NM_000215.4(JAK3):c.1786+14A>C
|
rs756976635
|
0.00925
|
NM_002838.5(PTPRC):c.2848-19T>G
|
rs780758960
|
0.00458
|
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val)
|
rs116464756
|
0.00241
|
NM_007074.4(CORO1A):c.861+11C>T
|
rs547256571
|
0.00173
|
NM_002838.5(PTPRC):c.3510-3T>C
|
rs142096878
|
0.00169
|
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)
|
rs144968714
|
0.00150
|
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr)
|
rs147153824
|
0.00144
|
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_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.3914G>C (p.Gly1305Ala)
|
rs148331492
|
0.00103
|
NM_000215.4(JAK3):c.252G>A (p.Pro84=)
|
rs139738701
|
0.00102
|
NM_000215.4(JAK3):c.2636A>G (p.His879Arg)
|
rs3179893
|
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_002838.5(PTPRC):c.646A>C (p.Thr216Pro)
|
rs148561683
|
0.00076
|
NM_000215.4(JAK3):c.1786+6A>T
|
rs372156975
|
0.00074
|
NM_000733.4(CD3E):c.567+6G>A
|
rs185185591
|
0.00061
|
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_002838.5(PTPRC):c.1193T>C (p.Ile398Thr)
|
rs145357582
|
0.00056
|
NM_002838.5(PTPRC):c.3687C>T (p.Tyr1229=)
|
rs145983642
|
0.00051
|
NM_002838.5(PTPRC):c.3073-6A>G
|
rs191867796
|
0.00049
|
NM_007074.4(CORO1A):c.346C>T (p.Leu116=)
|
rs138146826
|
0.00048
|
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.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_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.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.2372C>A (p.Pro791His)
|
rs1413703588
|
0.00026
|
NM_007074.4(CORO1A):c.372C>T (p.Val124=)
|
rs149599538
|
0.00025
|
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_000215.4(JAK3):c.2680+15G>A
|
rs201288968
|
0.00019
|
NM_000215.4(JAK3):c.648G>C (p.Thr216=)
|
rs200376035
|
0.00019
|
NM_002185.5(IL7R):c.1003T>C (p.Ser335Pro)
|
rs199735993
|
0.00019
|
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_002838.5(PTPRC):c.2848-20G>T
|
rs369232264
|
0.00017
|
NM_000215.4(JAK3):c.1569+14G>A
|
rs200624424
|
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_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_000206.3(IL2RG):c.269+14C>T
|
rs7879765
|
0.00012
|
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)
|
rs571404212
|
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_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.649G>A (p.Val217Met)
|
rs202167678
|
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.430-6C>T
|
rs200103990
|
0.00011
|
NM_000215.4(JAK3):c.2199+10C>G
|
rs185973755
|
0.00010
|
NM_000215.4(JAK3):c.2505C>T (p.Ser835=)
|
rs201199096
|
0.00010
|
NM_000733.4(CD3E):c.353-18C>T
|
rs201572053
|
0.00010
|
NM_002838.5(PTPRC):c.1171+19T>G
|
rs201177846
|
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_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.2592C>T (p.Ile864=)
|
rs780489279
|
0.00009
|
NM_002838.5(PTPRC):c.3073-13T>C
|
rs760582107
|
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_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_000733.4(CD3E):c.27T>G (p.Val9=)
|
rs200915775
|
0.00008
|
NM_002838.5(PTPRC):c.2823G>A (p.Pro941=)
|
rs144027458
|
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.251A>G (p.Asp84Gly)
|
rs181746205
|
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_000215.4(JAK3):c.2681-11G>T
|
rs201970522
|
0.00007
|
NM_000732.6(CD3D):c.30G>T (p.Leu10=)
|
rs202080099
|
0.00007
|
NM_000733.4(CD3E):c.103+10T>C
|
rs143015515
|
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_198053.3(CD247):c.337-14G>A
|
rs375668936
|
0.00007
|
NM_000206.3(IL2RG):c.504C>T (p.Ser168=)
|
rs752921124
|
0.00006
|
NM_000215.4(JAK3):c.1184G>A (p.Arg395His)
|
rs143038064
|
0.00006
|
NM_000215.4(JAK3):c.1914+10C>T
|
rs200964315
|
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.55+12C>A
|
rs1379953201
|
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_002838.5(PTPRC):c.2142+11A>C
|
rs375741912
|
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.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.74C>T (p.Thr25Met)
|
rs751455361
|
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_002185.5(IL7R):c.1071T>C (p.Thr357=)
|
rs142726694
|
0.00005
|
NM_002838.5(PTPRC):c.2561+16A>C
|
rs749945370
|
0.00005
|
NM_002838.5(PTPRC):c.3216T>C (p.Cys1072=)
|
rs775397726
|
0.00005
|
NM_007074.4(CORO1A):c.1065+8T>A
|
rs376878354
|
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_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.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.2350+7G>A
|
rs200658439
|
0.00004
|
NM_000215.4(JAK3):c.2535C>T (p.Gly845=)
|
rs200746503
|
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.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.665G>A (p.Arg222His)
|
rs199868795
|
0.00004
|
NM_000733.4(CD3E):c.567+10G>T
|
rs920180688
|
0.00004
|
NM_000733.4(CD3E):c.71-15C>T
|
rs749389422
|
0.00004
|
NM_002185.5(IL7R):c.1266A>G (p.Gln422=)
|
rs201755068
|
0.00004
|
NM_002185.5(IL7R):c.379+8G>A
|
rs111370546
|
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_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.1599G>A (p.Ser533=)
|
rs372045826
|
0.00004
|
NM_002838.5(PTPRC):c.261G>A (p.Pro87=)
|
rs780344153
|
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.439+8G>A
|
rs1313994959
|
0.00004
|
NM_007074.4(CORO1A):c.1007+13C>T
|
rs201613058
|
0.00004
|
NM_007074.4(CORO1A):c.1066-7C>T
|
rs767306235
|
0.00004
|
NM_007074.4(CORO1A):c.452-7C>T
|
rs368186458
|
0.00004
|
NM_007074.4(CORO1A):c.840C>T (p.Asn280=)
|
rs775074204
|
0.00004
|
NM_198053.3(CD247):c.429+12C>T
|
rs201171777
