NM_000022.4(ADA):c.226C>T (p.Arg76Trp)
|
rs121908736
|
0.00081
|
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)
|
rs35691292
|
0.00032
|
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000022.4(ADA):c.221G>T (p.Gly74Val)
|
rs199422328
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu)
|
rs539590514
|
0.00009
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)
|
rs121908738
|
0.00007
|
NM_000448.3(RAG1):c.1A>G (p.Met1Val)
|
rs200575481
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)
|
rs121908737
|
0.00006
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)
|
rs104894287
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)
|
rs772962160
|
0.00005
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
|
rs193922464
|
0.00004
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)
|
rs764485070
|
0.00004
|
NM_206937.2(LIG4):c.2690C>G (p.Ser897Ter)
|
rs750080610
|
0.00004
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp)
|
rs758288006
|
0.00003
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
NM_000448.3(RAG1):c.2258A>T (p.His753Leu)
|
rs199474687
|
0.00003
|
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)
|
rs754502950
|
0.00003
|
NM_000448.3(RAG1):c.335G>A (p.Arg112His)
|
rs749223640
|
0.00003
|
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)
|
rs193922574
|
0.00003
|
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)
|
rs36001797
|
0.00003
|
NM_001033855.3(DCLRE1C):c.109+1G>T
|
rs143144732
|
0.00003
|
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
|
rs121908156
|
0.00003
|
NM_001625.4(AK2):c.498+1G>A
|
rs777503956
|
0.00003
|
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)
|
rs267606645
|
0.00003
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)
|
rs104894289
|
0.00002
|
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys)
|
rs199474678
|
0.00002
|
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)
|
rs104894284
|
0.00002
|
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)
|
rs199474676
|
0.00002
|
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)
|
rs28933392
|
0.00002
|
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)
|
rs104894286
|
0.00002
|
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)
|
rs149229197
|
0.00002
|
NM_000536.4(RAG2):c.218G>A (p.Arg73His)
|
rs762407838
|
0.00002
|
NM_206937.2(LIG4):c.73C>T (p.Arg25Ter)
|
rs753883369
|
0.00002
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
0.00001
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)
|
rs121908727
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.678+5G>C
|
rs763478578
|
0.00001
|
NM_000022.4(ADA):c.845+1G>C
|
rs766590645
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
NM_000448.3(RAG1):c.1187G>A (p.Arg396His)
|
rs104894291
|
0.00001
|
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)
|
rs750055861
|
0.00001
|
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln)
|
rs199474684
|
0.00001
|
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)
|
rs199474685
|
0.00001
|
NM_000448.3(RAG1):c.1421G>A (p.Arg474His)
|
rs199474686
|
0.00001
|
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)
|
rs104894285
|
0.00001
|
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys)
|
rs199474688
|
0.00001
|
NM_000448.3(RAG1):c.1871G>A (p.Arg624His)
|
rs199474680
|
0.00001
|
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp)
|
rs199776076
|
0.00001
|
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)
|
rs121918572
|
0.00001
|
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)
|
rs121918569
|
0.00001
|
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)
|
rs757797994
|
0.00001
|
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr)
|
rs182385524
|
0.00001
|
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)
|
rs121918570
|
0.00001
|
NM_000448.3(RAG1):c.2981A>G (p.His994Arg)
|
rs775412266
|
0.00001
|
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)
|
rs773929270
|
0.00001
|
