NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=)
|
rs7076862
|
0.42876
|
NM_000215.4(JAK3):c.3096+18A>G
|
rs2302603
|
0.36048
|
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)
|
rs35441642
|
0.09351
|
NM_000022.4(ADA):c.390G>A (p.Val130=)
|
rs61737144
|
0.04145
|
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)
|
rs4151030
|
0.02153
|
NM_000448.3(RAG1):c.189A>G (p.Pro63=)
|
rs34357808
|
0.01436
|
NM_000215.4(JAK3):c.2259C>T (p.Ala753=)
|
rs35458530
|
0.01034
|
NM_000215.4(JAK3):c.2625C>T (p.Leu875=)
|
rs2230589
|
0.00942
|
NM_000733.4(CD3E):c.507C>T (p.Gly169=)
|
rs2231447
|
0.00816
|
NM_000733.4(CD3E):c.498G>A (p.Ala166=)
|
rs78373007
|
0.00262
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
|
rs55729925
|
0.00021
|
NM_000732.6(CD3D):c.450+6C>T
|
rs193922617
|
0.00013
|
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)
|
rs370444838
|
0.00011
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)
|
rs193922462
|
0.00007
|
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000270.4(PNP):c.701G>C (p.Arg234Pro)
|
rs104894451
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)
|
rs772962160
|
0.00005
|
NM_002185.5(IL7R):c.539A>C (p.His180Pro)
|
rs193922642
|
0.00005
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
|
rs193922464
|
0.00004
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=)
|
rs193922633
|
0.00004
|
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)
|
rs193922641
|
0.00004
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000246.4(CIITA):c.2888+1G>A
|
rs372826934
|
0.00003
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)
|
rs193922574
|
0.00003
|
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)
|
rs36001797
|
0.00003
|
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
|
rs121908156
|
0.00003
|
NM_001625.4(AK2):c.498+1G>A
|
rs777503956
|
0.00003
|
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)
|
rs267606645
|
0.00003
|
NM_002185.5(IL7R):c.2T>G (p.Met1Arg)
|
rs200076125
|
0.00003
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)
|
rs104894289
|
0.00002
|
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)
|
rs28933392
|
0.00002
|
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)
|
rs1313207845
|
0.00002
|
NM_003721.4(RFXANK):c.338-25_338del
|
rs776752313
|
0.00002
|
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
|
rs1233957241
|
0.00001
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)
|
rs1060501625
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter)
|
rs1948391148
|
0.00001
|
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)
|
rs267605358
|
0.00001
|
NM_000215.4(JAK3):c.1767C>T (p.Gly589=)
|
rs193922362
|
0.00001
|
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)
|
rs199474685
|
0.00001
|
NM_000448.3(RAG1):c.1421G>A (p.Arg474His)
|
rs199474686
|
0.00001
|
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)
|
rs104894285
|
0.00001
|
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)
|
rs121918572
|
0.00001
|
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)
|
rs121918569
|
0.00001
|
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)
|
rs757797994
|
0.00001
|
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys)
|
rs1389614116
|
0.00001
|
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)
|
rs121918570
|
0.00001
|
NM_000536.4(RAG2):c.328A>C (p.Met110Leu)
|
rs193922575
|
0.00001
|
NM_000733.4(CD3E):c.70+4del
|
rs193922619
|
0.00001
|
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys)
|
rs113994174
|
0.00001
|
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter)
|
rs104894562
|
0.00001
|
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)
|
rs587778405
|
0.00001
|
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter)
|
rs747402973
|
0.00001
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)
|
rs745508510
|
0.00001
|
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)
|
rs372598000
|
0.00001
|
NM_206937.2(LIG4):c.845A>T (p.His282Leu)
|
rs777008519
|
0.00001
|
NC_000009.11:g.(215030_271626)_(328172_332397)dup
|
|
|
NC_000009.11:g.(215030_271626)_(336719_339005)dup
|
|
|
NC_000009.11:g.(215030_271626)_(399260_404917)dup
|
|
|
NC_000009.11:g.(407070_414781)_(434976_439244)del
|
|
|
NC_000009.11:g.(?_214864)_(215030_271626)del
|
|
|
NC_000009.11:g.(?_214864)_(271730_286460)del
|
|
|
NC_000009.11:g.(?_214864)_(399260_404917)del
|
|
|
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
|
|
|
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
|
|
|
NC_000011.9:g.(108129803_108137897)_(108239830_?)del
|
|
|
NC_000011.9:g.(118215194_118219741)_(118224498_?)del