|
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.339T>C (p.Ser113=)
|
rs941308764
|
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.1786+7G>A
|
rs1011716310
|
0.00003
|
NM_000215.4(JAK3):c.2142G>A (p.Thr714=)
|
rs1473714442
|
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_000733.4(CD3E):c.70+7T>C
|
rs1344530532
|
0.00003
|
NM_002185.5(IL7R):c.221+12T>C
|
rs202090343
|
0.00003
|
NM_002185.5(IL7R):c.800+13A>G
|
rs568980414
|
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.2088C>G (p.Leu696=)
|
rs555648295
|
0.00003
|
NM_002838.5(PTPRC):c.298+20T>A
|
rs751118729
|
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.583+9A>T
|
rs775041537
|
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.757-10G>C
|
rs367708753
|
0.00003
|
NM_007074.4(CORO1A):c.861+16G>A
|
rs752677244
|
0.00003
|
NM_198053.3(CD247):c.411G>C (p.Gly137=)
|
rs148298128
|
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.294A>G (p.Lys98=)
|
rs2092261604
|
0.00002
|
NM_000206.3(IL2RG):c.327A>G (p.Glu109=)
|
rs772713987
|
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.855-16C>T
|
rs752525322
|
0.00002
|
NM_000206.3(IL2RG):c.855-9C>T
|
rs764935731
|
0.00002
|
NM_000206.3(IL2RG):c.925-4T>C
|
rs758393948
|
0.00002
|
NM_000215.4(JAK3):c.114C>A (p.Pro38=)
|
rs1448668382
|
0.00002
|
NM_000215.4(JAK3):c.1653A>G (p.Thr551=)
|
rs201698409
|
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.2351-11C>T
|
rs200386518
|
0.00002
|
NM_000215.4(JAK3):c.2529G>A (p.Pro843=)
|
rs775003661
|
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.564C>G (p.Val188=)
|
rs199853515
|
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.411C>T (p.Ala137=)
|
rs200520638
|
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.537+12A>T
|
rs201980969
|
0.00002
|
NM_002185.5(IL7R):c.552C>T (p.Ser184=)
|
rs748733640
|
0.00002
|
NM_002185.5(IL7R):c.706+12T>G
|
rs1174138644
|
0.00002
|
NM_002185.5(IL7R):c.990G>A (p.Gln330=)
|
rs201093124
|
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.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.24A>G (p.Lys8=)
|
rs766720230
|
0.00002
|
NM_002838.5(PTPRC):c.2547T>C (p.Ile849=)
|
rs1490479102
|
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.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.57A>C (p.Thr19=)
|
rs199852332
|
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.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.774G>A (p.Pro258=)
|
rs187747730
|
0.00002
|
NM_007074.4(CORO1A):c.87C>T (p.Arg29=)
|
rs772565520
|
0.00002
|
NM_198053.3(CD247):c.414C>T (p.His138=)
|
rs184894260
|
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.270-8T>C
|
rs1373165172
|
0.00001
|
NM_000206.3(IL2RG):c.311A>T (p.His104Leu)
|
rs770804846
|
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.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.594+17G>A
|
rs1005449113
|
0.00001
|
NM_000206.3(IL2RG):c.594+7G>A
|
rs1351674205
|
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.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.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_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.1371C>T (p.Cys457=)
|
rs200197702
|
0.00001
|
NM_000215.4(JAK3):c.1458C>T (p.Ile486=)
|
rs1297346398
|
0.00001
|
NM_000215.4(JAK3):c.150T>C (p.Ala50=)
|
rs2094246845
|
0.00001
|
NM_000215.4(JAK3):c.1644C>T (p.Ala548=)
|
rs764363104
|
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.1965G>A (p.Leu655=)
|
rs199607834
|
0.00001
|
NM_000215.4(JAK3):c.2163C>T (p.Gly721=)
|
rs200715301
|
0.00001
|
NM_000215.4(JAK3):c.2199+11C>T
|
rs1380361871
|
0.00001
|
NM_000215.4(JAK3):c.2262G>A (p.Leu754=)
|
rs375857709
|
0.00001
|
NM_000215.4(JAK3):c.2463C>T (p.His821=)
|
rs200691724
|
0.00001
|
NM_000215.4(JAK3):c.2491-14C>T
|
rs202094680
|
0.00001
|
NM_000215.4(JAK3):c.2571G>T (p.Leu857=)
|
rs2050410603
|
0.00001
|
NM_000215.4(JAK3):c.2655G>A (p.Lys885=)
|
rs1479562469
|
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.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.309-20G>A
|
rs753489606
|
0.00001
|
NM_000215.4(JAK3):c.3096+8G>A
|
rs374300158
|
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.3208-9G>A
|
rs201379612
|
0.00001
|
NM_000215.4(JAK3):c.3214G>A (p.Glu1072Lys)
|
rs752088869
|
0.00001
|
NM_000215.4(JAK3):c.3276C>T (p.Gly1092=)
|
rs199611932
|
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.42T>A (p.Arg14=)
|
rs769914477
|
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.862-17C>T
|
rs966548994
|
0.00001
|
NM_000215.4(JAK3):c.93C>T (p.Pro31=)
|
rs201917022
|
0.00001
|
NM_000732.6(CD3D):c.255C>T (p.Thr85=)
|
rs200910273
|
0.00001
|
NM_000732.6(CD3D):c.309C>T (p.Thr103=)
|
rs777386322
|
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.81G>A (p.Glu27=)
|
rs144504840
|
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.353-13C>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.480G>A (p.Lys160=)
|
rs746750290
|
0.00001
|
NM_000733.4(CD3E):c.534G>A (p.Glu178=)
|
rs948241853
|
0.00001
|
NM_000733.4(CD3E):c.579A>G (p.Lys193=)
|
rs759238312
|
0.00001
|
NM_000733.4(CD3E):c.85+7A>T
|
rs371830720
|
0.00001
|
NM_002185.5(IL7R):c.1302T>G (p.Gly434=)
|
rs1464223994
|
0.00001
|
NM_002185.5(IL7R):c.1362C>T (p.Ser454=)
|
rs760766611
|
0.00001
|
NM_002185.5(IL7R):c.165G>A (p.Leu55=)
|
rs748495760
|
0.00001
|
NM_002185.5(IL7R):c.346C>T (p.Leu116=)
|
rs894868423
|
0.00001
|
NM_002185.5(IL7R):c.411C>T (p.Val137=)
|
rs545307253
|
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.573G>T (p.Leu191=)
|
rs775310578
|
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_002838.5(PTPRC):c.1033+13C>A