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)
|
rs121918571
|
0.00001
|
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)
|
rs902350422
|
0.00001
|
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr)
|
rs768567592
|
0.00001
|
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)
|
rs121918573
|
0.00001
|
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)
|
rs1315729938
|
0.00001
|
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro)
|
rs1064793250
|
0.00001
|
NM_000536.4(RAG2):c.53G>T (p.Gly18Val)
|
rs1851106893
|
0.00001
|
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter)
|
rs748727021
|
0.00001
|
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)
|
rs765298019
|
0.00001
|
NM_000536.4(RAG2):c.859del (p.Cys287fs)
|
rs754975137
|
0.00001
|
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr)
|
rs121908158
|
0.00001
|
NM_001033855.3(DCLRE1C):c.464+1G>A
|
rs1162344514
|
0.00001
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
NM_001625.4(AK2):c.1A>G (p.Met1Val)
|
rs137853206
|
0.00001
|
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)
|
rs104894418
|
0.00001
|
NM_206937.2(LIG4):c.833G>A (p.Arg278His)
|
rs104894421
|
0.00001
|
NM_206937.2(LIG4):c.845A>T (p.His282Leu)
|
rs777008519
|
0.00001
|
GRCh37/hg19 10p13(chr10:14983910-15065646)
|
|
|
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
|
|
|
NC_000001.10:g.(?_33473829)_(33478866_?)del
|
|
|
NC_000001.10:g.(?_33490023)_(33502429_?)del
|
|
|
NC_000010.10:g.(?_14946600)_(14951339_?)del
|
|
|
NC_000010.10:g.(?_14953179)_(14961841_?)del
|
|
|
NC_000010.10:g.(?_14976692)_(14996009_?)del
|
|
|
NC_000010.10:g.(?_14977442)_(14996029_?)del
|
|
|
NC_000010.10:g.(?_14977452)_(14978602_?)del
|
|
|
NC_000010.10:g.(?_14977452)_(14996009_?)del
|
|
|
NC_000010.10:g.(?_14978527)_(14978602_?)del
|
|
|
NC_000010.10:g.(?_14981789)_(14996029_?)del
|
|
|
NC_000010.10:g.(?_14981799)_(14996009_?)del
|
|
|
NC_000010.10:g.(?_14989514)_(14996441_?)del
|
|
|
NC_000010.10:g.(?_14991015)_(14991106_?)del
|
|
|
NC_000010.10:g.(?_14995891)_(14996441_?)del
|
|
|
NC_000010.10:g.14983601_15065700del
|
|
|
NC_000010.11:g.(?_14935443)_(14936613_?)del
|
|
|
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_000011.9:g.(?_36614125)_(36615728_?)del
|
|
|
NC_000013.10:g.(?_108860881)_(108863616_?)del
|
|
|
NC_000013.11:g.(?_108208513)_(108211288_?)del
|
|
|
NC_000020.10:g.(?_43248475)_(43280248_?)del
|
|
|
NC_000020.10:g.(?_43251625)_(43255215_?)del
|
|
|
NC_000020.10:g.(?_43252823)_(43255260_?)del
|
|
|
NC_000020.10:g.(?_43264848)_(43264949_?)del
|
|
|
NC_000020.11:g.(?_44636217)_(44636298_?)del
|
|
|
NC_000020.11:g.(?_44651555)_(44651627_?)del
|
|
|
NC_000020.11:g.44649961_44653216del
|
|
|
NG_007276.1:g.(19287_22502)_(23634_24320)del
|
|
|
NG_007276.1:g.(?_5047)_(19287_22502)del
|
|
|
NG_016269.1:g.(5157_17324)_(17451_20188)del
|
|
|
NM_000022.2(ADA):c.[290A>G;316C>G]
|
|
|
NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)
|
|
|
NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)
|
rs2065317387
|
|
NM_000022.4(ADA):c.1024G>T (p.Glu342Ter)
|
rs2123507871
|
|
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)
|
rs1419063255
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.2T>G (p.Met1Arg)
|
|
|
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.306C>G (p.Tyr102Ter)
|
rs149520391
|
|
NM_000022.4(ADA):c.307del (p.Ser103fs)
|
|
|
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)
|
rs1452483770
|
|
NM_000022.4(ADA):c.33+1G>A
|
rs587776534
|
|
NM_000022.4(ADA):c.33+1G>C
|
rs587776534
|
|
NM_000022.4(ADA):c.33+2_33+104del
|
rs2145366792
|
|
NM_000022.4(ADA):c.337G>T (p.Glu113Ter)
|
rs1275500780
|
|
NM_000022.4(ADA):c.34-11_55del
|
rs1230022655
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.383_404dup (p.Leu137fs)
|
rs1555844616
|
|
NM_000022.4(ADA):c.385G>A (p.Val129Met)
|
rs121908731
|
|
NM_000022.4(ADA):c.394del (p.Ala131_Leu132insTer)
|
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
|
|
|
NM_000022.4(ADA):c.421G>T (p.Glu141Ter)
