ClinVar Miner

List of variants in gene PRKDC studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 451
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HGVS dbSNP
NC_000008.10:g.(?_48686714)_(48872706_?)dup
NC_000008.11:g.(?_47774153)_(47799410_?)del
NC_000008.11:g.(?_47933000)_(47960146_?)dup
NC_000008.11:g.(?_47953600)_(47960146_?)dup
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) rs760158156
NM_001081640.2(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085
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) rs188295022
NM_006904.6(PRKDC):c.10066G>T (p.Ala3356Ser) rs773570862
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) rs1160174249
NM_006904.6(PRKDC):c.10275C>T (p.Arg3425=) rs1589703906
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.1040G>A (p.Gly347Glu) rs1589807185
NM_006904.6(PRKDC):c.10468G>A (p.Val3490Ile) rs371869259
NM_006904.6(PRKDC):c.10502A>T (p.His3501Leu) rs1489820955
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) rs547696421
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.10759-8C>G rs1589696399
NM_006904.6(PRKDC):c.10904C>G (p.Thr3635Ser) rs189885909
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) rs778630373
NM_006904.6(PRKDC):c.11222G>T (p.Arg3741Leu) rs759518580
NM_006904.6(PRKDC):c.11276G>A (p.Arg3759Gln) rs745385113
NM_006904.6(PRKDC):c.11288G>A (p.Arg3763His) rs771587412
NM_006904.6(PRKDC):c.1133C>T (p.Ala378Val) rs760093098
NM_006904.6(PRKDC):c.11379T>C (p.Val3793=) rs55769154
NM_006904.6(PRKDC):c.11490-1G>A rs1554623754
NM_006904.6(PRKDC):c.11512G>C (p.Glu3838Gln) rs1589689481
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) rs1458221354
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) rs55670423
NM_006904.6(PRKDC):c.11814C>T (p.Ile3938=) rs750761283
NM_006904.6(PRKDC):c.11894G>A (p.Arg3965His) rs762827851
NM_006904.6(PRKDC):c.11920A>G (p.Met3974Val) rs368108772
NM_006904.6(PRKDC):c.11940G>A (p.Met3980Ile) rs557049093
NM_006904.6(PRKDC):c.11944A>G (p.Ser3982Gly) rs374625875
NM_006904.6(PRKDC):c.12026C>A (p.Pro4009His) rs1589688275
NM_006904.6(PRKDC):c.12042+3A>G rs1589688265
NM_006904.6(PRKDC):c.12049G>C (p.Glu4017Gln) rs375321876
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) 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) rs756082781
NM_006904.6(PRKDC):c.1640A>G (p.Asp547Gly) rs1455158671
NM_006904.6(PRKDC):c.1645G>A (p.Ala549Thr) rs879333781
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.1762G>A (p.Val588Ile) rs1374317607
NM_006904.6(PRKDC):c.1777-723dup rs546905091
NM_006904.6(PRKDC):c.179C>A (p.Ser60Tyr) rs1589820799