|
|
|
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)
|
rs121908714
|
|
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)
|
rs1452483770
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.466C>A (p.Arg156Ser)
|
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
|
|
|
NM_000022.4(ADA):c.872C>G (p.Ser291Trp)
|
rs121908721
|
|
NM_000022.4(ADA):c.95+1G>A
|
rs778343059
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.975+1G>A
|
rs2065325898
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.3(ATM):c.8419delG
|
rs2137023331
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.2023del (p.Gln675fs)
|
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
NM_000051.4(ATM):c.2441del (p.Asp814fs)
|
rs1565400045
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2639-19_2639-7del
|
rs1591593439
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.331+2T>C
|
rs1555055358
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)
|
rs2135760623
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4358del (p.Ile1453fs)
|
rs2082679287
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
|
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4844del (p.Lys1615fs)
|
rs1555101791
|
|
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)
|
rs1565357383
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
NM_000051.4(ATM):c.5177+1G>A
|
rs1131691159
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)
|
rs1591789955
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6452+2T>C
|
rs1064795006
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6808-242_7516-275del
|
|
|
NM_000051.4(ATM):c.681dup (p.Gly228fs)
|
rs1591503359
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7515+1G>T
|
rs1591161831
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
|
rs2086411154
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
|
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
NM_000051.4(ATM):c.829del (p.Glu277fs)
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
NM_000051.4(ATM):c.8733del (p.Arg2912fs)
|
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
|
|
NM_000073.3(CD3G):c.213del (p.Lys71fs)
|
rs570768621
|
|
NM_000073.3(CD3G):c.213dup (p.Trp72fs)
|
rs570768621
|
|
NM_000073.3(CD3G):c.484-1G>A
|
|
|
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)
|
rs2092262517
|
|
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter)
|
rs1569480082
|
|
NM_000206.3(IL2RG):c.270-1G>T
|
rs193922346
|
|
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)
|
rs193922347
|
|
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)
|
rs2092261347
|
|
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)
|
rs1057517747
|
|
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)
|
rs193922348
|
|
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)
|
rs1569479994
|
|
NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser)
|
rs193922349
|
|
NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter)
|
rs1556330249
|
|
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)
|
rs193922350
|
|
NM_000206.3(IL2RG):c.758-2A>G
|
rs2147747509
|
|
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)
|
rs137852508
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
NM_000215.4(JAK3):c.1442-2A>G
|
|
|
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
|
rs193922361
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
NM_000215.4(JAK3):c.1890G>A (p.Gln630=)
|
rs193922363
|
|
NM_000215.4(JAK3):c.1915-11G>A
|
|
|
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
|
|
|
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs)
|
rs1555743321
|
|
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
|
|
|
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
|
|
|
NM_000215.4(JAK3):c.308+16del
|
rs3212717
|
|
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)
|
rs193922364
|
|
NM_000270.4(PNP):c.286-18G>A
|
rs1026474882
|
|
NM_000270.4(PNP):c.520G>C (p.Ala174Pro)
|
rs104894454
|
|
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
|
|
|
NM_000377.2(WAS):c.509_510del
|
rs2062418811
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
NM_000377.3(WAS):c.1271dup (p.Leu425fs)
|
rs1557007312
|
|
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)
|
rs2062432605
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
NM_000377.3(WAS):c.257G>C (p.Arg86Pro)
|
rs132630268
|
|
NM_000377.3(WAS):c.290G>A (p.Trp97Ter)
|
rs1557006474
|
|
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)
|
rs193922414
|
|
NM_000377.3(WAS):c.35dup (p.Arg13fs)
|
rs2062410421
|
|
NM_000377.3(WAS):c.360+1G>A
|
rs1057520700
