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: 1349
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HGVS dbSNP
ADA, 3.25-KB DEL, ALU-RELATED
ADA, 7-BP INS, IVS8AS
ADA, IVS2DS, G-A, +1
AK2, EX2 DEL
DCLRE1C, EX1-4DEL
DCLRE1C, EX5-6DEL
DCLRE1C, EX5-8DEL
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
NC_000001.11:g.(?_33024422)_(33024587_?)del
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
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NC_000010.11:g.(?_14903611)_(14955432_?)dup
NC_000010.11:g.(?_14935443)_(14936613_?)del
NC_000010.11:g.(?_14939790)_(14954030_?)dup
NC_000010.11:g.(?_14939800)_(14945199_?)del
NC_000010.11:g.(?_14945085)_(14945209_?)del
NC_000010.11:g.(?_14945085)_(14954030_?)del
NC_000010.11:g.(?_14945095)_(14945199_?)del
NC_000010.11:g.(?_14945095)_(14954442_?)del
NC_000010.11:g.14935443_14954030del
NC_000011.10:g.(?_36573285)_(36598102_?)del
NC_000020.11:g.(?_44636217)_(44636298_?)del
NC_000020.11:g.(?_44636217)_(44636298_?)dup
NC_000020.11:g.(?_44651555)_(44651627_?)del
NC_000020.11:g.(?_44651565)_(44651768_?)del
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.3(ADA):c.[780+1G>A];[986C>T]
NM_000022.4(ADA):c.*152C>T rs560858565
NM_000022.4(ADA):c.*162G>A
NM_000022.4(ADA):c.*173G>C rs11906526
NM_000022.4(ADA):c.*174T>A rs886056706
NM_000022.4(ADA):c.*282C>T rs188755077
NM_000022.4(ADA):c.*4C>T
NM_000022.4(ADA):c.-10C>G rs886056709
NM_000022.4(ADA):c.-28G>C
NM_000022.4(ADA):c.-67C>T
NM_000022.4(ADA):c.1008A>G (p.Pro336=) rs762614678
NM_000022.4(ADA):c.1019_1020AG[1] (p.Arg341fs)
NM_000022.4(ADA):c.1020G>A (p.Lys340=) rs761572884
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr) rs779530705
NM_000022.4(ADA):c.1054G>A (p.Gly352Arg)
NM_000022.4(ADA):c.1065T>C (p.Pro355=) rs371814756
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.1079-7C>T rs551934402
NM_000022.4(ADA):c.108C>T (p.Ile36=) rs748611869
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer) rs1555843039
NM_000022.4(ADA):c.110C>T (p.Ala37Val) rs151336936
NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
NM_000022.4(ADA):c.144C>T (p.Asn48=) rs189751145
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646
NM_000022.4(ADA):c.218+1G>A rs528390681
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.218+2dup rs1555845122
NM_000022.4(ADA):c.219-1G>A rs751147673
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695
NM_000022.4(ADA):c.220G>T (p.Gly74Cys) rs121908730
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.224G>A (p.Cys75Tyr)
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.248C>A (p.Ala83Asp) rs121908726
NM_000022.4(ADA):c.260T>C (p.Val87Ala) rs778994749
NM_000022.4(ADA):c.272C>T (p.Ala91Val)
NM_000022.4(ADA):c.282C>T (p.Gly94=)
NM_000022.4(ADA):c.283G>A (p.Val95Met)
NM_000022.4(ADA):c.298G>A (p.Val100Met) rs1386689344
NM_000022.4(ADA):c.301C>G (p.Arg101Gly)
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.302G>T (p.Arg101Leu) rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.313C>T (p.His105Tyr) rs201522960
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.33+1G>C rs587776534
NM_000022.4(ADA):c.33+3G>A
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894
NM_000022.4(ADA):c.362+4A>G rs370857405
NM_000022.4(ADA):c.367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.36= (p.Val12=) rs394105
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
NM_000022.4(ADA):c.381C>T (p.Asp127=) rs7344760
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) rs1555844616
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.387G>A (p.Val129=) rs1288730009
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882
NM_000022.4(ADA):c.419G>A (p.Gly140Glu) rs121908732
NM_000022.4(ADA):c.422A>C (p.Glu141Ala) rs1600923570
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
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.446G>T (p.Arg149Leu)
NM_000022.4(ADA):c.44A>T (p.His15Leu) rs1209280928
NM_000022.4(ADA):c.452T>C (p.Ile151Thr)
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.467G>T (p.Arg156Leu) rs121908722
NM_000022.4(ADA):c.478+1G>A rs761242509
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.479-2del rs1600921786
NM_000022.4(ADA):c.479-3_479-2del rs1555844457
NM_000022.4(ADA):c.479-9C>T rs761848284
NM_000022.4(ADA):c.500A>G (p.Glu167Gly) rs372671189
