ClinVar Miner

List of variants reported as uncertain significance for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 406
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HGVS dbSNP
NC_000001.10:g.(?_33490023)_(33490188_?)del
NC_000008.10:g.(?_48686714)_(48872706_?)dup
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NM_000022.3(ADA):c.479-3_479-2del rs1555844457
NM_000022.3(ADA):c.781-4_781-3ins8 rs781605283
NM_000022.4(ADA):c.*152C>T rs560858565
NM_000022.4(ADA):c.*174T>A rs886056706
NM_000022.4(ADA):c.*282C>T rs188755077
NM_000022.4(ADA):c.-10C>G rs886056709
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr)
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer) rs1555843039
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.218+2dup rs1555845122
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.260T>C (p.Val87Ala)
NM_000022.4(ADA):c.298G>A (p.Val100Met)
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.313C>T (p.His105Tyr)
NM_000022.4(ADA):c.362+4A>G
NM_000022.4(ADA):c.422A>C (p.Glu141Ala)
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.467G>T (p.Arg156Leu) rs121908722
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.500A>G (p.Glu167Gly)
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.578T>A (p.Leu193His)
NM_000022.4(ADA):c.57C>A (p.Asp19Glu)
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.594C>T (p.Val198=) rs886056708
NM_000022.4(ADA):c.61T>G (p.Ser21Ala)
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.679-8C>T rs886056707
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717
NM_000022.4(ADA):c.758G>A (p.Arg253Gln) rs148994526
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) rs542229902
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828
NM_000022.4(ADA):c.844C>T (p.Arg282Trp)
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000215.3(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.3(JAK3):c.3257C>T (p.Pro1086Leu) rs777493612
NM_000448.2(RAG1):c.1012A>C (p.Thr338Pro)
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.1154T>C (p.Ile385Thr)
NM_000448.2(RAG1):c.1202C>T (p.Ser401Leu) rs1385203770
NM_000448.2(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.2(RAG1):c.1256A>G (p.Lys419Arg)
NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.2(RAG1):c.1468A>G (p.Thr490Ala)
NM_000448.2(RAG1):c.1559T>C (p.Phe520Ser)
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.191C>T (p.Ala64Val) rs1564988004
NM_000448.2(RAG1):c.2060G>A (p.Ser687Asn)
NM_000448.2(RAG1):c.2140C>T (p.Leu714Phe)
NM_000448.2(RAG1):c.2204C>T (p.Ala735Val)
NM_000448.2(RAG1):c.2258A>T (p.His753Leu) rs199474687
NM_000448.2(RAG1):c.232C>G (p.Gln78Glu)
NM_000448.2(RAG1):c.248C>T (p.Ala83Val)
NM_000448.2(RAG1):c.2500G>T (p.Ala834Ser) rs1215266586
NM_000448.2(RAG1):c.2516A>T (p.His839Leu)
NM_000448.2(RAG1):c.2527A>G (p.Lys843Glu)
NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) rs193922462
NM_000448.2(RAG1):c.2626G>A (p.Glu876Lys) rs145772007
NM_000448.2(RAG1):c.2774C>T (p.Thr925Met)
NM_000448.2(RAG1):c.283G>A (p.Glu95Lys)
NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) rs121918570
NM_000448.2(RAG1):c.2981A>G (p.His994Arg) rs775412266
NM_000448.2(RAG1):c.335G>A (p.Arg112His) rs749223640
NM_000448.2(RAG1):c.394C>T (p.Pro132Ser)
NM_000448.2(RAG1):c.432G>T (p.Lys144Asn)
NM_000448.2(RAG1):c.517A>T (p.Thr173Ser)
NM_000448.2(RAG1):c.527G>T (p.Cys176Phe) rs149229197
NM_000448.2(RAG1):c.549G>A (p.Met183Ile) rs750394886
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.94C>G (p.Leu32Val)
NM_000448.2(RAG1):c.997T>C (p.Tyr333His)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys)
NM_000536.4(RAG2):c.1185_1187TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile)
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys)
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg)
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr)
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg) rs1564996998
NM_000536.4(RAG2):c.562G>C (p.Glu188Gln) rs1554947160
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly)
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys)
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly)
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile)
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg)
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys)
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala)
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln)
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg)
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser)
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg)
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met)
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys)
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly)
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys)
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile)
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln)
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter)
NM_001033855.3(DCLRE1C):c.2010_2011AT[1] (p.Leu670_Tyr671insTer) rs1564361862
NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser)
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr)
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp)
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu)
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser)
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His)
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val)
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp)
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp)
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln)
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly)
NM_001033855.3(DCLRE1C):c.678+5G>A
NM_001033855.3(DCLRE1C):c.678+5G>T
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala)
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys)
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr)
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658
NM_001625.4(AK2):c.199A>G (p.Thr67Ala) rs771799826
