NM_002185.5(IL7R):c.573G>T (p.Leu191=)
|
rs775310578
|
0.00001
|
NM_002185.5(IL7R):c.590C>T (p.Pro197Leu)
|
rs587778404
|
0.00001
|
NM_002185.5(IL7R):c.593C>T (p.Ala198Val)
|
rs1580862263
|
0.00001
|
NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)
|
rs201559094
|
0.00001
|
NM_002185.5(IL7R):c.625C>T (p.Pro209Ser)
|
rs748643880
|
0.00001
|
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)
|
rs587778405
|
0.00001
|
NM_002185.5(IL7R):c.675C>A (p.Tyr225Ter)
|
rs1390410878
|
0.00001
|
NM_002185.5(IL7R):c.706+10G>A
|
rs769184941
|
0.00001
|
NM_002185.5(IL7R):c.771C>T (p.Val257=)
|
rs760499889
|
0.00001
|
NM_002185.5(IL7R):c.777G>A (p.Leu259=)
|
rs866083752
|
0.00001
|
NM_002185.5(IL7R):c.788T>C (p.Leu263Ser)
|
rs1369125529
|
0.00001
|
NM_002185.5(IL7R):c.814G>A (p.Val272Ile)
|
rs369971728
|
0.00001
|
NM_002185.5(IL7R):c.83-1G>A
|
rs200803157
|
0.00001
|
NM_002185.5(IL7R):c.83-2A>T
|
rs886060531
|
0.00001
|
NM_002838.5(PTPRC):c.101-3C>G
|
rs896355135
|
0.00001
|
NM_002838.5(PTPRC):c.1033+13C>A
|
rs761456309
|
0.00001
|
NM_002838.5(PTPRC):c.1033+16T>C
|
rs369473239
|
0.00001
|
NM_002838.5(PTPRC):c.1141G>A (p.Ala381Thr)
|
rs776036789
|
0.00001
|
NM_002838.5(PTPRC):c.114A>G (p.Ala38=)
|
rs917339656
|
0.00001
|
NM_002838.5(PTPRC):c.1167T>C (p.Phe389=)
|
rs373956784
|
0.00001
|
NM_002838.5(PTPRC):c.1172-6T>G
|
rs1257301505
|
0.00001
|
NM_002838.5(PTPRC):c.1218T>C (p.His406=)
|
rs1351452497
|
0.00001
|
NM_002838.5(PTPRC):c.1326C>A (p.Ile442=)
|
rs1323507987
|
0.00001
|
NM_002838.5(PTPRC):c.1357A>T (p.Thr453Ser)
|
rs1297093496
|
0.00001
|
NM_002838.5(PTPRC):c.139A>G (p.Ser47Gly)
|
rs149488488
|
0.00001
|
NM_002838.5(PTPRC):c.1439C>G (p.Thr480Ser)
|
rs1410179985
|
0.00001
|
NM_002838.5(PTPRC):c.1456A>G (p.Ser486Gly)
|
rs1432775291
|
0.00001
|
NM_002838.5(PTPRC):c.1470C>T (p.Asn490=)
|
rs752230174
|
0.00001
|
NM_002838.5(PTPRC):c.1494T>A (p.Asp498Glu)
|
rs555467190
|
0.00001
|
NM_002838.5(PTPRC):c.1531C>T (p.Arg511Cys)
|
rs746951007
|
0.00001
|
NM_002838.5(PTPRC):c.1556A>G (p.His519Arg)
|
rs1203819767
|
0.00001
|
NM_002838.5(PTPRC):c.1598C>T (p.Ser533Leu)
|
rs1333928530
|
0.00001
|
NM_002838.5(PTPRC):c.1695C>T (p.Pro565=)
|
rs771492646
|
0.00001
|
NM_002838.5(PTPRC):c.1743A>G (p.Ala581=)
|
rs777344995
|
0.00001
|
NM_002838.5(PTPRC):c.178G>A (p.Ala60Thr)
|
rs774680729
|
0.00001
|
NM_002838.5(PTPRC):c.1805A>G (p.Tyr602Cys)
|
rs370560920
|
0.00001
|
NM_002838.5(PTPRC):c.1813C>A (p.His605Asn)
|
rs778714061
|
0.00001
|
NM_002838.5(PTPRC):c.1829+16A>G
|
rs1234637862
|
0.00001
|
NM_002838.5(PTPRC):c.1830-3C>T
|
rs1002172116
|
0.00001
|
NM_002838.5(PTPRC):c.1834T>G (p.Leu612Val)
|
rs1417282394
|
0.00001
|
NM_002838.5(PTPRC):c.1875A>G (p.Lys625=)
|
rs149572877
|
0.00001
|
NM_002838.5(PTPRC):c.1879C>T (p.Leu627=)
|
rs1654391777
|
0.00001
|
NM_002838.5(PTPRC):c.1891G>A (p.Glu631Lys)
|
rs1486244862
|
0.00001
|
NM_002838.5(PTPRC):c.1929G>A (p.Lys643=)
|
rs188500261
|
0.00001
|
NM_002838.5(PTPRC):c.1975-7C>G
|
rs1558028614
|
0.00001
|
NM_002838.5(PTPRC):c.1989G>T (p.Val663=)
|
rs1654429978
|
0.00001
|
NM_002838.5(PTPRC):c.2077C>T (p.Arg693Cys)
|
rs1654440365
|
0.00001
|
NM_002838.5(PTPRC):c.2113T>C (p.Ser705Pro)
|
rs771941224
|
0.00001
|
NM_002838.5(PTPRC):c.2122A>G (p.Ile708Val)
|
rs760430276
|
0.00001
|
NM_002838.5(PTPRC):c.2180-9A>G
|
rs746925954
|
0.00001
|
NM_002838.5(PTPRC):c.2252T>C (p.Val751Ala)
|
rs1464440498
|
0.00001
|
NM_002838.5(PTPRC):c.226C>G (p.Leu76Val)
|
rs975885112
|
0.00001
|
NM_002838.5(PTPRC):c.2309A>G (p.Glu770Gly)
|
rs752691679
|
0.00001
|
NM_002838.5(PTPRC):c.2321G>A (p.Arg774Gln)
|
rs755859528
|
0.00001
|
NM_002838.5(PTPRC):c.2403+9G>T
|
rs765154448
|
0.00001
|
NM_002838.5(PTPRC):c.2499A>G (p.Lys833=)
|
rs975797535
|
0.00001
|
NM_002838.5(PTPRC):c.2519C>T (p.Ala840Val)
|
rs774612719
|
0.00001
|
NM_002838.5(PTPRC):c.2561+11C>T
|
rs375553789
|
0.00001
|
NM_002838.5(PTPRC):c.2585C>G (p.Thr862Ser)
|
rs779274312
|
0.00001
|
NM_002838.5(PTPRC):c.2697+6T>A
|
rs938718659
|
0.00001
|
NM_002838.5(PTPRC):c.2698-6T>C
|
rs753220314
|
0.00001
|
NM_002838.5(PTPRC):c.2790T>C (p.His930=)
|
rs775939547
|
0.00001
|
NM_002838.5(PTPRC):c.2822C>T (p.Pro941Leu)
|
rs577595945
|
0.00001
|
NM_002838.5(PTPRC):c.2837C>G (p.Ala946Gly)
|
rs1269014792
|
0.00001
|
NM_002838.5(PTPRC):c.2848-4T>C
|
rs769027528
|
0.00001
|
NM_002838.5(PTPRC):c.2907_2909dup (p.Lys969_Ser970insArg)
|
rs755878222
|
0.00001
|
NM_002838.5(PTPRC):c.2943C>T (p.Asp981=)
|
rs748711598
|
0.00001
|
NM_002838.5(PTPRC):c.3043A>G (p.Ser1015Gly)
|
rs755914577
|
0.00001
|
NM_002838.5(PTPRC):c.3067A>G (p.Ile1023Val)
|
rs779502543
|
0.00001
|
NM_002838.5(PTPRC):c.3076T>C (p.Tyr1026His)
|
rs759308256
|
0.00001
|
NM_002838.5(PTPRC):c.310G>A (p.Val104Ile)
|
rs988779141
|
0.00001
|
NM_002838.5(PTPRC):c.3130G>A (p.Gly1044Ser)
|
rs535347024
|
0.00001
|
NM_002838.5(PTPRC):c.3147G>A (p.Met1049Ile)
|
rs756437273
|
0.00001
|
NM_002838.5(PTPRC):c.3168A>C (p.Lys1056Asn)
|
rs774382417
|
0.00001
|
NM_002838.5(PTPRC):c.3388C>T (p.Leu1130Phe)
|
rs765840478
|
0.00001
|
NM_002838.5(PTPRC):c.3415T>C (p.Ser1139Pro)
|
rs937199866
|
0.00001
|
NM_002838.5(PTPRC):c.3416C>T (p.Ser1139Phe)
|
rs549131091
|
0.00001
|
NM_002838.5(PTPRC):c.3425A>C (p.Gln1142Pro)
|
rs778966323
|
0.00001
|
NM_002838.5(PTPRC):c.3429C>T (p.Val1143=)
|
rs201509862
|
0.00001
|
NM_002838.5(PTPRC):c.3517T>G (p.Ser1173Ala)
|
rs772354314
|
0.00001
|
NM_002838.5(PTPRC):c.3551A>C (p.Asn1184Thr)
|
rs762923302
|
0.00001
|
NM_002838.5(PTPRC):c.3607G>T (p.Ala1203Ser)
|
rs779568827
|
0.00001
|
NM_002838.5(PTPRC):c.3613C>T (p.Arg1205Cys)
|
rs377490765
|
0.00001
|
NM_002838.5(PTPRC):c.3646-15T>G
|
rs749945770
|
0.00001
|
NM_002838.5(PTPRC):c.3646-5A>G
|
rs1177239218
|
0.00001
|
NM_002838.5(PTPRC):c.3661C>A (p.Leu1221Ile)
|
rs766000320
|
0.00001
|
NM_002838.5(PTPRC):c.3705A>C (p.Gln1235His)
|
rs781422394
|
0.00001
|
NM_002838.5(PTPRC):c.3712A>C (p.Lys1238Gln)
|
rs749440246
|
0.00001
|
NM_002838.5(PTPRC):c.371C>T (p.Thr124Met)
|
rs765927930
|
0.00001
|
NM_002838.5(PTPRC):c.3737T>C (p.Ile1246Thr)
|
rs770664477
|
0.00001
|
NM_002838.5(PTPRC):c.3771G>A (p.Gln1257=)
|
rs752027272
|
0.00001
|
NM_002838.5(PTPRC):c.3840T>A (p.Gly1280=)
|
rs759468863
|
0.00001
|
NM_002838.5(PTPRC):c.3848C>G (p.Pro1283Arg)
|
rs775293081
|
0.00001
|
NM_002838.5(PTPRC):c.399T>C (p.Asn133=)
|
rs1371490627
|
0.00001
|
NM_002838.5(PTPRC):c.3G>T (p.Met1Ile)
|
rs759182888
|
0.00001
|
NM_002838.5(PTPRC):c.435C>T (p.Ile145=)
|
rs374618697
|
0.00001
|
NM_002838.5(PTPRC):c.439+13T>C
|
rs772835772
|
0.00001
|
NM_002838.5(PTPRC):c.492C>T (p.Ser164=)
|
rs1053467525
|
0.00001
|
NM_002838.5(PTPRC):c.511A>G (p.Ser171Gly)
|
rs945167747
|
0.00001
|
NM_002838.5(PTPRC):c.542C>T (p.Pro181Leu)
|
rs1470776251
|
0.00001
|
NM_002838.5(PTPRC):c.579C>T (p.Thr193=)
|
rs1469875572
|
0.00001
|
NM_002838.5(PTPRC):c.658+6A>G
|
rs61757807
|
0.00001
|
NM_002838.5(PTPRC):c.801C>A (p.Asn267Lys)
|
rs1461459776
|
0.00001
|
NM_007074.4(CORO1A):c.1007+9C>A
|
rs376748014
|
0.00001
|
NM_007074.4(CORO1A):c.1066-8G>C
|
rs371839104
|
0.00001
|
NM_007074.4(CORO1A):c.1110C>T (p.Pro370=)
|
rs770260782
|
0.00001
|
NM_007074.4(CORO1A):c.1154C>T (p.Ala385Val)
|
rs776691038
|
0.00001
|
NM_007074.4(CORO1A):c.1173C>T (p.Ser391=)
|
rs571608809
|
0.00001
|
NM_007074.4(CORO1A):c.1224G>C (p.Arg408=)
|
rs768451328
|
0.00001
|
NM_007074.4(CORO1A):c.1236C>T (p.Thr412=)
|
rs557170757
|
0.00001
|
NM_007074.4(CORO1A):c.222G>A (p.Ala74=)
|
rs747607776
|
0.00001
|
NM_007074.4(CORO1A):c.227C>T (p.Thr76Met)
|
rs768984732
|
0.00001
|
NM_007074.4(CORO1A):c.237C>T (p.Gly79=)
|
rs201766395
|
0.00001
|
NM_007074.4(CORO1A):c.261C>T (p.Ile87=)
|
rs763085431
|
0.00001
|
NM_007074.4(CORO1A):c.272C>T (p.Pro91Leu)
|
rs773962517
|
0.00001
|
NM_007074.4(CORO1A):c.276C>A (p.His92Gln)
|
rs775164105
|
0.00001
|
NM_007074.4(CORO1A):c.286G>A (p.Val96Ile)
|
rs756845489
|
0.00001
|
NM_007074.4(CORO1A):c.362G>A (p.Arg121Gln)
|
rs779055659
|
0.00001
|
NM_007074.4(CORO1A):c.408T>C (p.Ile136=)
|
rs1435378677
|
0.00001
|
NM_007074.4(CORO1A):c.435C>T (p.Asn145=)
|
rs762584647
|
0.00001
|
NM_007074.4(CORO1A):c.436G>A (p.Val146Met)
|
rs957489816
|
0.00001
|
NM_007074.4(CORO1A):c.463G>A (p.Val155Met)
|
rs765244440
|
0.00001
|
NM_007074.4(CORO1A):c.480C>T (p.Asp160=)
|
rs1445453106
|
0.00001
|
NM_007074.4(CORO1A):c.514C>G (p.Pro172Ala)
|
rs1160891433
|
0.00001
|
NM_007074.4(CORO1A):c.533C>T (p.Thr178Met)
|
rs551747429
|
0.00001
|
NM_007074.4(CORO1A):c.57C>T (p.Ala19=)
|
rs1032858184
|
0.00001
|
NM_007074.4(CORO1A):c.597C>T (p.Arg199=)
|
rs531482387
|
0.00001
|
NM_007074.4(CORO1A):c.654C>T (p.His218=)
|
rs772017896
|
0.00001
|
NM_007074.4(CORO1A):c.689C>T (p.Ser230Leu)
|
rs754616768
|
0.00001
|
NM_007074.4(CORO1A):c.729T>C (p.Ser243=)
|
rs2073354742
|
0.00001
|
NM_007074.4(CORO1A):c.747G>A (p.Leu249=)
|
rs772251544
|
0.00001
|
NM_007074.4(CORO1A):c.877C>T (p.Arg293Trp)
|
rs1262973323
|
0.00001
|
NM_007074.4(CORO1A):c.931A>G (p.Ser311Gly)
|
rs769394096
|
0.00001
|
NM_007074.4(CORO1A):c.936C>T (p.Ser312=)
|
rs148629867
|
0.00001
|
NM_198053.3(CD247):c.111A>T (p.Gly37=)
|
rs201451004
|
0.00001
|
NM_198053.3(CD247):c.15G>A (p.Ala5=)
|
rs746701386
|
0.00001
|
NM_198053.3(CD247):c.175G>A (p.Ala59Thr)
|
rs767112686
|
0.00001
|
NM_198053.3(CD247):c.219+9G>A
|
rs1444139145
|
0.00001
|
NM_198053.3(CD247):c.263A>G (p.Lys88Arg)
|
rs143180729
|
0.00001
|
NM_198053.3(CD247):c.268C>T (p.Arg90Cys)
|
rs148513413
|
0.00001
|
NM_198053.3(CD247):c.269G>A (p.Arg90His)
|
rs1162990874
|
0.00001
|
NM_198053.3(CD247):c.27G>A (p.Ala9=)
|
rs757294201
|
0.00001
|
NM_198053.3(CD247):c.289G>A (p.Gly97Arg)
|
rs56297636
|
0.00001
|
NM_198053.3(CD247):c.300+3A>G
|
rs1259655555
|
0.00001
|
NM_198053.3(CD247):c.301-15C>T
|
rs778391175
|
0.00001
|
NM_198053.3(CD247):c.337-6C>A
|
rs1313839129
|
0.00001
|
NM_198053.3(CD247):c.359C>T (p.Ala120Val)
|
rs745871212
|
0.00001
|
NM_198053.3(CD247):c.386A>G (p.Lys129Arg)
|
rs756340039
|
0.00001
|
NM_198053.3(CD247):c.394-10A>G
|
rs369387062
|
0.00001
|
NM_198053.3(CD247):c.39G>A (p.Gln13=)
|
rs760945719
|
0.00001
|
NM_198053.3(CD247):c.429+16G>A
|
rs777799139
|
0.00001
|
NM_198053.3(CD247):c.429+19C>T
|
rs769910123
|
0.00001
|
NM_198053.3(CD247):c.490C>T (p.Arg164Cys)
|
rs752198795
|
0.00001
|
NM_198053.3(CD247):c.495A>C (p.Ter165Tyr)
|
rs1651272129
|
0.00001
|
NM_198053.3(CD247):c.51dup (p.Ile18fs)
|
rs1553238837
|
0.00001
|
NC_000001.10:g.(?_167400898)_(167487722_?)dup
|
|
|
NC_000001.10:g.(?_167400918)_(167410024_?)dup
|
|
|
NC_000001.10:g.(?_167400918)_(168282240_?)dup
|
|
|
NC_000001.10:g.(?_167487625)_(167487702_?)del
|
|
|
NC_000001.10:g.(?_198608399)_(198725310_?)dup
|
|
|
NC_000005.10:g.(?_35860832)_(35871233_?)del
|
|
|
NC_000005.10:g.(?_35867286)_(35867483_?)del
|
|
|
NC_000005.9:g.(?_35857060)_(35857181_?)del
|
|
|
NC_000011.9:g.(?_116691583)_(121500272_?)dup
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)del
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)dup
|
|
|
NC_000011.9:g.(?_118175668)_(118179176_?)del
|
|
|
NC_000016.10:g.(?_30066878)_(30188596_?)del
|
|
|
NC_000016.10:g.(?_30066878)_(30188984_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)dup
|
|
|
NC_000016.9:g.(?_30078199)_(30199917_?)dup
|
|
|
NC_000016.9:g.(?_30078199)_(30200305_?)dup
|
|
|
NC_000016.9:g.(?_30196531)_30199897del
|
|
|
NC_000016.9:g.(?_30199895)_(30237215_?)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
|
|
|
NC_000023.10:g.(?_70327586)_(70683896_?)dup
|
|
|
NC_000023.10:g.(?_70328107)_(70328216_?)del
|
|
|
NC_000023.10:g.(?_70330774)_(70331695_?)del
|
|
|
NC_000023.11:g.(?_71108277)_(71108346_?)del
|
|
|
NC_000023.11:g.71111644G>T
|
|
|
NM_000206.2(IL2RG):c.-105C>T
|
rs1396169268
|
|
NM_000206.3(IL2RG):c.*307_*308del
|
rs2147745220
|
|
NM_000206.3(IL2RG):c.1008C>T (p.Pro336=)
|
rs2092253805
|
|
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter)
|
rs1556331272
|
|
NM_000206.3(IL2RG):c.1010C>A (p.Pro337Gln)
|
|
|
NM_000206.3(IL2RG):c.1035G>T (p.Gly345=)
|
|
|
NM_000206.3(IL2RG):c.1041G>T (p.Gly347=)
|
|
|
NM_000206.3(IL2RG):c.1043C>T (p.Ala348Val)
|
|
|
NM_000206.3(IL2RG):c.1045T>G (p.Ser349Ala)
|
|
|
NM_000206.3(IL2RG):c.1046C>T (p.Ser349Phe)
|
|
|
NM_000206.3(IL2RG):c.1048C>T (p.Pro350Ser)
|
|
|
NM_000206.3(IL2RG):c.1049del (p.Pro350fs)
|
|
|
NM_000206.3(IL2RG):c.1059G>A (p.Gln353=)
|
rs2147745813
|
|
NM_000206.3(IL2RG):c.1077C>G (p.Ala359=)
|
rs772150263
|
|
NM_000206.3(IL2RG):c.1077C>T (p.Ala359=)
|
rs772150263
|
|
NM_000206.3(IL2RG):c.1080C>A (p.Pro360=)
|
rs748015056
|
|
NM_000206.3(IL2RG):c.1082del (p.Pro361fs)
|
rs745545309
|
|
NM_000206.3(IL2RG):c.1089C>T (p.Tyr363=)
|
|
|
NM_000206.3(IL2RG):c.1091C>A (p.Thr364Asn)
|
|
|
NM_000206.3(IL2RG):c.1092C>A (p.Thr364=)
|
|
|
NM_000206.3(IL2RG):c.1094T>C (p.Leu365Pro)
|
rs1602287912
|
|
NM_000206.3(IL2RG):c.1098G>A (p.Lys366=)
|
rs2147745670
|
|
NM_000206.3(IL2RG):c.1098_1099delinsTT (p.Lys366_Pro367delinsAsnSer)
|
rs2147745662
|
|