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.1818A>G (p.Ser606=) rs368804788
NM_006904.6(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511
NM_006904.6(PRKDC):c.1911A>G (p.Lys637=) rs45438803
NM_006904.6(PRKDC):c.1968A>C (p.Gln656His) rs375910031
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) 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 rs559425878
NM_006904.6(PRKDC):c.2291C>T (p.Pro764Leu) rs374576070
NM_006904.6(PRKDC):c.234T>C (p.Phe78=) rs746672297
NM_006904.6(PRKDC):c.2495A>G (p.Lys832Arg) rs1360824795
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) rs762709857
NM_006904.6(PRKDC):c.2934+5G>C rs8178060
NM_006904.6(PRKDC):c.2935-3C>T rs1280900667
NM_006904.6(PRKDC):c.2955G>C (p.Glu985Asp) rs202016860
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.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) rs1563792638
NM_006904.6(PRKDC):c.3547T>C (p.Cys1183Arg) rs1455615092
NM_006904.6(PRKDC):c.3574T>C (p.Tyr1192His) rs370182783
NM_006904.6(PRKDC):c.3668C>T (p.Thr1223Ile) rs756873491
NM_006904.6(PRKDC):c.3698C>T (p.Ser1233Leu) rs575674401
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.3820A>G (p.Arg1274Gly) rs559349334
NM_006904.6(PRKDC):c.3821G>T (p.Arg1274Ile) rs755695539
NM_006904.6(PRKDC):c.3921A>G (p.Ile1307Met) rs1589769486
NM_006904.6(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897
NM_006904.6(PRKDC):c.4052C>G (p.Thr1351Ser) rs1487381864
NM_006904.6(PRKDC):c.4059G>A (p.Pro1353=) rs762998738
NM_006904.6(PRKDC):c.4108A>G (p.Arg1370Gly) rs183449582
NM_006904.6(PRKDC):c.4124C>T (p.Thr1375Met) rs201150235
NM_006904.6(PRKDC):c.4137C>T (p.Pro1379=) rs189680139
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) rs376814572
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.42G>A (p.Arg14=) rs564283387
NM_006904.6(PRKDC):c.4375C>T (p.His1459Tyr) rs199524714
NM_006904.6(PRKDC):c.4394A>G (p.His1465Arg) rs774655889
NM_006904.6(PRKDC):c.4413+7A>G rs773414458
NM_006904.6(PRKDC):c.4430A>G (p.His1477Arg) rs777258009
NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143
NM_006904.6(PRKDC):c.4573-11_4573-10delinsAC rs1589765898
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) rs1563785241
NM_006904.6(PRKDC):c.4664A>G (p.His1555Arg) rs779412405
NM_006904.6(PRKDC):c.4762G>A (p.Asp1588Asn) rs371148497
NM_006904.6(PRKDC):c.4774A>G (p.Met1592Val) rs368553930
NM_006904.6(PRKDC):c.4786G>A (p.Val1596Ile) rs748380564
NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His) rs8178106
NM_006904.6(PRKDC):c.4829A>C (p.Asn1610Thr) rs1589762969