NM_000022.4(ADA):c.525G>A (p.Gln175=) rs769506264
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.572G>A (p.Ser191Asn)
NM_000022.4(ADA):c.578T>A (p.Leu193His) rs767083081
NM_000022.4(ADA):c.57C>A (p.Asp19Glu) rs762695968
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.596A>C (p.Gln199Pro) rs121908734
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.608A>C (p.Glu203Ala)
NM_000022.4(ADA):c.618G>T (p.Lys206Asn)
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872
NM_000022.4(ADA):c.621C>T (p.Ser207=) rs373256688
NM_000022.4(ADA):c.622G>A (p.Gly208Ser)
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.639C>T (p.Val213=) rs575603724
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.645C>T (p.Ala215=) rs748671151
NM_000022.4(ADA):c.645_648dup (p.Glu217fs)
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.659C>T (p.Ser220Leu)
NM_000022.4(ADA):c.660G>A (p.Ser220=) rs147038410
NM_000022.4(ADA):c.661G>A (p.Ala221Thr)
NM_000022.4(ADA):c.663C>T (p.Ala221=) rs553639716
NM_000022.4(ADA):c.664G>A (p.Glu222Lys)
NM_000022.4(ADA):c.672A>G (p.Val224=)
NM_000022.4(ADA):c.678+5G>C
NM_000022.4(ADA):c.679-6C>T rs375562913
NM_000022.4(ADA):c.679-8C>T rs886056707
NM_000022.4(ADA):c.688A>C (p.Ile230Leu)
NM_000022.4(ADA):c.690dup (p.Leu231fs)
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
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.705del (p.Leu236fs)
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154
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.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.739G>A (p.Ala247Thr)
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.770T>C (p.Met257Thr)
NM_000022.4(ADA):c.777C>T (p.Phe259=) rs772309012
NM_000022.4(ADA):c.780+7G>A rs371862936
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG rs781605283
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) rs757796081
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
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) rs559798694
NM_000022.4(ADA):c.845+1G>C rs766590645
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.879_898del (p.Thr294fs)
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718
NM_000022.4(ADA):c.899T>G (p.Phe300Cys)
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys)
NM_000022.4(ADA):c.902A>G (p.Lys301Arg)
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.932C>T (p.Thr311Ile)
NM_000022.4(ADA):c.937C>A (p.Arg313=) rs79249850
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.95+9A>G rs765216
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.96-3C>T
NM_000022.4(ADA):c.96-4C>T rs764177495
NM_000022.4(ADA):c.970del (p.Arg324fs)
NM_000022.4(ADA):c.975+8G>A rs192148185
NM_000022.4(ADA):c.[455T>C;478+6T>C]
NM_000215.3(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.3(JAK3):c.3257C>T (p.Pro1086Leu) rs777493612
NM_000448.2(RAG1):c.*1083C>T rs4151040
NM_000448.2(RAG1):c.*1101G>A rs145963034
NM_000448.2(RAG1):c.*1130A>G rs554469239
NM_000448.2(RAG1):c.*1366A>G rs371127461
NM_000448.2(RAG1):c.*1562A>G rs185464049
NM_000448.2(RAG1):c.*1611G>A rs886048262
NM_000448.2(RAG1):c.*1701T>C rs886048263
NM_000448.2(RAG1):c.*1705A>G rs886048264
NM_000448.2(RAG1):c.*200C>T rs886048256
NM_000448.2(RAG1):c.*2211C>T rs538916870
NM_000448.2(RAG1):c.*2246T>C rs4151045
NM_000448.2(RAG1):c.*2289T>G rs200013770
NM_000448.2(RAG1):c.*2308G>A rs766934756
NM_000448.2(RAG1):c.*238G>A rs4151035
NM_000448.2(RAG1):c.*2442G>A rs886048265
NM_000448.2(RAG1):c.*2530G>T rs4151047
NM_000448.2(RAG1):c.*2599A>C rs375155856
NM_000448.2(RAG1):c.*3058A>G rs746468007
NM_000448.2(RAG1):c.*3156A>G rs183729240
NM_000448.2(RAG1):c.*3184G>A rs1056403
NM_000448.2(RAG1):c.*344G>A rs886048257
NM_000448.2(RAG1):c.*370G>T rs569692485
NM_000448.2(RAG1):c.*398G>A rs4151036
NM_000448.2(RAG1):c.*589G>A rs4151038
NM_000448.2(RAG1):c.*739C>T rs4151039
NM_000448.2(RAG1):c.*766A>G rs886048259
NM_000448.2(RAG1):c.-10C>T rs886048251
NM_000448.2(RAG1):c.-114G>A rs872052
NM_000448.2(RAG1):c.-15+12A>G rs190968516
NM_000448.2(RAG1):c.-65A>G rs872053
NM_000448.2(RAG1):c.1012A>C (p.Thr338Pro) rs773326832
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.1077A>G (p.Pro359=) rs886048253
NM_000448.2(RAG1):c.1154T>C (p.Ile385Thr) rs141049427
NM_000448.2(RAG1):c.1178G>T (p.Gly393Val) rs1554944856
NM_000448.2(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
