ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 501
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HGVS dbSNP
ADA, 3.25-KB DEL, ALU-RELATED
ADA, IVS2DS, G-A, +1
AK2, 331, G-A, -1
AK2, 498, G-A, +1
AK2, EX2 DEL
DCLRE1C, EX1-4DEL
DCLRE1C, EX5-6DEL
DCLRE1C, EX5-8DEL
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
LRG_16:g.34081_34084delCAGAins17
NC_000001.11:g.(?_33024422)_(33024587_?)del
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NC_000010.11:g.(?_14939790)_(14939889_?)dup
NC_000010.11:g.(?_14945085)_(14945209_?)del
NC_000010.11:g.(?_14945085)_(14954030_?)del
NC_000020.11:g.(?_44651555)_(44651627_?)del
NG_007385.1:g.34088_34089ins5 rs757796081
NM_000022.2(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.2(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.2(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.2(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.2(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.2(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.2(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.2(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.2(ADA):c.478+1G>A rs761242509
NM_000022.2(ADA):c.534A>G (p.Val178=) rs244076
NM_000022.2(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.2(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.2(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.2(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000022.2(ADA):c.956_960delAAGAG (p.Glu319Glyfs) rs771266745
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.3(ADA):c.*152C>T rs560858565
NM_000022.3(ADA):c.*173G>C rs11906526
NM_000022.3(ADA):c.*174T>A rs886056706
NM_000022.3(ADA):c.*282C>T rs188755077
NM_000022.3(ADA):c.-101G>A rs36216718
NM_000022.3(ADA):c.-10C>G rs886056709
NM_000022.3(ADA):c.1078+2T>A rs1555843178
NM_000022.3(ADA):c.1091del (p.Ter364=) rs1555843039
NM_000022.3(ADA):c.110C>T (p.Ala37Val) rs151336936
NM_000022.3(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.3(ADA):c.218+1G>A rs528390681
NM_000022.3(ADA):c.218+2T>G rs1555845120
NM_000022.3(ADA):c.218+2dup rs1555845122
NM_000022.3(ADA):c.219-1G>A rs751147673
NM_000022.3(ADA):c.219-2A>G rs387906267
NM_000022.3(ADA):c.220G>T (p.Gly74Cys) rs121908730
NM_000022.3(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.3(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.3(ADA):c.248C>A (p.Ala83Asp) rs121908726
NM_000022.3(ADA):c.260T>C (p.Val87Ala)
NM_000022.3(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.3(ADA):c.302G>T (p.Arg101Leu) rs121908714
NM_000022.3(ADA):c.311C>T (p.Pro104Leu)
NM_000022.3(ADA):c.33+1G>C rs587776534
NM_000022.3(ADA):c.350G>A (p.Trp117Ter) rs749484894
NM_000022.3(ADA):c.36A>G (p.Val12=) rs394105
NM_000022.3(ADA):c.383_404dup (p.Leu137Glyfs) rs1555844616
NM_000022.3(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.3(ADA):c.396dup (p.Val133Serfs) rs1555844617
NM_000022.3(ADA):c.402C>T (p.Gly134=) rs146921882
NM_000022.3(ADA):c.419G>A (p.Gly140Glu) rs121908732
NM_000022.3(ADA):c.424C>T (p.Arg142Ter) rs780014431
NM_000022.3(ADA):c.445C>T (p.Arg149Trp) rs121908733