NM_006904.6(PRKDC):c.4856C>G (p.Ala1619Gly) rs56182356
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) rs751280765
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.5321T>G (p.Met1774Arg) rs1589759761
NM_006904.6(PRKDC):c.5356G>A (p.Ala1786Thr) rs1589759729
NM_006904.6(PRKDC):c.5363+2T>C rs1563780267
NM_006904.6(PRKDC):c.5527A>G (p.Ile1843Val) rs573489900
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) rs1589750943
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) rs1589817900
NM_006904.6(PRKDC):c.5957G>A (p.Arg1986His) rs199898990
NM_006904.6(PRKDC):c.6067T>C (p.Ser2023Pro) rs56042895
NM_006904.6(PRKDC):c.6206G>A (p.Arg2069Gln) rs201879882
NM_006904.6(PRKDC):c.6215G>A (p.Arg2072Gln) rs373126381
NM_006904.6(PRKDC):c.6230A>C (p.His2077Pro) rs775809811
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.6338_6340del (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) rs573302015
NM_006904.6(PRKDC):c.6411A>G (p.Ile2137Met) rs192137701
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.655G>C (p.Val219Leu) rs1247432451
NM_006904.6(PRKDC):c.6772G>T (p.Glu2258Ter) rs1589744116
NM_006904.6(PRKDC):c.6802A>G (p.Lys2268Glu) rs1589744087
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.7108A>T (p.Ser2370Cys) rs774264545
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.7455-6A>C rs753597047
NM_006904.6(PRKDC):c.7600A>G (p.Asn2534Asp) rs1589732127
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) rs1450003938
NM_006904.6(PRKDC):c.7833C>T (p.Ala2611=) rs375277772
NM_006904.6(PRKDC):c.7856G>A (p.Arg2619His) rs138740003
NM_006904.6(PRKDC):c.7954G>A (p.Gly2652Arg) rs746861565
NM_006904.6(PRKDC):c.7960A>C (p.Ser2654Arg) rs201377093
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) rs766994936
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) rs1261223784
NM_006904.6(PRKDC):c.8661C>T (p.Pro2887=) rs78163867
NM_006904.6(PRKDC):c.8662G>C (p.Val2888Leu) rs185741285
NM_006904.6(PRKDC):c.8662G>T (p.Val2888Leu) rs185741285
NM_006904.6(PRKDC):c.8685G>A (p.Glu2895=) rs547408689
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.871G>A (p.Val291Met) rs372117480
NM_006904.6(PRKDC):c.8767T>C (p.Trp2923Arg) rs1589724169
NM_006904.6(PRKDC):c.8784G>A (p.Lys2928=) rs202100944
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) rs201186757
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) rs377579402
NM_006904.6(PRKDC):c.9336+4A>G rs760400696
NM_006904.6(PRKDC):c.9375A>G (p.Arg3125=) rs767064513
NM_006904.6(PRKDC):c.9442C>G (p.Gln3148Glu) rs373275113
NM_006904.6(PRKDC):c.9446G>A (p.Gly3149Asp) rs8178208