NM_000206.3(IL2RG):c.1107C>T (p.Thr369=)
|
|
|
NM_000206.3(IL2RG):c.115+10C>T
|
|
|
NM_000206.3(IL2RG):c.115+13G>A
|
|
|
NM_000206.3(IL2RG):c.115+2T>C
|
rs2147751760
|
|
NM_000206.3(IL2RG):c.116-14T>A
|
|
|
NM_000206.3(IL2RG):c.116-1G>A
|
rs2147751144
|
|
NM_000206.3(IL2RG):c.116-2A>G
|
rs2147751146
|
|
NM_000206.3(IL2RG):c.116-8C>T
|
|
|
NM_000206.3(IL2RG):c.124C>T (p.Leu42=)
|
|
|
NM_000206.3(IL2RG):c.126del (p.Thr43fs)
|
|
|
NM_000206.3(IL2RG):c.130_139del (p.Thr44fs)
|
|
|
NM_000206.3(IL2RG):c.138C>T (p.Pro46=)
|
rs1393929587
|
|
NM_000206.3(IL2RG):c.147C>T (p.Ser49=)
|
|
|
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs)
|
rs2092262555
|
|
NM_000206.3(IL2RG):c.148del (p.Leu50fs)
|
rs2147751090
|
|
NM_000206.3(IL2RG):c.153T>A (p.Ser51Arg)
|
|
|
NM_000206.3(IL2RG):c.15A>G (p.Ser5=)
|
|
|
NM_000206.3(IL2RG):c.15A>T (p.Ser5=)
|
rs2147751939
|
|
NM_000206.3(IL2RG):c.17T>C (p.Leu6Ser)
|
rs2092264087
|
|
NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg)
|
rs1602289649
|
|
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)
|
rs1057520644
|
|
NM_000206.3(IL2RG):c.204G>A (p.Glu68=)
|
|
|
NM_000206.3(IL2RG):c.206A>G (p.Tyr69Cys)
|
|
|
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter)
|
rs1282558220
|
|
NM_000206.3(IL2RG):c.207C>T (p.Tyr69=)
|
|
|
NM_000206.3(IL2RG):c.215G>T (p.Cys72Phe)
|
rs1556330960
|
|
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)
|
rs2147750927
|
|
NM_000206.3(IL2RG):c.216C>T (p.Cys72=)
|
|
|
NM_000206.3(IL2RG):c.219T>A (p.Thr73=)
|
|
|
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)
|
rs1602289631
|
|
NM_000206.3(IL2RG):c.231C>T (p.Ser77=)
|
rs1556330951
|
|
NM_000206.3(IL2RG):c.238C>A (p.Pro80Thr)
|
rs2147750896
|
|
NM_000206.3(IL2RG):c.249C>T (p.Thr83=)
|
rs2147750887
|
|
NM_000206.3(IL2RG):c.258T>G (p.Thr86=)
|
|
|
NM_000206.3(IL2RG):c.261G>T (p.Leu87=)
|
rs2147750860
|
|
NM_000206.3(IL2RG):c.266A>G (p.Tyr89Cys)
|
|
|
NM_000206.3(IL2RG):c.267T>C (p.Tyr89=)
|
rs2147750855
|
|
NM_000206.3(IL2RG):c.268_269del (p.Trp90fs)
|
|
|
NM_000206.3(IL2RG):c.269+11G>C
|
|
|
NM_000206.3(IL2RG):c.269+15G>A
|
rs2092262251
|
|
NM_000206.3(IL2RG):c.269+16del
|
|
|
NM_000206.3(IL2RG):c.269+17G>C
|
|
|
NM_000206.3(IL2RG):c.269+18G>C
|
|
|
NM_000206.3(IL2RG):c.269+1G>T
|
rs2092262300
|
|
NM_000206.3(IL2RG):c.269G>T (p.Trp90Leu)
|
rs2092262308
|
|
NM_000206.3(IL2RG):c.270-11T>C
|
|
|
NM_000206.3(IL2RG):c.270-15A>G
|
rs886039387
|
|
NM_000206.3(IL2RG):c.270-15A>T
|
rs886039387
|
|
NM_000206.3(IL2RG):c.270-1G>T
|
rs193922346
|
|
NM_000206.3(IL2RG):c.270-4C>G
|
|
|
NM_000206.3(IL2RG):c.270-7C>G
|
|
|
NM_000206.3(IL2RG):c.270-7C>T
|
|
|
NM_000206.3(IL2RG):c.270G>A (p.Trp90Ter)
|
rs1569480047
|
|
NM_000206.3(IL2RG):c.270G>C (p.Trp90Cys)
|
|
|
NM_000206.3(IL2RG):c.270G>T (p.Trp90Cys)
|
rs1569480047
|
|
NM_000206.3(IL2RG):c.278A>G (p.Asn93Ser)
|
|
|
NM_000206.3(IL2RG):c.279C>T (p.Asn93=)
|
|
|
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs)
|
rs2147751892
|
|
NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)
|
rs775704953
|
|
NM_000206.3(IL2RG):c.294del (p.Val99fs)
|
rs2092261618
|
|
NM_000206.3(IL2RG):c.302_384dup (p.Val129fs)
|
rs2147750252
|
|
NM_000206.3(IL2RG):c.30C>T (p.Ser10=)
|
|
|
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)
|
rs193922347
|
|
NM_000206.3(IL2RG):c.316C>T (p.Leu106=)
|
rs2092261547
|
|
NM_000206.3(IL2RG):c.318A>G (p.Leu106=)
|
rs1389116834
|
|
NM_000206.3(IL2RG):c.31C>T (p.Leu11Phe)
|
|
|
NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter)
|
rs2147750382
|
|
NM_000206.3(IL2RG):c.32T>C (p.Leu11Pro)
|
rs1204738180
|
|
NM_000206.3(IL2RG):c.333C>A (p.Ile111=)
|
|
|
NM_000206.3(IL2RG):c.333C>G (p.Ile111Met)
|
rs1373609177
|
|
NM_000206.3(IL2RG):c.333C>T (p.Ile111=)
|
|
|
NM_000206.3(IL2RG):c.340G>T (p.Gly114Cys)
|
rs2147750359
|
|
NM_000206.3(IL2RG):c.344G>A (p.Cys115Tyr)
|
rs1556330755
|
|
NM_000206.3(IL2RG):c.344G>T (p.Cys115Phe)
|
rs1556330755
|
|
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)
|
|
|
NM_000206.3(IL2RG):c.350_351insA (p.Gln118fs)
|
|
|
NM_000206.3(IL2RG):c.352C>T (p.Gln118Ter)
|
|
|
NM_000206.3(IL2RG):c.358A>G (p.Lys120Glu)
|
|
|
NM_000206.3(IL2RG):c.359dup (p.Glu121fs)
|
rs2147750311
|
|
NM_000206.3(IL2RG):c.363G>A (p.Glu121=)
|
|
|
NM_000206.3(IL2RG):c.369C>T (p.His123=)
|
rs2092261325
|
|
NM_000206.3(IL2RG):c.371_372insAGT (p.Leu124_Tyr125insVal)
|
|
|
NM_000206.3(IL2RG):c.376del (p.Gln126fs)
|
|
|
NM_000206.3(IL2RG):c.381A>C (p.Thr127=)
|
rs970632466
|
|
NM_000206.3(IL2RG):c.381A>G (p.Thr127=)
|
rs970632466
|
|
NM_000206.3(IL2RG):c.395T>A (p.Leu132His)
|
rs2092261278
|
|
NM_000206.3(IL2RG):c.395T>G (p.Leu132Arg)
|
rs2092261278
|
|
NM_000206.3(IL2RG):c.401A>G (p.Asp134Gly)
|
rs2147750229
|
|
NM_000206.3(IL2RG):c.405A>C (p.Pro135=)
|
|
|
NM_000206.3(IL2RG):c.430C>T (p.Gln144Ter)
|
rs1602289411
|
|
NM_000206.3(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal)
|
rs1602289405
|
|
NM_000206.3(IL2RG):c.433A>G (p.Met145Val)
|
rs1602289401
|
|
NM_000206.3(IL2RG):c.437T>C (p.Leu146Pro)
|
|
|
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro)
|
rs137852511
|
|
NM_000206.3(IL2RG):c.454+18G>C
|
|
|
NM_000206.3(IL2RG):c.455-13C>T
|
|
|
NM_000206.3(IL2RG):c.455-17T>G
|
rs768114423
|
|
NM_000206.3(IL2RG):c.455-19T>C
|
|
|
NM_000206.3(IL2RG):c.455-2A>C
|
rs2092260728
|
|
NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser)
|
rs1064793153
|
|
NM_000206.3(IL2RG):c.461C>A (p.Pro154His)
|
rs1602289242
|
|
NM_000206.3(IL2RG):c.463T>A (p.Trp155Arg)
|
rs2147749841
|
|
NM_000206.3(IL2RG):c.464G>C (p.Trp155Ser)
|
|
|
NM_000206.3(IL2RG):c.467C>T (p.Ala156Val)
|
rs1057521062
|
|
NM_000206.3(IL2RG):c.471A>C (p.Pro157=)
|
|
|
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val)
|
rs2147749821
|
|
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg)
|
rs2092260648
|
|
NM_000206.3(IL2RG):c.491A>T (p.Lys164Ile)
|
|
|
NM_000206.3(IL2RG):c.504C>G (p.Ser168=)
|
|
|
NM_000206.3(IL2RG):c.515T>A (p.Leu172Gln)
|
|
|
NM_000206.3(IL2RG):c.522G>A (p.Trp174Ter)
|
rs1556330568
|
|
NM_000206.3(IL2RG):c.52del (p.Leu18fs)
|
rs2147751877
|
|
NM_000206.3(IL2RG):c.530G>T (p.Arg177Ile)
|
rs2147749719
|
|
NM_000206.3(IL2RG):c.545G>C (p.Cys182Ser)
|
rs1064794027
|
|
NM_000206.3(IL2RG):c.546_549del (p.Cys182fs)
|
rs2147749701
|
|
NM_000206.3(IL2RG):c.548del (p.Leu183fs)
|
rs1556330562
|
|
NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter)
|
rs2092260520
|
|
NM_000206.3(IL2RG):c.555C>T (p.His185=)
|
|
|
NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter)
|
rs1556330552
|
|
NM_000206.3(IL2RG):c.564G>A (p.Gln188=)
|
|
|
NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)
|
|
|
NM_000206.3(IL2RG):c.576C>T (p.Asp192=)
|
rs1378747798
|
|
NM_000206.3(IL2RG):c.577T>C (p.Trp193Arg)
|
rs2092260403
|
|
NM_000206.3(IL2RG):c.580G>T (p.Asp194Tyr)
|
rs1569479981
|
|
NM_000206.3(IL2RG):c.589T>C (p.Trp197Arg)
|
rs2147749604
|
|
NM_000206.3(IL2RG):c.594+10T>G
|
|
|
NM_000206.3(IL2RG):c.594+16C>T
|
|
|
NM_000206.3(IL2RG):c.594+1G>A
|
|
|
NM_000206.3(IL2RG):c.594+2_594+3del
|
rs1602289183
|
|
NM_000206.3(IL2RG):c.594+5G>A
|
rs2147749578
|
|
NM_000206.3(IL2RG):c.594+5G>T
|
rs2147749578
|
|
NM_000206.3(IL2RG):c.594+7G>T
|
rs1351674205
|
|
NM_000206.3(IL2RG):c.594+9C>G
|
rs1243040134
|
|
NM_000206.3(IL2RG):c.595-11T>C
|
|
|
NM_000206.3(IL2RG):c.595-17T>C
|
|
|
NM_000206.3(IL2RG):c.597A>C (p.Glu199Asp)
|
rs1602288813
|
|
NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter)
|
rs2147748363
|
|
NM_000206.3(IL2RG):c.600A>T (p.Gln200His)
|
|
|
NM_000206.3(IL2RG):c.602C>G (p.Ser201Ter)
|
rs1556330286
|
|
NM_000206.3(IL2RG):c.603_604del (p.Val202fs)
|
rs2092258288
|
|
NM_000206.3(IL2RG):c.609T>C (p.Asp203=)
|
|
|
NM_000206.3(IL2RG):c.60A>C (p.Gly20=)
|
rs772095231
|
|
NM_000206.3(IL2RG):c.60A>G (p.Gly20=)
|
|
|
NM_000206.3(IL2RG):c.612T>A (p.Tyr204Ter)
|
rs2147748344
|
|
NM_000206.3(IL2RG):c.622T>C (p.Phe208Leu)
|
rs2147748325
|
|
NM_000206.3(IL2RG):c.626C>T (p.Ser209Phe)
|
|
|
NM_000206.3(IL2RG):c.62T>C (p.Val21Ala)
|
rs376612175
|
|
NM_000206.3(IL2RG):c.632C>G (p.Pro211Arg)
|
|
|
NM_000206.3(IL2RG):c.653G>T (p.Arg218Leu)
|
|
|
NM_000206.3(IL2RG):c.664C>G (p.Arg222Gly)
|
|
|
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)
|
rs111033618
|
|
NM_000206.3(IL2RG):c.667G>A (p.Val223Ile)
|
|
|
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)
|
rs869320658
|
|
NM_000206.3(IL2RG):c.671G>C (p.Arg224Pro)
|
|
|
NM_000206.3(IL2RG):c.672G>A (p.Arg224=)
|
|
|
NM_000206.3(IL2RG):c.675C>A (p.Ser225Arg)
|
rs1569479913
|
|
NM_000206.3(IL2RG):c.675C>G (p.Ser225Arg)
|
rs1569479913
|
|
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)
|
rs869320659
|
|
NM_000206.3(IL2RG):c.677G>A (p.Arg226His)
|
rs869320660
|
|
NM_000206.3(IL2RG):c.678C>T (p.Arg226=)
|
rs2147748213
|
|
NM_000206.3(IL2RG):c.685C>A (p.Pro229Thr)
|
rs1602288776
|
|
NM_000206.3(IL2RG):c.687A>G (p.Pro229=)
|
|
|
NM_000206.3(IL2RG):c.692G>A (p.Cys231Tyr)
|
|
|
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg)
|
rs1569479909
|
|
NM_000206.3(IL2RG):c.713G>A (p.Ser238Asn)
|
rs2147748142
|
|
NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter)
|
rs1556330234
|
|
NM_000206.3(IL2RG):c.725A>G (p.His242Arg)
|
|
|
NM_000206.3(IL2RG):c.726C>T (p.His242=)
|
|
|
NM_000206.3(IL2RG):c.72C>T (p.Asn24=)
|
|
|
NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter)
|
rs2147748109
|
|
NM_000206.3(IL2RG):c.741G>A (p.Gly247=)
|
rs2147748101
|
|
NM_000206.3(IL2RG):c.753A>T (p.Ser251=)
|
rs2147748094
|
|
NM_000206.3(IL2RG):c.757+11C>G
|
|
|
NM_000206.3(IL2RG):c.757+9G>A
|
rs2147748084
|
|
NM_000206.3(IL2RG):c.758-10T>G
|
rs2147747527
|
|
NM_000206.3(IL2RG):c.758-13C>A
|
|
|
NM_000206.3(IL2RG):c.758-13C>G
|
|
|
NM_000206.3(IL2RG):c.758-14T>C
|
|
|
NM_000206.3(IL2RG):c.758-14del
|
rs1432586413
|
|
NM_000206.3(IL2RG):c.758-1G>A
|
rs886042051
|
|
NM_000206.3(IL2RG):c.758-2A>G
|
rs2147747509
|
|
NM_000206.3(IL2RG):c.758-4dup
|
rs2092256674
|
|
NM_000206.3(IL2RG):c.763C>G (p.Pro255Ala)
|
|
|
NM_000206.3(IL2RG):c.765T>C (p.Pro255=)
|
|
|
NM_000206.3(IL2RG):c.774T>C (p.Phe258=)
|
|
|
NM_000206.3(IL2RG):c.777A>G (p.Ala259=)
|
rs1355288626
|
|
NM_000206.3(IL2RG):c.779T>C (p.Leu260Ser)
|
|
|
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)
|
|
|
NM_000206.3(IL2RG):c.804C>T (p.Gly268=)
|
rs2147747411
|
|
NM_000206.3(IL2RG):c.80T>C (p.Ile27Thr)
|
|
|
NM_000206.3(IL2RG):c.811G>A (p.Gly271Arg)
|
|
|
NM_000206.3(IL2RG):c.814T>C (p.Leu272=)
|
rs2092256405
|
|
NM_000206.3(IL2RG):c.816_819del (p.Ile273fs)
|
rs2147747375
|
|
NM_000206.3(IL2RG):c.829del (p.Leu277fs)
|
|
|
NM_000206.3(IL2RG):c.835G>A (p.Val279Met)
|
|
|
NM_000206.3(IL2RG):c.839A>G (p.Tyr280Cys)
|
|
|
NM_000206.3(IL2RG):c.854+11G>C
|
|
|
NM_000206.3(IL2RG):c.854+15A>G
|
rs2147747283
|
|
NM_000206.3(IL2RG):c.854+16G>A
|
|
|
NM_000206.3(IL2RG):c.854+2T>C
|
rs2147747293
|
|
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln)
|
rs111033617
|
|
NM_000206.3(IL2RG):c.855-10C>A
|
rs2147746856
|
|
NM_000206.3(IL2RG):c.855-18C>T
|
|
|
NM_000206.3(IL2RG):c.855-19C>T
|
|
|
NM_000206.3(IL2RG):c.855-1G>A
|
rs1556329822
|
|
NM_000206.3(IL2RG):c.855-20C>T
|
|
|
NM_000206.3(IL2RG):c.855-2A>C
|
rs2147746826
|
|
NM_000206.3(IL2RG):c.855-5G>A
|
|
|
NM_000206.3(IL2RG):c.855-5G>C
|
|
|
NM_000206.3(IL2RG):c.855-5G>T
|
|
|
NM_000206.3(IL2RG):c.855-7_855-6del
|
|
|
NM_000206.3(IL2RG):c.855-8C>G
|
|
|
NM_000206.3(IL2RG):c.865C>A (p.Arg289=)
|
rs137852508
|
|
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)
|
rs137852508
|
|
NM_000206.3(IL2RG):c.865dup (p.Arg289fs)
|
|
|
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln)
|
rs137852510
|
|
NM_000206.3(IL2RG):c.879del (p.Lys294fs)
|
|
|
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs)
|
rs1556329779
|
|
NM_000206.3(IL2RG):c.924+10C>G
|
rs2147746639
|
|
NM_000206.3(IL2RG):c.924+10C>T
|
|
|
NM_000206.3(IL2RG):c.924+12G>A
|
|
|
NM_000206.3(IL2RG):c.924+12G>T
|
|
|
NM_000206.3(IL2RG):c.924+8C>A
|
|
|
NM_000206.3(IL2RG):c.924+8C>G
|
rs776065933
|
|
NM_000206.3(IL2RG):c.924+8C>T
|
rs776065933
|
|
NM_000206.3(IL2RG):c.924G>A (p.Ser308=)
|
rs2092255386
|
|
NM_000206.3(IL2RG):c.925-8G>A
|
|
|
NM_000206.3(IL2RG):c.925-8G>C
|
rs1216156279
|
|
NM_000206.3(IL2RG):c.92A>T (p.Asn31Ile)
|
|
|
NM_000206.3(IL2RG):c.955G>A (p.Glu319Lys)
|
|
|
NM_000206.3(IL2RG):c.958_959del (p.Leu321fs)
|
rs1602288051
|
|
NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)
|
|
|
NM_000206.3(IL2RG):c.969A>T (p.Pro323=)
|
|
|
NM_000206.3(IL2RG):c.96G>T (p.Gly32=)
|
|
|
NM_000206.3(IL2RG):c.97A>G (p.Asn33Asp)
|
|
|
NM_000206.3(IL2RG):c.982C>A (p.Arg328=)
|
rs1064793347
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
NM_000206.3(IL2RG):c.990C>A (p.Cys330Ter)
|
|
|
NM_000206.3(IL2RG):c.993C>T (p.Leu331=)
|
rs2147745985
|
|
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.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.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.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=)