NM_000022.3(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.3(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.3(ADA):c.467G>T (p.Arg156Leu) rs121908722
NM_000022.3(ADA):c.478+6T>A rs1555844600
NM_000022.3(ADA):c.479-3_479-2del rs1555844457
NM_000022.3(ADA):c.525G>A (p.Gln175=) rs769506264
NM_000022.3(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.3(ADA):c.532delG (p.Val178Terfs) rs886041796
NM_000022.3(ADA):c.536C>A (p.Ala179Asp) rs121908727
NM_000022.3(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.3(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.3(ADA):c.594C>T (p.Val198=) rs886056708
NM_000022.3(ADA):c.596A>C (p.Gln199Pro) rs121908734
NM_000022.3(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.3(ADA):c.606+10G>A rs201045221
NM_000022.3(ADA):c.61T>G (p.Ser21Ala)
NM_000022.3(ADA):c.639C>T (p.Val213=) rs575603724
NM_000022.3(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.3(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.3(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.3(ADA):c.663C>T (p.Ala221=) rs553639716
NM_000022.3(ADA):c.679-6C>T rs375562913
NM_000022.3(ADA):c.679-8C>T rs886056707
NM_000022.3(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.3(ADA):c.6C>T (p.Ala2=) rs767788896
NM_000022.3(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.3(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.3(ADA):c.715G>A (p.Gly239Ser) rs777820729
NM_000022.3(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.3(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.3(ADA):c.758G>A (p.Arg253Gln) rs148994526
NM_000022.3(ADA):c.781-4_781-3ins8 rs781605283
NM_000022.3(ADA):c.790del (p.Trp264Glyfs) rs1555844006
NM_000022.3(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.3(ADA):c.831G>T (p.Glu277Asp) rs542229902
NM_000022.3(ADA):c.834T>C (p.His278=) rs116962828
NM_000022.3(ADA):c.845+1G>C rs766590645
NM_000022.3(ADA):c.890C>A (p.Pro297Gln) rs121908718
NM_000022.3(ADA):c.911T>G (p.Leu304Arg) rs199422327
NM_000022.3(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.3(ADA):c.95+1G>A rs778343059
NM_000022.3(ADA):c.95+9A>G rs765216
NM_000022.3(ADA):c.[780+1G>A];[986C>T]
NM_000022.4(ADA):c.44A>T (p.His15Leu)
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.[455T>C;478+6T>C]
NM_000022.4:c.367delG
NM_000215.3(JAK3):c.3103del (p.Leu1035Cysfs) rs1424732031
NM_000215.3(JAK3):c.3257C>T (p.Pro1086Leu) rs777493612
NM_000448.2(RAG1):c.101G>A (p.Arg34Gln) rs377307948
NM_000448.2(RAG1):c.1060C>A (p.Leu354Met) rs753165042
NM_000448.2(RAG1):c.1064T>C (p.Met355Thr)
NM_000448.2(RAG1):c.1187G>A (p.Arg396His) rs104894291
NM_000448.2(RAG1):c.1202C>T (p.Ser401Leu)
NM_000448.2(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) rs199474685
NM_000448.2(RAG1):c.1346G>A (p.Arg449Lys) rs4151031
NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) rs193922461
NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) rs104894285
NM_000448.2(RAG1):c.1742T>C (p.Met581Thr) rs1317842420
NM_000448.2(RAG1):c.1761T>G (p.Asp587Glu) rs1554944973
NM_000448.2(RAG1):c.189A>G (p.Pro63=) rs34357808
NM_000448.2(RAG1):c.191C>T (p.Ala64Val)
NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) rs199474676
NM_000448.2(RAG1):c.2258A>T (p.His753Leu) rs199474687
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)
NM_000448.2(RAG1):c.2451A>G (p.Glu817=) rs61758791
NM_000448.2(RAG1):c.2500G>T (p.Ala834Ser) rs1215266586
NM_000448.2(RAG1):c.251A>G (p.His84Arg) rs150199231
NM_000448.2(RAG1):c.2527A>G (p.Lys843Glu)
NM_000448.2(RAG1):c.256_257delAA (p.Lys86Valfs) rs772962160
NM_000448.2(RAG1):c.2571C>T (p.Ala857=) rs141560248
NM_000448.2(RAG1):c.2638G>A (p.Glu880Lys) rs4151033
NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) rs4151034
NM_000448.2(RAG1):c.2715C>T (p.Cys905=) rs138119069
NM_000448.2(RAG1):c.2774C>T (p.Thr925Met)
NM_000448.2(RAG1):c.2799A>G (p.Gly933=) rs769375583
NM_000448.2(RAG1):c.2974A>G (p.Lys992Glu) rs539590514
NM_000448.2(RAG1):c.2981A>G (p.His994Arg) rs775412266
NM_000448.2(RAG1):c.3016A>G (p.Met1006Val) rs139113046
NM_000448.2(RAG1):c.303G>A (p.Ala101=) rs4151025
NM_000448.2(RAG1):c.335G>A (p.Arg112His) rs749223640
NM_000448.2(RAG1):c.424C>T (p.Arg142Ter)
NM_000448.2(RAG1):c.549G>A (p.Met183Ile)
NM_000448.2(RAG1):c.577G>A (p.Glu193Lys) rs34841221
NM_000448.2(RAG1):c.60C>T (p.His20=) rs138801620
NM_000448.2(RAG1):c.725A>G (p.Gln242Arg) rs76897604
NM_000448.2(RAG1):c.746G>A (p.Arg249His) rs3740955
NM_000448.2(RAG1):c.830A>G (p.Lys277Arg) rs1027087402
NM_000448.2(RAG1):c.851C>T (p.Pro284Leu) rs1554944775
NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) rs4151030
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
NM_000448.2:c.987delC
NM_000536.3(RAG2):c.104G>T (p.Gly35Val)
NM_000536.3(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.3(RAG2):c.1158C>A (p.Phe386Leu) rs34629171
NM_000536.3(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.3(RAG2):c.1191_1193delTGA (p.Asp397del)
NM_000536.3(RAG2):c.1198G>C (p.Asp400His) rs140682926
NM_000536.3(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.3(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592
NM_000536.3(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.3(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.3(RAG2):c.1421A>G (p.Asn474Ser)
NM_000536.3(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.3(RAG2):c.14T>A (p.Met5Lys) rs143415103
NM_000536.3(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.3(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.3(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.3(RAG2):c.35T>C (p.Ile12Thr)
NM_000536.3(RAG2):c.368G>A (p.Arg123His) rs144012817
NM_000536.3(RAG2):c.541T>C (p.Cys181Arg)
NM_000536.3(RAG2):c.562G>C (p.Glu188Gln) rs1554947160
NM_000536.3(RAG2):c.595G>T (p.Glu199Ter) rs748727021
NM_000536.3(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.3(RAG2):c.685C>T (p.Arg229Trp)
NM_000536.3(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.3(RAG2):c.741G>A (p.Val247=) rs34092949
NM_000536.3(RAG2):c.809A>G (p.Glu270Gly)
NM_000536.3(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_000536.3(RAG2):c.899G>A (p.Arg300His) rs138857320
NM_000536.3(RAG2):c.908A>G (p.Glu303Gly)
NM_000536.3(RAG2):c.909G>T (p.Glu303Asp) rs141025671