NM_006904.6(PRKDC):c.9462A>G (p.Gln3154=) rs772348033
NM_006904.6(PRKDC):c.9514A>G (p.Lys3172Glu) rs1283749735
NM_006904.6(PRKDC):c.9557+4A>C rs140578467
NM_006904.6(PRKDC):c.9557+8G>A rs8178209
NM_006904.6(PRKDC):c.9558-8T>C rs138258308
NM_006904.6(PRKDC):c.9558A>T (p.Arg3186=) rs1395770181
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.9724A>G (p.Met3242Val) rs775383563
NM_006904.6(PRKDC):c.9724A>T (p.Met3242Leu) rs775383563
NM_006904.6(PRKDC):c.9752A>G (p.Asn3251Ser) rs199914880
NM_006904.6(PRKDC):c.9783G>T (p.Glu3261Asp) rs772972161
NM_006904.6(PRKDC):c.9811G>A (p.Asp3271Asn) rs780788138
NM_006904.6(PRKDC):c.9845G>A (p.Arg3282His) rs758666662
NM_006904.6(PRKDC):c.9933C>T (p.Asn3311=) rs201592874
NM_006904.6(PRKDC):c.999G>A (p.Met333Ile) rs8178017
NM_006904.7(PRKDC):c.10013C>T (p.Ala3338Val)
NM_006904.7(PRKDC):c.10014G>A (p.Ala3338=) rs56013236
NM_006904.7(PRKDC):c.10111G>A (p.Glu3371Lys)
NM_006904.7(PRKDC):c.10172C>T (p.Ala3391Val)
NM_006904.7(PRKDC):c.10196C>T (p.Pro3399Leu)
NM_006904.7(PRKDC):c.10244C>T (p.Thr3415Met)
NM_006904.7(PRKDC):c.1024A>G (p.Met342Val)
NM_006904.7(PRKDC):c.10264C>G (p.Gln3422Glu)
NM_006904.7(PRKDC):c.10291G>T (p.Ala3431Ser)
NM_006904.7(PRKDC):c.10362A>G (p.Leu3454=) rs376203472
NM_006904.7(PRKDC):c.10421G>A (p.Arg3474Gln)
NM_006904.7(PRKDC):c.10568A>G (p.Asp3523Gly)
NM_006904.7(PRKDC):c.10637C>G (p.Ser3546Cys)
NM_006904.7(PRKDC):c.10667C>T (p.Ala3556Val)
NM_006904.7(PRKDC):c.10786C>T (p.Leu3596=) rs1589696373
NM_006904.7(PRKDC):c.10832A>G (p.Glu3611Gly)
NM_006904.7(PRKDC):c.1103T>C (p.Leu368Pro)
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=) rs8178235
NM_006904.7(PRKDC):c.11106C>T (p.Pro3702=) rs8178236
NM_006904.7(PRKDC):c.11118C>T (p.Asp3706=) rs55660253
NM_006904.7(PRKDC):c.1116G>A (p.Pro372=) rs369975253
NM_006904.7(PRKDC):c.11237G>A (p.Arg3746Lys)
NM_006904.7(PRKDC):c.1123G>C (p.Val375Leu)
NM_006904.7(PRKDC):c.11241A>C (p.Glu3747Asp)
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) rs55789637
NM_006904.7(PRKDC):c.11507C>T (p.Pro3836Leu) rs8178245
NM_006904.7(PRKDC):c.11583C>T (p.Gly3861=) rs202104334
NM_006904.7(PRKDC):c.11653C>T (p.Arg3885Trp)
NM_006904.7(PRKDC):c.11794A>G (p.Met3932Val)
NM_006904.7(PRKDC):c.11911A>G (p.Met3971Val)
NM_006904.7(PRKDC):c.11935C>G (p.Leu3979Val)
NM_006904.7(PRKDC):c.11990T>C (p.Leu3997Pro)
NM_006904.7(PRKDC):c.11998A>G (p.Asn4000Asp)
NM_006904.7(PRKDC):c.11C>T (p.Ser4Phe)
NM_006904.7(PRKDC):c.12106A>C (p.Lys4036Gln)
NM_006904.7(PRKDC):c.12114G>T (p.Trp4038Cys)
NM_006904.7(PRKDC):c.1212C>T (p.Asp404=) rs376199818
NM_006904.7(PRKDC):c.12133T>C (p.Cys4045Arg)
