NM_000022.4(ADA):c.36G>A (p.Val12=)
|
rs394105
|
0.98470
|
NM_006904.7(PRKDC):c.1623+6A>G
|
rs1231202
|
0.96352
|
NM_024782.3(NHEJ1):c.390+18G>A
|
rs6436120
|
0.92539
|
NM_000022.4(ADA):c.95+165A>G
|
rs967807
|
0.90213
|
NM_001033855.3(DCLRE1C):c.109+176G>A
|
rs3814176
|
0.64311
|
NM_000448.3(RAG1):c.746= (p.His249=)
|
rs3740955
|
0.51789
|
NM_000448.3(RAG1):c.*3184G>A
|
rs1056403
|
0.48229
|
NM_000448.3(RAG1):c.746A>G (p.His249Arg)
|
rs3740955
|
0.48211
|
NM_000536.4(RAG2):c.*328A>G
|
rs10836573
|
0.48132
|
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=)
|
rs7076862
|
0.42876
|
NM_002872.5(RAC2):c.448+37A>G
|
rs9610682
|
0.41562
|
NM_000022.4(ADA):c.534A>G (p.Val178=)
|
rs244076
|
0.24494
|
NM_002872.5(RAC2):c.477T>C (p.Ala159=)
|
rs1064498
|
0.22300
|
NM_001033855.3(DCLRE1C):c.780+10C>T
|
rs35927251
|
0.17583
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
NM_002872.5(RAC2):c.81C>G (p.Ala27=)
|
rs2239774
|
0.15604
|
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg)
|
rs12768894
|
0.14770
|
NM_206937.2(LIG4):c.1704T>C (p.Asp568=)
|
rs1805386
|
0.13864
|
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr)
|
rs7830743
|
0.13382
|
NM_000022.4(ADA):c.607-48C>T
|
rs929089
|
0.13138
|
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)
|
rs2227973
|
0.12928
|
NM_006904.7(PRKDC):c.8578-18G>T
|
rs4873728
|
0.12075
|
NM_206937.2(LIG4):c.*1035G>A
|
rs10131
|
0.11700
|
NM_138787.4(IFTAP):c.-24+3619A>G
|
rs73455545
|
0.10925
|
NM_206937.2(LIG4):c.*677A>G
|
rs3093772
|
0.09986
|
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)
|
rs35441642
|
0.09351
|
NM_000022.4(ADA):c.780+36G>A
|
rs6031679
|
0.08474
|
NM_001193424.2(SUV39H2):c.850-305C>T
|
rs60006238
|
0.08419
|
NM_000448.3(RAG1):c.*2246T>C
|
rs4151045
|
0.07666
|
NM_000448.3(RAG1):c.2880A>G (p.Ala960=)
|
rs1980131
|
0.07643
|
NM_000448.3(RAG1):c.-65A>G
|
rs872053
|
0.07575
|
NM_000022.4(ADA):c.1078+87A>G
|
rs45567037
|
0.07559
|
NM_000022.4(ADA):c.1078+99C>T
|
rs45567734
|
0.07507
|
NM_000022.4(ADA):c.975+68G>A
|
rs6031678
|
0.07197
|
NM_002872.5(RAC2):c.107+20T>C
|
rs6000622
|
0.06966
|
NM_000022.4(ADA):c.239A>G (p.Lys80Arg)
|
rs11555566
|
0.05947
|
NM_006904.7(PRKDC):c.3731_3732insG (p.Arg1245fs)
|
rs757063670
|
0.05932
|
NM_006904.7(PRKDC):c.2934+5G>C
|
rs8178060
|
0.05686
|
NM_006904.7(PRKDC):c.9922+13C>T
|
rs8178217
|
0.05523
|
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)
|
rs1805389
|
0.04996
|
NM_001033855.3(DCLRE1C):c.781-17C>G
|
rs41298886
|
0.04519
|
NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr)
|
rs34689457
|
0.04477
|
NM_000022.3(ADA):c.-101G>A
|
rs36216718
|
0.04373
|
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)
|
rs73598374
|
0.04175
|
NM_000022.4(ADA):c.390G>A (p.Val130=)
|
rs61737144
|
0.04145
|
NM_006904.7(PRKDC):c.8695C>T (p.Arg2899Cys)
|
rs4278157
|
0.03559
|
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly)
|
rs16929093
|
0.03307
|
NM_000536.4(RAG2):c.*183C>A
|
rs12280564
|
0.03300
|
NM_206937.2(LIG4):c.*1081C>T
|
rs113388531
|
0.03279
|
NM_206937.2(LIG4):c.*826A>T
|
rs116018061
|
0.03278
|
NM_206937.2(LIG4):c.*685T>C
|
rs116798101
|
0.03277
|
NM_206937.2(LIG4):c.*983G>A
|
rs75642465
|
0.03277
|
NM_206937.2(LIG4):c.807C>T (p.Tyr269=)
|
rs2232638
|
0.03276
|
NM_206937.2(LIG4):c.*204A>G
|
rs3093769
|
0.03275
|
NM_206937.2(LIG4):c.*131A>T
|
rs3093768
|
0.03272
|
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr)
|
rs2232642
|
0.03272
|
NM_206937.2(LIG4):c.*562_*563insAAT
|
rs112171260
|
0.03265
|
NM_206937.2(LIG4):c.*855_*856insTTTT
|
rs146506306
|
0.03264
|
NM_206937.2(LIG4):c.-7C>T
|
rs4987182
|
0.03244
|
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile)
|
rs8178017
|
0.03099
|
NM_000536.4(RAG2):c.*144G>T
|
rs12280515
|
0.03006
|
NM_206937.2(LIG4):c.-101-172C>T
|
rs1805387
|
0.02719
|
NM_000448.2(RAG1):c.*3331A>G
|
rs2673017
|
0.02522
|
NM_006904.7(PRKDC):c.1814C>G (p.Thr605Ser)
|
rs8178033
|
0.02513
|
NM_006904.7(PRKDC):c.3759G>A (p.Thr1253=)
|
rs8178087
|
0.02475
|
NM_000448.3(RAG1):c.*2530G>T
|
rs4151047
|
0.02426
|
NM_206937.2(LIG4):c.*129A>G
|
rs3093767
|
0.02174
|
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)
|
rs4151030
|
0.02153
|
NM_001033855.3(DCLRE1C):c.*1287T>C
|
rs41300698
|
0.02114
|
NM_002872.5(RAC2):c.252C>T (p.Leu84=)
|
rs2230919
|
0.02042
|
NM_000536.4(RAG2):c.741G>A (p.Val247=)
|
rs34092949
|
0.01926
|
NM_024782.3(NHEJ1):c.706+7C>A
|
rs6720495
|
0.01756
|
NM_005356.5(LCK):c.378-11G>T
|
rs11576030
|
0.01729
|
NM_206937.2(LIG4):c.*54G>A
|
rs2232643
|
0.01584
|
NM_000448.3(RAG1):c.303G>A (p.Ala101=)
|
rs4151025
|
0.01561
|
NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser)
|
rs8178070
|
0.01542
|
NM_000022.4(ADA):c.36= (p.Val12=)
|
rs394105
|
0.01530
|
NM_000448.3(RAG1):c.189A>G (p.Pro63=)
|
rs34357808
|
0.01436
|
NM_000448.3(RAG1):c.*589G>A
|
rs4151038
|
0.01403
|
NM_000448.3(RAG1):c.*398G>A
|
rs4151036
|
0.01396
|
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)
|
rs4151033
|
0.01395
|
NM_001033855.3(DCLRE1C):c.*975G>A
|
rs116007944
|
0.01257
|
NM_006904.7(PRKDC):c.10211G>A (p.Gly3404Glu)
|
rs8178225
|
0.01254
|
NM_000448.3(RAG1):c.*1978C>T
|
rs4151044
|
0.01228
|
NM_006904.7(PRKDC):c.5088T>G (p.Leu1696=)
|
rs6992074
|
0.01219
|
NM_006904.7(PRKDC):c.2083C>T (p.Pro695Ser)
|
rs8178046
|
0.01166
|
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)
|
rs41298896
|
0.01123
|
NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met)
|
rs8178040
|
0.01119
|
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser)
|
rs8178228
|
0.01084
|
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)
|
rs4151031
|
0.01070
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
NM_005356.5(LCK):c.134G>A (p.Arg45Gln)
|
rs145088108
|
0.01058
|
NM_024782.3(NHEJ1):c.767A>T (p.Gln256Leu)
|
rs35270667
|
0.01058
|
NM_001033855.3(DCLRE1C):c.*1125T>C
|
rs41300692
|
0.01017
|
NM_001033855.3(DCLRE1C):c.*848A>G
|
rs41300684
|
0.01016
|
NM_001033855.3(DCLRE1C):c.*1339G>C
|
rs41300700
|
0.01003
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr)
|
rs41296438
|
0.00869
|
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser)
|
rs8178216
|
0.00825
|
NM_001625.4(AK2):c.625G>A (p.Ala209Thr)
|
rs12116440
|
0.00783
|
NM_206937.2(LIG4):c.513T>C (p.Leu171=)
|
rs3093764
|
0.00779
|
NM_001033855.3(DCLRE1C):c.*752T>C
|
rs41300682
|
0.00758
|
NM_005356.5(LCK):c.888A>G (p.Gln296=)
|
rs35029770
|
0.00693
|
NM_206937.2(LIG4):c.*104C>G
|
rs2232644
|
0.00690
|
NM_006904.7(PRKDC):c.9145C>T (p.Leu3049=)
|
rs56053523
|
0.00669
|
NM_000022.4(ADA):c.834T>C (p.His278=)
|
rs116962828
|
0.00639
|
NM_206937.2(LIG4):c.*3del
|
rs551263548
|
0.00602
|
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys)
|
rs61731910
|
0.00599
|
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=)
|
rs8178249
|
0.00590
|
NM_006904.7(PRKDC):c.10626C>T (p.Phe3542=)
|
rs8178231
|
0.00579
|
NM_000448.3(RAG1):c.251A>G (p.His84Arg)
|
rs150199231
|
0.00550
|
NM_206937.2(LIG4):c.-101-95G>A
|
rs1805385
|
0.00533
|
NM_006904.7(PRKDC):c.8661C>T (p.Pro2887=)
|
rs78163867
|
0.00528
|
NM_206937.2(LIG4):c.915T>C (p.Ser305=)
|
rs2232639
|
0.00524
|
NM_006904.7(PRKDC):c.3042+18C>A
|
rs56169650
|
0.00521
|
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met)
|
rs8178232
|
0.00453
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
0.00441
|
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=)
|
rs45438803
|
0.00412
|
NM_006904.7(PRKDC):c.6480C>T (p.Tyr2160=)
|
rs55991828
|
0.00408
|
NM_002872.5(RAC2):c.449-18G>T
|
rs73889256
|
0.00403
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_006904.7(PRKDC):c.1893-12T>G
|
rs56188476
|
0.00386
|
NM_001625.4(AK2):c.386G>A (p.Ser129Asn)
|
rs61750965
|
0.00379
|
NM_005356.5(LCK):c.161C>G (p.Ser54Cys)
|
rs147431889
|
0.00379
|
NM_006904.7(PRKDC):c.4321G>A (p.Ala1441Thr)
|
rs111724137
|
0.00372
|
NM_006904.7(PRKDC):c.6067T>C (p.Ser2023Pro)
|
rs56042895
|
0.00371
|
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn)
|
rs4151034
|
0.00364
|
NM_006904.7(PRKDC):c.967-10G>T
|
rs186115112
|
0.00359
|
NM_206937.2(LIG4):c.*614A>C
|
rs3093771
|
0.00359
|
NM_001625.4(AK2):c.219+19A>G
|
rs148975919
|
0.00349
|
NM_206937.2(LIG4):c.180C>T (p.Val60=)
|
rs2232637
|
0.00342
|
NM_001625.4(AK2):c.582C>T (p.Thr194=)
|
rs111261425
|
0.00338
|
NM_000448.3(RAG1):c.2751G>A (p.Gln917=)
|
rs150721661
|
0.00334
|
NM_000536.4(RAG2):c.*227T>C
|
rs113343318
|
0.00331
|
NM_001033855.3(DCLRE1C):c.*551G>A
|
rs373280996
|
0.00327
|
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)
|
rs8178208
|
0.00320
|
NM_000022.4(ADA):c.95+9A>G
|
rs765216
|
0.00319
|
NM_000448.3(RAG1):c.*3156A>G
|
rs183729240
|
0.00313
|
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)
|
rs150762709
|
0.00313
|
NM_006904.7(PRKDC):c.3941G>T (p.Gly1314Val)
|
rs8178090
|
0.00313
|
NM_006904.7(PRKDC):c.9557+8G>A
|
rs8178209
|
0.00313
|
NM_206937.2(LIG4):c.-29+15T>G
|
rs183107946
|
0.00310
|
NM_006904.7(PRKDC):c.9217C>T (p.Leu3073Phe)
|
rs55644332
|
0.00292
|
NM_001033855.3(DCLRE1C):c.*792A>C
|
rs191042274
|
0.00283
|
NM_000022.4(ADA):c.162G>A (p.Lys54=)
|
rs45557242
|
0.00282
|
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=)
|
rs41300670
|
0.00272
|
NM_006904.7(PRKDC):c.10759-11T>C
|
rs373043773
|
0.00266
|
NM_000448.3(RAG1):c.*1101G>A
|
rs145963034
|
0.00261
|
NM_000448.3(RAG1):c.-114G>A
|
rs872052
|
0.00259
|
NM_001033855.3(DCLRE1C):c.*1394C>T
|
rs75676336
|
0.00248
|
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=)
|
rs113689741
|
0.00240
|
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys)
|
rs201231274
|
0.00239
|
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)
|
rs202110076
|
0.00235
|
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)
|
rs61749163
|
0.00231
|
NM_006904.7(PRKDC):c.4594C>T (p.Leu1532Phe)
|
rs56387546
|
0.00230
|
NM_000448.3(RAG1):c.2571C>T (p.Ala857=)
|
rs141560248
|
0.00227
|
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=)
|
rs115524993
|
0.00222
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_002872.5(RAC2):c.35+16G>A
|
rs200969255
|
0.00209
|
NM_001625.4(AK2):c.460G>A (p.Glu154Lys)
|
rs148421308
|
0.00208
|
NM_006904.7(PRKDC):c.1338C>A (p.Phe446Leu)
|
rs61729514
|
0.00198
|
NM_006904.7(PRKDC):c.12138C>T (p.Tyr4046=)
|
rs56123237
|
0.00196
|
NM_024782.3(NHEJ1):c.451A>C (p.Arg151=)
|
rs141996352
|
0.00196
|
NM_206937.2(LIG4):c.686A>G (p.His229Arg)
|
rs142957638
|
0.00196
|
NM_001033855.3(DCLRE1C):c.*555A>G
|
rs568873828
|
0.00189
|
NM_005356.5(LCK):c.281G>A (p.Ser94Asn)
|
rs142674647
|
0.00179
|
NM_024782.3(NHEJ1):c.707-7A>T
|
rs150521220
|
0.00170
|
NM_000448.3(RAG1):c.2451A>G (p.Glu817=)
|
rs61758791
|
0.00167
|
NM_006904.7(PRKDC):c.7405T>C (p.Cys2469Arg)
|
rs147514951
|
0.00165
|
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)
|
rs76897604
|
0.00164
|
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=)
|
rs56047668
|
0.00160
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
NM_006904.7(PRKDC):c.9557+4A>C
|
rs140578467
|
0.00151
|
NM_000022.4(ADA):c.110C>T (p.Ala37Val)
|
rs151336936
|
0.00150
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val)
|
rs139113046
|
0.00148
|
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)
|
rs140519815
|
0.00139
|
NM_005356.5(LCK):c.1195+4C>T
|
rs142706318
|
0.00134
|
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)
|
rs138577419
|
0.00133
|
NM_006904.7(PRKDC):c.11106C>T (p.Pro3702=)
|
rs8178236
|
0.00131
|
NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser)
|
rs138936350
|
0.00131
|
NM_000448.3(RAG1):c.*1366A>G
|
rs371127461
|
0.00130
|
NM_000448.3(RAG1):c.*2599A>C
|
rs375155856
|
0.00130
|
NM_000448.3(RAG1):c.*2654A>G
|
rs369536926
|
0.00130
|
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys)
|
rs34841221
|
0.00130
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser)
|
rs55835956
|
0.00124
|
NM_001625.4(AK2):c.597G>A (p.Glu199=)
|
rs150186080
|
0.00123
|
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
|
rs11567841
|
0.00121
|
NM_006904.7(PRKDC):c.9558-8T>C
|
rs138258308
|
0.00120
|
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=)
|
rs148108773
|
0.00113
|
NM_001625.4(AK2):c.255G>A (p.Lys85=)
|
rs41301072
|
0.00111
|
NM_206937.2(LIG4):c.*736C>G
|
rs201529988
|
0.00110
|
NM_006904.7(PRKDC):c.4809G>T (p.Gln1603His)
|
rs8178106
|
0.00109
|
NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=)
|
rs114463099
|
0.00106
|
NM_000448.3(RAG1):c.*238G>A
|
rs4151035
|
0.00105
|
NM_000448.3(RAG1):c.*420T>C
|
rs4151037
|
0.00105
|
NM_006904.7(PRKDC):c.3222G>A (p.Lys1074=)
|
rs183986754
|
0.00105
|
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)
|
rs199731143
|
0.00104
|
NM_001625.4(AK2):c.642G>A (p.Gln214=)
|
rs149659319
|
0.00099
|
NM_001033855.3(DCLRE1C):c.*179G>A
|
rs188107018
|
0.00097
|
NM_000448.3(RAG1):c.*370G>T
|
rs569692485
|
0.00096
|
NM_000448.3(RAG1):c.*739C>T
|
rs4151039
|
0.00095
|
NM_000448.3(RAG1):c.295G>A (p.Gly99Ser)
|
rs138676205
|
0.00093
|
NM_000022.4(ADA):c.*4C>T
|
rs183914222
|
0.00090
|
NM_206937.2(LIG4):c.*34T>G
|
rs369320737
|
0.00087
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_001033855.3(DCLRE1C):c.306+7A>G
|
rs368317341
|
0.00085
|
NM_006904.7(PRKDC):c.8577+17C>T
|
rs184210808
|
0.00084
|
NM_006904.7(PRKDC):c.10297+13T>A
|
rs370676239
|
0.00082
|
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)
|
rs121908736
|
0.00081
|
NM_000448.3(RAG1):c.1578G>A (p.Leu526=)
|
rs143289774
|
0.00081
|
NM_006904.7(PRKDC):c.1539A>G (p.Glu513=)
|
rs182436738
|
0.00081
|
NM_006904.7(PRKDC):c.1728T>G (p.Val576=)
|
rs369983299
|
0.00081
|
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=)
|
rs201592874
|
0.00080
|
NM_000448.3(RAG1):c.*1130A>G
|
rs554469239
|
0.00078
|
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=)
|
rs8178235
|
0.00078
|
NM_024782.3(NHEJ1):c.36A>G (p.Pro12=)
|
rs138515231
|
0.00078
|
NM_000536.4(RAG2):c.*52T>A
|
rs546979744
|
0.00076
|
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=)
|
rs143042511
|
0.00076
|
NM_001033855.3(DCLRE1C):c.*1186T>G
|
rs558392829
|
0.00073
|
NM_006904.7(PRKDC):c.11507C>T (p.Pro3836Leu)
|
rs8178245
|
0.00073
|
NM_001033855.3(DCLRE1C):c.*1215C>T
|
rs532698576
|
0.00072
|
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met)
|
rs41299658
|
0.00071
|
NM_006904.7(PRKDC):c.6342A>G (p.Glu2114=)
|
rs201300612
|
0.00071
|
NM_001033855.3(DCLRE1C):c.*1280C>T
|
rs554974498
|
0.00070
|
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)
|
rs56080897
|
0.00070
|
NM_006904.7(PRKDC):c.6348T>C (p.Asp2116=)
|
rs200510022
|
0.00070
|
NM_206937.2(LIG4):c.285G>A (p.Glu95=)
|
rs150146196
|
0.00069
|
NM_000448.3(RAG1):c.740G>A (p.Arg247His)
|
rs4151029
|
0.00068
|
NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser)
|
rs146861504
|
0.00068
|
NM_002872.5(RAC2):c.501C>T (p.Thr167=)
|
rs79799102
|
0.00067
|
NM_006904.7(PRKDC):c.3101G>A (p.Arg1034Gln)
|
rs200669578
|
0.00067
|
NM_024782.3(NHEJ1):c.242G>A (p.Arg81His)
|
rs140362488
|
0.00066
|
NM_000448.3(RAG1):c.*834dup
|
rs745747958
|
0.00063
|
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu)
|
rs141448396
|
0.00063
|
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr)
|
rs146584017
|
0.00062
|
NM_006904.7(PRKDC):c.6762-19C>G
|
rs144502071
|
0.00062
|
NM_000448.3(RAG1):c.-15+12A>G
|
rs190968516
|
0.00061
|
NM_006904.7(PRKDC):c.11379T>C (p.Val3793=)
|
rs55769154
|
0.00061
|
NM_006904.7(PRKDC):c.9593C>G (p.Thr3198Ser)
|
rs55793951
|
0.00061
|
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)
|
rs191531119
|
0.00059
|
NM_000022.4(ADA):c.606+10G>A
|
rs201045221
|
0.00058
|
NM_000536.4(RAG2):c.1198G>C (p.Asp400His)
|
rs140682926
|
0.00058
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
rs61745540
|
0.00058
|
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val)
|
rs201214138
|
0.00057
|
NM_001033855.3(DCLRE1C):c.*616T>C
|
rs566371862
|
0.00056
|
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val)
|
rs41297016
|
0.00056
|
NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp)
|
rs200126714
|
0.00056
|
NM_006904.7(PRKDC):c.8266-10G>A
|
rs187781588
|
0.00056
|
NM_000022.4(ADA):c.*282C>T
|
rs188755077
|
0.00055
|
NM_001033855.3(DCLRE1C):c.*759T>C
|
rs550717857
|
0.00054
|
NM_001033855.3(DCLRE1C):c.*429C>T
|
rs557496672
|
0.00053
|
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=)
|
rs55789637
|
0.00053
|
NM_206937.2(LIG4):c.1288A>T (p.Met430Leu)
|
rs143618179
|
0.00053
|
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=)
|
rs200137917
|
0.00052
|
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=)
|
rs115421695
|
0.00051
|
NM_006904.7(PRKDC):c.11029C>T (p.Pro3677Ser)
|
rs55924155
|
0.00051
|
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe)
|
rs374403400
|
0.00051
|
NM_006904.7(PRKDC):c.9922+12G>A
|
rs199951054
|
0.00051
|
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val)
|
rs2232641
|
0.00051
|
NM_006904.7(PRKDC):c.11806G>A (p.Gly3936Ser)
|
rs55670423
|
0.00049
|
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu)
|
rs376211703
|
0.00048
|
NM_006904.7(PRKDC):c.7647G>A (p.Lys2549=)
|
rs4425755
|
0.00048
|
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)
|
rs3093765
|
0.00048
|
NM_001625.4(AK2):c.247A>G (p.Ile83Val)
|
rs184683619
|
0.00047
|
NM_024782.3(NHEJ1):c.57A>G (p.Ala19=)
|
rs61757394
|
0.00047
|
NM_002872.5(RAC2):c.226-16C>T
|
rs201500108
|
0.00046
|
NM_006904.7(PRKDC):c.5919+16G>A
|
rs200385490
|
0.00046
|
NM_001625.4(AK2):c.624C>T (p.Ser208=)
|
rs779366586
|
0.00045
|
NM_006904.7(PRKDC):c.399+15A>G
|
rs370171329
|
0.00045
|
NM_006904.7(PRKDC):c.4375C>T (p.His1459Tyr)
|
rs199524714
|
0.00045
|
NM_001033855.3(DCLRE1C):c.537+20C>A
|
rs199843069
|
0.00044
|
NM_006904.7(PRKDC):c.4774A>G (p.Met1592Val)
|
rs368553930
|
0.00044
|
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)
|
rs143590752
|
0.00044
|
NM_006904.7(PRKDC):c.10298-12T>C
|
rs373100184
|
0.00043
|
NM_006904.7(PRKDC):c.5235+10T>A
|
rs8178111
|
0.00043
|
NM_206937.2(LIG4):c.*486A>G
|
rs543340651
|
0.00043
|
NM_206937.2(LIG4):c.2222G>A (p.Arg741His)
|
rs143767581
|
0.00043
|
NM_000448.3(RAG1):c.*1307C>T
|
rs572674156
|
0.00042
|
NM_000022.4(ADA):c.660G>A (p.Ser220=)
|
rs147038410
|
0.00041
|
NM_006904.7(PRKDC):c.3734G>A (p.Arg1245Gln)
|
rs545202367
|
0.00039
|
NM_206937.2(LIG4):c.*525T>G
|
rs563066834
|
0.00039
|
NM_206937.2(LIG4):c.-32C>T
|
rs536441091
|
0.00039
|
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=)
|
rs41300674
|
0.00038
|
NM_000536.4(RAG2):c.477C>T (p.Arg159=)
|
rs141659100
|
0.00037
|
NM_006904.7(PRKDC):c.6291G>A (p.Leu2097=)
|
rs562591745
|
0.00037
|
NM_006904.7(PRKDC):c.6327C>A (p.Gly2109=)
|
rs375377444
|
0.00037
|
NM_206937.2(LIG4):c.1739G>A (p.Arg580Gln)
|
rs146616552
|
0.00037
|
NM_005356.5(LCK):c.528G>A (p.Glu176=)
|
rs139568272
|
0.00036
|
NM_006904.7(PRKDC):c.1818A>G (p.Ser606=)
|
rs368804788
|
0.00036
|
NM_206937.2(LIG4):c.-101-159G>C
|
rs886049950
|
0.00036
|
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg)
|
rs142144659
|
0.00036
|
NM_006904.7(PRKDC):c.5920-16T>G
|
rs369633323
|
0.00035
|
NM_001625.4(AK2):c.603C>T (p.Tyr201=)
|
rs138151595
|
0.00034
|
NM_024782.3(NHEJ1):c.747C>T (p.Ile249=)
|
rs142143860
|
0.00034
|
NM_206937.2(LIG4):c.*738G>A
|
rs567294082
|
0.00034
|
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys)
|
rs778823769
|
0.00033
|
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)
|
rs35691292
|
0.00032
|
NM_001033855.3(DCLRE1C):c.*220del
|
rs886046848
|
0.00032
|
NM_001625.4(AK2):c.224G>T (p.Ser75Ile)
|
rs140838488
|
0.00032
|
NM_006904.7(PRKDC):c.10468G>A (p.Val3490Ile)
|
rs371869259
|
0.00032
|
NM_006904.7(PRKDC):c.11118C>T (p.Asp3706=)
|
rs55660253
|
0.00032
|
NM_206937.2(LIG4):c.*166G>C
|
rs538355612
|
0.00032
|
NM_206937.2(LIG4):c.1983T>C (p.Asp661=)
|
rs199638675
|
0.00032
|
NM_000448.3(RAG1):c.*1124C>T
|
rs756654880
|
0.00031
|
NM_006904.7(PRKDC):c.42G>A (p.Arg14=)
|
rs564283387
|
0.00031
|
NM_000022.4(ADA):c.384G>A (p.Glu128=)
|
rs572092463
|
0.00030
|
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
NM_001033855.3(DCLRE1C):c.*391C>T
|
rs189798814
|
0.00030
|
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=)
|
rs150805064
|
0.00030
|
NM_006904.7(PRKDC):c.10750C>T (p.Leu3584Phe)
|
rs55866966
|
0.00030
|
NM_006904.7(PRKDC):c.11322C>T (p.Ile3774=)
|
rs200445777
|
0.00030
|
NM_006904.7(PRKDC):c.5645C>T (p.Ser1882Phe)
|
rs527362956
|
0.00030
|
NM_000022.4(ADA):c.975+8G>A
|
rs192148185
|
0.00029
|
NM_000536.4(RAG2):c.368G>A (p.Arg123His)
|
rs144012817
|
0.00029
|
NM_002872.5(RAC2):c.507C>T (p.Phe169=)
|
rs150782757
|
0.00029
|
NM_006904.7(PRKDC):c.2629G>C (p.Asp877His)
|
rs200560953
|
0.00029
|
NM_006904.7(PRKDC):c.4856C>G (p.Ala1619Gly)
|
rs56182356
|
0.00029
|
NM_006904.7(PRKDC):c.509-4T>A
|
rs200774352
|
0.00029
|
NM_006904.7(PRKDC):c.8784G>A (p.Lys2928=)
|
rs202100944
|
0.00029
|
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile)
|
rs141357439
|
0.00028
|
NM_001033855.3(DCLRE1C):c.973-1801T>A
|
rs557886549
|
0.00027
|
NM_006904.7(PRKDC):c.5694A>G (p.Gln1898=)
|
rs201140159
|
0.00027
|
NM_001625.4(AK2):c.611G>A (p.Arg204Gln)
|
rs200179721
|
0.00026
|
NM_006904.7(PRKDC):c.4706C>T (p.Thr1569Met)
|
rs374408346
|
0.00026
|
NM_006904.7(PRKDC):c.6329C>T (p.Pro2110Leu)
|
rs191514502
|
0.00026
|
NM_000022.4(ADA):c.770T>C (p.Met257Thr)
|
rs145863450
|
0.00025
|
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly)
|
rs149241274
|
0.00025
|
NM_000448.3(RAG1):c.2774C>T (p.Thr925Met)
|
rs144893101
|
0.00024
|
NM_001033855.3(DCLRE1C):c.*1525A>T
|
rs552656235
|
0.00024
|
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=)
|
rs55842323
|
0.00024
|
NM_006904.7(PRKDC):c.5030G>C (p.Ser1677Thr)
|
rs376474173
|
0.00024
|
NM_006904.7(PRKDC):c.6206G>A (p.Arg2069Gln)
|
rs201879882
|
0.00024
|
NM_024782.3(NHEJ1):c.259G>A (p.Ala87Thr)
|
rs150307533
|
0.00024
|
NM_006904.7(PRKDC):c.231+9A>G
|
rs186234306
|
0.00023
|
NM_006904.7(PRKDC):c.8265+15A>C
|
rs576351266
|
0.00023
|
NM_006904.7(PRKDC):c.9071C>T (p.Pro3024Leu)
|
rs201186757
|
0.00022
|
NM_006904.7(PRKDC):c.9170C>A (p.Ala3057Asp)
|
rs374237444
|
0.00022
|
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln)
|
rs61753339
|
0.00022
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)
|
rs151077440
|
0.00021
|
NM_000448.3(RAG1):c.1821C>T (p.Asp607=)
|
rs183806098
|
0.00021
|
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr)
|
rs151269922
|
0.00021
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
rs144654282
|
0.00021
|
NM_006904.7(PRKDC):c.1212C>T (p.Asp404=)
|
rs376199818
|
0.00021
|
NM_006904.7(PRKDC):c.3270-17T>C
|
rs373351543
|
0.00021
|
NM_006904.7(PRKDC):c.8784-8T>A
|
rs200659591
|
0.00021
|
NM_206937.2(LIG4):c.898G>A (p.Asp300Asn)
|
rs143810759
|
0.00021
|
NM_005356.5(LCK):c.279-16C>T
|
rs554553133
|
0.00020
|
NM_005356.5(LCK):c.851C>G (p.Ala284Gly)
|
rs142611772
|
0.00020
|
NM_006904.7(PRKDC):c.3462G>A (p.Pro1154=)
|
rs368215109
|
0.00020
|
NM_006904.7(PRKDC):c.5754G>A (p.Leu1918=)
|
rs202128544
|
0.00020
|
NM_006904.7(PRKDC):c.7874T>C (p.Leu2625Pro)
|
rs367587480
|
0.00020
|
NM_000022.4(ADA):c.758G>A (p.Arg253Gln)
|
rs148994526
|
0.00019
|
NM_000022.4(ADA):c.930G>A (p.Met310Ile)
|
rs145924854
|
0.00019
|
NM_000448.3(RAG1):c.1154T>C (p.Ile385Thr)
|
rs141049427
|
0.00019
|
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn)
|
rs150790148
|
0.00019
|
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr)
|
rs148380512
|
0.00019
|
NM_000448.3(RAG1):c.653G>A (p.Arg218His)
|
rs202178215
|
0.00019
|
NM_000536.4(RAG2):c.14T>A (p.Met5Lys)
|
rs143415103
|
0.00019
|
NM_001033855.3(DCLRE1C):c.*12G>A
|
rs369509998
|
0.00019
|
NM_001033855.3(DCLRE1C):c.306+14A>G
|
rs571280873
|
0.00019
|
NM_006904.7(PRKDC):c.11579+11T>C
|
rs370366061
|
0.00019
|
NM_006904.7(PRKDC):c.2433T>C (p.Asn811=)
|
rs967068586
|
0.00019
|
NM_006904.7(PRKDC):c.2840A>T (p.Gln947Leu)
|
rs762709857
|
0.00019
|
NM_006904.7(PRKDC):c.3675G>A (p.Glu1225=)
|
rs763655576
|
0.00019
|
NM_006904.7(PRKDC):c.4226C>T (p.Ser1409Phe)
|
rs376814572
|
0.00019
|
NM_006904.7(PRKDC):c.6852C>T (p.Asp2284=)
|
rs200558896
|
0.00019
|
NM_006904.7(PRKDC):c.9445+17G>T
|
rs752448660
|
0.00019
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
NM_006904.7(PRKDC):c.10116+11A>C
|
rs371315933
|
0.00018
|
NM_006904.7(PRKDC):c.11343C>T (p.Cys3781=)
|
rs368860959
|
0.00018
|
NM_006904.7(PRKDC):c.9701G>A (p.Cys3234Tyr)
|
rs200865966
|
0.00018
|
NM_000022.4(ADA):c.780+7G>A
|
rs371862936
|
0.00017
|
NM_000448.3(RAG1):c.1573C>T (p.Pro525Ser)
|
rs4151032
|
0.00017
|
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=)
|
rs41300672
|
0.00017
|
NM_006904.7(PRKDC):c.3000A>G (p.Lys1000=)
|
rs758470097
|
0.00017
|
NM_006904.7(PRKDC):c.318A>G (p.Glu106=)
|
rs536327098
|
0.00017
|
NM_006904.7(PRKDC):c.325-20del
|
rs754532505
|
0.00017
|
NM_000022.3(ADA):c.-123G>A
|
rs997075639
|
0.00016
|
NM_000022.4(ADA):c.219-13C>T
|
rs371326273
|
0.00016
|
NM_000448.3(RAG1):c.2035A>G (p.Ile679Val)
|
rs143227621
|
0.00016
|
NM_000536.4(RAG2):c.1517G>A (p.Arg506His)
|
rs144812762
|
0.00016
|
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)
|
rs147319483
|
0.00016
|
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=)
|
rs115081573
|
0.00016
|
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile)
|
rs750692726
|
0.00016
|
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)
|
rs138077101
|
0.00016
|
NM_005356.5(LCK):c.408C>T (p.Asp136=)
|
rs774750034
|
0.00016
|
NM_006904.7(PRKDC):c.11920A>G (p.Met3974Val)
|
rs368108772
|
0.00016
|
NM_006904.7(PRKDC):c.2220C>T (p.Ile740=)
|
rs191477681
|
0.00016
|
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly)
|
rs368949953
|
0.00016
|
NM_006904.7(PRKDC):c.5236-10T>C
|
rs374612509
|
0.00016
|
NM_006904.7(PRKDC):c.5572-4G>A
|
rs367584015
|
0.00016
|
NM_006904.7(PRKDC):c.5957G>A (p.Arg1986His)
|
rs199898990
|
0.00016
|
NM_006904.7(PRKDC):c.8178A>G (p.Leu2726=)
|
rs369309081
|
0.00016
|
NM_006904.7(PRKDC):c.9752A>G (p.Asn3251Ser)
|
rs199914880
|
0.00016
|
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys)
|
rs140089249
|
0.00015
|
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu)
|
rs575678692
|
0.00015
|
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met)
|
rs147013097
|
0.00015
|
NM_001033855.3(DCLRE1C):c.375G>A (p.Gln125=)
|
rs150951839
|
0.00015
|
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=)
|
rs146832860
|
0.00015
|
NM_001625.4(AK2):c.631G>A (p.Asp211Asn)
|
rs143825456
|
0.00015
|
NM_001625.4(AK2):c.648C>T (p.Pro216=)
|
rs201622956
|
0.00015
|
NM_006904.7(PRKDC):c.10244C>T (p.Thr3415Met)
|
rs370050708
|
0.00015
|
NM_006904.7(PRKDC):c.11583C>T (p.Gly3861=)
|
rs202104334
|
0.00015
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
NM_000022.4(ADA):c.864T>G (p.Ala288=)
|
rs146614184
|
0.00014
|
NM_000448.3(RAG1):c.2527A>G (p.Lys843Glu)
|
rs186717025
|
0.00014
|
NM_000448.3(RAG1):c.2955T>C (p.Tyr985=)
|
rs139084848
|
0.00014
|
NM_000536.4(RAG2):c.899G>A (p.Arg300His)
|
rs138857320
|
0.00014
|
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His)
|
rs376186052
|
0.00014
|
NM_001625.4(AK2):c.333C>T (p.Leu111=)
|
rs200433299
|
0.00014
|
NM_005356.5(LCK):c.600C>T (p.Pro200=)
|
rs41264005
|
0.00014
|
NM_006904.7(PRKDC):c.10014G>A (p.Ala3338=)
|
rs56013236
|
0.00014
|
NM_006904.7(PRKDC):c.11809G>A (p.Val3937Met)
|
rs56090750
|
0.00014
|
NM_006904.7(PRKDC):c.129C>T (p.Val43=)
|
rs373856605
|
0.00014
|
NM_006904.7(PRKDC):c.4342C>T (p.Leu1448=)
|
rs377724738
|
0.00014
|
NM_006904.7(PRKDC):c.5985+17A>G
|
rs374832575
|
0.00014
|
NM_006904.7(PRKDC):c.6397C>G (p.Leu2133Val)
|
rs573302015
|
0.00014
|
NM_006904.7(PRKDC):c.8265+11T>C
|
rs754488029
|
0.00014
|
NM_006904.7(PRKDC):c.8407A>G (p.Ile2803Val)