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_001033855.1(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001033855.2(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.2(DCLRE1C):c.1261G>A (p.Val421Ile)
NM_001033855.2(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881
NM_001033855.2(DCLRE1C):c.1346_1352del (p.Asp451Lysfs) rs786200884
NM_001033855.2(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.2(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914
NM_001033855.2(DCLRE1C):c.1385_1387delAAG (p.Glu462del) rs373709012
NM_001033855.2(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.2(DCLRE1C):c.1524T>G (p.Pro508=) rs751349938
NM_001033855.2(DCLRE1C):c.1669_1670insA (p.Thr557Asnfs) rs886037924
NM_001033855.2(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101
NM_001033855.2(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769
NM_001033855.2(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491
NM_001033855.2(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.2(DCLRE1C):c.1902_1903delAA (p.Ser635Phefs) rs760288938
NM_001033855.2(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.2(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.2(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.2(DCLRE1C):c.2012_2013delAT (p.Tyr671Terfs)
NM_001033855.2(DCLRE1C):c.2029G>A (p.Gly677Ser)
NM_001033855.2(DCLRE1C):c.2039T>C (p.Ile680Thr)
NM_001033855.2(DCLRE1C):c.2045T>A (p.Val682Asp)
NM_001033855.2(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097
NM_001033855.2(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.2(DCLRE1C):c.30G>A (p.Glu10=) rs768356794
NM_001033855.2(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001033855.2(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016
NM_001033855.2(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.2(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849
NM_001033855.2(DCLRE1C):c.586C>T (p.Arg196Trp)
NM_001033855.2(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.2(DCLRE1C):c.675C>T (p.Val225=) rs150805064
NM_001033855.2(DCLRE1C):c.678+5G>A
NM_001033855.2(DCLRE1C):c.686T>C (p.Val229Ala)
NM_001033855.2(DCLRE1C):c.762T>C (p.His254=) rs143042511
NM_001033855.2(DCLRE1C):c.945T>C (p.Cys315=) rs747818099
NM_001033855.2(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001033855.2(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu)
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635Lysfs) rs760288938
NM_001033855.3(DCLRE1C):c.362+1G>T
NM_001033855.3(DCLRE1C):c.917+1G>A
NM_001033855.3(DCLRE1C):c.972+1G>C
NM_001042771.2(LCK):c.1195+4C>T rs142706318
NM_001042771.2(LCK):c.1328-7C>T rs577301476
NM_001042771.2(LCK):c.134G>A (p.Arg45Gln) rs145088108
NM_001042771.2(LCK):c.1497G>A (p.Thr499=) rs375587756
NM_001042771.2(LCK):c.161C>G (p.Ser54Cys) rs147431889
NM_001042771.2(LCK):c.171G>A (p.Pro57=) rs528967735
NM_001042771.2(LCK):c.559G>A (p.Asp187Asn) rs539280346
NM_001042771.2(LCK):c.601G>A (p.Gly201Ser)
NM_001042771.2(LCK):c.632A>T (p.Asn211Ile)
NM_001042771.2(LCK):c.803C>T (p.Thr268Met)
NM_001042771.2(LCK):c.84C>T (p.Val28=) rs144437329
NM_001042771.2(LCK):c.851C>G (p.Ala284Gly)