|
|
|
NM_000732.6(CD3D):c.108T>C (p.Asn36=)
|
|
|
NM_000732.6(CD3D):c.112A>G (p.Asn38Asp)
|
rs1346172061
|
|
NM_000732.6(CD3D):c.11G>A (p.Ser4Asn)
|
|
|
NM_000732.6(CD3D):c.126A>G (p.Thr42=)
|
rs1948290662
|
|
NM_000732.6(CD3D):c.128G>A (p.Trp43Ter)
|
rs1591278347
|
|
NM_000732.6(CD3D):c.138A>C (p.Gly46=)
|
|
|
NM_000732.6(CD3D):c.141G>A (p.Thr47=)
|
|
|
NM_000732.6(CD3D):c.156C>G (p.Leu52=)
|
rs751800253
|
|
NM_000732.6(CD3D):c.159A>T (p.Ser53=)
|
|
|
NM_000732.6(CD3D):c.15G>A (p.Thr5=)
|
rs747917280
|
|
NM_000732.6(CD3D):c.15del (p.Leu7fs)
|
|
|
NM_000732.6(CD3D):c.162C>T (p.Asp54=)
|
|
|
NM_000732.6(CD3D):c.163A>C (p.Ile55Leu)
|
rs1313114791
|
|
NM_000732.6(CD3D):c.167C>T (p.Thr56Ile)
|
rs201422803
|
|
NM_000732.6(CD3D):c.172C>T (p.Leu58=)
|
rs2134059883
|
|
NM_000732.6(CD3D):c.174G>A (p.Leu58=)
|
|
|
NM_000732.6(CD3D):c.189C>T (p.Arg63=)
|
rs1948289777
|
|
NM_000732.6(CD3D):c.18dup (p.Leu7fs)
|
|
|
NM_000732.6(CD3D):c.202C>G (p.Arg68Gly)
|
rs111033580
|
|
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter)
|
rs111033580
|
|
NM_000732.6(CD3D):c.211T>C (p.Tyr71His)
|
rs377725940
|
|
NM_000732.6(CD3D):c.213T>C (p.Tyr71=)
|
|
|
NM_000732.6(CD3D):c.222T>C (p.Asn74=)
|
|
|
NM_000732.6(CD3D):c.225G>A (p.Gly75=)
|
|
|
NM_000732.6(CD3D):c.233T>C (p.Ile78Thr)
|
|
|
NM_000732.6(CD3D):c.237C>G (p.Tyr79Ter)
|
|
|
NM_000732.6(CD3D):c.239A>G (p.Lys80Arg)
|
|
|
NM_000732.6(CD3D):c.244A>G (p.Lys82Glu)
|
rs1555119773
|
|
NM_000732.6(CD3D):c.247G>A (p.Glu83Lys)
|
rs201889742
|
|
NM_000732.6(CD3D):c.271C>T (p.Arg91Ter)
|
|
|
NM_000732.6(CD3D):c.274+15A>G
|
|
|
NM_000732.6(CD3D):c.274+16A>G
|
|
|
NM_000732.6(CD3D):c.274+18C>A
|
|
|
NM_000732.6(CD3D):c.274+20T>G
|
|
|
NM_000732.6(CD3D):c.274+2T>C
|
|
|
NM_000732.6(CD3D):c.275-13C>T
|
|
|
NM_000732.6(CD3D):c.275-19C>T
|
|
|
NM_000732.6(CD3D):c.275-9C>G
|
|
|
NM_000732.6(CD3D):c.275-9C>T
|
|
|
NM_000732.6(CD3D):c.278G>A (p.Cys93Tyr)
|
rs2134059424
|
|
NM_000732.6(CD3D):c.27C>T (p.Gly9=)
|
|
|
NM_000732.6(CD3D):c.285C>A (p.Ser95Arg)
|
rs1948285052
|
|
NM_000732.6(CD3D):c.300T>C (p.Asp100=)
|
|
|
NM_000732.6(CD3D):c.303A>G (p.Pro101=)
|
|
|
NM_000732.6(CD3D):c.30G>A (p.Leu10=)
|
|
|
NM_000732.6(CD3D):c.327C>T (p.Val109=)
|
|
|
NM_000732.6(CD3D):c.343A>C (p.Thr115Pro)
|
|
|
NM_000732.6(CD3D):c.344C>A (p.Thr115Asn)
|
|
|
NM_000732.6(CD3D):c.346C>T (p.Leu116=)
|
|
|
NM_000732.6(CD3D):c.351C>T (p.Leu117=)
|
|
|
NM_000732.6(CD3D):c.356C>A (p.Ala119Asp)
|
rs1948284280
|
|
NM_000732.6(CD3D):c.356C>T (p.Ala119Val)
|
rs1948284280
|
|
NM_000732.6(CD3D):c.373T>C (p.Phe125Leu)
|
rs554138504
|
|
NM_000732.6(CD3D):c.378T>C (p.Ala126=)
|
rs1237318986
|
|
NM_000732.6(CD3D):c.381A>C (p.Gly127=)
|
|
|
NM_000732.6(CD3D):c.382C>A (p.His128Asn)
|
rs534530743
|
|
NM_000732.6(CD3D):c.383A>T (p.His128Leu)
|
rs2134059318
|
|
NM_000732.6(CD3D):c.384T>C (p.His128=)
|
|
|
NM_000732.6(CD3D):c.396G>A (p.Arg132=)
|
|
|
NM_000732.6(CD3D):c.399G>C (p.Leu133=)
|
|
|
NM_000732.6(CD3D):c.403G>A (p.Gly135Arg)
|
rs1948283623
|
|
NM_000732.6(CD3D):c.404G>A (p.Gly135Glu)
|
|
|
NM_000732.6(CD3D):c.406+12A>G
|
|
|
NM_000732.6(CD3D):c.406+14C>A
|
|
|
NM_000732.6(CD3D):c.406+14C>T
|
|
|
NM_000732.6(CD3D):c.406+1G>T
|
|
|
NM_000732.6(CD3D):c.406+7G>A
|
|
|
NM_000732.6(CD3D):c.407-10G>A
|
|
|
NM_000732.6(CD3D):c.407-10G>T
|
|
|
NM_000732.6(CD3D):c.407-13C>G
|
|
|
NM_000732.6(CD3D):c.407-15C>T
|
rs2134058903
|
|
NM_000732.6(CD3D):c.407-17C>T
|
|
|
NM_000732.6(CD3D):c.407-18T>C
|
|
|
NM_000732.6(CD3D):c.407-19CT[3]
|
|
|
NM_000732.6(CD3D):c.407-1G>A
|
rs2134058885
|
|
NM_000732.6(CD3D):c.407-7C>T
|
|
|
NM_000732.6(CD3D):c.407C>G (p.Ala136Gly)
|
|
|
NM_000732.6(CD3D):c.40_41dup (p.Leu15fs)
|
|
|
NM_000732.6(CD3D):c.411C>A (p.Ala137=)
|
|
|
NM_000732.6(CD3D):c.418C>G (p.Gln140Glu)
|
rs201126605
|
|
NM_000732.6(CD3D):c.41C>G (p.Thr14Ser)
|
rs200847716
|
|
NM_000732.6(CD3D):c.430A>C (p.Arg144=)
|
|
|
NM_000732.6(CD3D):c.444C>G (p.Val148=)
|
|
|
NM_000732.6(CD3D):c.450+14G>T
|
rs768322685
|
|
NM_000732.6(CD3D):c.450+18G>A
|
|
|
NM_000732.6(CD3D):c.450+7G>A
|
|
|
NM_000732.6(CD3D):c.450+7G>T
|
rs201810356
|
|
NM_000732.6(CD3D):c.451-12C>T
|
|
|
NM_000732.6(CD3D):c.451-15C>T
|
rs2134058621
|
|
NM_000732.6(CD3D):c.451-18T>C
|
|
|
NM_000732.6(CD3D):c.451-7C>G
|
|
|
NM_000732.6(CD3D):c.451-8T>C
|
|
|
NM_000732.6(CD3D):c.451-9C>T
|
|
|
NM_000732.6(CD3D):c.451-9_451-7del
|
rs758585177
|
|
NM_000732.6(CD3D):c.457C>G (p.Arg153Gly)
|
rs201994476
|
|
NM_000732.6(CD3D):c.458G>A (p.Arg153Gln)
|
|
|
NM_000732.6(CD3D):c.465A>C (p.Arg155=)
|
|
|
NM_000732.6(CD3D):c.477G>A (p.Gln159=)
|
|
|
NM_000732.6(CD3D):c.480C>T (p.Tyr160=)
|
|
|
NM_000732.6(CD3D):c.485A>T (p.His162Leu)
|
rs1246867427
|
|
NM_000732.6(CD3D):c.486C>T (p.His162=)
|
|
|
NM_000732.6(CD3D):c.48C>T (p.Leu16=)
|
|
|
NM_000732.6(CD3D):c.491G>C (p.Gly164Ala)
|
rs2134058517
|
|
NM_000732.6(CD3D):c.51G>A (p.Ser17=)
|
|
|
NM_000732.6(CD3D):c.51G>C (p.Ser17=)
|
|
|
NM_000732.6(CD3D):c.51G>T (p.Ser17=)
|
rs371909040
|
|
NM_000732.6(CD3D):c.51_52del (p.Gln18fs)
|
rs1180673589
|
|
NM_000732.6(CD3D):c.55+16G>A
|
|
|
NM_000732.6(CD3D):c.55+20G>A
|
|
|
NM_000732.6(CD3D):c.55+20G>C
|
|
|
NM_000732.6(CD3D):c.55+20del
|
|
|
NM_000732.6(CD3D):c.55+8T>G
|
|
|
NM_000732.6(CD3D):c.56-10del
|
rs1264668031
|
|
NM_000732.6(CD3D):c.56-15T>C
|
|
|
NM_000732.6(CD3D):c.56-16A>G
|
|
|
NM_000732.6(CD3D):c.56-7C>T
|
rs2134060049
|
|
NM_000732.6(CD3D):c.60C>G (p.Ser20Arg)
|
rs529268621
|
|
NM_000732.6(CD3D):c.84A>G (p.Glu28=)
|
|
|
NM_000732.6(CD3D):c.9_10del (p.His3fs)
|
|
|
NM_000733.4(CD3E):c.103+14T>A
|
|
|
NM_000733.4(CD3E):c.103+1G>A
|
rs201543770
|
|
NM_000733.4(CD3E):c.103+1G>T
|
rs201543770
|
|
NM_000733.4(CD3E):c.103+8T>C
|
|
|
NM_000733.4(CD3E):c.104-12C>A
|
|
|
NM_000733.4(CD3E):c.104-18T>C
|
|
|
NM_000733.4(CD3E):c.104-6C>T
|
|
|
NM_000733.4(CD3E):c.119T>C (p.Ile40Thr)
|
rs2134766495
|
|
NM_000733.4(CD3E):c.131_132del (p.Thr44fs)
|
|
|
NM_000733.4(CD3E):c.147C>T (p.Cys49=)
|
|
|
NM_000733.4(CD3E):c.15T>C (p.Thr5=)
|
|
|
NM_000733.4(CD3E):c.15T>G (p.Thr5=)
|
|
|
NM_000733.4(CD3E):c.171A>C (p.Ile57=)
|
|
|
NM_000733.4(CD3E):c.17A>C (p.His6Pro)
|
rs1009249314
|
|
NM_000733.4(CD3E):c.189T>C (p.Asp63=)
|
|
|
NM_000733.4(CD3E):c.190A>T (p.Lys64Ter)
|
|
|
NM_000733.4(CD3E):c.201C>T (p.Gly67=)
|
|
|
NM_000733.4(CD3E):c.202_228del (p.Gly68_Gly76del)
|
rs758638097
|
|
NM_000733.4(CD3E):c.202_228dup (p.Gly68_Gly76dup)
|
rs758638097
|
|
NM_000733.4(CD3E):c.210G>A (p.Glu70=)
|
|
|
NM_000733.4(CD3E):c.211G>A (p.Asp71Asn)
|
rs148647954
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
NM_000733.4(CD3E):c.221A>C (p.Asn74Thr)
|
rs1948142751
|
|
NM_000733.4(CD3E):c.234T>C (p.Asp78=)
|
|
|
NM_000733.4(CD3E):c.239A>C (p.Asp80Ala)
|
rs2134766737
|
|
NM_000733.4(CD3E):c.258A>G (p.Glu86=)
|
|
|
NM_000733.4(CD3E):c.261_262del (p.Ser88fs)
|
rs1249197356
|
|
NM_000733.4(CD3E):c.268T>C (p.Leu90=)
|
|
|
NM_000733.4(CD3E):c.282T>G (p.Gly94=)
|
|
|
NM_000733.4(CD3E):c.285T>C (p.Tyr95=)
|
|
|
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
|
|
|
NM_000733.4(CD3E):c.288T>C (p.Tyr96=)
|
|
|
NM_000733.4(CD3E):c.292T>C (p.Cys98Arg)
|
rs1948143376
|
|
NM_000733.4(CD3E):c.298C>A (p.Pro100Thr)
|
rs201369123
|
|
NM_000733.4(CD3E):c.30G>A (p.Leu10=)
|
|
|
NM_000733.4(CD3E):c.30G>T (p.Leu10=)
|
|
|
NM_000733.4(CD3E):c.313C>A (p.Pro105Thr)
|
rs1258864566
|
|
NM_000733.4(CD3E):c.323C>A (p.Ala108Glu)
|
rs35299792
|
|
NM_000733.4(CD3E):c.324G>T (p.Ala108=)
|
|
|
NM_000733.4(CD3E):c.342G>C (p.Leu114=)
|
|
|
NM_000733.4(CD3E):c.352+14C>T
|
|
|
NM_000733.4(CD3E):c.352+9G>A
|
rs1255695253
|
|
NM_000733.4(CD3E):c.353-11_353-7del
|
|
|
NM_000733.4(CD3E):c.353-12C>T
|
|
|
NM_000733.4(CD3E):c.353-15C>A
|
|
|
NM_000733.4(CD3E):c.353-15C>T
|
|
|
NM_000733.4(CD3E):c.353-1G>A
|
|
|
NM_000733.4(CD3E):c.353-4A>G
|
|
|
NM_000733.4(CD3E):c.353-4dup
|
|
|
NM_000733.4(CD3E):c.353-5C>A
|
rs374456909
|
|
NM_000733.4(CD3E):c.353-5C>G
|
|
|
NM_000733.4(CD3E):c.353-5C>T
|
rs374456909
|
|
NM_000733.4(CD3E):c.353-5del
|
|
|
NM_000733.4(CD3E):c.353-6C>A
|
|
|
NM_000733.4(CD3E):c.353-6C>G
|
|
|
NM_000733.4(CD3E):c.353-6C>T
|
rs772687199
|
|
NM_000733.4(CD3E):c.353-9C>T
|
|
|
NM_000733.4(CD3E):c.360G>A (p.Glu120=)
|
|
|
NM_000733.4(CD3E):c.360G>C (p.Glu120Asp)
|
rs1361788582
|
|
NM_000733.4(CD3E):c.39C>T (p.Cys13=)
|
|
|
NM_000733.4(CD3E):c.409G>T (p.Asp137Tyr)
|
rs2134767843
|
|
NM_000733.4(CD3E):c.417C>T (p.Cys139=)
|
|
|
NM_000733.4(CD3E):c.420C>T (p.Ile140=)
|
|
|
NM_000733.4(CD3E):c.424G>C (p.Gly142Arg)
|
rs2134767860
|
|
NM_000733.4(CD3E):c.428del (p.Gly143fs)
|
|
|
NM_000733.4(CD3E):c.429C>A (p.Gly143=)
|
|
|
NM_000733.4(CD3E):c.42C>T (p.Leu14=)
|
|
|
NM_000733.4(CD3E):c.435G>A (p.Leu145=)
|
|
|
NM_000733.4(CD3E):c.436C>T (p.Leu146=)
|
|
|
NM_000733.4(CD3E):c.439C>G (p.Leu147Val)
|
rs748959958
|
|
NM_000733.4(CD3E):c.468G>A (p.Lys156=)
|
|
|
NM_000733.4(CD3E):c.469G>T (p.Ala157Ser)
|
rs1344416489
|
|
NM_000733.4(CD3E):c.472A>T (p.Lys158Ter)
|
|
|
NM_000733.4(CD3E):c.475G>T (p.Ala159Ser)
|
|
|
NM_000733.4(CD3E):c.481C>G (p.Pro161Ala)
|
|
|
NM_000733.4(CD3E):c.49+14A>G
|
|
|
NM_000733.4(CD3E):c.49+1G>A
|
|
|
NM_000733.4(CD3E):c.49+1G>C
|
|
|
NM_000733.4(CD3E):c.49+8G>A
|
|
|
NM_000733.4(CD3E):c.490C>A (p.Arg164=)
|
|
|
NM_000733.4(CD3E):c.490C>G (p.Arg164Gly)
|
|
|
NM_000733.4(CD3E):c.495A>G (p.Gly165=)
|
rs2134767983
|
|
NM_000733.4(CD3E):c.498G>C (p.Ala166=)
|
|
|
NM_000733.4(CD3E):c.50-10del
|
|
|
NM_000733.4(CD3E):c.50-17T>C
|
|
|
NM_000733.4(CD3E):c.50-4C>T
|
|
|
NM_000733.4(CD3E):c.50-7T>G
|
|
|
NM_000733.4(CD3E):c.504T>G (p.Ala168=)
|
|
|
NM_000733.4(CD3E):c.507C>A (p.Gly169=)
|
rs2231447
|
|
NM_000733.4(CD3E):c.508G>A (p.Gly170Ser)
|
rs199578380
|
|
NM_000733.4(CD3E):c.517A>C (p.Arg173=)
|
|
|
NM_000733.4(CD3E):c.51T>G (p.Val17=)
|
rs1591267192
|
|
NM_000733.4(CD3E):c.520+10T>C
|
|
|
NM_000733.4(CD3E):c.520+17C>T
|
|
|
NM_000733.4(CD3E):c.520+19G>C
|
|
|
NM_000733.4(CD3E):c.520+1G>A
|
|
|
NM_000733.4(CD3E):c.520+20T>C
|
|
|
NM_000733.4(CD3E):c.520+2T>C
|
rs483352928
|
|
NM_000733.4(CD3E):c.521-10T>A
|
|
|
NM_000733.4(CD3E):c.521-13C>T
|
|
|
NM_000733.4(CD3E):c.521-15del
|
rs2134768659
|
|
NM_000733.4(CD3E):c.521-19T>C
|
|
|
NM_000733.4(CD3E):c.521-4G>A
|
|
|
NM_000733.4(CD3E):c.521-4G>T
|
|
|
NM_000733.4(CD3E):c.521-5C>T
|
|
|
NM_000733.4(CD3E):c.521-9C>G
|
|
|
NM_000733.4(CD3E):c.521-9C>T
|
|
|
NM_000733.4(CD3E):c.530del (p.Lys177fs)
|
rs745496161
|
|
NM_000733.4(CD3E):c.542C>G (p.Pro181Arg)
|
rs2134768706
|
|
NM_000733.4(CD3E):c.567+12T>C
|
rs1948154648
|
|
NM_000733.4(CD3E):c.567+14G>A
|
rs1439294225
|
|
NM_000733.4(CD3E):c.567+18T>A
|
|
|
NM_000733.4(CD3E):c.567+7T>C
|
|
|
NM_000733.4(CD3E):c.567+8G>T
|
|
|
NM_000733.4(CD3E):c.568-11_568-10del
|
rs764127460
|
|
NM_000733.4(CD3E):c.568-14T>C
|
|
|
NM_000733.4(CD3E):c.568-16T>G
|
|
|
NM_000733.4(CD3E):c.568-17_568-14del
|
|
|
NM_000733.4(CD3E):c.568-3dup
|
|
|
NM_000733.4(CD3E):c.568-6C>G
|
|
|
NM_000733.4(CD3E):c.568-7C>A
|
|
|
NM_000733.4(CD3E):c.568-9C>T
|
|
|
NM_000733.4(CD3E):c.575G>C (p.Arg192Pro)
|
|
|
NM_000733.4(CD3E):c.585G>A (p.Gln195=)
|
|
|
NM_000733.4(CD3E):c.586C>A (p.Arg196=)
|
|
|
NM_000733.4(CD3E):c.587G>A (p.Arg196Gln)
|
|
|
NM_000733.4(CD3E):c.58T>G (p.Trp20Gly)
|
|
|
NM_000733.4(CD3E):c.592C>T (p.Leu198=)
|
|
|
NM_000733.4(CD3E):c.59G>T (p.Trp20Leu)
|
rs914391006
|
|
NM_000733.4(CD3E):c.603C>T (p.Gly201=)
|
rs2134769949
|
|
NM_000733.4(CD3E):c.623G>A (p.Ter208=)
|
|
|
NM_000733.4(CD3E):c.63G>A (p.Gly21=)
|
|
|
NM_000733.4(CD3E):c.70+10G>A
|
|
|
NM_000733.4(CD3E):c.70+11C>T
|
|
|
NM_000733.4(CD3E):c.70+11CTTT[3]
|
|
|
NM_000733.4(CD3E):c.70+14T>G
|
|
|
NM_000733.4(CD3E):c.70+15C>T
|
|
|
NM_000733.4(CD3E):c.71-10T>C
|
|
|
NM_000733.4(CD3E):c.71-11T>C
|
|
|
NM_000733.4(CD3E):c.71-17T>A
|
|
|
NM_000733.4(CD3E):c.71-8C>T
|
|
|
NM_000733.4(CD3E):c.71G>T (p.Gly24Val)
|
|
|
NM_000733.4(CD3E):c.85+13C>T
|
|
|
NM_000733.4(CD3E):c.85+16_85+24dup
|
|
|
NM_000733.4(CD3E):c.85+20A>C
|
|
|
NM_000733.4(CD3E):c.85+4A>G
|
rs2134762623
|
|
NM_000733.4(CD3E):c.86-10dup
|
|
|
NM_000733.4(CD3E):c.86-15T>C
|
|
|
NM_000733.4(CD3E):c.86-7T>C
|
|
|
NM_000733.4(CD3E):c.86-8A>G
|
|
|
NM_000733.4(CD3E):c.89G>C (p.Gly30Ala)
|
|
|
NM_000733.4(CD3E):c.99G>C (p.Gln33His)
|
rs1948139036
|
|
NM_000733.4(CD3E):c.9G>A (p.Ser3=)
|
rs776010793
|
|
NM_002185.5(IL7R):c.1008G>A (p.Glu336=)
|
rs1760201516
|
|
NM_002185.5(IL7R):c.1014G>C (p.Gln338His)
|
rs1760201906
|
|
NM_002185.5(IL7R):c.1020_1043del (p.Gly341_Asn348del)
|
rs2149905482
|
|
NM_002185.5(IL7R):c.1029T>C (p.Asp343=)
|
rs2149905510
|
|
NM_002185.5(IL7R):c.102A>G (p.Glu34=)
|
|
|
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr)
|
rs41270321
|
|
NM_002185.5(IL7R):c.1043A>G (p.Asn348Ser)
|
rs41270321
|
|
NM_002185.5(IL7R):c.1046G>C (p.Cys349Ser)
|
|
|
NM_002185.5(IL7R):c.1046G>T (p.Cys349Phe)
|
rs200927791
|
|
NM_002185.5(IL7R):c.1050A>G (p.Pro350=)