NM_001625.4(AK2):c.224G>T (p.Ser75Ile)
NM_001625.4(AK2):c.247A>G (p.Ile83Val)
NM_001625.4(AK2):c.277A>G (p.Lys93Glu) rs767276648
NM_001625.4(AK2):c.307C>A (p.Arg103=)
NM_001625.4(AK2):c.330+5G>A
NM_001625.4(AK2):c.376A>G (p.Ile126Val)
NM_001625.4(AK2):c.419C>T (p.Thr140Ile)
NM_001625.4(AK2):c.457C>G (p.His153Asp) rs1164598375
NM_001625.4(AK2):c.462G>T (p.Glu154Asp)
NM_001625.4(AK2):c.470A>G (p.Asn157Ser)
NM_001625.4(AK2):c.471C>G (p.Asn157Lys)
NM_001625.4(AK2):c.488T>C (p.Met163Thr)
NM_001625.4(AK2):c.55G>A (p.Val19Met)
NM_001625.4(AK2):c.625G>T (p.Ala209Ser)
NM_001625.4(AK2):c.631G>A (p.Asp211Asn)
NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa)
NM_001625.4(AK2):c.638C>A (p.Ser213Tyr)
NM_001625.4(AK2):c.655G>A (p.Val219Met)
NM_001625.4(AK2):c.670C>G (p.Leu224Val)
NM_001625.4(AK2):c.720A>G (p.Ter240=)
NM_001625.4(AK2):c.94G>A (p.Ala32Thr)
NM_002312.3(LIG4):c.*104C>G rs2232644
NM_002312.3(LIG4):c.*166G>C rs538355612
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.*56G>C rs886049947
NM_002312.3(LIG4):c.*614A>C rs3093771
NM_002312.3(LIG4):c.*625_*629delAATTG rs544474901
NM_002312.3(LIG4):c.*738G>A rs567294082
NM_002312.3(LIG4):c.*906T>A rs886049943
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.-29+15T>G rs183107946
NM_002312.3(LIG4):c.-32C>T rs536441091
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.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.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.915T>C (p.Ser305=) rs2232639
NM_005356.5(LCK):c.1016A>G (p.Asn339Ser)
NM_005356.5(LCK):c.1382G>A (p.Arg461His)
NM_005356.5(LCK):c.252G>T (p.Lys84Asn)
NM_005356.5(LCK):c.559G>A (p.Asp187Asn) rs539280346
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
NM_005356.5(LCK):c.632A>T (p.Asn211Ile)
NM_005356.5(LCK):c.803C>T (p.Thr268Met) rs1557585827
NM_005356.5(LCK):c.851C>G (p.Ala284Gly)
NM_005356.5(LCK):c.896G>A (p.Arg299Gln)
NM_005356.5(LCK):c.90G>A (p.Leu30=)
NM_006904.6(PRKDC):c.1003A>C (p.Lys335Gln)
NM_006904.6(PRKDC):c.10042C>T (p.Leu3348Phe)
NM_006904.6(PRKDC):c.10054G>A (p.Glu3352Lys)
NM_006904.6(PRKDC):c.10066G>T (p.Ala3356Ser)
NM_006904.6(PRKDC):c.10178_10180AGG[2] (p.Glu3395del) rs1563740493
NM_006904.6(PRKDC):c.1017G>T (p.Gln339His)
NM_006904.6(PRKDC):c.10273C>T (p.Arg3425Cys)
NM_006904.6(PRKDC):c.10275C>T (p.Arg3425=)
NM_006904.6(PRKDC):c.10322C>T (p.Ala3441Val) rs757868901
NM_006904.6(PRKDC):c.1040G>A (p.Gly347Glu)
NM_006904.6(PRKDC):c.10468G>A (p.Val3490Ile)
NM_006904.6(PRKDC):c.10502A>T (p.His3501Leu)
NM_006904.6(PRKDC):c.10700T>A (p.Val3567Glu)
NM_006904.6(PRKDC):c.10759-8C>G
NM_006904.6(PRKDC):c.10904C>G (p.Thr3635Ser)
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.1115C>T (p.Pro372Leu)
NM_006904.6(PRKDC):c.11222G>T (p.Arg3741Leu) rs759518580
NM_006904.6(PRKDC):c.11276G>A (p.Arg3759Gln)
NM_006904.6(PRKDC):c.11288G>A (p.Arg3763His)
NM_006904.6(PRKDC):c.1133C>T (p.Ala378Val)
NM_006904.6(PRKDC):c.11490-1G>A rs1554623754
NM_006904.6(PRKDC):c.11512G>C (p.Glu3838Gln)
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.1171C>T (p.Arg391Cys)
