ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 390
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HGVS dbSNP
NC_000001.10:g.(?_33490023)_(33490188_?)del
NC_000008.10:g.(?_48686714)_(48872706_?)dup
NC_000010.10:g.(?_14977442)_(14978612_?)del
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14981799)_(14987198_?)del
NC_000010.10:g.(?_14987084)_(14987208_?)del
NC_000010.10:g.(?_14987084)_(14996029_?)del
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NC_000010.10:g.(?_14987094)_(14996441_?)del
NC_000020.10:g.(?_43280196)_(43280268_?)del
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr)
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.260T>C (p.Val87Ala) rs778994749
NM_000022.4(ADA):c.298G>A (p.Val100Met)
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.313C>T (p.His105Tyr)
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.362+4A>G
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.422A>C (p.Glu141Ala)
NM_000022.4(ADA):c.479-2del
NM_000022.4(ADA):c.500A>G (p.Glu167Gly)
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.578T>A (p.Leu193His)
NM_000022.4(ADA):c.57C>A (p.Asp19Glu)
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.679-6C>T rs375562913
NM_000022.4(ADA):c.6C>T (p.Ala2=) rs767788896
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
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.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) rs542229902
NM_000022.4(ADA):c.844C>T (p.Arg282Trp)
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
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) rs151077440
NM_000448.2(RAG1):c.1154T>C (p.Ile385Thr)
NM_000448.2(RAG1):c.1180C>T (p.Arg394Trp)
NM_000448.2(RAG1):c.1187G>A (p.Arg396His) rs104894291
NM_000448.2(RAG1):c.1202C>T (p.Ser401Leu) rs1385203770
NM_000448.2(RAG1):c.1210C>T (p.Arg404Trp)
NM_000448.2(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.2(RAG1):c.1256A>G (p.Lys419Arg)
NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) rs199474685
NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.2(RAG1):c.1421G>A (p.Arg474His) rs199474686
NM_000448.2(RAG1):c.1468A>G (p.Thr490Ala)
NM_000448.2(RAG1):c.1559T>C (p.Phe520Ser)
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.191C>T (p.Ala64Val) rs1564988004
NM_000448.2(RAG1):c.2060G>A (p.Ser687Asn)
NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) rs199474676
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.2326C>T (p.Arg776Trp) rs121918572
NM_000448.2(RAG1):c.232C>G (p.Gln78Glu)
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter) rs754502950
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) rs186717025
NM_000448.2(RAG1):c.256_257del (p.Lys86fs) rs772962160
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.2715C>T (p.Cys905=) rs138119069
NM_000448.2(RAG1):c.2774C>T (p.Thr925Met) rs144893101
NM_000448.2(RAG1):c.283G>A (p.Glu95Lys)
NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) rs121918570
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.303G>A (p.Ala101=) rs4151025
NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) rs193922464
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.60C>T (p.His20=) rs138801620
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.983G>A (p.Cys328Tyr) rs121918571
NM_000448.2(RAG1):c.994C>T (p.Arg332Ter)
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.1396C>T (p.Leu466Phe)
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103
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) rs146584017
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.595G>T (p.Glu199Ter) rs748727021
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly) rs149241274
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys)
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly) rs757524729
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile) rs770043960
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg)
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys)
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala)
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.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) rs754829084
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr) rs140602902
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp) rs1033877372
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
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.449dup (p.His151fs)
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val)
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu)
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)
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) rs766699328
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln)
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly)
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.678+5G>T
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala) rs756395955
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)
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_001081640.2(PRKDC):c.10178_10180AGG[2] (p.Glu3395del) rs1563740493
NM_001081640.2(PRKDC):c.2667G>C (p.Glu889Asp) rs200126714