|
|
|
NM_002185.5(IL7R):c.1051T>C (p.Ser351Pro)
|
rs1760204380
|
|
NM_002185.5(IL7R):c.1056G>A (p.Glu352=)
|
rs1760204486
|
|
NM_002185.5(IL7R):c.1065_1066inv (p.Ile356Val)
|
|
|
NM_002185.5(IL7R):c.1080C>A (p.Ser360Arg)
|
rs1760205911
|
|
NM_002185.5(IL7R):c.1082T>A (p.Phe361Tyr)
|
|
|
NM_002185.5(IL7R):c.1082T>C (p.Phe361Ser)
|
rs200061456
|
|
NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu)
|
rs201216012
|
|
NM_002185.5(IL7R):c.1097C>A (p.Ser366Tyr)
|
|
|
NM_002185.5(IL7R):c.1097C>T (p.Ser366Phe)
|
|
|
NM_002185.5(IL7R):c.10C>T (p.Leu4=)
|
|
|
NM_002185.5(IL7R):c.1106G>A (p.Cys369Tyr)
|
rs758381888
|
|
NM_002185.5(IL7R):c.1106G>T (p.Cys369Phe)
|
|
|
NM_002185.5(IL7R):c.1107C>T (p.Cys369=)
|
|
|
NM_002185.5(IL7R):c.1108C>T (p.Leu370=)
|
rs1760207150
|
|
NM_002185.5(IL7R):c.1114G>A (p.Gly372Arg)
|
|
|
NM_002185.5(IL7R):c.1125T>C (p.Ser375=)
|
rs1580864691
|
|
NM_002185.5(IL7R):c.1134C>G (p.Asp378Glu)
|
rs150593442
|
|
NM_002185.5(IL7R):c.1134C>T (p.Asp378=)
|
|
|
NM_002185.5(IL7R):c.1137C>A (p.Ala379=)
|
|
|
NM_002185.5(IL7R):c.1137C>T (p.Ala379=)
|
rs1474294679
|
|
NM_002185.5(IL7R):c.1143T>A (p.Ile381=)
|
|
|
NM_002185.5(IL7R):c.1161C>T (p.Ser387=)
|
|
|
NM_002185.5(IL7R):c.1164A>G (p.Leu388=)
|
|
|
NM_002185.5(IL7R):c.1176G>A (p.Glu392=)
|
|
|
NM_002185.5(IL7R):c.117A>T (p.Ser39=)
|
|
|
NM_002185.5(IL7R):c.1180G>A (p.Gly394Ser)
|
rs1230012813
|
|
NM_002185.5(IL7R):c.1191G>C (p.Gly397=)
|
|
|
NM_002185.5(IL7R):c.11T>C (p.Leu4Pro)
|
|
|
NM_002185.5(IL7R):c.1207G>A (p.Asp403Asn)
|
rs1760214751
|
|
NM_002185.5(IL7R):c.1212C>T (p.Leu404=)
|
|
|
NM_002185.5(IL7R):c.1213C>T (p.Leu405=)
|
|
|
NM_002185.5(IL7R):c.1221C>T (p.Ser407=)
|
rs267600610
|
|
NM_002185.5(IL7R):c.1232C>A (p.Thr411Lys)
|
rs1760216117
|
|
NM_002185.5(IL7R):c.1242G>A (p.Thr414=)
|
|
|
NM_002185.5(IL7R):c.1242G>T (p.Thr414=)
|
rs755492743
|
|
NM_002185.5(IL7R):c.1243C>T (p.Leu415=)
|
|
|
NM_002185.5(IL7R):c.1245G>A (p.Leu415=)
|
|
|
NM_002185.5(IL7R):c.1245G>C (p.Leu415=)
|
|
|
NM_002185.5(IL7R):c.1246C>A (p.Pro416Thr)
|
rs2149906130
|
|
NM_002185.5(IL7R):c.1248C>A (p.Pro416=)
|
|
|
NM_002185.5(IL7R):c.1250C>T (p.Pro417Leu)
|
rs201661275
|
|
NM_002185.5(IL7R):c.1252C>G (p.Pro418Ala)
|
|
|
NM_002185.5(IL7R):c.1256T>C (p.Phe419Ser)
|
|
|
NM_002185.5(IL7R):c.1263C>G (p.Leu421=)
|
|
|
NM_002185.5(IL7R):c.126C>G (p.Cys42Trp)
|
rs1759788196
|
|
NM_002185.5(IL7R):c.1272A>G (p.Gly424=)
|
|
|
NM_002185.5(IL7R):c.1281A>G (p.Thr427=)
|
|
|
NM_002185.5(IL7R):c.128A>G (p.Tyr43Cys)
|
|
|
NM_002185.5(IL7R):c.129T>C (p.Tyr43=)
|
|
|
NM_002185.5(IL7R):c.1308C>T (p.Pro436=)
|
|
|
NM_002185.5(IL7R):c.1334AAG[2] (p.Glu447del)
|
|
|
NM_002185.5(IL7R):c.1335A>G (p.Gln445=)
|
|
|
NM_002185.5(IL7R):c.135G>C (p.Gln45His)
|
rs200464578
|
|
NM_002185.5(IL7R):c.1367A>G (p.Tyr456Cys)
|
rs1580865092
|
|
NM_002185.5(IL7R):c.1368C>T (p.Tyr456=)
|
|
|
NM_002185.5(IL7R):c.1372A>T (p.Asn458Tyr)
|
|
|
NM_002185.5(IL7R):c.1374C>T (p.Asn458=)
|
|
|
NM_002185.5(IL7R):c.1377G>A (p.Gln459=)
|
|
|
NM_002185.5(IL7R):c.141A>G (p.Glu47=)
|
|
|
NM_002185.5(IL7R):c.145A>G (p.Asn49Asp)
|
|
|
NM_002185.5(IL7R):c.156_157delinsTT (p.Gln52_His53delinsHisTyr)
|
rs1580851810
|
|
NM_002185.5(IL7R):c.169T>C (p.Cys57Arg)
|
rs1759791006
|
|
NM_002185.5(IL7R):c.16A>G (p.Thr6Ala)
|
rs1580848036
|
|
NM_002185.5(IL7R):c.177del (p.Phe59fs)
|
|
|
NM_002185.5(IL7R):c.183C>T (p.Asp61=)
|
|
|
NM_002185.5(IL7R):c.190_193dup (p.Asn65fs)
|
|
|
NM_002185.5(IL7R):c.197_198delinsCT (p.Ile66Thr)
|
rs2149895738
|
|
NM_002185.5(IL7R):c.214G>T (p.Glu72Ter)
|
|
|
NM_002185.5(IL7R):c.221+12_221+13del
|
|
|
NM_002185.5(IL7R):c.221+7G>A
|
rs200937717
|
|
NM_002185.5(IL7R):c.221+9T>C
|
|
|
NM_002185.5(IL7R):c.222-18C>G
|
|
|
NM_002185.5(IL7R):c.222-20T>A
|
|
|
NM_002185.5(IL7R):c.222-5T>C
|
|
|
NM_002185.5(IL7R):c.222-6C>T
|
|
|
NM_002185.5(IL7R):c.227C>A (p.Ala76Asp)
|
rs755030275
|
|
NM_002185.5(IL7R):c.227C>T (p.Ala76Val)
|
|
|
NM_002185.5(IL7R):c.228C>T (p.Ala76=)
|
rs2149899076
|
|
NM_002185.5(IL7R):c.231C>T (p.Leu77=)
|
|
|
NM_002185.5(IL7R):c.233T>C (p.Val78Ala)
|
rs1301073730
|
|
NM_002185.5(IL7R):c.236A>T (p.Glu79Val)
|
|
|
NM_002185.5(IL7R):c.243G>A (p.Lys81=)
|
|
|
NM_002185.5(IL7R):c.246C>T (p.Cys82=)
|
|
|
NM_002185.5(IL7R):c.251A>G (p.Asn84Ser)
|
rs1759963721
|
|
NM_002185.5(IL7R):c.26G>C (p.Gly9Ala)
|
|
|
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)
|
rs193922640
|
|
NM_002185.5(IL7R):c.273A>G (p.Ile91Met)
|
|
|
NM_002185.5(IL7R):c.276T>C (p.Tyr92=)
|
|
|
NM_002185.5(IL7R):c.282C>T (p.Ile94=)
|
rs778067695
|
|
NM_002185.5(IL7R):c.285G>A (p.Glu95=)
|
rs2149899149
|
|
NM_002185.5(IL7R):c.288A>C (p.Thr96=)
|
rs2149899154
|
|
NM_002185.5(IL7R):c.291_294del (p.Lys97fs)
|
rs1554066684
|
|
NM_002185.5(IL7R):c.298T>C (p.Leu100=)
|
|
|
NM_002185.5(IL7R):c.301C>T (p.Leu101=)
|
|
|
NM_002185.5(IL7R):c.306T>C (p.Ile102=)
|
|
|
NM_002185.5(IL7R):c.307G>A (p.Gly103Arg)
|
rs201106853
|
|
NM_002185.5(IL7R):c.315C>T (p.Ser105=)
|
|
|
NM_002185.5(IL7R):c.318T>C (p.Asn106=)
|
|
|
NM_002185.5(IL7R):c.32T>G (p.Val11Gly)
|
|
|
NM_002185.5(IL7R):c.336A>G (p.Gly112=)
|
|
|
NM_002185.5(IL7R):c.350C>G (p.Thr117Ser)
|
|
|
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)
|
rs1448018291
|
|
NM_002185.5(IL7R):c.359A>T (p.Lys120Ile)
|
rs201710684
|
|
NM_002185.5(IL7R):c.361dup (p.Ile121fs)
|
rs869312857
|
|
NM_002185.5(IL7R):c.363A>C (p.Ile121=)
|
|
|
NM_002185.5(IL7R):c.364G>C (p.Asp122His)
|
|
|
NM_002185.5(IL7R):c.369A>C (p.Leu123=)
|
|
|
NM_002185.5(IL7R):c.376A>C (p.Ile126Leu)
|
rs201207454
|
|
NM_002185.5(IL7R):c.379+10T>C
|
|
|
NM_002185.5(IL7R):c.379+12T>C
|
|
|
NM_002185.5(IL7R):c.379+13A>G
|
|
|
NM_002185.5(IL7R):c.379+14T>C
|
|
|
NM_002185.5(IL7R):c.379+16T>A
|
|
|
NM_002185.5(IL7R):c.379+304_379+322del
|
|
|
NM_002185.5(IL7R):c.379+8G>C
|
rs111370546
|
|
NM_002185.5(IL7R):c.37del (p.Ser13fs)
|
rs1759660930
|
|
NM_002185.5(IL7R):c.380-14T>C
|
|
|
NM_002185.5(IL7R):c.380-15C>A
|
rs2149901519
|
|
NM_002185.5(IL7R):c.380-18T>A
|
|
|
NM_002185.5(IL7R):c.380-19A>C
|
|
|
NM_002185.5(IL7R):c.380-19A>G
|
|
|
NM_002185.5(IL7R):c.380-20T>C
|
|
|
NM_002185.5(IL7R):c.380-4C>G
|
|
|
NM_002185.5(IL7R):c.380T>G (p.Val127Gly)
|
rs751109965
|
|
NM_002185.5(IL7R):c.392C>T (p.Ala131Val)
|
rs1760061386
|
|
NM_002185.5(IL7R):c.402C>T (p.Asp134=)
|
|
|
NM_002185.5(IL7R):c.405G>A (p.Leu135=)
|
|
|
NM_002185.5(IL7R):c.416A>G (p.Tyr139Cys)
|
|
|
NM_002185.5(IL7R):c.419G>C (p.Arg140Pro)
|
rs200373233
|
|
NM_002185.5(IL7R):c.432T>C (p.Asn144=)
|
|
|
NM_002185.5(IL7R):c.437_438del (p.Phe146fs)
|
rs1561423197
|
|
NM_002185.5(IL7R):c.441G>A (p.Val147=)
|
|
|
NM_002185.5(IL7R):c.442G>A (p.Val148Met)
|
rs200332345
|
|
NM_002185.5(IL7R):c.456A>T (p.Thr152=)
|
|
|
NM_002185.5(IL7R):c.466C>T (p.Gln156Ter)
|
|
|
NM_002185.5(IL7R):c.473A>G (p.Lys158Arg)
|
|
|
NM_002185.5(IL7R):c.478G>A (p.Val160Ile)
|
rs1760065433
|
|
NM_002185.5(IL7R):c.479T>C (p.Val160Ala)
|
rs1393735942
|
|
NM_002185.5(IL7R):c.490A>T (p.Met164Leu)
|
|
|
NM_002185.5(IL7R):c.491T>A (p.Met164Lys)
|
rs771957502
|
|
NM_002185.5(IL7R):c.493del (p.His165fs)
|
|
|
NM_002185.5(IL7R):c.498T>A (p.Asp166Glu)
|
rs1368629105
|
|
NM_002185.5(IL7R):c.501A>T (p.Val167=)
|
|
|
NM_002185.5(IL7R):c.512A>C (p.Gln171Pro)
|
rs531875566
|
|
NM_002185.5(IL7R):c.514del (p.Glu172fs)
|
rs1225034187
|
|
NM_002185.5(IL7R):c.517A>C (p.Lys173Gln)
|
rs749945425
|
|
NM_002185.5(IL7R):c.51C>A (p.Val17=)
|
|
|
NM_002185.5(IL7R):c.51C>T (p.Val17=)
|
rs138981776
|
|
NM_002185.5(IL7R):c.522T>C (p.Asp174=)
|
|
|
NM_002185.5(IL7R):c.536C>T (p.Thr179Met)
|
|
|
NM_002185.5(IL7R):c.537+11C>G
|
|
|
NM_002185.5(IL7R):c.537+15T>G
|
|
|
NM_002185.5(IL7R):c.537+18A>G
|
|
|
NM_002185.5(IL7R):c.537+1G>A
|
rs777878144
|
|
NM_002185.5(IL7R):c.537+6T>C
|
rs1760068715
|
|
NM_002185.5(IL7R):c.537+7A>G
|
|
|
NM_002185.5(IL7R):c.537+7A>T
|
rs746163082
|
|
NM_002185.5(IL7R):c.538-10T>C
|
|
|
NM_002185.5(IL7R):c.538-11C>G
|
|
|
NM_002185.5(IL7R):c.538-11C>T
|
|
|
NM_002185.5(IL7R):c.538-13C>T
|
|
|
NM_002185.5(IL7R):c.538-17T>G
|
|
|
NM_002185.5(IL7R):c.538-2A>G
|
|
|
NM_002185.5(IL7R):c.538-4C>G
|
|
|
NM_002185.5(IL7R):c.552C>G (p.Ser184=)
|
|
|
NM_002185.5(IL7R):c.562C>T (p.Leu188=)
|
|
|
NM_002185.5(IL7R):c.562del (p.Lys187_Leu188insTer)
|
|
|
NM_002185.5(IL7R):c.565A>G (p.Thr189Ala)
|
rs2149903315
|
|
NM_002185.5(IL7R):c.570C>G (p.Leu190=)
|
|
|
NM_002185.5(IL7R):c.582G>A (p.Lys194=)
|
|
|
NM_002185.5(IL7R):c.585C>T (p.Leu195=)
|
|
|
NM_002185.5(IL7R):c.589_598del (p.Pro197fs)
|
|
|
NM_002185.5(IL7R):c.590C>A (p.Pro197Gln)
|
|
|
NM_002185.5(IL7R):c.591G>A (p.Pro197=)
|
|
|
NM_002185.5(IL7R):c.59G>A (p.Gly20Glu)
|
rs1759663249
|
|
NM_002185.5(IL7R):c.600G>A (p.Met200Ile)
|
rs754172661
|
|
NM_002185.5(IL7R):c.618A>G (p.Arg206=)
|
rs755300062
|
|
NM_002185.5(IL7R):c.623del (p.Ile208fs)
|
|
|
NM_002185.5(IL7R):c.628G>A (p.Asp210Asn)
|
|
|
NM_002185.5(IL7R):c.633C>T (p.His211=)
|
|
|
NM_002185.5(IL7R):c.634T>C (p.Tyr212His)
|
rs1760127712
|
|
NM_002185.5(IL7R):c.639_640insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTGATCACTATTTT (p.Lys214delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_002185.5(IL7R):c.644G>T (p.Gly215Val)
|
rs193922645
|
|
NM_002185.5(IL7R):c.651G>A (p.Trp217Ter)
|
rs104893893
|
|
NM_002185.5(IL7R):c.657A>G (p.Glu219=)
|
|
|
NM_002185.5(IL7R):c.668G>T (p.Ser223Ile)
|
rs2149903454
|
|
NM_002185.5(IL7R):c.66T>C (p.Ser22=)
|
|
|
NM_002185.5(IL7R):c.699T>C (p.Asn233=)
|
|
|
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)
|
rs766555082
|
|
NM_002185.5(IL7R):c.706+18A>G
|
|
|
NM_002185.5(IL7R):c.706+19G>C
|
|
|
NM_002185.5(IL7R):c.706+5G>C
|
rs181084023
|
|
NM_002185.5(IL7R):c.706+9T>C
|
|
|
NM_002185.5(IL7R):c.706G>C (p.Gly236Arg)
|
rs2149903496
|
|
NM_002185.5(IL7R):c.707-14T>A
|
|
|
NM_002185.5(IL7R):c.707-8C>T
|
rs2149903979
|
|
NM_002185.5(IL7R):c.711G>A (p.Glu237=)
|
|
|
NM_002185.5(IL7R):c.714G>A (p.Met238Ile)
|
rs1057520828
|
|
NM_002185.5(IL7R):c.717T>C (p.Asp239=)
|
|
|
NM_002185.5(IL7R):c.719C>T (p.Pro240Leu)
|
rs1760154761
|
|
NM_002185.5(IL7R):c.732C>T (p.Thr244=)
|
|
|
NM_002185.5(IL7R):c.735C>T (p.Ile245=)
|
|
|
NM_002185.5(IL7R):c.737G>A (p.Ser246Asn)
|
rs779397627
|
|
NM_002185.5(IL7R):c.748T>G (p.Phe250Val)
|
rs1000207637
|
|
NM_002185.5(IL7R):c.752del (p.Phe251fs)
|
|
|
NM_002185.5(IL7R):c.753dup (p.Ser252fs)
|
rs1554067182
|
|
NM_002185.5(IL7R):c.762T>A (p.Ala254=)
|
|
|
NM_002185.5(IL7R):c.76C>T (p.Gln26Ter)
|
|
|
NM_002185.5(IL7R):c.780C>A (p.Ala260=)
|
|
|
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
|
|
|
NM_002185.5(IL7R):c.798A>G (p.Lys266=)
|
|
|
NM_002185.5(IL7R):c.799A>C (p.Arg267=)
|
rs764528268
|
|
NM_002185.5(IL7R):c.800+10T>A
|
|
|
NM_002185.5(IL7R):c.800+10T>G
|
rs202114203
|
|
NM_002185.5(IL7R):c.800+11T>C
|
|
|
NM_002185.5(IL7R):c.800+17A>T
|
|
|
NM_002185.5(IL7R):c.800+20A>C
|
|
|
NM_002185.5(IL7R):c.800+5C>A
|
|
|
NM_002185.5(IL7R):c.801-13T>C
|
|
|
NM_002185.5(IL7R):c.801-14T>C
|
|
|
NM_002185.5(IL7R):c.801-17A>G
|
|
|
NM_002185.5(IL7R):c.807G>A (p.Lys269=)
|
|
|
NM_002185.5(IL7R):c.80del (p.Asn27fs)
|
|
|
NM_002185.5(IL7R):c.813C>T (p.Ile271=)
|
|
|
NM_002185.5(IL7R):c.82+10T>G
|
|
|
NM_002185.5(IL7R):c.82+11T>C
|
|
|
NM_002185.5(IL7R):c.82+14A>C
|
|
|
NM_002185.5(IL7R):c.82+14A>T
|
|
|
NM_002185.5(IL7R):c.82+3del
|
rs770563855
|
|
NM_002185.5(IL7R):c.82+8A>G
|
|
|
NM_002185.5(IL7R):c.828C>T (p.Leu276=)
|
|
|
NM_002185.5(IL7R):c.83-12G>C
|
|
|
NM_002185.5(IL7R):c.83-16G>A
|
|
|
NM_002185.5(IL7R):c.83-20G>T
|
|
|
NM_002185.5(IL7R):c.83-3C>T
|
rs1759786514
|
|
NM_002185.5(IL7R):c.83-6C>T
|
|
|
NM_002185.5(IL7R):c.83-9C>T
|
|
|
NM_002185.5(IL7R):c.831C>A (p.Pro277=)
|
|
|
NM_002185.5(IL7R):c.831C>T (p.Pro277=)
|
rs766895607
|
|
NM_002185.5(IL7R):c.832G>A (p.Asp278Asn)
|
|
|
NM_002185.5(IL7R):c.853C>A (p.His285Asn)
|
rs1022245698
|
|
NM_002185.5(IL7R):c.854A>G (p.His285Arg)
|
rs2149904828
|
|
NM_002185.5(IL7R):c.861T>C (p.Cys287=)
|
|
|
NM_002185.5(IL7R):c.864G>A (p.Lys288=)
|
rs2149904834
|
|
NM_002185.5(IL7R):c.876+11T>C
|
|
|
NM_002185.5(IL7R):c.876+12del
|
|
|
NM_002185.5(IL7R):c.876+12dup
|
|
|
NM_002185.5(IL7R):c.876+14G>T
|
|
|
NM_002185.5(IL7R):c.876+3_876+10dup
|
rs768950875
|
|
NM_002185.5(IL7R):c.876+8T>G
|
|
|
NM_002185.5(IL7R):c.877-10T>G
|
|
|
NM_002185.5(IL7R):c.877-13T>C
|
|
|
NM_002185.5(IL7R):c.877-15C>G
|
|
|
NM_002185.5(IL7R):c.877-15C>T
|
|
|
NM_002185.5(IL7R):c.877-17C>A
|
|
|
NM_002185.5(IL7R):c.877-1G>A
|
rs1760195478
|
|
NM_002185.5(IL7R):c.877-6G>A
|
|
|
NM_002185.5(IL7R):c.87C>T (p.Asp29=)
|
|
|
NM_002185.5(IL7R):c.882A>C (p.Leu294Phe)
|
rs193922647
|
|
NM_002185.5(IL7R):c.885T>C (p.Asn295=)
|
|
|
NM_002185.5(IL7R):c.898_902del (p.Pro300fs)
|
|
|
NM_002185.5(IL7R):c.912G>C (p.Leu304=)
|
|
|
NM_002185.5(IL7R):c.916T>A (p.Cys306Ser)
|
rs748055663
|
|
NM_002185.5(IL7R):c.917G>A (p.Cys306Tyr)
|
rs1056726866
|
|
NM_002185.5(IL7R):c.933G>A (p.Val311=)
|
rs1760197729
|
|