|
rs187739471
|
0.00014
|
NM_024782.3(NHEJ1):c.860C>T (p.Ser287Leu)
|
rs760280185
|
0.00014
|
NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn)
|
rs35469724
|
0.00014
|
NM_206937.2(LIG4):c.2448C>T (p.His816=)
|
rs368576780
|
0.00014
|
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val)
|
rs200369995
|
0.00014
|
NM_000022.4(ADA):c.827C>T (p.Thr276Met)
|
rs756480576
|
0.00013
|
NM_000448.3(RAG1):c.*1178G>A
|
rs149724031
|
0.00013
|
NM_000448.3(RAG1):c.597C>T (p.Asn199=)
|
rs148288583
|
0.00013
|
NM_001033855.3(DCLRE1C):c.*1236A>G
|
rs754767922
|
0.00013
|
NM_006904.7(PRKDC):c.10773T>C (p.Asp3591=)
|
rs141113800
|
0.00013
|
NM_006904.7(PRKDC):c.11591G>A (p.Arg3864His)
|
rs373169292
|
0.00013
|
NM_006904.7(PRKDC):c.11766C>T (p.Asp3922=)
|
rs8178247
|
0.00013
|
NM_006904.7(PRKDC):c.1525C>T (p.Arg509Cys)
|
rs147314874
|
0.00013
|
NM_006904.7(PRKDC):c.2955G>C (p.Glu985Asp)
|
rs202016860
|
0.00013
|
NM_006904.7(PRKDC):c.4777-13G>T
|
rs192921658
|
0.00013
|
NM_006904.7(PRKDC):c.4963-9T>A
|
rs575172711
|
0.00013
|
NM_006904.7(PRKDC):c.808+17A>G
|
rs764431253
|
0.00013
|
NM_006904.7(PRKDC):c.8326C>T (p.Arg2776Trp)
|
rs370862896
|
0.00013
|
NM_006904.7(PRKDC):c.871G>A (p.Val291Met)
|
rs372117480
|
0.00013
|
NM_006904.7(PRKDC):c.8787G>A (p.Leu2929=)
|
rs918972042
|
0.00013
|
NM_006904.7(PRKDC):c.9462A>G (p.Gln3154=)
|
rs772348033
|
0.00013
|
NM_206937.2(LIG4):c.*285A>G
|
rs748776641
|
0.00013
|
NM_206937.2(LIG4):c.1246G>T (p.Asp416Tyr)
|
rs148273759
|
0.00013
|
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp)
|
rs201779957
|
0.00012
|
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys)
|
rs145772007
|
0.00012
|
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)
|
rs141025671
|
0.00012
|
NM_001033855.3(DCLRE1C):c.1595T>G (p.Ile532Ser)
|
rs769134680
|
0.00012
|
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)
|
rs200693133
|
0.00012
|
NM_002872.5(RAC2):c.545C>T (p.Thr182Met)
|
rs141308774
|
0.00012
|
NM_005356.5(LCK):c.351C>T (p.Ala117=)
|
rs201521084
|
0.00012
|
NM_006904.7(PRKDC):c.11944A>G (p.Ser3982Gly)
|
rs374625875
|
0.00012
|
NM_006904.7(PRKDC):c.5081C>G (p.Thr1694Ser)
|
rs754361620
|
0.00012
|
NM_006904.7(PRKDC):c.6325G>A (p.Gly2109Ser)
|
rs199908344
|
0.00012
|
NM_006904.7(PRKDC):c.712A>G (p.Met238Val)
|
rs546088914
|
0.00012
|
NM_006904.7(PRKDC):c.8292G>A (p.Lys2764=)
|
rs750870740
|
0.00012
|
NM_006904.7(PRKDC):c.8522A>G (p.Asn2841Ser)
|
rs201099258
|
0.00012
|
NM_000022.4(ADA):c.664G>A (p.Glu222Lys)
|
rs371353841
|
0.00011
|
NM_000448.3(RAG1):c.2715C>T (p.Cys905=)
|
rs138119069
|
0.00011
|
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser)
|
rs144641461
|
0.00011
|
NM_001033855.3(DCLRE1C):c.537+13G>A
|
rs372309093
|
0.00011
|
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=)
|
rs778439805
|
0.00011
|
NM_001033855.3(DCLRE1C):c.746G>A (p.Arg249His)
|
rs374838779
|
0.00011
|
NM_001033855.3(DCLRE1C):c.789A>G (p.Glu263=)
|
rs149039288
|
0.00011
|
NM_001625.4(AK2):c.117C>T (p.Phe39=)
|
rs764509277
|
0.00011
|
NM_005356.5(LCK):c.141A>G (p.Pro47=)
|
rs745339412
|
0.00011
|
NM_006904.7(PRKDC):c.11990T>C (p.Leu3997Pro)
|
rs201883689
|
0.00011
|
NM_006904.7(PRKDC):c.3032A>G (p.Glu1011Gly)
|
rs370942895
|
0.00011
|
NM_006904.7(PRKDC):c.3281C>T (p.Ser1094Phe)
|
rs375944045
|
0.00011
|
NM_006904.7(PRKDC):c.3820A>G (p.Arg1274Gly)
|
rs559349334
|
0.00011
|
NM_006904.7(PRKDC):c.393T>C (p.Leu131=)
|
rs373096832
|
0.00011
|
NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=)
|
rs189680139
|
0.00011
|
NM_006904.7(PRKDC):c.4240A>G (p.Ile1414Val)
|
rs373660300
|
0.00011
|
NM_006904.7(PRKDC):c.5079C>G (p.Val1693=)
|
rs201654601
|
0.00011
|
NM_006904.7(PRKDC):c.7355G>A (p.Arg2452Gln)
|
rs374149944
|
0.00011
|
NM_024782.3(NHEJ1):c.783C>G (p.Val261=)
|
rs374469478
|
0.00011
|
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
|
rs774699419
|
0.00011
|
NM_206937.2(LIG4):c.230G>A (p.Arg77Lys)
|
rs199707115
|
0.00011
|
NM_000448.3(RAG1):c.*3058A>G
|
rs746468007
|
0.00010
|
NM_000536.4(RAG2):c.334A>G (p.Ile112Val)
|
rs373703454
|
0.00010
|
NM_000536.4(RAG2):c.369C>T (p.Arg123=)
|
rs369277180
|
0.00010
|
NM_002872.5(RAC2):c.147G>A (p.Lys49=)
|
rs140543568
|
0.00010
|
NM_005356.5(LCK):c.1292C>T (p.Thr431Met)
|
rs1801124
|
0.00010
|
NM_005356.5(LCK):c.612A>G (p.Glu204=)
|
rs369593995
|
0.00010
|
NM_006904.7(PRKDC):c.10274G>T (p.Arg3425Leu)
|
rs377205091
|
0.00010
|
NM_006904.7(PRKDC):c.11048G>A (p.Cys3683Tyr)
|
rs148018130
|
0.00010
|
NM_006904.7(PRKDC):c.11160C>T (p.Ala3720=)
|
rs758969884
|
0.00010
|
NM_006904.7(PRKDC):c.1526G>A (p.Arg509His)
|
rs763089720
|
0.00010
|
NM_006904.7(PRKDC):c.4179T>A (p.Ala1393=)
|
rs774069970
|
0.00010
|
NM_006904.7(PRKDC):c.4407G>A (p.Pro1469=)
|
rs763108417
|
0.00010
|
NM_006904.7(PRKDC):c.508+9C>T
|
rs369634271
|
0.00010
|
NM_006904.7(PRKDC):c.6515C>T (p.Ala2172Val)
|
rs369585515
|
0.00010
|
NM_006904.7(PRKDC):c.8692C>T (p.Leu2898Phe)
|
rs746024122
|
0.00010
|
NM_024782.3(NHEJ1):c.837C>A (p.Gly279=)
|
rs145592698
|
0.00010
|
NM_206937.2(LIG4):c.*306A>G
|
rs886049945
|
0.00010
|
NM_206937.2(LIG4):c.-101-181T>C
|
rs1009787521
|
0.00010
|
NM_206937.2(LIG4):c.-101-31A>G
|
rs117159741
|
0.00010
|
NM_206937.2(LIG4):c.1891G>A (p.Ala631Thr)
|
rs200385778
|
0.00010
|
NM_000022.4(ADA):c.192G>A (p.Lys64=)
|
rs144168646
|
0.00009
|
NM_000022.4(ADA):c.221G>T (p.Gly74Val)
|
rs199422328
|
0.00009
|
NM_000022.4(ADA):c.57C>T (p.Asp19=)
|
rs762695968
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000022.4(ADA):c.714C>T (p.His238=)
|
rs577317154
|
0.00009
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
NM_000448.3(RAG1):c.2753G>A (p.Arg918His)
|
rs368073575
|
0.00009
|
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu)
|
rs539590514
|
0.00009
|
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys)
|
rs150349031
|
0.00009
|
NM_000536.4(RAG2):c.1205A>G (p.Tyr402Cys)
|
rs199798089
|
0.00009
|
NM_001033855.3(DCLRE1C):c.*1407C>T
|
rs886046834
|
0.00009
|
NM_001033855.3(DCLRE1C):c.*490T>C
|
rs1466184504
|
0.00009
|
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln)
|
rs150854849
|
0.00009
|
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn)
|
rs773799685
|
0.00009
|
NM_001033855.3(DCLRE1C):c.679-6C>T
|
rs201040496
|
0.00009
|
NM_001625.4(AK2):c.229G>A (p.Glu77Lys)
|
rs370935115
|
0.00009
|
NM_001625.4(AK2):c.661G>A (p.Ala221Thr)
|
rs201817938
|
0.00009
|
NM_005356.5(LCK):c.360C>T (p.Asn120=)
|
rs745802797
|
0.00009
|
NM_005356.5(LCK):c.481+7G>A
|
rs1270606553
|
0.00009
|
NM_006904.7(PRKDC):c.10033C>A (p.Pro3345Thr)
|
rs374825096
|
0.00009
|
NM_006904.7(PRKDC):c.154+11G>A
|
rs1463939061
|
0.00009
|
NM_006904.7(PRKDC):c.1892+18A>T
|
rs8178034
|
0.00009
|
NM_006904.7(PRKDC):c.2143G>A (p.Ala715Thr)
|
rs776400735
|
0.00009
|
NM_006904.7(PRKDC):c.3931A>G (p.Lys1311Glu)
|
rs764358542
|
0.00009
|
NM_006904.7(PRKDC):c.4430A>G (p.His1477Arg)
|
rs777258009
|
0.00009
|
NM_006904.7(PRKDC):c.5107A>G (p.Thr1703Ala)
|
rs376188635
|
0.00009
|
NM_006904.7(PRKDC):c.6909G>A (p.Leu2303=)
|
rs765057141
|
0.00009
|
NM_006904.7(PRKDC):c.6936T>C (p.Tyr2312=)
|
rs55726602
|
0.00009
|
NM_006904.7(PRKDC):c.7010T>C (p.Leu2337Pro)
|
rs375706148
|
0.00009
|
NM_006904.7(PRKDC):c.7454+8A>G
|
rs1466355747
|
0.00009
|
NM_006904.7(PRKDC):c.7787G>A (p.Arg2596His)
|
rs201726098
|
0.00009
|
NM_006904.7(PRKDC):c.9112-19A>T
|
rs371303455
|
0.00009
|
NM_006904.7(PRKDC):c.9112-20T>G
|
rs766328462
|
0.00009
|
NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn)
|
rs367766187
|
0.00009
|
NM_206937.2(LIG4):c.1913T>C (p.Ile638Thr)
|
rs372158210
|
0.00009
|
NM_206937.2(LIG4):c.2245T>C (p.Ser749Pro)
|
rs138080550
|
0.00009
|
NM_206937.2(LIG4):c.2390C>T (p.Ala797Val)
|
rs373272193
|
0.00009
|
NM_206937.2(LIG4):c.2655G>A (p.Lys885=)
|
rs151271748
|
0.00009
|
NM_000022.4(ADA):c.855T>C (p.Asn285=)
|
rs374601935
|
0.00008
|
NM_000448.3(RAG1):c.156C>T (p.Ser52=)
|
rs544850214
|
0.00008
|
NM_000448.3(RAG1):c.2428A>G (p.Ile810Val)
|
rs61752933
|
0.00008
|
NM_000448.3(RAG1):c.830A>G (p.Lys277Arg)
|
rs1027087402
|
0.00008
|
NM_001033855.3(DCLRE1C):c.1061+19T>C
|
rs895355133
|
0.00008
|
NM_001625.4(AK2):c.504C>T (p.Thr168=)
|
rs61750964
|
0.00008
|
NM_001625.4(AK2):c.54C>T (p.Ala18=)
|
rs76061645
|
0.00008
|
NM_002872.5(RAC2):c.448+12G>A
|
rs373971208
|
0.00008
|
NM_006904.7(PRKDC):c.10172C>T (p.Ala3391Val)
|
rs562934408
|
0.00008
|
NM_006904.7(PRKDC):c.10533C>T (p.Ala3511=)
|
rs367827058
|
0.00008
|
NM_006904.7(PRKDC):c.11232C>T (p.Asp3744=)
|
rs369155664
|
0.00008
|
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=)
|
rs576550975
|
0.00008
|
NM_006904.7(PRKDC):c.4124C>T (p.Thr1375Met)
|
rs201150235
|
0.00008
|
NM_006904.7(PRKDC):c.6411A>G (p.Ile2137Met)
|
rs192137701
|
0.00008
|
NM_006904.7(PRKDC):c.6466-20A>G
|
rs764316285
|
0.00008
|
NM_006904.7(PRKDC):c.7459C>T (p.Pro2487Ser)
|
rs760340924
|
0.00008
|
NM_006904.7(PRKDC):c.7750T>C (p.Cys2584Arg)
|
rs746648336
|
0.00008
|
NM_006904.7(PRKDC):c.8229T>C (p.Tyr2743=)
|
rs562024708
|
0.00008
|
NM_006904.7(PRKDC):c.8265+5G>A
|
rs376002667
|
0.00008
|
NM_024782.3(NHEJ1):c.703G>A (p.Ala235Thr)
|
rs375778719
|
0.00008
|
NM_024782.3(NHEJ1):c.826-13C>T
|
rs190480146
|
0.00008
|
NM_206937.2(LIG4):c.1473C>G (p.Pro491=)
|
rs189319839
|
0.00008
|
NM_206937.2(LIG4):c.1604C>T (p.Pro535Leu)
|
rs374074342
|
0.00008
|
NM_206937.2(LIG4):c.1756G>C (p.Asp586His)
|
rs753492255
|
0.00008
|
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala)
|
rs137899041
|
0.00008
|
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_000448.3(RAG1):c.2603C>T (p.Ala868Val)
|
rs193922462
|
0.00007
|
NM_000448.3(RAG1):c.60C>T (p.His20=)
|
rs138801620
|
0.00007
|
NM_000536.4(RAG2):c.1083A>G (p.Thr361=)
|
rs371025129
|
0.00007
|
NM_001033855.3(DCLRE1C):c.1435C>T (p.Leu479=)
|
rs764005111
|
0.00007
|
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys)
|
rs373675907
|
0.00007
|
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=)
|
rs369844484
|
0.00007
|
NM_001625.4(AK2):c.171C>A (p.Gly57=)
|
rs61755973
|
0.00007
|
NM_001625.4(AK2):c.630C>G (p.Ile210Met)
|
rs746330303
|
0.00007
|
NM_006904.7(PRKDC):c.11794A>G (p.Met3932Val)
|
rs8178248
|
0.00007
|
NM_006904.7(PRKDC):c.1218T>C (p.Arg406=)
|
rs1010515454
|
0.00007
|
NM_006904.7(PRKDC):c.12375G>A (p.Glu4125=)
|
rs764708924
|
0.00007
|
NM_006904.7(PRKDC):c.2259+6C>T
|
rs559425878
|
0.00007
|
NM_006904.7(PRKDC):c.3834G>A (p.Ala1278=)
|
rs8178088
|
0.00007
|
NM_006904.7(PRKDC):c.593G>A (p.Arg198His)
|
rs368974848
|
0.00007
|
NM_006904.7(PRKDC):c.7108A>T (p.Ser2370Cys)
|
rs774264545
|
0.00007
|
NM_006904.7(PRKDC):c.7637A>G (p.Tyr2546Cys)
|
rs751177822
|
0.00007
|
NM_006904.7(PRKDC):c.7649T>C (p.Ile2550Thr)
|
rs373258150
|
0.00007
|
NM_006904.7(PRKDC):c.777+12A>G
|
rs377345439
|
0.00007
|
NM_006904.7(PRKDC):c.7833C>T (p.Ala2611=)
|
rs375277772
|
0.00007
|
NM_006904.7(PRKDC):c.8923-18T>C
|
rs996319313
|
0.00007
|
NM_024782.3(NHEJ1):c.830C>T (p.Thr277Ile)
|
rs145834367
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val)
|
rs188422094
|
0.00007
|
NM_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)
|
rs121908737
|
0.00006
|
NM_000022.4(ADA):c.61T>G (p.Ser21Ala)
|
rs139350872
|
0.00006
|
NM_000022.4(ADA):c.621C>T (p.Ser207=)
|
rs373256688
|
0.00006
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000022.4(ADA):c.844C>T (p.Arg282Trp)
|
rs559798694
|
0.00006
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
NM_000022.4(ADA):c.937C>A (p.Arg313=)
|
rs79249850
|
0.00006
|
NM_000448.3(RAG1):c.*2308G>A
|
rs766934756
|
0.00006
|
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln)
|
rs377307948
|
0.00006
|
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile)
|
rs200758244
|
0.00006
|
NM_000448.3(RAG1):c.1060C>A (p.Leu354Met)
|
rs753165042
|
0.00006
|
NM_000448.3(RAG1):c.1665C>T (p.Thr555=)
|
rs141265699
|
0.00006
|
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)
|
rs104894287
|
0.00006
|
NM_000448.3(RAG1):c.2808C>A (p.Thr936=)
|
rs199921936
|
0.00006
|
NM_000448.3(RAG1):c.3089G>T (p.Gly1030Val)
|
rs369891733
|
0.00006
|
NM_000448.3(RAG1):c.470A>G (p.Lys157Arg)
|
rs1258478128
|
0.00006
|
NM_000448.3(RAG1):c.917C>T (p.Thr306Ile)
|
rs145962212
|
0.00006
|
NM_000536.4(RAG2):c.213T>C (p.Pro71=)
|
rs751114608
|
0.00006
|
NM_000536.4(RAG2):c.718C>T (p.Leu240Phe)
|
rs374781438
|
0.00006
|
NM_000536.4(RAG2):c.898C>T (p.Arg300Cys)
|
rs746253611
|
0.00006
|
NM_001033855.3(DCLRE1C):c.*11C>T
|
rs374087349
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp)
|
rs748164114
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1218A>G (p.Pro406=)
|
rs1043126231
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val)
|
rs115250914
|
0.00006
|
NM_001033855.3(DCLRE1C):c.161+8A>C
|
rs542719569
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val)
|
rs777250271
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys)
|
rs61757205
|
0.00006
|
NM_001033855.3(DCLRE1C):c.2004A>G (p.Gln668=)
|
rs150063030
|
0.00006
|
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln)
|
rs760897653
|
0.00006
|
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu)
|
rs772391197
|
0.00006
|
NM_001033855.3(DCLRE1C):c.678+12G>A
|
rs201504698
|
0.00006
|
NM_001033855.3(DCLRE1C):c.678+5G>T
|
rs750695358
|
0.00006
|
NM_001625.4(AK2):c.499-11C>T
|
rs201868300
|
0.00006
|
NM_001625.4(AK2):c.660C>T (p.Phe220=)
|
rs566166581
|
0.00006
|
NM_002872.5(RAC2):c.571C>T (p.Leu191Phe)
|
rs755097815
|
0.00006
|
NM_005356.5(LCK):c.84C>T (p.Val28=)
|
rs144437329
|
0.00006
|
NM_006904.7(PRKDC):c.10362A>G (p.Leu3454=)
|
rs376203472
|
0.00006
|
NM_006904.7(PRKDC):c.10774G>T (p.Val3592Leu)
|
rs1490966994
|
0.00006
|
NM_006904.7(PRKDC):c.10979A>G (p.Asn3660Ser)
|
rs762741199
|
0.00006
|
NM_006904.7(PRKDC):c.11397-9C>T
|
rs374410164
|
0.00006
|
NM_006904.7(PRKDC):c.11754C>T (p.Leu3918=)
|
rs774251901
|
0.00006
|
NM_006904.7(PRKDC):c.11835G>A (p.Ala3945=)
|
rs375610707
|
0.00006
|
NM_006904.7(PRKDC):c.1199C>G (p.Thr400Arg)
|
rs201070491
|
0.00006
|
NM_006904.7(PRKDC):c.12122G>A (p.Arg4041Gln)
|
rs369274149
|
0.00006
|
NM_006904.7(PRKDC):c.1245G>A (p.Gln415=)
|
rs753549842
|
0.00006
|
NM_006904.7(PRKDC):c.2730C>T (p.Phe910=)
|
rs575267352
|
0.00006
|
NM_006904.7(PRKDC):c.2781+4C>T
|
rs753255222
|
0.00006
|
NM_006904.7(PRKDC):c.300C>T (p.Ile100=)
|
rs772911847
|
0.00006
|
NM_006904.7(PRKDC):c.3698C>T (p.Ser1233Leu)
|
rs575674401
|
0.00006
|
NM_006904.7(PRKDC):c.4311T>C (p.Tyr1437=)
|
rs181439210
|
0.00006
|
NM_006904.7(PRKDC):c.4626C>T (p.Ser1542=)
|
rs776255004
|
0.00006
|
NM_006904.7(PRKDC):c.4707G>A (p.Thr1569=)
|
rs764996706
|
0.00006
|
NM_006904.7(PRKDC):c.4962+8A>G
|
rs767290425
|
0.00006
|
NM_006904.7(PRKDC):c.5571+5C>T
|
rs780022870
|
0.00006
|
NM_006904.7(PRKDC):c.5760C>T (p.Tyr1920=)
|
rs188014107
|
0.00006
|
NM_006904.7(PRKDC):c.5986G>A (p.Val1996Ile)
|
rs768367219
|
0.00006
|
NM_006904.7(PRKDC):c.6063T>C (p.Gly2021=)
|
rs574690962
|
0.00006
|
NM_006904.7(PRKDC):c.6837C>T (p.Ile2279=)
|
rs370793247
|
0.00006
|
NM_006904.7(PRKDC):c.7037C>T (p.Ala2346Val)
|
rs201543814
|
0.00006
|
NM_006904.7(PRKDC):c.7372G>A (p.Val2458Ile)
|
rs750283813
|
0.00006
|
NM_006904.7(PRKDC):c.7954G>A (p.Gly2652Arg)
|
rs746861565
|
0.00006
|
NM_006904.7(PRKDC):c.7960A>C (p.Ser2654Arg)
|
rs201377093
|
0.00006
|
NM_006904.7(PRKDC):c.8043C>T (p.Ala2681=)
|
rs200543348
|
0.00006
|
NM_006904.7(PRKDC):c.8180G>A (p.Arg2727Gln)
|
rs766871497
|
0.00006
|
NM_006904.7(PRKDC):c.8415A>C (p.Ala2805=)
|
rs77033659
|
0.00006
|
NM_006904.7(PRKDC):c.8539A>G (p.Thr2847Ala)
|
rs748507687
|
0.00006
|
NM_006904.7(PRKDC):c.8696G>A (p.Arg2899His)
|
rs752729212
|
0.00006
|
NM_006904.7(PRKDC):c.8744G>A (p.Arg2915His)
|
rs370540517
|
0.00006
|
NM_006904.7(PRKDC):c.8857A>T (p.Thr2953Ser)
|
rs369402631
|
0.00006
|
NM_006904.7(PRKDC):c.9226G>A (p.Ala3076Thr)
|
rs771437391
|
0.00006
|
NM_024782.3(NHEJ1):c.229G>T (p.Asp77Tyr)
|
rs774491145
|
0.00006
|
NM_024782.3(NHEJ1):c.30G>A (p.Met10Ile)
|
rs370275980
|
0.00006
|
NM_024782.3(NHEJ1):c.41C>T (p.Ala14Val)
|
rs747032828
|
0.00006
|
NM_206937.2(LIG4):c.1437G>T (p.Met479Ile)
|
rs529839175
|
0.00006
|
NM_206937.2(LIG4):c.1496T>C (p.Val499Ala)
|
rs201683262
|
0.00006
|
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
|
rs768563098
|
0.00006
|
NM_206937.2(LIG4):c.208C>T (p.Leu70=)
|
rs193107403
|
0.00006
|
NM_206937.2(LIG4):c.2300T>C (p.Ile767Thr)
|
rs750390328
|
0.00006
|
NM_206937.2(LIG4):c.2310C>T (p.Asp770=)
|
rs776444477
|
0.00006
|
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)
|
rs138021217
|
0.00006
|
NM_000022.4(ADA):c.381C>T (p.Asp127=)
|
rs7344760
|
0.00005
|
NM_000022.4(ADA):c.479-8G>A
|
rs754077913
|
0.00005
|
NM_000022.4(ADA):c.679-6C>T
|
rs375562913
|
0.00005
|
NM_000022.4(ADA):c.757C>T (p.Arg253Trp)
|
rs201944717
|
0.00005
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000022.4(ADA):c.934A>C (p.Lys312Gln)
|
rs530131290
|
0.00005
|
NM_000448.3(RAG1):c.*1705A>G
|
rs886048264
|
0.00005
|
NM_000448.3(RAG1):c.1012A>C (p.Thr338Pro)
|
rs773326832
|
0.00005
|
NM_000448.3(RAG1):c.2487G>T (p.Arg829Ser)
|
rs752304188
|
0.00005
|
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)
|
rs772962160
|
0.00005
|
NM_000448.3(RAG1):c.824G>A (p.Ser275Asn)
|
rs368607209
|
0.00005
|
NM_000448.3(RAG1):c.850C>T (p.Pro284Ser)
|
rs768862261
|
0.00005
|
NM_000536.4(RAG2):c.1251T>C (p.Ile417=)
|
rs748248673
|
0.00005
|
NM_000536.4(RAG2):c.157A>C (p.Asn53His)
|
rs774097244
|
0.00005
|
NM_000536.4(RAG2):c.417T>G (p.Gly139=)
|
rs373022390
|
0.00005
|
NM_001033855.3(DCLRE1C):c.*482T>C
|
rs886046844
|
0.00005
|
NM_001033855.3(DCLRE1C):c.1408C>A (p.Gln470Lys)
|
rs750104684
|
0.00005
|
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)
|
rs140176235
|
0.00005
|
NM_001033855.3(DCLRE1C):c.745C>T (p.Arg249Cys)
|
rs757474059
|
0.00005
|
NM_001625.4(AK2):c.277A>G (p.Lys93Glu)
|
rs767276648
|
0.00005
|
NM_001625.4(AK2):c.615G>C (p.Gly205=)
|
rs769651837
|
0.00005
|
NM_002872.5(RAC2):c.78C>T (p.Asn26=)
|
rs375093215
|
0.00005
|
NM_005356.5(LCK):c.631+3G>A
|
rs373470036
|
0.00005
|
NM_005356.5(LCK):c.785-5C>T
|
rs746656319
|
0.00005
|
NM_005356.5(LCK):c.964+17T>A
|
rs1052646904
|
0.00005
|
NM_006904.7(PRKDC):c.1054G>A (p.Val352Met)
|
rs772734060
|
0.00005
|
NM_006904.7(PRKDC):c.11377G>A (p.Val3793Ile)
|
rs547031184
|
0.00005
|
NM_006904.7(PRKDC):c.11696C>T (p.Ala3899Val)
|
rs371310347
|
0.00005
|
NM_006904.7(PRKDC):c.12133T>C (p.Cys4045Arg)
|
rs377160171
|
0.00005
|
NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp)
|
rs529354763
|
0.00005
|
NM_006904.7(PRKDC):c.1535G>T (p.Gly512Val)
|
rs549230210
|
0.00005
|
NM_006904.7(PRKDC):c.1960A>G (p.Ile654Val)
|
rs1027194623
|
0.00005
|
NM_006904.7(PRKDC):c.2526+18T>C
|
rs760870903
|
0.00005
|
NM_006904.7(PRKDC):c.2781+5T>C
|
rs557417636
|
0.00005
|
NM_006904.7(PRKDC):c.3491G>C (p.Cys1164Ser)
|
rs542013946
|
0.00005
|
NM_006904.7(PRKDC):c.4234A>G (p.Lys1412Glu)
|
rs768938353
|
0.00005
|
NM_006904.7(PRKDC):c.4580G>A (p.Arg1527His)
|
rs768314532
|
0.00005
|
NM_006904.7(PRKDC):c.5527A>G (p.Ile1843Val)
|
rs573489900
|
0.00005
|
NM_006904.7(PRKDC):c.594C>T (p.Arg198=)
|
rs550250358
|
0.00005
|
NM_006904.7(PRKDC):c.6141C>T (p.Thr2047=)
|
rs8178141
|
0.00005
|
NM_006904.7(PRKDC):c.6268C>T (p.Arg2090Trp)
|
rs375294044
|
0.00005
|
NM_006904.7(PRKDC):c.6621A>G (p.Lys2207=)
|
rs757287016
|
0.00005
|
NM_006904.7(PRKDC):c.7210C>T (p.Arg2404Cys)
|
rs768108353
|
0.00005
|
NM_006904.7(PRKDC):c.8163C>A (p.Gly2721=)
|
rs374804712
|
0.00005
|
NM_006904.7(PRKDC):c.8599G>A (p.Ala2867Thr)
|
rs569886407
|
0.00005
|
NM_006904.7(PRKDC):c.9292A>G (p.Arg3098Gly)
|
rs377579402
|
0.00005
|
NM_006904.7(PRKDC):c.991G>A (p.Ala331Thr)
|
rs751671583
|
0.00005
|
NM_006904.7(PRKDC):c.9922+3A>G
|
rs548987190
|
0.00005
|
NM_024782.3(NHEJ1):c.896G>A (p.Ser299Asn)
|
rs370636072
|
0.00005
|
NM_206937.2(LIG4):c.*242A>G
|
rs886049946
|
0.00005
|
NM_206937.2(LIG4):c.1847A>G (p.Tyr616Cys)
|
rs778875030
|
0.00005
|
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)
|
rs755708095
|
0.00005
|
NM_206937.2(LIG4):c.381G>C (p.Met127Ile)
|
rs61752350
|
0.00005
|
NM_000022.4(ADA):c.1079-6G>A
|
rs367991521
|
0.00004
|
NM_000022.4(ADA):c.179A>G (p.Asp60Gly)
|
rs760262095
|
0.00004
|
NM_000022.4(ADA):c.21C>T (p.Phe7=)
|
rs925528695
|
0.00004
|
NM_000022.4(ADA):c.260T>C (p.Val87Ala)
|
rs778994749
|
0.00004
|
NM_000022.4(ADA):c.525G>A (p.Gln175=)
|
rs769506264
|
0.00004
|
NM_000022.4(ADA):c.528C>T (p.Thr176=)
|
rs780518207
|
0.00004
|
NM_000022.4(ADA):c.642C>T (p.His214=)
|
rs562055008
|
0.00004
|
NM_000022.4(ADA):c.663C>T (p.Ala221=)
|
rs553639716
|
0.00004
|
NM_000022.4(ADA):c.891G>A (p.Pro297=)
|
rs776360146
|
0.00004
|
NM_000022.4(ADA):c.96-4C>T
|
rs764177495
|
0.00004
|
NM_000022.4(ADA):c.975+14A>G
|
rs200660399
|
0.00004
|
NM_000448.3(RAG1):c.*1732C>T
|
rs938546665
|
0.00004
|
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser)
|
rs202189218
|
0.00004
|
NM_000448.3(RAG1):c.1524T>C (p.Asn508=)
|
rs370855517
|
0.00004
|
NM_000448.3(RAG1):c.1727A>T (p.Asp576Val)
|
rs142333735
|
0.00004
|
NM_000448.3(RAG1):c.2004C>T (p.His668=)
|
rs1367781663
|
0.00004
|
NM_000448.3(RAG1):c.2009C>T (p.Thr670Met)
|
rs139863630
|
0.00004
|
NM_000448.3(RAG1):c.2516A>T (p.His839Leu)
|
rs778785063
|
0.00004
|
NM_000448.3(RAG1):c.2554A>T (p.Met852Leu)
|
rs760255456
|
0.00004
|
NM_000448.3(RAG1):c.2874A>G (p.Ala958=)
|
rs138510915
|
0.00004
|
NM_000448.3(RAG1):c.2913T>C (p.Phe971=)
|
rs747371869
|
0.00004
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
NM_000448.3(RAG1):c.3025C>T (p.His1009Tyr)
|
rs376829075
|
0.00004
|
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
|
rs193922464
|
0.00004
|
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu)
|
rs753042511
|
0.00004
|
NM_000448.3(RAG1):c.598G>A (p.Val200Met)
|
rs1232282131
|
0.00004
|
NM_000448.3(RAG1):c.655C>T (p.Arg219Trp)
|
rs368199324
|
0.00004
|
NM_000448.3(RAG1):c.656G>A (p.Arg219Gln)
|
rs764179803
|
0.00004
|
NM_000448.3(RAG1):c.799G>A (p.Ala267Thr)
|
rs148393376
|
0.00004
|
NM_000448.3(RAG1):c.819T>C (p.His273=)
|
rs769498487
|
0.00004
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
NM_000536.4(RAG2):c.1443T>C (p.His481=)
|
rs560115611
|
0.00004
|
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)
|
rs764485070
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1062-9T>C
|
rs777718467
|
0.00004
|
NM_001033855.3(DCLRE1C):c.114C>T (p.His38=)
|
rs775593307
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys)
|
rs746552030
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=)
|
rs114767681
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1524T>G (p.Pro508=)
|
rs751349938
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=)
|
rs199619187
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1865C>T (p.Thr622Ile)
|
rs759929745
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln)
|
rs779159378
|
0.00004
|
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr)
|
rs140602902
|
0.00004
|
NM_001033855.3(DCLRE1C):c.219G>A (p.Pro73=)
|
rs147784627
|
0.00004
|
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
|
rs191086777
|
0.00004
|
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala)
|
rs756366535
|
0.00004
|
NM_001033855.3(DCLRE1C):c.380A>G (p.Asn127Ser)
|
rs752558172
|
0.00004
|
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile)
|
rs754602932
|
0.00004
|
NM_001033855.3(DCLRE1C):c.500C>T (p.Thr167Met)
|
rs149556109
|
0.00004
|
NM_001033855.3(DCLRE1C):c.808T>C (p.Leu270=)
|
rs755495143
|
0.00004
|
NM_001033855.3(DCLRE1C):c.84C>T (p.Ala28=)
|
rs772007901
|
0.00004
|
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)
|
rs774772480
|
0.00004
|
NM_001625.4(AK2):c.226G>A (p.Asp76Asn)
|
rs755150735
|
0.00004
|
NM_001625.4(AK2):c.349A>G (p.Lys117Glu)
|
rs1340710121
|
0.00004
|
NM_001625.4(AK2):c.433C>G (p.His145Asp)
|
rs749178848
|
0.00004
|
NM_001625.4(AK2):c.449G>A (p.Arg150His)
|
rs149227118
|
0.00004
|
NM_001625.4(AK2):c.472C>T (p.Pro158Ser)
|
rs552815574
|
0.00004
|
NM_001625.4(AK2):c.55G>A (p.Val19Met)
|
rs761910421
|
0.00004
|
NM_001625.4(AK2):c.655G>A (p.Val219Met)
|
rs755736918
|
0.00004
|
NM_002872.5(RAC2):c.282C>T (p.Arg94=)
|
rs201989515
|
0.00004
|
NM_002872.5(RAC2):c.420G>A (p.Pro140=)
|
rs539660525
|
0.00004
|
NM_005356.5(LCK):c.1290G>A (p.Leu430=)
|
rs371007675
|
0.00004
|
NM_005356.5(LCK):c.1328-4G>A
|
rs950290889
|
0.00004
|
NM_005356.5(LCK):c.1341G>A (p.Pro447=)
|
rs777215464
|
0.00004
|
NM_005356.5(LCK):c.1382G>A (p.Arg461His)
|
rs763148386
|
0.00004
|
NM_005356.5(LCK):c.1405C>A (p.Leu469Met)
|
rs767828400
|
0.00004
|
NM_005356.5(LCK):c.1497G>A (p.Thr499=)
|
rs375587756
|
0.00004
|
NM_005356.5(LCK):c.444C>A (p.His148Gln)
|
rs763681220
|
0.00004
|
NM_005356.5(LCK):c.632A>T (p.Asn211Ile)
|
rs766580359
|
0.00004
|
NM_006904.7(PRKDC):c.10241T>C (p.Met3414Thr)
|
rs375012835
|
0.00004
|
NM_006904.7(PRKDC):c.10467C>T (p.Ser3489=)
|
rs760537334
|
0.00004
|
NM_006904.7(PRKDC):c.10524A>G (p.Lys3508=)
|
rs1238674038
|
0.00004
|
NM_006904.7(PRKDC):c.10670+11T>C
|
rs374299207
|
0.00004
|
NM_006904.7(PRKDC):c.10980C>T (p.Asn3660=)
|
rs748247359
|
0.00004
|
NM_006904.7(PRKDC):c.11125G>A (p.Gly3709Arg)
|
rs749130474
|
0.00004
|
NM_006904.7(PRKDC):c.11163G>A (p.Gly3721=)
|
rs750875142
|
0.00004
|
NM_006904.7(PRKDC):c.11237G>A (p.Arg3746Lys)
|
rs765160098
|
0.00004
|
NM_006904.7(PRKDC):c.11276G>A (p.Arg3759Gln)
|
rs745385113
|
0.00004
|
NM_006904.7(PRKDC):c.11288G>A (p.Arg3763His)
|
rs771587412
|
0.00004
|
NM_006904.7(PRKDC):c.11675C>T (p.Thr3892Ile)
|
rs374822637
|
0.00004
|
NM_006904.7(PRKDC):c.1203C>T (p.Asp401=)
|
rs1269983241
|
0.00004
|
NM_006904.7(PRKDC):c.1312C>A (p.Leu438Ile)
|
rs1324484032
|
0.00004
|
NM_006904.7(PRKDC):c.1330G>C (p.Asp444His)
|
rs1368565785
|
0.00004
|
NM_006904.7(PRKDC):c.155-20T>C
|
rs530661663
|
0.00004
|
NM_006904.7(PRKDC):c.1581C>T (p.Tyr527=)
|
rs551598588
|
0.00004
|
NM_006904.7(PRKDC):c.1607G>A (p.Ser536Asn)
|
rs764041628
|
0.00004
|
NM_006904.7(PRKDC):c.1630A>G (p.Ile544Val)
|
rs756082781
|
0.00004
|
NM_006904.7(PRKDC):c.1862C>T (p.Ser621Leu)
|
rs759890511
|
0.00004
|
NM_006904.7(PRKDC):c.2001C>T (p.Tyr667=)
|
rs763151035
|
0.00004
|
NM_006904.7(PRKDC):c.2230G>A (p.Asp744Asn)
|
rs35938758
|
0.00004
|
NM_006904.7(PRKDC):c.2260-7C>T
|
rs770140937
|
0.00004
|
NM_006904.7(PRKDC):c.2432A>G (p.Asn811Ser)
|
rs202216147
|
0.00004
|
NM_006904.7(PRKDC):c.2834C>T (p.Ala945Val)
|
rs892759827
|
0.00004
|
NM_006904.7(PRKDC):c.3121A>G (p.Ile1041Val)
|
rs560845048
|
0.00004
|
NM_006904.7(PRKDC):c.3264A>G (p.Glu1088=)
|
rs866967844
|
0.00004
|
NM_006904.7(PRKDC):c.3270-12T>C
|
rs191837814
|
0.00004
|
NM_006904.7(PRKDC):c.3598+16T>A
|
rs377193047
|
0.00004
|
NM_006904.7(PRKDC):c.3744C>T (p.Phe1248=)
|
rs200729621
|
0.00004
|
NM_006904.7(PRKDC):c.3786C>T (p.Ala1262=)
|
rs56271641
|
0.00004
|
NM_006904.7(PRKDC):c.3833C>T (p.Ala1278Val)
|
rs368851152
|
0.00004
|
NM_006904.7(PRKDC):c.4299C>T (p.Ala1433=)
|
rs368261679
|
0.00004
|
NM_006904.7(PRKDC):c.4386G>A (p.Gly1462=)
|
rs759726544
|
0.00004
|
NM_006904.7(PRKDC):c.4394A>G (p.His1465Arg)
|
rs774655889
|
0.00004
|
NM_006904.7(PRKDC):c.4413+7A>G
|
rs773414458
|
0.00004
|
NM_006904.7(PRKDC):c.4572+12G>A
|
rs956684734
|
0.00004
|
NM_006904.7(PRKDC):c.5067+7A>T
|
rs1375934238
|
0.00004
|
NM_006904.7(PRKDC):c.508+16A>G
|
rs376578006
|
0.00004
|
NM_006904.7(PRKDC):c.5253A>G (p.Glu1751=)
|
rs8178120
|
0.00004
|
NM_006904.7(PRKDC):c.5464C>T (p.Arg1822Cys)
|
rs377127342
|
0.00004
|
NM_006904.7(PRKDC):c.5761G>A (p.Asp1921Asn)
|
rs373832970
|
0.00004
|
NM_006904.7(PRKDC):c.5841C>T (p.Cys1947=)
|
rs546063249
|
0.00004
|
NM_006904.7(PRKDC):c.6293C>T (p.Thr2098Met)
|
rs200868218
|
0.00004
|
NM_006904.7(PRKDC):c.6320G>A (p.Ser2107Asn)
|
rs372222636