|
rs761456309
|
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.1470C>T (p.Asn490=)
|
rs752230174
|
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.1829+16A>G
|
rs1234637862
|
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.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.2180-9A>G
|
rs746925954
|
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.2561+11C>T
|
rs375553789
|
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.2848-4T>C
|
rs769027528
|
0.00001
|
NM_002838.5(PTPRC):c.2943C>T (p.Asp981=)
|
rs748711598
|
0.00001
|
NM_002838.5(PTPRC):c.3429C>T (p.Val1143=)
|
rs201509862
|
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.3771G>A (p.Gln1257=)
|
rs752027272
|
0.00001
|
NM_002838.5(PTPRC):c.3840T>A (p.Gly1280=)
|
rs759468863
|
0.00001
|
NM_002838.5(PTPRC):c.399T>C (p.Asn133=)
|
rs1371490627
|
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.579C>T (p.Thr193=)
|
rs1469875572
|
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.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.237C>T (p.Gly79=)
|
rs201766395
|
0.00001
|
NM_007074.4(CORO1A):c.261C>T (p.Ile87=)
|
rs763085431
|
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.480C>T (p.Asp160=)
|
rs1445453106
|
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.729T>C (p.Ser243=)
|
rs2073354742
|
0.00001
|
NM_007074.4(CORO1A):c.747G>A (p.Leu249=)
|
rs772251544
|
0.00001
|
NM_007074.4(CORO1A):c.936C>T (p.Ser312=)
|
rs148629867
|
0.00001
|
NM_198053.3(CD247):c.15G>A (p.Ala5=)
|
rs746701386
|
0.00001
|
NM_198053.3(CD247):c.219+9G>A
|
rs1444139145
|
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.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_000206.3(IL2RG):c.1008C>T (p.Pro336=)
|
rs2092253805
|
|
NM_000206.3(IL2RG):c.1035G>T (p.Gly345=)
|
|
|
NM_000206.3(IL2RG):c.1041G>T (p.Gly347=)
|
|
|
NM_000206.3(IL2RG):c.1045T>G (p.Ser349Ala)
|
|
|
NM_000206.3(IL2RG):c.1048C>T (p.Pro350Ser)
|
|
|
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.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.1098G>A (p.Lys366=)
|
rs2147745670
|
|
NM_000206.3(IL2RG):c.1107C>T (p.Thr369=)
|
|
|
NM_000206.3(IL2RG):c.115+10C>T
|
|
|
NM_000206.3(IL2RG):c.116-14T>A
|
|
|
NM_000206.3(IL2RG):c.116-8C>T
|
|
|
NM_000206.3(IL2RG):c.124C>T (p.Leu42=)
|
|
|
NM_000206.3(IL2RG):c.138C>T (p.Pro46=)
|
rs1393929587
|
|
NM_000206.3(IL2RG):c.147C>T (p.Ser49=)
|
|
|
NM_000206.3(IL2RG):c.15A>G (p.Ser5=)
|
|
|
NM_000206.3(IL2RG):c.15A>T (p.Ser5=)
|
rs2147751939
|
|
NM_000206.3(IL2RG):c.204G>A (p.Glu68=)
|
|
|
NM_000206.3(IL2RG):c.207C>T (p.Tyr69=)
|
|
|
NM_000206.3(IL2RG):c.216C>T (p.Cys72=)
|
|
|
NM_000206.3(IL2RG):c.219T>A (p.Thr73=)
|
|
|
NM_000206.3(IL2RG):c.231C>T (p.Ser77=)
|
rs1556330951
|
|
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.267T>C (p.Tyr89=)
|
rs2147750855
|
|
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.270-11T>C
|
|
|
NM_000206.3(IL2RG):c.270-15A>T
|
rs886039387
|
|
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.279C>T (p.Asn93=)
|
|
|
NM_000206.3(IL2RG):c.30C>T (p.Ser10=)
|
|
|
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.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.363G>A (p.Glu121=)
|
|
|
NM_000206.3(IL2RG):c.369C>T (p.His123=)
|
rs2092261325
|
|
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.405A>C (p.Pro135=)
|
|
|
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.471A>C (p.Pro157=)
|
|
|
NM_000206.3(IL2RG):c.504C>G (p.Ser168=)
|
|
|
NM_000206.3(IL2RG):c.555C>T (p.His185=)
|
|
|
NM_000206.3(IL2RG):c.564G>A (p.Gln188=)
|
|
|
NM_000206.3(IL2RG):c.576C>T (p.Asp192=)
|
rs1378747798
|
|
NM_000206.3(IL2RG):c.594+10T>G
|
|
|
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.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.672G>A (p.Arg224=)
|
|
|
NM_000206.3(IL2RG):c.678C>T (p.Arg226=)
|
rs2147748213
|
|
NM_000206.3(IL2RG):c.687A>G (p.Pro229=)
|
|
|
NM_000206.3(IL2RG):c.726C>T (p.His242=)
|
|
|
NM_000206.3(IL2RG):c.72C>T (p.Asn24=)
|
|
|
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.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.804C>T (p.Gly268=)
|
rs2147747411
|
|
NM_000206.3(IL2RG):c.814T>C (p.Leu272=)
|
rs2092256405
|
|
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.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.855-20C>T
|
|
|
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.924+10C>G
|
rs2147746639
|
|
NM_000206.3(IL2RG):c.924+10C>T
|
|
|
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.925-8G>A
|
|
|
NM_000206.3(IL2RG):c.925-8G>C
|
rs1216156279
|
|
NM_000206.3(IL2RG):c.969A>T (p.Pro323=)
|
|
|
NM_000206.3(IL2RG):c.982C>A (p.Arg328=)
|
rs1064793347
|
|
NM_000206.3(IL2RG):c.993C>T (p.Leu331=)
|
rs2147745985
|
|
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.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.1068G>A (p.Gln356=)
|
|
|
NM_000215.4(JAK3):c.1086G>A (p.Glu362=)
|
|
|
NM_000215.4(JAK3):c.1098G>T (p.Pro366=)
|
|
|
NM_000215.4(JAK3):c.1134C>T (p.Gly378=)
|
|
|
NM_000215.4(JAK3):c.1142+10T>C
|
|
|
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.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.1176G>T (p.Gly392=)
|
|
|
NM_000215.4(JAK3):c.1185T>C (p.Arg395=)
|
|
|
NM_000215.4(JAK3):c.1191C>G (p.Gly397=)
|
|
|
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.1254+12G>A
|
|
|
NM_000215.4(JAK3):c.1254+18G>T
|
|
|
NM_000215.4(JAK3):c.1255-12T>C
|
|
|
NM_000215.4(JAK3):c.1255-15C>T
|
|
|
NM_000215.4(JAK3):c.1255-19G>C
|
|
|
NM_000215.4(JAK3):c.1266T>A (p.Gly422=)
|
rs754562580
|
|
NM_000215.4(JAK3):c.1275T>C (p.Tyr425=)
|
|