NM_006904.6(PRKDC):c.11806G>A (p.Gly3936Ser)
NM_006904.6(PRKDC):c.11894G>A (p.Arg3965His)
NM_006904.6(PRKDC):c.11920A>G (p.Met3974Val)
NM_006904.6(PRKDC):c.11940G>A (p.Met3980Ile)
NM_006904.6(PRKDC):c.11944A>G (p.Ser3982Gly)
NM_006904.6(PRKDC):c.12026C>A (p.Pro4009His)
NM_006904.6(PRKDC):c.12042+3A>G
NM_006904.6(PRKDC):c.12049G>C (p.Glu4017Gln)
NM_006904.6(PRKDC):c.12292C>A (p.Leu4098Ile) rs1323956173
NM_006904.6(PRKDC):c.1337T>A (p.Phe446Tyr) rs534735519
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.1630A>G (p.Ile544Val)
NM_006904.6(PRKDC):c.1640A>G (p.Asp547Gly) rs1455158671
NM_006904.6(PRKDC):c.1645G>A (p.Ala549Thr)
NM_006904.6(PRKDC):c.1676G>C (p.Ser559Thr) rs1038089558
NM_006904.6(PRKDC):c.1762G>A (p.Val588Ile)
NM_006904.6(PRKDC):c.179C>A (p.Ser60Tyr)
NM_006904.6(PRKDC):c.17C>T (p.Ala6Val)
NM_006904.6(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511
NM_006904.6(PRKDC):c.1968A>C (p.Gln656His)
NM_006904.6(PRKDC):c.2112T>A (p.Phe704Leu) rs1000728174
NM_006904.6(PRKDC):c.2143G>A (p.Ala715Thr)
NM_006904.6(PRKDC):c.2245G>A (p.Val749Ile)
NM_006904.6(PRKDC):c.2249C>T (p.Pro750Leu)
NM_006904.6(PRKDC):c.2259+6C>T
NM_006904.6(PRKDC):c.2291C>T (p.Pro764Leu)
NM_006904.6(PRKDC):c.234T>C (p.Phe78=)
NM_006904.6(PRKDC):c.2495A>G (p.Lys832Arg)
NM_006904.6(PRKDC):c.2551A>C (p.Ile851Leu) rs1563801578
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.2840A>T (p.Gln947Leu)
NM_006904.6(PRKDC):c.2935-3C>T
NM_006904.6(PRKDC):c.3101G>A (p.Arg1034Gln) rs200669578
NM_006904.6(PRKDC):c.3148_3150del (p.Glu1050del) rs778725742
NM_006904.6(PRKDC):c.3368C>T (p.Thr1123Ile) rs1563792638
NM_006904.6(PRKDC):c.3547T>C (p.Cys1183Arg)
NM_006904.6(PRKDC):c.3574T>C (p.Tyr1192His)
NM_006904.6(PRKDC):c.3668C>T (p.Thr1223Ile)
NM_006904.6(PRKDC):c.3698C>T (p.Ser1233Leu)
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006904.6(PRKDC):c.37C>G (p.Leu13Val) rs761140462
NM_006904.6(PRKDC):c.3820A>G (p.Arg1274Gly)
NM_006904.6(PRKDC):c.3821G>T (p.Arg1274Ile)
NM_006904.6(PRKDC):c.3921A>G (p.Ile1307Met)
NM_006904.6(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897
NM_006904.6(PRKDC):c.4052C>G (p.Thr1351Ser)
NM_006904.6(PRKDC):c.4059G>A (p.Pro1353=) rs762998738
NM_006904.6(PRKDC):c.4078_4080AAG[1] (p.Lys1361del)
NM_006904.6(PRKDC):c.4108A>G (p.Arg1370Gly)
NM_006904.6(PRKDC):c.4124C>T (p.Thr1375Met)
NM_006904.6(PRKDC):c.4138G>A (p.Ala1380Thr) rs56209904
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.4271C>T (p.Thr1424Ile) rs1482599945
NM_006904.6(PRKDC):c.4375C>T (p.His1459Tyr) rs199524714
NM_006904.6(PRKDC):c.4394A>G (p.His1465Arg)
NM_006904.6(PRKDC):c.4413+7A>G rs773414458
NM_006904.6(PRKDC):c.4430A>G (p.His1477Arg)
NM_006904.6(PRKDC):c.4573-11_4573-10delinsAC
NM_006904.6(PRKDC):c.4630G>A (p.Gly1544Ser) rs746489977
NM_006904.6(PRKDC):c.4651A>G (p.Ile1551Val) rs1563785241
NM_006904.6(PRKDC):c.4664A>G (p.His1555Arg)
NM_006904.6(PRKDC):c.4762G>A (p.Asp1588Asn)
NM_006904.6(PRKDC):c.4774A>G (p.Met1592Val) rs368553930
NM_006904.6(PRKDC):c.4786G>A (p.Val1596Ile)
NM_006904.6(PRKDC):c.4829A>C (p.Asn1610Thr)