|
0.00004
|
NM_006904.7(PRKDC):c.6466-9C>T
|
rs752823972
|
0.00004
|
NM_006904.7(PRKDC):c.6762-8T>C
|
rs745921001
|
0.00004
|
NM_006904.7(PRKDC):c.7384G>A (p.Val2462Ile)
|
rs776319051
|
0.00004
|
NM_006904.7(PRKDC):c.7581T>C (p.His2527=)
|
rs572996196
|
0.00004
|
NM_006904.7(PRKDC):c.7678A>G (p.Asn2560Asp)
|
rs370153239
|
0.00004
|
NM_006904.7(PRKDC):c.7892T>A (p.Val2631Glu)
|
rs367945650
|
0.00004
|
NM_006904.7(PRKDC):c.8308G>A (p.Val2770Ile)
|
rs764298664
|
0.00004
|
NM_006904.7(PRKDC):c.891G>A (p.Leu297=)
|
rs368582259
|
0.00004
|
NM_006904.7(PRKDC):c.9030A>T (p.Ser3010=)
|
rs759496711
|
0.00004
|
NM_006904.7(PRKDC):c.9137G>A (p.Arg3046His)
|
rs373925433
|
0.00004
|
NM_006904.7(PRKDC):c.9336+4A>G
|
rs760400696
|
0.00004
|
NM_006904.7(PRKDC):c.9557+7C>T
|
rs775912901
|
0.00004
|
NM_006904.7(PRKDC):c.9845G>A (p.Arg3282His)
|
rs758666662
|
0.00004
|
NM_006904.7(PRKDC):c.9934G>A (p.Val3312Met)
|
rs746336789
|
0.00004
|
NM_024782.3(NHEJ1):c.299T>C (p.Val100Ala)
|
rs201186145
|
0.00004
|
NM_206937.2(LIG4):c.*781A>G
|
rs944422798
|
0.00004
|
NM_206937.2(LIG4):c.1208T>C (p.Val403Ala)
|
rs779305286
|
0.00004
|
NM_206937.2(LIG4):c.1560G>A (p.Leu520=)
|
rs756164120
|
0.00004
|
NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn)
|
rs552242241
|
0.00004
|
NM_206937.2(LIG4):c.1831G>A (p.Ala611Thr)
|
rs187323251
|
0.00004
|
NM_206937.2(LIG4):c.1855G>A (p.Gly619Ser)
|
rs146381209
|
0.00004
|
NM_206937.2(LIG4):c.2146A>G (p.Asn716Asp)
|
rs377032117
|
0.00004
|
NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys)
|
rs375437614
|
0.00004
|
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu)
|
rs141441003
|
0.00004
|
NM_206937.2(LIG4):c.2467T>C (p.Tyr823His)
|
rs376657998
|
0.00004
|
NM_206937.2(LIG4):c.2690C>G (p.Ser897Ter)
|
rs750080610
|
0.00004
|
NM_206937.2(LIG4):c.34T>A (p.Ser12Thr)
|
rs554949695
|
0.00004
|
NM_206937.2(LIG4):c.592G>A (p.Val198Ile)
|
rs151152559
|
0.00004
|
NM_206937.2(LIG4):c.607A>G (p.Ile203Val)
|
rs778278351
|
0.00004
|
NM_206937.2(LIG4):c.834T>C (p.Arg278=)
|
rs375022046
|
0.00004
|
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr)
|
rs376108062
|
0.00004
|
NM_000022.4(ADA):c.1065T>C (p.Pro355=)
|
rs371814756
|
0.00003
|
NM_000022.4(ADA):c.1079-7C>T
|
rs551934402
|
0.00003
|
NM_000022.4(ADA):c.227G>A (p.Arg76Gln)
|
rs374983783
|
0.00003
|
NM_000022.4(ADA):c.362+4A>G
|
rs370857405
|
0.00003
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000022.4(ADA):c.508A>G (p.Lys170Glu)
|
rs371134570
|
0.00003
|
NM_000022.4(ADA):c.578T>A (p.Leu193His)
|
rs767083081
|
0.00003
|
NM_000022.4(ADA):c.622G>A (p.Gly208Ser)
|
rs761846813
|
0.00003
|
NM_000022.4(ADA):c.684G>A (p.Val228=)
|
rs1047697626
|
0.00003
|
NM_000022.4(ADA):c.6C>T (p.Ala2=)
|
rs767788896
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000022.4(ADA):c.739G>A (p.Ala247Thr)
|
rs754578956
|
0.00003
|
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG
|
rs781605283
|
0.00003
|
NM_000022.4(ADA):c.873G>A (p.Ser291=)
|
rs143236074
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys)
|
rs759080719
|
0.00003
|
NM_000022.4(ADA):c.976-4C>T
|
rs757375351
|
0.00003
|
NM_000022.4(ADA):c.992A>C (p.Lys331Thr)
|
rs372131830
|
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.152A>T (p.Asp51Val)
|
rs147486240
|
0.00003
|
NM_000448.3(RAG1):c.1630C>A (p.Leu544Ile)
|
rs773829381
|
0.00003
|
NM_000448.3(RAG1):c.1809T>C (p.Asp603=)
|
rs763827932
|
0.00003
|
NM_000448.3(RAG1):c.1924A>C (p.Lys642Gln)
|
rs544726387
|
0.00003
|
NM_000448.3(RAG1):c.2245A>G (p.Ile749Val)
|
rs542851147
|
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.2426A>G (p.Lys809Arg)
|
rs773703055
|
0.00003
|
NM_000448.3(RAG1):c.2799A>G (p.Gly933=)
|
rs769375583
|
0.00003
|
NM_000448.3(RAG1):c.282C>T (p.Asn94=)
|
rs148700564
|
0.00003
|
NM_000448.3(RAG1):c.335G>A (p.Arg112His)
|
rs749223640
|
0.00003
|
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)
|
rs760746448
|
0.00003
|
NM_000448.3(RAG1):c.394C>T (p.Pro132Ser)
|
rs773742414
|
0.00003
|
NM_000448.3(RAG1):c.425G>A (p.Arg142Gln)
|
rs372110434
|
0.00003
|
NM_000448.3(RAG1):c.592A>C (p.Arg198=)
|
rs746425890
|
0.00003
|
NM_000448.3(RAG1):c.993C>T (p.Cys331=)
|
rs745645336
|
0.00003
|
NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys)
|
rs377569152
|
0.00003
|
NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys)
|
rs189020262
|
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_000536.4(RAG2):c.431T>C (p.Val144Ala)
|
rs1851090348
|
0.00003
|
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)
|
rs751073669
|
0.00003
|
NM_001033855.3(DCLRE1C):c.*1452G>A
|
rs537383684
|
0.00003
|
NM_001033855.3(DCLRE1C):c.*915G>A
|
rs886046837
|
0.00003
|
NM_001033855.3(DCLRE1C):c.109+1G>T
|
rs143144732
|
0.00003
|
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile)
|
rs770043960
|
0.00003
|
NM_001033855.3(DCLRE1C):c.1317G>C (p.Glu439Asp)
|
rs755790137
|
0.00003
|
NM_001033855.3(DCLRE1C):c.1710T>C (p.Ile570=)
|
rs147993236
|
0.00003
|
NM_001033855.3(DCLRE1C):c.177A>G (p.Leu59=)
|
rs781185211
|
0.00003
|
NM_001033855.3(DCLRE1C):c.1812T>C (p.Asp604=)
|
rs749027910
|
0.00003
|
NM_001033855.3(DCLRE1C):c.1883C>G (p.Thr628Arg)
|
rs140306936
|
0.00003
|
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
|
rs121908156
|
0.00003
|
NM_001033855.3(DCLRE1C):c.246+15T>C
|
rs781019003
|
0.00003
|
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu)
|
rs746658739
|
0.00003
|
NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr)
|
rs762266339
|
0.00003
|
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His)
|
rs143949881
|
0.00003
|
NM_001033855.3(DCLRE1C):c.498T>C (p.Thr166=)
|
rs756168646
|
0.00003
|
NM_001033855.3(DCLRE1C):c.567G>A (p.Leu189=)
|
rs1174888095
|
0.00003
|
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln)
|
rs528699445
|
0.00003
|
NM_001033855.3(DCLRE1C):c.624G>A (p.Ala208=)
|
rs770874430
|
0.00003
|
NM_001033855.3(DCLRE1C):c.678+8G>A
|
rs920315432
|
0.00003
|
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile)
|
rs374596045
|
0.00003
|
NM_001033855.3(DCLRE1C):c.780+4C>T
|
rs769782951
|
0.00003
|
NM_001033855.3(DCLRE1C):c.780+7G>A
|
rs373071122
|
0.00003
|
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=)
|
rs764386986
|
0.00003
|
NM_001033855.3(DCLRE1C):c.873C>T (p.Thr291=)
|
rs776618461
|
0.00003
|
NM_001033855.3(DCLRE1C):c.917+7G>C
|
rs769082661
|
0.00003
|
NM_001033855.3(DCLRE1C):c.945T>C (p.Cys315=)
|
rs747818099
|
0.00003
|
NM_001625.4(AK2):c.25G>A (p.Glu9Lys)
|
rs267606647
|
0.00003
|
NM_001625.4(AK2):c.438C>T (p.Pro146=)
|
rs987764285
|
0.00003
|
NM_001625.4(AK2):c.498+1G>A
|
rs777503956
|
0.00003
|
NM_001625.4(AK2):c.499-8G>T
|
rs752613147
|
0.00003
|
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)
|
rs267606645
|
0.00003
|
NM_001625.4(AK2):c.557G>A (p.Arg186His)
|
rs754485826
|
0.00003
|
NM_001625.4(AK2):c.670C>G (p.Leu224Val)
|
rs771562640
|
0.00003
|
NM_001625.4(AK2):c.93+17G>A
|
rs779763748
|
0.00003
|
NM_002872.5(RAC2):c.226-18C>T
|
rs776743351
|
0.00003
|
NM_002872.5(RAC2):c.561C>T (p.Arg187=)
|
rs201536161
|
0.00003
|
NM_005356.5(LCK):c.1308C>T (p.His436=)
|
rs201599151
|
0.00003
|
NM_005356.5(LCK):c.160T>G (p.Ser54Ala)
|
rs540222297
|
0.00003
|
NM_005356.5(LCK):c.560A>G (p.Asp187Gly)
|
rs767406314
|
0.00003
|
NM_005356.5(LCK):c.632-5C>T
|
rs561082283
|
0.00003
|
NM_006904.7(PRKDC):c.10196C>T (p.Pro3399Leu)
|
rs751076981
|
0.00003
|
NM_006904.7(PRKDC):c.10273C>T (p.Arg3425Cys)
|
rs1160174249
|
0.00003
|
NM_006904.7(PRKDC):c.10291G>T (p.Ala3431Ser)
|
rs150904393
|
0.00003
|
NM_006904.7(PRKDC):c.10758+13C>T
|
rs529169274
|
0.00003
|
NM_006904.7(PRKDC):c.1131C>T (p.Asn377=)
|
rs1287171364
|
0.00003
|
NM_006904.7(PRKDC):c.11466A>C (p.Gln3822His)
|
rs758559627
|
0.00003
|
NM_006904.7(PRKDC):c.11584G>A (p.Ala3862Thr)
|
rs568709506
|
0.00003
|
NM_006904.7(PRKDC):c.11697G>A (p.Ala3899=)
|
rs755396236
|
0.00003
|
NM_006904.7(PRKDC):c.11853+19C>T
|
rs769455587
|
0.00003
|
NM_006904.7(PRKDC):c.11853+20G>A
|
rs372929148
|
0.00003
|
NM_006904.7(PRKDC):c.11931G>A (p.Thr3977=)
|
rs779462589
|
0.00003
|
NM_006904.7(PRKDC):c.12043-17A>C
|
rs749779206
|
0.00003
|
NM_006904.7(PRKDC):c.12252C>T (p.Ser4084=)
|
rs906731404
|
0.00003
|
NM_006904.7(PRKDC):c.1480C>G (p.Pro494Ala)
|
rs771708028
|
0.00003
|
NM_006904.7(PRKDC):c.1777-14A>G
|
rs377123521
|
0.00003
|
NM_006904.7(PRKDC):c.1809C>T (p.Ile603=)
|
rs182027303
|
0.00003
|
NM_006904.7(PRKDC):c.1843G>A (p.Ala615Thr)
|
rs536246703
|
0.00003
|
NM_006904.7(PRKDC):c.1971T>C (p.Ser657=)
|
rs766026632
|
0.00003
|
NM_006904.7(PRKDC):c.2028T>A (p.Asn676Lys)
|
rs772021510
|
0.00003
|
NM_006904.7(PRKDC):c.20G>C (p.Gly7Ala)
|
rs764675406
|
0.00003
|
NM_006904.7(PRKDC):c.223A>G (p.Ser75Gly)
|
rs1490477360
|
0.00003
|
NM_006904.7(PRKDC):c.2260-17T>C
|
rs56408166
|
0.00003
|
NM_006904.7(PRKDC):c.2495A>G (p.Lys832Arg)
|
rs1360824795
|
0.00003
|
NM_006904.7(PRKDC):c.2899C>A (p.Pro967Thr)
|
rs773103276
|
0.00003
|
NM_006904.7(PRKDC):c.3045T>C (p.Asp1015=)
|
rs187813872
|
0.00003
|
NM_006904.7(PRKDC):c.3132A>T (p.Ile1044=)
|
rs372899418
|
0.00003
|
NM_006904.7(PRKDC):c.3291A>G (p.Glu1097=)
|
rs777011475
|
0.00003
|
NM_006904.7(PRKDC):c.3731T>C (p.Leu1244Pro)
|
rs370106149
|
0.00003
|
NM_006904.7(PRKDC):c.3787G>A (p.Ala1263Thr)
|
rs773505432
|
0.00003
|
NM_006904.7(PRKDC):c.3816C>T (p.Gly1272=)
|
rs566383990
|
0.00003
|
NM_006904.7(PRKDC):c.3848-7C>T
|
rs747769454
|
0.00003
|
NM_006904.7(PRKDC):c.4320C>T (p.Asp1440=)
|
rs1299478573
|
0.00003
|
NM_006904.7(PRKDC):c.4322C>T (p.Ala1441Val)
|
rs371177523
|
0.00003
|
NM_006904.7(PRKDC):c.4390C>G (p.Leu1464Val)
|
rs1230313108
|
0.00003
|
NM_006904.7(PRKDC):c.4647C>T (p.Ser1549=)
|
rs989824230
|
0.00003
|
NM_006904.7(PRKDC):c.4742A>C (p.Glu1581Ala)
|
rs555783723
|
0.00003
|
NM_006904.7(PRKDC):c.4861A>G (p.Thr1621Ala)
|
rs370593598
|
0.00003
|
NM_006904.7(PRKDC):c.5204G>A (p.Arg1735Gln)
|
rs756568122
|
0.00003
|
NM_006904.7(PRKDC):c.5533G>T (p.Val1845Leu)
|
rs749630133
|
0.00003
|
NM_006904.7(PRKDC):c.5818T>C (p.Tyr1940His)
|
rs780953775
|
0.00003
|
NM_006904.7(PRKDC):c.6208-4G>A
|
rs536722859
|
0.00003
|
NM_006904.7(PRKDC):c.6810C>T (p.Asn2270=)
|
rs751232985
|
0.00003
|
NM_006904.7(PRKDC):c.7532T>C (p.Ile2511Thr)
|
rs200452131
|
0.00003
|
NM_006904.7(PRKDC):c.764C>T (p.Ala255Val)
|
rs200282483
|
0.00003
|
NM_006904.7(PRKDC):c.7694T>A (p.Met2565Lys)
|
rs377580880
|
0.00003
|
NM_006904.7(PRKDC):c.7731C>T (p.Phe2577=)
|
rs754766347
|
0.00003
|
NM_006904.7(PRKDC):c.7855C>T (p.Arg2619Cys)
|
rs371346677
|
0.00003
|
NM_006904.7(PRKDC):c.7882C>T (p.Arg2628Cys)
|
rs970509708
|
0.00003
|
NM_006904.7(PRKDC):c.7935A>G (p.Thr2645=)
|
rs767431572
|
0.00003
|
NM_006904.7(PRKDC):c.8031C>T (p.Ser2677=)
|
rs1221629267
|
0.00003
|
NM_006904.7(PRKDC):c.8173C>G (p.Leu2725Val)
|
rs766994936
|
0.00003
|
NM_006904.7(PRKDC):c.9112-5C>T
|
rs1011493641
|
0.00003
|
NM_006904.7(PRKDC):c.9336+20A>G
|
rs1438755115
|
0.00003
|
NM_006904.7(PRKDC):c.9439A>G (p.Lys3147Glu)
|
rs781530600
|
0.00003
|
NM_006904.7(PRKDC):c.9740G>A (p.Arg3247Gln)
|
rs770622309
|
0.00003
|
NM_006904.7(PRKDC):c.983C>T (p.Ala328Val)
|
rs769059077
|
0.00003
|
NM_024782.3(NHEJ1):c.172G>T (p.Ala58Ser)
|
rs142684479
|
0.00003
|
NM_024782.3(NHEJ1):c.441G>A (p.Gln147=)
|
rs202229437
|
0.00003
|
NM_024782.3(NHEJ1):c.468A>G (p.Leu156=)
|
rs768115441
|
0.00003
|
NM_138787.4(IFTAP):c.-24+3633T>G
|
rs886048273
|
0.00003
|
NM_206937.2(LIG4):c.1061T>C (p.Met354Thr)
|
rs780950741
|
0.00003
|
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe)
|
rs144322912
|
0.00003
|
NM_206937.2(LIG4):c.1791C>T (p.Asp597=)
|
rs144253952
|
0.00003
|
NM_206937.2(LIG4):c.1859A>G (p.Asp620Gly)
|
rs748989188
|
0.00003
|
NM_206937.2(LIG4):c.1954G>A (p.Val652Ile)
|
rs754457967
|
0.00003
|
NM_206937.2(LIG4):c.2044A>C (p.Ile682Leu)
|
rs375816915
|
0.00003
|
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)
|
rs529756815
|
0.00003
|
NM_206937.2(LIG4):c.2284G>A (p.Gly762Ser)
|
rs751782058
|
0.00003
|
NM_206937.2(LIG4):c.2355C>T (p.Asn785=)
|
rs148223505
|
0.00003
|
NM_206937.2(LIG4):c.2499T>C (p.Asn833=)
|
rs769297575
|
0.00003
|
NM_206937.2(LIG4):c.2586T>A (p.His862Gln)
|
rs201115578
|
0.00003
|
NM_206937.2(LIG4):c.293A>G (p.Asn98Ser)
|
rs143897303
|
0.00003
|
NM_206937.2(LIG4):c.959A>G (p.Lys320Arg)
|
rs757762017
|
0.00003
|
NM_000022.4(ADA):c.*162G>A
|
rs901060573
|
0.00002
|
NM_000022.4(ADA):c.1032C>T (p.Leu344=)
|
rs746337420
|
0.00002
|
NM_000022.4(ADA):c.111C>T (p.Ala37=)
|
rs374029074
|
0.00002
|
NM_000022.4(ADA):c.144C>T (p.Asn48=)
|
rs189751145
|
0.00002
|
NM_000022.4(ADA):c.246C>T (p.Ile82=)
|
rs761045374
|
0.00002
|
NM_000022.4(ADA):c.282C>T (p.Gly94=)
|
rs771207375
|
0.00002
|
NM_000022.4(ADA):c.283G>A (p.Val95Met)
|
rs145963969
|
0.00002
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.363-8T>G
|
rs1015455929
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.45T>C (p.His15=)
|
rs906269498
|
0.00002
|
NM_000022.4(ADA):c.471C>T (p.His157=)
|
rs752094197
|
0.00002
|
NM_000022.4(ADA):c.478+7A>G
|
rs750462837
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000022.4(ADA):c.608A>C (p.Glu203Ala)
|
rs200089190
|
0.00002
|
NM_000022.4(ADA):c.618G>T (p.Lys206Asn)
|
rs750364735
|
0.00002
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000022.4(ADA):c.781-12C>T
|
rs773016155
|
0.00002
|
NM_000022.4(ADA):c.781-9C>T
|
rs769511813
|
0.00002
|
NM_000022.4(ADA):c.831G>T (p.Glu277Asp)
|
rs542229902
|
0.00002
|
NM_000022.4(ADA):c.899T>G (p.Phe300Cys)
|
rs371305751
|
0.00002
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
NM_000022.4(ADA):c.932C>T (p.Thr311Ile)
|
rs773914135
|
0.00002
|
NM_000448.3(RAG1):c.*273G>C
|
rs144069419
|
0.00002
|
NM_000448.3(RAG1):c.*627A>G
|
rs1322490118
|
0.00002
|
NM_000448.3(RAG1):c.1160T>C (p.Val387Ala)
|
rs771237578
|
0.00002
|
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)
|
rs104894289
|
0.00002
|
NM_000448.3(RAG1):c.1202C>T (p.Ser401Leu)
|
rs1385203770
|
0.00002
|
NM_000448.3(RAG1):c.1236G>A (p.Arg412=)
|
rs373408080
|
0.00002
|
NM_000448.3(RAG1):c.1256A>G (p.Lys419Arg)
|
rs780974569
|
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.1907A>G (p.His636Arg)
|
rs909682682
|
0.00002
|
NM_000448.3(RAG1):c.193G>T (p.Val65Phe)
|
rs750032999
|
0.00002
|
NM_000448.3(RAG1):c.1981_1983del (p.Met661del)
|
rs774103837
|
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.258G>A (p.Lys86=)
|
rs755158171
|
0.00002
|
NM_000448.3(RAG1):c.319C>G (p.Leu107Val)
|
rs144019501
|
0.00002
|
NM_000448.3(RAG1):c.323G>A (p.Arg108Gln)
|
rs748211230
|
0.00002
|
NM_000448.3(RAG1):c.378A>G (p.Arg126=)
|
rs748499180
|
0.00002
|
NM_000448.3(RAG1):c.455C>T (p.Pro152Leu)
|
rs763843831
|
0.00002
|
NM_000448.3(RAG1):c.471G>T (p.Lys157Asn)
|
rs751582511
|
0.00002
|
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)
|
rs149229197
|
0.00002
|
NM_000448.3(RAG1):c.750G>A (p.Lys250=)
|
rs1295860140
|
0.00002
|
NM_000536.4(RAG2):c.*348C>G
|
rs901433887
|
0.00002
|
NM_000536.4(RAG2):c.1029C>T (p.Phe343=)
|
rs747177680
|
0.00002
|
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly)
|
rs753730066
|
0.00002
|
NM_000536.4(RAG2):c.1191T>C (p.Asp397=)
|
rs752248630
|
0.00002
|
NM_000536.4(RAG2):c.119C>A (p.Ser40Tyr)
|
rs762460908
|
0.00002
|
NM_000536.4(RAG2):c.133G>A (p.Val45Ile)
|
rs770312622
|
0.00002
|
NM_000536.4(RAG2):c.140A>T (p.His47Leu)
|
rs776913146
|
0.00002
|
NM_000536.4(RAG2):c.141T>G (p.His47Gln)
|
rs768914369
|
0.00002
|
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter)
|
rs373151027
|
0.00002
|
NM_000536.4(RAG2):c.174G>A (p.Lys58=)
|
rs202020106
|
0.00002
|
NM_000536.4(RAG2):c.218G>A (p.Arg73His)
|
rs762407838
|
0.00002
|
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg)
|
rs777051349
|
0.00002
|
NM_000536.4(RAG2):c.296C>G (p.Pro99Arg)
|
rs747968724
|
0.00002
|
NM_000536.4(RAG2):c.326T>A (p.Val109Asp)
|
rs201258007
|
0.00002
|
NM_000536.4(RAG2):c.583T>C (p.Tyr195His)
|
rs1479328926
|
0.00002
|
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser)
|
rs368935791
|
0.00002
|
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly)
|
rs757524729
|
0.00002
|
NM_001033855.3(DCLRE1C):c.*238A>C
|
rs80156707
|
0.00002
|
NM_001033855.3(DCLRE1C):c.*506G>A
|
rs1205017687
|
0.00002
|
NM_001033855.3(DCLRE1C):c.*540A>G
|
rs886046841
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1024A>G (p.Ile342Val)
|
rs759789901
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1048A>G (p.Lys350Glu)
|
rs146859738
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1056C>T (p.Val352=)
|
rs765407675
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln)
|
rs377694988
|
0.00002
|
NM_001033855.3(DCLRE1C):c.110-7T>G
|
rs930637788
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1195A>G (p.Ile399Val)
|
rs759039414
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
|
rs532892332
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1288A>G (p.Arg430Gly)
|
rs1459486949
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1313C>T (p.Ala438Val)
|
rs766009897
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys)
|
rs774273800
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1565T>C (p.Phe522Ser)
|
rs1482857000
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser)
|
rs769187936
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met)
|
rs751811224
|
0.00002
|
NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser)
|
rs754829084
|
0.00002
|
NM_001033855.3(DCLRE1C):c.261C>T (p.Ile87=)
|
rs191086777
|
0.00002
|
NM_001033855.3(DCLRE1C):c.309G>A (p.Lys103=)
|
rs543139301
|
0.00002
|
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)
|
rs757316102
|
0.00002
|
NM_001033855.3(DCLRE1C):c.405A>G (p.Gly135=)
|
rs375688593
|
0.00002
|
NM_001033855.3(DCLRE1C):c.448C>T (p.Leu150=)
|
rs1201104303
|
0.00002
|
NM_001033855.3(DCLRE1C):c.464+13G>A
|
rs373522931
|
0.00002
|
NM_001033855.3(DCLRE1C):c.486A>G (p.Val162=)
|
rs376612807
|
0.00002
|
NM_001033855.3(DCLRE1C):c.558C>G (p.Val186=)
|
rs757296480
|
0.00002
|
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly)
|
rs1252776122
|
0.00002
|
NM_001033855.3(DCLRE1C):c.597C>T (p.Tyr199=)
|
rs121908157
|
0.00002
|
NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala)
|
rs1056674146
|
0.00002
|
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala)
|
rs756395955
|
0.00002
|
NM_001033855.3(DCLRE1C):c.771G>A (p.Arg257=)
|
rs983929092
|
0.00002
|
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=)
|
rs181619477
|
0.00002
|
NM_001033855.3(DCLRE1C):c.972+13C>T
|
rs184413831
|
0.00002
|
NM_001625.4(AK2):c.331-11T>C
|
rs184410375
|
0.00002
|
NM_001625.4(AK2):c.470A>G (p.Asn157Ser)
|
rs371672441
|
0.00002
|
NM_001625.4(AK2):c.498C>T (p.Asp166=)
|
rs747101216
|
0.00002
|
NM_001625.4(AK2):c.57G>A (p.Val19=)
|
rs371268140
|
0.00002
|
NM_001625.4(AK2):c.638C>A (p.Ser213Tyr)
|
rs139238739
|
0.00002
|
NM_001625.4(AK2):c.710T>C (p.Met237Thr)
|
rs752903099
|
0.00002
|
NM_001625.4(AK2):c.94G>A (p.Ala32Thr)
|
rs779260498
|
0.00002
|
NM_002872.5(RAC2):c.192C>T (p.Tyr64=)
|
rs772302068
|
0.00002
|
NM_002872.5(RAC2):c.229G>A (p.Val77Ile)
|
rs578052035
|
0.00002
|
NM_002872.5(RAC2):c.276C>T (p.Asn92=)
|
rs768931430
|
0.00002
|
NM_002872.5(RAC2):c.281G>A (p.Arg94His)
|
rs780585104
|
0.00002
|
NM_002872.5(RAC2):c.525C>T (p.Ala175=)
|
rs575699146
|
0.00002
|
NM_002872.5(RAC2):c.548G>A (p.Arg183Gln)
|
rs770795800
|
0.00002
|
NM_002872.5(RAC2):c.560G>A (p.Arg187His)
|
rs1489649391
|
0.00002
|
NM_005356.5(LCK):c.1134C>T (p.Cys378=)
|
rs756217211
|
0.00002
|
NM_005356.5(LCK):c.1153C>T (p.Leu385=)
|
rs145374851
|
0.00002
|
NM_005356.5(LCK):c.1190G>C (p.Arg397Thr)
|
rs146452317
|
0.00002
|
NM_005356.5(LCK):c.1449C>T (p.Asp483=)
|
rs542519367
|
0.00002
|
NM_005356.5(LCK):c.504G>A (p.Arg168=)
|
rs764228746
|
0.00002
|
NM_005356.5(LCK):c.559G>A (p.Asp187Asn)
|
rs539280346
|
0.00002
|
NM_005356.5(LCK):c.834C>T (p.Gly278=)
|
rs767538878
|
0.00002
|
NM_005356.5(LCK):c.912C>T (p.Tyr304=)
|
rs550191357
|
0.00002
|
NM_006904.7(PRKDC):c.10013C>T (p.Ala3338Val)
|
rs576578016
|
0.00002
|
NM_006904.7(PRKDC):c.100C>T (p.Leu34=)
|
rs768449225
|
0.00002
|
NM_006904.7(PRKDC):c.10671-7T>A
|
rs757281051
|
0.00002
|
NM_006904.7(PRKDC):c.10796C>G (p.Thr3599Ser)
|
rs147753989
|
0.00002
|
NM_006904.7(PRKDC):c.1086T>C (p.Ala362=)
|
rs747469563
|
0.00002
|
NM_006904.7(PRKDC):c.1087A>G (p.Ile363Val)
|
rs775940255
|
0.00002
|
NM_006904.7(PRKDC):c.1115C>T (p.Pro372Leu)
|
rs778630373
|
0.00002
|
NM_006904.7(PRKDC):c.1116G>A (p.Pro372=)
|
rs369975253
|
0.00002
|
NM_006904.7(PRKDC):c.11396+18C>T
|
rs1475968091
|
0.00002
|
NM_006904.7(PRKDC):c.1151T>C (p.Met384Thr)
|
rs375391499
|
0.00002
|
NM_006904.7(PRKDC):c.11606C>T (p.Thr3869Met)
|
rs550306617
|
0.00002
|
NM_006904.7(PRKDC):c.11814C>T (p.Ile3938=)
|
rs750761283
|
0.00002
|
NM_006904.7(PRKDC):c.11954T>C (p.Val3985Ala)
|
rs1370766129
|
0.00002
|
NM_006904.7(PRKDC):c.12292C>A (p.Leu4098Ile)
|
rs1323956173
|
0.00002
|
NM_006904.7(PRKDC):c.1236C>T (p.Ser412=)
|
rs371084198
|
0.00002
|
NM_006904.7(PRKDC):c.1257C>T (p.Ser419=)
|
rs752166512
|
0.00002
|
NM_006904.7(PRKDC):c.1337T>A (p.Phe446Tyr)
|
rs534735519
|
0.00002
|
NM_006904.7(PRKDC):c.1465A>C (p.Arg489=)
|
rs1283991208
|
0.00002
|
NM_006904.7(PRKDC):c.154+10G>T
|
rs1171518721
|
0.00002
|
NM_006904.7(PRKDC):c.1646C>T (p.Ala549Val)
|
rs370809936
|
0.00002
|
NM_006904.7(PRKDC):c.1713C>T (p.Ser571=)
|
rs373088662
|
0.00002
|
NM_006904.7(PRKDC):c.1791G>A (p.Ala597=)
|
rs8178032
|
0.00002
|
NM_006904.7(PRKDC):c.1893-10G>T
|
rs759945659
|
0.00002
|
NM_006904.7(PRKDC):c.2217C>T (p.Asn739=)
|
rs756276640
|
0.00002
|
NM_006904.7(PRKDC):c.2420-15G>A
|
rs543839340
|
0.00002
|
NM_006904.7(PRKDC):c.2599A>C (p.Asn867His)
|
rs758007075
|
0.00002
|
NM_006904.7(PRKDC):c.2638A>G (p.Met880Val)
|
rs778352505
|
0.00002
|
NM_006904.7(PRKDC):c.2672G>A (p.Arg891Gln)
|
rs967514465
|
0.00002
|
NM_006904.7(PRKDC):c.2890C>T (p.Arg964Trp)
|
rs755012997
|
0.00002
|
NM_006904.7(PRKDC):c.2979C>T (p.His993=)
|
rs55778266
|
0.00002
|
NM_006904.7(PRKDC):c.3037A>G (p.Ile1013Val)
|
rs778889493
|
0.00002
|
NM_006904.7(PRKDC):c.3464+4G>A
|
rs758498140
|
0.00002
|
NM_006904.7(PRKDC):c.3527G>C (p.Cys1176Ser)
|
rs780337745
|
0.00002
|
NM_006904.7(PRKDC):c.3693G>T (p.Gln1231His)
|
rs1227700132
|
0.00002
|
NM_006904.7(PRKDC):c.3821G>T (p.Arg1274Ile)
|
rs755695539
|
0.00002
|
NM_006904.7(PRKDC):c.394A>C (p.Ile132Leu)
|
rs746211660
|
0.00002
|
NM_006904.7(PRKDC):c.4138G>A (p.Ala1380Thr)
|
rs56209904
|
0.00002
|
NM_006904.7(PRKDC):c.4300G>A (p.Val1434Ile)
|
rs538368415
|
0.00002
|
NM_006904.7(PRKDC):c.4314C>T (p.Gly1438=)
|
rs771018937
|
0.00002
|
NM_006904.7(PRKDC):c.4392G>T (p.Leu1464=)
|
rs1266545130
|
0.00002
|
NM_006904.7(PRKDC):c.4413+15T>C
|
rs768782547
|
0.00002
|
NM_006904.7(PRKDC):c.4572+20A>G
|
rs752030164
|
0.00002
|
NM_006904.7(PRKDC):c.4630G>A (p.Gly1544Ser)
|
rs746489977
|
0.00002
|
NM_006904.7(PRKDC):c.4883A>T (p.Lys1628Met)
|
rs748474858
|
0.00002
|
NM_006904.7(PRKDC):c.4907A>G (p.Asp1636Gly)
|
rs768811819
|
0.00002
|
NM_006904.7(PRKDC):c.4917C>T (p.Leu1639=)
|
rs529999429
|
0.00002
|
NM_006904.7(PRKDC):c.4997G>T (p.Gly1666Val)
|
rs912660835
|
0.00002
|
NM_006904.7(PRKDC):c.5067+14_5067+15insCA
|
rs767743293
|
0.00002
|
NM_006904.7(PRKDC):c.5162A>G (p.His1721Arg)
|
rs745483541
|
0.00002
|
NM_006904.7(PRKDC):c.5202G>A (p.Pro1734=)
|
rs774534796
|
0.00002
|
NM_006904.7(PRKDC):c.5269A>G (p.Met1757Val)
|
rs376292677
|
0.00002
|
NM_006904.7(PRKDC):c.5438G>A (p.Ser1813Asn)
|
rs780655230
|
0.00002
|
NM_006904.7(PRKDC):c.5467T>A (p.Ser1823Thr)
|
rs1228013096
|
0.00002
|
NM_006904.7(PRKDC):c.5537A>T (p.Asp1846Val)
|
rs776141589
|
0.00002
|
NM_006904.7(PRKDC):c.5634C>T (p.Asp1878=)
|
rs769989316
|
0.00002
|
NM_006904.7(PRKDC):c.57G>A (p.Leu19=)
|
rs1224820621
|
0.00002
|
NM_006904.7(PRKDC):c.5845A>G (p.Ile1949Val)
|
rs56083215
|
0.00002
|
NM_006904.7(PRKDC):c.5927T>G (p.Leu1976Arg)
|
rs1255595740
|
0.00002
|
NM_006904.7(PRKDC):c.5959C>T (p.Arg1987Cys)
|
rs769796242
|
0.00002
|
NM_006904.7(PRKDC):c.6135C>T (p.Phe2045=)
|
rs781184930
|
0.00002
|
NM_006904.7(PRKDC):c.6199C>T (p.Arg2067Trp)
|
rs370153408
|
0.00002
|
NM_006904.7(PRKDC):c.6208-5C>T
|
rs754905856
|
0.00002
|
NM_006904.7(PRKDC):c.6224C>T (p.Thr2075Met)
|
rs769896993
|
0.00002
|
NM_006904.7(PRKDC):c.6390T>C (p.His2130=)
|
rs750781973
|
0.00002
|
NM_006904.7(PRKDC):c.6459A>C (p.Thr2153=)
|
rs1015672207
|
0.00002
|
NM_006904.7(PRKDC):c.6472C>T (p.Arg2158Cys)
|
rs1478302176
|
0.00002
|
NM_006904.7(PRKDC):c.6483G>A (p.Ala2161=)
|
rs761604517
|
0.00002
|
NM_006904.7(PRKDC):c.6553A>G (p.Met2185Val)
|
rs754219190
|
0.00002
|
NM_006904.7(PRKDC):c.6609+10G>A
|
rs760338785
|
0.00002
|
NM_006904.7(PRKDC):c.6762-20C>T
|
rs769089352
|
0.00002
|
NM_006904.7(PRKDC):c.6863A>G (p.Tyr2288Cys)
|
rs745998661
|
0.00002
|
NM_006904.7(PRKDC):c.7063A>G (p.Thr2355Ala)
|
rs765234329
|
0.00002
|
NM_006904.7(PRKDC):c.7066A>G (p.Met2356Val)
|
rs761890833
|
0.00002
|
NM_006904.7(PRKDC):c.7331C>T (p.Pro2444Leu)
|
rs749527505
|
0.00002
|
NM_006904.7(PRKDC):c.7414C>G (p.Gln2472Glu)
|
rs368762969
|
0.00002
|
NM_006904.7(PRKDC):c.7782T>C (p.Asp2594=)
|
rs373960418
|
0.00002
|
NM_006904.7(PRKDC):c.7856G>A (p.Arg2619His)
|
rs138740003
|
0.00002
|
NM_006904.7(PRKDC):c.7914C>T (p.Thr2638=)
|
rs1315268731
|
0.00002
|
NM_006904.7(PRKDC):c.7930T>C (p.Phe2644Leu)
|
rs368704791
|
0.00002
|
NM_006904.7(PRKDC):c.794A>G (p.Tyr265Cys)
|
rs745341885
|
0.00002
|
NM_006904.7(PRKDC):c.7997C>T (p.Pro2666Leu)
|
rs779687004
|
0.00002
|
NM_006904.7(PRKDC):c.8104A>G (p.Lys2702Glu)
|
rs8178178
|
0.00002
|
NM_006904.7(PRKDC):c.8258G>A (p.Arg2753Gln)
|
rs138760849
|
0.00002
|
NM_006904.7(PRKDC):c.8268A>C (p.Glu2756Asp)
|
rs751107248
|
0.00002
|
NM_006904.7(PRKDC):c.8397+13C>T
|
rs1417338907
|
0.00002
|
NM_006904.7(PRKDC):c.8679A>G (p.Leu2893=)
|
rs948954480
|
0.00002
|
NM_006904.7(PRKDC):c.8808C>T (p.Tyr2936=)
|
rs973566532
|
0.00002
|
NM_006904.7(PRKDC):c.8833A>G (p.Ser2945Gly)
|
rs992305004
|
0.00002
|
NM_006904.7(PRKDC):c.8986C>T (p.Leu2996Phe)
|
rs544832472
|
0.00002
|
NM_006904.7(PRKDC):c.9227C>T (p.Ala3076Val)
|
rs370147042
|
0.00002
|
NM_006904.7(PRKDC):c.9337-7T>C
|
rs1309659735
|
0.00002
|
NM_006904.7(PRKDC):c.9558-17C>T
|
rs923291634
|
0.00002
|
NM_006904.7(PRKDC):c.9582G>A (p.Glu3194=)
|
rs761207059
|
0.00002
|
NM_006904.7(PRKDC):c.9724A>G (p.Met3242Val)
|
rs775383563
|
0.00002
|
NM_024782.3(NHEJ1):c.326G>A (p.Arg109Gln)
|
rs777365329
|
0.00002
|
NM_024782.3(NHEJ1):c.448G>A (p.Val150Met)
|
rs758387082
|
0.00002
|
NM_024782.3(NHEJ1):c.465G>A (p.Thr155=)
|
rs374664084
|
0.00002
|
NM_024782.3(NHEJ1):c.533G>A (p.Arg178Gln)
|
rs1949744959
|
0.00002
|
NM_024782.3(NHEJ1):c.743G>C (p.Gly248Ala)
|
rs199723096
|
0.00002
|
NM_206937.2(LIG4):c.*291A>G
|
rs1033897436
|
0.00002
|
NM_206937.2(LIG4):c.*352A>C
|
rs886049944
|
0.00002
|
NM_206937.2(LIG4):c.1065A>G (p.Val355=)
|
rs754614183
|
0.00002
|
NM_206937.2(LIG4):c.1252T>C (p.Leu418=)
|
rs147181971
|
0.00002
|
NM_206937.2(LIG4):c.1458A>G (p.Ala486=)
|
rs1422541942
|
0.00002
|
NM_206937.2(LIG4):c.1513C>T (p.Arg505Cys)
|
rs375284799
|
0.00002
|
NM_206937.2(LIG4):c.1639G>A (p.Val547Ile)
|
rs774811336
|
0.00002
|
NM_206937.2(LIG4):c.1692C>T (p.Ile564=)
|
rs750170673
|
0.00002
|
NM_206937.2(LIG4):c.1751T>C (p.Ile584Thr)
|
rs758274439
|
0.00002
|
NM_206937.2(LIG4):c.1792G>A (p.Asp598Asn)
|
rs372708277
|
0.00002
|
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
|
rs764483419
|
0.00002
|
NM_206937.2(LIG4):c.2119A>T (p.Ile707Phe)
|
rs370991186
|
0.00002
|
NM_206937.2(LIG4):c.2267G>A (p.Arg756His)
|
rs147410837
|
0.00002
|
NM_206937.2(LIG4):c.2339G>A (p.Gly780Glu)
|
rs1029380670
|
0.00002
|
NM_206937.2(LIG4):c.2401T>G (p.Tyr801Asp)
|
rs758462531
|
0.00002
|