|
NM_000215.4(JAK3):c.1287C>T (p.Leu429=)
|
|
|
NM_000215.4(JAK3):c.1299C>T (p.Ser433=)
|
|
|
NM_000215.4(JAK3):c.129C>T (p.Phe43=)
|
|
|
NM_000215.4(JAK3):c.1305A>G (p.Thr435=)
|
|
|
NM_000215.4(JAK3):c.1311C>A (p.Thr437=)
|
|
|
NM_000215.4(JAK3):c.1320G>A (p.Leu440=)
|
|
|
NM_000215.4(JAK3):c.1341C>T (p.His447=)
|
rs2147691249
|
|
NM_000215.4(JAK3):c.1356G>A (p.Glu452=)
|
|
|
NM_000215.4(JAK3):c.1383G>T (p.Gly461=)
|
|
|
NM_000215.4(JAK3):c.1389C>T (p.His463=)
|
rs201132330
|
|
NM_000215.4(JAK3):c.1401G>A (p.Val467=)
|
|
|
NM_000215.4(JAK3):c.1407G>A (p.Val469=)
|
|
|
NM_000215.4(JAK3):c.1413C>T (p.Leu471=)
|
|
|
NM_000215.4(JAK3):c.1425T>C (p.Cys475=)
|
|
|
NM_000215.4(JAK3):c.1428C>T (p.Ile476=)
|
|
|
NM_000215.4(JAK3):c.1441+15C>T
|
|
|
NM_000215.4(JAK3):c.1441+16C>T
|
|
|
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.1473T>C (p.Gly491=)
|
|
|
NM_000215.4(JAK3):c.1485C>T (p.Pro495=)
|
|
|
NM_000215.4(JAK3):c.1495T>C (p.Leu499=)
|
|
|
NM_000215.4(JAK3):c.1509A>G (p.Gln503=)
|
|
|
NM_000215.4(JAK3):c.1518C>T (p.Tyr506=)
|
|
|
NM_000215.4(JAK3):c.1545G>A (p.Lys515=)
|
|
|
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.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.162C>T (p.Cys54=)
|
|
|
NM_000215.4(JAK3):c.1635T>C (p.Asp545=)
|
|
|
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.1677T>C (p.Asp559=)
|
|
|
NM_000215.4(JAK3):c.1683G>A (p.Lys561=)
|
rs2094228255
|
|
NM_000215.4(JAK3):c.1686C>T (p.His562=)
|
|
|
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+7G>A
|
|
|
NM_000215.4(JAK3):c.1702-15T>C
|
|
|
NM_000215.4(JAK3):c.1702-16T>C
|
|
|
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.1740G>T (p.Ser580=)
|
|
|
NM_000215.4(JAK3):c.1746G>A (p.Arg582=)
|
|
|
NM_000215.4(JAK3):c.1755G>T (p.Val585=)
|
|
|
NM_000215.4(JAK3):c.1786+13C>T
|
rs781208496
|
|
NM_000215.4(JAK3):c.1786+15C>T
|
|
|
NM_000215.4(JAK3):c.1786+20C>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.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.1837C>A (p.Arg613=)
|
|
|
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+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.1881G>A (p.Val627=)
|
|
|
NM_000215.4(JAK3):c.1896C>G (p.Ala632=)
|
|
|
NM_000215.4(JAK3):c.18A>G (p.Glu6=)
|
|
|
NM_000215.4(JAK3):c.1914+13C>G
|
|
|
NM_000215.4(JAK3):c.1914+17C>T
|
rs2147684071
|
|
NM_000215.4(JAK3):c.1915-10G>A
|
|
|
NM_000215.4(JAK3):c.1915-17G>C
|
|
|
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.1953G>C (p.Arg651=)
|
|
|
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.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.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.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>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.213T>C (p.Phe71=)
|
|
|
NM_000215.4(JAK3):c.2157T>C (p.Phe719=)
|
|
|
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+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.2259C>G (p.Ala753=)
|
|
|
NM_000215.4(JAK3):c.225G>T (p.Thr75=)
|
|
|
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.231C>T (p.Asp77=)
|
rs771323120
|
|
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.2351-15A>G
|
|
|
NM_000215.4(JAK3):c.2351-18C>T
|
|
|
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.2364C>T (p.Leu788=)
|
|
|
NM_000215.4(JAK3):c.237C>A (p.Ser79=)
|
|
|
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.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.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.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.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.2547T>G (p.Gly849=)
|
|
|
NM_000215.4(JAK3):c.2550C>A (p.Ala850=)
|
|
|
NM_000215.4(JAK3):c.2553G>C (p.Leu851=)
|
|
|
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.2596A>C (p.Arg866=)
|
|
|
NM_000215.4(JAK3):c.2613G>A (p.Glu871=)
|
|
|
NM_000215.4(JAK3):c.2634G>A (p.Leu878=)
|
|
|
NM_000215.4(JAK3):c.2637C>T (p.His879=)
|
|
|
NM_000215.4(JAK3):c.2664T>G (p.Gly888=)
|
rs2147678142
|
|
NM_000215.4(JAK3):c.2667C>G (p.Val889=)
|
|
|
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+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.2694G>A (p.Leu898=)
|
|
|
NM_000215.4(JAK3):c.2697G>T (p.Arg899=)
|
|
|
NM_000215.4(JAK3):c.2709G>A (p.Glu903=)
|
|
|
NM_000215.4(JAK3):c.2721C>T (p.Ser907=)
|
|
|
NM_000215.4(JAK3):c.2733C>A (p.Arg911=)
|
|
|
NM_000215.4(JAK3):c.2748G>A (p.Arg916=)
|
|
|
NM_000215.4(JAK3):c.2751C>T (p.His917=)
|
|
|
NM_000215.4(JAK3):c.2755G>C (p.Ala919Pro)
|
|
|
NM_000215.4(JAK3):c.2757G>A (p.Ala919=)
|
|
|
NM_000215.4(JAK3):c.2763C>T (p.Leu921=)
|
|
|
NM_000215.4(JAK3):c.2769C>T (p.Ala923=)
|
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000215.4(JAK3):c.2784C>G (p.Leu928=)
|
|
|
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.2806-4G>A
|
|
|
NM_000215.4(JAK3):c.2806-5C>T
|
|
|
NM_000215.4(JAK3):c.2806-8G>T
|
|
|
NM_000215.4(JAK3):c.2818C>T (p.Leu940=)
|
|
|
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.2850G>T (p.Leu950=)
|
rs2094214171
|
|
NM_000215.4(JAK3):c.2865C>T (p.Ile955=)
|
|
|
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.2943C>T (p.Tyr981=)
|
|
|
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.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.297G>A (p.Leu99=)
|
rs3212716
|
|
NM_000215.4(JAK3):c.2982T>C (p.Tyr994=)
|
|
|
NM_000215.4(JAK3):c.2988C>G (p.Pro996=)
|
|
|
NM_000215.4(JAK3):c.3012C>T (p.Phe1004=)
|
|
|
NM_000215.4(JAK3):c.3027C>T (p.Asp1009=)
|
|
|
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.308+11C>T
|
|
|
NM_000215.4(JAK3):c.308+18G>A
|
|
|