NM_002185.5(IL7R):c.936T>C (p.Asp312=)
|
|
|
NM_002185.5(IL7R):c.952G>C (p.Asp318His)
|
rs200521932
|
|
NM_002185.5(IL7R):c.957A>G (p.Glu319=)
|
rs201275186
|
|
NM_002185.5(IL7R):c.960G>A (p.Val320=)
|
|
|
NM_002185.5(IL7R):c.966T>C (p.Gly322=)
|
|
|
NM_002185.5(IL7R):c.978T>C (p.Asp326=)
|
|
|
NM_002185.5(IL7R):c.980C>T (p.Thr327Met)
|
|
|
NM_002185.5(IL7R):c.981G>A (p.Thr327=)
|
rs200211847
|
|
NM_002185.5(IL7R):c.982T>C (p.Phe328Leu)
|
rs1760200356
|
|
NM_002185.5(IL7R):c.987T>A (p.Pro329=)
|
|
|
NM_002185.5(IL7R):c.993A>G (p.Gln331=)
|
|
|
NM_002185.5(IL7R):c.99A>G (p.Ala33=)
|
|
|
NM_002838.5(PTPRC):c.1000_1002dup (p.Asp334dup)
|
rs758791233
|
|
NM_002838.5(PTPRC):c.1003A>G (p.Thr335Ala)
|
rs1558012466
|
|
NM_002838.5(PTPRC):c.101-12A>C
|
|
|
NM_002838.5(PTPRC):c.101-15dup
|
rs764105488
|
|
NM_002838.5(PTPRC):c.101-19A>C
|
rs774322480
|
|
NM_002838.5(PTPRC):c.101-20C>T
|
|
|
NM_002838.5(PTPRC):c.101-9A>C
|
|
|
NM_002838.5(PTPRC):c.1014T>C (p.Ile338=)
|
|
|
NM_002838.5(PTPRC):c.1027C>G (p.Gln343Glu)
|
|
|
NM_002838.5(PTPRC):c.1033+13C>T
|
|
|
NM_002838.5(PTPRC):c.1033+15T>C
|
|
|
NM_002838.5(PTPRC):c.1033+20C>G
|
|
|
NM_002838.5(PTPRC):c.1033+8T>A
|
|
|
NM_002838.5(PTPRC):c.1033+8_1033+12del
|
|
|
NM_002838.5(PTPRC):c.1034-11C>A
|
|
|
NM_002838.5(PTPRC):c.1035T>C (p.Gly345=)
|
|
|
NM_002838.5(PTPRC):c.1062T>G (p.Ile354Met)
|
rs1558013560
|
|
NM_002838.5(PTPRC):c.1068A>G (p.Leu356=)
|
rs2102419356
|
|
NM_002838.5(PTPRC):c.1074C>T (p.Asn358=)
|
|
|
NM_002838.5(PTPRC):c.1083C>G (p.Pro361=)
|
|
|
NM_002838.5(PTPRC):c.1083C>T (p.Pro361=)
|
rs573231260
|
|
NM_002838.5(PTPRC):c.1092G>A (p.Glu364=)
|
|
|
NM_002838.5(PTPRC):c.1098G>A (p.Lys366=)
|
|
|
NM_002838.5(PTPRC):c.1104C>T (p.Asp368=)
|
|
|
NM_002838.5(PTPRC):c.1117T>C (p.Tyr373His)
|
rs1428550336
|
|
NM_002838.5(PTPRC):c.111A>G (p.Thr37=)
|
|
|
NM_002838.5(PTPRC):c.1171+11T>C
|
|
|
NM_002838.5(PTPRC):c.1171+15T>A
|
|
|
NM_002838.5(PTPRC):c.1171+16G>T
|
|
|
NM_002838.5(PTPRC):c.1171+17C>T
|
|
|
NM_002838.5(PTPRC):c.1171+3G>A
|
|
|
NM_002838.5(PTPRC):c.1172-16C>T
|
|
|
NM_002838.5(PTPRC):c.1172-19A>G
|
|
|
NM_002838.5(PTPRC):c.1172-20C>T
|
|
|
NM_002838.5(PTPRC):c.1172-6T>C
|
|
|
NM_002838.5(PTPRC):c.1172-9T>C
|
|
|
NM_002838.5(PTPRC):c.1181A>G (p.Glu394Gly)
|
rs1653389355
|
|
NM_002838.5(PTPRC):c.120G>C (p.Met40Ile)
|
rs1571844516
|
|
NM_002838.5(PTPRC):c.123C>G (p.Pro41=)
|
|
|
NM_002838.5(PTPRC):c.123C>T (p.Pro41=)
|
|
|
NM_002838.5(PTPRC):c.1241C>A (p.Pro414His)
|
|
|
NM_002838.5(PTPRC):c.1245T>C (p.Pro415=)
|
|
|
NM_002838.5(PTPRC):c.125G>T (p.Ser42Ile)
|
rs1159457079
|
|
NM_002838.5(PTPRC):c.1287G>A (p.Glu429=)
|
|
|
NM_002838.5(PTPRC):c.1291+16T>A
|
|
|
NM_002838.5(PTPRC):c.1291+17T>A
|
|
|
NM_002838.5(PTPRC):c.1291+9T>G
|
|
|
NM_002838.5(PTPRC):c.1292-15C>T
|
rs2102439466
|
|
NM_002838.5(PTPRC):c.1292-20T>C
|
|
|
NM_002838.5(PTPRC):c.1292-3C>A
|
rs2102439511
|
|
NM_002838.5(PTPRC):c.1292-5C>T
|
|
|
NM_002838.5(PTPRC):c.1293A>G (p.Glu431=)
|
|
|
NM_002838.5(PTPRC):c.1314T>G (p.Asp438Glu)
|
|
|
NM_002838.5(PTPRC):c.1318A>C (p.Asn440His)
|
rs2102439668
|
|
NM_002838.5(PTPRC):c.1320C>T (p.Asn440=)
|
rs1653604546
|
|
NM_002838.5(PTPRC):c.1321C>A (p.Leu441Met)
|
rs375608198
|
|
NM_002838.5(PTPRC):c.1347A>G (p.Leu449=)
|
|
|
NM_002838.5(PTPRC):c.1359G>A (p.Thr453=)
|
|
|
NM_002838.5(PTPRC):c.1374A>G (p.Ser458=)
|
|
|
NM_002838.5(PTPRC):c.1380T>C (p.His460=)
|
|
|
NM_002838.5(PTPRC):c.1383C>G (p.Ala461=)
|
|
|
NM_002838.5(PTPRC):c.1386C>T (p.Tyr462=)
|
|
|
NM_002838.5(PTPRC):c.1403A>T (p.Gln468Leu)
|
|
|
NM_002838.5(PTPRC):c.1404A>G (p.Gln468=)
|
|
|
NM_002838.5(PTPRC):c.1407T>C (p.Arg469=)
|
|
|
NM_002838.5(PTPRC):c.1415G>A (p.Ser472Asn)
|
|
|
NM_002838.5(PTPRC):c.1416T>C (p.Ser472=)
|
|
|
NM_002838.5(PTPRC):c.141T>C (p.Ser47=)
|
|
|
NM_002838.5(PTPRC):c.1436C>G (p.Thr479Arg)
|
|
|
NM_002838.5(PTPRC):c.1442A>G (p.Lys481Arg)
|
|
|
NM_002838.5(PTPRC):c.1446T>C (p.Ser482=)
|
|
|
NM_002838.5(PTPRC):c.1450+20G>A
|
|
|
NM_002838.5(PTPRC):c.1450+7T>C
|
rs2102440241
|
|
NM_002838.5(PTPRC):c.1450+8A>G
|
rs754391361
|
|
NM_002838.5(PTPRC):c.1450+9T>C
|
|
|
NM_002838.5(PTPRC):c.1451-20A>T
|
|
|
NM_002838.5(PTPRC):c.1451-4A>T
|
|
|
NM_002838.5(PTPRC):c.1457G>A (p.Ser486Asn)
|
rs759266994
|
|
NM_002838.5(PTPRC):c.145C>A (p.Pro49Thr)
|
rs746480752
|
|
NM_002838.5(PTPRC):c.1462G>T (p.Val488Phe)
|
rs1653684365
|
|
NM_002838.5(PTPRC):c.1471A>C (p.Met491Leu)
|
rs910573647
|
|
NM_002838.5(PTPRC):c.1479C>G (p.Val493=)
|
|
|
NM_002838.5(PTPRC):c.1497T>C (p.Asn499=)
|
|
|
NM_002838.5(PTPRC):c.1505A>G (p.His502Arg)
|
|
|
NM_002838.5(PTPRC):c.1506T>C (p.His502=)
|
|
|
NM_002838.5(PTPRC):c.1507G>A (p.Val503Ile)
|
rs1193789799
|
|
NM_002838.5(PTPRC):c.1507G>T (p.Val503Phe)
|
|
|
NM_002838.5(PTPRC):c.1509C>A (p.Val503=)
|
|
|
NM_002838.5(PTPRC):c.1509C>G (p.Val503=)
|
rs1232703084
|
|
NM_002838.5(PTPRC):c.150A>G (p.Leu50=)
|
|
|
NM_002838.5(PTPRC):c.1525A>C (p.Arg509=)
|
|
|
NM_002838.5(PTPRC):c.1531C>A (p.Arg511Ser)
|
rs746951007
|
|
NM_002838.5(PTPRC):c.153T>A (p.Pro51=)
|
|
|
NM_002838.5(PTPRC):c.1551T>C (p.Arg517=)
|
rs1350521936
|
|
NM_002838.5(PTPRC):c.1569A>G (p.Glu523=)
|
|
|
NM_002838.5(PTPRC):c.1577A>C (p.Asn526Thr)
|
rs1380213873
|
|
NM_002838.5(PTPRC):c.1584G>T (p.Leu528=)
|
|
|
NM_002838.5(PTPRC):c.1591A>C (p.Asn531His)
|
rs757782403
|
|
NM_002838.5(PTPRC):c.1599G>C (p.Ser533=)
|
rs372045826
|
|
NM_002838.5(PTPRC):c.1599G>T (p.Ser533=)
|
|
|
NM_002838.5(PTPRC):c.1602T>C (p.His534=)
|
|
|
NM_002838.5(PTPRC):c.1625_1626dup (p.Asp543fs)
|
rs2102445016
|
|
NM_002838.5(PTPRC):c.1626A>C (p.Lys542Asn)
|
|
|
NM_002838.5(PTPRC):c.1628A>T (p.Asp543Val)
|
rs1653699172
|
|
NM_002838.5(PTPRC):c.1629T>C (p.Asp543=)
|
|
|
NM_002838.5(PTPRC):c.162C>T (p.Thr54=)
|
|
|
NM_002838.5(PTPRC):c.1635A>G (p.Gln545=)
|
rs745672445
|
|
NM_002838.5(PTPRC):c.1654T>G (p.Phe552Val)
|
rs1653701472
|
|
NM_002838.5(PTPRC):c.1659+11G>A
|
|
|
NM_002838.5(PTPRC):c.1659+20A>G
|
|
|
NM_002838.5(PTPRC):c.1659+6A>C
|
rs1571866580
|
|
NM_002838.5(PTPRC):c.1659+9A>G
|
|
|
NM_002838.5(PTPRC):c.16T>A (p.Trp6Arg)
|
rs761069010
|
|
NM_002838.5(PTPRC):c.1721-11T>G
|
|
|
NM_002838.5(PTPRC):c.1721-16T>A
|
|
|
NM_002838.5(PTPRC):c.1721-18A>G
|
|
|
NM_002838.5(PTPRC):c.1721-20G>T
|
|
|
NM_002838.5(PTPRC):c.1727C>T (p.Ser576Phe)
|
rs1654236550
|
|
NM_002838.5(PTPRC):c.1731G>A (p.Lys577=)
|
|
|
NM_002838.5(PTPRC):c.1737G>A (p.Leu579=)
|
rs112713919
|
|
NM_002838.5(PTPRC):c.1770A>C (p.Thr590=)
|
|
|
NM_002838.5(PTPRC):c.1770A>G (p.Thr590=)
|
rs201158579
|
|
NM_002838.5(PTPRC):c.177C>G (p.Pro59=)
|
rs17612648
|
|
NM_002838.5(PTPRC):c.177C>T (p.Pro59=)
|
rs17612648
|
|
NM_002838.5(PTPRC):c.1786G>T (p.Val596Phe)
|
rs150416673
|
|
NM_002838.5(PTPRC):c.180A>G (p.Ala60=)
|
rs761764418
|
|
NM_002838.5(PTPRC):c.1827C>T (p.Ser609=)
|
|
|
NM_002838.5(PTPRC):c.1829+10G>C
|
rs2102473831
|
|
NM_002838.5(PTPRC):c.1829+15T>A
|
|
|
NM_002838.5(PTPRC):c.1829+17A>C
|
|
|
NM_002838.5(PTPRC):c.1830-10A>G
|
|
|
NM_002838.5(PTPRC):c.1830-14dup
|
|
|
NM_002838.5(PTPRC):c.1830-6T>C
|
|
|
NM_002838.5(PTPRC):c.1833T>C (p.Asn611=)
|
|
|
NM_002838.5(PTPRC):c.1839T>C (p.Asp613=)
|
|
|
NM_002838.5(PTPRC):c.1856T>C (p.Val619Ala)
|
|
|
NM_002838.5(PTPRC):c.1862G>A (p.Arg621Lys)
|
rs2102475810
|
|
NM_002838.5(PTPRC):c.1863G>A (p.Arg621=)
|
|
|
NM_002838.5(PTPRC):c.1864+11A>G
|
|
|
NM_002838.5(PTPRC):c.1864+11A>T
|
|
|
NM_002838.5(PTPRC):c.1864+18dup
|
rs763565874
|
|
NM_002838.5(PTPRC):c.1864+19G>A
|
|
|
NM_002838.5(PTPRC):c.1864+2T>A
|
rs2102475830
|
|
NM_002838.5(PTPRC):c.1864+2T>C
|
|
|
NM_002838.5(PTPRC):c.1864+4_1864+7del
|
rs773117955
|
|
NM_002838.5(PTPRC):c.1864+7A>G
|
|
|
NM_002838.5(PTPRC):c.1865-10A>G
|
|
|
NM_002838.5(PTPRC):c.1865-19A>C
|
|
|
NM_002838.5(PTPRC):c.1865-4C>G
|
|
|
NM_002838.5(PTPRC):c.1865A>G (p.Asp622Gly)
|
rs762123424
|
|
NM_002838.5(PTPRC):c.1866T>A (p.Asp622Glu)
|
rs772094735
|
|
NM_002838.5(PTPRC):c.1882A>C (p.Met628Leu)
|
rs760788576
|
|
NM_002838.5(PTPRC):c.1887T>A (p.Asn629Lys)
|
rs1654392123
|
|
NM_002838.5(PTPRC):c.1894C>G (p.Pro632Ala)
|
rs1174214848
|
|
NM_002838.5(PTPRC):c.1899C>T (p.Ile633=)
|
|
|
NM_002838.5(PTPRC):c.1905A>G (p.Ala635=)
|
|
|
NM_002838.5(PTPRC):c.1912T>C (p.Leu638=)
|
|
|
NM_002838.5(PTPRC):c.1915T>C (p.Leu639=)
|
|
|
NM_002838.5(PTPRC):c.1920A>G (p.Glu640=)
|
|
|
NM_002838.5(PTPRC):c.1923T>C (p.Thr641=)
|
|
|
NM_002838.5(PTPRC):c.1926T>C (p.Tyr642=)
|
|
|
NM_002838.5(PTPRC):c.1929G>C (p.Lys643Asn)
|
|
|
NM_002838.5(PTPRC):c.1938T>C (p.Ile646=)
|
rs749949538
|
|
NM_002838.5(PTPRC):c.196G>T (p.Glu66Ter)
|
|
|
NM_002838.5(PTPRC):c.1974+19A>G
|
|
|
NM_002838.5(PTPRC):c.1975-11_1975-9del
|
|
|
NM_002838.5(PTPRC):c.1975-13T>C
|
|
|
NM_002838.5(PTPRC):c.1975-15C>T
|
|
|
NM_002838.5(PTPRC):c.1975-20G>T
|
|
|
NM_002838.5(PTPRC):c.1975-7C>T
|
|
|
NM_002838.5(PTPRC):c.1976G>A (p.Ser659Asn)
|
|
|
NM_002838.5(PTPRC):c.1977C>T (p.Ser659=)
|
|
|
NM_002838.5(PTPRC):c.1983G>A (p.Pro661=)
|
rs748349607
|
|
NM_002838.5(PTPRC):c.1983G>C (p.Pro661=)
|
|
|
NM_002838.5(PTPRC):c.1983G>T (p.Pro661=)
|
rs748349607
|
|
NM_002838.5(PTPRC):c.1989G>A (p.Val663=)
|
|
|
NM_002838.5(PTPRC):c.1994G>T (p.Ser665Ile)
|
|
|
NM_002838.5(PTPRC):c.2007A>G (p.Ile669Met)
|
rs1571878480
|
|
NM_002838.5(PTPRC):c.2017C>T (p.Arg673Ter)
|
|
|
NM_002838.5(PTPRC):c.2022G>A (p.Lys674=)
|
|
|
NM_002838.5(PTPRC):c.2031C>T (p.Asn677=)
|
|
|
NM_002838.5(PTPRC):c.2034G>T (p.Gln678His)
|
rs777914316
|
|
NM_002838.5(PTPRC):c.2044C>G (p.Arg682Gly)
|
rs1553243145
|
|
NM_002838.5(PTPRC):c.2044C>T (p.Arg682Cys)
|
rs1553243145
|
|
NM_002838.5(PTPRC):c.2049T>C (p.Tyr683=)
|
|
|
NM_002838.5(PTPRC):c.2050G>A (p.Val684Ile)
|
|
|
NM_002838.5(PTPRC):c.2065+12T>C
|
|
|
NM_002838.5(PTPRC):c.2065+15A>C
|
|
|
NM_002838.5(PTPRC):c.2065+17T>C
|
|
|
NM_002838.5(PTPRC):c.2065+18G>T
|
|
|
NM_002838.5(PTPRC):c.2065+8T>C
|
|
|
NM_002838.5(PTPRC):c.2066-15C>A
|
|
|
NM_002838.5(PTPRC):c.2066-16T>A
|
|
|
NM_002838.5(PTPRC):c.2066-16T>C
|
|
|
NM_002838.5(PTPRC):c.2066-9C>G
|
|
|
NM_002838.5(PTPRC):c.2076C>T (p.Asn692=)
|
|
|
NM_002838.5(PTPRC):c.2100C>T (p.Asn700=)
|
|
|
NM_002838.5(PTPRC):c.2101G>A (p.Gly701Arg)
|
|
|
NM_002838.5(PTPRC):c.2102G>A (p.Gly701Glu)
|
|
|
NM_002838.5(PTPRC):c.2105A>T (p.Asp702Val)
|
|
|
NM_002838.5(PTPRC):c.2107G>T (p.Ala703Ser)
|
rs1654442187
|
|
NM_002838.5(PTPRC):c.2142+12T>A
|
rs2102485859
|
|
NM_002838.5(PTPRC):c.2142+14T>A
|
|
|
NM_002838.5(PTPRC):c.2142+16C>A
|
|
|
NM_002838.5(PTPRC):c.2142+7A>G
|
rs764731559
|
|
NM_002838.5(PTPRC):c.2142+8A>C
|
|
|
NM_002838.5(PTPRC):c.2143-11G>A
|
rs2102490256
|
|
NM_002838.5(PTPRC):c.2143-14T>C
|
|
|
NM_002838.5(PTPRC):c.2143-15A>C
|
|
|
NM_002838.5(PTPRC):c.2143-19C>A
|
|
|
NM_002838.5(PTPRC):c.2157C>G (p.Pro719=)
|
|
|
NM_002838.5(PTPRC):c.216C>T (p.Thr72=)
|
|
|
NM_002838.5(PTPRC):c.2179+15_2179+17del
|
|
|
NM_002838.5(PTPRC):c.2179+20A>G
|
|
|
NM_002838.5(PTPRC):c.2179+7T>G
|
|
|
NM_002838.5(PTPRC):c.2179+8C>T
|
rs369017416
|
|
NM_002838.5(PTPRC):c.2180-11T>C
|
|
|
NM_002838.5(PTPRC):c.2180-12T>C
|
|
|
NM_002838.5(PTPRC):c.2180-17A>G
|
|
|
NM_002838.5(PTPRC):c.2180-20T>G
|
|
|
NM_002838.5(PTPRC):c.2180-5C>T
|
|
|
NM_002838.5(PTPRC):c.2188G>T (p.Asp730Tyr)
|
rs1189671328
|
|
NM_002838.5(PTPRC):c.2193A>G (p.Glu731=)
|
|
|
NM_002838.5(PTPRC):c.2204A>T (p.Asp735Val)
|
|
|
NM_002838.5(PTPRC):c.2205T>C (p.Asp735=)
|
|
|
NM_002838.5(PTPRC):c.2234C>T (p.Ala745Val)
|
|
|
NM_002838.5(PTPRC):c.2235C>T (p.Ala745=)
|
|
|
NM_002838.5(PTPRC):c.2237_2238del (p.Thr746fs)
|
|
|
NM_002838.5(PTPRC):c.2239G>T (p.Val747Phe)
|
rs1011811934
|
|
NM_002838.5(PTPRC):c.2247C>T (p.Val749=)
|
|
|
NM_002838.5(PTPRC):c.2256T>G (p.Thr752=)
|
|
|
NM_002838.5(PTPRC):c.2277+11A>T
|
|
|
NM_002838.5(PTPRC):c.2277+12G>C
|
|
|
NM_002838.5(PTPRC):c.2277+13A>C
|
|
|
NM_002838.5(PTPRC):c.2277+17T>C
|
|
|
NM_002838.5(PTPRC):c.2278-10T>A
|
|
|
NM_002838.5(PTPRC):c.2278-11T>G
|
|
|
NM_002838.5(PTPRC):c.2278-18T>C
|
|
|
NM_002838.5(PTPRC):c.2278-6del
|
|
|
NM_002838.5(PTPRC):c.2278-9A>T
|
|
|
NM_002838.5(PTPRC):c.2279A>G (p.Asn760Ser)
|
rs1389586846
|
|
NM_002838.5(PTPRC):c.2289A>G (p.Ala763=)
|
|
|
NM_002838.5(PTPRC):c.2301G>A (p.Pro767=)
|
|
|
NM_002838.5(PTPRC):c.2305A>G (p.Met769Val)
|
rs1558030527
|
|
NM_002838.5(PTPRC):c.2318C>G (p.Thr773Ser)
|
rs1571880881
|
|
NM_002838.5(PTPRC):c.232C>T (p.Pro78Ser)
|
rs1364776797
|
|
NM_002838.5(PTPRC):c.2331A>G (p.Gly777=)
|
rs1199533494
|
|
NM_002838.5(PTPRC):c.2339T>C (p.Val780Ala)
|
rs2102493243
|
|
NM_002838.5(PTPRC):c.2352C>T (p.Asn784=)
|
|
|
NM_002838.5(PTPRC):c.2358C>T (p.His786=)
|
|
|
NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs)
|
rs1571880941
|
|
NM_002838.5(PTPRC):c.2370A>C (p.Pro790=)
|
|
|
NM_002838.5(PTPRC):c.2378T>C (p.Ile793Thr)
|
rs1654577048
|
|
NM_002838.5(PTPRC):c.238A>C (p.Asn80His)
|
|
|
NM_002838.5(PTPRC):c.2403+11T>C
|
|
|
NM_002838.5(PTPRC):c.2403+15T>C
|
|
|
NM_002838.5(PTPRC):c.2403+16A>G
|
rs1252249351
|
|
NM_002838.5(PTPRC):c.2403+1G>A