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) rs764981110
NM_000448.2(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.2(RAG1):c.1256A>G (p.Lys419Arg) rs780974569
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.1361T>A (p.Leu454Gln) rs199474677
NM_000448.2(RAG1):c.1367C>A (p.Ala456Asp) rs201779957
NM_000448.2(RAG1):c.1420C>T (p.Arg474Cys) rs199474678
NM_000448.2(RAG1):c.1421G>A (p.Arg474His) rs199474686
NM_000448.2(RAG1):c.1467G>C (p.Arg489Ser) rs1270133689
NM_000448.2(RAG1):c.1468A>G (p.Thr490Ala) rs1590703120
NM_000448.2(RAG1):c.152A>T (p.Asp51Val) rs147486240
NM_000448.2(RAG1):c.1559T>C (p.Phe520Ser) rs1490273597
NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) rs193922461
NM_000448.2(RAG1):c.1573C>T (p.Pro525Ser) rs4151032
NM_000448.2(RAG1):c.1632A>G (p.Leu544=) rs762586430
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.1821C>T (p.Asp607=) rs183806098
NM_000448.2(RAG1):c.189A>G (p.Pro63=) rs34357808
NM_000448.2(RAG1):c.191C>T (p.Ala64Val) rs1564988004
NM_000448.2(RAG1):c.1A>G (p.Met1Val) rs200575481
NM_000448.2(RAG1):c.2060G>A (p.Ser687Asn) rs767579422
NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) rs199474676
NM_000448.2(RAG1):c.2110A>G (p.Ile704Val) rs886048254
NM_000448.2(RAG1):c.2140C>T (p.Leu714Phe) rs1590703656
NM_000448.2(RAG1):c.2204C>T (p.Ala735Val) rs922541917
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) rs759537311
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter) rs754502950
NM_000448.2(RAG1):c.2426A>G (p.Lys809Arg) rs773703055
NM_000448.2(RAG1):c.2442G>T (p.Glu814Asp) rs768860215
NM_000448.2(RAG1):c.2451A>G (p.Glu817=) rs61758791
NM_000448.2(RAG1):c.248C>T (p.Ala83Val) rs1590701723
NM_000448.2(RAG1):c.2500G>T (p.Ala834Ser) rs1215266586
NM_000448.2(RAG1):c.2516A>T (p.His839Leu) rs778785063
NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp) rs104894287
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.2571C>T (p.Ala857=) rs141560248
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.2638G>A (p.Glu880Lys) rs4151033
NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) rs4151034
NM_000448.2(RAG1):c.2689C>T (p.Arg897Ter) rs757797994
NM_000448.2(RAG1):c.2715C>T (p.Cys905=) rs138119069
NM_000448.2(RAG1):c.2751G>A (p.Gln917=) rs150721661
NM_000448.2(RAG1):c.276C>T (p.His92=) rs550985019
NM_000448.2(RAG1):c.2774C>T (p.Thr925Met) rs144893101
NM_000448.2(RAG1):c.2799A>G (p.Gly933=) rs769375583
NM_000448.2(RAG1):c.2825C>T (p.Thr942Ile) rs762625040
NM_000448.2(RAG1):c.283G>A (p.Glu95Lys) rs1343229886
NM_000448.2(RAG1):c.2880A>G (p.Ala960=) rs1980131
NM_000448.2(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) rs121918570
NM_000448.2(RAG1):c.2955T>C (p.Tyr985=) rs139084848
NM_000448.2(RAG1):c.295G>A (p.Gly99Ser) rs138676205
NM_000448.2(RAG1):c.2968G>A (p.Val990Ile) rs886048255
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.322C>T (p.Arg108Ter) rs193922464
NM_000448.2(RAG1):c.335G>A (p.Arg112His) rs749223640
NM_000448.2(RAG1):c.37T>G (p.Ser13Ala) rs760746448
NM_000448.2(RAG1):c.382C>T (p.Pro128Ser) rs886048252
NM_000448.2(RAG1):c.394C>T (p.Pro132Ser) rs773742414
NM_000448.2(RAG1):c.424C>T (p.Arg142Ter) rs773929270
NM_000448.2(RAG1):c.432G>A (p.Lys144=) rs144430517
NM_000448.2(RAG1):c.432G>T (p.Lys144Asn) rs144430517
NM_000448.2(RAG1):c.517A>T (p.Thr173Ser) rs1424812134
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.577G>A (p.Glu193Lys) rs34841221
NM_000448.2(RAG1):c.592A>C (p.Arg198=) rs746425890
NM_000448.2(RAG1):c.60C>T (p.His20=) rs138801620
NM_000448.2(RAG1):c.653G>A (p.Arg218His) rs202178215
NM_000448.2(RAG1):c.725A>G (p.Gln242Arg) rs76897604
NM_000448.2(RAG1):c.739C>T (p.Arg247Cys) rs147203889
NM_000448.2(RAG1):c.746G>A (p.Arg249His) rs3740955
NM_000448.2(RAG1):c.799G>A (p.Ala267Thr) rs148393376
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.94C>G (p.Leu32Val) rs149364682
NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) rs121918571
NM_000448.2(RAG1):c.987del (p.Ser330fs) rs1564988767
NM_000448.2(RAG1):c.994C>T (p.Arg332Ter) rs568867325
NM_000448.2(RAG1):c.997T>C (p.Tyr333His) rs1041695603
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
NM_000448.3(RAG1):c.*1074G>A
NM_000448.3(RAG1):c.*1111G>C
NM_000448.3(RAG1):c.*1124C>T
NM_000448.3(RAG1):c.*1146C>T
NM_000448.3(RAG1):c.*1178G>A