NM_001042771.2(LCK):c.888A>G (p.Gln296=) rs35029770
NM_001081640.1(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085
NM_001243785.1(RAG2):c.283G>A (p.Gly95Arg) rs36001797
NM_001625.3(AK2):c.199A>G (p.Thr67Ala) rs771799826
NM_001625.3(AK2):c.220-5delT rs752085550
NM_001625.3(AK2):c.247A>G (p.Ile83Val)
NM_001625.3(AK2):c.255G>A (p.Lys85=) rs41301072
NM_001625.3(AK2):c.277A>G (p.Lys93Glu) rs767276648
NM_001625.3(AK2):c.386G>A (p.Ser129Asn) rs61750965
NM_001625.3(AK2):c.457C>G (p.His153Asp)
NM_001625.3(AK2):c.49C>G (p.Arg17Gly) rs138577419
NM_001625.3(AK2):c.504C>T (p.Thr168=) rs61750964
NM_001625.3(AK2):c.571C>G (p.His191Asp) rs80324279
NM_001625.3(AK2):c.603C>T (p.Tyr201=) rs138151595
NM_001625.3(AK2):c.625G>A (p.Ala209Thr) rs12116440
NM_001625.3(AK2):c.630C>T (p.Ile210=) rs746330303
NM_001625.3(AK2):c.631G>A (p.Asp211Asn)
NM_001625.3(AK2):c.670C>G (p.Leu224Val)
NM_001625.3(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_002312.3(LIG4):c.*1035G>A rs10131
NM_002312.3(LIG4):c.*104C>G rs2232644
NM_002312.3(LIG4):c.*1081C>T rs113388531
NM_002312.3(LIG4):c.*129A>G rs3093767
NM_002312.3(LIG4):c.*131A>T rs3093768
NM_002312.3(LIG4):c.*166G>C rs538355612
NM_002312.3(LIG4):c.*204A>G rs3093769
NM_002312.3(LIG4):c.*242A>G rs886049946
NM_002312.3(LIG4):c.*26delC rs886049948
NM_002312.3(LIG4):c.*285A>G rs748776641
NM_002312.3(LIG4):c.*306A>G rs886049945
NM_002312.3(LIG4):c.*34T>G rs369320737
NM_002312.3(LIG4):c.*352A>C rs886049944
NM_002312.3(LIG4):c.*486A>G rs543340651
NM_002312.3(LIG4):c.*54G>A rs2232643
NM_002312.3(LIG4):c.*562_*563insAAT rs112171260
NM_002312.3(LIG4):c.*56G>C rs886049947
NM_002312.3(LIG4):c.*599_*602delCTTA rs3093770
NM_002312.3(LIG4):c.*614A>C rs3093771
NM_002312.3(LIG4):c.*625_*629delAATTG rs544474901
NM_002312.3(LIG4):c.*677A>G rs3093772
NM_002312.3(LIG4):c.*738G>A rs567294082
NM_002312.3(LIG4):c.*826A>T rs116018061
NM_002312.3(LIG4):c.*855_*856insTTTT rs146506306
NM_002312.3(LIG4):c.*906T>A rs886049943
NM_002312.3(LIG4):c.*983G>A rs75642465
NM_002312.3(LIG4):c.-132A>G rs117159741
NM_002312.3(LIG4):c.-196G>A rs1805385
NM_002312.3(LIG4):c.-260G>C rs886049950
NM_002312.3(LIG4):c.-273C>T rs1805387
NM_002312.3(LIG4):c.-282T>C rs1009787521
NM_002312.3(LIG4):c.-29+15T>G rs183107946
NM_002312.3(LIG4):c.-32C>T rs536441091
NM_002312.3(LIG4):c.-7C>T rs4987182
NM_002312.3(LIG4):c.1020A>G (p.Gln340=) rs535025599
NM_002312.3(LIG4):c.1198A>C (p.Ile400Leu) rs886049949
NM_002312.3(LIG4):c.1252T>C (p.Leu418=) rs147181971
NM_002312.3(LIG4):c.13C>A (p.Gln5Lys) rs143590752
NM_002312.3(LIG4):c.1568C>G (p.Ala523Gly) rs781102255
NM_002312.3(LIG4):c.1617A>T (p.Leu539Phe) rs3742212
NM_002312.3(LIG4):c.1704T>C (p.Asp568=) rs1805386
NM_002312.3(LIG4):c.1756G>T (p.Asp586Tyr) rs753492255
NM_002312.3(LIG4):c.180C>T (p.Val60=) rs2232637
NM_002312.3(LIG4):c.1983T>C (p.Asp661=) rs199638675
NM_002312.3(LIG4):c.2222G>A (p.Arg741His) rs143767581
NM_002312.3(LIG4):c.2274T>C (p.Tyr758=) rs529756815
NM_002312.3(LIG4):c.2499T>C (p.Asn833=) rs769297575
NM_002312.3(LIG4):c.2518A>G (p.Ile840Val) rs200369995
NM_002312.3(LIG4):c.2525C>A (p.Ala842Asp) rs72660870
NM_002312.3(LIG4):c.2549C>T (p.Ala850Val) rs188422094