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg)
|
rs748716395
|
0.00002
|
NM_206937.2(LIG4):c.2445C>A (p.Arg815=)
|
rs755419375
|
0.00002
|
NM_206937.2(LIG4):c.2657T>A (p.Phe886Tyr)
|
rs142374894
|
0.00002
|
NM_206937.2(LIG4):c.437A>G (p.Gln146Arg)
|
rs754996739
|
0.00002
|
NM_206937.2(LIG4):c.526A>C (p.Thr176Pro)
|
rs1211502925
|
0.00002
|
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)
|
rs748385144
|
0.00002
|
NM_206937.2(LIG4):c.570C>T (p.Ile190=)
|
rs141102614
|
0.00002
|
NM_206937.2(LIG4):c.73C>T (p.Arg25Ter)
|
rs753883369
|
0.00002
|
NM_206937.2(LIG4):c.878G>A (p.Arg293Gln)
|
rs775560383
|
0.00002
|
NM_000022.4(ADA):c.*174T>A
|
rs886056706
|
0.00001
|
NM_000022.4(ADA):c.-28G>C
|
rs1186616350
|
0.00001
|
NM_000022.4(ADA):c.-67C>T
|
rs926706024
|
0.00001
|
NM_000022.4(ADA):c.1005C>G (p.Leu335=)
|
rs1455729635
|
0.00001
|
NM_000022.4(ADA):c.1008A>G (p.Pro336=)
|
rs762614678
|
0.00001
|
NM_000022.4(ADA):c.1044T>C (p.Tyr348=)
|
rs1320932911
|
0.00001
|
NM_000022.4(ADA):c.1078+7T>C
|
rs752992685
|
0.00001
|
NM_000022.4(ADA):c.1079-18C>T
|
rs762154117
|
0.00001
|
NM_000022.4(ADA):c.108C>T (p.Ile36=)
|
rs748611869
|
0.00001
|
NM_000022.4(ADA):c.117A>G (p.Pro39=)
|
rs747148184
|
0.00001
|
NM_000022.4(ADA):c.125C>G (p.Thr42Arg)
|
rs780318972
|
0.00001
|
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
|
rs1306348962
|
0.00001
|
NM_000022.4(ADA):c.149T>C (p.Ile50Thr)
|
rs1057460440
|
0.00001
|
NM_000022.4(ADA):c.186G>A (p.Leu62=)
|
rs767064067
|
0.00001
|
NM_000022.4(ADA):c.1A>G (p.Met1Val)
|
rs1363043396
|
0.00001
|
NM_000022.4(ADA):c.216C>T (p.Ile72=)
|
rs769218320
|
0.00001
|
NM_000022.4(ADA):c.217G>A (p.Ala73Thr)
|
rs921477673
|
0.00001
|
NM_000022.4(ADA):c.218+10C>T
|
rs372418784
|
0.00001
|
NM_000022.4(ADA):c.218+1G>A
|
rs528390681
|
0.00001
|
NM_000022.4(ADA):c.247G>A (p.Ala83Thr)
|
rs776103734
|
0.00001
|
NM_000022.4(ADA):c.251A>G (p.Tyr84Cys)
|
rs772021681
|
0.00001
|
NM_000022.4(ADA):c.286G>A (p.Val96Met)
|
rs1316605272
|
0.00001
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.312G>A (p.Pro104=)
|
rs765878819
|
0.00001
|
NM_000022.4(ADA):c.313C>T (p.His105Tyr)
|
rs201522960
|
0.00001
|
NM_000022.4(ADA):c.33+13G>C
|
rs762896507
|
0.00001
|
NM_000022.4(ADA):c.33+3G>A
|
rs774061553
|
0.00001
|
NM_000022.4(ADA):c.33+9G>T
|
rs770723333
|
0.00001
|
NM_000022.4(ADA):c.34-18C>T
|
rs754341978
|
0.00001
|
NM_000022.4(ADA):c.349T>C (p.Trp117Arg)
|
rs771162170
|
0.00001
|
NM_000022.4(ADA):c.363-12C>G
|
rs367574074
|
0.00001
|
NM_000022.4(ADA):c.363-16T>C
|
rs1314647942
|
0.00001
|
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
|
rs1233957241
|
0.00001
|
NM_000022.4(ADA):c.387G>A (p.Val129=)
|
rs1288730009
|
0.00001
|
NM_000022.4(ADA):c.420G>C (p.Gly140=)
|
rs1363673891
|
0.00001
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
NM_000022.4(ADA):c.432C>T (p.Phe144=)
|
rs374413123
|
0.00001
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
0.00001
|
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)
|
rs121908733
|
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.479-4A>G
|
rs78435059
|
0.00001
|
NM_000022.4(ADA):c.479-9C>T
|
rs761848284
|
0.00001
|
NM_000022.4(ADA):c.500A>G (p.Glu167Gly)
|
rs372671189
|
0.00001
|
NM_000022.4(ADA):c.504G>A (p.Leu168=)
|
rs759425144
|
0.00001
|
NM_000022.4(ADA):c.507T>C (p.Cys169=)
|
rs1784751932
|
0.00001
|
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)
|
rs121908727
|
0.00001
|
NM_000022.4(ADA):c.574A>G (p.Ser192Gly)
|
rs1246778030
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000022.4(ADA):c.606+9T>C
|
rs2065360149
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.639C>T (p.Val213=)
|
rs575603724
|
0.00001
|
NM_000022.4(ADA):c.645C>T (p.Ala215=)
|
rs748671151
|
0.00001
|
NM_000022.4(ADA):c.651G>A (p.Glu217=)
|
rs1163524809
|
0.00001
|
NM_000022.4(ADA):c.672A>G (p.Val224=)
|
rs753855163
|
0.00001
|
NM_000022.4(ADA):c.678+5G>C
|
rs763478578
|
0.00001
|
NM_000022.4(ADA):c.679-8C>T
|
rs886056707
|
0.00001
|
NM_000022.4(ADA):c.687C>A (p.Asp229Glu)
|
rs747172905
|
0.00001
|
NM_000022.4(ADA):c.699A>G (p.Thr233=)
|
rs1218317197
|
0.00001
|
NM_000022.4(ADA):c.777C>T (p.Phe259=)
|
rs772309012
|
0.00001
|
NM_000022.4(ADA):c.778G>A (p.Glu260Lys)
|
rs1235719506
|
0.00001
|
NM_000022.4(ADA):c.780+1G>A
|
rs746052951
|
0.00001
|
NM_000022.4(ADA):c.780+6C>T
|
rs774759287
|
0.00001
|
NM_000022.4(ADA):c.781-10G>A
|
rs1428296713
|
0.00001
|
NM_000022.4(ADA):c.781-4C>G
|
rs374812597
|
0.00001
|
NM_000022.4(ADA):c.828G>A (p.Thr276=)
|
rs1269140539
|
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_000022.4(ADA):c.902A>G (p.Lys301Arg)
|
rs1416109540
|
0.00001
|
NM_000022.4(ADA):c.935A>G (p.Lys312Arg)
|
rs748974674
|
0.00001
|
NM_000022.4(ADA):c.938G>A (p.Arg313Gln)
|
rs747500864
|
0.00001
|
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00001
|
NM_000022.4(ADA):c.942C>T (p.Asp314=)
|
rs1398609180
|
0.00001
|
NM_000022.4(ADA):c.944T>C (p.Met315Thr)
|
rs758501653
|
0.00001
|
NM_000448.3(RAG1):c.*1146C>T
|
rs1051248827
|
0.00001
|
NM_000448.3(RAG1):c.*1287T>C
|
rs1035645614
|
0.00001
|
NM_000448.3(RAG1):c.*1293G>C
|
rs1214769858
|
0.00001
|
NM_000448.3(RAG1):c.*1478C>T
|
rs898762722
|
0.00001
|
NM_000448.3(RAG1):c.*1767A>C
|
rs1183147057
|
0.00001
|
NM_000448.3(RAG1):c.*200C>T
|
rs886048256
|
0.00001
|
NM_000448.3(RAG1):c.*2012T>C
|
rs1475530896
|
0.00001
|
NM_000448.3(RAG1):c.*2289T>G
|
rs200013770
|
0.00001
|
NM_000448.3(RAG1):c.*2828G>A
|
rs1003540768
|
0.00001
|
NM_000448.3(RAG1):c.*344G>A
|
rs886048257
|
0.00001
|
NM_000448.3(RAG1):c.*47T>C
|
rs955448714
|
0.00001
|
NM_000448.3(RAG1):c.*709A>G
|
rs1203179556
|
0.00001
|
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)
|
rs1461508819
|
0.00001
|
NM_000448.3(RAG1):c.1123C>G (p.His375Asp)
|
rs773272902
|
0.00001
|
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val)
|
rs1554944856
|
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.1239G>A (p.Glu413=)
|
rs1850807745
|
0.00001
|
NM_000448.3(RAG1):c.124C>T (p.Pro42Ser)
|
rs1338238826
|
0.00001
|
NM_000448.3(RAG1):c.1260C>T (p.Ala420=)
|
rs549588944
|
0.00001
|
NM_000448.3(RAG1):c.1266T>A (p.Ala422=)
|
rs774658361
|
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.1467G>C (p.Arg489Ser)
|
rs1270133689
|
0.00001
|
NM_000448.3(RAG1):c.1480A>G (p.Ile494Val)
|
rs777216600
|
0.00001
|
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln)
|
rs143969029
|
0.00001
|
NM_000448.3(RAG1):c.1544C>T (p.Pro515Leu)
|
rs1224336572
|
0.00001
|
NM_000448.3(RAG1):c.15C>G (p.Phe5Leu)
|
rs745600099
|
0.00001
|
NM_000448.3(RAG1):c.1632A>G (p.Leu544=)
|
rs762586430
|
0.00001
|
NM_000448.3(RAG1):c.1637C>T (p.Ser546Phe)
|
rs148235228
|
0.00001
|
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)
|
rs104894285
|
0.00001
|
NM_000448.3(RAG1):c.1742T>C (p.Met581Thr)
|
rs1317842420
|
0.00001
|
NM_000448.3(RAG1):c.1822G>A (p.Val608Met)
|
rs761671439
|
0.00001
|
NM_000448.3(RAG1):c.1825A>G (p.Ser609Gly)
|
rs1460488211
|
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.194T>C (p.Val65Ala)
|
rs143654819
|
0.00001
|
NM_000448.3(RAG1):c.1974G>A (p.Leu658=)
|
rs1481299078
|
0.00001
|
NM_000448.3(RAG1):c.2060G>A (p.Ser687Asn)
|
rs767579422
|
0.00001
|
NM_000448.3(RAG1):c.206C>G (p.Ala69Gly)
|
rs887750833
|
0.00001
|
NM_000448.3(RAG1):c.2082G>A (p.Leu694=)
|
rs1850828097
|
0.00001
|
NM_000448.3(RAG1):c.2102T>A (p.Phe701Tyr)
|
rs1197216177
|
0.00001
|
NM_000448.3(RAG1):c.2110A>G (p.Ile704Val)
|
rs886048254
|
0.00001
|
NM_000448.3(RAG1):c.2124C>T (p.Thr708=)
|
rs578086152
|
0.00001
|
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp)
|
rs199776076
|
0.00001
|
NM_000448.3(RAG1):c.2163C>T (p.Leu721=)
|
rs369014366
|
0.00001
|
NM_000448.3(RAG1):c.2181C>G (p.Val727=)
|
rs148763154
|
0.00001
|
NM_000448.3(RAG1):c.2204C>T (p.Ala735Val)
|
rs922541917
|
0.00001
|
NM_000448.3(RAG1):c.2219C>G (p.Ala740Gly)
|
rs762107952
|
0.00001
|
NM_000448.3(RAG1):c.2237T>G (p.Phe746Cys)
|
rs377252087
|
0.00001
|
NM_000448.3(RAG1):c.2291G>A (p.Arg764His)
|
rs768809293
|
0.00001
|
NM_000448.3(RAG1):c.2325G>A (p.Leu775=)
|
rs766907859
|
0.00001
|
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)
|
rs121918572
|
0.00001
|
NM_000448.3(RAG1):c.232C>G (p.Gln78Glu)
|
rs759537311
|
0.00001
|
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)
|
rs121918569
|
0.00001
|
NM_000448.3(RAG1):c.2404G>A (p.Gly802Ser)
|
rs151322536
|
0.00001
|
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)
|
rs768860215
|
0.00001
|
NM_000448.3(RAG1):c.2445A>G (p.Ile815Met)
|
rs748162851
|
0.00001
|
NM_000448.3(RAG1):c.2481G>A (p.Glu827=)
|
rs1304782664
|
0.00001
|
NM_000448.3(RAG1):c.2489A>C (p.Lys830Thr)
|
rs763838960
|
0.00001
|
NM_000448.3(RAG1):c.2500G>T (p.Ala834Ser)
|
rs1215266586
|
0.00001
|
NM_000448.3(RAG1):c.2515C>T (p.His839Tyr)
|
rs1293036892
|
0.00001
|
NM_000448.3(RAG1):c.253C>G (p.Pro85Ala)
|
rs754321019
|
0.00001
|
NM_000448.3(RAG1):c.2600A>C (p.Asp867Ala)
|
rs970428951
|
0.00001
|
NM_000448.3(RAG1):c.2607T>C (p.Val869=)
|
rs751400793
|
0.00001
|
NM_000448.3(RAG1):c.2637C>T (p.His879=)
|
rs772380086
|
0.00001
|
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)
|
rs757797994
|
0.00001
|
NM_000448.3(RAG1):c.2752C>T (p.Arg918Cys)
|
rs753962790
|
0.00001
|
NM_000448.3(RAG1):c.2777A>C (p.Lys926Thr)
|
rs1350887566
|
0.00001
|
NM_000448.3(RAG1):c.277G>A (p.Asp93Asn)
|
rs751291400
|
0.00001
|
NM_000448.3(RAG1):c.283G>A (p.Glu95Lys)
|
rs1343229886
|
0.00001
|
NM_000448.3(RAG1):c.2844A>T (p.Glu948Asp)
|
rs377118671
|
0.00001
|
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr)
|
rs182385524
|
0.00001
|
NM_000448.3(RAG1):c.2896T>A (p.Ser966Thr)
|
rs973731079
|
0.00001
|
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys)
|
rs1389614116
|
0.00001
|
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)
|
rs121918570
|
0.00001
|
NM_000448.3(RAG1):c.296G>A (p.Gly99Asp)
|
rs533714087
|
0.00001
|
NM_000448.3(RAG1):c.2979C>A (p.His993Gln)
|
rs1424729647
|
0.00001
|
NM_000448.3(RAG1):c.2981A>G (p.His994Arg)
|
rs775412266
|
0.00001
|
NM_000448.3(RAG1):c.2991C>T (p.Tyr997=)
|
rs368169159
|
0.00001
|
NM_000448.3(RAG1):c.29G>T (p.Gly10Val)
|
rs977780517
|
0.00001
|
NM_000448.3(RAG1):c.3053C>T (p.Thr1018Ile)
|
rs748782315
|
0.00001
|
NM_000448.3(RAG1):c.3083C>T (p.Pro1028Leu)
|
rs771708758
|
0.00001
|
NM_000448.3(RAG1):c.3084A>G (p.Pro1028=)
|
rs1238573903
|
0.00001
|
NM_000448.3(RAG1):c.308A>G (p.His103Arg)
|
rs777049576
|
0.00001
|
NM_000448.3(RAG1):c.373A>G (p.Arg125Gly)
|
rs776734747
|
0.00001
|
NM_000448.3(RAG1):c.416G>T (p.Gly139Val)
|
rs140648865
|
0.00001
|
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)
|
rs773929270
|
0.00001
|
NM_000448.3(RAG1):c.459C>G (p.Asp153Glu)
|
rs1487804801
|
0.00001
|
NM_000448.3(RAG1):c.467C>T (p.Ala156Val)
|
rs1801203
|
0.00001
|
NM_000448.3(RAG1):c.47A>G (p.Asp16Gly)
|
rs751834545
|
0.00001
|
NM_000448.3(RAG1):c.549G>A (p.Met183Ile)
|
rs750394886
|
0.00001
|
NM_000448.3(RAG1):c.575G>A (p.Cys192Tyr)
|
rs752955928
|
0.00001
|
NM_000448.3(RAG1):c.588C>T (p.Phe196=)
|
rs1223299119
|
0.00001
|
NM_000448.3(RAG1):c.591G>A (p.Pro197=)
|
rs370135440
|
0.00001
|
NM_000448.3(RAG1):c.63A>T (p.Pro21=)
|
rs757035017
|
0.00001
|
NM_000448.3(RAG1):c.652C>T (p.Arg218Cys)
|
rs557360812
|
0.00001
|
NM_000448.3(RAG1):c.680A>T (p.Gln227Leu)
|
rs757672759
|
0.00001
|
NM_000448.3(RAG1):c.712A>G (p.Thr238Ala)
|
rs1850793100
|
0.00001
|
NM_000448.3(RAG1):c.803A>G (p.Asn268Ser)
|
rs372245240
|
0.00001
|
NM_000448.3(RAG1):c.82T>C (p.Trp28Arg)
|
rs1274599533
|
0.00001
|
NM_000448.3(RAG1):c.831G>A (p.Lys277=)
|
rs1376996089
|
0.00001
|
NM_000448.3(RAG1):c.875C>T (p.Ser292Phe)
|
rs1225342881
|
0.00001
|
NM_000448.3(RAG1):c.94C>G (p.Leu32Val)
|
rs149364682
|
0.00001
|
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)
|
rs121918571
|
0.00001
|
NM_000448.3(RAG1):c.995G>A (p.Arg332Gln)
|
rs762022709
|
0.00001
|
NM_000448.3(RAG1):c.996A>T (p.Arg332=)
|
rs1428825905
|
0.00001
|
NM_000448.3(RAG1):c.997T>C (p.Tyr333His)
|
rs1041695603
|
0.00001
|
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)
|
rs902350422
|
0.00001
|
NM_000536.4(RAG2):c.*582T>C
|
rs568192751
|
0.00001
|
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile)
|
rs766318035
|
0.00001
|
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)
|
rs557047531
|
0.00001
|
NM_000536.4(RAG2):c.1120G>C (p.Asp374His)
|
rs772618891
|
0.00001
|
NM_000536.4(RAG2):c.1131C>T (p.Pro377=)
|
rs777940606
|
0.00001
|
NM_000536.4(RAG2):c.1163C>A (p.Ala388Glu)
|
rs958911693
|
0.00001
|
NM_000536.4(RAG2):c.1184G>C (p.Gly395Ala)
|
rs757081652
|
0.00001
|
NM_000536.4(RAG2):c.1209T>C (p.Asn403=)
|
rs1351286949
|
0.00001
|
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile)
|
rs781487639
|
0.00001
|
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr)
|
rs768567592
|
0.00001
|
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)
|
rs1434362838
|
0.00001
|
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)
|
rs193922573
|
0.00001
|
NM_000536.4(RAG2):c.1323C>T (p.Pro441=)
|
rs370624669
|
0.00001
|
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp)
|
rs1564995660
|
0.00001
|
NM_000536.4(RAG2):c.1365T>C (p.His455=)
|
rs369276846
|
0.00001
|
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp)
|
rs1479440369
|
0.00001
|
NM_000536.4(RAG2):c.1404T>C (p.His468=)
|
rs528679382
|
0.00001
|
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)
|
rs757913323
|
0.00001
|
NM_000536.4(RAG2):c.1431C>T (p.Tyr477=)
|
rs750878183
|
0.00001
|
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)
|
rs121918573
|
0.00001
|
NM_000536.4(RAG2):c.1483C>T (p.Leu495=)
|
rs772985232
|
0.00001
|
NM_000536.4(RAG2):c.1485A>T (p.Leu495=)
|
rs1416589328
|
0.00001
|
NM_000536.4(RAG2):c.1526G>T (p.Gly509Val)
|
rs779267024
|
0.00001
|
NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe)
|
rs754150018
|
0.00001
|
NM_000536.4(RAG2):c.1544C>A (p.Thr515Asn)
|
rs1017593785
|
0.00001
|
NM_000536.4(RAG2):c.25A>G (p.Ser9Gly)
|
rs1851108332
|
0.00001
|
NM_000536.4(RAG2):c.268C>G (p.Gln90Glu)
|
rs149769148
|
0.00001
|
NM_000536.4(RAG2):c.288G>A (p.Gly96=)
|
rs1312473059
|
0.00001
|
NM_000536.4(RAG2):c.328A>C (p.Met110Leu)
|
rs193922575
|
0.00001
|
NM_000536.4(RAG2):c.393A>C (p.Gly131=)
|
rs1239959464
|
0.00001
|
NM_000536.4(RAG2):c.39C>A (p.Ala13=)
|
rs753764938
|
0.00001
|
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)
|
rs1315729938
|
0.00001
|
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln)
|
rs779879427
|
0.00001
|
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro)
|
rs1064793250
|
0.00001
|
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu)
|
rs756694972
|
0.00001
|
NM_000536.4(RAG2):c.528T>C (p.Ala176=)
|
rs762907049
|
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.63G>A (p.Leu21=)
|
rs142797325
|
0.00001
|
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser)
|
rs886048272
|
0.00001
|
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)
|
rs765298019
|
0.00001
|
NM_000536.4(RAG2):c.687G>A (p.Arg229=)
|
rs772031809
|
0.00001
|
NM_000536.4(RAG2):c.695A>G (p.Asn232Ser)
|
rs550672306
|
0.00001
|
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser)
|
rs1254138271
|
0.00001
|
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser)
|
rs918016464
|
0.00001
|
NM_000536.4(RAG2):c.750A>G (p.Thr250=)
|
rs747690737
|
0.00001
|
NM_000536.4(RAG2):c.752T>C (p.Val251Ala)
|
rs755587413
|
0.00001
|
NM_000536.4(RAG2):c.756G>A (p.Leu252=)
|
rs751957269
|
0.00001
|
NM_000536.4(RAG2):c.776C>T (p.Ser259Phe)
|
rs758697173
|
0.00001
|
NM_000536.4(RAG2):c.859del (p.Cys287fs)
|
rs754975137
|
0.00001
|
NM_000536.4(RAG2):c.941G>T (p.Ser314Ile)
|
rs766257880
|
0.00001
|
NM_000536.4(RAG2):c.996A>G (p.Pro332=)
|
rs771084047
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*1276C>G
|
rs531017475
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*1535A>G
|
rs1352005289
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*314G>A
|
rs886046845
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*74G>A
|
rs1374817881
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*768G>T
|
rs959243137
|
0.00001
|
NM_001033855.3(DCLRE1C):c.*772A>G
|
rs773288131
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1014T>C (p.Tyr338=)
|
rs748925672
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1052T>C (p.Val351Ala)
|
rs1046572671
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1057G>A (p.Glu353Lys)
|
rs541855040
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1060A>C (p.Ile354Leu)
|
rs556578962
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1062-4T>G
|
rs780826321
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1095G>A (p.Thr365=)
|
rs766628291
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1157-6C>T
|
rs1373511468
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1223C>T (p.Pro408Leu)
|
rs772982087
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1265C>T (p.Ser422Leu)
|
rs1354336544
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1388T>C (p.Val463Ala)
|
rs1564366143
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1445C>A (p.Ala482Asp)
|
rs1834801118
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1510T>C (p.Leu504=)
|
rs1213911811
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1527C>T (p.Ser509=)
|
rs777600117
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1563T>C (p.Leu521=)
|
rs766778472
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=)
|
rs529177486
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1616A>G (p.Gln539Arg)
|
rs1331013284
|
0.00001
|
NM_001033855.3(DCLRE1C):c.162-10T>C
|
rs772500940
|
0.00001
|
NM_001033855.3(DCLRE1C):c.162-1G>T
|
rs149090997
|
0.00001
|
NM_001033855.3(DCLRE1C):c.162-6T>C
|
rs1337543848
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1672G>A (p.Val558Ile)
|
rs1834759314
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1680A>G (p.Leu560=)
|
rs1248801770
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1686C>G (p.Ser562=)
|
rs1375156921
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp)
|
rs767573884
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1694G>T (p.Arg565Ile)
|
rs1834755037
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1734C>T (p.Tyr578=)
|
rs755018546
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1737A>T (p.Arg579Ser)
|
rs749263367
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu)
|
rs780103215
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln)
|
rs1368413064
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1749A>G (p.Lys583=)
|
rs1262216079
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1771A>G (p.Met591Val)
|
rs751968783
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1783G>A (p.Val595Ile)
|
rs1270446904
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu)
|
rs760292491
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1798G>C (p.Asp600His)
|
rs772593258
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala)
|
rs1328876117
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr)
|
rs768407082
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=)
|
rs749159797
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys)
|
rs1051813612
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1914T>C (p.Asn638=)
|
rs1564362421
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1938G>A (p.Gln646=)
|
rs755325293
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1944T>C (p.Ser648=)
|
rs761424494
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1964C>T (p.Ser655Leu)
|
rs775156782
|
0.00001
|
NM_001033855.3(DCLRE1C):c.2038A>T (p.Ile680Leu)
|
rs764886664
|
0.00001
|
NM_001033855.3(DCLRE1C):c.2041G>C (p.Ala681Pro)
|
rs151259511
|
0.00001
|
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp)
|
rs1033877372
|
0.00001
|
NM_001033855.3(DCLRE1C):c.245T>C (p.Ile82Thr)
|
rs748686886
|
0.00001
|
NM_001033855.3(DCLRE1C):c.246+10A>G
|
rs374757450
|
0.00001
|
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys)
|
rs747849702
|
0.00001
|
NM_001033855.3(DCLRE1C):c.267T>G (p.Thr89=)
|
rs375091202
|
0.00001
|
NM_001033855.3(DCLRE1C):c.27C>G (p.Ala9=)
|
rs756715291
|
0.00001
|
NM_001033855.3(DCLRE1C):c.291T>C (p.Asp97=)
|
rs1840574128
|
0.00001
|
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr)
|
rs121908158
|
0.00001
|
NM_001033855.3(DCLRE1C):c.306+13T>G
|
rs371265213
|
0.00001
|
NM_001033855.3(DCLRE1C):c.30G>A (p.Glu10=)
|
rs768356794
|
0.00001
|
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp)
|
rs1477434785
|
0.00001
|
NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser)
|
rs1443020418
|
0.00001
|
NM_001033855.3(DCLRE1C):c.357A>G (p.Ser119=)
|
rs757569484
|
0.00001
|
NM_001033855.3(DCLRE1C):c.362+19T>A
|
rs376946731
|
0.00001
|
NM_001033855.3(DCLRE1C):c.362+9G>A
|
rs1839950577
|
0.00001
|
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=)
|
rs886046850
|
0.00001
|
NM_001033855.3(DCLRE1C):c.402A>G (p.Thr134=)
|
rs776459244
|
0.00001
|
NM_001033855.3(DCLRE1C):c.415T>C (p.Leu139=)
|
rs773367560
|
0.00001
|
NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly)
|
rs756583993
|
0.00001
|
NM_001033855.3(DCLRE1C):c.450G>A (p.Leu150=)
|
rs1392587173
|
0.00001
|
NM_001033855.3(DCLRE1C):c.464+1G>A
|
rs1162344514
|
0.00001
|
NM_001033855.3(DCLRE1C):c.465-18A>C
|
rs746347168
|
0.00001
|
NM_001033855.3(DCLRE1C):c.465-8C>G
|
rs1218480223
|
0.00001
|
NM_001033855.3(DCLRE1C):c.474C>T (p.Asp158=)
|
rs777317576
|
0.00001
|
NM_001033855.3(DCLRE1C):c.475A>T (p.Ile159Phe)
|
rs757929355
|
0.00001
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
NM_001033855.3(DCLRE1C):c.501G>A (p.Thr167=)
|
rs750407775
|
0.00001
|
NM_001033855.3(DCLRE1C):c.519T>C (p.Phe173=)
|
rs1435457844
|
0.00001
|
NM_001033855.3(DCLRE1C):c.537+14G>A
|
rs546891508
|
0.00001
|
NM_001033855.3(DCLRE1C):c.538-4C>T
|
rs1049747642
|
0.00001
|
NM_001033855.3(DCLRE1C):c.554G>A (p.Gly185Glu)
|
rs1336396486
|
0.00001
|
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp)
|
rs766699328
|
0.00001
|
NM_001033855.3(DCLRE1C):c.606G>A (p.Val202=)
|
rs781179035
|
0.00001
|
NM_001033855.3(DCLRE1C):c.614A>T (p.Asn205Ile)
|
rs762532423
|
0.00001
|
NM_001033855.3(DCLRE1C):c.623C>T (p.Ala208Val)
|
rs1326360954
|
0.00001
|
NM_001033855.3(DCLRE1C):c.662A>G (p.Glu221Gly)
|
rs752880501
|
0.00001
|
NM_001033855.3(DCLRE1C):c.679-3T>C
|
rs186192379
|
0.00001
|
NM_001033855.3(DCLRE1C):c.687G>A (p.Val229=)
|
rs746051402
|
0.00001
|
NM_001033855.3(DCLRE1C):c.711C>T (p.Asn237=)
|
rs1403111821
|
0.00001
|
NM_001033855.3(DCLRE1C):c.756G>C (p.Gln252His)
|
rs1249898599
|
0.00001
|
NM_001033855.3(DCLRE1C):c.780+5G>A
|
rs1392493001
|
0.00001
|
NM_001033855.3(DCLRE1C):c.781-6T>C
|
rs1243099678
|
0.00001
|
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg)
|
rs748507317
|
0.00001
|
NM_001033855.3(DCLRE1C):c.849C>T (p.His283=)
|
rs1181812527
|
0.00001
|
NM_001033855.3(DCLRE1C):c.855C>T (p.Ile285=)
|
rs1312288472
|
0.00001
|
NM_001033855.3(DCLRE1C):c.909A>C (p.Val303=)
|
rs1194563521
|
0.00001
|
NM_001033855.3(DCLRE1C):c.934T>C (p.Tyr312His)
|
rs1470101838
|
0.00001
|
NM_001033855.3(DCLRE1C):c.941C>T (p.Ala314Val)
|
rs1838083133
|
0.00001
|
NM_001625.4(AK2):c.162G>A (p.Val54=)
|
rs1227843304
|
0.00001
|
NM_001625.4(AK2):c.199A>G (p.Thr67Ala)
|
rs771799826
|
0.00001
|
NM_001625.4(AK2):c.1A>G (p.Met1Val)
|
rs137853206
|
0.00001
|
NM_001625.4(AK2):c.202A>G (p.Met68Val)
|
rs548856916
|
0.00001
|
NM_001625.4(AK2):c.220-7C>T
|
rs1195194137
|
0.00001
|
NM_001625.4(AK2):c.307C>A (p.Arg103=)
|
rs267606648
|
0.00001
|
NM_001625.4(AK2):c.31G>A (p.Glu11Lys)
|
rs751145915
|
0.00001
|
NM_001625.4(AK2):c.330+8G>C
|
rs781550197
|
0.00001
|
NM_001625.4(AK2):c.37C>T (p.Pro13Ser)
|
rs1227064309
|
0.00001
|
NM_001625.4(AK2):c.410G>A (p.Arg137Gln)
|
rs1167260548
|
0.00001
|
NM_001625.4(AK2):c.419C>T (p.Thr140Ile)
|
rs192209857
|
0.00001
|
NM_001625.4(AK2):c.499-13T>C
|
rs749143789
|
0.00001
|
NM_001625.4(AK2):c.499-5C>T
|
rs1421627521
|
0.00001
|
NM_001625.4(AK2):c.505G>A (p.Gly169Arg)
|
rs1452627532
|
0.00001
|
NM_001625.4(AK2):c.532G>A (p.Asp178Asn)
|
rs1000645415
|
0.00001
|
NM_001625.4(AK2):c.5C>T (p.Ala2Val)
|
rs1394062153
|
0.00001
|
NM_001625.4(AK2):c.610C>T (p.Arg204Trp)
|
rs370429097
|
0.00001
|
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)
|
rs141698985
|
0.00001
|
NM_002872.5(RAC2):c.108-5C>G
|
rs1268302473
|
0.00001
|
NM_002872.5(RAC2):c.186G>A (p.Glu62=)
|
rs778182086
|
0.00001
|
NM_002872.5(RAC2):c.243C>T (p.Cys81=)
|
rs1380331398
|
0.00001
|
NM_002872.5(RAC2):c.283G>A (p.Ala95Thr)
|
rs1286584041
|
0.00001
|
NM_002872.5(RAC2):c.289-18C>T
|
rs1927057532
|
0.00001
|
NM_002872.5(RAC2):c.305G>A (p.Arg102Gln)
|
rs371002273
|
0.00001
|
NM_002872.5(RAC2):c.334C>T (p.Leu112=)
|
rs1927054600
|
0.00001
|
NM_002872.5(RAC2):c.348G>A (p.Lys116=)
|
rs777290534
|
0.00001
|
NM_002872.5(RAC2):c.363C>T (p.Asp121=)
|
rs771516943
|
0.00001
|
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn)
|
rs910521882
|
0.00001
|
NM_002872.5(RAC2):c.379G>A (p.Glu127Lys)
|
rs1342981751
|
0.00001
|
NM_002872.5(RAC2):c.449-3C>T
|
rs367947647
|
0.00001
|
NM_002872.5(RAC2):c.449-9C>T
|
rs1420203399
|
0.00001
|
NM_002872.5(RAC2):c.510C>T (p.Asp170=)
|
rs752897291
|
0.00001
|
NM_002872.5(RAC2):c.547C>T (p.Arg183Trp)
|
rs138762569
|
0.00001
|
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr)
|
rs758461304
|
0.00001
|
NM_002872.5(RAC2):c.574C>T (p.Leu192Phe)
|
rs754120892
|
0.00001
|
NM_002872.5(RAC2):c.579G>A (p.Ter193=)
|
rs371789770
|
0.00001
|
NM_005356.5(LCK):c.1016A>G (p.Asn339Ser)
|
rs1258114778
|
0.00001
|
NM_005356.5(LCK):c.1113G>C (p.Leu371=)
|
rs899084689
|
0.00001
|
NM_005356.5(LCK):c.119A>G (p.Asn40Ser)
|
rs752991931
|
0.00001
|
NM_005356.5(LCK):c.1293G>A (p.Thr431=)
|
rs375815167
|
0.00001
|
NM_005356.5(LCK):c.1302C>T (p.Val434=)
|
rs188058742
|
0.00001
|
NM_005356.5(LCK):c.1328-14C>T
|
rs1478480507
|
0.00001
|
NM_005356.5(LCK):c.1398A>G (p.Pro466=)
|
rs759885748
|
0.00001
|
NM_005356.5(LCK):c.1464C>T (p.Asp488=)
|
rs1223366825
|
0.00001
|
NM_005356.5(LCK):c.1512G>A (p.Gln504=)
|
rs776741414
|
0.00001
|
NM_005356.5(LCK):c.153C>T (p.Tyr51=)
|
rs950834998
|
0.00001
|
NM_005356.5(LCK):c.173C>T (p.Ala58Val)
|
rs568140101
|
0.00001
|
NM_005356.5(LCK):c.252G>T (p.Lys84Asn)
|
rs1444115742
|
0.00001
|
NM_005356.5(LCK):c.253G>C (p.Gly85Arg)
|
rs1038465388
|
0.00001
|
NM_005356.5(LCK):c.343T>C (p.Phe115Leu)
|
rs1429066934
|
0.00001
|
NM_005356.5(LCK):c.348G>T (p.Val116=)
|
rs777531211
|
0.00001
|
NM_005356.5(LCK):c.355G>T (p.Ala119Ser)
|
rs1441550050
|
0.00001
|
NM_005356.5(LCK):c.377+20G>A
|
rs1417648815
|
0.00001
|
NM_005356.5(LCK):c.378-10C>T
|
rs775454062
|
0.00001
|
NM_005356.5(LCK):c.423C>G (p.Leu141=)
|
rs775789532
|
0.00001
|
NM_005356.5(LCK):c.440C>G (p.Thr147Ser)
|
rs761327722
|
0.00001
|
NM_005356.5(LCK):c.482-6A>T
|
rs550203611
|
0.00001
|
NM_005356.5(LCK):c.551G>A (p.Arg184His)
|
rs777578035
|
0.00001
|
NM_005356.5(LCK):c.624T>C (p.His208=)
|
rs1381064871
|
0.00001
|
NM_005356.5(LCK):c.675G>A (p.Gln225=)
|
rs756730214
|
0.00001
|
NM_005356.5(LCK):c.784+10G>A
|
rs761715331
|
0.00001
|
NM_005356.5(LCK):c.785-20C>T
|
rs757937599
|
0.00001
|
NM_005356.5(LCK):c.849C>T (p.Asp283=)
|
rs760860694
|
0.00001
|
NM_005356.5(LCK):c.896G>A (p.Arg299Gln)
|
rs750936420
|
0.00001
|
NM_005356.5(LCK):c.90G>A (p.Leu30=)
|
rs747453202
|
0.00001
|
NM_005356.5(LCK):c.963T>C (p.Asn321=)
|
rs1388701655
|
0.00001
|
NM_006904.7(PRKDC):c.10042C>T (p.Leu3348Phe)
|
rs748138643
|
0.00001
|
NM_006904.7(PRKDC):c.10054G>A (p.Glu3352Lys)
|
rs188295022
|
0.00001
|
NM_006904.7(PRKDC):c.10066G>T (p.Ala3356Ser)
|
rs773570862
|
0.00001
|
NM_006904.7(PRKDC):c.10117G>A (p.Val3373Met)