NM_000448.3(RAG1):c.*1277G>A
NM_000448.3(RAG1):c.*1287T>C
NM_000448.3(RAG1):c.*1293G>C
NM_000448.3(RAG1):c.*1307C>T
NM_000448.3(RAG1):c.*1478C>T
NM_000448.3(RAG1):c.*1515T>C
NM_000448.3(RAG1):c.*1539G>A
NM_000448.3(RAG1):c.*1732C>T
NM_000448.3(RAG1):c.*1767A>C
NM_000448.3(RAG1):c.*1978C>T
NM_000448.3(RAG1):c.*2012T>C
NM_000448.3(RAG1):c.*2654A>G
NM_000448.3(RAG1):c.*273G>C
NM_000448.3(RAG1):c.*2828G>A
NM_000448.3(RAG1):c.*3191T>C
NM_000448.3(RAG1):c.*362T>C
NM_000448.3(RAG1):c.*363T>C
NM_000448.3(RAG1):c.*420T>C
NM_000448.3(RAG1):c.*47T>C
NM_000448.3(RAG1):c.*627A>G
NM_000448.3(RAG1):c.*709A>G
NM_000448.3(RAG1):c.1020G>A (p.Leu340=)
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile)
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)
NM_000448.3(RAG1):c.1114T>C (p.Tyr372His)
NM_000448.3(RAG1):c.1160T>C (p.Val387Ala)
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln)
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser)
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp)
NM_000448.3(RAG1):c.1494G>C (p.Gln498His)
NM_000448.3(RAG1):c.1560T>G (p.Phe520Leu)
NM_000448.3(RAG1):c.15C>G (p.Phe5Leu)
NM_000448.3(RAG1):c.1630C>A (p.Leu544Ile)
NM_000448.3(RAG1):c.1637C>T (p.Ser546Phe)
NM_000448.3(RAG1):c.1661A>G (p.Asp554Gly)
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn)
NM_000448.3(RAG1):c.1770G>T (p.Leu590=)
NM_000448.3(RAG1):c.1786G>A (p.Val596Met)
NM_000448.3(RAG1):c.1801T>G (p.Ser601Ala)
NM_000448.3(RAG1):c.1835A>G (p.His612Arg)
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr)
NM_000448.3(RAG1):c.187C>G (p.Pro63Ala)
NM_000448.3(RAG1):c.1907A>G (p.His636Arg)
NM_000448.3(RAG1):c.1981_1983del (p.Met661del)
NM_000448.3(RAG1):c.2009C>T (p.Thr670Met)
NM_000448.3(RAG1):c.2035A>G (p.Ile679Val)
NM_000448.3(RAG1):c.2126G>C (p.Gly709Ala)
NM_000448.3(RAG1):c.2248A>T (p.Thr750Ser)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)
NM_000448.3(RAG1):c.2428A>G (p.Ile810Val)
NM_000448.3(RAG1):c.2444T>C (p.Ile815Thr)
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973
NM_000448.3(RAG1):c.2468A>C (p.Asn823Thr)
NM_000448.3(RAG1):c.2468A>G (p.Asn823Ser)
NM_000448.3(RAG1):c.2487G>T (p.Arg829Ser)
NM_000448.3(RAG1):c.2605G>T (p.Val869Phe)
NM_000448.3(RAG1):c.2753G>A (p.Arg918His)
NM_000448.3(RAG1):c.276C>A (p.His92Gln)
NM_000448.3(RAG1):c.2834A>G (p.His945Arg)
NM_000448.3(RAG1):c.2861G>T (p.Gly954Val)
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter)
NM_000448.3(RAG1):c.2878G>T (p.Ala960Ser)
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys)
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro)
NM_000448.3(RAG1):c.296G>A (p.Gly99Asp)
NM_000448.3(RAG1):c.3025C>T (p.His1009Tyr)
NM_000448.3(RAG1):c.3083C>A (p.Pro1028Gln)
NM_000448.3(RAG1):c.308A>G (p.His103Arg)
NM_000448.3(RAG1):c.3106G>C (p.Glu1036Gln)
NM_000448.3(RAG1):c.319C>T (p.Leu107Phe)
NM_000448.3(RAG1):c.323G>A (p.Arg108Gln)
NM_000448.3(RAG1):c.335G>T (p.Arg112Leu)
NM_000448.3(RAG1):c.354T>A (p.Phe118Leu)
NM_000448.3(RAG1):c.362A>C (p.Asp121Ala)
NM_000448.3(RAG1):c.386T>G (p.Val129Gly)
NM_000448.3(RAG1):c.399G>A (p.Val133=)
NM_000448.3(RAG1):c.425G>A (p.Arg142Gln)
NM_000448.3(RAG1):c.456G>A (p.Pro152=)
NM_000448.3(RAG1):c.470A>G (p.Lys157Arg)
NM_000448.3(RAG1):c.471G>T (p.Lys157Asn)
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu)
NM_000448.3(RAG1):c.506C>T (p.Ser169Leu)
NM_000448.3(RAG1):c.597C>T (p.Asn199=)
NM_000448.3(RAG1):c.625C>A (p.Pro209Thr)
NM_000448.3(RAG1):c.648T>A (p.Thr216=)
NM_000448.3(RAG1):c.656G>A (p.Arg219Gln)
NM_000448.3(RAG1):c.656G>T (p.Arg219Leu)
NM_000448.3(RAG1):c.740G>A (p.Arg247His)
NM_000448.3(RAG1):c.791AGA[1] (p.Lys265del)
NM_000448.3(RAG1):c.800C>G (p.Ala267Gly)
NM_000448.3(RAG1):c.824G>A (p.Ser275Asn)
NM_000448.3(RAG1):c.82T>C (p.Trp28Arg)
NM_000448.3(RAG1):c.831G>A (p.Lys277=)
NM_000448.3(RAG1):c.917C>T (p.Thr306Ile)
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_000536.4(RAG2):c.*136A>C rs763674526
NM_000536.4(RAG2):c.*144G>T rs12280515
NM_000536.4(RAG2):c.*183C>A rs12280564
NM_000536.4(RAG2):c.*227T>C rs113343318
NM_000536.4(RAG2):c.*328A>G rs10836573
NM_000536.4(RAG2):c.*33G>T rs886048270
NM_000536.4(RAG2):c.*348C>G
NM_000536.4(RAG2):c.*522C>G rs886048267
NM_000536.4(RAG2):c.*52T>A rs546979744
NM_000536.4(RAG2):c.*582T>C
NM_000536.4(RAG2):c.*90T>G rs886048268
NM_000536.4(RAG2):c.-137T>C rs73455545