NM_000215.4(JAK3):c.308+19C>T
|
|
|
NM_000215.4(JAK3):c.308+8G>C
|
|
|
NM_000215.4(JAK3):c.3084C>T (p.Cys1028=)
|
rs200096249
|
|
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.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.3108G>A (p.Arg1036=)
|
|
|
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.3151T>C (p.Leu1051=)
|
|
|
NM_000215.4(JAK3):c.3159G>T (p.Leu1053=)
|
|
|
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.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.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.3270C>A (p.Ala1090=)
|
|
|
NM_000215.4(JAK3):c.3270C>T (p.Ala1090=)
|
|
|
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.3312G>A (p.Gly1104=)
|
|
|
NM_000215.4(JAK3):c.3312G>T (p.Gly1104=)
|
|
|
NM_000215.4(JAK3):c.3360C>G (p.Ser1120=)
|
rs1217168188
|
|
NM_000215.4(JAK3):c.342G>A (p.Lys114=)
|
|
|
NM_000215.4(JAK3):c.357G>T (p.Gly119=)
|
|
|
NM_000215.4(JAK3):c.363C>T (p.Arg121=)
|
|
|
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.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.432C>T (p.Asp144=)
|
|
|
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.501G>T (p.Val167=)
|
rs1599880049
|
|
NM_000215.4(JAK3):c.502T>C (p.Leu168=)
|
rs1599880046
|
|
NM_000215.4(JAK3):c.516G>A (p.Arg172=)
|
rs1599880017
|
|
NM_000215.4(JAK3):c.522G>C (p.Ala174=)
|
|
|
NM_000215.4(JAK3):c.528G>A (p.Glu176=)
|
|
|
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.540G>T (p.Arg180=)
|
|
|
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.567-15C>T
|
|
|
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.594G>T (p.Leu198=)
|
|
|
NM_000215.4(JAK3):c.606C>A (p.Ile202=)
|
|
|
NM_000215.4(JAK3):c.60C>T (p.Ser20=)
|
|
|
NM_000215.4(JAK3):c.621C>T (p.Phe207=)
|
|
|
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.660C>T (p.Ala220=)
|
|
|
NM_000215.4(JAK3):c.666C>T (p.Arg222=)
|
|
|
NM_000215.4(JAK3):c.669C>T (p.Arg223=)
|
|
|
NM_000215.4(JAK3):c.678C>G (p.Ala226=)
|
rs2147697716
|
|
NM_000215.4(JAK3):c.708C>T (p.Ala236=)
|
|
|
NM_000215.4(JAK3):c.717C>A (p.Ile239=)
|
|
|
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.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.76C>T (p.Leu26=)
|
|
|
NM_000215.4(JAK3):c.774C>T (p.Leu258=)
|
|
|
NM_000215.4(JAK3):c.783C>T (p.Ala261=)
|
|
|
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.813C>T (p.Leu271=)
|
|
|
NM_000215.4(JAK3):c.822T>C (p.Ala274=)
|
|
|
NM_000215.4(JAK3):c.822T>G (p.Ala274=)
|
|
|
NM_000215.4(JAK3):c.828C>T (p.Asp276=)
|
|
|
NM_000215.4(JAK3):c.831C>T (p.Gly277=)
|
|
|
NM_000215.4(JAK3):c.846C>A (p.Thr282=)
|
|
|
NM_000215.4(JAK3):c.852A>G (p.Gly284=)
|
|
|
NM_000215.4(JAK3):c.858G>A (p.Gln286=)
|
|
|
NM_000215.4(JAK3):c.861+18C>T
|
|
|
NM_000215.4(JAK3):c.861+19G>C
|
|
|
NM_000215.4(JAK3):c.861+9G>T
|
rs779139433
|
|
NM_000215.4(JAK3):c.862-11C>A
|
rs752415312
|
|
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.862-5C>A
|
rs2147695701
|
|
NM_000215.4(JAK3):c.862-8C>T
|
|
|
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.900C>T (p.Asp300=)
|
|
|
NM_000215.4(JAK3):c.906C>T (p.Ser302=)
|
|
|
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.933G>C (p.Pro311=)
|
|
|
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu)
|
rs200319694
|
|
NM_000215.4(JAK3):c.939A>G (p.Gly313=)
|
|
|
NM_000215.4(JAK3):c.949C>T (p.Leu317=)
|
|
|
NM_000215.4(JAK3):c.960T>C (p.Val320=)
|
|
|
NM_000215.4(JAK3):c.963C>A (p.Thr321=)
|
|
|
NM_000215.4(JAK3):c.975C>T (p.Asn325=)
|
|
|
NM_000215.4(JAK3):c.97C>A (p.Arg33=)
|
|
|
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.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.162C>T (p.Asp54=)
|
|
|
NM_000732.6(CD3D):c.172C>T (p.Leu58=)
|
rs2134059883
|
|
NM_000732.6(CD3D):c.189C>T (p.Arg63=)
|
rs1948289777
|
|
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.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.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.27C>T (p.Gly9=)
|
|
|
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.346C>T (p.Leu116=)
|
|
|
NM_000732.6(CD3D):c.351C>T (p.Leu117=)
|
|
|
NM_000732.6(CD3D):c.378T>C (p.Ala126=)
|
rs1237318986
|
|
NM_000732.6(CD3D):c.381A>C (p.Gly127=)
|
|
|
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.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+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.407-7C>T
|
|
|
NM_000732.6(CD3D):c.411C>A (p.Ala137=)
|
|
|
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.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.486C>T (p.His162=)
|
|
|
NM_000732.6(CD3D):c.48C>T (p.Leu16=)
|
|
|
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.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.84A>G (p.Glu28=)
|
|
|
NM_000733.4(CD3E):c.103+14T>A
|
|
|
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.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.189T>C (p.Asp63=)
|
|
|
NM_000733.4(CD3E):c.201C>T (p.Gly67=)
|
|
|
NM_000733.4(CD3E):c.210G>A (p.Glu70=)
|
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
NM_000733.4(CD3E):c.234T>C (p.Asp78=)
|
|
|
NM_000733.4(CD3E):c.258A>G (p.Glu86=)
|
|
|
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>C (p.Tyr96=)
|
|
|
NM_000733.4(CD3E):c.30G>A (p.Leu10=)
|
|
|
NM_000733.4(CD3E):c.30G>T (p.Leu10=)
|
|
|
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.353-4A>G
|
|
|
NM_000733.4(CD3E):c.353-4dup
|
|
|
NM_000733.4(CD3E):c.353-5C>A
|
rs374456909
|
|
NM_000733.4(CD3E):c.353-5C>T
|
rs374456909
|
|
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.39C>T (p.Cys13=)
|
|
|
NM_000733.4(CD3E):c.417C>T (p.Cys139=)
|
|
|