|
rs117539862
|
0.00001
|
NM_006904.7(PRKDC):c.10142C>T (p.Ala3381Val)
|
rs749202693
|
0.00001
|
NM_006904.7(PRKDC):c.10164T>C (p.Ala3388=)
|
rs777478776
|
0.00001
|
NM_006904.7(PRKDC):c.1018T>A (p.Tyr340Asn)
|
rs1387860580
|
0.00001
|
NM_006904.7(PRKDC):c.10264C>G (p.Gln3422Glu)
|
rs970289440
|
0.00001
|
NM_006904.7(PRKDC):c.10323G>A (p.Ala3441=)
|
rs556812055
|
0.00001
|
NM_006904.7(PRKDC):c.10347A>G (p.Lys3449=)
|
rs181688091
|
0.00001
|
NM_006904.7(PRKDC):c.10451C>T (p.Thr3484Ile)
|
rs2087020924
|
0.00001
|
NM_006904.7(PRKDC):c.10500C>T (p.Ser3500=)
|
rs180843988
|
0.00001
|
NM_006904.7(PRKDC):c.1062G>A (p.Ser354=)
|
rs377710279
|
0.00001
|
NM_006904.7(PRKDC):c.10639A>G (p.Thr3547Ala)
|
rs2086939908
|
0.00001
|
NM_006904.7(PRKDC):c.10667C>T (p.Ala3556Val)
|
rs1396987373
|
0.00001
|
NM_006904.7(PRKDC):c.10670+3A>G
|
rs762657636
|
0.00001
|
NM_006904.7(PRKDC):c.10700T>A (p.Val3567Glu)
|
rs547696421
|
0.00001
|
NM_006904.7(PRKDC):c.10759-12T>G
|
rs901770979
|
0.00001
|
NM_006904.7(PRKDC):c.10778G>A (p.Arg3593Lys)
|
rs531330017
|
0.00001
|
NM_006904.7(PRKDC):c.10855G>A (p.Asp3619Asn)
|
rs2086838657
|
0.00001
|
NM_006904.7(PRKDC):c.11034G>C (p.Gly3678=)
|
rs573050550
|
0.00001
|
NM_006904.7(PRKDC):c.11121T>C (p.Gly3707=)
|
rs376065323
|
0.00001
|
NM_006904.7(PRKDC):c.1113+10A>G
|
rs766261087
|
0.00001
|
NM_006904.7(PRKDC):c.11148C>T (p.His3716=)
|
rs773037497
|
0.00001
|
NM_006904.7(PRKDC):c.11155A>G (p.Ile3719Val)
|
rs373920642
|
0.00001
|
NM_006904.7(PRKDC):c.11174G>A (p.Arg3725Gln)
|
rs546491566
|
0.00001
|
NM_006904.7(PRKDC):c.11222G>A (p.Arg3741His)
|
rs759518580
|
0.00001
|
NM_006904.7(PRKDC):c.11241A>C (p.Glu3747Asp)
|
rs376836064
|
0.00001
|
NM_006904.7(PRKDC):c.11287C>T (p.Arg3763Cys)
|
rs1251759462
|
0.00001
|
NM_006904.7(PRKDC):c.11290G>A (p.Val3764Met)
|
rs756427326
|
0.00001
|
NM_006904.7(PRKDC):c.1132G>A (p.Ala378Thr)
|
rs903157181
|
0.00001
|
NM_006904.7(PRKDC):c.1133C>T (p.Ala378Val)
|
rs760093098
|
0.00001
|
NM_006904.7(PRKDC):c.11353G>A (p.Ala3785Thr)
|
rs759215389
|
0.00001
|
NM_006904.7(PRKDC):c.11505G>A (p.Pro3835=)
|
rs775766242
|
0.00001
|
NM_006904.7(PRKDC):c.11549A>G (p.His3850Arg)
|
rs751427948
|
0.00001
|
NM_006904.7(PRKDC):c.1155C>T (p.Tyr385=)
|
rs774869533
|
0.00001
|
NM_006904.7(PRKDC):c.11561C>T (p.Ala3854Val)
|
rs779943187
|
0.00001
|
NM_006904.7(PRKDC):c.11590C>T (p.Arg3864Cys)
|
rs377101643
|
0.00001
|
NM_006904.7(PRKDC):c.11615G>T (p.Arg3872Ile)
|
rs183727221
|
0.00001
|
NM_006904.7(PRKDC):c.11633T>C (p.Val3878Ala)
|
rs1180793274
|
0.00001
|
NM_006904.7(PRKDC):c.11653C>T (p.Arg3885Trp)
|
rs773471515
|
0.00001
|
NM_006904.7(PRKDC):c.11713G>A (p.Ala3905Thr)
|
rs762000221
|
0.00001
|
NM_006904.7(PRKDC):c.11724C>T (p.His3908=)
|
rs776511532
|
0.00001
|
NM_006904.7(PRKDC):c.11725G>A (p.Ala3909Thr)
|
rs772079669
|
0.00001
|
NM_006904.7(PRKDC):c.11760T>C (p.Ile3920=)
|
rs2086645367
|
0.00001
|
NM_006904.7(PRKDC):c.11826T>C (p.Phe3942=)
|
rs1269069893
|
0.00001
|
NM_006904.7(PRKDC):c.11834C>T (p.Ala3945Val)
|
rs1333590856
|
0.00001
|
NM_006904.7(PRKDC):c.11844C>T (p.Ser3948=)
|
rs774140694
|
0.00001
|
NM_006904.7(PRKDC):c.11845G>A (p.Ala3949Thr)
|
rs770795091
|
0.00001
|
NM_006904.7(PRKDC):c.11853+6C>G
|
rs1444230911
|
0.00001
|
NM_006904.7(PRKDC):c.11893C>T (p.Arg3965Cys)
|
rs775955634
|
0.00001
|
NM_006904.7(PRKDC):c.11894G>A (p.Arg3965His)
|
rs762827851
|
0.00001
|
NM_006904.7(PRKDC):c.11906A>G (p.Asn3969Ser)
|
rs542614672
|
0.00001
|
NM_006904.7(PRKDC):c.11911A>G (p.Met3971Val)
|
rs776137186
|
0.00001
|
NM_006904.7(PRKDC):c.11930C>T (p.Thr3977Met)
|
rs200248112
|
0.00001
|
NM_006904.7(PRKDC):c.11940G>A (p.Met3980Ile)
|
rs557049093
|
0.00001
|
NM_006904.7(PRKDC):c.11947A>G (p.Ile3983Val)
|
rs1430846940
|
0.00001
|
NM_006904.7(PRKDC):c.11958C>T (p.His3986=)
|
rs56405602
|
0.00001
|
NM_006904.7(PRKDC):c.11967G>A (p.Arg3989=)
|
rs953043854
|
0.00001
|
NM_006904.7(PRKDC):c.12018C>T (p.Val4006=)
|
rs778150717
|
0.00001
|
NM_006904.7(PRKDC):c.12043-16T>C
|
rs773486285
|
0.00001
|
NM_006904.7(PRKDC):c.12043-18C>A
|
rs374405676
|
0.00001
|
NM_006904.7(PRKDC):c.12096T>C (p.Asn4032=)
|
rs1368360385
|
0.00001
|
NM_006904.7(PRKDC):c.12099T>G (p.Val4033=)
|
rs1435237966
|
0.00001
|
NM_006904.7(PRKDC):c.12139G>A (p.Ala4047Thr)
|
rs763433546
|
0.00001
|
NM_006904.7(PRKDC):c.12183-5T>C
|
rs762534386
|
0.00001
|
NM_006904.7(PRKDC):c.121G>C (p.Glu41Gln)
|
rs2090786066
|
0.00001
|
NM_006904.7(PRKDC):c.12216T>A (p.Pro4072=)
|
rs570143368
|
0.00001
|
NM_006904.7(PRKDC):c.12301G>C (p.Glu4101Gln)
|
rs754802787
|
0.00001
|
NM_006904.7(PRKDC):c.1258G>A (p.Val420Ile)
|
rs55925466
|
0.00001
|
NM_006904.7(PRKDC):c.1279-4G>A
|
rs370317167
|
0.00001
|
NM_006904.7(PRKDC):c.1279-6C>T
|
rs1020753806
|
0.00001
|
NM_006904.7(PRKDC):c.1305G>A (p.Leu435=)
|
rs1309020483
|
0.00001
|
NM_006904.7(PRKDC):c.1314C>T (p.Leu438=)
|
rs1372098693
|
0.00001
|
NM_006904.7(PRKDC):c.1368G>T (p.Val456=)
|
rs781253650
|
0.00001
|
NM_006904.7(PRKDC):c.1376G>C (p.Arg459Thr)
|
rs995729522
|
0.00001
|
NM_006904.7(PRKDC):c.1389G>A (p.Lys463=)
|
rs772883495
|
0.00001
|
NM_006904.7(PRKDC):c.1443T>C (p.Thr481=)
|
rs750894199
|
0.00001
|
NM_006904.7(PRKDC):c.1447+11A>T
|
rs373343398
|
0.00001
|
NM_006904.7(PRKDC):c.1447+12A>G
|
rs752784913
|
0.00001
|
NM_006904.7(PRKDC):c.1497+5A>C
|
rs746423489
|
0.00001
|
NM_006904.7(PRKDC):c.1529C>T (p.Ala510Val)
|
rs1408325203
|
0.00001
|
NM_006904.7(PRKDC):c.154+18C>T
|
rs970459273
|
0.00001
|
NM_006904.7(PRKDC):c.1560G>A (p.Lys520=)
|
rs2090304492
|
0.00001
|
NM_006904.7(PRKDC):c.1564C>A (p.Pro522Thr)
|
rs376228676
|
0.00001
|
NM_006904.7(PRKDC):c.1582G>A (p.Val528Met)
|
rs533171314
|
0.00001
|
NM_006904.7(PRKDC):c.1640A>G (p.Asp547Gly)
|
rs1455158671
|
0.00001
|
NM_006904.7(PRKDC):c.1645G>A (p.Ala549Thr)
|
rs879333781
|
0.00001
|
NM_006904.7(PRKDC):c.1648T>C (p.Phe550Leu)
|
rs759295562
|
0.00001
|
NM_006904.7(PRKDC):c.164C>T (p.Thr55Ile)
|
rs1444432005
|
0.00001
|
NM_006904.7(PRKDC):c.1676G>C (p.Ser559Thr)
|
rs1038089558
|
0.00001
|
NM_006904.7(PRKDC):c.1693T>C (p.Tyr565His)
|
rs1251465968
|
0.00001
|
NM_006904.7(PRKDC):c.1704T>G (p.Phe568Leu)
|
rs1192522380
|
0.00001
|
NM_006904.7(PRKDC):c.1745C>T (p.Thr582Ile)
|
rs754704193
|
0.00001
|
NM_006904.7(PRKDC):c.1776+14A>G
|
rs376854660
|
0.00001
|
NM_006904.7(PRKDC):c.1819G>C (p.Asp607His)
|
rs375397660
|
0.00001
|
NM_006904.7(PRKDC):c.1826C>T (p.Ala609Val)
|
rs761291525
|
0.00001
|
NM_006904.7(PRKDC):c.1878G>A (p.Leu626=)
|
rs1021217124
|
0.00001
|
NM_006904.7(PRKDC):c.189C>T (p.Phe63=)
|
rs372416216
|
0.00001
|
NM_006904.7(PRKDC):c.1945T>C (p.Phe649Leu)
|
rs55811715
|
0.00001
|
NM_006904.7(PRKDC):c.1991G>A (p.Ser664Asn)
|
rs1217132210
|
0.00001
|
NM_006904.7(PRKDC):c.2013T>C (p.Ser671=)
|
rs1008323620
|
0.00001
|
NM_006904.7(PRKDC):c.2052+19A>G
|
rs780788349
|
0.00001
|
NM_006904.7(PRKDC):c.2053-13T>A
|
rs1379141692
|
0.00001
|
NM_006904.7(PRKDC):c.2081C>T (p.Ser694Phe)
|
rs2090207455
|
0.00001
|
NM_006904.7(PRKDC):c.209G>A (p.Arg70Gln)
|
rs1487320379
|
0.00001
|
NM_006904.7(PRKDC):c.2112T>A (p.Phe704Leu)
|
rs1000728174
|
0.00001
|
NM_006904.7(PRKDC):c.2140-19T>C
|
rs369391050
|
0.00001
|
NM_006904.7(PRKDC):c.2196T>C (p.Phe732=)
|
rs757608691
|
0.00001
|
NM_006904.7(PRKDC):c.2197C>T (p.Leu733Phe)
|
rs1311346330
|
0.00001
|
NM_006904.7(PRKDC):c.2244C>T (p.Tyr748=)
|
rs534226541
|
0.00001
|
NM_006904.7(PRKDC):c.2249C>T (p.Pro750Leu)
|
rs372660444
|
0.00001
|
NM_006904.7(PRKDC):c.2260-4A>G
|
rs748443766
|
0.00001
|
NM_006904.7(PRKDC):c.2291C>T (p.Pro764Leu)
|
rs374576070
|
0.00001
|
NM_006904.7(PRKDC):c.231+7T>C
|
rs760544935
|
0.00001
|
NM_006904.7(PRKDC):c.2317C>T (p.Leu773=)
|
rs886373077
|
0.00001
|
NM_006904.7(PRKDC):c.2420-11A>G
|
rs1227968476
|
0.00001
|
NM_006904.7(PRKDC):c.2420-8A>G
|
rs1462160768
|
0.00001
|
NM_006904.7(PRKDC):c.2620A>G (p.Thr874Ala)
|
rs768430430
|
0.00001
|
NM_006904.7(PRKDC):c.2662A>G (p.Arg888Gly)
|
rs371388640
|
0.00001
|
NM_006904.7(PRKDC):c.2664A>G (p.Arg888=)
|
rs759906865
|
0.00001
|
NM_006904.7(PRKDC):c.2717T>C (p.Phe906Ser)
|
rs868303619
|
0.00001
|
NM_006904.7(PRKDC):c.2886T>C (p.Tyr962=)
|
rs753915221
|
0.00001
|
NM_006904.7(PRKDC):c.2891G>A (p.Arg964Gln)
|
rs375395171
|
0.00001
|
NM_006904.7(PRKDC):c.2935-3C>T
|
rs1280900667
|
0.00001
|
NM_006904.7(PRKDC):c.301G>A (p.Ala101Thr)
|
rs769242222
|
0.00001
|
NM_006904.7(PRKDC):c.3042+8A>G
|
rs757094084
|
0.00001
|
NM_006904.7(PRKDC):c.3060T>C (p.Pro1020=)
|
rs372560569
|
0.00001
|
NM_006904.7(PRKDC):c.3080A>G (p.Asp1027Gly)
|
rs751033972
|
0.00001
|
NM_006904.7(PRKDC):c.3091C>T (p.Arg1031Trp)
|
rs763393727
|
0.00001
|
NM_006904.7(PRKDC):c.3092G>A (p.Arg1031Gln)
|
rs773506987
|
0.00001
|
NM_006904.7(PRKDC):c.309C>T (p.Tyr103=)
|
rs1026071576
|
0.00001
|
NM_006904.7(PRKDC):c.325-17T>A
|
rs1299415327
|
0.00001
|
NM_006904.7(PRKDC):c.325-19T>A
|
rs8178003
|
0.00001
|
NM_006904.7(PRKDC):c.3257A>G (p.Tyr1086Cys)
|
rs2040246227
|
0.00001
|
NM_006904.7(PRKDC):c.3318A>G (p.Ile1106Met)
|
rs2089657778
|
0.00001
|
NM_006904.7(PRKDC):c.3364+4C>T
|
rs779701820
|
0.00001
|
NM_006904.7(PRKDC):c.3364+5G>A
|
rs771582404
|
0.00001
|
NM_006904.7(PRKDC):c.3368C>T (p.Thr1123Ile)
|
rs1563792638
|
0.00001
|
NM_006904.7(PRKDC):c.3388G>T (p.Ala1130Ser)
|
rs749856389
|
0.00001
|
NM_006904.7(PRKDC):c.3406C>T (p.Arg1136Cys)
|
rs1290541476
|
0.00001
|
NM_006904.7(PRKDC):c.3452G>A (p.Arg1151Gln)
|
rs1244109200
|
0.00001
|
NM_006904.7(PRKDC):c.3486_3488del (p.Leu1163del)
|
rs756077763
|
0.00001
|
NM_006904.7(PRKDC):c.34C>T (p.Leu12=)
|
rs1215593528
|
0.00001
|
NM_006904.7(PRKDC):c.3525T>C (p.His1175=)
|
rs2089596531
|
0.00001
|
NM_006904.7(PRKDC):c.3551G>A (p.Arg1184Gln)
|
rs772338039
|
0.00001
|
NM_006904.7(PRKDC):c.3574T>C (p.Tyr1192His)
|
rs370182783
|
0.00001
|
NM_006904.7(PRKDC):c.3584T>C (p.Val1195Ala)
|
rs751372219
|
0.00001
|
NM_006904.7(PRKDC):c.3648T>A (p.Gly1216=)
|
rs750205056
|
0.00001
|
NM_006904.7(PRKDC):c.3668C>T (p.Thr1223Ile)
|
rs756873491
|
0.00001
|
NM_006904.7(PRKDC):c.3719C>T (p.Thr1240Ile)
|
rs1386837522
|
0.00001
|
NM_006904.7(PRKDC):c.3723C>T (p.Leu1241=)
|
rs773205939
|
0.00001
|
NM_006904.7(PRKDC):c.3733C>T (p.Arg1245Trp)
|
rs200017529
|
0.00001
|
NM_006904.7(PRKDC):c.3741A>G (p.Pro1247=)
|
rs373094271
|
0.00001
|
NM_006904.7(PRKDC):c.3774C>T (p.Asp1258=)
|
rs759976926
|
0.00001
|
NM_006904.7(PRKDC):c.3801C>T (p.Tyr1267=)
|
rs1233814201
|
0.00001
|
NM_006904.7(PRKDC):c.3803A>G (p.Asn1268Ser)
|
rs373092389
|
0.00001
|
NM_006904.7(PRKDC):c.3807G>A (p.Thr1269=)
|
rs913376685
|
0.00001
|
NM_006904.7(PRKDC):c.3847+3A>G
|
rs766747088
|
0.00001
|
NM_006904.7(PRKDC):c.3910C>T (p.His1304Tyr)
|
rs1302491830
|
0.00001
|
NM_006904.7(PRKDC):c.3920T>C (p.Ile1307Thr)
|
rs1167261691
|
0.00001
|
NM_006904.7(PRKDC):c.400-9T>C
|
rs1010835557
|
0.00001
|
NM_006904.7(PRKDC):c.4008C>T (p.Thr1336=)
|
rs759012986
|
0.00001
|
NM_006904.7(PRKDC):c.4014G>A (p.Val1338=)
|
rs976690996
|
0.00001
|
NM_006904.7(PRKDC):c.4052C>T (p.Thr1351Ile)
|
rs1487381864
|
0.00001
|
NM_006904.7(PRKDC):c.4059G>A (p.Pro1353=)
|
rs762998738
|
0.00001
|
NM_006904.7(PRKDC):c.4071+15T>C
|
rs1455703540
|
0.00001
|
NM_006904.7(PRKDC):c.4117G>T (p.Val1373Leu)
|
rs759118099
|
0.00001
|
NM_006904.7(PRKDC):c.4159G>A (p.Gly1387Arg)
|
rs562542456
|
0.00001
|
NM_006904.7(PRKDC):c.4164C>T (p.Asp1388=)
|
rs753755880
|
0.00001
|
NM_006904.7(PRKDC):c.4178C>A (p.Ala1393Asp)
|
rs544730211
|
0.00001
|
NM_006904.7(PRKDC):c.4254T>C (p.His1418=)
|
rs761887058
|
0.00001
|
NM_006904.7(PRKDC):c.426A>G (p.Arg142=)
|
rs2090671083
|
0.00001
|
NM_006904.7(PRKDC):c.4271C>T (p.Thr1424Ile)
|
rs1482599945
|
0.00001
|
NM_006904.7(PRKDC):c.4280+13G>T
|
rs1252539119
|
0.00001
|
NM_006904.7(PRKDC):c.4310A>G (p.Tyr1437Cys)
|
rs1241158971
|
0.00001
|
NM_006904.7(PRKDC):c.4354G>T (p.Val1452Leu)
|
rs756826348
|
0.00001
|
NM_006904.7(PRKDC):c.4537G>A (p.Gly1513Arg)
|
rs567617670
|
0.00001
|
NM_006904.7(PRKDC):c.4572+17T>A
|
rs755426893
|
0.00001
|
NM_006904.7(PRKDC):c.4620G>A (p.Thr1540=)
|
rs761425848
|
0.00001
|
NM_006904.7(PRKDC):c.4664A>G (p.His1555Arg)
|
rs779412405
|
0.00001
|
NM_006904.7(PRKDC):c.4738T>C (p.Leu1580=)
|
rs1036833509
|
0.00001
|
NM_006904.7(PRKDC):c.4762G>T (p.Asp1588Tyr)
|
rs371148497
|
0.00001
|
NM_006904.7(PRKDC):c.4786G>A (p.Val1596Ile)
|
rs748380564
|
0.00001
|
NM_006904.7(PRKDC):c.4794C>T (p.Asn1598=)
|
rs781344880
|
0.00001
|
NM_006904.7(PRKDC):c.4796G>A (p.Gly1599Asp)
|
rs747027260
|
0.00001
|
NM_006904.7(PRKDC):c.4823G>A (p.Arg1608Gln)
|
rs753646051
|
0.00001
|
NM_006904.7(PRKDC):c.4996G>A (p.Gly1666Ser)
|
rs369411997
|
0.00001
|
NM_006904.7(PRKDC):c.5001A>G (p.Ser1667=)
|
rs748012286
|
0.00001
|
NM_006904.7(PRKDC):c.5026A>G (p.Ile1676Val)
|
rs751280765
|
0.00001
|
NM_006904.7(PRKDC):c.504T>C (p.Asp168=)
|
rs748204372
|
0.00001
|
NM_006904.7(PRKDC):c.5061T>G (p.His1687Gln)
|
rs1189981425
|
0.00001
|
NM_006904.7(PRKDC):c.515A>G (p.Glu172Gly)
|
rs2090663873
|
0.00001
|
NM_006904.7(PRKDC):c.5166C>T (p.Phe1722=)
|
rs759792953
|
0.00001
|
NM_006904.7(PRKDC):c.5201C>T (p.Pro1734Leu)
|
rs373826298
|
0.00001
|
NM_006904.7(PRKDC):c.5210A>G (p.Asn1737Ser)
|
rs767743327
|
0.00001
|
NM_006904.7(PRKDC):c.5235+15G>C
|
rs745639563
|
0.00001
|
NM_006904.7(PRKDC):c.5235+6T>C
|
rs1040074773
|
0.00001
|
NM_006904.7(PRKDC):c.5363+5G>A
|
rs1234813231
|
0.00001
|
NM_006904.7(PRKDC):c.5465G>A (p.Arg1822His)
|
rs372384719
|
0.00001
|
NM_006904.7(PRKDC):c.549A>G (p.Glu183=)
|
rs749590740
|
0.00001
|
NM_006904.7(PRKDC):c.5523C>T (p.Ser1841=)
|
rs368820910
|
0.00001
|
NM_006904.7(PRKDC):c.5550G>T (p.Val1850=)
|
rs774776599
|
0.00001
|
NM_006904.7(PRKDC):c.5589T>C (p.Phe1863=)
|
rs1468566913
|
0.00001
|
NM_006904.7(PRKDC):c.5750+7T>C
|
rs1231868709
|
0.00001
|
NM_006904.7(PRKDC):c.5813G>C (p.Arg1938Thr)
|
rs2088699565
|
0.00001
|
NM_006904.7(PRKDC):c.5925G>A (p.Leu1975=)
|
rs1365370162
|
0.00001
|
NM_006904.7(PRKDC):c.5956C>T (p.Arg1986Cys)
|
rs759650467
|
0.00001
|
NM_006904.7(PRKDC):c.5985+6T>G
|
rs746662278
|
0.00001
|
NM_006904.7(PRKDC):c.5986-5A>C
|
rs776580122
|
0.00001
|
NM_006904.7(PRKDC):c.6001A>C (p.Lys2001Gln)
|
rs751494390
|
0.00001
|
NM_006904.7(PRKDC):c.6048T>G (p.Asn2016Lys)
|
rs572298242
|
0.00001
|
NM_006904.7(PRKDC):c.6058+20A>G
|
rs187150303
|
0.00001
|
NM_006904.7(PRKDC):c.6059-10T>C
|
rs773945559
|
0.00001
|
NM_006904.7(PRKDC):c.6100A>G (p.Ser2034Gly)
|
rs780356759
|
0.00001
|
NM_006904.7(PRKDC):c.6201G>A (p.Arg2067=)
|
rs745971291
|
0.00001
|
NM_006904.7(PRKDC):c.6205C>T (p.Arg2069Trp)
|
rs779025589
|
0.00001
|
NM_006904.7(PRKDC):c.621+13T>G
|
rs777492908
|
0.00001
|
NM_006904.7(PRKDC):c.6215G>A (p.Arg2072Gln)
|
rs373126381
|
0.00001
|
NM_006904.7(PRKDC):c.6280A>G (p.Met2094Val)
|
rs760219580
|
0.00001
|
NM_006904.7(PRKDC):c.6284C>T (p.Ala2095Val)
|
rs8178147
|
0.00001
|
NM_006904.7(PRKDC):c.6288C>T (p.Pro2096=)
|
rs367613899
|
0.00001
|
NM_006904.7(PRKDC):c.6314A>G (p.His2105Arg)
|
rs1159943440
|
0.00001
|
NM_006904.7(PRKDC):c.631G>A (p.Ala211Thr)
|
rs778561823
|
0.00001
|
NM_006904.7(PRKDC):c.6385C>T (p.Leu2129Phe)
|
rs758819988
|
0.00001
|
NM_006904.7(PRKDC):c.6414A>T (p.Val2138=)
|
rs946805909
|
0.00001
|
NM_006904.7(PRKDC):c.6415C>T (p.Pro2139Ser)
|
rs2088597912
|
0.00001
|
NM_006904.7(PRKDC):c.6428G>A (p.Arg2143His)
|
rs760738985
|
0.00001
|
NM_006904.7(PRKDC):c.6458C>T (p.Thr2153Ile)
|
rs961845104
|
0.00001
|
NM_006904.7(PRKDC):c.6473G>A (p.Arg2158His)
|
rs533209802
|
0.00001
|
NM_006904.7(PRKDC):c.6530A>G (p.Asn2177Ser)
|
rs746404556
|
0.00001
|
NM_006904.7(PRKDC):c.6577A>G (p.Ile2193Val)
|
rs759652590
|
0.00001
|
NM_006904.7(PRKDC):c.6609+11A>C
|
rs775082929
|
0.00001
|
NM_006904.7(PRKDC):c.6609+12T>C
|
rs969860597
|
0.00001
|
NM_006904.7(PRKDC):c.666A>G (p.Gly222=)
|
rs370540740
|
0.00001
|
NM_006904.7(PRKDC):c.6751A>G (p.Ile2251Val)
|
rs753817792
|
0.00001
|
NM_006904.7(PRKDC):c.6759T>C (p.Tyr2253=)
|
rs755959674
|
0.00001
|
NM_006904.7(PRKDC):c.6893+12del
|
rs772087267
|
0.00001
|
NM_006904.7(PRKDC):c.6894-3T>C
|
rs1589743073
|
0.00001
|
NM_006904.7(PRKDC):c.689T>A (p.Leu230His)
|
rs375371187
|
0.00001
|
NM_006904.7(PRKDC):c.6910G>A (p.Val2304Met)
|
rs1442300650
|
0.00001
|
NM_006904.7(PRKDC):c.693G>C (p.Leu231=)
|
rs751059836
|
0.00001
|
NM_006904.7(PRKDC):c.6952G>A (p.Ala2318Thr)
|
rs779732085
|
0.00001
|
NM_006904.7(PRKDC):c.6983G>A (p.Arg2328Gln)
|
rs369112706
|
0.00001
|
NM_006904.7(PRKDC):c.7005+17A>G
|
rs760272282
|
0.00001
|
NM_006904.7(PRKDC):c.7024T>G (p.Cys2342Gly)
|
rs755397534
|
0.00001
|
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=)
|
rs1463023336
|
0.00001
|
NM_006904.7(PRKDC):c.7083T>C (p.Ile2361=)
|
rs1241908273
|
0.00001
|
NM_006904.7(PRKDC):c.7131-12C>T
|
rs1443382361
|
0.00001
|
NM_006904.7(PRKDC):c.7131-8C>T
|
rs753923646
|
0.00001
|
NM_006904.7(PRKDC):c.7230G>A (p.Glu2410=)
|
rs757478932
|
0.00001
|
NM_006904.7(PRKDC):c.7236C>T (p.Tyr2412=)
|
rs1000483044
|
0.00001
|
NM_006904.7(PRKDC):c.7369C>T (p.Pro2457Ser)
|
rs763641731
|
0.00001
|
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=)
|
rs1037182844
|
0.00001
|
NM_006904.7(PRKDC):c.7375G>A (p.Val2459Met)
|
rs376765911
|
0.00001
|
NM_006904.7(PRKDC):c.7425T>C (p.Asn2475=)
|
rs555635336
|
0.00001
|
NM_006904.7(PRKDC):c.7431C>T (p.Leu2477=)
|
rs940747132
|
0.00001
|
NM_006904.7(PRKDC):c.7439T>G (p.Ile2480Ser)
|
rs909325532
|
0.00001
|
NM_006904.7(PRKDC):c.7454+10A>C
|
rs375096742
|
0.00001
|
NM_006904.7(PRKDC):c.7491A>C (p.Glu2497Asp)
|
rs774981081
|
0.00001
|
NM_006904.7(PRKDC):c.7553+4C>T
|
rs866748025
|
0.00001
|
NM_006904.7(PRKDC):c.7556T>C (p.Leu2519Ser)
|
rs767043347
|
0.00001
|
NM_006904.7(PRKDC):c.7565G>A (p.Arg2522Gln)
|
rs773817275
|
0.00001
|
NM_006904.7(PRKDC):c.756A>G (p.Val252=)
|
rs373291520
|
0.00001
|
NM_006904.7(PRKDC):c.7656G>A (p.Val2552=)
|
rs765831612
|
0.00001
|
NM_006904.7(PRKDC):c.7690G>A (p.Glu2564Lys)
|
rs936824267
|
0.00001
|
NM_006904.7(PRKDC):c.7702A>G (p.Met2568Val)
|
rs1246591267
|
0.00001
|
NM_006904.7(PRKDC):c.7703T>C (p.Met2568Thr)
|
rs745934678
|
0.00001
|
NM_006904.7(PRKDC):c.7709C>T (p.Pro2570Leu)
|
rs1282206069
|
0.00001
|
NM_006904.7(PRKDC):c.7760A>G (p.Gln2587Arg)
|
rs749917157
|
0.00001
|
NM_006904.7(PRKDC):c.7793G>A (p.Arg2598Gln)
|
rs55923149
|
0.00001
|
NM_006904.7(PRKDC):c.7808C>T (p.Thr2603Ile)
|
rs1450003938
|
0.00001
|
NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=)
|
rs763035246
|
0.00001
|
NM_006904.7(PRKDC):c.7842C>T (p.Gly2614=)
|
rs1367456571
|
0.00001
|
NM_006904.7(PRKDC):c.7859C>T (p.Thr2620Ile)
|
rs576969654
|
0.00001
|
NM_006904.7(PRKDC):c.7876T>C (p.Ser2626Pro)
|
rs374990584
|
0.00001
|
NM_006904.7(PRKDC):c.7890A>C (p.Pro2630=)
|
rs371778650
|
0.00001
|
NM_006904.7(PRKDC):c.7899G>A (p.Gly2633=)
|
rs887917513
|
0.00001
|
NM_006904.7(PRKDC):c.7925A>G (p.His2642Arg)
|
rs929022606
|
0.00001
|
NM_006904.7(PRKDC):c.7951+18C>T
|
rs748798585
|
0.00001
|
NM_006904.7(PRKDC):c.7996C>T (p.Pro2666Ser)
|
rs1211029973
|
0.00001
|
NM_006904.7(PRKDC):c.8131G>A (p.Glu2711Lys)
|
rs746188479
|
0.00001
|
NM_006904.7(PRKDC):c.8191C>T (p.Arg2731Trp)
|
rs1275553288
|
0.00001
|
NM_006904.7(PRKDC):c.822A>G (p.Leu274=)
|
rs974404055
|
0.00001
|
NM_006904.7(PRKDC):c.8265+4T>C
|
rs777540769
|
0.00001
|
NM_006904.7(PRKDC):c.8311C>A (p.Leu2771Met)
|
rs775561710
|
0.00001
|
NM_006904.7(PRKDC):c.8317A>G (p.Arg2773Gly)
|
rs182343050
|
0.00001
|
NM_006904.7(PRKDC):c.8357A>G (p.Lys2786Arg)
|
rs1261223784
|
0.00001
|
NM_006904.7(PRKDC):c.835G>A (p.Ala279Thr)
|
rs1302651751
|
0.00001
|
NM_006904.7(PRKDC):c.8388C>T (p.Ala2796=)
|
rs373077938
|
0.00001
|
NM_006904.7(PRKDC):c.8397+17G>A
|
rs764386381
|
0.00001
|
NM_006904.7(PRKDC):c.8398-14T>G
|
rs2087785278
|
0.00001
|
NM_006904.7(PRKDC):c.8444G>C (p.Gly2815Ala)
|
rs987446036
|
0.00001
|
NM_006904.7(PRKDC):c.8457G>C (p.Glu2819Asp)
|
rs1326428388
|
0.00001
|
NM_006904.7(PRKDC):c.8494A>G (p.Ile2832Val)
|
rs948862967
|
0.00001
|
NM_006904.7(PRKDC):c.8508G>T (p.Leu2836Phe)
|
rs758382134
|
0.00001
|
NM_006904.7(PRKDC):c.8525G>A (p.Arg2842His)
|
rs749817386
|
0.00001
|
NM_006904.7(PRKDC):c.8546C>A (p.Ser2849Tyr)
|
rs1317837886
|
0.00001
|
NM_006904.7(PRKDC):c.8563G>A (p.Val2855Ile)
|
rs750004932
|
0.00001
|
NM_006904.7(PRKDC):c.8570G>C (p.Cys2857Ser)
|
rs372202384
|
0.00001
|
NM_006904.7(PRKDC):c.8577+14A>G
|
rs559466980
|
0.00001
|
NM_006904.7(PRKDC):c.8577+9del
|
rs759527181
|
0.00001
|
NM_006904.7(PRKDC):c.8579A>G (p.Asp2860Gly)
|
rs899644486
|
0.00001
|
NM_006904.7(PRKDC):c.8613C>T (p.Leu2871=)
|
rs750522094
|
0.00001
|
NM_006904.7(PRKDC):c.8614G>C (p.Asp2872His)
|
rs1436069671
|
0.00001
|
NM_006904.7(PRKDC):c.8682G>A (p.Glu2894=)
|
rs371448868
|
0.00001
|
NM_006904.7(PRKDC):c.8732G>A (p.Arg2911His)
|
rs1439704999
|
0.00001
|
NM_006904.7(PRKDC):c.8743C>T (p.Arg2915Cys)
|
rs373627081
|
0.00001
|
NM_006904.7(PRKDC):c.87G>A (p.Leu29=)
|
rs1185890705
|
0.00001
|
NM_006904.7(PRKDC):c.8811C>T (p.Asp2937=)
|
rs546276154
|
0.00001
|
NM_006904.7(PRKDC):c.8818C>T (p.Arg2940Cys)
|
rs756866332
|
0.00001
|
NM_006904.7(PRKDC):c.8882C>A (p.Ala2961Asp)
|
rs376717552
|
0.00001
|
NM_006904.7(PRKDC):c.8912A>G (p.Gln2971Arg)
|
rs184144490
|
0.00001
|
NM_006904.7(PRKDC):c.8923-7C>G
|
rs1158539922
|
0.00001
|
NM_006904.7(PRKDC):c.8952T>G (p.Gly2984=)
|
rs1468321124
|
0.00001
|
NM_006904.7(PRKDC):c.9018T>C (p.Ala3006=)
|
rs891454470
|
0.00001
|
NM_006904.7(PRKDC):c.9069C>T (p.Asn3023=)
|
rs372872388
|
0.00001
|
NM_006904.7(PRKDC):c.9104T>A (p.Phe3035Tyr)
|
rs1344992948
|
0.00001
|
NM_006904.7(PRKDC):c.924G>A (p.Leu308=)
|
rs770392874
|
0.00001
|
NM_006904.7(PRKDC):c.9255G>T (p.Glu3085Asp)
|
rs56135402
|
0.00001
|
NM_006904.7(PRKDC):c.9336+18A>G
|
rs1334093726
|
0.00001
|
NM_006904.7(PRKDC):c.9336+6_9336+9del
|
rs2087572085
|
0.00001
|
NM_006904.7(PRKDC):c.9337-4T>A
|
rs1216457628
|
0.00001
|
NM_006904.7(PRKDC):c.9375A>G (p.Arg3125=)
|
rs767064513
|
0.00001
|
NM_006904.7(PRKDC):c.9399G>C (p.Gln3133His)
|
rs1178320680
|
0.00001
|
NM_006904.7(PRKDC):c.9442C>G (p.Gln3148Glu)
|
rs373275113
|
0.00001
|
NM_006904.7(PRKDC):c.9445+11T>A
|
rs2087530251
|
0.00001
|
NM_006904.7(PRKDC):c.9446-9T>A
|
rs747255560
|
0.00001
|
NM_006904.7(PRKDC):c.9504T>C (p.Tyr3168=)
|
rs766007651
|
0.00001
|
NM_006904.7(PRKDC):c.9511G>A (p.Ala3171Thr)
|
rs749948848
|
0.00001
|
NM_006904.7(PRKDC):c.9514A>G (p.Lys3172Glu)
|
rs1283749735
|
0.00001
|
NM_006904.7(PRKDC):c.9603A>G (p.Pro3201=)
|
rs1238612162
|
0.00001
|
NM_006904.7(PRKDC):c.9612T>C (p.Asn3204=)
|
rs1358604121
|
0.00001
|
NM_006904.7(PRKDC):c.9622G>A (p.Val3208Met)
|
rs746882589
|
0.00001
|
NM_006904.7(PRKDC):c.967-20del
|
rs1433316798
|
0.00001
|
NM_006904.7(PRKDC):c.9761T>G (p.Leu3254Arg)
|
rs2087152009
|
0.00001
|
NM_006904.7(PRKDC):c.9784C>G (p.Leu3262Val)
|
rs980839570
|
0.00001
|
NM_006904.7(PRKDC):c.9811G>A (p.Asp3271Asn)
|
rs780788138
|
0.00001
|
NM_006904.7(PRKDC):c.9844C>T (p.Arg3282Cys)
|
rs376488016
|
0.00001
|
NM_006904.7(PRKDC):c.9858C>T (p.Cys3286=)
|
rs750682248
|
0.00001
|
NM_006904.7(PRKDC):c.9859C>T (p.Arg3287Trp)
|
rs1415096551
|
0.00001
|
NM_006904.7(PRKDC):c.9922+5G>A
|
rs985025711
|
0.00001
|
NM_006904.7(PRKDC):c.9922+6T>C
|
rs1441959490
|
0.00001
|
NM_006904.7(PRKDC):c.9922G>A (p.Asp3308Asn)
|
rs2087148658
|
0.00001
|
NM_006904.7(PRKDC):c.9923-12T>G
|
rs1440115966
|
0.00001
|
NM_006904.7(PRKDC):c.9923-18del
|
rs2087097139
|
0.00001
|
NM_006904.7(PRKDC):c.9982A>G (p.Ile3328Val)
|
rs752730508
|
0.00001
|
NM_024782.3(NHEJ1):c.112G>A (p.Val38Ile)
|
rs1193921312
|
0.00001
|
NM_024782.3(NHEJ1):c.256G>A (p.Asp86Asn)
|
rs976825540
|
0.00001
|
NM_024782.3(NHEJ1):c.274G>A (p.Glu92Lys)
|
rs754840549
|
0.00001
|
NM_024782.3(NHEJ1):c.351C>G (p.Phe117Leu)
|
rs1249067213
|
0.00001
|
NM_024782.3(NHEJ1):c.390+14G>A
|
rs760019180
|
0.00001
|
NM_024782.3(NHEJ1):c.391-4A>G
|
rs766853125
|
0.00001
|
NM_024782.3(NHEJ1):c.417G>A (p.Leu139=)
|
rs370231557
|
0.00001
|
NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met)
|
rs756563868
|
0.00001
|
NM_024782.3(NHEJ1):c.529+8G>C
|
rs376407655
|
0.00001
|
NM_024782.3(NHEJ1):c.529+9A>T
|
rs749513419
|
0.00001
|
NM_024782.3(NHEJ1):c.557A>G (p.Glu186Gly)
|
rs780016182
|
0.00001
|
NM_024782.3(NHEJ1):c.588+5G>A
|
rs369012414
|
0.00001
|
NM_024782.3(NHEJ1):c.616G>A (p.Asp206Asn)
|
rs1474143340
|
0.00001
|
NM_024782.3(NHEJ1):c.655A>G (p.Met219Val)
|
rs771103739
|
0.00001
|
NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser)
|
rs191958428
|
0.00001
|
NM_024782.3(NHEJ1):c.701G>A (p.Gly234Asp)
|
rs779328166
|
0.00001
|
NM_024782.3(NHEJ1):c.702C>T (p.Gly234=)
|
rs754484855
|
0.00001
|
NM_024782.3(NHEJ1):c.768G>C (p.Gln256His)
|
rs149249203
|
0.00001
|
NM_024782.3(NHEJ1):c.794C>T (p.Pro265Leu)
|
rs770425392
|
0.00001
|
NM_024782.3(NHEJ1):c.825+3G>A
|
rs750458375
|
0.00001
|
NM_198525.3(KIF7):c.733G>A (p.Val245Ile)
|
rs1212811357
|
0.00001
|
NM_206937.2(LIG4):c.*56G>C
|
rs886049947
|
0.00001
|
NM_206937.2(LIG4):c.1020A>G (p.Gln340=)
|
rs535025599
|
0.00001
|
NM_206937.2(LIG4):c.1035G>A (p.Lys345=)
|
rs1348072213
|
0.00001
|
NM_206937.2(LIG4):c.108C>G (p.Ile36Met)
|
rs780698348
|
0.00001
|
NM_206937.2(LIG4):c.1171A>G (p.Ser391Gly)
|
rs1357544473
|
0.00001
|
NM_206937.2(LIG4):c.1193G>A (p.Gly398Asp)
|
rs538646268
|
0.00001
|
NM_206937.2(LIG4):c.1204A>G (p.Ile402Val)
|
rs374180232
|
0.00001
|
NM_206937.2(LIG4):c.1231A>G (p.Lys411Glu)
|
rs753182650
|
0.00001
|
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys)
|
rs755358293
|
0.00001
|
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
|
rs1342090676
|
0.00001
|
NM_206937.2(LIG4):c.1242A>C (p.Val414=)
|
rs150828164
|
0.00001
|
NM_206937.2(LIG4):c.1244T>C (p.Ile415Thr)
|
rs1216434992
|
0.00001
|
NM_206937.2(LIG4):c.1312T>C (p.Tyr438His)
|
rs886037777
|
0.00001
|
NM_206937.2(LIG4):c.1337G>C (p.Gly446Ala)
|
rs199934893
|
0.00001
|
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln)
|
rs758694012
|
0.00001
|
NM_206937.2(LIG4):c.1353A>G (p.Lys451=)
|
rs750628490
|
0.00001
|
NM_206937.2(LIG4):c.1382A>G (p.Glu461Gly)
|
rs2232640
|
0.00001
|
NM_206937.2(LIG4):c.1502A>G (p.His501Arg)
|
rs370368065
|
0.00001
|
NM_206937.2(LIG4):c.1509C>G (p.Leu503=)
|
rs1878402671
|
0.00001
|
NM_206937.2(LIG4):c.1514G>A (p.Arg505His)
|
rs138366433
|
0.00001
|
NM_206937.2(LIG4):c.1532C>G (p.Thr511Ser)
|
rs377661143
|
0.00001
|
NM_206937.2(LIG4):c.1538A>G (p.Lys513Arg)
|
rs538857114
|
0.00001
|
NM_206937.2(LIG4):c.1564T>C (p.Leu522=)
|
rs752670480
|
0.00001
|
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe)
|
rs3742212
|
0.00001
|
NM_206937.2(LIG4):c.1636G>A (p.Glu546Lys)
|
rs1304694234
|
0.00001
|
NM_206937.2(LIG4):c.1641A>C (p.Val547=)
|
rs771151401
|
0.00001
|
NM_206937.2(LIG4):c.1686A>G (p.Ala562=)
|
rs758102049
|
0.00001
|
NM_206937.2(LIG4):c.1696C>T (p.Pro566Ser)
|
rs151324221
|
0.00001
|
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
|
rs763222026
|
0.00001
|
NM_206937.2(LIG4):c.1720T>C (p.Cys574Arg)
|
rs201308256
|
0.00001
|
NM_206937.2(LIG4):c.1730G>A (p.Arg577His)
|
rs748301113
|
0.00001
|
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)
|
rs104894418
|
0.00001
|
NM_206937.2(LIG4):c.1759G>A (p.Asp587Asn)
|
rs377478239
|
0.00001
|
NM_206937.2(LIG4):c.1807A>T (p.Arg603Trp)
|
rs762041406
|
0.00001
|
NM_206937.2(LIG4):c.1849A>G (p.Ile617Val)
|
rs1161384624
|
0.00001
|
NM_206937.2(LIG4):c.1876A>G (p.Lys626Glu)
|
rs777285350
|
0.00001
|
NM_206937.2(LIG4):c.1883G>A (p.Arg628Gln)
|
rs369138956
|
0.00001
|
NM_206937.2(LIG4):c.1884G>T (p.Arg628=)
|
rs199635003
|
0.00001
|
NM_206937.2(LIG4):c.1918A>G (p.Ile640Val)
|
rs1404206174
|
0.00001
|
NM_206937.2(LIG4):c.1922T>C (p.Ile641Thr)
|
rs1165437263
|
0.00001
|
NM_206937.2(LIG4):c.1942A>C (p.Asn648His)
|
rs1271457786
|
0.00001
|
NM_206937.2(LIG4):c.1953C>T (p.Asn651=)
|
rs780588115
|
0.00001
|
NM_206937.2(LIG4):c.2035G>C (p.Glu679Gln)