|
rs1199690825
|
|
NM_000022.4(ADA):c.447del (p.Ser150fs)
|
|
|
NM_000022.4(ADA):c.467G>T (p.Arg156Leu)
|
rs121908722
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
|
|
|
NM_000022.4(ADA):c.49del (p.His17fs)
|
|
|
NM_000022.4(ADA):c.507dup (p.Lys170Ter)
|
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
NM_000022.4(ADA):c.517del (p.Gln173fs)
|
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.532dup (p.Val178fs)
|
rs886041796
|
|
NM_000022.4(ADA):c.577dup (p.Leu193fs)
|
rs759445496
|
|
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)
|
rs1555844395
|
|
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)
|
rs1555844395
|
|
NM_000022.4(ADA):c.645_648dup (p.Glu217fs)
|
rs2065348171
|
|
NM_000022.4(ADA):c.690dup (p.Leu231fs)
|
rs2065346614
|
|
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)
|
rs121908729
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000022.4(ADA):c.705del (p.Leu236fs)
|
rs1225623204
|
|
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.760C>T (p.Gln254Ter)
|
rs2065345592
|
|
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG
|
rs2123516908
|
|
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)
|
rs757796081
|
|
NM_000022.4(ADA):c.7C>T (p.Gln3Ter)
|
rs1057520217
|
|
NM_000022.4(ADA):c.845+2T>C
|
rs2123516572
|
|
NM_000022.4(ADA):c.854dup (p.Asn285fs)
|
rs2123511347
|
|
NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)
|
|
|
NM_000022.4(ADA):c.870C>A (p.Tyr290Ter)
|
rs2065327638
|
|
NM_000022.4(ADA):c.879_898del (p.Thr294fs)
|
rs2065327187
|
|
NM_000022.4(ADA):c.95+1G>A
|
rs778343059
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.970del (p.Arg324fs)
|
rs2065325961
|
|
NM_000022.4(ADA):c.975+1G>A
|
rs2065325898
|
|
NM_000022.4(ADA):c.975+2T>C
|
|
|
NM_000022.4(ADA):c.975+2T>G
|
|
|
NM_000022.4(ADA):c.976-1G>C
|
|
|
NM_000022.4(ADA):c.976-2A>G
|
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|
NM_000022.4(ADA):c.[455T>C;478+6T>C]
|
|
|
NM_000448.2(RAG1):c.[1213A>G;1871G>A]
|
|
|
NM_000448.2(RAG1):c.[1229G>A;1863delG]
|
|
|
NM_000448.2(RAG1):c.[1519C>T;2210G>A]
|
|
|
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
|
|
|
NM_000448.2(RAG1):c.[1871G>A;2182T>C]
|
|
|
NM_000448.2(RAG1):c.[2119G>C;519delT]
|
|
|
NM_000448.3(RAG1):c.1010del (p.Pro337fs)
|
|
|
NM_000448.3(RAG1):c.1096G>T (p.Glu366Ter)
|
|
|
NM_000448.3(RAG1):c.1148_1149del (p.Lys383fs)
|
|
|
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp)
|
rs1590702874
|
|
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln)
|
rs1850805503
|
|
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)
|
rs764981110
|
|
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly)
|
rs104894292
|
|
NM_000448.3(RAG1):c.1297del (p.Val433fs)
|
|
|
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
|
|
|
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg)
|
rs1850812562
|
|
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
|
|
|
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter)
|
rs759401797
|
|
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
|
|
|
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)
|
rs749256215
|
|
NM_000448.3(RAG1):c.1621del (p.Leu541fs)
|
rs1590703275
|
|
NM_000448.3(RAG1):c.1653C>G (p.Tyr551Ter)
|
|
|
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser)
|
rs199474681
|
|
NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter)
|
|
|
NM_000448.3(RAG1):c.1758_1760delinsGAATC (p.Asp587fs)
|
|
|
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter)
|
rs991089005
|
|
NM_000448.3(RAG1):c.1798del (p.Glu600fs)
|
rs2133296385
|
|
NM_000448.3(RAG1):c.1864del (p.Ala622fs)
|
rs1564989455
|
|
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys)
|
rs878853004
|
|
NM_000448.3(RAG1):c.2018_2691delinsGCG (p.Ala673fs)
|
|
|
NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs)
|
|
|
NM_000448.3(RAG1):c.2065G>T (p.Glu689Ter)
|
|
|
NM_000448.3(RAG1):c.206del (p.Ala69fs)
|
|
|
NM_000448.3(RAG1):c.2143del (p.Val715fs)
|
|
|