NM_000733.4(CD3E):c.420C>T (p.Ile140=)
|
|
|
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.468G>A (p.Lys156=)
|
|
|
NM_000733.4(CD3E):c.49+14A>G
|
|
|
NM_000733.4(CD3E):c.49+8G>A
|
|
|
NM_000733.4(CD3E):c.490C>A (p.Arg164=)
|
|
|
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.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+20T>C
|
|
|
NM_000733.4(CD3E):c.521-10T>A
|
|
|
NM_000733.4(CD3E):c.521-13C>T
|
|
|
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.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.568-17_568-14del
|
|
|
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.585G>A (p.Gln195=)
|
|
|
NM_000733.4(CD3E):c.586C>A (p.Arg196=)
|
|
|
NM_000733.4(CD3E):c.592C>T (p.Leu198=)
|
|
|
NM_000733.4(CD3E):c.603C>T (p.Gly201=)
|
rs2134769949
|
|
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.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.86-15T>C
|
|
|
NM_000733.4(CD3E):c.86-7T>C
|
|
|
NM_000733.4(CD3E):c.86-8A>G
|
|
|
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.1029T>C (p.Asp343=)
|
rs2149905510
|
|
NM_002185.5(IL7R):c.102A>G (p.Glu34=)
|
|
|
NM_002185.5(IL7R):c.1050A>G (p.Pro350=)
|
|
|
NM_002185.5(IL7R):c.1056G>A (p.Glu352=)
|
rs1760204486
|
|
NM_002185.5(IL7R):c.1065_1066inv (p.Ile356Val)
|
|
|
NM_002185.5(IL7R):c.10C>T (p.Leu4=)
|
|
|
NM_002185.5(IL7R):c.1107C>T (p.Cys369=)
|
|
|
NM_002185.5(IL7R):c.1108C>T (p.Leu370=)
|
rs1760207150
|
|
NM_002185.5(IL7R):c.1125T>C (p.Ser375=)
|
rs1580864691
|
|
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.1176G>A (p.Glu392=)
|
|
|
NM_002185.5(IL7R):c.117A>T (p.Ser39=)
|
|
|
NM_002185.5(IL7R):c.1191G>C (p.Gly397=)
|
|
|
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.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.1248C>A (p.Pro416=)
|
|
|
NM_002185.5(IL7R):c.1263C>G (p.Leu421=)
|
|
|
NM_002185.5(IL7R):c.1272A>G (p.Gly424=)
|
|
|
NM_002185.5(IL7R):c.1281A>G (p.Thr427=)
|
|
|
NM_002185.5(IL7R):c.129T>C (p.Tyr43=)
|
|
|
NM_002185.5(IL7R):c.1308C>T (p.Pro436=)
|
|
|
NM_002185.5(IL7R):c.1335A>G (p.Gln445=)
|
|
|
NM_002185.5(IL7R):c.1368C>T (p.Tyr456=)
|
|
|
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.183C>T (p.Asp61=)
|
|
|
NM_002185.5(IL7R):c.197_198delinsCT (p.Ile66Thr)
|
rs2149895738
|
|
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.228C>T (p.Ala76=)
|
rs2149899076
|
|
NM_002185.5(IL7R):c.231C>T (p.Leu77=)
|
|
|
NM_002185.5(IL7R):c.243G>A (p.Lys81=)
|
|
|
NM_002185.5(IL7R):c.246C>T (p.Cys82=)
|
|
|
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.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.315C>T (p.Ser105=)
|
|
|
NM_002185.5(IL7R):c.318T>C (p.Asn106=)
|
|
|
NM_002185.5(IL7R):c.336A>G (p.Gly112=)
|
|
|
NM_002185.5(IL7R):c.363A>C (p.Ile121=)
|
|
|
NM_002185.5(IL7R):c.369A>C (p.Leu123=)
|
|
|
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.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.402C>T (p.Asp134=)
|
|
|
NM_002185.5(IL7R):c.405G>A (p.Leu135=)
|
|
|
NM_002185.5(IL7R):c.432T>C (p.Asn144=)
|
|
|
NM_002185.5(IL7R):c.441G>A (p.Val147=)
|
|
|
NM_002185.5(IL7R):c.456A>T (p.Thr152=)
|
|
|
NM_002185.5(IL7R):c.501A>T (p.Val167=)
|
|
|
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.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+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.538-4C>G
|
|
|
NM_002185.5(IL7R):c.552C>G (p.Ser184=)
|
|
|
NM_002185.5(IL7R):c.562C>T (p.Leu188=)
|
|
|
NM_002185.5(IL7R):c.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.591G>A (p.Pro197=)
|
|
|
NM_002185.5(IL7R):c.618A>G (p.Arg206=)
|
rs755300062
|
|
NM_002185.5(IL7R):c.633C>T (p.His211=)
|
|
|
NM_002185.5(IL7R):c.657A>G (p.Glu219=)
|
|
|
NM_002185.5(IL7R):c.66T>C (p.Ser22=)
|
|
|
NM_002185.5(IL7R):c.699T>C (p.Asn233=)
|
|
|
NM_002185.5(IL7R):c.706+18A>G
|
|
|
NM_002185.5(IL7R):c.706+19G>C
|
|
|
NM_002185.5(IL7R):c.706+9T>C
|
|
|
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.717T>C (p.Asp239=)
|
|
|
NM_002185.5(IL7R):c.732C>T (p.Thr244=)
|
|
|
NM_002185.5(IL7R):c.735C>T (p.Ile245=)
|
|
|
NM_002185.5(IL7R):c.762T>A (p.Ala254=)
|
|
|
NM_002185.5(IL7R):c.780C>A (p.Ala260=)
|
|
|
NM_002185.5(IL7R):c.798A>G (p.Lys266=)
|
|
|
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.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.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+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.83-6C>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.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+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.877-6G>A
|
|
|
NM_002185.5(IL7R):c.87C>T (p.Asp29=)
|
|
|
NM_002185.5(IL7R):c.885T>C (p.Asn295=)
|
|
|
NM_002185.5(IL7R):c.912G>C (p.Leu304=)
|
|
|
NM_002185.5(IL7R):c.933G>A (p.Val311=)
|
rs1760197729
|
|
NM_002185.5(IL7R):c.936T>C (p.Asp312=)
|
|
|
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.981G>A (p.Thr327=)
|
rs200211847
|
|
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.101-12A>C
|
|
|
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.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.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.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.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.123C>G (p.Pro41=)
|
|
|
NM_002838.5(PTPRC):c.123C>T (p.Pro41=)
|
|
|
NM_002838.5(PTPRC):c.1245T>C (p.Pro415=)
|
|
|
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.1292-5C>T
|
|
|
NM_002838.5(PTPRC):c.1293A>G (p.Glu431=)
|
|
|
NM_002838.5(PTPRC):c.1320C>T (p.Asn440=)
|
rs1653604546
|
|
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.1404A>G (p.Gln468=)