NM_002312.3(LIG4):c.2569G>A (p.Ala857Thr) rs2232642
NM_002312.3(LIG4):c.26C>T (p.Thr9Ile) rs1805388
NM_002312.3(LIG4):c.437A>G (p.Gln146Arg) rs754996739
NM_002312.3(LIG4):c.500T>G (p.Ile167Arg) rs138021217
NM_002312.3(LIG4):c.513T>C (p.Leu171=) rs3093764
NM_002312.3(LIG4):c.560T>C (p.Ile187Thr) rs199854013
NM_002312.3(LIG4):c.563G>A (p.Arg188Gln) rs748385144
NM_002312.3(LIG4):c.607A>G (p.Ile203Val) rs778278351
NM_002312.3(LIG4):c.807C>T (p.Tyr269=) rs2232638
NM_002312.3(LIG4):c.8C>T (p.Ala3Val) rs1805389
NM_002312.3(LIG4):c.915T>C (p.Ser305=) rs2232639
NM_005356.4(LCK):c.1022T>C (p.Leu341Pro) rs587777335
NM_006904.6(PRKDC):c.1003A>C (p.Lys335Gln)
NM_006904.6(PRKDC):c.10042C>T (p.Leu3348Phe)
NM_006904.6(PRKDC):c.1017G>T (p.Gln339His)
NM_006904.6(PRKDC):c.10184_10186delAGG (p.Glu3395del)
NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225
NM_006904.6(PRKDC):c.10322C>T (p.Ala3441Val) rs757868901
NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228
NM_006904.6(PRKDC):c.10626C>T (p.Phe3542=) rs8178231
NM_006904.6(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232
NM_006904.6(PRKDC):c.10700T>A (p.Val3567Glu)
NM_006904.6(PRKDC):c.10721C>T (p.Ala3574Val) rs587777686
NM_006904.6(PRKDC):c.10750C>T (p.Leu3584Phe) rs55866966
NM_006904.6(PRKDC):c.10979A>G (p.Asn3660Ser)
NM_006904.6(PRKDC):c.11029C>T (p.Pro3677Ser) rs55924155
NM_006904.6(PRKDC):c.11048G>A (p.Cys3683Tyr) rs148018130
NM_006904.6(PRKDC):c.11222G>T (p.Arg3741Leu) rs759518580
NM_006904.6(PRKDC):c.11288G>A (p.Arg3763His)
NM_006904.6(PRKDC):c.11379T>C (p.Val3793=) rs55769154
NM_006904.6(PRKDC):c.11490-1G>A rs1554623754
NM_006904.6(PRKDC):c.11561C>T (p.Ala3854Val)
NM_006904.6(PRKDC):c.11606C>T (p.Thr3869Met)
NM_006904.6(PRKDC):c.11698C>G (p.Leu3900Val)
NM_006904.6(PRKDC):c.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.6(PRKDC):c.11754C>T (p.Leu3918=) rs774251901
NM_006904.6(PRKDC):c.11805C>T (p.Gly3935=) rs8178249
NM_006904.6(PRKDC):c.11806G>A (p.Gly3936Ser)
NM_006904.6(PRKDC):c.11814C>T (p.Ile3938=) rs750761283
NM_006904.6(PRKDC):c.11920A>G (p.Met3974Val)
NM_006904.6(PRKDC):c.12049G>C (p.Glu4017Gln)
NM_006904.6(PRKDC):c.12138C>T (p.Tyr4046=) rs56123237
NM_006904.6(PRKDC):c.12216T>A (p.Pro4072=) rs570143368
NM_006904.6(PRKDC):c.12292C>A (p.Leu4098Ile) rs1323956173
NM_006904.6(PRKDC):c.129C>T (p.Val43=) rs373856605
NM_006904.6(PRKDC):c.1337T>A (p.Phe446Tyr) rs534735519
NM_006904.6(PRKDC):c.1338C>A (p.Phe446Leu) rs61729514
NM_006904.6(PRKDC):c.1389G>A (p.Lys463=) rs772883495
NM_006904.6(PRKDC):c.1525C>T (p.Arg509Cys)
NM_006904.6(PRKDC):c.1526G>A (p.Arg509His)
NM_006904.6(PRKDC):c.1535G>T (p.Gly512Val) rs549230210
NM_006904.6(PRKDC):c.1640A>G (p.Asp547Gly) rs1455158671
NM_006904.6(PRKDC):c.1676G>C (p.Ser559Thr) rs1038089558
NM_006904.6(PRKDC):c.16G>T (p.Ala6Ser) rs8177999
NM_006904.6(PRKDC):c.1776+1523dup rs546905091
NM_006904.6(PRKDC):c.17C>T (p.Ala6Val)
NM_006904.6(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033
NM_006904.6(PRKDC):c.1818A>G (p.Ser606=) rs368804788
NM_006904.6(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511
NM_006904.6(PRKDC):c.1896G>A (p.Glu632=) rs774814292