NM_000448.3(RAG1):c.2196_2197del (p.Leu732_Cys733insTer)
|
|
|
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter)
|
rs1850830824
|
|
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
|
|
|
NM_000448.3(RAG1):c.2228del (p.Asn743fs)
|
|
|
NM_000448.3(RAG1):c.2251del (p.Arg751fs)
|
|
|
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter)
|
rs104894282
|
|
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
|
|
|
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp)
|
rs752020152
|
|
NM_000448.3(RAG1):c.2410del (p.Ala804fs)
|
|
|
NM_000448.3(RAG1):c.2434C>T (p.Gln812Ter)
|
|
|
NM_000448.3(RAG1):c.2449G>T (p.Glu817Ter)
|
|
|
NM_000448.3(RAG1):c.2449del (p.Glu817fs)
|
|
|
NM_000448.3(RAG1):c.2475del (p.Glu827fs)
|
rs2133297611
|
|
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer)
|
rs1850837839
|
|
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
|
|
|
NM_000448.3(RAG1):c.2557_2560dup (p.Gly854fs)
|
|
|
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)
|
|
|
NM_000448.3(RAG1):c.2615T>G (p.Leu872Ter)
|
rs749360497
|
|
NM_000448.3(RAG1):c.2623del (p.Ser875fs)
|
|
|
NM_000448.3(RAG1):c.2627del (p.Glu876fs)
|
|
|
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys)
|
rs104894290
|
|
NM_000448.3(RAG1):c.2736_2737del (p.Tyr912_Ser913delinsTer)
|
rs1317208073
|
|
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter)
|
rs104894283
|
|
NM_000448.3(RAG1):c.2850del (p.Ile950fs)
|
rs2133298263
|
|
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter)
|
rs1850847819
|
|
NM_000448.3(RAG1):c.2882_2891del (p.Ser961fs)
|
rs1195475275
|
|
NM_000448.3(RAG1):c.2903_2907del (p.Asn968fs)
|
|
|
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
|
|
|
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro)
|
rs104894288
|
|
NM_000448.3(RAG1):c.305_312del (p.Ile102fs)
|
|
|
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs)
|
rs1564990390
|
|
NM_000448.3(RAG1):c.336dup (p.Ile113fs)
|
|
|
NM_000448.3(RAG1):c.354del (p.Phe118fs)
|
|
|
NM_000448.3(RAG1):c.360_367del (p.Asp121fs)
|
rs1590701881
|
|
NM_000448.3(RAG1):c.404dup (p.Gly135_Lys136insTer)
|
|
|
NM_000448.3(RAG1):c.519del (p.Glu174fs)
|
rs1241698978
|
|
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
|
|
|
NM_000448.3(RAG1):c.54del (p.Gln19fs)
|
|
|
NM_000448.3(RAG1):c.555del (p.Lys186fs)
|
rs786205615
|
|
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
|
|
|
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter)
|
|
|
NM_000448.3(RAG1):c.659del (p.Gly220fs)
|
|
|
NM_000448.3(RAG1):c.691C>T (p.Gln231Ter)
|
|
|
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
|
|
|
NM_000448.3(RAG1):c.775del (p.Ser259fs)
|
rs878853031
|
|
NM_000448.3(RAG1):c.937del (p.Cys313fs)
|
|
|
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp)
|
rs121918568
|
|
NM_000448.3(RAG1):c.987del (p.Ser330fs)
|
rs1564988767
|
|
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)
|
rs568867325
|
|
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
|
|
|
NM_000536.4(RAG2):c.1024G>T (p.Gly342Ter)
|
|
|
NM_000536.4(RAG2):c.102del (p.Gly35fs)
|
|
|
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)
|
rs1851062418
|
|
NM_000536.4(RAG2):c.1053dup (p.Glu352Ter)
|
rs2133312509
|
|
NM_000536.4(RAG2):c.1104_1321del (p.Thr369fs)
|
|
|
NM_000536.4(RAG2):c.1131del (p.Phe378fs)
|
|
|
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)
|
|
|
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)
|
rs121917897
|
|
NM_000536.4(RAG2):c.1210G>T (p.Glu404Ter)
|
|
|
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)
|
rs121917895
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp)
|
|
|
NM_000536.4(RAG2):c.1275_1278dup (p.Ile427fs)
|
rs1470797202
|
|
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter)
|
rs1440633758
|
|
NM_000536.4(RAG2):c.1329G>C (p.Met443Ile)
|
|
|
NM_000536.4(RAG2):c.1334dup (p.Tyr445Ter)
|
|
|
NM_000536.4(RAG2):c.1348del (p.Asp450fs)
|
|
|
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)
|
rs1564995627
|
|
NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs)
|
rs2133311139
|
|
NM_000536.4(RAG2):c.1403_1406del (p.His468fs)
|
rs786205616
|
|
NM_000536.4(RAG2):c.1441C>G (p.His481Asp)
|
|
|
NM_000536.4(RAG2):c.1442A>G (p.His481Arg)
|
|
|
NM_000536.4(RAG2):c.1491_1506A[6]GCCTCCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCCAATG[1] (p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_000536.4(RAG2):c.171del (p.Lys58fs)
|
|
|
NM_000536.4(RAG2):c.189dup (p.Lys64Ter)
|
|
|
NM_000536.4(RAG2):c.1A>G (p.Met1Val)
|
rs1564997814
|
|
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)
|
rs121918574
|
|
NM_000536.4(RAG2):c.243del (p.Gly82fs)
|
rs1851098227
|
|
NM_000536.4(RAG2):c.272_278del (p.Tyr91fs)
|
|
|
NM_000536.4(RAG2):c.293del (p.Thr98fs)
|
rs1851096223
|
|
NM_000536.4(RAG2):c.358del (p.Val120fs)
|
rs1342428152
|
|
NM_000536.4(RAG2):c.361_364del (p.Thr121fs)
|
|
|
NM_000536.4(RAG2):c.385_389del (p.Leu129fs)
|
rs1164927451
|
|
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
|
|
|
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
|
|
|
NM_000536.4(RAG2):c.47_57del (p.Gln16fs)
|
rs2133316487
|
|
NM_000536.4(RAG2):c.535del (p.Leu179fs)
|
rs2133314424
|
|
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
|
|
|
NM_000536.4(RAG2):c.638dup (p.Asn213fs)
|
rs1851080959
|
|
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)
|
rs121917894
|
|
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro)
|
rs121917894
|
|
NM_000536.4(RAG2):c.724del (p.Leu242fs)
|
rs2133313784
|
|
NM_000536.4(RAG2):c.724dup (p.Leu242fs)
|
rs2133313784
|
|
NM_000536.4(RAG2):c.743del (p.Asn248fs)
|
rs2133313716
|
|
NM_000536.4(RAG2):c.770_771del (p.Ser257fs)
|
rs2133313582
|
|
NM_000536.4(RAG2):c.817_819del (p.Ile273del)
|
rs2133313409
|
|
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser)
|
rs1851074701
|
|
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)
|
rs1851074524
|
|
NM_000536.4(RAG2):c.854T>G (p.Met285Arg)
|
rs121917896
|
|
NM_000536.4(RAG2):c.863del (p.Asn288fs)
|
rs755941834
|
|
NM_000536.4(RAG2):c.895del (p.Ile299fs)
|
rs2133313100
|
|
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
|
|
|
NM_000536.4(RAG2):c.951G>T (p.Trp317Cys)
|
|
|
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter)
|
rs879541124
|
|
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
|
|
|
NM_000536.4(RAG2):c.984del (p.Gly330fs)
|
|
|
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)
|
rs121908159
|
|
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1156+1G>C
|
|
|
NM_001033855.3(DCLRE1C):c.1156+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter)
|
rs1296189593
|
|
NM_001033855.3(DCLRE1C):c.1246_1247insCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAG (p.Phe416fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1248delinsAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAGTA (p.Phe416delinsLeuIleIlePheThrLysCysProSerPheThrTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1259_1266dup (p.Glu423fs)
|
rs755447150
|
|
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)
|
rs1354336544
|
|
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)
|
rs1354336544
|
|
NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1286_1287del (p.Leu429fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter)
|
rs2131778656
|
|
NM_001033855.3(DCLRE1C):c.1313_1317del (p.Ala438fs)
|
rs2131778479
|
|
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)
|
rs753674918
|
|
NM_001033855.3(DCLRE1C):c.1316_1317del (p.Glu439fs)
|
rs1200768694
|
|
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs)
|
rs786200884
|
|
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs)
|
rs2131776743
|
|
NM_001033855.3(DCLRE1C):c.1467G>A (p.Trp489Ter)
|
rs2131776422
|
|
NM_001033855.3(DCLRE1C):c.1467_1468del (p.Trp489_Glu490delinsTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1489_1490insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAATG (p.Asp497delinsAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrThrValLysProArgLeuTyrTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)