|
rs957569908
|
0.00001
|
NM_206937.2(LIG4):c.2050G>A (p.Glu684Lys)
|
rs768218603
|
0.00001
|
NM_206937.2(LIG4):c.2197A>G (p.Lys733Glu)
|
rs762817407
|
0.00001
|
NM_206937.2(LIG4):c.2202C>T (p.Ser734=)
|
rs369333400
|
0.00001
|
NM_206937.2(LIG4):c.2210C>T (p.Pro737Leu)
|
rs745416356
|
0.00001
|
NM_206937.2(LIG4):c.2273A>G (p.Tyr758Cys)
|
rs778190953
|
0.00001
|
NM_206937.2(LIG4):c.2289T>C (p.Asp763=)
|
rs1371479521
|
0.00001
|
NM_206937.2(LIG4):c.2299A>G (p.Ile767Val)
|
rs758471169
|
0.00001
|
NM_206937.2(LIG4):c.2320C>G (p.Leu774Val)
|
rs760371875
|
0.00001
|
NM_206937.2(LIG4):c.2404C>T (p.Arg802Trp)
|
rs545309994
|
0.00001
|
NM_206937.2(LIG4):c.2405G>A (p.Arg802Gln)
|
rs772551854
|
0.00001
|
NM_206937.2(LIG4):c.2451C>T (p.Thr817=)
|
rs757299963
|
0.00001
|
NM_206937.2(LIG4):c.2537G>A (p.Arg846Gln)
|
rs974517230
|
0.00001
|
NM_206937.2(LIG4):c.2611C>T (p.Arg871Cys)
|
rs1423437711
|
0.00001
|
NM_206937.2(LIG4):c.2643T>C (p.Thr881=)
|
rs749470898
|
0.00001
|
NM_206937.2(LIG4):c.2659A>G (p.Lys887Glu)
|
rs780983005
|
0.00001
|
NM_206937.2(LIG4):c.321C>T (p.Leu107=)
|
rs751434618
|
0.00001
|
NM_206937.2(LIG4):c.32C>G (p.Ala11Gly)
|
rs778524098
|
0.00001
|
NM_206937.2(LIG4):c.394G>T (p.Val132Leu)
|
rs370586288
|
0.00001
|
NM_206937.2(LIG4):c.39C>T (p.His13=)
|
rs1238224483
|
0.00001
|
NM_206937.2(LIG4):c.411T>C (p.Cys137=)
|
rs915732200
|
0.00001
|
NM_206937.2(LIG4):c.447C>T (p.Asn149=)
|
rs766338799
|
0.00001
|
NM_206937.2(LIG4):c.474T>C (p.Asn158=)
|
rs1252395998
|
0.00001
|
NM_206937.2(LIG4):c.493G>A (p.Asp165Asn)
|
rs1187318427
|
0.00001
|
NM_206937.2(LIG4):c.507G>A (p.Lys169=)
|
rs1265921681
|
0.00001
|
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)
|
rs373262036
|
0.00001
|
NM_206937.2(LIG4):c.527C>T (p.Thr176Ile)
|
rs1420503689
|
0.00001
|
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)
|
rs199854013
|
0.00001
|
NM_206937.2(LIG4):c.675T>C (p.Cys225=)
|
rs954157595
|
0.00001
|
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
|
rs201289944
|
0.00001
|
NM_206937.2(LIG4):c.718A>G (p.Ile240Val)
|
rs747189258
|
0.00001
|
NM_206937.2(LIG4):c.789G>C (p.Met263Ile)
|
rs1295268527
|
0.00001
|
NM_206937.2(LIG4):c.832C>T (p.Arg278Cys)
|
rs574912936
|
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
|
NM_206937.2(LIG4):c.854G>T (p.Gly285Val)
|
rs764372392
|
0.00001
|
NM_206937.2(LIG4):c.864T>C (p.Tyr288=)
|
rs797045681
|
0.00001
|
NM_206937.2(LIG4):c.879A>G (p.Arg293=)
|
rs1332467911
|
0.00001
|
NM_206937.2(LIG4):c.919A>G (p.Thr307Ala)
|
rs373471897
|
0.00001
|
NM_206937.2(LIG4):c.94C>T (p.Arg32Cys)
|
rs770549827
|
0.00001
|
NM_206937.2(LIG4):c.97G>A (p.Ala33Thr)
|
rs769286329
|
0.00001
|
GRCh37/hg19 10p13(chr10:14945105-14954010)x3
|
|
|
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_000001.10:g.(?_33502317)_(33502429_?)dup
|
|
|
NC_000001.11:g.(?_33024422)_(33024587_?)del
|
|
|
NC_000008.10:g.(?_48686714)_(48701819_?)dup
|
|
|
NC_000008.10:g.(?_48686714)_(48713567_?)dup
|
|
|
NC_000008.10:g.(?_48686714)_(48872706_?)dup
|
|
|
NC_000008.10:g.(?_48686734)_(48691674_?)dup
|
|
|
NC_000008.10:g.(?_48686734)_(48872686_?)del
|
|
|
NC_000008.10:g.(?_48686734)_(49833824_?)dup
|
|
|
NC_000008.10:g.(?_48689385)_(48732091_?)dup
|
|
|
NC_000008.10:g.(?_48761695)_(48766795_?)del
|
|
|
NC_000008.10:g.(?_48769697)_(48889338_?)dup
|
|
|
NC_000008.10:g.(?_48839734)_(48872706_?)dup
|
|
|
NC_000008.10:g.(?_48845560)_(48889338_?)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.(?_14946600)_(14951339_?)del
|
|
|
NC_000010.10:g.(?_14953179)_(14961841_?)del
|
|
|
NC_000010.10:g.(?_14961717)_(14996009_?)dup
|
|
|
NC_000010.10:g.(?_14969995)_(14974974_?)dup
|
|
|
NC_000010.10:g.(?_14976359)_(14996009_?)dup
|
|
|
NC_000010.10:g.(?_14976682)_(14996009_?)dup
|
|
|
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)_(14981888_?)dup
|
|
|
NC_000010.10:g.(?_14981789)_(14996009_?)dup
|
|
|
NC_000010.10:g.(?_14981789)_(14996029_?)del
|
|
|
NC_000010.10:g.(?_14981799)_(14981878_?)del
|
|
|
NC_000010.10:g.(?_14981799)_(14981878_?)dup
|
|
|
NC_000010.10:g.(?_14981799)_(14996009_?)del
|
|
|
NC_000010.10:g.(?_14987084)_(14996009_?)dup
|
|
|
NC_000010.10:g.(?_14987084)_(14996029_?)dup
|
|
|
NC_000010.10:g.(?_14989514)_(14996441_?)del
|
|
|
NC_000010.10:g.(?_14991015)_(14991106_?)del
|
|
|
NC_000010.10:g.(?_14995881)_(14996009_?)dup
|
|
|
NC_000010.10:g.(?_14995891)_(14996441_?)del
|
|
|
NC_000010.10:g.14983601_15065700del
|
|
|
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_000011.9:g.(?_36614125)_(36615728_?)del
|
|
|
NC_000013.10:g.(?_108857585)_(108860894_?)del
|
|
|
NC_000013.10:g.(?_108860861)_(108863636_?)dup
|
|
|
NC_000013.10:g.(?_108860881)_(108863616_?)del
|
|
|
NC_000013.10:g.(?_108860881)_(108863616_?)dup
|
|
|
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.(?_43255077)_(43264949_?)dup
|
|
|
NC_000020.10:g.(?_43257668)_(43257830_?)del
|
|
|
NC_000020.10:g.(?_43264848)_(43264949_?)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.44649961_44653216del
|
|
|
NC_000022.10:g.(?_37622713)_(37640188_?)dup
|
|
|
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_000022.3(ADA):c.[780+1G>A];[986C>T]
|
|
|
NM_000022.4(ADA):c.*152C>T
|
rs560858565
|
|
NM_000022.4(ADA):c.*173G>C
|
rs11906526
|
|
NM_000022.4(ADA):c.-10C>G
|
rs886056709
|
|
NM_000022.4(ADA):c.1009G>A (p.Glu337Lys)
|
|
|
NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)
|
|
|
NM_000022.4(ADA):c.1011A>G (p.Glu337=)
|
|
|
NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1020G>A (p.Lys340=)
|
rs761572884
|
|
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)
|
rs2065317387
|
|
NM_000022.4(ADA):c.1023G>A (p.Arg341=)
|
|
|
NM_000022.4(ADA):c.1024G>T (p.Glu342Ter)
|
rs2123507871
|
|
NM_000022.4(ADA):c.1026G>A (p.Glu342=)
|
|
|
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr)
|
rs779530705
|
|
NM_000022.4(ADA):c.1035C>T (p.Asp345=)
|
|
|
NM_000022.4(ADA):c.1037del (p.Leu346fs)
|
|
|
NM_000022.4(ADA):c.1038G>A (p.Leu346=)
|
rs2123507798
|
|
NM_000022.4(ADA):c.103G>C (p.Gly35Arg)
|
|
|
NM_000022.4(ADA):c.1040_1041insAT (p.Tyr348fs)
|
rs2123507789
|
|
NM_000022.4(ADA):c.1051dup (p.Tyr351fs)
|
|
|
NM_000022.4(ADA):c.1054G>A (p.Gly352Arg)
|
rs2065316932
|
|
NM_000022.4(ADA):c.1058T>A (p.Met353Lys)
|
|
|
NM_000022.4(ADA):c.1060C>T (p.Pro354Ser)
|
rs2123507717
|
|
NM_000022.4(ADA):c.1075G>T (p.Ala359Ser)
|
|
|
NM_000022.4(ADA):c.1077A>T (p.Ala359=)
|
rs2065316590
|
|
NM_000022.4(ADA):c.1078+14T>A
|
|
|
NM_000022.4(ADA):c.1078+1G>A
|
|
|
NM_000022.4(ADA):c.1078+2T>A
|
rs1555843178
|
|
NM_000022.4(ADA):c.1078+2T>C
|
|
|
NM_000022.4(ADA):c.1078+8C>G
|
|
|
NM_000022.4(ADA):c.1079-12A>G
|
|
|
NM_000022.4(ADA):c.1079-14G>A
|
|
|
NM_000022.4(ADA):c.1079-15T>A
|
rs387906268
|
|
NM_000022.4(ADA):c.1079-16C>T
|
|
|
NM_000022.4(ADA):c.1079-20T>C
|
|
|
NM_000022.4(ADA):c.1079-7C>A
|
|
|
NM_000022.4(ADA):c.1089C>T (p.Leu363=)
|
rs375339591
|
|
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer)
|
rs1555843039
|
|
NM_000022.4(ADA):c.109G>A (p.Ala37Thr)
|
|
|
NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
|
rs2065409743
|
|
NM_000022.4(ADA):c.126A>G (p.Thr42=)
|
|
|
NM_000022.4(ADA):c.12G>T (p.Thr4=)
|
|
|
NM_000022.4(ADA):c.132G>A (p.Glu44=)
|
|
|
NM_000022.4(ADA):c.135G>A (p.Gly45=)
|
rs2065409509
|
|
NM_000022.4(ADA):c.135G>C (p.Gly45=)
|
|
|
NM_000022.4(ADA):c.138G>A (p.Leu46=)
|
|
|
NM_000022.4(ADA):c.141G>A (p.Leu47=)
|
|
|
NM_000022.4(ADA):c.141_142del (p.Asn48fs)
|
|
|
NM_000022.4(ADA):c.150T>C (p.Ile50=)
|
|
|
NM_000022.4(ADA):c.153C>T (p.Gly51=)
|
|
|
NM_000022.4(ADA):c.154A>T (p.Met52Leu)
|
rs2065409254
|
|
NM_000022.4(ADA):c.159C>T (p.Asp53=)
|
|
|
NM_000022.4(ADA):c.15C>A (p.Pro5=)
|
|
|
NM_000022.4(ADA):c.15C>G (p.Pro5=)
|
rs1377009879
|
|
NM_000022.4(ADA):c.15C>T (p.Pro5=)
|
|
|
NM_000022.4(ADA):c.165G>A (p.Pro55=)
|
rs764188731
|
|
NM_000022.4(ADA):c.165G>T (p.Pro55=)
|
rs764188731
|
|
NM_000022.4(ADA):c.168C>T (p.Leu56=)
|
|
|
NM_000022.4(ADA):c.16G>T (p.Ala6Ser)
|
|
|
NM_000022.4(ADA):c.177A>T (p.Pro59=)
|
rs2145324680
|
|
NM_000022.4(ADA):c.184C>T (p.Leu62=)
|
|
|
NM_000022.4(ADA):c.187del (p.Ala63fs)
|
|
|
NM_000022.4(ADA):c.190A>G (p.Lys64Glu)
|
|
|
NM_000022.4(ADA):c.19T>C (p.Phe7Leu)
|
|
|
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)
|
rs1419063255
|
|
NM_000022.4(ADA):c.201C>T (p.Tyr67=)
|
rs1419063255
|
|
NM_000022.4(ADA):c.210T>C (p.Pro70=)
|
|
|
NM_000022.4(ADA):c.214A>G (p.Ile72Val)
|
|
|
NM_000022.4(ADA):c.218+10C>A
|
rs372418784
|
|
NM_000022.4(ADA):c.218+11C>T
|
|
|
NM_000022.4(ADA):c.218+14A>C
|
|
|
NM_000022.4(ADA):c.218+15A>G
|
|
|
NM_000022.4(ADA):c.218+17C>G
|
rs2145324527
|
|
NM_000022.4(ADA):c.218+17C>T
|
|
|
NM_000022.4(ADA):c.218+1G>T
|
|
|
NM_000022.4(ADA):c.218+20C>T
|
|
|
NM_000022.4(ADA):c.218+2T>G
|
rs1555845120
|
|
NM_000022.4(ADA):c.218+2dup
|
rs1555845122
|
|
NM_000022.4(ADA):c.218C>T (p.Ala73Val)
|
|
|
NM_000022.4(ADA):c.219-10C>T
|
|
|
NM_000022.4(ADA):c.219-16T>G
|
|
|
NM_000022.4(ADA):c.219-17C>T
|
|
|
NM_000022.4(ADA):c.219-1G>A
|
rs751147673
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.219-8C>T
|
rs2065385208
|
|
NM_000022.4(ADA):c.219-9C>T
|
|
|
NM_000022.4(ADA):c.219G>A (p.Ala73=)
|
rs2145320070
|
|
NM_000022.4(ADA):c.220G>T (p.Gly74Cys)
|
rs121908730
|
|
NM_000022.4(ADA):c.221G>A (p.Gly74Asp)
|
|
|
NM_000022.4(ADA):c.222C>A (p.Gly74=)
|
rs2145320054
|
|
NM_000022.4(ADA):c.224G>A (p.Cys75Tyr)
|
rs2065385037
|
|
NM_000022.4(ADA):c.225C>G (p.Cys75Trp)
|
rs2065384997
|
|
NM_000022.4(ADA):c.225C>T (p.Cys75=)
|
|
|
NM_000022.4(ADA):c.234T>C (p.Ala78=)
|
rs2145320017
|
|
NM_000022.4(ADA):c.248C>A (p.Ala83Asp)
|
rs121908726
|
|
NM_000022.4(ADA):c.248C>G (p.Ala83Gly)
|
rs121908726
|
|
NM_000022.4(ADA):c.252T>C (p.Tyr84=)
|
rs372137742
|
|
NM_000022.4(ADA):c.255G>A (p.Glu85=)
|
rs2145319943
|
|
NM_000022.4(ADA):c.272C>T (p.Ala91Val)
|
rs2065384431
|
|
NM_000022.4(ADA):c.279G>A (p.Glu93=)
|
|
|
NM_000022.4(ADA):c.281G>A (p.Gly94Asp)
|
|
|
NM_000022.4(ADA):c.282C>G (p.Gly94=)
|
rs771207375
|
|
NM_000022.4(ADA):c.288G>A (p.Val96=)
|
|
|
NM_000022.4(ADA):c.291T>C (p.Tyr97=)
|
rs2065384066
|
|
NM_000022.4(ADA):c.293del (p.Val98fs)
|
|
|
NM_000022.4(ADA):c.298G>A (p.Val100Met)
|
rs1386689344
|
|
NM_000022.4(ADA):c.2T>G (p.Met1Arg)
|
|
|
NM_000022.4(ADA):c.301C>G (p.Arg101Gly)
|
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.303G>C (p.Arg101=)
|
rs1452724917
|
|
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.315C>T (p.His105=)
|
|
|
NM_000022.4(ADA):c.322del (p.Ala108fs)
|
|
|
NM_000022.4(ADA):c.324C>T (p.Ala108=)
|
|
|
NM_000022.4(ADA):c.33+10C>G
|
|
|
NM_000022.4(ADA):c.33+12C>G
|
|
|
NM_000022.4(ADA):c.33+13G>A
|
|
|
NM_000022.4(ADA):c.33+17G>A
|
|
|
NM_000022.4(ADA):c.33+17G>T
|
|
|
NM_000022.4(ADA):c.33+17dup
|
rs1246752878
|
|
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.33+8C>T
|
|
|
NM_000022.4(ADA):c.331A>G (p.Lys111Glu)
|
|
|
NM_000022.4(ADA):c.337G>T (p.Glu113Ter)
|
rs1275500780
|
|
NM_000022.4(ADA):c.34-10C>T
|
|
|
NM_000022.4(ADA):c.34-11_55del
|
rs1230022655
|
|
NM_000022.4(ADA):c.34-12G>A
|
|
|
NM_000022.4(ADA):c.34-16C>T
|
|
|
NM_000022.4(ADA):c.34-20T>C
|
|
|
NM_000022.4(ADA):c.34-29CT[3]
|
|
|
NM_000022.4(ADA):c.34-6T>C
|
rs1251733870
|
|
NM_000022.4(ADA):c.34-7del
|
rs1297398786
|
|
NM_000022.4(ADA):c.348C>G (p.Pro116=)
|
rs2145319670
|
|
NM_000022.4(ADA):c.355C>A (p.Gln119Lys)
|
|
|
NM_000022.4(ADA):c.357G>A (p.Gln119=)
|
|
|
NM_000022.4(ADA):c.360T>C (p.Ala120=)
|
|
|
NM_000022.4(ADA):c.362+12G>A
|
|
|
NM_000022.4(ADA):c.362+13C>T
|
|
|
NM_000022.4(ADA):c.362+5G>C
|
|
|
NM_000022.4(ADA):c.362+5_362+8del
|
rs763595926
|
|
NM_000022.4(ADA):c.362+6T>C
|
rs200539724
|
|
NM_000022.4(ADA):c.363-11T>C
|
|
|
NM_000022.4(ADA):c.363-1G>T
|
|
|
NM_000022.4(ADA):c.363-2A>G
|
rs2145318314
|
|
NM_000022.4(ADA):c.363-2A>T
|
|
|
NM_000022.4(ADA):c.363-3C>T
|
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.367G>A (p.Asp123Asn)
|
rs1458135388
|
|
NM_000022.4(ADA):c.367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.368A>C (p.Asp123Ala)
|
|
|
NM_000022.4(ADA):c.36_37delinsAA (p.Glu13Lys)
|
rs2145338174
|
|
NM_000022.4(ADA):c.372C>T (p.Leu124=)
|
|
|
NM_000022.4(ADA):c.375C>T (p.Thr125=)
|
|
|
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.385G>T (p.Val129Leu)
|
rs121908731
|
|
NM_000022.4(ADA):c.394del (p.Ala131_Leu132insTer)
|
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.399G>A (p.Val133=)
|
rs2145318189
|
|
NM_000022.4(ADA):c.407del (p.Gly136fs)
|
|
|
NM_000022.4(ADA):c.408C>A (p.Gly136=)
|
|
|
NM_000022.4(ADA):c.410del (p.Leu137fs)
|
|
|
NM_000022.4(ADA):c.411G>T (p.Leu137=)
|
|
|
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
|
|
|
NM_000022.4(ADA):c.418G>C (p.Gly140Arg)
|
rs746917604
|
|
NM_000022.4(ADA):c.419G>A (p.Gly140Glu)
|
rs121908732
|
|
NM_000022.4(ADA):c.421G>T (p.Glu141Ter)
|
rs1199690825
|
|
NM_000022.4(ADA):c.422A>C (p.Glu141Ala)
|
rs1600923570
|
|
NM_000022.4(ADA):c.424C>A (p.Arg142=)
|
|
|
NM_000022.4(ADA):c.433G>C (p.Gly145Arg)
|
rs1568845422
|
|
NM_000022.4(ADA):c.435G>C (p.Gly145=)
|
rs1268573720
|
|
NM_000022.4(ADA):c.442G>T (p.Ala148Ser)
|
|
|
NM_000022.4(ADA):c.445C>A (p.Arg149=)
|
rs121908733
|
|
NM_000022.4(ADA):c.446G>T (p.Arg149Leu)
|
rs121908737
|
|
NM_000022.4(ADA):c.447del (p.Ser150fs)
|
|
|
NM_000022.4(ADA):c.44A>T (p.His15Leu)
|
rs1209280928
|
|
NM_000022.4(ADA):c.452T>C (p.Ile151Thr)
|
rs990121469
|
|
NM_000022.4(ADA):c.455T>C (p.Leu152Pro)
|
rs1568845361
|
|
NM_000022.4(ADA):c.460T>C (p.Cys154Arg)
|
|
|
NM_000022.4(ADA):c.467G>C (p.Arg156Pro)
|
rs121908722
|
|
NM_000022.4(ADA):c.467G>T (p.Arg156Leu)
|
rs121908722
|
|
NM_000022.4(ADA):c.478+12C>G
|
|
|
NM_000022.4(ADA):c.478+15C>T
|
|
|
NM_000022.4(ADA):c.478+16G>A
|
|
|
NM_000022.4(ADA):c.478+18C>T
|
|
|
NM_000022.4(ADA):c.478+1G>C
|
|
|
NM_000022.4(ADA):c.478+20T>G
|
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.478+6T>C
|
rs1555844600
|
|
NM_000022.4(ADA):c.478+8G>A
|
rs2145317902
|
|
NM_000022.4(ADA):c.479-14C>A
|
|
|
NM_000022.4(ADA):c.479-19G>A
|
|
|
NM_000022.4(ADA):c.479-20G>A
|
|
|
NM_000022.4(ADA):c.479-23_479-2delinsTGGGACCAGCAT
|
|
|
NM_000022.4(ADA):c.479-2del
|
rs1600921786
|
|
NM_000022.4(ADA):c.479-3_479-2del
|
rs1555844457
|
|
NM_000022.4(ADA):c.479-6C>T
|
|
|
NM_000022.4(ADA):c.479-7C>T
|
|
|
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
|
|
|
NM_000022.4(ADA):c.486C>A (p.Ser162=)
|
rs760888818
|
|
NM_000022.4(ADA):c.486C>T (p.Ser162=)
|
|
|
NM_000022.4(ADA):c.489C>G (p.Pro163=)
|
rs2065362080
|
|
NM_000022.4(ADA):c.48C>T (p.Val16=)
|
rs2145338144
|
|
NM_000022.4(ADA):c.498G>A (p.Val166=)
|
rs2145315898
|
|
NM_000022.4(ADA):c.49C>T (p.His17Tyr)
|
|
|
NM_000022.4(ADA):c.49del (p.His17fs)
|
|
|
NM_000022.4(ADA):c.507dup (p.Lys170Ter)
|
|
|
NM_000022.4(ADA):c.511A>T (p.Lys171Ter)
|
rs2065361731
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
NM_000022.4(ADA):c.516C>T (p.Tyr172=)
|
|
|
NM_000022.4(ADA):c.517del (p.Gln173fs)
|
|
|
NM_000022.4(ADA):c.528C>G (p.Thr176=)
|
rs780518207
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.532dup (p.Val178fs)
|
rs886041796
|
|
NM_000022.4(ADA):c.537C>T (p.Ala179=)
|
rs1350687211
|
|
NM_000022.4(ADA):c.543C>T (p.Asp181=)
|
rs764244541
|
|
NM_000022.4(ADA):c.546G>T (p.Leu182=)
|
|
|
NM_000022.4(ADA):c.552A>C (p.Gly184=)
|
rs2145315694
|
|
NM_000022.4(ADA):c.556G>A (p.Glu186Lys)
|
rs1555844416
|
|
NM_000022.4(ADA):c.558G>A (p.Glu186=)
|
rs1410010771
|
|
NM_000022.4(ADA):c.561C>A (p.Thr187=)
|
|
|
NM_000022.4(ADA):c.561C>T (p.Thr187=)
|
|
|
NM_000022.4(ADA):c.567A>G (p.Pro189=)
|
|
|
NM_000022.4(ADA):c.569G>A (p.Gly190Glu)
|
|
|
NM_000022.4(ADA):c.572G>A (p.Ser191Asn)
|
rs2065360796
|
|
NM_000022.4(ADA):c.573C>T (p.Ser191=)
|
rs1469122145
|
|
NM_000022.4(ADA):c.577dup (p.Leu193fs)
|
rs759445496
|
|
NM_000022.4(ADA):c.57C>A (p.Asp19Glu)
|
rs762695968
|
|
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.596A>G (p.Gln199Arg)
|
|
|
NM_000022.4(ADA):c.600C>A (p.Ala200=)
|
rs2145315464
|
|
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.603C>T (p.Tyr201=)
|
|
|
NM_000022.4(ADA):c.606+10G>T
|
rs201045221
|
|
NM_000022.4(ADA):c.606+15_606+17del
|
rs776587269
|
|
NM_000022.4(ADA):c.606+1G>T
|
|
|
NM_000022.4(ADA):c.606+8C>T
|
|
|
NM_000022.4(ADA):c.607-11C>T
|
|
|
NM_000022.4(ADA):c.607-12dup
|
|
|
NM_000022.4(ADA):c.607-13C>T
|
|
|
NM_000022.4(ADA):c.607-16G>C
|
rs369386306
|
|
NM_000022.4(ADA):c.607-4C>G
|
rs1417471985
|
|
NM_000022.4(ADA):c.607-7C>G
|
rs779676480
|
|
NM_000022.4(ADA):c.607-7C>T
|
rs779676480
|
|
NM_000022.4(ADA):c.607-8C>A
|
rs751830380
|
|
NM_000022.4(ADA):c.607-8C>T
|
rs751830380
|
|
NM_000022.4(ADA):c.607-9C>T
|
|
|
NM_000022.4(ADA):c.612T>A (p.Ala204=)
|
rs1469964785
|
|
NM_000022.4(ADA):c.613_615del (p.Val205del)
|
|
|
NM_000022.4(ADA):c.622_632del (p.Gly208fs)
|
|
|
NM_000022.4(ADA):c.631C>A (p.Arg211Ser)
|
|
|
NM_000022.4(ADA):c.636T>C (p.Thr212=)
|
|
|
NM_000022.4(ADA):c.645C>G (p.Ala215=)
|
|
|
NM_000022.4(ADA):c.645_648dup (p.Glu217fs)
|
rs2065348171
|
|
NM_000022.4(ADA):c.648G>A (p.Gly216=)
|
rs1568843748
|
|
NM_000022.4(ADA):c.654G>T (p.Val218=)
|
|
|
NM_000022.4(ADA):c.659C>T (p.Ser220Leu)
|
rs747167602
|
|
NM_000022.4(ADA):c.660G>C (p.Ser220=)
|
rs147038410
|
|
NM_000022.4(ADA):c.661G>A (p.Ala221Thr)
|
rs2065347889
|
|
NM_000022.4(ADA):c.674_675del (p.Lys225fs)
|
|
|
NM_000022.4(ADA):c.678+12G>C
|
|
|
NM_000022.4(ADA):c.678+13del
|
|
|
NM_000022.4(ADA):c.678+17G>A
|
|
|
NM_000022.4(ADA):c.678+20A>G
|
|
|
NM_000022.4(ADA):c.679-17A>T
|
|
|
NM_000022.4(ADA):c.679-2A>G
|
|
|
NM_000022.4(ADA):c.679-3C>G
|
rs2065346802
|
|
NM_000022.4(ADA):c.679-3C>T
|
|
|
NM_000022.4(ADA):c.679-7T>C
|
|
|
NM_000022.4(ADA):c.688A>C (p.Ile230Leu)
|
rs775436011
|
|
NM_000022.4(ADA):c.690dup (p.Leu231fs)
|
rs2065346614
|
|
NM_000022.4(ADA):c.693C>G (p.Leu231=)
|
|
|
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)
|
rs121908729
|
|
NM_000022.4(ADA):c.700G>A (p.Glu234Lys)
|
rs2065346506
|
|
NM_000022.4(ADA):c.701A>G (p.Glu234Gly)
|
|
|
NM_000022.4(ADA):c.703C>A (p.Arg235=)
|
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000022.4(ADA):c.705G>C (p.Arg235=)
|
rs2123518248
|
|
NM_000022.4(ADA):c.705del (p.Leu236fs)
|
rs1225623204
|
|
NM_000022.4(ADA):c.706C>T (p.Leu236=)
|
|
|
NM_000022.4(ADA):c.708G>A (p.Leu236=)
|
rs757155433
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000022.4(ADA):c.723C>T (p.His241=)
|
|
|
NM_000022.4(ADA):c.727C>T (p.Leu243=)
|
|
|
NM_000022.4(ADA):c.729G>C (p.Leu243=)
|
rs755578452
|
|
NM_000022.4(ADA):c.736C>T (p.Gln246Ter)
|
rs1555844120
|
|
NM_000022.4(ADA):c.741C>T (p.Ala247=)
|
|
|
NM_000022.4(ADA):c.747T>C (p.Tyr249=)
|
rs2123518034
|
|
NM_000022.4(ADA):c.751A>T (p.Arg251Trp)
|
rs1254815787
|
|
NM_000022.4(ADA):c.753G>A (p.Arg251=)
|
|
|
NM_000022.4(ADA):c.755_756insTG (p.Arg253fs)
|
|
|
NM_000022.4(ADA):c.757C>A (p.Arg253=)
|
rs201944717
|
|
NM_000022.4(ADA):c.760C>T (p.Gln254Ter)
|
rs2065345592
|
|
NM_000022.4(ADA):c.765A>G (p.Glu255=)
|
rs761098217
|
|
NM_000022.4(ADA):c.767del (p.Asn256fs)
|
rs2123517868
|
|
NM_000022.4(ADA):c.76A>C (p.Thr26Pro)
|
|
|
NM_000022.4(ADA):c.771G>A (p.Met257Ile)
|
|
|
NM_000022.4(ADA):c.772C>T (p.His258Tyr)
|
|
|
NM_000022.4(ADA):c.780+15G>T
|
|
|
NM_000022.4(ADA):c.780+16A>G
|
|
|
NM_000022.4(ADA):c.780+17G>A
|
|
|
NM_000022.4(ADA):c.780+18T>C
|
|
|
NM_000022.4(ADA):c.780+19G>T
|
|
|
NM_000022.4(ADA):c.780+1del
|
rs2123517791
|
|
NM_000022.4(ADA):c.780+4A>G
|
|
|
NM_000022.4(ADA):c.780+7G>C
|
rs371862936
|
|
NM_000022.4(ADA):c.780+8G>T
|
|
|
NM_000022.4(ADA):c.781-17C>T
|
|
|
NM_000022.4(ADA):c.781-18A>C
|
|
|
NM_000022.4(ADA):c.781-1G>T
|
|
|
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG
|
rs2123516908
|
|
NM_000022.4(ADA):c.781-4C>T
|
rs374812597
|
|
NM_000022.4(ADA):c.781-8T>C
|
|
|
NM_000022.4(ADA):c.781-8T>G
|
|
|
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)
|
rs757796081
|
|
NM_000022.4(ADA):c.790del (p.Trp264fs)
|
rs1555844006
|
|
NM_000022.4(ADA):c.791G>A (p.Trp264Ter)
|
rs2065342571
|
|
NM_000022.4(ADA):c.795C>T (p.Ser265=)
|
rs1318848804
|
|
NM_000022.4(ADA):c.7C>T (p.Gln3Ter)
|
rs1057520217
|
|
NM_000022.4(ADA):c.800A>C (p.Tyr267Ser)
|
rs370450947
|
|
NM_000022.4(ADA):c.801C>T (p.Tyr267=)
|
rs2123516817
|
|
NM_000022.4(ADA):c.807T>G (p.Thr269=)
|
rs2123516814
|
|
NM_000022.4(ADA):c.810T>C (p.Gly270=)
|
|
|
NM_000022.4(ADA):c.813C>T (p.Ala271=)
|
|
|
NM_000022.4(ADA):c.813_814insAC (p.Trp272fs)
|
|
|
NM_000022.4(ADA):c.822G>A (p.Pro274=)
|
rs562095440
|
|
NM_000022.4(ADA):c.822G>T (p.Pro274=)
|
rs562095440
|
|
NM_000022.4(ADA):c.825C>T (p.Asp275=)
|
rs778167423
|
|
NM_000022.4(ADA):c.829del (p.Glu277fs)
|
|
|
NM_000022.4(ADA):c.831G>A (p.Glu277=)
|
|
|
NM_000022.4(ADA):c.837A>G (p.Ala279=)
|
|
|
NM_000022.4(ADA):c.83T>A (p.Leu28Ter)
|
|
|
NM_000022.4(ADA):c.845+13C>T
|
|
|
NM_000022.4(ADA):c.845+15C>T
|
|
|
NM_000022.4(ADA):c.845+17T>A
|
|
|
NM_000022.4(ADA):c.845+17T>G
|
|
|
NM_000022.4(ADA):c.845+18G>C
|
|
|
NM_000022.4(ADA):c.845+20G>A
|
|
|
NM_000022.4(ADA):c.845+2T>C
|
rs2123516572
|
|
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
|
|
|
NM_000022.4(ADA):c.846-12C>T
|
|
|
NM_000022.4(ADA):c.846-13C>T
|
|
|
NM_000022.4(ADA):c.846-17T>G
|
|
|
NM_000022.4(ADA):c.846-5T>C
|
|
|
NM_000022.4(ADA):c.846-7T>G
|
rs1453879636
|
|
NM_000022.4(ADA):c.846-9C>G
|
|
|
NM_000022.4(ADA):c.846-9C>T
|
|
|
NM_000022.4(ADA):c.850A>G (p.Lys284Glu)
|
rs2123511375
|
|
NM_000022.4(ADA):c.854dup (p.Asn285fs)
|
rs2123511347
|
|
NM_000022.4(ADA):c.859C>T (p.Gln287Ter)
|
rs2065327852
|
|
NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)
|
|
|
NM_000022.4(ADA):c.861G>A (p.Gln287=)
|
|
|
NM_000022.4(ADA):c.867C>G (p.Asn289Lys)
|
|
|
NM_000022.4(ADA):c.870C>A (p.Tyr290Ter)
|
rs2065327638
|
|
NM_000022.4(ADA):c.870C>T (p.Tyr290=)
|
rs2065327638
|
|
NM_000022.4(ADA):c.872C>G (p.Ser291Trp)
|
rs121908721
|
|
NM_000022.4(ADA):c.877_878delinsT (p.Asn293fs)
|
|
|
NM_000022.4(ADA):c.879_898del (p.Thr294fs)
|
rs2065327187
|
|
NM_000022.4(ADA):c.882A>C (p.Thr294=)
|
rs2123511182
|
|
NM_000022.4(ADA):c.888C>T (p.Asp296=)
|
rs2123511163
|
|
NM_000022.4(ADA):c.890C>T (p.Pro297Leu)
|
rs121908718
|
|
NM_000022.4(ADA):c.893T>G (p.Leu298Arg)
|
|
|
NM_000022.4(ADA):c.894C>T (p.Leu298=)
|
|
|
NM_000022.4(ADA):c.902A>T (p.Lys301Met)
|
|
|
NM_000022.4(ADA):c.906C>T (p.Ser302=)
|
rs2123510993
|
|
NM_000022.4(ADA):c.906_915delinsTGTTACCAGATTACCAGATG (p.Thr303fs)
|
|
|
NM_000022.4(ADA):c.909C>T (p.Thr303=)
|
rs2065326970
|
|
NM_000022.4(ADA):c.912G>A (p.Leu304=)
|
|
|
NM_000022.4(ADA):c.933C>G (p.Thr311=)
|
|
|
NM_000022.4(ADA):c.937C>T (p.Arg313Trp)
|
rs79249850
|
|
NM_000022.4(ADA):c.939G>C (p.Arg313=)
|
rs2123510810
|
|
NM_000022.4(ADA):c.93C>A (p.Gly31=)
|
|
|
NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)
|
|
|
NM_000022.4(ADA):c.946_947insTGTT (p.Gly316fs)
|
|
|
NM_000022.4(ADA):c.948C>T (p.Gly316=)
|
rs750404746
|
|
NM_000022.4(ADA):c.95+10T>C
|
rs1347064693
|
|
NM_000022.4(ADA):c.95+11A>G
|
|
|
NM_000022.4(ADA):c.95+13A>G
|
|
|
NM_000022.4(ADA):c.95+17G>A
|
|
|
NM_000022.4(ADA):c.95+17G>C
|
|
|
NM_000022.4(ADA):c.95+1G>A
|
rs778343059
|
|
NM_000022.4(ADA):c.954T>C (p.Thr318=)
|
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.96-10T>C
|
|
|
NM_000022.4(ADA):c.96-10T>G
|
rs2145324983
|
|
NM_000022.4(ADA):c.96-12T>C
|
rs2065410397
|
|
NM_000022.4(ADA):c.96-17_96-14del
|
|
|
NM_000022.4(ADA):c.96-20A>C
|
|
|
NM_000022.4(ADA):c.96-3C>T
|
rs771692807
|
|
NM_000022.4(ADA):c.96-6T>C
|
|
|
NM_000022.4(ADA):c.96-7T>C
|
rs2145324973
|
|
NM_000022.4(ADA):c.96G>A (p.Arg32=)
|
|
|
NM_000022.4(ADA):c.970del (p.Arg324fs)
|
rs2065325961
|
|
NM_000022.4(ADA):c.972G>C (p.Arg324Ser)
|
|
|
NM_000022.4(ADA):c.975+10T>C
|
rs373146145
|
|
NM_000022.4(ADA):c.975+13G>A
|
|
|
NM_000022.4(ADA):c.975+13G>C
|
|
|
NM_000022.4(ADA):c.975+15G>C
|
|
|
NM_000022.4(ADA):c.975+18A>T
|
|
|
NM_000022.4(ADA):c.975+19_975+20insG
|
|
|
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.975+7G>C
|
rs2123510571
|
|
NM_000022.4(ADA):c.975+8G>T
|
rs192148185
|
|
NM_000022.4(ADA):c.975+9del
|
rs2123510552
|
|
NM_000022.4(ADA):c.976-10G>A
|
|
|
NM_000022.4(ADA):c.976-14del
|
|
|
NM_000022.4(ADA):c.976-15T>C
|
|
|
NM_000022.4(ADA):c.976-17C>T
|
|
|
NM_000022.4(ADA):c.976-19G>C
|
|
|
NM_000022.4(ADA):c.976-1G>C
|
|
|
NM_000022.4(ADA):c.976-1_979del
|
rs1441174171
|
|
NM_000022.4(ADA):c.976-2A>G
|
|
|
NM_000022.4(ADA):c.976-34G>A
|
rs1194494050
|
|
NM_000022.4(ADA):c.976-4C>G
|
rs757375351
|
|
NM_000022.4(ADA):c.976-8C>A
|
rs2123508190
|
|
NM_000022.4(ADA):c.976-9C>G
|
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|
NM_000022.4(ADA):c.99G>A (p.Arg33=)
|
rs1357860118
|
|
NM_000022.4(ADA):c.[455T>C;478+6T>C]
|
|
|
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
|
|
|
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)
|
rs1424732031
|
|
NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu)
|
rs777493612
|
|
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.*1074G>A
|
rs529708456
|
|
NM_000448.3(RAG1):c.*1083C>T
|
rs4151040
|
|
NM_000448.3(RAG1):c.*1111G>C
|
rs1850870990
|
|
NM_000448.3(RAG1):c.*1277G>A
|
rs1850873586
|
|
NM_000448.3(RAG1):c.*1515T>C
|
rs1850877439
|
|
NM_000448.3(RAG1):c.*1539G>A
|
rs987368823
|
|
NM_000448.3(RAG1):c.*1562A>G
|
rs185464049
|
|
NM_000448.3(RAG1):c.*1611G>A
|
rs886048262
|
|
NM_000448.3(RAG1):c.*1701T>C
|
rs886048263
|
|
NM_000448.3(RAG1):c.*2211C>T
|
rs538916870
|
|
NM_000448.3(RAG1):c.*2442G>A
|
rs886048265
|
|
NM_000448.3(RAG1):c.*2705dup
|
rs4151048
|
|
NM_000448.3(RAG1):c.*2936TAAG[1]
|
rs199555129
|
|
NM_000448.3(RAG1):c.*3122del
|
rs141384582
|
|
NM_000448.3(RAG1):c.*3191T>C
|
rs1159054368
|
|
NM_000448.3(RAG1):c.*362T>C
|
rs946957748
|
|
NM_000448.3(RAG1):c.*363T>C
|
rs1850859738
|
|
NM_000448.3(RAG1):c.*386del
|
rs886048258
|
|
NM_000448.3(RAG1):c.*766A>G
|
rs886048259
|
|
NM_000448.3(RAG1):c.*856C>A
|
rs886048261
|
|
NM_000448.3(RAG1):c.-10C>T
|
rs886048251
|
|
NM_000448.3(RAG1):c.1003T>C (p.Cys335Arg)
|
rs2133294899
|
|
NM_000448.3(RAG1):c.1010C>G (p.Pro337Arg)
|
rs2133294914
|
|
NM_000448.3(RAG1):c.1010del (p.Pro337fs)
|
|
|
NM_000448.3(RAG1):c.1014T>C (p.Thr338=)
|
|
|
NM_000448.3(RAG1):c.1020G>A (p.Leu340=)
|
rs766653036
|
|
NM_000448.3(RAG1):c.1022A>G (p.Glu341Gly)
|
|
|
NM_000448.3(RAG1):c.1029A>G (p.Pro343=)
|
|
|
NM_000448.3(RAG1):c.1032G>A (p.Val344=)
|
rs2133294964
|
|
NM_000448.3(RAG1):c.1039T>A (p.Phe347Ile)
|
|
|
NM_000448.3(RAG1):c.103G>A (p.Val35Met)
|
|
|
NM_000448.3(RAG1):c.1044G>A (p.Leu348=)
|
|
|
NM_000448.3(RAG1):c.1047C>T (p.Ser349=)
|
|
|
NM_000448.3(RAG1):c.1048G>C (p.Val350Leu)
|
rs200758244
|
|
NM_000448.3(RAG1):c.104T>A (p.Val35Glu)
|
rs1414071641
|
|
NM_000448.3(RAG1):c.105G>A (p.Val35=)
|
|
|
NM_000448.3(RAG1):c.1073G>A (p.Cys358Tyr)
|
|
|
NM_000448.3(RAG1):c.1077A>G (p.Pro359=)
|
rs886048253
|
|
NM_000448.3(RAG1):c.1096G>T (p.Glu366Ter)
|
|
|
NM_000448.3(RAG1):c.109T>G (p.Ser37Ala)
|
|
|
NM_000448.3(RAG1):c.1104T>C (p.Ser368=)
|
|
|
NM_000448.3(RAG1):c.1114T>C (p.Tyr372His)
|
rs1850803486
|
|
NM_000448.3(RAG1):c.1116T>C (p.Tyr372=)
|
|
|
NM_000448.3(RAG1):c.1117A>G (p.Asn373Asp)
|
|
|
NM_000448.3(RAG1):c.1127T>C (p.Ile376Thr)
|
|
|
NM_000448.3(RAG1):c.1137del (p.His379fs)
|
|
|
NM_000448.3(RAG1):c.1147A>G (p.Lys383Glu)
|
rs1850804605
|
|
NM_000448.3(RAG1):c.1148_1149del (p.Lys383fs)
|
|
|
NM_000448.3(RAG1):c.117A>G (p.Glu39=)
|
rs2133292749
|
|
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.1188C>G (p.Arg396=)
|
|
|
NM_000448.3(RAG1):c.1197T>C (p.Leu399=)
|
|
|
NM_000448.3(RAG1):c.1203G>A (p.Ser401=)
|
|
|
NM_000448.3(RAG1):c.1203G>C (p.Ser401=)
|
|
|
NM_000448.3(RAG1):c.1203G>T (p.Ser401=)
|
rs753446485
|
|