NM_006904.7(PRKDC):c.121G>C (p.Glu41Gln)
NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp)
NM_006904.7(PRKDC):c.1236C>T (p.Ser412=) rs371084198
NM_006904.7(PRKDC):c.12375G>A (p.Glu4125=) rs764708924
NM_006904.7(PRKDC):c.1258G>A (p.Val420Ile)
NM_006904.7(PRKDC):c.1312C>A (p.Leu438Ile)
NM_006904.7(PRKDC):c.1368G>T (p.Val456=) rs781253650
NM_006904.7(PRKDC):c.1497+5A>C
NM_006904.7(PRKDC):c.1537G>A (p.Glu513Lys)
NM_006904.7(PRKDC):c.1539A>G (p.Glu513=) rs182436738
NM_006904.7(PRKDC):c.155-4A>G
NM_006904.7(PRKDC):c.1564C>A (p.Pro522Thr)
NM_006904.7(PRKDC):c.1581C>T (p.Tyr527=) rs551598588
NM_006904.7(PRKDC):c.1582G>A (p.Val528Met)
NM_006904.7(PRKDC):c.1646C>T (p.Ala549Val)
NM_006904.7(PRKDC):c.1693T>C (p.Tyr565His)
NM_006904.7(PRKDC):c.1728T>G (p.Val576=) rs369983299
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=) rs55842323
NM_006904.7(PRKDC):c.1809C>T (p.Ile603=) rs182027303
NM_006904.7(PRKDC):c.1819G>C (p.Asp607His)
NM_006904.7(PRKDC):c.1878G>A (p.Leu626=)
NM_006904.7(PRKDC):c.1960A>G (p.Ile654Val)
NM_006904.7(PRKDC):c.1968A>G (p.Gln656=) rs375910031
NM_006904.7(PRKDC):c.2197C>T (p.Leu733Phe)
NM_006904.7(PRKDC):c.2251G>A (p.Ala751Thr)
NM_006904.7(PRKDC):c.2264C>T (p.Ala755Val)
NM_006904.7(PRKDC):c.2270A>G (p.Lys757Arg)
NM_006904.7(PRKDC):c.2291C>G (p.Pro764Arg)
NM_006904.7(PRKDC):c.231+9A>G rs186234306
NM_006904.7(PRKDC):c.2421T>G (p.Asp807Glu)
NM_006904.7(PRKDC):c.2662A>G (p.Arg888Gly)
NM_006904.7(PRKDC):c.2781+5T>C
NM_006904.7(PRKDC):c.2891G>A (p.Arg964Gln)
NM_006904.7(PRKDC):c.2899C>A (p.Pro967Thr)
NM_006904.7(PRKDC):c.2966T>A (p.Met989Lys)
NM_006904.7(PRKDC):c.2969A>C (p.Gln990Pro)
NM_006904.7(PRKDC):c.3011A>C (p.Gln1004Pro)
NM_006904.7(PRKDC):c.3037A>G (p.Ile1013Val)
NM_006904.7(PRKDC):c.3044A>G (p.Asp1015Gly)
NM_006904.7(PRKDC):c.3052G>A (p.Val1018Met)
NM_006904.7(PRKDC):c.3092G>A (p.Arg1031Gln)
NM_006904.7(PRKDC):c.3281C>T (p.Ser1094Phe)
NM_006904.7(PRKDC):c.3315G>A (p.Val1105=) rs56047668
NM_006904.7(PRKDC):c.3388G>T (p.Ala1130Ser)
NM_006904.7(PRKDC):c.3486_3488del (p.Leu1163del)
NM_006904.7(PRKDC):c.3527G>C (p.Cys1176Ser)
NM_006904.7(PRKDC):c.3542C>G (p.Thr1181Arg)
NM_006904.7(PRKDC):c.3562A>G (p.Ile1188Val)
NM_006904.7(PRKDC):c.3582C>G (p.Phe1194Leu)
NM_006904.7(PRKDC):c.3608C>G (p.Ser1203Cys)
NM_006904.7(PRKDC):c.3782T>C (p.Leu1261Pro)
NM_006904.7(PRKDC):c.3787G>A (p.Ala1263Thr)
NM_006904.7(PRKDC):c.3788C>T (p.Ala1263Val)
NM_006904.7(PRKDC):c.3833C>T (p.Ala1278Val)
NM_006904.7(PRKDC):c.3847+3A>G
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) rs368949953
NM_006904.7(PRKDC):c.3931A>G (p.Lys1311Glu) rs764358542