NM_006904.6(PRKDC):c.1911A>G (p.Lys637=) rs45438803
NM_006904.6(PRKDC):c.2040A>G (p.Ile680Met) rs8178040
NM_006904.6(PRKDC):c.2083C>T (p.Pro695Ser) rs8178046
NM_006904.6(PRKDC):c.2112T>A (p.Phe704Leu) rs1000728174
NM_006904.6(PRKDC):c.2143G>A (p.Ala715Thr)
NM_006904.6(PRKDC):c.2220C>T (p.Ile740=) rs191477681
NM_006904.6(PRKDC):c.2245G>A (p.Val749Ile)
NM_006904.6(PRKDC):c.2249C>T (p.Pro750Leu)
NM_006904.6(PRKDC):c.234T>C (p.Phe78=)
NM_006904.6(PRKDC):c.2551A>C (p.Ile851Leu)
NM_006904.6(PRKDC):c.2599A>C (p.Asn867His)
NM_006904.6(PRKDC):c.2629G>C (p.Asp877His) rs200560953
NM_006904.6(PRKDC):c.2667G>C (p.Glu889Asp)
NM_006904.6(PRKDC):c.2717T>C (p.Phe906Ser)
NM_006904.6(PRKDC):c.2801T>C (p.Leu934Ser)
NM_006904.6(PRKDC):c.2934+5G>C rs8178060
NM_006904.6(PRKDC):c.3101G>A (p.Arg1034Gln) rs200669578
NM_006904.6(PRKDC):c.3148_3150delGAG (p.Glu1050del)
NM_006904.6(PRKDC):c.3212A>G (p.Asn1071Ser) rs8178070
NM_006904.6(PRKDC):c.3222G>A (p.Lys1074=) rs183986754
NM_006904.6(PRKDC):c.3315G>T (p.Val1105=) rs56047668
NM_006904.6(PRKDC):c.3368C>T (p.Thr1123Ile)
NM_006904.6(PRKDC):c.3574T>C (p.Tyr1192His)
NM_006904.6(PRKDC):c.3698C>T (p.Ser1233Leu)
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006904.6(PRKDC):c.3759G>A (p.Thr1253=) rs8178087
NM_006904.6(PRKDC):c.37C>G (p.Leu13Val) rs761140462
NM_006904.6(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897
NM_006904.6(PRKDC):c.4059G>A (p.Pro1353=) rs762998738
NM_006904.6(PRKDC):c.4072-12_4072-9delAATC rs575629886
NM_006904.6(PRKDC):c.4124C>T (p.Thr1375Met)
NM_006904.6(PRKDC):c.4138G>A (p.Ala1380Thr)
NM_006904.6(PRKDC):c.4159G>A (p.Gly1387Arg) rs562542456
NM_006904.6(PRKDC):c.4178C>A (p.Ala1393Asp) rs544730211
NM_006904.6(PRKDC):c.4226C>T (p.Ser1409Phe)
NM_006904.6(PRKDC):c.422C>G (p.Ser141Cys) rs201231274
NM_006904.6(PRKDC):c.4271C>T (p.Thr1424Ile) rs1482599945
NM_006904.6(PRKDC):c.4375C>T (p.His1459Tyr) rs199524714
NM_006904.6(PRKDC):c.4413+7A>G rs773414458
NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143
NM_006904.6(PRKDC):c.4594C>T (p.Leu1532Phe) rs56387546
NM_006904.6(PRKDC):c.4630G>A (p.Gly1544Ser) rs746489977
NM_006904.6(PRKDC):c.4651A>G (p.Ile1551Val)
NM_006904.6(PRKDC):c.4774A>G (p.Met1592Val) rs368553930
NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His) rs8178106
NM_006904.6(PRKDC):c.4867C>A (p.Leu1623Met) rs1554638445
NM_006904.6(PRKDC):c.4883A>T (p.Lys1628Met)
NM_006904.6(PRKDC):c.4907A>G (p.Asp1636Gly) rs768811819
NM_006904.6(PRKDC):c.4936C>T (p.Leu1646=) rs1554638426
NM_006904.6(PRKDC):c.4962+8A>G rs767290425
NM_006904.6(PRKDC):c.5088T>G (p.Leu1696=) rs6992074
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006904.6(PRKDC):c.5235+10T>A rs8178111
NM_006904.6(PRKDC):c.5253A>G (p.Glu1751=) rs8178120
NM_006904.6(PRKDC):c.5363+2T>C
NM_006904.6(PRKDC):c.5466C>T (p.Arg1822=) rs1418857770
NM_006904.6(PRKDC):c.5571+5C>T rs780022870
NM_006904.6(PRKDC):c.5572-4G>A
NM_006904.6(PRKDC):c.5703T>A (p.His1901Gln)
NM_006904.6(PRKDC):c.5750+7T>C rs1231868709
NM_006904.6(PRKDC):c.5760C>T (p.Tyr1920=) rs188014107
NM_006904.6(PRKDC):c.5818T>C (p.Tyr1940His)
NM_006904.6(PRKDC):c.5845A>G (p.Ile1949Val) rs56083215