|
|
|
NM_002838.5(PTPRC):c.1407T>C (p.Arg469=)
|
|
|
NM_002838.5(PTPRC):c.1416T>C (p.Ser472=)
|
|
|
NM_002838.5(PTPRC):c.141T>C (p.Ser47=)
|
|
|
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.1479C>G (p.Val493=)
|
|
|
NM_002838.5(PTPRC):c.1497T>C (p.Asn499=)
|
|
|
NM_002838.5(PTPRC):c.1506T>C (p.His502=)
|
|
|
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.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.1584G>T (p.Leu528=)
|
|
|
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.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.1659+11G>A
|
|
|
NM_002838.5(PTPRC):c.1659+20A>G
|
|
|
NM_002838.5(PTPRC):c.1659+9A>G
|
|
|
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.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>T (p.Pro59=)
|
rs17612648
|
|
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.1830-6T>C
|
|
|
NM_002838.5(PTPRC):c.1833T>C (p.Asn611=)
|
|
|
NM_002838.5(PTPRC):c.1839T>C (p.Asp613=)
|
|
|
NM_002838.5(PTPRC):c.1864+11A>G
|
|
|
NM_002838.5(PTPRC):c.1864+11A>T
|
|
|
NM_002838.5(PTPRC):c.1864+19G>A
|
|
|
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.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.1938T>C (p.Ile646=)
|
rs749949538
|
|
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.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.2022G>A (p.Lys674=)
|
|
|
NM_002838.5(PTPRC):c.2031C>T (p.Asn677=)
|
|
|
NM_002838.5(PTPRC):c.2049T>C (p.Tyr683=)
|
|
|
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.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.2193A>G (p.Glu731=)
|
|
|
NM_002838.5(PTPRC):c.2205T>C (p.Asp735=)
|
|
|
NM_002838.5(PTPRC):c.2235C>T (p.Ala745=)
|
|
|
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.2278-9A>T
|
|
|
NM_002838.5(PTPRC):c.2289A>G (p.Ala763=)
|
|
|
NM_002838.5(PTPRC):c.2301G>A (p.Pro767=)
|
|
|
NM_002838.5(PTPRC):c.2331A>G (p.Gly777=)
|
rs1199533494
|
|
NM_002838.5(PTPRC):c.2352C>T (p.Asn784=)
|
|
|
NM_002838.5(PTPRC):c.2358C>T (p.His786=)
|
|
|
NM_002838.5(PTPRC):c.2370A>C (p.Pro790=)
|
|
|
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.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.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.2472G>A (p.Val824=)
|
|
|
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.2496C>G (p.Leu832=)
|
|
|
NM_002838.5(PTPRC):c.249C>T (p.Thr83=)
|
|
|
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.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.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.2616C>A (p.Gly872=)
|
|
|
NM_002838.5(PTPRC):c.2619G>T (p.Leu873=)
|
|
|
NM_002838.5(PTPRC):c.2625C>A (p.Ala875=)
|
|
|
NM_002838.5(PTPRC):c.2637G>A (p.Val879=)
|
|
|
NM_002838.5(PTPRC):c.2637G>C (p.Val879=)
|
|
|
NM_002838.5(PTPRC):c.2643T>C (p.Val881=)
|
|
|
NM_002838.5(PTPRC):c.2664A>G (p.Leu888=)
|
|
|
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+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.2736C>T (p.Tyr912=)
|
|
|
NM_002838.5(PTPRC):c.2748A>G (p.Gly916=)
|
|
|
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.279T>C (p.Ala93=)
|
rs2102385190
|
|
NM_002838.5(PTPRC):c.2832A>G (p.Leu944=)
|
rs2102522555
|
|
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.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.2848-8_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.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+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.2946T>C (p.Tyr982=)
|
|
|
NM_002838.5(PTPRC):c.294C>G (p.Thr98=)
|
|
|
NM_002838.5(PTPRC):c.298+12A>G
|
|
|
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.3018T>C (p.Asp1006=)
|
|
|
NM_002838.5(PTPRC):c.3024C>T (p.Asp1008=)
|
|
|
NM_002838.5(PTPRC):c.3039A>G (p.Glu1013=)
|
|
|
NM_002838.5(PTPRC):c.303T>G (p.Val101=)
|
|
|
NM_002838.5(PTPRC):c.3051C>T (p.Tyr1017=)
|
rs2102538418
|
|
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.3073-14T>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.3115C>T (p.Leu1039=)
|
|
|
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.318G>T (p.Thr106=)
|
|
|
NM_002838.5(PTPRC):c.3190C>T (p.Leu1064=)
|
|
|
NM_002838.5(PTPRC):c.3192G>A (p.Leu1064=)
|
|
|
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+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.3208-4C>G
|
rs2102546800
|
|
NM_002838.5(PTPRC):c.3208-7T>C
|
|
|
NM_002838.5(PTPRC):c.3219T>C (p.Ala1073=)
|
|
|
NM_002838.5(PTPRC):c.3222G>A (p.Gln1074=)
|
rs190241405
|
|
NM_002838.5(PTPRC):c.3249T>C (p.Tyr1083=)
|
|
|
NM_002838.5(PTPRC):c.3252A>G (p.Gly1084=)
|
|
|
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.3288T>C (p.Ser1096=)
|
|
|
NM_002838.5(PTPRC):c.3309C>A (p.Val1103=)
|
|
|
NM_002838.5(PTPRC):c.3309C>T (p.Val1103=)
|
|
|
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+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.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.3399A>G (p.Glu1133=)
|
rs1571896551
|
|
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.342C>T (p.Asp114=)
|
|
|
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.3537T>C (p.Phe1179=)
|
rs191520732
|
|
NM_002838.5(PTPRC):c.3544T>C (p.Leu1182=)
|
|
|
NM_002838.5(PTPRC):c.354C>G (p.Pro118=)
|
|
|
NM_002838.5(PTPRC):c.3564T>C (p.Ser1188=)
|
|
|
NM_002838.5(PTPRC):c.3603A>G (p.Val1201=)
|
|
|
NM_002838.5(PTPRC):c.3630C>A (p.Gly1210=)
|
|
|
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+9C>A
|
|
|
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.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.3726A>G (p.Gln1242=)
|
|
|
NM_002838.5(PTPRC):c.3750T>C (p.Asn1250=)
|
|
|