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
NM_000377.3(WAS):c.553C>T (p.Gln185Ter)
|
rs1557006672
|
|
NM_000377.3(WAS):c.763dup (p.Gln255fs)
|
rs193922416
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
NM_000377.3(WAS):c.852del (p.Glu285fs)
|
rs1557007035
|
|
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)
|
rs1557007123
|
|
NM_000377.3(WAS):c.984del (p.Pro330fs)
|
|
|
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)
|
rs764981110
|
|
NM_000448.3(RAG1):c.1297G>A (p.Val433Met)
|
rs199474679
|
|
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly)
|
rs772340017
|
|
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser)
|
rs199474681
|
|
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)
|
|
|
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
|
|
|
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
|
|
|
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)
|
rs193922463
|
|
NM_000448.3(RAG1):c.775del (p.Ser259fs)
|
rs878853031
|
|
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)
|
rs148508754
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)
|
rs909264507
|
|
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs)
|
rs2138212278
|
|
NM_000538.4(RFXAP):c.600+1G>T
|
|
|
NM_000593.6(TAP1):c.-46_-45delinsAT
|
rs1770963822
|
|
NM_000732.6(CD3D):c.107del (p.Asn36fs)
|
|
|
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
|
|
|
NM_000733.4(CD3E):c.567+65_567+66del
|
rs386134229
|
|
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
|
|
|
NM_001025603.2(RFX5):c.233+1G>T
|
|
|
NM_001025603.2(RFX5):c.555+1G>C
|
rs367771361
|
|
NM_001025603.2(RFX5):c.859-2A>G
|
|
|
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)
|
rs1354336544
|
|
NM_001033855.3(DCLRE1C):c.161+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.247-1G>C
|
rs2131027668
|
|
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)
|
|
|
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)
|
rs969498121
|
|
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly)
|
rs1573261820
|
|
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)
|
|
|
NM_001369369.1(FOXN1):c.1216_1247dup (p.Gly418fs)
|
|
|
NM_001556.3(IKBKB):c.1673del (p.Gly558fs)
|
|
|
NM_001556.3(IKBKB):c.2205+2T>C
|
rs2130736002
|
|
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter)
|
rs1818665697
|
|
NM_001625.4(AK2):c.330+1G>C
|
rs1639559794
|
|
NM_001625.4(AK2):c.498_499dup (p.Ile167fs)
|
rs1638975235
|
|
NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs)
|
rs1398317449
|
|
NM_001625.4(AK2):c.523C>G (p.Arg175Gly)
|
rs1375379850
|
|
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter)
|
rs1638959411
|
|
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)
|
rs193922640
|
|
NM_002185.5(IL7R):c.361dup (p.Ile121fs)
|
rs869312857
|
|
NM_002185.5(IL7R):c.437_438del (p.Phe146fs)
|
rs1561423197
|
|
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter)
|
rs193922643
|
|
NM_002185.5(IL7R):c.644G>T (p.Gly215Val)
|
rs193922645
|
|
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
|
|
|
NM_002185.5(IL7R):c.83-18A>G
|
rs193922646
|
|
NM_002838.5(PTPRC):c.100+1del
|
rs1665977328
|
|
NM_005356.5(LCK):c.277C>T (p.Gln93Ter)
|
|
|
NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter)
|
rs920392170
|
|
NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)
|
|
|
NM_005956.4(MTHFD1):c.2529del (p.Glu844fs)
|
rs2140987866
|
|
NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)
|
|
|
NM_006282.5(STK4):c.395C>A (p.Ser132Ter)
|
|
|
NM_006282.5(STK4):c.831+2T>C
|
|
|
NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs)
|
rs2144484602
|
|
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs)
|
rs2151063606
|
|
NM_015599.3(PGM3):c.-2-185C>T
|
rs565900346
|
|
NM_015599.3(PGM3):c.114_118del (p.Met39fs)
|
|
|
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
|
|
|
NM_015599.3(PGM3):c.1539+2T>C
|
rs1786839596
|
|
NM_015599.3(PGM3):c.162del (p.Lys54fs)
|
|
|
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)
|
rs587777562
|
|
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter)
|
rs1670398017
|
|
NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)
|
|
|
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs)
|
rs886037607
|
|
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
|
rs772226399
|
|
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs)
|
rs759838407
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
|
NM_206937.2(LIG4):c.613del (p.Ser205fs)
|
rs780879476
|
|
NM_206937.2(LIG4):c.799_800del (p.Ser267fs)
|
rs1566366148
|
|
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)
|
|
|