NM_006904.6(PRKDC):c.6067T>C (p.Ser2023Pro) rs56042895
NM_006904.6(PRKDC):c.6215G>A (p.Arg2072Gln)
NM_006904.6(PRKDC):c.6268C>T (p.Arg2090Trp) rs375294044
NM_006904.6(PRKDC):c.6325G>A (p.Gly2109Ser)
NM_006904.6(PRKDC):c.6338_6340delGAG (p.Gly2113del) rs79703138
NM_006904.6(PRKDC):c.6342A>G (p.Glu2114=) rs201300612
NM_006904.6(PRKDC):c.6348T>C (p.Asp2116=) rs200510022
NM_006904.6(PRKDC):c.6397C>G (p.Leu2133Val)
NM_006904.6(PRKDC):c.6441C>G (p.Ala2147=) rs376156239
NM_006904.6(PRKDC):c.6466-9C>T rs752823972
NM_006904.6(PRKDC):c.6480C>T (p.Tyr2160=) rs55991828
NM_006904.6(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703
NM_006904.6(PRKDC):c.6936T>C (p.Tyr2312=) rs55726602
NM_006904.6(PRKDC):c.7010T>C (p.Leu2337Pro) rs375706148
NM_006904.6(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400
NM_006904.6(PRKDC):c.7331C>T (p.Pro2444Leu) rs749527505
NM_006904.6(PRKDC):c.7405T>C (p.Cys2469Arg) rs147514951
NM_006904.6(PRKDC):c.7647G>A (p.Lys2549=) rs4425755
NM_006904.6(PRKDC):c.7750T>C (p.Cys2584Arg) rs746648336
NM_006904.6(PRKDC):c.7761+10T>C rs1481895843
NM_006904.6(PRKDC):c.7856G>A (p.Arg2619His)
NM_006904.6(PRKDC):c.7997C>T (p.Pro2666Leu)
NM_006904.6(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.6(PRKDC):c.8061G>T (p.Arg2687Ser)
NM_006904.6(PRKDC):c.8229T>C (p.Tyr2743=) rs562024708
NM_006904.6(PRKDC):c.8326C>T (p.Arg2776Trp)
NM_006904.6(PRKDC):c.8661C>T (p.Pro2887=) rs78163867
NM_006904.6(PRKDC):c.8685G>A (p.Glu2895=) rs547408689
NM_006904.6(PRKDC):c.8692C>T (p.Leu2898Phe)
NM_006904.6(PRKDC):c.8695C>T (p.Arg2899Cys) rs4278157
NM_006904.6(PRKDC):c.871G>A (p.Val291Met) rs372117480
NM_006904.6(PRKDC):c.8857A>T (p.Thr2953Ser) rs369402631
NM_006904.6(PRKDC):c.9030A>T (p.Ser3010=) rs759496711
NM_006904.6(PRKDC):c.9071C>T (p.Pro3024Leu)
NM_006904.6(PRKDC):c.9145C>T (p.Leu3049=) rs56053523
NM_006904.6(PRKDC):c.9217C>T (p.Leu3073Phe) rs55644332
NM_006904.6(PRKDC):c.9292A>G (p.Arg3098Gly)
NM_006904.6(PRKDC):c.9446G>A (p.Gly3149Asp) rs8178208
NM_006904.6(PRKDC):c.9557+4A>C rs140578467
NM_006904.6(PRKDC):c.9558-8T>C rs138258308
NM_006904.6(PRKDC):c.9558A>T (p.Arg3186=)
NM_006904.6(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216
NM_006904.6(PRKDC):c.967-10G>T rs186115112
NM_006904.6(PRKDC):c.9693C>A (p.Ile3231=) rs759916434
NM_006904.6(PRKDC):c.9783G>T (p.Glu3261Asp) rs772972161
NM_006904.6(PRKDC):c.9810C>T (p.Asp3270=) rs1361121924
NM_006904.6(PRKDC):c.9845G>A (p.Arg3282His)
NM_006904.6(PRKDC):c.9933C>T (p.Asn3311=) rs201592874
NM_006904.6(PRKDC):c.999G>A (p.Met333Ile) rs8178017
NM_013411.4(AK2):c.118del (p.Cys40Valfs) rs387906581
NM_013411.4(AK2):c.1A>G (p.Met1Val) rs137853206
NM_013411.4(AK2):c.25G>T (p.Glu9Ter) rs267606647
NM_013411.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_013411.4(AK2):c.453del (p.Tyr152Thrfs) rs1553151177
NM_013411.4(AK2):c.494A>G (p.Asp165Gly) rs267606643
NM_013411.4(AK2):c.523del (p.Arg175Aspfs) rs1553150995
NM_013411.4(AK2):c.556C>T (p.Arg186Cys) rs267606645
NM_013411.4(AK2):c.636_*2601del
NM_022487.3(DCLRE1C):c.435del (p.Ala146Glnfs) rs786205074

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