NM_000536.4(RAG2):c.-146G>T
NM_000536.4(RAG2):c.-151A>C rs886048273
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer)
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)
NM_000536.4(RAG2):c.1086C>G (p.Phe362Leu)
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.4(RAG2):c.1120G>C (p.Asp374His)
NM_000536.4(RAG2):c.1131C>T (p.Pro377=) rs777940606
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr)
NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys)
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.1184G>C (p.Gly395Ala)
NM_000536.4(RAG2):c.1185_1187TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly)
NM_000536.4(RAG2):c.1196T>C (p.Phe399Ser)
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926
NM_000536.4(RAG2):c.1209T>C (p.Asn403=)
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile) rs781487639
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575
NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys)
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.140A>T (p.His47Leu) rs776913146
NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg)
NM_000536.4(RAG2):c.141T>G (p.His47Gln) rs768914369
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611
NM_000536.4(RAG2):c.1483C>T (p.Leu495=) rs772985232
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter)
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) rs140089249
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) rs144812762
NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe)
NM_000536.4(RAG2):c.157A>C (p.Asn53His)
NM_000536.4(RAG2):c.174G>A (p.Lys58=)
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.4(RAG2):c.238T>A (p.Phe80Ile)
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg) rs777051349
NM_000536.4(RAG2):c.243del (p.Gly82fs)
NM_000536.4(RAG2):c.265C>T (p.His89Tyr)
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797
NM_000536.4(RAG2):c.293del (p.Thr98fs)
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr) rs146584017
NM_000536.4(RAG2):c.362C>T (p.Thr121Ile)
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817
NM_000536.4(RAG2):c.385_389del (p.Leu129fs)
NM_000536.4(RAG2):c.419A>G (p.His140Arg)
NM_000536.4(RAG2):c.431T>C (p.Val144Ala)
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln)
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100
NM_000536.4(RAG2):c.497A>G (p.His166Arg)
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)
NM_000536.4(RAG2):c.53G>T (p.Gly18Val)
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.638dup (p.Asn213fs)
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser) rs886048272
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser) rs751073669
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser)
NM_000536.4(RAG2):c.718C>T (p.Leu240Phe)
NM_000536.4(RAG2):c.719T>C (p.Leu240Pro)
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser)
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser)
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly) rs149241274
NM_000536.4(RAG2):c.814G>A (p.Val272Ile)
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys) rs772880437
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys)
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp) rs886048271
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_000536.4(RAG2):c.884A>G (p.Asn295Ser)
NM_000536.4(RAG2):c.898C>T (p.Arg300Cys)
NM_000536.4(RAG2):c.899G>A (p.Arg300His) rs138857320
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly) rs757524729
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671
NM_000536.4(RAG2):c.948A>G (p.Ile316Met) rs545910812
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.983T>C (p.Phe328Ser)
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.3(DCLRE1C):c.1024A>G (p.Ile342Val)
NM_001033855.3(DCLRE1C):c.1031T>C (p.Val344Ala)
NM_001033855.3(DCLRE1C):c.1048A>G (p.Lys350Glu)
NM_001033855.3(DCLRE1C):c.1057G>A (p.Glu353Lys)
NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp) rs748164114
NM_001033855.3(DCLRE1C):c.109+1G>T
NM_001033855.3(DCLRE1C):c.1095G>A (p.Thr365=) rs766628291
NM_001033855.3(DCLRE1C):c.110-7T>G rs930637788
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439
NM_001033855.3(DCLRE1C):c.1106A>G (p.Tyr369Cys)
NM_001033855.3(DCLRE1C):c.1195A>G (p.Ile399Val)
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile) rs770043960