NM_000448.3(RAG1):c.1206G>A (p.Leu402=)
|
|
|
NM_000448.3(RAG1):c.1209T>A (p.Thr403=)
|
|
|
NM_000448.3(RAG1):c.120G>A (p.Lys40=)
|
|
|
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)
|
rs764981110
|
|
NM_000448.3(RAG1):c.1213A>C (p.Arg405=)
|
|
|
NM_000448.3(RAG1):c.1219C>G (p.Gln407Glu)
|
rs986694616
|
|
NM_000448.3(RAG1):c.1219C>T (p.Gln407Ter)
|
|
|
NM_000448.3(RAG1):c.1231C>T (p.Leu411=)
|
|
|
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro)
|
rs1554944877
|
|
NM_000448.3(RAG1):c.1233G>C (p.Leu411=)
|
|
|
NM_000448.3(RAG1):c.1246C>T (p.Leu416=)
|
rs746944981
|
|
NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser)
|
rs568838996
|
|
NM_000448.3(RAG1):c.126T>C (p.Pro42=)
|
|
|
NM_000448.3(RAG1):c.1280G>A (p.Gly427Asp)
|
|
|
NM_000448.3(RAG1):c.1282G>A (p.Gly428Arg)
|
rs2133295410
|
|
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly)
|
rs104894292
|
|
NM_000448.3(RAG1):c.1296C>T (p.Ser432=)
|
rs977419597
|
|
NM_000448.3(RAG1):c.1297G>A (p.Val433Met)
|
rs199474679
|
|
NM_000448.3(RAG1):c.1297del (p.Val433fs)
|
|
|
NM_000448.3(RAG1):c.129A>G (p.Glu43=)
|
|
|
NM_000448.3(RAG1):c.130G>A (p.Glu44Lys)
|
rs1850778515
|
|
NM_000448.3(RAG1):c.1311G>A (p.Leu437=)
|
|
|
NM_000448.3(RAG1):c.1314C>T (p.Phe438=)
|
|
|
NM_000448.3(RAG1):c.1315C>T (p.Leu439=)
|
|
|
NM_000448.3(RAG1):c.1320G>A (p.Leu440=)
|
|
|
NM_000448.3(RAG1):c.1321G>T (p.Ala441Ser)
|
rs1850809055
|
|
NM_000448.3(RAG1):c.1326G>T (p.Leu442=)
|
|
|
NM_000448.3(RAG1):c.1329G>A (p.Arg443=)
|
|
|
NM_000448.3(RAG1):c.1332G>A (p.Ala444=)
|
|
|
NM_000448.3(RAG1):c.1335G>A (p.Arg445=)
|
|
|
NM_000448.3(RAG1):c.1348C>T (p.Gln450Ter)
|
rs1850809690
|
|
NM_000448.3(RAG1):c.1359G>T (p.Glu453Asp)
|
rs1178216516
|
|
NM_000448.3(RAG1):c.135T>G (p.Ala45=)
|
|
|
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln)
|
rs199474677
|
|
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
|
|
|
NM_000448.3(RAG1):c.1371C>T (p.Ile457=)
|
|
|
NM_000448.3(RAG1):c.1380A>G (p.Gly460=)
|
|
|
NM_000448.3(RAG1):c.1386C>T (p.Gly462=)
|
|
|
NM_000448.3(RAG1):c.1392C>A (p.Gly464=)
|
|
|
NM_000448.3(RAG1):c.1392C>G (p.Gly464=)
|
|
|
NM_000448.3(RAG1):c.1395G>A (p.Leu465=)
|
|
|
NM_000448.3(RAG1):c.1410C>T (p.Cys470=)
|
|
|
NM_000448.3(RAG1):c.1411T>C (p.Leu471=)
|
|
|
NM_000448.3(RAG1):c.1416C>T (p.Ala472=)
|
|
|
NM_000448.3(RAG1):c.1425C>T (p.Val475=)
|
|
|
NM_000448.3(RAG1):c.1428C>T (p.Asn476=)
|
|
|
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly)
|
rs772340017
|
|
NM_000448.3(RAG1):c.1440C>T (p.Ser480=)
|
rs2133295757
|
|
NM_000448.3(RAG1):c.1452C>T (p.Tyr484=)
|
rs1479971460
|
|
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg)
|
rs1850812562
|
|
NM_000448.3(RAG1):c.1465A>G (p.Arg489Gly)
|
|
|
NM_000448.3(RAG1):c.1468A>G (p.Thr490Ala)
|
rs1590703120
|
|
NM_000448.3(RAG1):c.1470T>C (p.Thr490=)
|
|
|
NM_000448.3(RAG1):c.1472T>C (p.Val491Ala)
|
rs1198163896
|
|
NM_000448.3(RAG1):c.1485A>G (p.Thr495=)
|
|
|
NM_000448.3(RAG1):c.1488G>A (p.Gly496=)
|
|
|
NM_000448.3(RAG1):c.1494G>C (p.Gln498His)
|
rs1850813830
|
|
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
|
|
|
NM_000448.3(RAG1):c.150G>A (p.Lys50=)
|
rs1590701604
|
|
NM_000448.3(RAG1):c.1519C>A (p.Arg507=)
|
|
|
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp)
|
rs104894298
|
|
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter)
|
rs759401797
|
|
NM_000448.3(RAG1):c.1534G>A (p.Val512Ile)
|
|
|
NM_000448.3(RAG1):c.1540C>T (p.Leu514=)
|
|
|
NM_000448.3(RAG1):c.1542G>A (p.Leu514=)
|
rs1306263654
|
|
NM_000448.3(RAG1):c.1554C>A (p.His518Gln)
|
rs750551821
|
|
NM_000448.3(RAG1):c.1554C>T (p.His518=)
|
|
|
NM_000448.3(RAG1):c.1557C>G (p.His519Gln)
|
rs2133295987
|
|
NM_000448.3(RAG1):c.1559T>A (p.Phe520Tyr)
|
|
|
NM_000448.3(RAG1):c.1559T>C (p.Phe520Ser)
|
rs1490273597
|
|
NM_000448.3(RAG1):c.1560T>G (p.Phe520Leu)
|
rs61758790
|
|
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
|
|
|
NM_000448.3(RAG1):c.1608C>T (p.Gly536=)
|
|
|
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)
|
rs749256215
|
|
NM_000448.3(RAG1):c.1613T>C (p.Ile538Thr)
|
|
|
NM_000448.3(RAG1):c.1621del (p.Leu541fs)
|
rs1590703275
|
|
NM_000448.3(RAG1):c.1623G>A (p.Leu541=)
|
|
|
NM_000448.3(RAG1):c.162G>A (p.Glu54=)
|
|
|
NM_000448.3(RAG1):c.1630C>T (p.Leu544=)
|
|
|
NM_000448.3(RAG1):c.1638C>T (p.Ser546=)
|
rs1850817385
|
|
NM_000448.3(RAG1):c.1653C>G (p.Tyr551Ter)
|
|
|
NM_000448.3(RAG1):c.1653C>T (p.Tyr551=)
|
|
|
NM_000448.3(RAG1):c.1655C>G (p.Pro552Arg)
|
|
|
NM_000448.3(RAG1):c.1661A>G (p.Asp554Gly)
|
rs1850817619
|
|
NM_000448.3(RAG1):c.1661A>T (p.Asp554Val)
|
rs1850817619
|
|
NM_000448.3(RAG1):c.1677G>A (p.Arg559=)
|
|
|
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser)
|
rs199474681
|
|
NM_000448.3(RAG1):c.1692A>C (p.Ser564=)
|
|
|
NM_000448.3(RAG1):c.1696T>C (p.Leu566=)
|
|
|
NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter)
|
|
|
NM_000448.3(RAG1):c.1736A>G (p.Glu579Gly)
|
|
|
NM_000448.3(RAG1):c.1746A>G (p.Arg582=)
|
|
|
NM_000448.3(RAG1):c.174T>C (p.Ser58=)
|
|
|
NM_000448.3(RAG1):c.1753G>A (p.Asp585Asn)
|
|
|
NM_000448.3(RAG1):c.1758_1760delinsGAATC (p.Asp587fs)
|
|
|
NM_000448.3(RAG1):c.175C>T (p.Leu59=)
|
|
|
NM_000448.3(RAG1):c.1761T>G (p.Asp587Glu)
|
rs1554944973
|
|
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter)
|
rs991089005
|
|
NM_000448.3(RAG1):c.1767C>T (p.Tyr589=)
|
|
|
NM_000448.3(RAG1):c.1768C>T (p.Leu590=)
|
|
|
NM_000448.3(RAG1):c.1770G>T (p.Leu590=)
|
rs1850820804
|
|
NM_000448.3(RAG1):c.1786G>A (p.Val596Met)
|
rs1850820995
|
|
NM_000448.3(RAG1):c.1798del (p.Glu600fs)
|
rs2133296385
|
|
NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)
|
|
|
NM_000448.3(RAG1):c.1801T>G (p.Ser601Ala)
|
rs145951370
|
|
NM_000448.3(RAG1):c.181C>T (p.Gln61Ter)
|
|
|
NM_000448.3(RAG1):c.1835A>G (p.His612Arg)
|
rs1850821995
|
|
NM_000448.3(RAG1):c.1836T>C (p.His612=)
|
|
|
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
|
|
|
NM_000448.3(RAG1):c.1864del (p.Ala622fs)
|
rs1564989455
|
|
NM_000448.3(RAG1):c.1866A>C (p.Ala622=)
|
|
|
NM_000448.3(RAG1):c.186T>G (p.Ser62=)
|
|
|
NM_000448.3(RAG1):c.1875T>C (p.Phe625=)
|
|
|
NM_000448.3(RAG1):c.1875T>G (p.Phe625Leu)
|
rs749669514
|
|
NM_000448.3(RAG1):c.187C>G (p.Pro63Ala)
|
rs1850780083
|
|
NM_000448.3(RAG1):c.187C>T (p.Pro63Ser)
|
rs1850780083
|
|
NM_000448.3(RAG1):c.1884A>T (p.Thr628=)
|
|
|
NM_000448.3(RAG1):c.1897A>G (p.Thr633Ala)
|
rs2133296552
|
|
NM_000448.3(RAG1):c.189A>T (p.Pro63=)
|
|
|
NM_000448.3(RAG1):c.1902T>C (p.Ile634=)
|
|
|
NM_000448.3(RAG1):c.1903G>T (p.Ala635Ser)
|
rs1322150766
|
|
NM_000448.3(RAG1):c.191C>T (p.Ala64Val)
|
rs1564988004
|
|
NM_000448.3(RAG1):c.193G>A (p.Val65Ile)
|
rs750032999
|
|
NM_000448.3(RAG1):c.1970C>T (p.Pro657Leu)
|
|
|
NM_000448.3(RAG1):c.1980T>C (p.Leu660=)
|
|
|
NM_000448.3(RAG1):c.1981A>G (p.Met661Val)
|
|
|
NM_000448.3(RAG1):c.1989A>C (p.Ala663=)
|
|
|
NM_000448.3(RAG1):c.1992T>A (p.Asp664Glu)
|
|
|
NM_000448.3(RAG1):c.2004C>G (p.His668Gln)
|
|
|
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys)
|
rs878853004
|
|
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly)
|
rs199474689
|
|
NM_000448.3(RAG1):c.2010G>A (p.Thr670=)
|
|
|
NM_000448.3(RAG1):c.2011C>T (p.Leu671=)
|
rs2133296754
|
|
NM_000448.3(RAG1):c.2018_2691delinsGCG (p.Ala673fs)
|
|
|
NM_000448.3(RAG1):c.2020A>G (p.Ile674Val)
|
|
|
NM_000448.3(RAG1):c.2023C>G (p.Leu675Val)
|
|
|
NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala)
|
rs773165685
|
|
NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs)
|
|
|
NM_000448.3(RAG1):c.2056A>G (p.Lys686Glu)
|
rs2133296841
|
|
NM_000448.3(RAG1):c.2065G>A (p.Glu689Lys)
|
rs2133296872
|
|
NM_000448.3(RAG1):c.2065G>T (p.Glu689Ter)
|
|
|
NM_000448.3(RAG1):c.206del (p.Ala69fs)
|
|
|
NM_000448.3(RAG1):c.2076T>C (p.Leu692=)
|
|
|
NM_000448.3(RAG1):c.2087G>A (p.Gly696Asp)
|
rs1850828185
|
|
NM_000448.3(RAG1):c.2088C>A (p.Gly696=)
|
|
|
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln)
|
|
|
NM_000448.3(RAG1):c.2112C>T (p.Ile704=)
|
|
|
NM_000448.3(RAG1):c.2118G>A (p.Arg706=)
|
rs2133296964
|
|
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser)
|
|
|
NM_000448.3(RAG1):c.2126G>C (p.Gly709Ala)
|
rs1850829046
|
|
NM_000448.3(RAG1):c.2139A>G (p.Lys713=)
|
|
|
NM_000448.3(RAG1):c.213T>C (p.Gly71=)
|
|
|
NM_000448.3(RAG1):c.2140C>T (p.Leu714Phe)
|
rs1590703656
|
|
NM_000448.3(RAG1):c.2143del (p.Val715fs)
|
|
|
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln)
|
rs1064793248
|
|
NM_000448.3(RAG1):c.215A>G (p.Gln72Arg)
|
rs781240450
|
|
NM_000448.3(RAG1):c.2160C>G (p.Gly720=)
|
|
|
NM_000448.3(RAG1):c.2160C>T (p.Gly720=)
|
|
|
NM_000448.3(RAG1):c.2178A>G (p.Ser726=)
|
|
|
NM_000448.3(RAG1):c.2181C>A (p.Val727=)
|
|
|
NM_000448.3(RAG1):c.2182T>C (p.Tyr728His)
|
rs1564989655
|
|
NM_000448.3(RAG1):c.2185A>C (p.Ile729Leu)
|
rs201192233
|
|
NM_000448.3(RAG1):c.2185A>G (p.Ile729Val)
|
rs201192233
|
|
NM_000448.3(RAG1):c.2187T>G (p.Ile729Met)
|
rs2133297090
|
|
NM_000448.3(RAG1):c.2196T>C (p.Leu732=)
|
|
|
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.219G>A (p.Lys73=)
|
|
|
NM_000448.3(RAG1):c.2202T>C (p.Asp734=)
|
rs2133297123
|
|
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
|
|
|
NM_000448.3(RAG1):c.2228del (p.Asn743fs)
|
|
|
NM_000448.3(RAG1):c.2235C>T (p.Val745=)
|
rs1850831770
|
|
NM_000448.3(RAG1):c.2248A>T (p.Thr750Ser)
|
rs1850832170
|
|
NM_000448.3(RAG1):c.2250C>G (p.Thr750=)
|
|
|
NM_000448.3(RAG1):c.2251del (p.Arg751fs)
|
|
|
NM_000448.3(RAG1):c.2256C>T (p.Ser752=)
|
|
|
NM_000448.3(RAG1):c.2258A>G (p.His753Arg)
|
|
|
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)
|
rs749027430
|
|
NM_000448.3(RAG1):c.2276G>A (p.Arg759His)
|
rs770953505
|
|
NM_000448.3(RAG1):c.2286C>G (p.Val762=)
|
|
|
NM_000448.3(RAG1):c.228A>G (p.Pro76=)
|
|
|
NM_000448.3(RAG1):c.2293T>A (p.Ser765Thr)
|
|
|
NM_000448.3(RAG1):c.2306A>G (p.His769Arg)
|
|
|
NM_000448.3(RAG1):c.2307T>C (p.His769=)
|
|
|
NM_000448.3(RAG1):c.2313T>C (p.Ser771=)
|
|
|
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter)
|
rs104894282
|
|
NM_000448.3(RAG1):c.2326C>A (p.Arg776=)
|
|
|
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
|
|
|
NM_000448.3(RAG1):c.2332C>A (p.Arg778=)
|
|
|
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp)
|
rs752020152
|
|
NM_000448.3(RAG1):c.2343G>A (p.Gly781=)
|
|
|
NM_000448.3(RAG1):c.2343G>T (p.Gly781=)
|
rs961233109
|
|
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
|
|
|
NM_000448.3(RAG1):c.2376T>A (p.Pro792=)
|
rs2133297416
|
|
NM_000448.3(RAG1):c.237A>G (p.Pro79=)
|
|
|
NM_000448.3(RAG1):c.238T>C (p.Leu80=)
|
|
|
NM_000448.3(RAG1):c.2391C>T (p.Leu797=)
|
|
|
NM_000448.3(RAG1):c.2393A>G (p.His798Arg)
|
rs2133297434
|
|
NM_000448.3(RAG1):c.2396G>A (p.Cys799Tyr)
|
rs2133297443
|
|
NM_000448.3(RAG1):c.2410del (p.Ala804fs)
|
|
|
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val)
|
rs2133297485
|
|
NM_000448.3(RAG1):c.2418G>A (p.Glu806=)
|
|
|
NM_000448.3(RAG1):c.2428A>T (p.Ile810Phe)
|
|
|
NM_000448.3(RAG1):c.2434C>T (p.Gln812Ter)
|
|
|
NM_000448.3(RAG1):c.2439A>G (p.Leu813=)
|
|
|
NM_000448.3(RAG1):c.243A>G (p.Leu81=)
|
|
|
NM_000448.3(RAG1):c.2444T>C (p.Ile815Thr)
|
rs1251259946
|
|
NM_000448.3(RAG1):c.2446G>T (p.Gly816Trp)
|
rs1850836485
|
|
NM_000448.3(RAG1):c.2448G>A (p.Gly816=)
|
rs1850836600
|
|
NM_000448.3(RAG1):c.2449G>T (p.Glu817Ter)
|
|
|
NM_000448.3(RAG1):c.2449del (p.Glu817fs)
|
|
|
NM_000448.3(RAG1):c.2458A>G (p.Lys820Glu)
|
rs1429787378
|
|
NM_000448.3(RAG1):c.2463T>C (p.Asn821=)
|
|
|
NM_000448.3(RAG1):c.2468A>C (p.Asn823Thr)
|
rs147656090
|
|
NM_000448.3(RAG1):c.2468A>G (p.Asn823Ser)
|
rs147656090
|
|
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.248C>T (p.Ala83Val)
|
rs1590701723
|
|
NM_000448.3(RAG1):c.2490A>G (p.Lys830=)
|
|
|
NM_000448.3(RAG1):c.2497C>T (p.Gln833Ter)
|
|
|
NM_000448.3(RAG1):c.2506C>T (p.Leu836=)
|
rs757133059
|
|
NM_000448.3(RAG1):c.2520C>G (p.Leu840=)
|
|
|
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
|
|
|
NM_000448.3(RAG1):c.252C>T (p.His84=)
|
|
|
NM_000448.3(RAG1):c.253C>T (p.Pro85Ser)
|
rs754321019
|
|
NM_000448.3(RAG1):c.2545A>G (p.Ile849Val)
|
|
|
NM_000448.3(RAG1):c.2551A>C (p.Arg851=)
|
|
|
NM_000448.3(RAG1):c.2557_2560dup (p.Gly854fs)
|
|
|
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)
|
|
|
NM_000448.3(RAG1):c.2580C>T (p.Leu860=)
|
|
|
NM_000448.3(RAG1):c.2598G>A (p.Val866=)
|
|
|
NM_000448.3(RAG1):c.2605G>T (p.Val869Phe)
|
rs201313833
|
|
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.2625C>G (p.Ser875=)
|
rs200264827
|
|
NM_000448.3(RAG1):c.2625C>T (p.Ser875=)
|
rs200264827
|
|
NM_000448.3(RAG1):c.2627del (p.Glu876fs)
|
|
|
NM_000448.3(RAG1):c.2646G>A (p.Leu882=)
|
|
|
NM_000448.3(RAG1):c.264A>T (p.Ser88=)
|
|
|
NM_000448.3(RAG1):c.2652G>A (p.Glu884=)
|
|
|
NM_000448.3(RAG1):c.2661T>C (p.Asp887=)
|
|
|
NM_000448.3(RAG1):c.2665T>C (p.Tyr889His)
|
rs2133297952
|
|
NM_000448.3(RAG1):c.2668C>T (p.Leu890=)
|
|
|
NM_000448.3(RAG1):c.2685A>G (p.Val895=)
|
|
|
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)
|
rs1064793249
|
|
NM_000448.3(RAG1):c.2692T>C (p.Ser898Pro)
|
|
|
NM_000448.3(RAG1):c.2700C>T (p.Cys900=)
|
|
|
NM_000448.3(RAG1):c.2709A>G (p.Lys903=)
|
rs1850844060
|
|
NM_000448.3(RAG1):c.2730C>T (p.Cys910=)
|
|
|
NM_000448.3(RAG1):c.2732A>G (p.Gln911Arg)
|
|
|
NM_000448.3(RAG1):c.2733G>C (p.Gln911His)
|
rs2133298067
|
|
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys)
|
rs104894290
|
|
NM_000448.3(RAG1):c.2736C>T (p.Tyr912=)
|
|
|
NM_000448.3(RAG1):c.2736_2737del (p.Tyr912_Ser913delinsTer)
|
rs1317208073
|
|
NM_000448.3(RAG1):c.2738G>A (p.Ser913Asn)
|
|
|
NM_000448.3(RAG1):c.2742C>T (p.Phe914=)
|
|
|
NM_000448.3(RAG1):c.2745T>C (p.Asn915=)
|
|
|
NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter)
|
rs1850845029
|
|
NM_000448.3(RAG1):c.276C>A (p.His92Gln)
|
rs550985019
|
|
NM_000448.3(RAG1):c.276C>T (p.His92=)
|
rs550985019
|
|
NM_000448.3(RAG1):c.2775G>A (p.Thr925=)
|
|
|
NM_000448.3(RAG1):c.2778G>A (p.Lys926=)
|
|
|
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser)
|
|
|
NM_000448.3(RAG1):c.27G>A (p.Leu9=)
|
|
|
NM_000448.3(RAG1):c.2803del (p.Ile935fs)
|
|
|
NM_000448.3(RAG1):c.2805C>T (p.Ile935=)
|
|
|
NM_000448.3(RAG1):c.2808C>T (p.Thr936=)
|
|
|
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter)
|
rs104894283
|
|
NM_000448.3(RAG1):c.2824A>T (p.Thr942Ser)
|
rs1850846848
|
|
NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile)
|
rs762625040
|
|
NM_000448.3(RAG1):c.2832C>A (p.Ala944=)
|
|
|
NM_000448.3(RAG1):c.2832C>G (p.Ala944=)
|
rs756495943
|
|
NM_000448.3(RAG1):c.2834A>G (p.His945Arg)
|
rs1850847083
|
|
NM_000448.3(RAG1):c.2835T>C (p.His945=)
|
|
|
NM_000448.3(RAG1):c.284A>C (p.Glu95Ala)
|
|
|
NM_000448.3(RAG1):c.284A>G (p.Glu95Gly)
|
|
|
NM_000448.3(RAG1):c.2850del (p.Ile950fs)
|
rs2133298263
|
|
NM_000448.3(RAG1):c.2861G>T (p.Gly954Val)
|
rs1850847509
|
|
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter)
|
rs1850847819
|
|
NM_000448.3(RAG1):c.2878G>T (p.Ala960Ser)
|
rs897086171
|
|
NM_000448.3(RAG1):c.2882G>A (p.Ser961Asn)
|
|
|
NM_000448.3(RAG1):c.2882_2891del (p.Ser961fs)
|
rs1195475275
|
|
NM_000448.3(RAG1):c.2889A>G (p.Gly963=)
|
|
|
NM_000448.3(RAG1):c.2903_2907del (p.Asn968fs)
|
|
|
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)
|
rs193922463
|
|
NM_000448.3(RAG1):c.2904C>T (p.Asn968=)
|
|
|
NM_000448.3(RAG1):c.2910G>A (p.Leu970=)
|
|
|
NM_000448.3(RAG1):c.2917C>A (p.Arg973Ser)
|
rs1389614116
|
|
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
|
|
|
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro)
|
rs1384545687
|
|
NM_000448.3(RAG1):c.291A>C (p.Ala97=)
|
|
|
NM_000448.3(RAG1):c.2925G>A (p.Arg975=)
|
|
|
NM_000448.3(RAG1):c.2925G>T (p.Arg975=)
|
|
|
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro)
|
rs104894288
|
|
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr)
|
rs1245287257
|
|
NM_000448.3(RAG1):c.2949A>G (p.Lys983=)
|
|
|
NM_000448.3(RAG1):c.2968G>A (p.Val990Ile)
|
rs886048255
|
|
NM_000448.3(RAG1):c.2970C>A (p.Val990=)
|
rs2133298485
|
|
NM_000448.3(RAG1):c.297C>G (p.Gly99=)
|
|
|
NM_000448.3(RAG1):c.297C>T (p.Gly99=)
|
|
|
NM_000448.3(RAG1):c.2988G>A (p.Leu996=)
|
|
|
NM_000448.3(RAG1):c.2988G>T (p.Leu996Phe)
|
rs1388654836
|
|
NM_000448.3(RAG1):c.2994C>T (p.Thr998=)
|
|
|
NM_000448.3(RAG1):c.3009G>T (p.Gln1003His)
|
rs1850850782
|
|
NM_000448.3(RAG1):c.3012G>A (p.Lys1004=)
|
rs1850850830
|
|
NM_000448.3(RAG1):c.3019A>G (p.Asn1007Asp)
|
rs2133298602
|
|
NM_000448.3(RAG1):c.3021T>G (p.Asn1007Lys)
|
|
|
NM_000448.3(RAG1):c.3033A>C (p.Ala1011=)
|
|
|
NM_000448.3(RAG1):c.303G>T (p.Ala101=)
|
|
|
NM_000448.3(RAG1):c.3042C>T (p.Thr1014=)
|
rs1850851517
|
|
NM_000448.3(RAG1):c.3047G>A (p.Gly1016Glu)
|
|
|
NM_000448.3(RAG1):c.3054C>T (p.Thr1018=)
|
|
|
NM_000448.3(RAG1):c.3056T>C (p.Met1019Thr)
|
rs1471962137
|
|
NM_000448.3(RAG1):c.305_312del (p.Ile102fs)
|
|
|
NM_000448.3(RAG1):c.3060C>T (p.Asn1020=)
|
|
|
NM_000448.3(RAG1):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000448.3(RAG1):c.3069A>G (p.Ala1023=)
|
|
|
NM_000448.3(RAG1):c.3071G>A (p.Ser1024Asn)
|
|
|
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs)
|
rs1564990390
|
|
NM_000448.3(RAG1):c.3078G>T (p.Gly1026=)
|
|
|
NM_000448.3(RAG1):c.3081C>T (p.Asp1027=)
|
|
|
NM_000448.3(RAG1):c.3083C>A (p.Pro1028Gln)
|
rs771708758
|
|
NM_000448.3(RAG1):c.3084A>T (p.Pro1028=)
|
|
|
NM_000448.3(RAG1):c.3094G>C (p.Glu1032Gln)
|
|
|
NM_000448.3(RAG1):c.3096G>A (p.Glu1032=)
|
|
|
NM_000448.3(RAG1):c.3098A>G (p.Asp1033Gly)
|
|
|
NM_000448.3(RAG1):c.3103C>T (p.Leu1035=)
|
|
|
NM_000448.3(RAG1):c.3106G>C (p.Glu1036Gln)
|
rs1850853178
|
|
NM_000448.3(RAG1):c.310C>G (p.Gln104Glu)
|
rs991160720
|
|
NM_000448.3(RAG1):c.3120A>G (p.Ser1040=)
|
|
|
NM_000448.3(RAG1):c.3121A>G (p.Met1041Val)
|
|
|
NM_000448.3(RAG1):c.3126A>G (p.Glu1042=)
|
|
|
NM_000448.3(RAG1):c.318C>A (p.Asn106Lys)
|
rs367725290
|
|
NM_000448.3(RAG1):c.319C>T (p.Leu107Phe)
|
rs144019501
|
|
NM_000448.3(RAG1):c.335G>T (p.Arg112Leu)
|
rs749223640
|
|
NM_000448.3(RAG1):c.336dup (p.Ile113fs)
|
|
|
NM_000448.3(RAG1):c.337A>G (p.Ile113Val)
|
rs2133293304
|
|
NM_000448.3(RAG1):c.340T>C (p.Cys114Arg)
|
|
|
NM_000448.3(RAG1):c.354T>A (p.Phe118Leu)
|
rs1850784411
|
|
NM_000448.3(RAG1):c.354del (p.Phe118fs)
|
|
|
NM_000448.3(RAG1):c.360_367del (p.Asp121fs)
|
rs1590701881
|
|
NM_000448.3(RAG1):c.362A>C (p.Asp121Ala)
|
rs780167146
|
|
NM_000448.3(RAG1):c.365A>T (p.Glu122Val)
|
rs1266530796
|
|
NM_000448.3(RAG1):c.371del (p.Asn124fs)
|
|
|
NM_000448.3(RAG1):c.375G>A (p.Arg125=)
|
|
|
NM_000448.3(RAG1):c.382C>T (p.Pro128Ser)
|
rs886048252
|
|
NM_000448.3(RAG1):c.386T>G (p.Val129Gly)
|
rs1168709961
|
|
NM_000448.3(RAG1):c.399G>A (p.Val133=)
|
rs1850785748
|
|
NM_000448.3(RAG1):c.404dup (p.Gly135_Lys136insTer)
|
|
|
NM_000448.3(RAG1):c.40G>A (p.Ala14Thr)
|
rs765396585
|
|
NM_000448.3(RAG1):c.412C>T (p.Leu138=)
|
|
|
NM_000448.3(RAG1):c.418_419del (p.Leu140fs)
|
|
|
NM_000448.3(RAG1):c.420T>C (p.Leu140=)
|
|
|
NM_000448.3(RAG1):c.426A>C (p.Arg142=)
|
|
|
NM_000448.3(RAG1):c.432G>A (p.Lys144=)
|
rs144430517
|
|
NM_000448.3(RAG1):c.432G>T (p.Lys144Asn)
|
rs144430517
|
|
NM_000448.3(RAG1):c.440G>C (p.Arg147Thr)
|
rs2133293492
|
|
NM_000448.3(RAG1):c.456G>A (p.Pro152=)
|
rs368797111
|
|
NM_000448.3(RAG1):c.456G>T (p.Pro152=)
|
rs368797111
|
|
NM_000448.3(RAG1):c.461T>C (p.Leu154Pro)
|
|
|
NM_000448.3(RAG1):c.463A>G (p.Ile155Val)
|
rs2133293541
|
|
NM_000448.3(RAG1):c.466G>A (p.Ala156Thr)
|
|
|
NM_000448.3(RAG1):c.468C>T (p.Ala156=)
|
rs2133293553
|
|
NM_000448.3(RAG1):c.472G>A (p.Val158Ile)
|
rs2133293572
|
|
NM_000448.3(RAG1):c.483C>A (p.Ile161=)
|
|
|
NM_000448.3(RAG1):c.483C>T (p.Ile161=)
|
|
|
NM_000448.3(RAG1):c.486T>C (p.Asp162=)
|
rs753042511
|
|
NM_000448.3(RAG1):c.487G>T (p.Val163Leu)
|
|
|
NM_000448.3(RAG1):c.489G>A (p.Val163=)
|
|
|
NM_000448.3(RAG1):c.491A>G (p.Lys164Arg)
|
|
|
NM_000448.3(RAG1):c.495A>C (p.Ala165=)
|
rs1288754505
|
|
NM_000448.3(RAG1):c.498T>C (p.Asp166=)
|
|
|
NM_000448.3(RAG1):c.499G>A (p.Val167Ile)
|
|
|
NM_000448.3(RAG1):c.506C>T (p.Ser169Leu)
|
rs4151027
|
|
NM_000448.3(RAG1):c.517A>T (p.Thr173Ser)
|
rs1424812134
|
|
NM_000448.3(RAG1):c.519T>A (p.Thr173=)
|
|
|
NM_000448.3(RAG1):c.519del (p.Glu174fs)
|
rs1241698978
|
|
NM_000448.3(RAG1):c.522G>A (p.Glu174=)
|
|
|
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
|
|
|
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)
|
|
|
NM_000448.3(RAG1):c.546C>T (p.Ile182=)
|
|
|
NM_000448.3(RAG1):c.54del (p.Gln19fs)
|
|
|
NM_000448.3(RAG1):c.555del (p.Lys186fs)
|
rs786205615
|
|
NM_000448.3(RAG1):c.558G>A (p.Lys186=)
|
|
|
NM_000448.3(RAG1):c.561T>A (p.Phe187Leu)
|
|
|
NM_000448.3(RAG1):c.561T>C (p.Phe187=)
|
|
|
NM_000448.3(RAG1):c.569C>A (p.Ala190Asp)
|
rs2133293827
|
|
NM_000448.3(RAG1):c.570C>T (p.Ala190=)
|
|
|
NM_000448.3(RAG1):c.579G>A (p.Glu193=)
|
|
|
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
|
|
|
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter)
|
|
|
NM_000448.3(RAG1):c.615C>T (p.His205=)
|
rs760237407
|
|
NM_000448.3(RAG1):c.618C>G (p.Pro206=)
|
|
|
NM_000448.3(RAG1):c.621C>T (p.His207=)
|
|
|
NM_000448.3(RAG1):c.624A>C (p.Thr208=)
|
|
|
NM_000448.3(RAG1):c.625C>A (p.Pro209Thr)
|
rs867348931
|
|
NM_000448.3(RAG1):c.627A>G (p.Pro209=)
|
|
|
NM_000448.3(RAG1):c.630C>G (p.Ser210=)
|
|
|
NM_000448.3(RAG1):c.633T>C (p.Cys211=)
|
rs2133293994
|
|
NM_000448.3(RAG1):c.63A>C (p.Pro21=)
|
|
|
NM_000448.3(RAG1):c.645C>T (p.Asn215=)
|
|
|
NM_000448.3(RAG1):c.648T>A (p.Thr216=)
|
rs762860350
|
|
NM_000448.3(RAG1):c.649G>A (p.Ala217Thr)
|
|
|
NM_000448.3(RAG1):c.650C>A (p.Ala217Asp)
|
|
|
NM_000448.3(RAG1):c.656G>T (p.Arg219Leu)
|
rs764179803
|
|
NM_000448.3(RAG1):c.659del (p.Gly220fs)
|
|
|
NM_000448.3(RAG1):c.660A>G (p.Gly220=)
|
|
|
NM_000448.3(RAG1):c.663C>T (p.Leu221=)
|
|
|
NM_000448.3(RAG1):c.669G>A (p.Arg223=)
|
|
|
NM_000448.3(RAG1):c.66T>C (p.His22=)
|
|
|
NM_000448.3(RAG1):c.688T>C (p.Leu230=)
|
|
|
NM_000448.3(RAG1):c.691C>T (p.Gln231Ter)
|
|
|
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
|
|
|
NM_000448.3(RAG1):c.739C>G (p.Arg247Gly)
|
rs147203889
|
|
NM_000448.3(RAG1):c.739C>T (p.Arg247Cys)
|
rs147203889
|
|
NM_000448.3(RAG1):c.740G>T (p.Arg247Leu)
|
rs4151029
|
|
NM_000448.3(RAG1):c.741T>G (p.Arg247=)
|
|
|
NM_000448.3(RAG1):c.753A>G (p.Arg251=)
|
|
|
NM_000448.3(RAG1):c.754A>C (p.Arg252=)
|
|
|
NM_000448.3(RAG1):c.775del (p.Ser259fs)
|
rs878853031
|
|
NM_000448.3(RAG1):c.776G>T (p.Ser259Ile)
|
|
|
NM_000448.3(RAG1):c.777C>T (p.Ser259=)
|
|
|
NM_000448.3(RAG1):c.78A>G (p.Ser26=)
|
rs1590701535
|
|
NM_000448.3(RAG1):c.791AGA[1] (p.Lys265del)
|
rs766378998
|
|
NM_000448.3(RAG1):c.798C>T (p.Ile266=)
|
|
|
NM_000448.3(RAG1):c.800C>G (p.Ala267Gly)
|
rs1002699516
|
|
NM_000448.3(RAG1):c.803A>C (p.Asn268Thr)
|
|
|
NM_000448.3(RAG1):c.804C>T (p.Asn268=)
|
|
|
NM_000448.3(RAG1):c.820dup (p.Leu274fs)
|
|
|
NM_000448.3(RAG1):c.825T>C (p.Ser275=)
|
|
|
NM_000448.3(RAG1):c.826A>G (p.Thr276Ala)
|
rs2133294507
|
|
NM_000448.3(RAG1):c.834C>T (p.Leu278=)
|
|
|
NM_000448.3(RAG1):c.840A>G (p.Ala280=)
|
|
|
NM_000448.3(RAG1):c.843G>A (p.Val281=)
|
|
|
NM_000448.3(RAG1):c.851C>T (p.Pro284Leu)
|
rs1554944775
|
|
NM_000448.3(RAG1):c.869C>T (p.Ser290Phe)
|
|
|
NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)
|
|
|
NM_000448.3(RAG1):c.870C>T (p.Ser290=)
|
|
|
NM_000448.3(RAG1):c.875C>G (p.Ser292Cys)
|
rs1225342881
|
|
NM_000448.3(RAG1):c.876C>A (p.Ser292=)
|
|
|
NM_000448.3(RAG1):c.882G>T (p.Gln294His)
|
|
|
NM_000448.3(RAG1):c.887G>C (p.Cys296Ser)
|
rs2133294646
|
|
NM_000448.3(RAG1):c.888T>C (p.Cys296=)
|
|
|
NM_000448.3(RAG1):c.918C>G (p.Thr306=)
|
|
|
NM_000448.3(RAG1):c.920A>G (p.Asn307Ser)
|
|
|
NM_000448.3(RAG1):c.924T>C (p.Cys308=)
|
|
|
NM_000448.3(RAG1):c.937del (p.Cys313fs)
|
|
|
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp)
|
rs121918568
|
|
NM_000448.3(RAG1):c.941G>A (p.Arg314Gln)
|
|
|
NM_000448.3(RAG1):c.946T>A (p.Cys316Ser)
|
|
|
NM_000448.3(RAG1):c.954C>T (p.Leu318=)
|
rs752257404
|
|
NM_000448.3(RAG1):c.963C>G (p.Leu321=)
|
|
|
NM_000448.3(RAG1):c.970A>G (p.Met324Val)
|
|
|
NM_000448.3(RAG1):c.974G>A (p.Gly325Asp)
|
|
|
NM_000448.3(RAG1):c.980A>G (p.Tyr327Cys)
|
|
|
NM_000448.3(RAG1):c.987del (p.Ser330fs)
|
rs1564988767
|
|
NM_000448.3(RAG1):c.98T>A (p.Phe33Tyr)
|
rs2133292699
|
|
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)
|
rs568867325
|
|
NM_000448.3(RAG1):c.9C>T (p.Ala3=)
|
|
|
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
|
|
|
NM_000536.4(RAG2):c.*136A>C
|
rs763674526
|
|
NM_000536.4(RAG2):c.*33G>T
|
rs886048270
|
|
NM_000536.4(RAG2):c.*522C>G
|
rs886048267
|
|
NM_000536.4(RAG2):c.*72T>C
|
rs886048269
|
|
NM_000536.4(RAG2):c.*90T>G
|
rs886048268
|
|
NM_000536.4(RAG2):c.1005T>C (p.Asn335=)
|
|
|
NM_000536.4(RAG2):c.1020A>C (p.Ser340=)
|
rs2133312644
|
|
NM_000536.4(RAG2):c.1024G>T (p.Gly342Ter)
|
|
|
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu)
|
rs367615315
|
|
NM_000536.4(RAG2):c.102del (p.Gly35fs)
|
|
|
NM_000536.4(RAG2):c.1037A>G (p.Tyr346Cys)
|
rs752759155
|
|
NM_000536.4(RAG2):c.1038T>A (p.Tyr346Ter)
|
|
|
NM_000536.4(RAG2):c.1038T>C (p.Tyr346=)
|
rs1174918583
|
|
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser)
|
|
|
NM_000536.4(RAG2):c.1046A>G (p.Lys349Arg)
|
|
|
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.1062T>C (p.Asp354=)
|
|
|
NM_000536.4(RAG2):c.1068T>C (p.Asn356=)
|
|
|
NM_000536.4(RAG2):c.1076A>G (p.Gln359Arg)
|
|
|
NM_000536.4(RAG2):c.1081A>G (p.Thr361Ala)
|
|
|
NM_000536.4(RAG2):c.1086C>G (p.Phe362Leu)
|
rs1851061517
|
|
NM_000536.4(RAG2):c.1096C>G (p.Gln366Glu)
|
|
|
NM_000536.4(RAG2):c.109C>T (p.Pro37Ser)
|
|
|
NM_000536.4(RAG2):c.1104_1321del (p.Thr369fs)
|
|
|
NM_000536.4(RAG2):c.1109A>G (p.Glu370Gly)
|
rs1851060950
|
|
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu)
|
rs1851104914
|
|
NM_000536.4(RAG2):c.1117G>A (p.Gly373Arg)
|
|
|
NM_000536.4(RAG2):c.111C>A (p.Pro37=)
|
rs1851104820
|
|
NM_000536.4(RAG2):c.1127C>G (p.Thr376Ser)
|
rs192958391
|
|
NM_000536.4(RAG2):c.1130C>T (p.Pro377Leu)
|
|
|
NM_000536.4(RAG2):c.1131del (p.Phe378fs)
|
|
|
NM_000536.4(RAG2):c.1140C>T (p.Asp380=)
|
rs1851059503
|
|
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)
|
|
|
NM_000536.4(RAG2):c.1145A>G (p.Glu382Gly)
|
|
|
NM_000536.4(RAG2):c.1149A>G (p.Glu383=)
|
|
|
NM_000536.4(RAG2):c.114A>G (p.Lys38=)
|
|
|
NM_000536.4(RAG2):c.1158C>T (p.Phe386=)
|
|
|
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)
|
rs121917897
|
|
NM_000536.4(RAG2):c.1164A>G (p.Ala388=)
|
rs1230311707
|
|
NM_000536.4(RAG2):c.116G>T (p.Arg39Ile)
|
rs2133316269
|
|
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del)
|
rs567942993
|
|
NM_000536.4(RAG2):c.1196T>C (p.Phe399Ser)
|
rs1851056904
|
|
NM_000536.4(RAG2):c.119C>T (p.Ser40Phe)
|
|
|
NM_000536.4(RAG2):c.1210G>T (p.Glu404Ter)
|
|
|
NM_000536.4(RAG2):c.1221A>G (p.Glu407=)
|
rs2133311856
|
|
NM_000536.4(RAG2):c.1221AGA[1] (p.Glu408del)
|
rs1485140631
|
|
NM_000536.4(RAG2):c.1227T>C (p.Asp409=)
|
|
|
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr)
|
|
|
NM_000536.4(RAG2):c.1230G>A (p.Glu410=)
|
|
|
NM_000536.4(RAG2):c.1236G>A (p.Glu412=)
|
|
|
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)
|
rs121917895
|
|
NM_000536.4(RAG2):c.123C>T (p.Cys41=)
|
|
|
NM_000536.4(RAG2):c.1240_1241delinsAA (p.Gly414Asn)
|
rs2133311785
|
|
NM_000536.4(RAG2):c.1242C>A (p.Gly414=)
|
rs2133311776
|
|
NM_000536.4(RAG2):c.1245C>T (p.Tyr415=)
|
rs2133311764
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000536.4(RAG2):c.1251T>A (p.Ile417=)
|
rs748248673
|
|
NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp)
|
|
|