NM_006904.7(PRKDC):c.3941G>T (p.Gly1314Val) rs8178090
NM_006904.7(PRKDC):c.4072-12_4072-9del rs575629886
NM_006904.7(PRKDC):c.4117G>T (p.Val1373Leu)
NM_006904.7(PRKDC):c.4234A>G (p.Lys1412Glu)
NM_006904.7(PRKDC):c.427C>T (p.Leu143Phe)
NM_006904.7(PRKDC):c.4284T>G (p.Ile1428Met)
NM_006904.7(PRKDC):c.4321G>A (p.Ala1441Thr) rs111724137
NM_006904.7(PRKDC):c.4322C>T (p.Ala1441Val)
NM_006904.7(PRKDC):c.4354G>T (p.Val1452Leu)
NM_006904.7(PRKDC):c.4371G>T (p.Gln1457His)
NM_006904.7(PRKDC):c.4397A>G (p.Asn1466Ser)
NM_006904.7(PRKDC):c.4580G>A (p.Arg1527His)
NM_006904.7(PRKDC):c.4619C>T (p.Thr1540Met)
NM_006904.7(PRKDC):c.4700T>A (p.Ile1567Asn)
NM_006904.7(PRKDC):c.4742A>C (p.Glu1581Ala) rs555783723
NM_006904.7(PRKDC):c.4856C>T (p.Ala1619Val)
NM_006904.7(PRKDC):c.4861A>G (p.Thr1621Ala)
NM_006904.7(PRKDC):c.496dup (p.Ile166fs) rs537061158
NM_006904.7(PRKDC):c.4979C>G (p.Ser1660Cys)
NM_006904.7(PRKDC):c.5030G>C (p.Ser1677Thr)
NM_006904.7(PRKDC):c.5079C>G (p.Val1693=) rs201654601
NM_006904.7(PRKDC):c.508+9C>T rs369634271
NM_006904.7(PRKDC):c.5081C>G (p.Thr1694Ser)
NM_006904.7(PRKDC):c.509-4T>A rs200774352
NM_006904.7(PRKDC):c.5162A>G (p.His1721Arg)
NM_006904.7(PRKDC):c.5235+6T>C
NM_006904.7(PRKDC):c.5428C>T (p.Pro1810Ser)
NM_006904.7(PRKDC):c.5463C>G (p.Asp1821Glu)
NM_006904.7(PRKDC):c.5467T>A (p.Ser1823Thr)
NM_006904.7(PRKDC):c.5533G>A (p.Val1845Met)
NM_006904.7(PRKDC):c.5537A>T (p.Asp1846Val)
NM_006904.7(PRKDC):c.5576A>G (p.Asn1859Ser)
NM_006904.7(PRKDC):c.5694A>G (p.Gln1898=) rs201140159
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=) rs200137917
NM_006904.7(PRKDC):c.5759A>G (p.Tyr1920Cys)
NM_006904.7(PRKDC):c.5761G>A (p.Asp1921Asn)
NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser) rs55835956
NM_006904.7(PRKDC):c.5959C>T (p.Arg1987Cys)
NM_006904.7(PRKDC):c.5977G>C (p.Glu1993Gln)
NM_006904.7(PRKDC):c.6072T>C (p.Tyr2024=) rs544553927
NM_006904.7(PRKDC):c.6284C>T (p.Ala2095Val)
NM_006904.7(PRKDC):c.6303C>G (p.Val2101=) rs769866046
NM_006904.7(PRKDC):c.6314A>G (p.His2105Arg)
NM_006904.7(PRKDC):c.6320G>A (p.Ser2107Asn)
NM_006904.7(PRKDC):c.6327C>A (p.Gly2109=) rs375377444
NM_006904.7(PRKDC):c.6329C>T (p.Pro2110Leu)
NM_006904.7(PRKDC):c.6362A>G (p.Asp2121Gly)
NM_006904.7(PRKDC):c.6370T>A (p.Ser2124Thr)
NM_006904.7(PRKDC):c.6414A>T (p.Val2138=) rs946805909
NM_006904.7(PRKDC):c.6415C>T (p.Pro2139Ser)
NM_006904.7(PRKDC):c.6515C>T (p.Ala2172Val)
NM_006904.7(PRKDC):c.6607A>G (p.Thr2203Ala)
NM_006904.7(PRKDC):c.6706G>C (p.Glu2236Gln)
NM_006904.7(PRKDC):c.6784G>C (p.Gly2262Arg)
NM_006904.7(PRKDC):c.6852C>T (p.Asp2284=) rs200558896