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=) rs115081573
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg) rs921819288
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys) rs769948633
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.3(DCLRE1C):c.1379_1381AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys)
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln)
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala) rs1588894157
NM_001033855.3(DCLRE1C):c.1445C>A (p.Ala482Asp)
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681
NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys)
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.3(DCLRE1C):c.1524T>G (p.Pro508=) rs751349938
NM_001033855.3(DCLRE1C):c.1532C>A (p.Thr511Lys)
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1565T>C (p.Phe522Ser)
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569
NM_001033855.3(DCLRE1C):c.162-1G>T
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val)
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln) rs1588892650
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg) rs1588892551
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly) rs1588892169
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp) rs767573884
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769
NM_001033855.3(DCLRE1C):c.1737A>T (p.Arg579Ser)
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=) rs750453725
NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln)
NM_001033855.3(DCLRE1C):c.1764C>T (p.Ala588=) rs1588891334
NM_001033855.3(DCLRE1C):c.1783G>A (p.Val595Ile)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg) rs1589136760
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met) rs751811224
NM_001033855.3(DCLRE1C):c.1865C>T (p.Thr622Ile)
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala)
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys) rs1588890065
NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr)
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205
NM_001033855.3(DCLRE1C):c.1897del (p.Glu633fs)
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys) rs1051813612
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser)
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) rs141357439
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378
NM_001033855.3(DCLRE1C):c.1996C>G (p.His666Asp)
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter) rs1409082603
NM_001033855.3(DCLRE1C):c.2010_2011AT[1] (p.Leu670_Tyr671insTer) rs1564361862
NM_001033855.3(DCLRE1C):c.201_203GTT[2] (p.Leu70del)
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.2053del (p.Arg685fs)
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr)
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala)
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp)
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser)
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
NM_001033855.3(DCLRE1C):c.361A>T (p.Met121Leu)
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773
NM_001033855.3(DCLRE1C):c.375G>A (p.Gln125=) rs150951839
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) rs752159513
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His) rs143949881
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs) rs1589070600
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) rs1279014555
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) rs1589064324
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter) rs1340132582
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849
NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His)
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp) rs1468919857
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln)
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp) rs766699328
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) rs1252776122
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn)
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu)
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs)
NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala)
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=) rs150805064
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.678+5G>T rs750695358