NM_001081640.2(PRKDC):c.4078_4080AAG[1] (p.Lys1361del)
NM_001625.4(AK2):c.199A>G (p.Thr67Ala) rs771799826
NM_001625.4(AK2):c.220-5del rs752085550
NM_001625.4(AK2):c.224G>T (p.Ser75Ile)
NM_001625.4(AK2):c.247A>G (p.Ile83Val) rs184683619
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.504C>T (p.Thr168=) rs61750964
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) rs143825456
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) rs771562640
NM_001625.4(AK2):c.720A>G (p.Ter240=)
NM_001625.4(AK2):c.94G>A (p.Ala32Thr)
NM_005356.5(LCK):c.1016A>G (p.Asn339Ser)
NM_005356.5(LCK):c.134G>A (p.Arg45Gln) rs145088108
NM_005356.5(LCK):c.1382G>A (p.Arg461His)
NM_005356.5(LCK):c.1497G>A (p.Thr499=) rs375587756
NM_005356.5(LCK):c.252G>T (p.Lys84Asn)
NM_005356.5(LCK):c.559G>A (p.Asp187Asn) rs539280346
NM_005356.5(LCK):c.632A>T (p.Asn211Ile) rs766580359
NM_005356.5(LCK):c.803C>T (p.Thr268Met) rs1557585827
NM_005356.5(LCK):c.851C>G (p.Ala284Gly) rs142611772
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) rs757396169
NM_006904.6(PRKDC):c.10042C>T (p.Leu3348Phe) rs748138643
NM_006904.6(PRKDC):c.10054G>A (p.Glu3352Lys)
NM_006904.6(PRKDC):c.10066G>T (p.Ala3356Ser)
NM_006904.6(PRKDC):c.1017G>T (p.Gln339His) rs752727983
NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225
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) rs547696421
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) rs762741199
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) rs771587412
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) rs779943187
NM_006904.6(PRKDC):c.11606C>T (p.Thr3869Met) rs550306617
NM_006904.6(PRKDC):c.11698C>G (p.Leu3900Val) rs201214138
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) rs55670423
NM_006904.6(PRKDC):c.11814C>T (p.Ile3938=) rs750761283
NM_006904.6(PRKDC):c.11894G>A (p.Arg3965His)
NM_006904.6(PRKDC):c.11920A>G (p.Met3974Val) rs368108772
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) rs375321876
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.1337T>A (p.Phe446Tyr) rs534735519
NM_006904.6(PRKDC):c.1525C>T (p.Arg509Cys) rs147314874
NM_006904.6(PRKDC):c.1526G>A (p.Arg509His) rs763089720
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) rs754453280
NM_006904.6(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033
NM_006904.6(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511
NM_006904.6(PRKDC):c.1968A>C (p.Gln656His)
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) rs776400735
NM_006904.6(PRKDC):c.2220C>T (p.Ile740=) rs191477681
NM_006904.6(PRKDC):c.2245G>A (p.Val749Ile) rs771482106
NM_006904.6(PRKDC):c.2249C>T (p.Pro750Leu) rs372660444
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=) rs746672297
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) rs758007075
NM_006904.6(PRKDC):c.2629G>C (p.Asp877His) rs200560953
NM_006904.6(PRKDC):c.2717T>C (p.Phe906Ser) rs868303619
NM_006904.6(PRKDC):c.2801T>C (p.Leu934Ser) rs765339827
NM_006904.6(PRKDC):c.2840A>T (p.Gln947Leu)
NM_006904.6(PRKDC):c.2934+5G>C rs8178060
NM_006904.6(PRKDC):c.2935-3C>T
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) rs370182783
NM_006904.6(PRKDC):c.3668C>T (p.Thr1223Ile)
NM_006904.6(PRKDC):c.3698C>T (p.Ser1233Leu) rs575674401
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.4108A>G (p.Arg1370Gly)
NM_006904.6(PRKDC):c.4124C>T (p.Thr1375Met) rs201150235
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) rs376814572
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) rs748474858
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.5026A>G (p.Ile1676Val)
NM_006904.6(PRKDC):c.5253A>G (p.Glu1751=) rs8178120
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.5703T>A (p.His1901Gln) rs1563773425
NM_006904.6(PRKDC):c.5711G>A (p.Cys1904Tyr)
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) rs780953775
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) rs373126381
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) rs199908344
NM_006904.6(PRKDC):c.6397C>G (p.Leu2133Val) rs573302015
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.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.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.7808C>T (p.Thr2603Ile)
NM_006904.6(PRKDC):c.7856G>A (p.Arg2619His) rs138740003
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) rs779687004
NM_006904.6(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.6(PRKDC):c.8061G>T (p.Arg2687Ser) rs1563758449
NM_006904.6(PRKDC):c.8173C>G (p.Leu2725Val)
NM_006904.6(PRKDC):c.8229T>C (p.Tyr2743=) rs562024708
NM_006904.6(PRKDC):c.8326C>T (p.Arg2776Trp) rs370862896
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) rs746024122
NM_006904.6(PRKDC):c.8695C>T (p.Arg2899Cys) rs4278157
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) rs201186757
NM_006904.6(PRKDC):c.9292A>G (p.Arg3098Gly) rs377579402
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.9693C>A (p.Ile3231=) rs759916434
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) rs758666662
NM_006904.6(PRKDC):c.999G>A (p.Met333Ile) rs8178017
NM_006904.7(PRKDC):c.496dup (p.Ile166fs)

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