NM_006904.6(PRKDC):c.4856C>G (p.Ala1619Gly)
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.496dup (p.Ile166fs)
NM_006904.6(PRKDC):c.5026A>G (p.Ile1676Val)
NM_006904.6(PRKDC):c.5321T>G (p.Met1774Arg)
NM_006904.6(PRKDC):c.5356G>A (p.Ala1786Thr)
NM_006904.6(PRKDC):c.5363+2T>C rs1563780267
NM_006904.6(PRKDC):c.5527A>G (p.Ile1843Val)
NM_006904.6(PRKDC):c.5571+5C>T rs780022870
NM_006904.6(PRKDC):c.5572-4G>A rs367584015
NM_006904.6(PRKDC):c.5703T>A (p.His1901Gln) rs1563773425
NM_006904.6(PRKDC):c.5711G>A (p.Cys1904Tyr)
NM_006904.6(PRKDC):c.5818T>C (p.Tyr1940His)
NM_006904.6(PRKDC):c.5845A>G (p.Ile1949Val) rs56083215
NM_006904.6(PRKDC):c.593_618del (p.Arg198fs)
NM_006904.6(PRKDC):c.5957G>A (p.Arg1986His)
NM_006904.6(PRKDC):c.6206G>A (p.Arg2069Gln)
NM_006904.6(PRKDC):c.6215G>A (p.Arg2072Gln)
NM_006904.6(PRKDC):c.6230A>C (p.His2077Pro)
NM_006904.6(PRKDC):c.6268C>T (p.Arg2090Trp) rs375294044
NM_006904.6(PRKDC):c.6325G>A (p.Gly2109Ser)
NM_006904.6(PRKDC):c.6397C>G (p.Leu2133Val)
NM_006904.6(PRKDC):c.6411A>G (p.Ile2137Met)
NM_006904.6(PRKDC):c.6466-9C>T rs752823972
NM_006904.6(PRKDC):c.655G>C (p.Val219Leu)
NM_006904.6(PRKDC):c.6772G>T (p.Glu2258Ter)
NM_006904.6(PRKDC):c.6802A>G (p.Lys2268Glu)
NM_006904.6(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703
NM_006904.6(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085
NM_006904.6(PRKDC):c.7010T>C (p.Leu2337Pro) rs375706148
NM_006904.6(PRKDC):c.7108A>T (p.Ser2370Cys)
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.7455-6A>C
NM_006904.6(PRKDC):c.7600A>G (p.Asn2534Asp)
NM_006904.6(PRKDC):c.7750T>C (p.Cys2584Arg) rs746648336
NM_006904.6(PRKDC):c.7808C>T (p.Thr2603Ile)
NM_006904.6(PRKDC):c.7856G>A (p.Arg2619His)
NM_006904.6(PRKDC):c.7954G>A (p.Gly2652Arg)
NM_006904.6(PRKDC):c.7960A>C (p.Ser2654Arg)
NM_006904.6(PRKDC):c.7997C>T (p.Pro2666Leu)
NM_006904.6(PRKDC):c.8061G>T (p.Arg2687Ser) rs1563758449
NM_006904.6(PRKDC):c.8173C>G (p.Leu2725Val)
NM_006904.6(PRKDC):c.8326C>T (p.Arg2776Trp)
NM_006904.6(PRKDC):c.8357A>G (p.Lys2786Arg)
NM_006904.6(PRKDC):c.8662G>C (p.Val2888Leu)
NM_006904.6(PRKDC):c.8662G>T (p.Val2888Leu)
NM_006904.6(PRKDC):c.8692C>T (p.Leu2898Phe)
NM_006904.6(PRKDC):c.8767T>C (p.Trp2923Arg)
NM_006904.6(PRKDC):c.8784G>A (p.Lys2928=)
NM_006904.6(PRKDC):c.8857A>T (p.Thr2953Ser) rs369402631
NM_006904.6(PRKDC):c.9071C>T (p.Pro3024Leu)
NM_006904.6(PRKDC):c.9292A>G (p.Arg3098Gly)
NM_006904.6(PRKDC):c.9336+4A>G
NM_006904.6(PRKDC):c.9375A>G (p.Arg3125=)
NM_006904.6(PRKDC):c.9442C>G (p.Gln3148Glu)
NM_006904.6(PRKDC):c.9462A>G (p.Gln3154=)
NM_006904.6(PRKDC):c.9514A>G (p.Lys3172Glu)
NM_006904.6(PRKDC):c.9557+4A>C rs140578467
NM_006904.6(PRKDC):c.9558A>T (p.Arg3186=) rs1395770181
NM_006904.6(PRKDC):c.9724A>G (p.Met3242Val)
NM_006904.6(PRKDC):c.9724A>T (p.Met3242Leu)
NM_006904.6(PRKDC):c.9752A>G (p.Asn3251Ser)
NM_006904.6(PRKDC):c.9783G>T (p.Glu3261Asp) rs772972161
NM_006904.6(PRKDC):c.9811G>A (p.Asp3271Asn)
NM_006904.6(PRKDC):c.9845G>A (p.Arg3282His)
NM_206937.2(LIG4):c.-101-181T>C rs1009787521

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