NM_001033855.3(DCLRE1C):c.678+8G>A rs920315432
NM_001033855.3(DCLRE1C):c.679-6C>T rs201040496
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.741A>G (p.Thr247=) rs369844484
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=) rs143042511
NM_001033855.3(DCLRE1C):c.767G>A (p.Cys256Tyr)
NM_001033855.3(DCLRE1C):c.779A>G (p.Lys260Arg)
NM_001033855.3(DCLRE1C):c.780+1G>C
NM_001033855.3(DCLRE1C):c.780+1del rs786205074
NM_001033855.3(DCLRE1C):c.780+6T>G
NM_001033855.3(DCLRE1C):c.789A>G (p.Glu263=) rs149039288
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=) rs181619477
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317
NM_001033855.3(DCLRE1C):c.803G>A (p.Ser268Asn)
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys) rs1589019320
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr) rs748516669
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.925G>C (p.Glu309Gln)
NM_001033855.3(DCLRE1C):c.941C>T (p.Ala314Val)
NM_001033855.3(DCLRE1C):c.945T>C (p.Cys315=) rs747818099
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001033855.3(DCLRE1C):c.967A>T (p.Ser323Cys)
NM_001033855.3(DCLRE1C):c.971A>G (p.Glu324Gly)
NM_001033855.3(DCLRE1C):c.972+1G>C rs1564414523
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) rs760158156
NM_001081640.2(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085
NM_001322050.1(ADA):c.-390G>A rs36216718
NM_001322050.1(ADA):c.-412G>A
NM_001625.4(AK2):c.117C>T (p.Phe39=) rs764509277
NM_001625.4(AK2):c.118del (p.Cys40fs) rs387906581
NM_001625.4(AK2):c.128A>G (p.His43Arg)
NM_001625.4(AK2):c.199A>G (p.Thr67Ala) rs771799826
NM_001625.4(AK2):c.1A>G (p.Met1Val) rs137853206
NM_001625.4(AK2):c.202A>G (p.Met68Val) rs548856916
NM_001625.4(AK2):c.203T>C (p.Met68Thr)
NM_001625.4(AK2):c.220-5del rs752085550
NM_001625.4(AK2):c.224G>T (p.Ser75Ile) rs140838488
NM_001625.4(AK2):c.226G>A (p.Asp76Asn)
NM_001625.4(AK2):c.229G>A (p.Glu77Lys)
NM_001625.4(AK2):c.247A>G (p.Ile83Val) rs184683619
NM_001625.4(AK2):c.255G>A (p.Lys85=) rs41301072
NM_001625.4(AK2):c.25G>A (p.Glu9Lys) rs267606647
NM_001625.4(AK2):c.25G>T (p.Glu9Ter) rs267606647
NM_001625.4(AK2):c.277A>G (p.Lys93Glu) rs767276648
NM_001625.4(AK2):c.284G>A (p.Gly95Asp)
NM_001625.4(AK2):c.307C>A (p.Arg103=) rs267606648
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001625.4(AK2):c.31G>A (p.Glu11Lys)
NM_001625.4(AK2):c.330+5G>A rs1569646997
NM_001625.4(AK2):c.330+8G>C rs781550197
NM_001625.4(AK2):c.331-1G>A rs1192619329
NM_001625.4(AK2):c.336_338del (p.Asp113del)
NM_001625.4(AK2):c.376A>G (p.Ile126Val) rs747116598
NM_001625.4(AK2):c.37C>T (p.Pro13Ser)
NM_001625.4(AK2):c.386G>A (p.Ser129Asn) rs61750965
NM_001625.4(AK2):c.419C>T (p.Thr140Ile) rs192209857
NM_001625.4(AK2):c.433C>G (p.His145Asp)
NM_001625.4(AK2):c.449G>A (p.Arg150His)
NM_001625.4(AK2):c.453del (p.Tyr152fs) rs1553151177
NM_001625.4(AK2):c.457C>G (p.His153Asp) rs1164598375
NM_001625.4(AK2):c.460G>A (p.Glu154Lys) rs148421308
NM_001625.4(AK2):c.462G>T (p.Glu154Asp) rs1569584622
NM_001625.4(AK2):c.470A>G (p.Asn157Ser) rs371672441
NM_001625.4(AK2):c.471C>G (p.Asn157Lys) rs146442876
NM_001625.4(AK2):c.488T>C (p.Met163Thr) rs1017955673
NM_001625.4(AK2):c.494A>G (p.Asp165Gly) rs267606643
NM_001625.4(AK2):c.498+1G>A rs777503956
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419
NM_001625.4(AK2):c.504C>T (p.Thr168=) rs61750964
NM_001625.4(AK2):c.523del (p.Arg175fs) rs1553150995
NM_001625.4(AK2):c.524G>C (p.Arg175Pro)
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) rs267606645
NM_001625.4(AK2):c.55G>A (p.Val19Met) rs761910421
NM_001625.4(AK2):c.571C>G (p.His191Asp) rs80324279
NM_001625.4(AK2):c.597G>A (p.Glu199=) rs150186080
NM_001625.4(AK2):c.603C>T (p.Tyr201=) rs138151595
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440
NM_001625.4(AK2):c.625G>T (p.Ala209Ser) rs12116440
NM_001625.4(AK2):c.630C>T (p.Ile210=) rs746330303
NM_001625.4(AK2):c.631G>A (p.Asp211Asn) rs143825456
NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa) rs1570186429
NM_001625.4(AK2):c.638C>A (p.Ser213Tyr) rs139238739
NM_001625.4(AK2):c.642G>A (p.Gln214=) rs149659319
NM_001625.4(AK2):c.655G>A (p.Val219Met) rs755736918
NM_001625.4(AK2):c.670C>G (p.Leu224Val) rs771562640
NM_001625.4(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_001625.4(AK2):c.720A>G (p.Ter240=) rs375860853