|
rs1553243550
|
|
NM_002838.5(PTPRC):c.2403+1G>T
|
|
|
NM_002838.5(PTPRC):c.2404-18A>G
|
|
|
NM_002838.5(PTPRC):c.2404-4C>T
|
|
|
NM_002838.5(PTPRC):c.2418A>C (p.Ala806=)
|
|
|
NM_002838.5(PTPRC):c.2421T>G (p.Thr807=)
|
|
|
NM_002838.5(PTPRC):c.242C>T (p.Thr81Ile)
|
|
|
NM_002838.5(PTPRC):c.2439C>T (p.His813=)
|
|
|
NM_002838.5(PTPRC):c.2451C>T (p.Thr817=)
|
|
|
NM_002838.5(PTPRC):c.2466C>T (p.His822=)
|
|
|
NM_002838.5(PTPRC):c.2467G>A (p.Gly823Arg)
|
rs148122103
|
|
NM_002838.5(PTPRC):c.2472G>A (p.Val824=)
|
|
|
NM_002838.5(PTPRC):c.2474C>T (p.Pro825Leu)
|
|
|
NM_002838.5(PTPRC):c.2475T>A (p.Pro825=)
|
|
|
NM_002838.5(PTPRC):c.2478G>A (p.Glu826=)
|
|
|
NM_002838.5(PTPRC):c.2488T>C (p.Leu830=)
|
|
|
NM_002838.5(PTPRC):c.2495T>C (p.Leu832Pro)
|
rs1558034292
|
|
NM_002838.5(PTPRC):c.2496C>G (p.Leu832=)
|
|
|
NM_002838.5(PTPRC):c.249C>T (p.Thr83=)
|
|
|
NM_002838.5(PTPRC):c.2505A>T (p.Arg835Ser)
|
rs200065664
|
|
NM_002838.5(PTPRC):c.2508G>A (p.Arg836=)
|
|
|
NM_002838.5(PTPRC):c.2514G>A (p.Val838=)
|
|
|
NM_002838.5(PTPRC):c.2514G>C (p.Val838=)
|
rs749654074
|
|
NM_002838.5(PTPRC):c.2526C>T (p.Ser842=)
|
rs373509702
|
|
NM_002838.5(PTPRC):c.2528A>G (p.Asn843Ser)
|
|
|
NM_002838.5(PTPRC):c.2529T>C (p.Asn843=)
|
|
|
NM_002838.5(PTPRC):c.2541T>C (p.Gly847=)
|
|
|
NM_002838.5(PTPRC):c.2561+12G>A
|
|
|
NM_002838.5(PTPRC):c.2561+12G>C
|
|
|
NM_002838.5(PTPRC):c.2561+13A>T
|
|
|
NM_002838.5(PTPRC):c.2561+24_2561+27del
|
|
|
NM_002838.5(PTPRC):c.2561+25_2561+27dup
|
|
|
NM_002838.5(PTPRC):c.2561+26_2561+27del
|
rs370217220
|
|
NM_002838.5(PTPRC):c.2561+26_2561+27dup
|
|
|
NM_002838.5(PTPRC):c.2561+27del
|
rs370217220
|
|
NM_002838.5(PTPRC):c.2561+27dup
|
|
|
NM_002838.5(PTPRC):c.2561+2T>C
|
|
|
NM_002838.5(PTPRC):c.2562-11T>C
|
|
|
NM_002838.5(PTPRC):c.2562-14G>C
|
|
|
NM_002838.5(PTPRC):c.2562-15T>G
|
|
|
NM_002838.5(PTPRC):c.2562-18T>A
|
rs767315084
|
|
NM_002838.5(PTPRC):c.2562-18T>C
|
|
|
NM_002838.5(PTPRC):c.2562-19T>A
|
|
|
NM_002838.5(PTPRC):c.2562-5G>C
|
|
|
NM_002838.5(PTPRC):c.2565T>C (p.Ala855=)
|
|
|
NM_002838.5(PTPRC):c.2568T>A (p.Gly856=)
|
|
|
NM_002838.5(PTPRC):c.2592C>A (p.Ile864=)
|
|
|
NM_002838.5(PTPRC):c.260del (p.Pro87fs)
|
|
|
NM_002838.5(PTPRC):c.2616C>A (p.Gly872=)
|
|
|
NM_002838.5(PTPRC):c.2619G>T (p.Leu873=)
|
|
|
NM_002838.5(PTPRC):c.2620del (p.Glu874fs)
|
|
|
NM_002838.5(PTPRC):c.2624C>T (p.Ala875Val)
|
rs775435143
|
|
NM_002838.5(PTPRC):c.2625C>A (p.Ala875=)
|
|
|
NM_002838.5(PTPRC):c.2632A>G (p.Lys878Glu)
|
rs1654939426
|
|
NM_002838.5(PTPRC):c.2637G>A (p.Val879=)
|
|
|
NM_002838.5(PTPRC):c.2637G>C (p.Val879=)
|
|
|
NM_002838.5(PTPRC):c.2641G>A (p.Val881Ile)
|
rs1654939978
|
|
NM_002838.5(PTPRC):c.2643T>C (p.Val881=)
|
|
|
NM_002838.5(PTPRC):c.2654T>C (p.Val885Ala)
|
|
|
NM_002838.5(PTPRC):c.2664A>G (p.Leu888=)
|
|
|
NM_002838.5(PTPRC):c.2668C>T (p.Arg890Ter)
|
|
|
NM_002838.5(PTPRC):c.2676A>G (p.Arg892=)
|
|
|
NM_002838.5(PTPRC):c.2679C>T (p.Cys893=)
|
rs1256271544
|
|
NM_002838.5(PTPRC):c.2694A>G (p.Val898=)
|
|
|
NM_002838.5(PTPRC):c.2697+12C>A
|
|
|
NM_002838.5(PTPRC):c.2697+12C>T
|
|
|
NM_002838.5(PTPRC):c.2697+20G>C
|
|
|
NM_002838.5(PTPRC):c.2697+4T>C
|
rs1430240323
|
|
NM_002838.5(PTPRC):c.2697+7T>C
|
|
|
NM_002838.5(PTPRC):c.2698-20A>G
|
|
|
NM_002838.5(PTPRC):c.2700C>T (p.Ala900=)
|
|
|
NM_002838.5(PTPRC):c.2703G>A (p.Gln901=)
|
|
|
NM_002838.5(PTPRC):c.2709C>T (p.Ile903=)
|
rs1553244701
|
|
NM_002838.5(PTPRC):c.2715C>T (p.Ile905=)
|
|
|
NM_002838.5(PTPRC):c.2726T>C (p.Leu909Ser)
|
|
|
NM_002838.5(PTPRC):c.2736C>T (p.Tyr912=)
|
|
|
NM_002838.5(PTPRC):c.2737A>G (p.Asn913Asp)
|
|
|
NM_002838.5(PTPRC):c.2738A>G (p.Asn913Ser)
|
|
|
NM_002838.5(PTPRC):c.2748A>G (p.Gly916=)
|
|
|
NM_002838.5(PTPRC):c.2750A>G (p.Glu917Gly)
|
|
|
NM_002838.5(PTPRC):c.2754A>T (p.Thr918=)
|
|
|
NM_002838.5(PTPRC):c.2757A>G (p.Glu919=)
|
|
|
NM_002838.5(PTPRC):c.2769T>C (p.Ser923=)
|
|
|
NM_002838.5(PTPRC):c.2775A>G (p.Leu925=)
|
|
|
NM_002838.5(PTPRC):c.2778T>C (p.His926=)
|
rs373417813
|
|
NM_002838.5(PTPRC):c.2781A>C (p.Pro927=)
|
|
|
NM_002838.5(PTPRC):c.2781A>G (p.Pro927=)
|
|
|
NM_002838.5(PTPRC):c.2798A>G (p.Lys933Arg)
|
|
|
NM_002838.5(PTPRC):c.279T>C (p.Ala93=)
|
rs2102385190
|
|
NM_002838.5(PTPRC):c.2815A>C (p.Ser939Arg)
|
rs2102522478
|
|
NM_002838.5(PTPRC):c.281G>A (p.Ser94Asn)
|
|
|
NM_002838.5(PTPRC):c.2832A>G (p.Leu944=)
|
rs2102522555
|
|
NM_002838.5(PTPRC):c.2834A>G (p.Glu945Gly)
|
rs1481095196
|
|
NM_002838.5(PTPRC):c.2838T>C (p.Ala946=)
|
|
|
NM_002838.5(PTPRC):c.2847+10G>A
|
rs2102522657
|
|
NM_002838.5(PTPRC):c.2847+14C>G
|
|
|
NM_002838.5(PTPRC):c.2847+16A>G
|
|
|
NM_002838.5(PTPRC):c.2847+20T>C
|
|
|
NM_002838.5(PTPRC):c.2847+8T>C
|
|
|
NM_002838.5(PTPRC):c.2847G>A (p.Gln949=)
|
rs762292865
|
|
NM_002838.5(PTPRC):c.2848-11T>C
|
|
|
NM_002838.5(PTPRC):c.2848-14T>G
|
|
|
NM_002838.5(PTPRC):c.2848-15T>G
|
|
|
NM_002838.5(PTPRC):c.2848-15_2848-14insG
|
|
|
NM_002838.5(PTPRC):c.2848-16T>G
|
|
|
NM_002838.5(PTPRC):c.2848-16_2848-15insG
|
|
|
NM_002838.5(PTPRC):c.2848-18T>G
|
|
|
NM_002838.5(PTPRC):c.2848-18_2848-17insG
|
|
|
NM_002838.5(PTPRC):c.2848-20_2848-19del
|
|
|
NM_002838.5(PTPRC):c.2848-20_2848-19insGT
|
|
|
NM_002838.5(PTPRC):c.2848-22_2848-19del
|
|
|
NM_002838.5(PTPRC):c.2848-4T>G
|
|
|
NM_002838.5(PTPRC):c.2848-4_2848-3insTC
|
|
|
NM_002838.5(PTPRC):c.2848-4del
|
rs57296163
|
|
NM_002838.5(PTPRC):c.2848-4dup
|
|
|
NM_002838.5(PTPRC):c.2848-5_2848-4del
|
rs57296163
|
|
NM_002838.5(PTPRC):c.2848-8_2848-7insG
|
|
|
NM_002838.5(PTPRC):c.2848-9_2848-8insC
|
rs1655221569
|
|
NM_002838.5(PTPRC):c.2859A>T (p.Ser953=)
|
|
|
NM_002838.5(PTPRC):c.286T>G (p.Phe96Val)
|
|
|
NM_002838.5(PTPRC):c.2883C>T (p.His961=)
|
|
|
NM_002838.5(PTPRC):c.288T>C (p.Phe96=)
|
|
|
NM_002838.5(PTPRC):c.2925T>C (p.Ser975=)
|
|
|
NM_002838.5(PTPRC):c.2931C>T (p.Val977=)
|
rs755145524
|
|
NM_002838.5(PTPRC):c.2938+15T>C
|
|
|
NM_002838.5(PTPRC):c.2938+19del
|
|
|
NM_002838.5(PTPRC):c.2938+19dup
|
rs771097555
|
|
NM_002838.5(PTPRC):c.2938+20_2938+21dup
|
|
|
NM_002838.5(PTPRC):c.2939-20T>C
|
|
|
NM_002838.5(PTPRC):c.2939-4A>C
|
|
|
NM_002838.5(PTPRC):c.2939-4A>G
|
|
|
NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter)
|
rs779246448
|
|
NM_002838.5(PTPRC):c.2942A>T (p.Asp981Val)
|
|
|
NM_002838.5(PTPRC):c.2946T>C (p.Tyr982=)
|
|
|
NM_002838.5(PTPRC):c.294C>G (p.Thr98=)
|
|
|
NM_002838.5(PTPRC):c.2979G>C (p.Met993Ile)
|
|
|
NM_002838.5(PTPRC):c.298+12A>G
|
|
|
NM_002838.5(PTPRC):c.298+14del
|
|
|
NM_002838.5(PTPRC):c.298+15G>A
|
|
|
NM_002838.5(PTPRC):c.298+23_298+27del
|
|
|
NM_002838.5(PTPRC):c.298+7A>G
|
|
|
NM_002838.5(PTPRC):c.299-10C>T
|
|
|
NM_002838.5(PTPRC):c.299-17T>C
|
|
|
NM_002838.5(PTPRC):c.299-18C>A
|
|
|
NM_002838.5(PTPRC):c.299-20A>G
|
|
|
NM_002838.5(PTPRC):c.299-20A>T
|
|
|
NM_002838.5(PTPRC):c.299-9C>T
|
|
|
NM_002838.5(PTPRC):c.2997T>C (p.His999=)
|
|
|
NM_002838.5(PTPRC):c.3004G>A (p.Asp1002Asn)
|
rs1268528022
|
|
NM_002838.5(PTPRC):c.3018T>C (p.Asp1006=)
|
|
|
NM_002838.5(PTPRC):c.3021T>A (p.Asp1007Glu)
|
|
|
NM_002838.5(PTPRC):c.3024C>T (p.Asp1008=)
|
|
|
NM_002838.5(PTPRC):c.3028G>T (p.Asp1010Tyr)
|
rs2102538291
|
|
NM_002838.5(PTPRC):c.3039A>G (p.Glu1013=)
|
|
|
NM_002838.5(PTPRC):c.303T>G (p.Val101=)
|
|
|
NM_002838.5(PTPRC):c.3041C>G (p.Pro1014Arg)
|
|
|
NM_002838.5(PTPRC):c.3041C>T (p.Pro1014Leu)
|
|
|
NM_002838.5(PTPRC):c.3051C>T (p.Tyr1017=)
|
rs2102538418
|
|
NM_002838.5(PTPRC):c.3059C>A (p.Ala1020Glu)
|
rs1655286650
|
|
NM_002838.5(PTPRC):c.3072+15T>A
|
|
|
NM_002838.5(PTPRC):c.3072+16G>T
|
|
|
NM_002838.5(PTPRC):c.3072+18C>T
|
|
|
NM_002838.5(PTPRC):c.3073-11T>C
|
rs1655330343
|
|
NM_002838.5(PTPRC):c.3073-11dup
|
rs572108683
|
|
NM_002838.5(PTPRC):c.3073-14T>C
|
|
|
NM_002838.5(PTPRC):c.3073-17T>A
|
|
|
NM_002838.5(PTPRC):c.3073-18C>T
|
|
|
NM_002838.5(PTPRC):c.3073-19C>G
|
|
|
NM_002838.5(PTPRC):c.308C>G (p.Ser103Ter)
|
rs2102393172
|
|
NM_002838.5(PTPRC):c.3115C>T (p.Leu1039=)
|
|
|
NM_002838.5(PTPRC):c.311T>C (p.Val104Ala)
|
rs2102393196
|
|
NM_002838.5(PTPRC):c.3122A>G (p.Glu1041Gly)
|
rs1655333053
|
|
NM_002838.5(PTPRC):c.3126C>T (p.Thr1042=)
|
rs375079291
|
|
NM_002838.5(PTPRC):c.3132T>C (p.Gly1044=)
|
|
|
NM_002838.5(PTPRC):c.3150C>T (p.Ile1050=)
|
|
|
NM_002838.5(PTPRC):c.3156A>G (p.Gln1052=)
|
rs1411952454
|
|
NM_002838.5(PTPRC):c.3165C>G (p.Val1055=)
|
|
|
NM_002838.5(PTPRC):c.3174T>C (p.Ile1058=)
|
|
|
NM_002838.5(PTPRC):c.3179T>C (p.Met1060Thr)
|
rs1571894648
|
|
NM_002838.5(PTPRC):c.3189A>T (p.Glu1063Asp)
|
rs1655337581
|
|
NM_002838.5(PTPRC):c.318G>T (p.Thr106=)
|
|
|
NM_002838.5(PTPRC):c.3190C>A (p.Leu1064Met)
|
rs1558039602
|
|
NM_002838.5(PTPRC):c.3190C>T (p.Leu1064=)
|
|
|
NM_002838.5(PTPRC):c.3192G>A (p.Leu1064=)
|
|
|
NM_002838.5(PTPRC):c.3196C>T (p.His1066Tyr)
|
|
|
NM_002838.5(PTPRC):c.3197A>G (p.His1066Arg)
|
rs1655338254
|
|
NM_002838.5(PTPRC):c.3198T>C (p.His1066=)
|
|
|
NM_002838.5(PTPRC):c.3207+10T>G
|
|
|
NM_002838.5(PTPRC):c.3207+11T>C
|
|
|
NM_002838.5(PTPRC):c.3207+13G>C
|
|
|
NM_002838.5(PTPRC):c.3207+14A>G
|
|
|
NM_002838.5(PTPRC):c.3207+15G>A
|
|
|
NM_002838.5(PTPRC):c.3207+15G>T
|
|
|
NM_002838.5(PTPRC):c.3207+18T>A
|
|
|
NM_002838.5(PTPRC):c.3207+2T>A
|
|
|
NM_002838.5(PTPRC):c.3207+8C>A
|
|
|
NM_002838.5(PTPRC):c.3208-10T>C
|
|
|
NM_002838.5(PTPRC):c.3208-11C>A
|
rs2102546780
|
|
NM_002838.5(PTPRC):c.3208-15T>C
|
|
|
NM_002838.5(PTPRC):c.3208-18T>C
|
|
|
NM_002838.5(PTPRC):c.3208-1G>C
|
|
|
NM_002838.5(PTPRC):c.3208-4C>G
|
rs2102546800
|
|
NM_002838.5(PTPRC):c.3208-7T>C
|
|
|
NM_002838.5(PTPRC):c.3218C>G (p.Ala1073Gly)
|
rs2102546849
|
|
NM_002838.5(PTPRC):c.3219T>C (p.Ala1073=)
|
|
|
NM_002838.5(PTPRC):c.3222G>A (p.Gln1074=)
|
rs190241405
|
|
NM_002838.5(PTPRC):c.3230G>A (p.Gly1077Glu)
|
rs1655418449
|
|
NM_002838.5(PTPRC):c.3236dup (p.Gln1081fs)
|
|
|
NM_002838.5(PTPRC):c.323A>C (p.His108Pro)
|
|
|
NM_002838.5(PTPRC):c.3249T>C (p.Tyr1083=)
|
|
|
NM_002838.5(PTPRC):c.3252A>G (p.Gly1084=)
|
|
|
NM_002838.5(PTPRC):c.3257T>C (p.Ile1086Thr)
|
|
|
NM_002838.5(PTPRC):c.3261A>G (p.Glu1087=)
|
|
|
NM_002838.5(PTPRC):c.3267C>T (p.Asp1089=)
|
|
|
NM_002838.5(PTPRC):c.3268C>T (p.Leu1090=)
|
|
|
NM_002838.5(PTPRC):c.3274G>C (p.Asp1092His)
|
|
|
NM_002838.5(PTPRC):c.3278C>A (p.Thr1093Lys)
|
rs984089455
|
|
NM_002838.5(PTPRC):c.3278C>T (p.Thr1093Ile)
|
rs984089455
|
|
NM_002838.5(PTPRC):c.3288T>C (p.Ser1096=)
|
|
|
NM_002838.5(PTPRC):c.3304C>T (p.Arg1102Cys)
|
rs760921606
|
|
NM_002838.5(PTPRC):c.3309C>A (p.Val1103=)
|
|
|
NM_002838.5(PTPRC):c.3309C>T (p.Val1103=)
|
|
|
NM_002838.5(PTPRC):c.3320_3321delinsCCATTTGTTTC (p.Arg1107delinsThrIleCysPhe)
|
|
|
NM_002838.5(PTPRC):c.3330+14T>G
|
|
|
NM_002838.5(PTPRC):c.3330+17G>T
|
|
|
NM_002838.5(PTPRC):c.3330+18G>A
|
|
|
NM_002838.5(PTPRC):c.3330+20A>C
|
|
|
NM_002838.5(PTPRC):c.3330+2T>C
|
|
|
NM_002838.5(PTPRC):c.3330+8A>C
|
|
|
NM_002838.5(PTPRC):c.3330+8A>G
|
rs768598929
|
|
NM_002838.5(PTPRC):c.3331-20C>T
|
|
|
NM_002838.5(PTPRC):c.3331-8_3331-5dup
|
|
|
NM_002838.5(PTPRC):c.3331-9T>C
|
|
|
NM_002838.5(PTPRC):c.3348T>G (p.Thr1116=)
|
|
|
NM_002838.5(PTPRC):c.3349G>C (p.Val1117Leu)
|
|
|
NM_002838.5(PTPRC):c.3357G>A (p.Gln1119=)
|
|
|
NM_002838.5(PTPRC):c.3363A>G (p.Gln1121=)
|
|
|
NM_002838.5(PTPRC):c.3366T>C (p.Tyr1122=)
|
|
|
NM_002838.5(PTPRC):c.3369A>T (p.Thr1123=)
|
|
|
NM_002838.5(PTPRC):c.3383A>G (p.Glu1128Gly)
|
rs765815787
|
|
NM_002838.5(PTPRC):c.3390_3393del (p.Pro1131fs)
|
|
|
NM_002838.5(PTPRC):c.3392C>G (p.Pro1131Arg)
|
|
|
NM_002838.5(PTPRC):c.3399A>G (p.Glu1133=)
|
rs1571896551
|
|
NM_002838.5(PTPRC):c.3400C>G (p.Pro1134Ala)
|
rs1655438382
|
|
NM_002838.5(PTPRC):c.3402C>G (p.Pro1134=)
|
|
|
NM_002838.5(PTPRC):c.3405G>A (p.Lys1135=)
|
|
|
NM_002838.5(PTPRC):c.3409T>C (p.Leu1137=)
|
|
|
NM_002838.5(PTPRC):c.3421A>G (p.Ile1141Val)
|
rs982132187
|
|
NM_002838.5(PTPRC):c.3428T>C (p.Val1143Ala)
|
rs758217317
|
|
NM_002838.5(PTPRC):c.342C>T (p.Asp114=)
|
|
|
NM_002838.5(PTPRC):c.3475C>G (p.His1159Asp)
|
rs959940059
|
|
NM_002838.5(PTPRC):c.3485G>A (p.Ser1162Asn)
|
rs2102548671
|
|
NM_002838.5(PTPRC):c.3492T>G (p.Pro1164=)
|
|
|
NM_002838.5(PTPRC):c.3509+10A>T
|
|
|
NM_002838.5(PTPRC):c.3509+13T>G
|
rs1655447601
|
|
NM_002838.5(PTPRC):c.3509+18G>C
|
|
|
NM_002838.5(PTPRC):c.3509+9G>A
|
|
|
NM_002838.5(PTPRC):c.3510-11T>C
|
|
|
NM_002838.5(PTPRC):c.3510-14_3510-10del
|
|
|
NM_002838.5(PTPRC):c.3510-15T>C
|
|
|
NM_002838.5(PTPRC):c.3510-16TTTC[3]
|
|
|
NM_002838.5(PTPRC):c.3510-17_3510-14del
|
|
|
NM_002838.5(PTPRC):c.3510-18C>T
|
|
|
NM_002838.5(PTPRC):c.3510-19T>C
|
|
|
NM_002838.5(PTPRC):c.3510-4A>T
|
|
|
NM_002838.5(PTPRC):c.351G>A (p.Thr117=)
|
rs1486618818
|
|
NM_002838.5(PTPRC):c.3528G>A (p.Thr1176=)
|
|
|
NM_002838.5(PTPRC):c.352C>A (p.Pro118Thr)
|
rs1553237882
|
|
NM_002838.5(PTPRC):c.3537T>C (p.Phe1179=)
|
rs191520732
|
|
NM_002838.5(PTPRC):c.3539G>A (p.Cys1180Tyr)
|
rs1294347017
|
|
NM_002838.5(PTPRC):c.3542C>T (p.Ala1181Val)