|
rs372597855
|
|
NM_001033855.3(DCLRE1C):c.1502_1503dup (p.Glu502fs)
|
rs2131776130
|
|
NM_001033855.3(DCLRE1C):c.1502_1508del (p.Asp501fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1507_1508del (p.Ser503fs)
|
rs2131775994
|
|
NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter)
|
rs1419439468
|
|
NM_001033855.3(DCLRE1C):c.1545dup (p.Ser516fs)
|
rs2131775605
|
|
NM_001033855.3(DCLRE1C):c.1549C>T (p.Gln517Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1558_1559del (p.Lys520fs)
|
rs2131775466
|
|
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1585_1588dup (p.Thr530fs)
|
rs1834776385
|
|
NM_001033855.3(DCLRE1C):c.161+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs)
|
rs767758218
|
|
NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1665_1666del (p.Asp556fs)
|
rs2131774270
|
|
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)
|
rs886037924
|
|
NM_001033855.3(DCLRE1C):c.178_179dup (p.Cys61fs)
|
|
|
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)
|
rs2131108640
|
|
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
|
|
|
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)
|
rs886037925
|
|
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)
|
rs1589136659
|
|
NM_001033855.3(DCLRE1C):c.310_313del
|
rs2130974126
|
|
NM_001033855.3(DCLRE1C):c.318dup (p.Val107fs)
|
|
|
NM_001033855.3(DCLRE1C):c.328del (p.Leu110fs)
|
|
|
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
|
|
|
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
|
|
|
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
|
rs1839957089
|
|
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.362+1G>T
|
rs1564446526
|
|
NM_001033855.3(DCLRE1C):c.362+2T>A
|
|
|
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs)
|
rs1589070600
|
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NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)
|
rs1404214090
|
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NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)
|
rs1839622622
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NM_001033855.3(DCLRE1C):c.484_487dup (p.Tyr163fs)
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NM_001033855.3(DCLRE1C):c.511_512delinsTG (p.Pro171Ter)
|
rs2130943393
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NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)
|
rs1340132582
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NM_001033855.3(DCLRE1C):c.565del (p.Leu189fs)
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NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)
|
rs752655158
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NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)
|
rs121908157
|
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NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs)
|
rs1839558393
|
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NM_001033855.3(DCLRE1C):c.629del (p.Tyr210fs)
|
rs2130938370
|
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NM_001033855.3(DCLRE1C):c.655del (p.Ser220fs)
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NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)
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NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs)
|
rs1407251815
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NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)
|
rs1589050343
|
|
NM_001033855.3(DCLRE1C):c.780+1del
|
rs786205074
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NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)
|
|
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NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter)
|
rs2130853055
|
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NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter)
|
rs1346260747
|
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NM_001033855.3(DCLRE1C):c.822del (p.Thr275fs)