NM_006904.7(PRKDC):c.6917A>G (p.Asn2306Ser)
NM_006904.7(PRKDC):c.7036G>A (p.Ala2346Thr)
NM_006904.7(PRKDC):c.7063A>G (p.Thr2355Ala)
NM_006904.7(PRKDC):c.712A>G (p.Met238Val) rs546088914
NM_006904.7(PRKDC):c.7198G>T (p.Val2400Leu)
NM_006904.7(PRKDC):c.7375G>A (p.Val2459Met)
NM_006904.7(PRKDC):c.7384G>A (p.Val2462Ile)
NM_006904.7(PRKDC):c.7414C>G (p.Gln2472Glu)
NM_006904.7(PRKDC):c.7459C>T (p.Pro2487Ser)
NM_006904.7(PRKDC):c.7465A>G (p.Ser2489Gly)
NM_006904.7(PRKDC):c.7474G>C (p.Asp2492His)
NM_006904.7(PRKDC):c.7635A>T (p.Leu2545Phe)
NM_006904.7(PRKDC):c.7649T>C (p.Ile2550Thr)
NM_006904.7(PRKDC):c.764C>T (p.Ala255Val)
NM_006904.7(PRKDC):c.7652A>T (p.Glu2551Val)
NM_006904.7(PRKDC):c.7694T>A (p.Met2565Lys)
NM_006904.7(PRKDC):c.7793G>A (p.Arg2598Gln)
NM_006904.7(PRKDC):c.7811C>T (p.Pro2604Leu)
NM_006904.7(PRKDC):c.7859C>T (p.Thr2620Ile)
NM_006904.7(PRKDC):c.7882C>T (p.Arg2628Cys)
NM_006904.7(PRKDC):c.7883G>A (p.Arg2628His)
NM_006904.7(PRKDC):c.7892T>A (p.Val2631Glu)
NM_006904.7(PRKDC):c.7925A>G (p.His2642Arg)
NM_006904.7(PRKDC):c.7935A>G (p.Thr2645=) rs767431572
NM_006904.7(PRKDC):c.8148G>A (p.Val2716=)
NM_006904.7(PRKDC):c.8153G>A (p.Gly2718Asp)
NM_006904.7(PRKDC):c.8156C>T (p.Ala2719Val)
NM_006904.7(PRKDC):c.8178A>G (p.Leu2726=) rs369309081
NM_006904.7(PRKDC):c.8258G>A (p.Arg2753Gln)
NM_006904.7(PRKDC):c.8265+5G>C
NM_006904.7(PRKDC):c.8266-10G>A rs187781588
NM_006904.7(PRKDC):c.8268A>C (p.Glu2756Asp)
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=) rs148855050
NM_006904.7(PRKDC):c.8327G>A (p.Arg2776Gln)
NM_006904.7(PRKDC):c.8383C>A (p.Gln2795Lys)
NM_006904.7(PRKDC):c.8407A>G (p.Ile2803Val)
NM_006904.7(PRKDC):c.8420A>T (p.Gln2807Leu)
NM_006904.7(PRKDC):c.8599G>A (p.Ala2867Thr)
NM_006904.7(PRKDC):c.8743C>T (p.Arg2915Cys)
NM_006904.7(PRKDC):c.8882C>A (p.Ala2961Asp)
NM_006904.7(PRKDC):c.8923-7C>G
NM_006904.7(PRKDC):c.9104T>A (p.Phe3035Tyr)
NM_006904.7(PRKDC):c.9137G>A (p.Arg3046His)
NM_006904.7(PRKDC):c.9170C>A (p.Ala3057Asp)
NM_006904.7(PRKDC):c.9487A>G (p.Thr3163Ala)
NM_006904.7(PRKDC):c.9554A>G (p.Asn3185Ser)
NM_006904.7(PRKDC):c.9593C>G (p.Thr3198Ser) rs55793951
NM_006904.7(PRKDC):c.9701G>A (p.Cys3234Tyr)
NM_006904.7(PRKDC):c.9740G>A (p.Arg3247Gln)
NM_006904.7(PRKDC):c.9761T>G (p.Leu3254Arg)
NM_006904.7(PRKDC):c.983C>T (p.Ala328Val)
NM_006904.7(PRKDC):c.991G>A (p.Ala331Thr)
NM_006904.7(PRKDC):c.9932A>G (p.Asn3311Ser)
NM_006904.7(PRKDC):c.9943T>C (p.Tyr3315His)
NM_006904.7(PRKDC):c.9982A>G (p.Ile3328Val)
NM_006904.7(PRKDC):c.9985C>T (p.Leu3329Phe)

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