|
|
|
NM_002838.5(PTPRC):c.3544T>C (p.Leu1182=)
|
|
|
NM_002838.5(PTPRC):c.354C>G (p.Pro118=)
|
|
|
NM_002838.5(PTPRC):c.3559G>A (p.Glu1187Lys)
|
rs751348881
|
|
NM_002838.5(PTPRC):c.3564T>C (p.Ser1188=)
|
|
|
NM_002838.5(PTPRC):c.3584T>C (p.Val1195Ala)
|
|
|
NM_002838.5(PTPRC):c.3603A>G (p.Val1201=)
|
|
|
NM_002838.5(PTPRC):c.3630C>A (p.Gly1210=)
|
|
|
NM_002838.5(PTPRC):c.3632T>C (p.Met1211Thr)
|
|
|
NM_002838.5(PTPRC):c.3642A>G (p.Thr1214=)
|
|
|
NM_002838.5(PTPRC):c.3645+15C>T
|
|
|
NM_002838.5(PTPRC):c.3645+17del
|
|
|
NM_002838.5(PTPRC):c.3645+18T>C
|
|
|
NM_002838.5(PTPRC):c.3645+18T>G
|
|
|
NM_002838.5(PTPRC):c.3645+19T>G
|
|
|
NM_002838.5(PTPRC):c.3645+2T>G
|
|
|
NM_002838.5(PTPRC):c.3645+9C>A
|
|
|
NM_002838.5(PTPRC):c.3645C>T (p.Phe1215=)
|
rs1558042118
|
|
NM_002838.5(PTPRC):c.3646-14_3646-11dup
|
|
|
NM_002838.5(PTPRC):c.3646-17_3646-14dup
|
|
|
NM_002838.5(PTPRC):c.3646-4C>T
|
|
|
NM_002838.5(PTPRC):c.3646-5A>C
|
|
|
NM_002838.5(PTPRC):c.3663A>T (p.Leu1221=)
|
|
|
NM_002838.5(PTPRC):c.3667G>A (p.Asp1223Asn)
|
|
|
NM_002838.5(PTPRC):c.3669C>T (p.Asp1223=)
|
|
|
NM_002838.5(PTPRC):c.3672C>A (p.Val1224=)
|
|
|
NM_002838.5(PTPRC):c.3684C>G (p.Thr1228=)
|
|
|
NM_002838.5(PTPRC):c.3699T>C (p.Asn1233=)
|
|
|
NM_002838.5(PTPRC):c.3714A>G (p.Lys1238=)
|
|
|
NM_002838.5(PTPRC):c.3723_3725dup (p.His1241_Gln1242insHis)
|
|
|
NM_002838.5(PTPRC):c.3726A>G (p.Gln1242=)
|
|
|
NM_002838.5(PTPRC):c.3736A>C (p.Ile1246Leu)
|
rs1655632255
|
|
NM_002838.5(PTPRC):c.374A>G (p.Gln125Arg)
|
|
|
NM_002838.5(PTPRC):c.3750T>C (p.Asn1250=)
|
|
|
NM_002838.5(PTPRC):c.3753A>G (p.Glu1251=)
|
|
|
NM_002838.5(PTPRC):c.3757G>A (p.Asp1253Asn)
|
rs752249753
|
|
NM_002838.5(PTPRC):c.3759C>T (p.Asp1253=)
|
|
|
NM_002838.5(PTPRC):c.376A>T (p.Thr126Ser)
|
|
|
NM_002838.5(PTPRC):c.3776C>G (p.Ala1259Gly)
|
rs61757806
|
|
NM_002838.5(PTPRC):c.3777T>C (p.Ala1259=)
|
rs2102560154
|
|
NM_002838.5(PTPRC):c.3783T>C (p.Cys1261=)
|
|
|
NM_002838.5(PTPRC):c.3784G>C (p.Val1262Leu)
|
rs1655635880
|
|
NM_002838.5(PTPRC):c.3786T>C (p.Val1262=)
|
rs2102560208
|
|
NM_002838.5(PTPRC):c.3786T>G (p.Val1262=)
|
|
|
NM_002838.5(PTPRC):c.3789T>C (p.Asn1263=)
|
|
|
NM_002838.5(PTPRC):c.3791C>T (p.Pro1264Leu)
|
rs1655636285
|
|
NM_002838.5(PTPRC):c.380T>C (p.Phe127Ser)
|
|
|
NM_002838.5(PTPRC):c.381C>G (p.Phe127Leu)
|
rs2102393632
|
|
NM_002838.5(PTPRC):c.3822A>T (p.Ala1274=)
|
|
|
NM_002838.5(PTPRC):c.3834T>G (p.Ala1278=)
|
|
|
NM_002838.5(PTPRC):c.3843T>C (p.Ser1281=)
|
|
|
NM_002838.5(PTPRC):c.3849C>T (p.Pro1283=)
|
|
|
NM_002838.5(PTPRC):c.3851C>T (p.Thr1284Met)
|
rs762501047
|
|
NM_002838.5(PTPRC):c.3852G>A (p.Thr1284=)
|
|
|
NM_002838.5(PTPRC):c.3852G>T (p.Thr1284=)
|
|
|
NM_002838.5(PTPRC):c.3858C>T (p.Gly1286=)
|
rs1655642419
|
|
NM_002838.5(PTPRC):c.3867G>A (p.Gly1289=)
|
|
|
NM_002838.5(PTPRC):c.3870A>G (p.Pro1290=)
|
|
|
NM_002838.5(PTPRC):c.3885T>C (p.Asn1295=)
|
|
|
NM_002838.5(PTPRC):c.3888T>G (p.Gly1296=)
|
|
|
NM_002838.5(PTPRC):c.3889C>T (p.Pro1297Ser)
|
rs2102560805
|
|
NM_002838.5(PTPRC):c.388T>G (p.Ser130Ala)
|
|
|
NM_002838.5(PTPRC):c.3891T>C (p.Pro1297=)
|
|
|
NM_002838.5(PTPRC):c.3894A>T (p.Ala1298=)
|
|
|
NM_002838.5(PTPRC):c.390C>T (p.Ser130=)
|
|
|
NM_002838.5(PTPRC):c.3914G>A (p.Gly1305Asp)
|
rs148331492
|
|
NM_002838.5(PTPRC):c.3915T>G (p.Gly1305=)
|
|
|
NM_002838.5(PTPRC):c.3919T>C (p.Ter1307Gln)
|
|
|
NM_002838.5(PTPRC):c.393C>A (p.Ala131=)
|
|
|
NM_002838.5(PTPRC):c.395C>G (p.Ala132Gly)
|
rs1571847562
|
|
NM_002838.5(PTPRC):c.411C>T (p.Asn137=)
|
|
|
NM_002838.5(PTPRC):c.429T>C (p.Asn143=)
|
|
|
NM_002838.5(PTPRC):c.439+10T>C
|
|
|
NM_002838.5(PTPRC):c.439+15T>A
|
|
|
NM_002838.5(PTPRC):c.439+15T>C
|
|
|
NM_002838.5(PTPRC):c.439+17G>A
|
|
|
NM_002838.5(PTPRC):c.439+7G>A
|
|
|
NM_002838.5(PTPRC):c.439+7G>C
|
|
|
NM_002838.5(PTPRC):c.440-10C>T
|
|
|
NM_002838.5(PTPRC):c.441T>C (p.Asp147=)
|
|
|
NM_002838.5(PTPRC):c.459T>C (p.Ser153=)
|
|
|
NM_002838.5(PTPRC):c.477T>C (p.Pro159=)
|
rs2102401085
|
|
NM_002838.5(PTPRC):c.496T>C (p.Leu166=)
|
|
|
NM_002838.5(PTPRC):c.498G>A (p.Leu166=)
|
rs750674861
|
|
NM_002838.5(PTPRC):c.498G>T (p.Leu166Phe)
|
rs750674861
|
|
NM_002838.5(PTPRC):c.500C>T (p.Thr167Ile)
|
rs1666509501
|
|
NM_002838.5(PTPRC):c.503C>A (p.Thr168Asn)
|
rs780009687
|
|
NM_002838.5(PTPRC):c.519A>T (p.Ala173=)
|
|
|
NM_002838.5(PTPRC):c.521A>G (p.His174Arg)
|
rs1666510866
|
|
NM_002838.5(PTPRC):c.522C>T (p.His174=)
|
|
|
NM_002838.5(PTPRC):c.523C>T (p.His175Tyr)
|
rs758362738
|
|
NM_002838.5(PTPRC):c.528C>T (p.Ser176=)
|
|
|
NM_002838.5(PTPRC):c.52G>A (p.Asp18Asn)
|
rs781080051
|
|
NM_002838.5(PTPRC):c.535G>A (p.Ala179Thr)
|
rs1558008164
|
|
NM_002838.5(PTPRC):c.552C>T (p.Thr184=)
|
|
|
NM_002838.5(PTPRC):c.558C>T (p.Asn186=)
|
|
|
NM_002838.5(PTPRC):c.561C>T (p.Thr187=)
|
|
|
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn)
|
rs201715157
|
|
NM_002838.5(PTPRC):c.570A>G (p.Thr190=)
|
rs1666513783
|
|
NM_002838.5(PTPRC):c.573G>A (p.Ala191=)
|
|
|
NM_002838.5(PTPRC):c.576C>T (p.Asn192=)
|
|
|
NM_002838.5(PTPRC):c.576_577inv (p.Thr193Ala)
|
|
|
NM_002838.5(PTPRC):c.583+15C>T
|
|
|
NM_002838.5(PTPRC):c.583+16T>C
|
|
|
NM_002838.5(PTPRC):c.583+1G>T
|
|
|
NM_002838.5(PTPRC):c.583+20G>C
|
|
|
NM_002838.5(PTPRC):c.583+9A>C
|
|
|
NM_002838.5(PTPRC):c.584-13C>A
|
|
|
NM_002838.5(PTPRC):c.584-16A>C
|
|
|
NM_002838.5(PTPRC):c.584-16A>G
|
|
|
NM_002838.5(PTPRC):c.584-17T>C
|
rs2102403007
|
|
NM_002838.5(PTPRC):c.584-18C>T
|
|
|
NM_002838.5(PTPRC):c.584-4G>A
|
|
|
NM_002838.5(PTPRC):c.590del (p.Tyr197fs)
|
|
|
NM_002838.5(PTPRC):c.593T>G (p.Leu198Arg)
|
|
|
NM_002838.5(PTPRC):c.597T>C (p.Asn199=)
|
|
|
NM_002838.5(PTPRC):c.600C>G (p.Ala200=)
|
|
|
NM_002838.5(PTPRC):c.601T>G (p.Ser201Ala)
|
|
|
NM_002838.5(PTPRC):c.606A>G (p.Glu202=)
|
rs374110904
|
|
NM_002838.5(PTPRC):c.612C>G (p.Thr204=)
|
|
|
NM_002838.5(PTPRC):c.615T>C (p.Thr205=)
|
|
|
NM_002838.5(PTPRC):c.615T>G (p.Thr205=)
|
|
|
NM_002838.5(PTPRC):c.618G>A (p.Leu206=)
|
|
|
NM_002838.5(PTPRC):c.633C>T (p.Ser211=)
|
|
|
NM_002838.5(PTPRC):c.634G>A (p.Ala212Thr)
|
|
|
NM_002838.5(PTPRC):c.640A>G (p.Ile214Val)
|
|
|
NM_002838.5(PTPRC):c.648C>G (p.Thr216=)
|
|
|
NM_002838.5(PTPRC):c.658+16G>A
|
|
|
NM_002838.5(PTPRC):c.658+16G>C
|
|
|
NM_002838.5(PTPRC):c.658+19A>G
|
|
|
NM_002838.5(PTPRC):c.658+9A>G
|
|
|
NM_002838.5(PTPRC):c.659-11C>A
|
|
|
NM_002838.5(PTPRC):c.659-12T>C
|
|
|
NM_002838.5(PTPRC):c.659-12del
|
rs539544931
|
|
NM_002838.5(PTPRC):c.659-12dup
|
rs539544931
|
|
NM_002838.5(PTPRC):c.659-18T>A
|
|
|
NM_002838.5(PTPRC):c.659-18T>C
|
rs140243082
|
|
NM_002838.5(PTPRC):c.659-18T>G
|
|
|
NM_002838.5(PTPRC):c.659-2A>G
|
|
|
NM_002838.5(PTPRC):c.659-3C>T
|
rs1402688012
|
|
NM_002838.5(PTPRC):c.660T>C (p.Ala220=)
|
|
|
NM_002838.5(PTPRC):c.675G>A (p.Lys225=)
|
|
|
NM_002838.5(PTPRC):c.685+18G>T
|
|
|
NM_002838.5(PTPRC):c.686-12A>C
|
|
|
NM_002838.5(PTPRC):c.686-13T>C
|
|
|
NM_002838.5(PTPRC):c.686-14C>T
|
|
|
NM_002838.5(PTPRC):c.686-19A>G
|
|
|
NM_002838.5(PTPRC):c.686-1G>T
|
|
|
NM_002838.5(PTPRC):c.686-6T>C
|
|
|
NM_002838.5(PTPRC):c.690A>G (p.Glu230=)
|
|
|
NM_002838.5(PTPRC):c.699A>T (p.Ala233=)
|
rs2102411554
|
|
NM_002838.5(PTPRC):c.6C>T (p.Thr2=)
|
|
|
NM_002838.5(PTPRC):c.701A>G (p.Asn234Ser)
|
rs1652993977
|
|
NM_002838.5(PTPRC):c.711G>A (p.Val237=)
|
|
|
NM_002838.5(PTPRC):c.712G>C (p.Asp238His)
|
rs1571855329
|
|
NM_002838.5(PTPRC):c.717C>T (p.Tyr239=)
|
|
|
NM_002838.5(PTPRC):c.720A>G (p.Leu240=)
|
|
|
NM_002838.5(PTPRC):c.73+11G>A
|
|
|
NM_002838.5(PTPRC):c.73+13A>T
|
|
|
NM_002838.5(PTPRC):c.73+18A>G
|
|
|
NM_002838.5(PTPRC):c.73+19A>G
|
|
|
NM_002838.5(PTPRC):c.73+1G>A
|
|
|
NM_002838.5(PTPRC):c.73+8C>T
|
|
|
NM_002838.5(PTPRC):c.73+9A>G
|
|
|
NM_002838.5(PTPRC):c.735T>G (p.Thr245=)
|
|
|
NM_002838.5(PTPRC):c.739T>C (p.Leu247=)
|
|
|
NM_002838.5(PTPRC):c.744T>C (p.Phe248=)
|
|
|
NM_002838.5(PTPRC):c.750A>G (p.Ala250=)
|
|
|
NM_002838.5(PTPRC):c.768G>C (p.Glu256Asp)
|
rs780129489
|
|
NM_002838.5(PTPRC):c.768G>T (p.Glu256Asp)
|
|
|
NM_002838.5(PTPRC):c.789T>C (p.Asn263=)
|
|
|
NM_002838.5(PTPRC):c.799A>G (p.Asn267Asp)
|
rs2102411892
|
|
NM_002838.5(PTPRC):c.816C>T (p.Asn272=)
|
|
|
NM_002838.5(PTPRC):c.821C>T (p.Thr274Ile)
|
rs1653004183
|
|
NM_002838.5(PTPRC):c.825A>G (p.Glu275=)
|
|
|
NM_002838.5(PTPRC):c.834T>C (p.Asn278=)
|
|
|
NM_002838.5(PTPRC):c.835G>A (p.Ala279Thr)
|
rs1189209220
|
|
NM_002838.5(PTPRC):c.836C>T (p.Ala279Val)
|
|
|
NM_002838.5(PTPRC):c.847A>G (p.Ile283Val)
|
rs1240486262
|
|
NM_002838.5(PTPRC):c.855T>C (p.His285=)
|
|
|
NM_002838.5(PTPRC):c.861A>G (p.Ser287=)
|
|
|
NM_002838.5(PTPRC):c.871C>T (p.Pro291Ser)
|
|
|
NM_002838.5(PTPRC):c.873T>A (p.Pro291=)
|
|
|
NM_002838.5(PTPRC):c.876T>A (p.Asp292Glu)
|
rs1653007816
|
|
NM_002838.5(PTPRC):c.876T>C (p.Asp292=)
|
|
|
NM_002838.5(PTPRC):c.879G>A (p.Lys293=)
|
rs550654304
|
|
NM_002838.5(PTPRC):c.894T>C (p.Asp298=)
|
|
|
NM_002838.5(PTPRC):c.900A>T (p.Pro300=)
|
|
|
NM_002838.5(PTPRC):c.904+11A>G
|
|
|
NM_002838.5(PTPRC):c.904+13T>G
|
|
|
NM_002838.5(PTPRC):c.904+15A>G
|
|
|
NM_002838.5(PTPRC):c.904+19C>A
|
|
|
NM_002838.5(PTPRC):c.905-13A>G
|
|
|
NM_002838.5(PTPRC):c.905-2A>G
|
rs2102415377
|
|
NM_002838.5(PTPRC):c.905G>T (p.Gly302Val)
|
rs1653097095
|
|
NM_002838.5(PTPRC):c.906G>C (p.Gly302=)
|
|
|
NM_002838.5(PTPRC):c.909T>C (p.Val303=)
|
|
|
NM_002838.5(PTPRC):c.920A>G (p.Gln307Arg)
|
rs1553239425
|
|
NM_002838.5(PTPRC):c.926A>G (p.His309Arg)
|
rs1279900525
|
|
NM_002838.5(PTPRC):c.933T>C (p.Cys311=)
|
rs766607810
|
|
NM_002838.5(PTPRC):c.993T>C (p.Phe331=)
|
|
|
NM_002838.5(PTPRC):c.9G>C (p.Met3Ile)
|
rs1662439770
|
|
NM_007074.4(CORO1A):c.1002C>T (p.Ile334=)
|
rs377351892
|
|
NM_007074.4(CORO1A):c.1007+14G>A
|
|
|
NM_007074.4(CORO1A):c.1007+15dup
|
|
|
NM_007074.4(CORO1A):c.1007+1G>A
|
rs2151063274
|
|
NM_007074.4(CORO1A):c.1007+8del
|
|
|
NM_007074.4(CORO1A):c.1008-10C>T
|
|
|
NM_007074.4(CORO1A):c.1008-8T>A
|
|
|
NM_007074.4(CORO1A):c.1020G>A (p.Leu340=)
|
|
|
NM_007074.4(CORO1A):c.1023C>T (p.His341=)
|
|
|
NM_007074.4(CORO1A):c.103T>C (p.Trp35Arg)
|
|
|
NM_007074.4(CORO1A):c.1065+13C>T
|
|
|
NM_007074.4(CORO1A):c.1065+13del
|
|
|
NM_007074.4(CORO1A):c.1065+15C>T
|
|
|
NM_007074.4(CORO1A):c.1065+2T>C
|
rs112728974
|
|
NM_007074.4(CORO1A):c.1066-13G>A
|
|
|
NM_007074.4(CORO1A):c.1066-3_1066-2del
|
rs2151063462
|
|
NM_007074.4(CORO1A):c.1066-8G>A
|
|
|
NM_007074.4(CORO1A):c.1068G>A (p.Ser356=)
|
|
|
NM_007074.4(CORO1A):c.1068G>C (p.Ser356=)
|
|
|
NM_007074.4(CORO1A):c.1078del (p.Gln360fs)
|
rs606231256
|
|
NM_007074.4(CORO1A):c.1080G>A (p.Gln360=)
|
|
|
NM_007074.4(CORO1A):c.1085A>T (p.Asp362Val)
|
rs2151063474
|
|
NM_007074.4(CORO1A):c.1089G>A (p.Leu363=)
|
|
|
NM_007074.4(CORO1A):c.1098C>T (p.Pro366=)
|
|
|
NM_007074.4(CORO1A):c.1100C>G (p.Thr367Ser)
|
|
|
NM_007074.4(CORO1A):c.1102G>T (p.Ala368Ser)
|
rs1028173314
|
|
NM_007074.4(CORO1A):c.1115C>G (p.Pro372Arg)
|
|
|
NM_007074.4(CORO1A):c.1122C>A (p.Leu374=)
|
|
|
NM_007074.4(CORO1A):c.1124C>G (p.Thr375Arg)
|
|
|
NM_007074.4(CORO1A):c.1127C>G (p.Ala376Gly)
|
|
|
NM_007074.4(CORO1A):c.1134G>A (p.Glu378=)
|
|
|
NM_007074.4(CORO1A):c.1156G>A (p.Gly386Arg)
|
|
|
NM_007074.4(CORO1A):c.1161C>G (p.Pro387=)
|
rs375181897
|
|
NM_007074.4(CORO1A):c.1172C>T (p.Ser391Phe)
|
|
|
NM_007074.4(CORO1A):c.1180G>A (p.Asp394Asn)
|
|
|
NM_007074.4(CORO1A):c.1188C>T (p.Tyr396=)
|
rs151106018
|
|
NM_007074.4(CORO1A):c.1192C>T (p.Pro398Ser)
|
rs2073374467
|
|
NM_007074.4(CORO1A):c.1195C>T (p.Pro399Ser)
|
|
|
NM_007074.4(CORO1A):c.1204C>A (p.Arg402=)
|
rs150186033
|
|
NM_007074.4(CORO1A):c.1204C>T (p.Arg402Trp)
|
rs150186033
|
|
NM_007074.4(CORO1A):c.1210C>G (p.Leu404Val)
|
|
|
NM_007074.4(CORO1A):c.1212G>A (p.Leu404=)
|
|
|
NM_007074.4(CORO1A):c.1212G>C (p.Leu404=)
|
rs1180511300
|
|
NM_007074.4(CORO1A):c.1218C>T (p.Val406=)
|
|
|
NM_007074.4(CORO1A):c.1233C>T (p.Asp411=)
|
|
|
NM_007074.4(CORO1A):c.1234A>G (p.Thr412Ala)
|
|
|
NM_007074.4(CORO1A):c.1247G>A (p.Arg416Lys)
|
rs1555491117
|
|
NM_007074.4(CORO1A):c.1249dup (p.Ala417fs)
|
|
|
NM_007074.4(CORO1A):c.1251A>G (p.Ala417=)
|
|
|
NM_007074.4(CORO1A):c.1269C>T (p.Gly423=)
|
|
|
NM_007074.4(CORO1A):c.1281G>A (p.Ser427=)
|
rs2073377701
|
|
NM_007074.4(CORO1A):c.128A>G (p.Asn43Ser)
|
rs917206144
|
|
NM_007074.4(CORO1A):c.129C>T (p.Asn43=)
|
|
|
NM_007074.4(CORO1A):c.147G>A (p.Leu49=)
|
|
|
NM_007074.4(CORO1A):c.186G>C (p.Leu62=)
|
|
|
NM_007074.4(CORO1A):c.188C>G (p.Pro63Arg)
|
|
|
NM_007074.4(CORO1A):c.195_198+13dup
|
|
|
NM_007074.4(CORO1A):c.198+13G>C
|
|
|
NM_007074.4(CORO1A):c.198+20G>C
|
|
|
NM_007074.4(CORO1A):c.198+3G>A
|
|
|
NM_007074.4(CORO1A):c.199-10G>A
|
rs755864918
|
|
NM_007074.4(CORO1A):c.199-15C>T
|
|
|
NM_007074.4(CORO1A):c.199-18G>A
|
rs1209635665
|
|
NM_007074.4(CORO1A):c.199-20A>T
|
|
|
NM_007074.4(CORO1A):c.19C>T (p.Arg7Cys)
|
|
|
NM_007074.4(CORO1A):c.205C>T (p.Arg69Cys)
|
rs2073337013
|
|
NM_007074.4(CORO1A):c.221C>T (p.Ala74Val)
|