NM_001625.4(AK2):c.94G>A (p.Ala32Thr) rs779260498
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.*26C>G
NM_002312.3(LIG4):c.*26del rs886049948
NM_002312.3(LIG4):c.*285A>G rs748776641
NM_002312.3(LIG4):c.*291A>G
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.*525T>G
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_*602del rs3093770
NM_002312.3(LIG4):c.*614A>C rs3093771
NM_002312.3(LIG4):c.*677A>G rs3093772
NM_002312.3(LIG4):c.*685T>C
NM_002312.3(LIG4):c.*736C>G
NM_002312.3(LIG4):c.*738G>A rs567294082
NM_002312.3(LIG4):c.*781A>G
NM_002312.3(LIG4):c.*826A>T rs116018061
NM_002312.3(LIG4):c.*855_*856insTTTT rs146506306
NM_002312.3(LIG4):c.*857T>C
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.-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.1704T>C (p.Asp568=) rs1805386
NM_002312.3(LIG4):c.26C>T (p.Thr9Ile) rs1805388
NM_005356.5(LCK):c.1016A>G (p.Asn339Ser) rs1258114778
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro) rs587777335
NM_005356.5(LCK):c.1129dup (p.Ser377fs) rs1569967422
NM_005356.5(LCK):c.1190G>C (p.Arg397Thr)
NM_005356.5(LCK):c.1195+4C>T rs142706318
NM_005356.5(LCK):c.1201A>T (p.Lys401Ter)
NM_005356.5(LCK):c.1300G>T (p.Val434Phe)
NM_005356.5(LCK):c.1328-7C>T rs577301476
NM_005356.5(LCK):c.1341G>A (p.Pro447=) rs777215464
NM_005356.5(LCK):c.134G>A (p.Arg45Gln) rs145088108
NM_005356.5(LCK):c.1357C>G (p.Leu453Val)
NM_005356.5(LCK):c.1382G>A (p.Arg461His) rs763148386
NM_005356.5(LCK):c.141A>G (p.Pro47=) rs745339412
NM_005356.5(LCK):c.1497G>A (p.Thr499=) rs375587756
NM_005356.5(LCK):c.160T>G (p.Ser54Ala)
NM_005356.5(LCK):c.161C>G (p.Ser54Cys) rs147431889
NM_005356.5(LCK):c.171G>A (p.Pro57=) rs528967735
NM_005356.5(LCK):c.214T>C (p.Tyr72His)
NM_005356.5(LCK):c.252G>T (p.Lys84Asn) rs1444115742
NM_005356.5(LCK):c.270C>G (p.Ile90Met)
NM_005356.5(LCK):c.279-4G>T
NM_005356.5(LCK):c.281G>A (p.Ser94Asn) rs142674647
NM_005356.5(LCK):c.355G>T (p.Ala119Ser)
NM_005356.5(LCK):c.474C>T (p.Ser158=) rs1569954423
NM_005356.5(LCK):c.523G>A (p.Gly175Arg)
NM_005356.5(LCK):c.528G>A (p.Glu176=) rs139568272
NM_005356.5(LCK):c.559G>A (p.Asp187Asn) rs539280346
NM_005356.5(LCK):c.600C>T (p.Pro200=) rs41264005
NM_005356.5(LCK):c.601G>A (p.Gly201Ser) rs11567841
NM_005356.5(LCK):c.632A>T (p.Asn211Ile) rs766580359
NM_005356.5(LCK):c.653C>T (p.Thr218Ile)
NM_005356.5(LCK):c.785-5C>T rs746656319
NM_005356.5(LCK):c.803C>T (p.Thr268Met) rs1557585827
NM_005356.5(LCK):c.834C>T (p.Gly278=)
NM_005356.5(LCK):c.84C>A (p.Val28=) rs144437329
NM_005356.5(LCK):c.851C>G (p.Ala284Gly) rs142611772
NM_005356.5(LCK):c.888A>G (p.Gln296=) rs35029770
NM_005356.5(LCK):c.896G>A (p.Arg299Gln) rs750936420
NM_005356.5(LCK):c.90G>A (p.Leu30=) rs747453202
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)
NM_013411.4(AK2):c.636_*2601del
NM_206937.2(LIG4):c.*620_*624AATTG[1] rs544474901
NM_206937.2(LIG4):c.-101-181T>C rs1009787521
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) rs535025599
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe) rs144322912
NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu) rs886049949
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser)
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) rs147181971
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752
NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly) rs781102255
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe) rs3742212
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr) rs753492255
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) rs199638675
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) rs529756815
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala) rs137899041
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg)
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) rs769297575
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val) rs200369995
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val) rs188422094
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196
NM_206937.2(LIG4):c.437A>G (p.Gln146Arg) rs754996739
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) rs138021217
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) rs748385144
NM_206937.2(LIG4):c.607A>G (p.Ile203Val) rs778278351
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr)

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