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NM_001033855.3(DCLRE1C):c.917+1G>A
|
rs1564418254
|
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NM_001033855.3(DCLRE1C):c.972+1G>C
|
rs1564414523
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NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)
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NM_001625.4(AK2):c.118del (p.Cys40fs)
|
rs387906581
|
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NM_001625.4(AK2):c.25G>T (p.Glu9Ter)
|
rs267606647
|
|
NM_001625.4(AK2):c.307C>T (p.Arg103Trp)
|
rs267606648
|
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NM_001625.4(AK2):c.330+5G>A
|
rs1569646997
|
|
NM_001625.4(AK2):c.331-1G>A
|
rs1192619329
|
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NM_001625.4(AK2):c.374_375del (p.Val125fs)
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|
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NM_001625.4(AK2):c.409C>T (p.Arg137Ter)
|
rs1476680673
|
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NM_001625.4(AK2):c.453del (p.Tyr152fs)
|
rs1553151177
|
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NM_001625.4(AK2):c.494A>G (p.Asp165Gly)
|
rs267606643
|
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NM_001625.4(AK2):c.523del (p.Arg175fs)
|
rs1553150995
|
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NM_001625.4(AK2):c.545C>A (p.Ala182Asp)
|
rs559947967
|
|
NM_001625.4(AK2):c.597_599dup (p.Tyr200Ter)
|
rs2124279569
|
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NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)
|
|
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NM_001625.4(AK2):c.697A>T (p.Lys233Ter)
|
rs267606646
|
|
NM_001625.4(AK2):c.84dup (p.Gly29fs)
|
rs1640610158
|
|
NM_002872.5(RAC2):c.101C>A (p.Pro34His)
|
rs1927393826
|
|
NM_002872.5(RAC2):c.167G>A (p.Trp56Ter)
|
rs2145824966
|
|
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn)
|
rs74315507
|
|
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)
|
rs1555908409
|
|
NM_002872.5(RAC2):c.275A>C (p.Asn92Thr)
|
rs1927078072
|
|
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro)
|
rs587777335
|
|
NM_005356.5(LCK):c.1126del (p.Thr375_Leu376insTer)
|
|
|
NM_005356.5(LCK):c.1129dup (p.Ser377fs)
|
rs1569967422
|
|
NM_005356.5(LCK):c.115C>T (p.Arg39Ter)
|
|
|
NM_005356.5(LCK):c.1201A>T (p.Lys401Ter)
|
rs1640406042
|
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NM_005356.5(LCK):c.1318C>T (p.Pro440Ser)
|
|
|
NM_005356.5(LCK):c.1393T>C (p.Cys465Arg)
|
|
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NM_005356.5(LCK):c.188-2A>G
|
|
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NM_005356.5(LCK):c.415del (p.Arg139fs)
|
rs1640237880
|
|
NM_005356.5(LCK):c.477del (p.Ala160fs)
|
rs2124355238
|
|
NM_006904.7(PRKDC):c.10721C>T (p.Ala3574Val)
|
rs587777686
|
|
NM_006904.7(PRKDC):c.1777-710dup
|
rs546905091
|
|
NM_006904.7(PRKDC):c.9185T>G (p.Leu3062Arg)
|
rs587777685
|
|
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs)
|
rs886037607
|
|
NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)
|
|
|
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly)
|
rs118204451
|
|
NM_024782.3(NHEJ1):c.177+1_177+3delinsTT
|
rs886037606
|
|
NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg)
|
rs118204452
|
|
NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter)
|
rs1949865586
|
|
NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)
|
|
|
NM_024782.3(NHEJ1):c.530-2A>T
|
rs1064793763
|
|
NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter)
|
rs118204453
|
|
NM_024782.3(NHEJ1):c.546del (p.Glu182fs)
|
|
|
NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)
|
|
|
NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter)
|
rs1553542017
|
|
NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs)
|
rs2106320090
|
|
NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)
|
|
|
NM_024782.3(NHEJ1):c.75del (p.Lys26fs)
|
|
|
NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)
|
|
|
NM_206937.2(LIG4):c.1026del (p.Phe342fs)
|
|
|
NM_206937.2(LIG4):c.1037_1044del (p.Gly346fs)
|
|
|
NM_206937.2(LIG4):c.106dup (p.Ile36fs)
|
|
|
NM_206937.2(LIG4):c.1144_1145del (p.Leu382fs)
|
rs1246940345
|
|
NM_206937.2(LIG4):c.1150_1153del (p.Lys384fs)
|
|
|
NM_206937.2(LIG4):c.1210del (p.Gln404fs)
|
|
|
NM_206937.2(LIG4):c.1243_1244del (p.Val414_Ile415insTer)
|
|
|
NM_206937.2(LIG4):c.1246_1250dup (p.Leu418fs)
|
rs2138974907
|
|
NM_206937.2(LIG4):c.1270_1273del (p.Lys424fs)
|
|
|
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
|
rs772226399
|
|
NM_206937.2(LIG4):c.1289dup (p.Met430fs)
|
|
|
NM_206937.2(LIG4):c.1295AAC[1] (p.Gln433del)
|
rs587776663
|
|
NM_206937.2(LIG4):c.1383del (p.Glu461fs)
|
|
|
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu)
|
rs104894420
|
|
NM_206937.2(LIG4):c.1430del (p.Gly477fs)
|
|
|
NM_206937.2(LIG4):c.1475del (p.Pro492fs)
|
rs767195999
|
|
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs)
|
rs759838407
|
|
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs)
|
rs759838407
|
|
NM_206937.2(LIG4):c.1536_1537delinsTT (p.Met512_Lys513delinsIleTer)
|
|
|
NM_206937.2(LIG4):c.1561A>T (p.Lys521Ter)
|
|
|
NM_206937.2(LIG4):c.1578G>A (p.Trp526Ter)
|
|
|
NM_206937.2(LIG4):c.1583del (p.Pro528fs)
|
|
|
NM_206937.2(LIG4):c.1621G>T (p.Gly541Ter)
|
|
|
NM_206937.2(LIG4):c.1636G>T (p.Glu546Ter)
|
|
|
NM_206937.2(LIG4):c.1642_1643del (p.Tyr548fs)
|
rs1594458526
|
|
NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs)
|
rs759829934
|
|
NM_206937.2(LIG4):c.1748del (p.Lys583fs)
|
|
|
NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs)
|
rs770128720
|
|
NM_206937.2(LIG4):c.1798G>T (p.Glu600Ter)
|
|
|
NM_206937.2(LIG4):c.1870C>T (p.Gln624Ter)
|
|
|
NM_206937.2(LIG4):c.1880dup (p.Arg628fs)
|
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|
NM_206937.2(LIG4):c.1928del (p.His643fs)
|
|
|
NM_206937.2(LIG4):c.1973del (p.Ile658fs)
|
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
|
NM_206937.2(LIG4):c.2135_2136del (p.Ile712fs)
|
rs1566360837
|
|
NM_206937.2(LIG4):c.2175del (p.Trp725fs)
|
rs1286797317
|
|
NM_206937.2(LIG4):c.2190del (p.Phe730fs)
|
|
|
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
|
|
|
NM_206937.2(LIG4):c.2262del (p.Phe754fs)
|
|
|
NM_206937.2(LIG4):c.226G>T (p.Glu76Ter)
|
|
|
NM_206937.2(LIG4):c.22C>T (p.Gln8Ter)
|
|
|
NM_206937.2(LIG4):c.2305dup (p.Thr769fs)
|
rs1878251067
|
|
NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)
|
|
|
NM_206937.2(LIG4):c.2317C>T (p.Gln773Ter)
|
|
|
NM_206937.2(LIG4):c.2326del (p.Glu776fs)
|
|
|
NM_206937.2(LIG4):c.2426_2430del (p.Pro809fs)
|
|
|
NM_206937.2(LIG4):c.2427dup (p.Leu810fs)
|
|
|
NM_206937.2(LIG4):c.250dup (p.Ile84fs)
|
|
|
NM_206937.2(LIG4):c.2585_2586del (p.His862fs)
|
|
|
NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs)
|
rs765317127
|
|
NM_206937.2(LIG4):c.2595del (p.Ile865fs)
|
rs757090161
|
|
NM_206937.2(LIG4):c.2645_2646del (p.Thr881_Phe882insTer)
|
|
|
NM_206937.2(LIG4):c.2653_2654dup (p.Phe886fs)
|
|
|
NM_206937.2(LIG4):c.374_375del (p.Phe125fs)
|
|
|
NM_206937.2(LIG4):c.439del (p.Gln147fs)
|
|
|
NM_206937.2(LIG4):c.482del (p.Ala161fs)
|
|
|
NM_206937.2(LIG4):c.536C>G (p.Ser179Ter)
|
|
|
NM_206937.2(LIG4):c.575del (p.Lys192fs)
|
|
|
NM_206937.2(LIG4):c.597_600del (p.Gln200fs)
|
rs752339466
|
|
NM_206937.2(LIG4):c.613del (p.Ser205fs)
|
rs780879476
|
|
NM_206937.2(LIG4):c.678del (p.Arg226fs)
|
|
|
NM_206937.2(LIG4):c.724_725del (p.Leu242fs)
|
rs2138978299
|
|
NM_206937.2(LIG4):c.757_758del (p.Ile253fs)
|
|
|
NM_206937.2(LIG4):c.799_800del (p.Ser267fs)
|
rs1566366148
|
|
NM_206937.2(LIG4):c.807del (p.Phe268_Tyr269insTer)
|
|
|
NM_206937.2(LIG4):c.832C>G (p.Arg278Gly)
|
rs574912936
|
|
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)
|
|
|
NM_206937.2(LIG4):c.839A>G (p.Gln280Arg)
|
|
|
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)
|
|
|
NM_206937.2(LIG4):c.879_883del (p.Asn294fs)
|
rs751070095
|
|
Single allele
|
|
|