|
|
NM_007074.4(CORO1A):c.228G>A (p.Thr76=)
|
rs781250172
|
|
NM_007074.4(CORO1A):c.23C>T (p.Ser8Phe)
|
rs763479989
|
|
NM_007074.4(CORO1A):c.248_249del (p.Pro83fs)
|
rs606231246
|
|
NM_007074.4(CORO1A):c.249T>A (p.Pro83=)
|
|
|
NM_007074.4(CORO1A):c.249T>C (p.Pro83=)
|
|
|
NM_007074.4(CORO1A):c.249T>G (p.Pro83=)
|
|
|
NM_007074.4(CORO1A):c.255A>G (p.Leu85=)
|
|
|
NM_007074.4(CORO1A):c.255A>T (p.Leu85=)
|
|
|
NM_007074.4(CORO1A):c.259A>G (p.Ile87Val)
|
rs2151062377
|
|
NM_007074.4(CORO1A):c.263C>G (p.Ala88Gly)
|
rs2073337779
|
|
NM_007074.4(CORO1A):c.273G>T (p.Pro91=)
|
rs141844867
|
|
NM_007074.4(CORO1A):c.303C>T (p.Ser101=)
|
|
|
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs)
|
rs2151062416
|
|
NM_007074.4(CORO1A):c.321+14G>A
|
rs1596918002
|
|
NM_007074.4(CORO1A):c.321+15G>T
|
|
|
NM_007074.4(CORO1A):c.321+5G>A
|
|
|
NM_007074.4(CORO1A):c.321G>A (p.Met107Ile)
|
|
|
NM_007074.4(CORO1A):c.322-14C>A
|
|
|
NM_007074.4(CORO1A):c.322-5T>C
|
|
|
NM_007074.4(CORO1A):c.333C>A (p.Ile111=)
|
rs767834047
|
|
NM_007074.4(CORO1A):c.339T>G (p.Asp113Glu)
|
rs2073340380
|
|
NM_007074.4(CORO1A):c.350T>C (p.Met117Thr)
|
|
|
NM_007074.4(CORO1A):c.352C>T (p.Leu118=)
|
|
|
NM_007074.4(CORO1A):c.35G>T (p.Arg12Leu)
|
|
|
NM_007074.4(CORO1A):c.365A>G (p.Glu122Gly)
|
rs2151062494
|
|
NM_007074.4(CORO1A):c.367C>A (p.Pro123Thr)
|
rs201721540
|
|
NM_007074.4(CORO1A):c.370G>A (p.Val124Ile)
|
rs775411755
|
|
NM_007074.4(CORO1A):c.373G>T (p.Val125Phe)
|
rs143294920
|
|
NM_007074.4(CORO1A):c.374T>C (p.Val125Ala)
|
rs2151062508
|
|
NM_007074.4(CORO1A):c.39C>T (p.His13=)
|
|
|
NM_007074.4(CORO1A):c.42G>C (p.Val14=)
|
rs754614186
|
|
NM_007074.4(CORO1A):c.435C>G (p.Asn145Lys)
|
rs762584647
|
|
NM_007074.4(CORO1A):c.451+11A>G
|
|
|
NM_007074.4(CORO1A):c.451+16G>A
|
|
|
NM_007074.4(CORO1A):c.451+7C>G
|
|
|
NM_007074.4(CORO1A):c.452-12G>C
|
|
|
NM_007074.4(CORO1A):c.452-14_452-13del
|
rs779167045
|
|
NM_007074.4(CORO1A):c.460_462del (p.Asn154del)
|
rs1419951155
|
|
NM_007074.4(CORO1A):c.471G>T (p.Met157Ile)
|
|
|
NM_007074.4(CORO1A):c.494C>T (p.Ala165Val)
|
|
|
NM_007074.4(CORO1A):c.517G>T (p.Glu173Ter)
|
|
|
NM_007074.4(CORO1A):c.534G>A (p.Thr178=)
|
|
|
NM_007074.4(CORO1A):c.546G>A (p.Val182=)
|
rs2151062652
|
|
NM_007074.4(CORO1A):c.549C>G (p.Asp183Glu)
|
|
|
NM_007074.4(CORO1A):c.54G>A (p.Pro18=)
|
rs61736363
|
|
NM_007074.4(CORO1A):c.582C>A (p.Ser194=)
|
|
|
NM_007074.4(CORO1A):c.609C>T (p.Ile203=)
|
|
|
NM_007074.4(CORO1A):c.615C>T (p.Pro205=)
|
|
|
NM_007074.4(CORO1A):c.616C>T (p.Arg206Cys)
|
rs1172804903
|
|
NM_007074.4(CORO1A):c.630C>T (p.Val210=)
|
rs139989282
|
|
NM_007074.4(CORO1A):c.636+15_636+17del
|
|
|
NM_007074.4(CORO1A):c.636+18C>T
|
|
|
NM_007074.4(CORO1A):c.636+20G>A
|
|
|
NM_007074.4(CORO1A):c.636+3G>C
|
rs2073349993
|
|
NM_007074.4(CORO1A):c.636+7C>T
|
|
|
NM_007074.4(CORO1A):c.636+9C>T
|
rs1596919212
|
|
NM_007074.4(CORO1A):c.637-14C>T
|
rs1383576912
|
|
NM_007074.4(CORO1A):c.63C>A (p.Ala21=)
|
|
|
NM_007074.4(CORO1A):c.646C>T (p.Arg216Cys)
|
|
|
NM_007074.4(CORO1A):c.672G>C (p.Val224=)
|
|
|
NM_007074.4(CORO1A):c.673C>T (p.Arg225Cys)
|
rs2151062848
|
|
NM_007074.4(CORO1A):c.674_677del (p.Arg225fs)
|
rs1213680890
|
|
NM_007074.4(CORO1A):c.684C>T (p.Phe228=)
|
|
|
NM_007074.4(CORO1A):c.685G>C (p.Val229Leu)
|
rs757965812
|
|
NM_007074.4(CORO1A):c.696G>A (p.Gly232=)
|
rs1375696589
|
|
NM_007074.4(CORO1A):c.711G>A (p.Thr237=)
|
|
|
NM_007074.4(CORO1A):c.735G>A (p.Arg245=)
|
|
|
NM_007074.4(CORO1A):c.743C>T (p.Ala248Val)
|
|
|
NM_007074.4(CORO1A):c.744G>A (p.Ala248=)
|
|
|
NM_007074.4(CORO1A):c.756+11G>A
|
rs760892904
|
|
NM_007074.4(CORO1A):c.756+12G>A
|
rs776430488
|
|
NM_007074.4(CORO1A):c.756_756+1del
|
|
|
NM_007074.4(CORO1A):c.757-15C>A
|
rs2151063033
|
|
NM_007074.4(CORO1A):c.757-16T>G
|
rs2151063032
|
|
NM_007074.4(CORO1A):c.757-17_757-16insGA
|
rs2151063030
|
|
NM_007074.4(CORO1A):c.757-18T>C
|
|
|
NM_007074.4(CORO1A):c.760C>T (p.His254Tyr)
|
|
|
NM_007074.4(CORO1A):c.764T>C (p.Leu255Pro)
|
rs1416150566
|
|
NM_007074.4(CORO1A):c.768G>A (p.Glu256=)
|
rs2151063049
|
|
NM_007074.4(CORO1A):c.773C>T (p.Pro258Leu)
|
rs2151063054
|
|
NM_007074.4(CORO1A):c.781C>T (p.Leu261=)
|
rs2151063062
|
|
NM_007074.4(CORO1A):c.795C>T (p.Asp265=)
|
rs2151063067
|
|
NM_007074.4(CORO1A):c.82G>A (p.Val28Met)
|
|
|
NM_007074.4(CORO1A):c.843C>T (p.Ile281=)
|
rs199650298
|
|
NM_007074.4(CORO1A):c.855_856del (p.Cys285fs)
|
rs2151063096
|
|
NM_007074.4(CORO1A):c.861+10T>C
|
|
|
NM_007074.4(CORO1A):c.861+12G>A
|
|
|
NM_007074.4(CORO1A):c.861+14G>A
|
rs2151063106
|
|
NM_007074.4(CORO1A):c.861+24_861+29del
|
rs1376852495
|
|
NM_007074.4(CORO1A):c.861+9G>A
|
|
|
NM_007074.4(CORO1A):c.862-14C>A
|
rs373178145
|
|
NM_007074.4(CORO1A):c.862-15A>C
|
rs2151063206
|
|
NM_007074.4(CORO1A):c.862-7C>T
|
|
|
NM_007074.4(CORO1A):c.868A>T (p.Ser290Cys)
|
rs1185423790
|
|
NM_007074.4(CORO1A):c.878G>A (p.Arg293Gln)
|
|
|
NM_007074.4(CORO1A):c.882C>T (p.Tyr294=)
|
|
|
NM_007074.4(CORO1A):c.903C>T (p.Ala301=)
|
|
|
NM_007074.4(CORO1A):c.915C>T (p.His305=)
|
|
|
NM_007074.4(CORO1A):c.954C>A (p.Gly318=)
|
|
|
NM_007074.4(CORO1A):c.954C>G (p.Gly318=)
|
|
|
NM_007074.4(CORO1A):c.958G>A (p.Gly320Ser)
|
rs2151063251
|
|
NM_007074.4(CORO1A):c.969C>A (p.Pro323=)
|
rs1555490997
|
|
NM_007074.4(CORO1A):c.973C>T (p.Arg325Cys)
|
rs757576567
|
|
NM_007074.4(CORO1A):c.974G>A (p.Arg325His)
|
rs1218173437
|
|
NM_198053.3(CD247):c.112A>G (p.Ile38Val)
|
rs749227138
|
|
NM_198053.3(CD247):c.128G>T (p.Gly43Val)
|
rs1557996000
|
|
NM_198053.3(CD247):c.151C>T (p.Leu51=)
|
|
|
NM_198053.3(CD247):c.15G>T (p.Ala5=)
|
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NM_198053.3(CD247):c.162+15G>A
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NM_198053.3(CD247):c.162+15G>T
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NM_198053.3(CD247):c.162+7A>G
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NM_198053.3(CD247):c.162+8C>A
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rs1571515476
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NM_198053.3(CD247):c.163-13T>C
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NM_198053.3(CD247):c.182C>T (p.Ala61Val)
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NM_198053.3(CD247):c.187G>C (p.Ala63Pro)
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rs55893506
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NM_198053.3(CD247):c.191A>G (p.Tyr64Cys)
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NM_198053.3(CD247):c.206A>C (p.Asn69Thr)
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NM_198053.3(CD247):c.219+10C>T
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NM_198053.3(CD247):c.219+13C>G
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rs2101994086
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NM_198053.3(CD247):c.219+13C>T
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rs2101994086
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NM_198053.3(CD247):c.219+16C>G
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rs12141641
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NM_198053.3(CD247):c.222G>A (p.Glu74=)
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NM_198053.3(CD247):c.227A>G (p.Asn76Ser)
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rs943679483
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NM_198053.3(CD247):c.235C>G (p.Arg79Gly)
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rs779397562
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NM_198053.3(CD247):c.235C>T (p.Arg79Ter)
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rs779397562
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NM_198053.3(CD247):c.24C>T (p.Thr8=)
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NM_198053.3(CD247):c.250G>A (p.Asp84Asn)
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rs753572867
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NM_198053.3(CD247):c.250G>T (p.Asp84Tyr)
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rs753572867
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NM_198053.3(CD247):c.251A>C (p.Asp84Ala)
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rs181746205
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NM_198053.3(CD247):c.25G>A (p.Ala9Thr)
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NM_198053.3(CD247):c.26C>T (p.Ala9Val)
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rs200420054
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NM_198053.3(CD247):c.291G>A (p.Gly97=)
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NM_198053.3(CD247):c.294A>G (p.Gly98=)
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rs1453205554
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NM_198053.3(CD247):c.300+11C>T
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NM_198053.3(CD247):c.300+13C>G
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NM_198053.3(CD247):c.301-14G>A
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rs373120668
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NM_198053.3(CD247):c.301-20C>T
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NM_198053.3(CD247):c.308G>A (p.Arg103Lys)
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NM_198053.3(CD247):c.309G>A (p.Arg103=)
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NM_198053.3(CD247):c.328C>T (p.Leu110=)
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NM_198053.3(CD247):c.337-11C>A
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NM_198053.3(CD247):c.337-18C>G
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NM_198053.3(CD247):c.337-4G>T
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NM_198053.3(CD247):c.337-5T>C
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NM_198053.3(CD247):c.345G>A (p.Gln115=)
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rs2101986584
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NM_198053.3(CD247):c.348A>G (p.Lys116=)
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NM_198053.3(CD247):c.350A>G (p.Asp117Gly)
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rs2101986573
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NM_198053.3(CD247):c.365C>G (p.Ala122Gly)
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NM_198053.3(CD247):c.370A>T (p.Ser124Cys)
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rs1651406974
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NM_198053.3(CD247):c.37C>A (p.Gln13Lys)
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rs751300208
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NM_198053.3(CD247):c.381G>T (p.Gly127=)
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NM_198053.3(CD247):c.390C>T (p.Gly130=)
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NM_198053.3(CD247):c.394-19T>C
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NM_198053.3(CD247):c.394-19T>G
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NM_198053.3(CD247):c.394-6_394-4del
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|
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NM_198053.3(CD247):c.394-8_394-5del
|
rs769263658
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NM_198053.3(CD247):c.395G>A (p.Arg132His)
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NM_198053.3(CD247):c.401G>A (p.Arg134Lys)
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NM_198053.3(CD247):c.417T>C (p.Asp139=)
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NM_198053.3(CD247):c.429+13G>A
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NM_198053.3(CD247):c.429+15C>T
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NM_198053.3(CD247):c.430-12C>G
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NM_198053.3(CD247):c.430-6C>A
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NM_198053.3(CD247):c.447C>T (p.Thr149=)
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NM_198053.3(CD247):c.44A>T (p.Gln15Leu)
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NM_198053.3(CD247):c.45G>C (p.Gln15His)
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NM_198053.3(CD247):c.488C>G (p.Pro163Arg)
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NM_198053.3(CD247):c.51G>A (p.Pro17=)
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NM_198053.3(CD247):c.58+11C>T
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rs375286157
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NM_198053.3(CD247):c.58+20G>C
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NM_198053.3(CD247):c.58+6G>T
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NM_198053.3(CD247):c.59-6G>T
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NM_198053.3(CD247):c.6G>A (p.Lys2=)
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NM_198053.3(CD247):c.76C>T (p.Leu26=)
|
rs1651787952
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