NM_002838.5(PTPRC):c.3753A>G (p.Glu1251=)
|
|
|
NM_002838.5(PTPRC):c.3759C>T (p.Asp1253=)
|
|
|
NM_002838.5(PTPRC):c.3777T>C (p.Ala1259=)
|
rs2102560154
|
|
NM_002838.5(PTPRC):c.3783T>C (p.Cys1261=)
|
|
|
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.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.3852G>A (p.Thr1284=)
|
|
|
NM_002838.5(PTPRC):c.3852G>T (p.Thr1284=)
|
|
|
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.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.393C>A (p.Ala131=)
|
|
|
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.519A>T (p.Ala173=)
|
|
|
NM_002838.5(PTPRC):c.522C>T (p.His174=)
|
|
|
NM_002838.5(PTPRC):c.528C>T (p.Ser176=)
|
|
|
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.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+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.597T>C (p.Asn199=)
|
|
|
NM_002838.5(PTPRC):c.600C>G (p.Ala200=)
|
|
|
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.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.659-18T>A
|
|
|
NM_002838.5(PTPRC):c.659-18T>G
|
|
|
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.686-6T>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.711G>A (p.Val237=)
|
|
|
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+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.789T>C (p.Asn263=)
|
|
|
NM_002838.5(PTPRC):c.816C>T (p.Asn272=)
|
|
|
NM_002838.5(PTPRC):c.825A>G (p.Glu275=)
|
|
|
NM_002838.5(PTPRC):c.834T>C (p.Asn278=)
|
|
|
NM_002838.5(PTPRC):c.855T>C (p.His285=)
|
|
|
NM_002838.5(PTPRC):c.861A>G (p.Ser287=)
|
|
|
NM_002838.5(PTPRC):c.873T>A (p.Pro291=)
|
|
|
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.906G>C (p.Gly302=)
|
|
|
NM_002838.5(PTPRC):c.909T>C (p.Val303=)
|
|
|
NM_002838.5(PTPRC):c.933T>C (p.Cys311=)
|
rs766607810
|
|
NM_002838.5(PTPRC):c.993T>C (p.Phe331=)
|
|
|
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+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.1065+13C>T
|
|
|
NM_007074.4(CORO1A):c.1065+15C>T
|
|
|
NM_007074.4(CORO1A):c.1066-13G>A
|
|
|
NM_007074.4(CORO1A):c.1068G>C (p.Ser356=)
|
|
|
NM_007074.4(CORO1A):c.1089G>A (p.Leu363=)
|
|
|
NM_007074.4(CORO1A):c.1098C>T (p.Pro366=)
|
|
|
NM_007074.4(CORO1A):c.1122C>A (p.Leu374=)
|
|
|
NM_007074.4(CORO1A):c.1134G>A (p.Glu378=)
|
|
|
NM_007074.4(CORO1A):c.1161C>G (p.Pro387=)
|
rs375181897
|
|
NM_007074.4(CORO1A):c.1188C>T (p.Tyr396=)
|
rs151106018
|
|
NM_007074.4(CORO1A):c.1204C>A (p.Arg402=)
|
rs150186033
|
|
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.1251A>G (p.Ala417=)
|
|
|
NM_007074.4(CORO1A):c.1269C>T (p.Gly423=)
|
|
|
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.198+13G>C
|
|
|
NM_007074.4(CORO1A):c.198+20G>C
|
|
|
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.228G>A (p.Thr76=)
|
rs781250172
|
|
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.273G>T (p.Pro91=)
|
rs141844867
|
|
NM_007074.4(CORO1A):c.303C>T (p.Ser101=)
|
|
|
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.352C>T (p.Leu118=)
|
|
|
NM_007074.4(CORO1A):c.42G>C (p.Val14=)
|
rs754614186
|
|
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.534G>A (p.Thr178=)
|
|
|
NM_007074.4(CORO1A):c.546G>A (p.Val182=)
|
rs2151062652
|
|
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.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+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.672G>C (p.Val224=)
|
|
|
NM_007074.4(CORO1A):c.684C>T (p.Phe228=)
|
|
|
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.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.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.768G>A (p.Glu256=)
|
rs2151063049
|
|
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.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.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.969C>A (p.Pro323=)
|
rs1555490997
|
|
NM_198053.3(CD247):c.151C>T (p.Leu51=)
|
|
|
NM_198053.3(CD247):c.15G>T (p.Ala5=)
|
|
|
NM_198053.3(CD247):c.162+15G>A
|
|
|
NM_198053.3(CD247):c.162+15G>T
|
|
|
NM_198053.3(CD247):c.162+7A>G
|
|
|
NM_198053.3(CD247):c.163-13T>C
|
|
|
NM_198053.3(CD247):c.219+10C>T
|
|
|
NM_198053.3(CD247):c.219+13C>G
|
rs2101994086
|
|
NM_198053.3(CD247):c.219+13C>T
|
rs2101994086
|
|
NM_198053.3(CD247):c.219+16C>G
|
rs12141641
|
|
NM_198053.3(CD247):c.222G>A (p.Glu74=)
|
|
|
NM_198053.3(CD247):c.24C>T (p.Thr8=)
|
|
|
NM_198053.3(CD247):c.291G>A (p.Gly97=)
|
|
|
NM_198053.3(CD247):c.294A>G (p.Gly98=)
|
rs1453205554
|
|
NM_198053.3(CD247):c.300+11C>T
|
|
|
NM_198053.3(CD247):c.300+13C>G
|
|
|
NM_198053.3(CD247):c.301-20C>T
|
|
|
NM_198053.3(CD247):c.309G>A (p.Arg103=)
|
|
|
NM_198053.3(CD247):c.328C>T (p.Leu110=)
|
|
|
NM_198053.3(CD247):c.337-11C>A
|
|
|
NM_198053.3(CD247):c.337-18C>G
|
|
|
NM_198053.3(CD247):c.337-4G>T
|
|
|
NM_198053.3(CD247):c.337-5T>C
|
|
|
NM_198053.3(CD247):c.345G>A (p.Gln115=)
|
rs2101986584
|
|
NM_198053.3(CD247):c.348A>G (p.Lys116=)
|
|
|
NM_198053.3(CD247):c.381G>T (p.Gly127=)
|
|
|
NM_198053.3(CD247):c.394-19T>C
|
|
|
NM_198053.3(CD247):c.394-6_394-4del
|
|
|
NM_198053.3(CD247):c.394-8_394-5del
|
rs769263658
|
|
NM_198053.3(CD247):c.417T>C (p.Asp139=)
|
|
|
NM_198053.3(CD247):c.429+13G>A
|
|
|
NM_198053.3(CD247):c.429+15C>T
|
|
|
NM_198053.3(CD247):c.430-12C>G
|
|
|
NM_198053.3(CD247):c.447C>T (p.Thr149=)
|
|
|
NM_198053.3(CD247):c.51G>A (p.Pro17=)
|
|
|
NM_198053.3(CD247):c.58+11C>T
|
rs375286157
|
|
NM_198053.3(CD247):c.58+20G>C
|
|
|
NM_198053.3(CD247):c.59-6G>T
|
|
|
NM_198053.3(CD247):c.6G>A (p.Lys2=)
|
|
|
NM_198053.3(CD247):c.76C>T (p.Leu26=)
|
rs1651787952
|
|