NM_000536.4(RAG2):c.125C>T (p.Pro42Leu)
|
rs2133316235
|
|
NM_000536.4(RAG2):c.1269T>C (p.Cys423=)
|
|
|
NM_000536.4(RAG2):c.126C>T (p.Pro42=)
|
|
|
NM_000536.4(RAG2):c.1274_1280dup (p.Asn428fs)
|
|
|
NM_000536.4(RAG2):c.1275_1278dup (p.Ile427fs)
|
rs1470797202
|
|
NM_000536.4(RAG2):c.1282A>C (p.Asn428His)
|
rs757316422
|
|
NM_000536.4(RAG2):c.1283A>T (p.Asn428Ile)
|
|
|
NM_000536.4(RAG2):c.1284C>T (p.Asn428=)
|
rs2133311606
|
|
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu)
|
rs753677011
|
|
NM_000536.4(RAG2):c.129T>C (p.Thr43=)
|
|
|
NM_000536.4(RAG2):c.1308T>C (p.Thr436=)
|
|
|
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter)
|
rs1440633758
|
|
NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn)
|
rs754413772
|
|
NM_000536.4(RAG2):c.1326C>T (p.Ala442=)
|
rs1323571407
|
|
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr)
|
rs1406618487
|
|
NM_000536.4(RAG2):c.1329G>C (p.Met443Ile)
|
|
|
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile)
|
rs773710101
|
|
NM_000536.4(RAG2):c.1332C>A (p.Ile444=)
|
|
|
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)
|
rs1564995662
|
|
NM_000536.4(RAG2):c.1334dup (p.Tyr445Ter)
|
|
|
NM_000536.4(RAG2):c.1336T>A (p.Cys446Ser)
|
rs1851050839
|
|
NM_000536.4(RAG2):c.1338C>T (p.Cys446=)
|
rs1564995660
|
|
NM_000536.4(RAG2):c.133_146del (p.Val45fs)
|
|
|
NM_000536.4(RAG2):c.1344T>C (p.His448=)
|
rs2133311351
|
|
NM_000536.4(RAG2):c.1346G>C (p.Gly449Ala)
|
|
|
NM_000536.4(RAG2):c.1347G>A (p.Gly449=)
|
|
|
NM_000536.4(RAG2):c.1348del (p.Asp450fs)
|
|
|
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)
|
rs1564995627
|
|
NM_000536.4(RAG2):c.1362C>T (p.Val454=)
|
rs2133311306
|
|
NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr)
|
rs1564995611
|
|
NM_000536.4(RAG2):c.1368T>G (p.Ala456=)
|
|
|
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu)
|
rs1204766339
|
|
NM_000536.4(RAG2):c.1375A>G (p.Met459Val)
|
|
|
NM_000536.4(RAG2):c.1381C>T (p.Leu461=)
|
rs1342591484
|
|
NM_000536.4(RAG2):c.1384G>A (p.Ala462Thr)
|
|
|
NM_000536.4(RAG2):c.1389A>G (p.Glu463=)
|
rs2133311205
|
|
NM_000536.4(RAG2):c.138C>T (p.Phe46=)
|
|
|
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)
|
rs147748696
|
|
NM_000536.4(RAG2):c.1391G>C (p.Arg464Pro)
|
|
|
NM_000536.4(RAG2):c.1392C>T (p.Arg464=)
|
|
|
NM_000536.4(RAG2):c.1395A>C (p.Thr465=)
|
rs2133311165
|
|
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)
|
rs1590713653
|
|
NM_000536.4(RAG2):c.13A>T (p.Met5Leu)
|
rs1851109238
|
|
NM_000536.4(RAG2):c.1403A>G (p.His468Arg)
|
rs751064709
|
|
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.1405C>T (p.Leu469=)
|
|
|
NM_000536.4(RAG2):c.140_141delinsTG (p.His47Leu)
|
|
|
NM_000536.4(RAG2):c.1413A>C (p.Ala471=)
|
|
|
NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg)
|
rs1413100202
|
|
NM_000536.4(RAG2):c.1441C>G (p.His481Asp)
|
|
|
NM_000536.4(RAG2):c.1442A>G (p.His481Arg)
|
|
|
NM_000536.4(RAG2):c.1444G>A (p.Val482Met)
|
|
|
NM_000536.4(RAG2):c.1447G>A (p.Glu483Lys)
|
rs1204454135
|
|
NM_000536.4(RAG2):c.1449G>A (p.Glu483=)
|
|
|
NM_000536.4(RAG2):c.1461T>G (p.Ala487=)
|
|
|
NM_000536.4(RAG2):c.1467C>G (p.His489Gln)
|
|
|
NM_000536.4(RAG2):c.1470T>G (p.Thr490=)
|
rs2133310961
|
|
NM_000536.4(RAG2):c.1473C>G (p.Pro491=)
|
|
|
NM_000536.4(RAG2):c.1473C>T (p.Pro491=)
|
rs1234811101
|
|
NM_000536.4(RAG2):c.1475A>G (p.Gln492Arg)
|
|
|
NM_000536.4(RAG2):c.1478G>T (p.Arg493Ile)
|
rs2037101
|
|
NM_000536.4(RAG2):c.1486C>T (p.Pro496Ser)
|
rs2133310879
|
|
NM_000536.4(RAG2):c.1488C>T (p.Pro496=)
|
rs2133310869
|
|
NM_000536.4(RAG2):c.1491A>G (p.Leu497=)
|
rs2133310853
|
|
NM_000536.4(RAG2):c.1491_1506A[6]GCCTCCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCCAATG[1] (p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_000536.4(RAG2):c.1497G>A (p.Lys499=)
|
rs2133310820
|
|
NM_000536.4(RAG2):c.1501C>G (p.Pro501Ala)
|
rs781104028
|
|
NM_000536.4(RAG2):c.1515C>A (p.Leu505=)
|
rs577434324
|
|
NM_000536.4(RAG2):c.1515C>T (p.Leu505=)
|
|
|
NM_000536.4(RAG2):c.1518T>C (p.Arg506=)
|
rs2133310732
|
|
NM_000536.4(RAG2):c.1527T>G (p.Gly509=)
|
rs2133310703
|
|
NM_000536.4(RAG2):c.1531G>T (p.Gly511Ter)
|
rs757841294
|
|
NM_000536.4(RAG2):c.1532del (p.Gly511fs)
|
rs2133310689
|
|
NM_000536.4(RAG2):c.1533A>G (p.Gly511=)
|
rs2133310675
|
|
NM_000536.4(RAG2):c.153G>A (p.Lys51=)
|
|
|
NM_000536.4(RAG2):c.1545T>G (p.Thr515=)
|
|
|
NM_000536.4(RAG2):c.1546C>T (p.Pro516Ser)
|
|
|
NM_000536.4(RAG2):c.1560C>T (p.Ser520=)
|
rs1310165990
|
|
NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe)
|
rs1169944983
|
|
NM_000536.4(RAG2):c.1565T>C (p.Leu522Pro)
|
rs764457023
|
|
NM_000536.4(RAG2):c.1566T>G (p.Leu522=)
|
rs2133310595
|
|
NM_000536.4(RAG2):c.156T>A (p.His52Gln)
|
|
|
NM_000536.4(RAG2):c.1573T>C (p.Leu525=)
|
rs1851039823
|
|
NM_000536.4(RAG2):c.1575G>A (p.Leu525=)
|
|
|
NM_000536.4(RAG2):c.1581T>G (p.Asp527Glu)
|
rs1851039632
|
|
NM_000536.4(RAG2):c.161A>G (p.His54Arg)
|
|
|
NM_000536.4(RAG2):c.162T>C (p.His54=)
|
rs2133316015
|
|
NM_000536.4(RAG2):c.165C>T (p.Val55=)
|
rs777813230
|
|
NM_000536.4(RAG2):c.16G>A (p.Val6Ile)
|
|
|
NM_000536.4(RAG2):c.171del (p.Lys58fs)
|
|
|
NM_000536.4(RAG2):c.180A>C (p.Thr60=)
|
|
|
NM_000536.4(RAG2):c.180A>G (p.Thr60=)
|
rs1345213365
|
|
NM_000536.4(RAG2):c.186C>A (p.Phe62Leu)
|
rs1564997563
|
|
NM_000536.4(RAG2):c.186C>G (p.Phe62Leu)
|
|
|
NM_000536.4(RAG2):c.189dup (p.Lys64Ter)
|
|
|
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)
|
rs909264507
|
|
NM_000536.4(RAG2):c.195T>C (p.Asp65=)
|
rs2133315880
|
|
NM_000536.4(RAG2):c.19A>G (p.Thr7Ala)
|
rs1851108814
|
|
NM_000536.4(RAG2):c.1A>G (p.Met1Val)
|
rs1564997814
|
|
NM_000536.4(RAG2):c.207C>G (p.Leu69=)
|
rs2133315845
|
|
NM_000536.4(RAG2):c.207C>T (p.Leu69=)
|
|
|
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly)
|
|
|
NM_000536.4(RAG2):c.21A>G (p.Thr7=)
|
|
|
NM_000536.4(RAG2):c.228C>T (p.Ala76=)
|
|
|
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)
|
rs121918574
|
|
NM_000536.4(RAG2):c.231T>C (p.Thr77=)
|
rs2133315742
|
|
NM_000536.4(RAG2):c.237A>C (p.Thr79=)
|
|
|
NM_000536.4(RAG2):c.238T>A (p.Phe80Ile)
|
rs762369105
|
|
NM_000536.4(RAG2):c.243A>G (p.Lys81=)
|
|
|
NM_000536.4(RAG2):c.243del (p.Gly82fs)
|
rs1851098227
|
|
NM_000536.4(RAG2):c.24C>G (p.Val8=)
|
|
|
NM_000536.4(RAG2):c.24C>T (p.Val8=)
|
rs2133316604
|
|
NM_000536.4(RAG2):c.253G>C (p.Glu85Gln)
|
|
|
NM_000536.4(RAG2):c.258T>C (p.Ser86=)
|
rs2133315667
|
|
NM_000536.4(RAG2):c.264G>A (p.Lys88=)
|
|
|
NM_000536.4(RAG2):c.265C>T (p.His89Tyr)
|
rs918106600
|
|
NM_000536.4(RAG2):c.270A>G (p.Gln90=)
|
|
|
NM_000536.4(RAG2):c.272_278del (p.Tyr91fs)
|
|
|
NM_000536.4(RAG2):c.273C>T (p.Tyr91=)
|
|
|
NM_000536.4(RAG2):c.276C>A (p.Ile92=)
|
rs2133315563
|
|
NM_000536.4(RAG2):c.283G>C (p.Gly95Arg)
|
rs36001797
|
|
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu)
|
|
|
NM_000536.4(RAG2):c.286G>A (p.Gly96Arg)
|
|
|
NM_000536.4(RAG2):c.292A>G (p.Thr98Ala)
|
|
|
NM_000536.4(RAG2):c.293del (p.Thr98fs)
|
rs1851096223
|
|
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
|
|
|
NM_000536.4(RAG2):c.302del (p.Asn101fs)
|
rs2133315462
|
|
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys)
|
|
|
NM_000536.4(RAG2):c.306G>A (p.Glu102=)
|
|
|
NM_000536.4(RAG2):c.312A>C (p.Ser104=)
|
rs2133315415
|
|
NM_000536.4(RAG2):c.321T>A (p.Ile107=)
|
|
|
NM_000536.4(RAG2):c.321T>C (p.Ile107=)
|
|
|
NM_000536.4(RAG2):c.327C>T (p.Val109=)
|
|
|
NM_000536.4(RAG2):c.328A>G (p.Met110Val)
|
rs193922575
|
|
NM_000536.4(RAG2):c.335T>C (p.Ile112Thr)
|
rs1851094752
|
|
NM_000536.4(RAG2):c.336T>C (p.Ile112=)
|
rs2133315304
|
|
NM_000536.4(RAG2):c.356A>T (p.Lys119Met)
|
|
|
NM_000536.4(RAG2):c.356del (p.Lys119fs)
|
|
|
NM_000536.4(RAG2):c.358del (p.Val120fs)
|
rs1342428152
|
|
NM_000536.4(RAG2):c.361_364del (p.Thr121fs)
|
|
|
NM_000536.4(RAG2):c.362C>T (p.Thr121Ile)
|
rs764684990
|
|
NM_000536.4(RAG2):c.376G>C (p.Glu126Gln)
|
|
|
NM_000536.4(RAG2):c.385_389del (p.Leu129fs)
|
rs1164927451
|
|
NM_000536.4(RAG2):c.395A>G (p.Asp132Gly)
|
rs375033313
|
|
NM_000536.4(RAG2):c.396T>C (p.Asp132=)
|
rs2133315007
|
|
NM_000536.4(RAG2):c.39C>T (p.Ala13=)
|
rs753764938
|
|
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
|
|
|
NM_000536.4(RAG2):c.407C>T (p.Ala136Val)
|
rs1851091277
|
|
NM_000536.4(RAG2):c.409A>C (p.Arg137=)
|
|
|
NM_000536.4(RAG2):c.410G>A (p.Arg137Lys)
|
|
|
NM_000536.4(RAG2):c.419A>G (p.His140Arg)
|
rs1335036396
|
|
NM_000536.4(RAG2):c.429T>C (p.Asn143=)
|
rs2133314898
|
|
NM_000536.4(RAG2):c.434T>C (p.Val145Ala)
|
rs1851090191
|
|
NM_000536.4(RAG2):c.435G>A (p.Val145=)
|
rs1851090044
|
|
NM_000536.4(RAG2):c.438C>T (p.Tyr146=)
|
|
|
NM_000536.4(RAG2):c.442C>A (p.Arg148=)
|
|
|
NM_000536.4(RAG2):c.446G>A (p.Gly149Glu)
|
rs1487032318
|
|
NM_000536.4(RAG2):c.447G>A (p.Gly149=)
|
rs2133314798
|
|
NM_000536.4(RAG2):c.456G>A (p.Met152Ile)
|
rs2133314764
|
|
NM_000536.4(RAG2):c.459T>A (p.Gly153=)
|
rs1406563782
|
|
NM_000536.4(RAG2):c.459T>C (p.Gly153=)
|
rs1406563782
|
|
NM_000536.4(RAG2):c.461T>C (p.Val154Ala)
|
|
|
NM_000536.4(RAG2):c.464T>A (p.Leu155His)
|
rs1064793250
|
|
NM_000536.4(RAG2):c.469G>A (p.Gly157Arg)
|
rs756676209
|
|
NM_000536.4(RAG2):c.470G>C (p.Gly157Ala)
|
rs1564997121
|
|
NM_000536.4(RAG2):c.470G>T (p.Gly157Val)
|
rs1564997121
|
|
NM_000536.4(RAG2):c.473G>T (p.Gly158Val)
|
|
|
NM_000536.4(RAG2):c.476G>A (p.Arg159His)
|
rs2133314621
|
|
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
|
|
|
NM_000536.4(RAG2):c.47_57del (p.Gln16fs)
|
rs2133316487
|
|
NM_000536.4(RAG2):c.480A>G (p.Ser160=)
|
rs1405801746
|
|
NM_000536.4(RAG2):c.483C>T (p.Tyr161=)
|
rs2133314575
|
|
NM_000536.4(RAG2):c.486G>A (p.Met162Ile)
|
|
|
NM_000536.4(RAG2):c.489T>G (p.Pro163=)
|
rs2133314533
|
|
NM_000536.4(RAG2):c.497A>G (p.His166Arg)
|
rs1851085524
|
|
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)
|
rs1159686210
|
|
NM_000536.4(RAG2):c.507A>T (p.Thr169=)
|
rs2133314493
|
|
NM_000536.4(RAG2):c.510A>G (p.Glu170=)
|
|
|
NM_000536.4(RAG2):c.513A>G (p.Lys171=)
|
|
|
NM_000536.4(RAG2):c.516G>C (p.Trp172Cys)
|
|
|
NM_000536.4(RAG2):c.519T>C (p.Asn173=)
|
|
|
NM_000536.4(RAG2):c.51A>G (p.Pro17=)
|
rs569058130
|
|
NM_000536.4(RAG2):c.525A>C (p.Val175=)
|
|
|
NM_000536.4(RAG2):c.532T>C (p.Cys178Arg)
|
|
|
NM_000536.4(RAG2):c.535del (p.Leu179fs)
|
rs2133314424
|
|
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg)
|
rs1564996998
|
|
NM_000536.4(RAG2):c.543T>C (p.Cys181=)
|
rs1851083875
|
|
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
|
|
|
NM_000536.4(RAG2):c.558T>C (p.Asp186=)
|
rs2133314307
|
|
NM_000536.4(RAG2):c.562G>C (p.Glu188Gln)
|
rs1554947160
|
|
NM_000536.4(RAG2):c.564A>G (p.Glu188=)
|
rs1171394750
|
|
NM_000536.4(RAG2):c.576T>C (p.Ala192=)
|
|
|
NM_000536.4(RAG2):c.579A>G (p.Thr193=)
|
rs2133314241
|
|
NM_000536.4(RAG2):c.585C>T (p.Tyr195=)
|
rs1851082204
|
|
NM_000536.4(RAG2):c.598C>A (p.Leu200Ile)
|
rs2133314147
|
|
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu)
|
rs1851081720
|
|
NM_000536.4(RAG2):c.60A>G (p.Ser20=)
|
|
|
NM_000536.4(RAG2):c.624C>T (p.Val208=)
|
|
|
NM_000536.4(RAG2):c.638dup (p.Asn213fs)
|
rs1851080959
|
|
NM_000536.4(RAG2):c.642C>T (p.Asp214=)
|
|
|
NM_000536.4(RAG2):c.644C>A (p.Thr215Asn)
|
rs35691292
|
|
NM_000536.4(RAG2):c.647T>A (p.Ile216Asn)
|
rs2133314014
|
|
NM_000536.4(RAG2):c.648C>A (p.Ile216=)
|
rs1851080584
|
|
NM_000536.4(RAG2):c.651T>C (p.Tyr217=)
|
rs887816498
|
|
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn)
|
|
|
NM_000536.4(RAG2):c.65T>C (p.Met22Thr)
|
|
|
NM_000536.4(RAG2):c.666T>C (p.His222=)
|
|
|
NM_000536.4(RAG2):c.671T>G (p.Leu224Arg)
|
|
|
NM_000536.4(RAG2):c.672T>C (p.Leu224=)
|
|
|
NM_000536.4(RAG2):c.675C>G (p.Ala225=)
|
rs368808756
|
|
NM_000536.4(RAG2):c.681T>C (p.Asn227=)
|
rs1590715665
|
|
NM_000536.4(RAG2):c.682A>T (p.Ile228Phe)
|
rs763291155
|
|
NM_000536.4(RAG2):c.684C>T (p.Ile228=)
|
rs145031483
|
|
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.686G>T (p.Arg229Leu)
|
rs121917894
|
|
NM_000536.4(RAG2):c.696C>T (p.Asn232=)
|
rs2133313876
|
|
NM_000536.4(RAG2):c.714T>C (p.Val238=)
|
|
|
NM_000536.4(RAG2):c.718C>G (p.Leu240Val)
|
|
|
NM_000536.4(RAG2):c.719T>C (p.Leu240Pro)
|
rs1851078112
|
|
NM_000536.4(RAG2):c.722C>T (p.Pro241Leu)
|
|
|
NM_000536.4(RAG2):c.723C>A (p.Pro241=)
|
rs1436212234
|
|
NM_000536.4(RAG2):c.723C>G (p.Pro241=)
|
rs1436212234
|
|
NM_000536.4(RAG2):c.724C>T (p.Leu242=)
|
rs1326387652
|
|
NM_000536.4(RAG2):c.724del (p.Leu242fs)
|
rs2133313784
|
|
NM_000536.4(RAG2):c.724dup (p.Leu242fs)
|
rs2133313784
|
|
NM_000536.4(RAG2):c.726G>A (p.Leu242=)
|
|
|
NM_000536.4(RAG2):c.72T>C (p.Phe24=)
|
|
|
NM_000536.4(RAG2):c.740T>A (p.Val247Glu)
|
rs2133313736
|
|
NM_000536.4(RAG2):c.743del (p.Asn248fs)
|
rs2133313716
|
|
NM_000536.4(RAG2):c.744T>A (p.Asn248Lys)
|
|
|
NM_000536.4(RAG2):c.747C>T (p.Cys249=)
|
|
|
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)
|
rs1851105950
|
|
NM_000536.4(RAG2):c.753C>T (p.Val251=)
|
|
|
NM_000536.4(RAG2):c.758C>G (p.Pro253Arg)
|
rs1564996700
|
|
NM_000536.4(RAG2):c.759A>G (p.Pro253=)
|
|
|
NM_000536.4(RAG2):c.75T>C (p.Asp25=)
|
rs2133316403
|
|
NM_000536.4(RAG2):c.764G>T (p.Gly255Val)
|
rs780531526
|
|
NM_000536.4(RAG2):c.766A>C (p.Ile256Leu)
|
|
|
NM_000536.4(RAG2):c.770_771del (p.Ser257fs)
|
rs2133313582
|
|
NM_000536.4(RAG2):c.771T>C (p.Ser257=)
|
|
|
NM_000536.4(RAG2):c.772G>A (p.Val258Ile)
|
|
|
NM_000536.4(RAG2):c.77G>C (p.Gly26Ala)
|
rs1851105838
|
|
NM_000536.4(RAG2):c.780T>C (p.Ser260=)
|
rs750603413
|
|
NM_000536.4(RAG2):c.786C>A (p.Ile262=)
|
|
|
NM_000536.4(RAG2):c.786C>T (p.Ile262=)
|
rs2133313518
|
|
NM_000536.4(RAG2):c.787C>T (p.Leu263=)
|
rs2133313501
|
|
NM_000536.4(RAG2):c.789G>A (p.Leu263=)
|
rs1213333392
|
|
NM_000536.4(RAG2):c.802A>C (p.Asn268His)
|
rs1851075681
|
|
NM_000536.4(RAG2):c.80A>G (p.Gln27Arg)
|
rs1851105662
|
|
NM_000536.4(RAG2):c.814G>A (p.Val272Ile)
|
rs117899975
|
|
NM_000536.4(RAG2):c.817_819del (p.Ile273del)
|
rs2133313409
|
|
NM_000536.4(RAG2):c.822T>C (p.Val274=)
|
|
|
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser)
|
rs1851074701
|
|
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)
|
rs1851074524
|
|
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys)
|
rs772880437
|
|
NM_000536.4(RAG2):c.836T>C (p.Leu279Pro)
|
rs1851074227
|
|
NM_000536.4(RAG2):c.843T>A (p.Asn281Lys)
|
|
|
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys)
|
rs1851073997
|
|
NM_000536.4(RAG2):c.84T>A (p.Val28=)
|
|
|
NM_000536.4(RAG2):c.84T>C (p.Val28=)
|
|
|
NM_000536.4(RAG2):c.852A>G (p.Arg284=)
|
|
|
NM_000536.4(RAG2):c.854T>G (p.Met285Arg)
|
rs121917896
|
|
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp)
|
rs886048271
|
|
NM_000536.4(RAG2):c.863del (p.Asn288fs)
|
rs755941834
|
|
NM_000536.4(RAG2):c.864C>T (p.Asn288=)
|
|
|
NM_000536.4(RAG2):c.870C>T (p.Ile290=)
|
|
|
NM_000536.4(RAG2):c.873T>C (p.Ser291=)
|
rs2133313201
|
|
NM_000536.4(RAG2):c.882C>T (p.Asp294=)
|
rs1320386370
|
|
NM_000536.4(RAG2):c.884A>G (p.Asn295Ser)
|
rs770231022
|
|
NM_000536.4(RAG2):c.895del (p.Ile299fs)
|
rs2133313100
|
|
NM_000536.4(RAG2):c.904A>T (p.Met302Leu)
|
rs1851071285
|
|
NM_000536.4(RAG2):c.907G>A (p.Glu303Lys)
|
rs2133313060
|
|
NM_000536.4(RAG2):c.909G>A (p.Glu303=)
|
rs141025671
|
|
NM_000536.4(RAG2):c.911C>T (p.Thr304Ile)
|
rs1851070974
|
|
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala)
|
rs370666759
|
|
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu)
|
|
|
NM_000536.4(RAG2):c.915A>G (p.Pro305=)
|
rs751463938
|
|
NM_000536.4(RAG2):c.916G>T (p.Asp306Tyr)
|
|
|
NM_000536.4(RAG2):c.917A>G (p.Asp306Gly)
|
rs1851070511
|
|
NM_000536.4(RAG2):c.924C>G (p.Thr308=)
|
|
|
NM_000536.4(RAG2):c.930C>T (p.Asp310=)
|
rs2133312954
|
|
NM_000536.4(RAG2):c.931A>G (p.Ile311Val)
|
|
|
NM_000536.4(RAG2):c.932T>C (p.Ile311Thr)
|
rs1851070055
|
|
NM_000536.4(RAG2):c.936G>A (p.Lys312=)
|
|
|
NM_000536.4(RAG2):c.948A>C (p.Ile316=)
|
|
|
NM_000536.4(RAG2):c.948A>G (p.Ile316Met)
|
rs545910812
|
|
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
|
|
|
NM_000536.4(RAG2):c.951G>T (p.Trp317Cys)
|
|
|
NM_000536.4(RAG2):c.954del (p.Phe318fs)
|
rs2133312873
|
|
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter)
|
rs879541124
|
|
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
|
|
|
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)
|
|
|
NM_000536.4(RAG2):c.971A>G (p.Asn324Ser)
|
|
|
NM_000536.4(RAG2):c.977C>T (p.Thr326Ile)
|
rs781129987
|
|
NM_000536.4(RAG2):c.983T>C (p.Phe328Ser)
|
rs1851066103
|
|
NM_000536.4(RAG2):c.984del (p.Gly330fs)
|
|
|
NM_000536.4(RAG2):c.986T>G (p.Leu329Arg)
|
rs1851065829
|
|
NM_000536.4(RAG2):c.987T>A (p.Leu329=)
|
|
|
NM_000536.4(RAG2):c.995C>G (p.Pro332Arg)
|
|
|
NM_000536.4(RAG2):c.998G>A (p.Gly333Glu)
|
|
|
NM_000536.4(RAG2):c.9G>C (p.Leu3=)
|
|
|
NM_001033855.3(DCLRE1C):c.*1044A>G
|
rs1834496493
|
|
NM_001033855.3(DCLRE1C):c.*1060G>A
|
rs886046835
|
|
NM_001033855.3(DCLRE1C):c.*1064A>G
|
rs41300688
|
|
NM_001033855.3(DCLRE1C):c.*1108G>C
|
rs1305891604
|
|
NM_001033855.3(DCLRE1C):c.*1174G>A
|
rs41300694
|
|
NM_001033855.3(DCLRE1C):c.*1216G>A
|
rs41300696
|
|
NM_001033855.3(DCLRE1C):c.*1390T>C
|
rs12245956
|
|
NM_001033855.3(DCLRE1C):c.*1390T>G
|
rs12245956
|
|
NM_001033855.3(DCLRE1C):c.*1408G>A
|
rs886046833
|
|
NM_001033855.3(DCLRE1C):c.*1487G>C
|
rs528458946
|
|
NM_001033855.3(DCLRE1C):c.*154G>T
|
rs886046849
|
|
NM_001033855.3(DCLRE1C):c.*241_*242del
|
rs750020058
|
|
NM_001033855.3(DCLRE1C):c.*306G>A
|
rs886046846
|
|
NM_001033855.3(DCLRE1C):c.*529del
|
rs886046843
|
|
NM_001033855.3(DCLRE1C):c.*530A>C
|
rs886046842
|
|
NM_001033855.3(DCLRE1C):c.*550A>G
|
rs36017616
|
|
NM_001033855.3(DCLRE1C):c.*550del
|
rs60410513
|
|
NM_001033855.3(DCLRE1C):c.*550dup
|
rs60410513
|
|
NM_001033855.3(DCLRE1C):c.*560dup
|
rs886046838
|
|
NM_001033855.3(DCLRE1C):c.*719dup
|
rs41300680
|
|
NM_001033855.3(DCLRE1C):c.*770_*773dup
|
rs770468446
|
|
NM_001033855.3(DCLRE1C):c.*878C>G
|
rs575242970
|
|
NM_001033855.3(DCLRE1C):c.*878C>T
|
rs575242970
|
|
NM_001033855.3(DCLRE1C):c.*916_*921del
|
rs886046836
|
|
NM_001033855.3(DCLRE1C):c.*949G>C
|
rs535208039
|
|
NM_001033855.3(DCLRE1C):c.1011A>G (p.Ala337=)
|
|
|
NM_001033855.3(DCLRE1C):c.1020T>C (p.Asn340=)
|
|
|
NM_001033855.3(DCLRE1C):c.1029A>G (p.Pro343=)
|
rs2130785559
|
|
NM_001033855.3(DCLRE1C):c.1031T>C (p.Val344Ala)
|
rs769742765
|
|
NM_001033855.3(DCLRE1C):c.1035C>T (p.Gly345=)
|
rs2130785485
|
|
NM_001033855.3(DCLRE1C):c.1036A>G (p.Thr346Ala)
|
|
|
NM_001033855.3(DCLRE1C):c.1039A>G (p.Thr347Ala)
|
|
|
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)
|
rs121908159
|
|
NM_001033855.3(DCLRE1C):c.1053T>C (p.Val351=)
|
rs758671214
|
|
NM_001033855.3(DCLRE1C):c.1055T>C (p.Val352Ala)
|
rs752942378
|
|
NM_001033855.3(DCLRE1C):c.1058A>G (p.Glu353Gly)
|
rs1837362613
|
|
NM_001033855.3(DCLRE1C):c.105C>T (p.His35=)
|
|
|
NM_001033855.3(DCLRE1C):c.1061+12C>G
|
rs2130784868
|
|
NM_001033855.3(DCLRE1C):c.1061+15G>T
|
|
|
NM_001033855.3(DCLRE1C):c.1061+16T>C
|
|
|
NM_001033855.3(DCLRE1C):c.1061+17T>C
|
|
|
NM_001033855.3(DCLRE1C):c.1061+20G>C
|
|
|
NM_001033855.3(DCLRE1C):c.1061+9T>A
|
|
|
NM_001033855.3(DCLRE1C):c.1062-12G>A
|
|
|
NM_001033855.3(DCLRE1C):c.1062-18T>A
|
|
|
NM_001033855.3(DCLRE1C):c.1062-8C>A
|
|
|
NM_001033855.3(DCLRE1C):c.1062-9dup
|
|
|
NM_001033855.3(DCLRE1C):c.1067A>C (p.Lys356Thr)
|
rs1836805445
|
|
NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu)
|
|
|
NM_001033855.3(DCLRE1C):c.1073T>C (p.Leu358Ser)
|
rs2130743286
|
|
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)
|
|
|
NM_001033855.3(DCLRE1C):c.1088A>G (p.Gln363Arg)
|
rs1213080376
|
|
NM_001033855.3(DCLRE1C):c.109+10G>A
|
rs2131237889
|
|
NM_001033855.3(DCLRE1C):c.109+12C>T
|
|
|
NM_001033855.3(DCLRE1C):c.109+13T>A
|
|
|
NM_001033855.3(DCLRE1C):c.109+14G>A
|
|
|
NM_001033855.3(DCLRE1C):c.109+17C>A
|
|
|
NM_001033855.3(DCLRE1C):c.109+17C>T
|
|
|
NM_001033855.3(DCLRE1C):c.109+19T>C
|
|
|
NM_001033855.3(DCLRE1C):c.109+20C>T
|
|
|
NM_001033855.3(DCLRE1C):c.109+7G>C
|
rs2131237998
|
|
NM_001033855.3(DCLRE1C):c.109+8A>T
|
rs749519637
|
|
NM_001033855.3(DCLRE1C):c.1094C>T (p.Thr365Met)
|
|
|
NM_001033855.3(DCLRE1C):c.110-12T>C
|
|
|
NM_001033855.3(DCLRE1C):c.110-16G>T
|
|
|
NM_001033855.3(DCLRE1C):c.110-17del
|
|
|
NM_001033855.3(DCLRE1C):c.110-3del
|
rs1310434338
|
|
NM_001033855.3(DCLRE1C):c.110-7T>A
|
|
|
NM_001033855.3(DCLRE1C):c.110-9T>C
|
|
|
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1104G>A (p.Lys368=)
|
|
|
NM_001033855.3(DCLRE1C):c.1106A>G (p.Tyr369Cys)
|
rs1836798077
|
|
NM_001033855.3(DCLRE1C):c.1107T>C (p.Tyr369=)
|
|
|
NM_001033855.3(DCLRE1C):c.1110A>G (p.Lys370=)
|
|
|
NM_001033855.3(DCLRE1C):c.1113A>C (p.Pro371=)
|
rs1412937178
|
|
NM_001033855.3(DCLRE1C):c.1113A>G (p.Pro371=)
|
rs1412937178
|
|
NM_001033855.3(DCLRE1C):c.111T>C (p.Asp37=)
|
|
|
NM_001033855.3(DCLRE1C):c.1132G>T (p.Ala378Ser)
|
|
|
NM_001033855.3(DCLRE1C):c.1134T>C (p.Ala378=)
|
rs2130742136
|
|
NM_001033855.3(DCLRE1C):c.1147C>G (p.Arg383Gly)
|
rs752241422
|
|
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1149A>G (p.Arg383=)
|
|
|
NM_001033855.3(DCLRE1C):c.1156+1G>C
|
|
|
NM_001033855.3(DCLRE1C):c.1156+20G>T
|
|
|
NM_001033855.3(DCLRE1C):c.1156+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.1157-11T>C
|
|
|
NM_001033855.3(DCLRE1C):c.1157-14_1157-10del
|
rs1401796963
|
|
NM_001033855.3(DCLRE1C):c.1157-15TTGT[3]
|
rs1834863237
|
|
NM_001033855.3(DCLRE1C):c.1157-18_1157-16dup
|
|
|
NM_001033855.3(DCLRE1C):c.1157-4A>G
|
|
|
NM_001033855.3(DCLRE1C):c.1161_1163del
|
rs1437681771
|
|
NM_001033855.3(DCLRE1C):c.1165G>T (p.Asp389Tyr)
|
rs1379146832
|
|
NM_001033855.3(DCLRE1C):c.1170C>T (p.Asp390=)
|
|
|
NM_001033855.3(DCLRE1C):c.1174C>G (p.Leu392Val)
|
|
|
NM_001033855.3(DCLRE1C):c.1174C>T (p.Leu392Phe)
|
|
|
NM_001033855.3(DCLRE1C):c.1176C>G (p.Leu392=)
|
rs2131780176
|
|
NM_001033855.3(DCLRE1C):c.1176C>T (p.Leu392=)
|
rs2131780176
|
|
NM_001033855.3(DCLRE1C):c.1179T>C (p.Phe393=)
|
|
|
NM_001033855.3(DCLRE1C):c.1182T>C (p.Asp394=)
|
rs2131780112
|
|
NM_001033855.3(DCLRE1C):c.1185T>A (p.Asp395Glu)
|
|
|
NM_001033855.3(DCLRE1C):c.1192C>T (p.Pro398Ser)
|
|
|
NM_001033855.3(DCLRE1C):c.1193C>T (p.Pro398Leu)
|
rs2131780031
|
|
NM_001033855.3(DCLRE1C):c.1201T>C (p.Leu401=)
|
rs2131779956
|
|
NM_001033855.3(DCLRE1C):c.1203A>G (p.Leu401=)
|
rs765990122
|
|
NM_001033855.3(DCLRE1C):c.1208A>G (p.His403Arg)
|
|
|
NM_001033855.3(DCLRE1C):c.1212A>T (p.Lys404Asn)
|
|
|
NM_001033855.3(DCLRE1C):c.1219T>C (p.Tyr407His)
|
|
|
NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter)
|
rs1296189593
|
|
NM_001033855.3(DCLRE1C):c.1221C>T (p.Tyr407=)
|
rs1296189593
|
|
NM_001033855.3(DCLRE1C):c.1230T>C (p.Thr410=)
|
rs1398018162
|
|
NM_001033855.3(DCLRE1C):c.1233T>G (p.Phe411Leu)
|
|
|
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1241A>G (p.Glu414Gly)
|
rs1834845817
|
|
NM_001033855.3(DCLRE1C):c.1246_1247insCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAG (p.Phe416fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1248T>C (p.Phe416=)
|
|
|
NM_001033855.3(DCLRE1C):c.1248delinsAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAGTA (p.Phe416delinsLeuIleIlePheThrLysCysProSerPheThrTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1249T>G (p.Ser417Ala)
|
rs1013537366
|
|
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.1268A>G (p.Glu423Gly)
|
|
|
NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1285C>T (p.Leu429=)
|
rs752137206
|
|
NM_001033855.3(DCLRE1C):c.1286_1287del (p.Leu429fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1287G>A (p.Leu429=)
|
rs115081573
|
|
NM_001033855.3(DCLRE1C):c.1292A>C (p.Gln431Pro)
|
|
|
NM_001033855.3(DCLRE1C):c.1296C>A (p.Thr432=)
|
rs954715514
|
|
NM_001033855.3(DCLRE1C):c.1299A>C (p.Pro433=)
|
rs2131778731
|
|
NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter)
|
rs2131778656
|
|
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg)
|
rs921819288
|
|
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.1319_1320del (p.Cys440fs)
|
|
|
NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp)
|
|
|
NM_001033855.3(DCLRE1C):c.1323G>A (p.Met441Ile)
|
|
|
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1326G>A (p.Gln442=)
|
rs1169255098
|
|
NM_001033855.3(DCLRE1C):c.132C>A (p.Ala44=)
|
rs919231089
|
|
NM_001033855.3(DCLRE1C):c.1335T>C (p.Arg445=)
|
|
|
NM_001033855.3(DCLRE1C):c.1340C>A (p.Thr447Lys)
|
|
|
NM_001033855.3(DCLRE1C):c.1340C>T (p.Thr447Ile)
|
rs80148779
|
|
NM_001033855.3(DCLRE1C):c.1341A>C (p.Thr447=)
|
rs775633789
|
|
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.1362A>G (p.Glu454=)
|
|
|
NM_001033855.3(DCLRE1C):c.1363_1383del (p.Ser455_Glu461del)
|
|
|
NM_001033855.3(DCLRE1C):c.1364C>T (p.Ser455Phe)
|
rs1358066992
|
|
NM_001033855.3(DCLRE1C):c.1376G>T (p.Ser459Ile)
|
rs747311091
|
|
NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del)
|
rs373709012
|
|
NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile)
|
|
|
NM_001033855.3(DCLRE1C):c.1395C>G (p.Ile465Met)
|
rs2131777299
|
|
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln)
|
rs749686038
|
|
NM_001033855.3(DCLRE1C):c.1404A>G (p.Ser468=)
|
|
|
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1419G>A (p.Leu473=)
|
|
|
NM_001033855.3(DCLRE1C):c.141G>A (p.Leu47=)
|
rs2131169251
|
|
NM_001033855.3(DCLRE1C):c.1422C>A (p.Gly474=)
|
rs2131777003
|
|
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala)
|
rs1588894157
|
|
NM_001033855.3(DCLRE1C):c.1434C>T (p.His478=)
|
rs2131776891
|
|
NM_001033855.3(DCLRE1C):c.1437G>C (p.Leu479=)
|
rs762916677
|
|
NM_001033855.3(DCLRE1C):c.1437G>T (p.Leu479=)
|
rs762916677
|
|
NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1439A>T (p.Gln480Leu)
|
|
|
NM_001033855.3(DCLRE1C):c.1440A>G (p.Gln480=)
|
|
|
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs)
|
rs2131776743
|
|
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1444G>T (p.Ala482Ser)
|
|
|
NM_001033855.3(DCLRE1C):c.1449T>C (p.Asp483=)
|
rs2131776650
|
|
NM_001033855.3(DCLRE1C):c.1452G>A (p.Gly484=)
|
|
|
NM_001033855.3(DCLRE1C):c.1452G>C (p.Gly484=)
|
|
|
NM_001033855.3(DCLRE1C):c.1455T>C (p.Asp485=)
|
rs747435874
|
|
NM_001033855.3(DCLRE1C):c.1464G>A (p.Gln488=)
|
rs772499261
|
|
NM_001033855.3(DCLRE1C):c.1465T>C (p.Trp489Arg)
|
rs904814123
|
|
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.1473A>G (p.Val491=)
|
|
|
NM_001033855.3(DCLRE1C):c.1476_1478del (p.Phe493del)
|
|
|
NM_001033855.3(DCLRE1C):c.1489_1490insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAATG (p.Asp497delinsAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrThrValLysProArgLeuTyrTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys)
|
rs372597855
|
|
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)
|
rs372597855
|
|
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs)
|
rs1588893751
|
|
NM_001033855.3(DCLRE1C):c.1494A>C (p.Glu498Asp)
|
|
|
NM_001033855.3(DCLRE1C):c.1500A>C (p.Thr500=)
|
rs2131776179
|
|
NM_001033855.3(DCLRE1C):c.1502_1503dup (p.Glu502fs)
|
rs2131776130
|
|
NM_001033855.3(DCLRE1C):c.1502_1508del (p.Asp501fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1504G>A (p.Glu502Lys)
|
rs780875686
|
|
NM_001033855.3(DCLRE1C):c.1507_1508del (p.Ser503fs)
|
rs2131775994
|
|
NM_001033855.3(DCLRE1C):c.151T>C (p.Leu51=)
|
rs781559298
|
|
NM_001033855.3(DCLRE1C):c.1524T>C (p.Pro508=)
|
rs751349938
|
|
NM_001033855.3(DCLRE1C):c.1527C>A (p.Ser509=)
|
|
|
NM_001033855.3(DCLRE1C):c.1530C>T (p.Ser510=)
|
|
|
NM_001033855.3(DCLRE1C):c.1532C>A (p.Thr511Lys)
|
rs1834786005
|
|
NM_001033855.3(DCLRE1C):c.1536G>A (p.Val512=)
|
|
|
NM_001033855.3(DCLRE1C):c.1536G>T (p.Val512=)
|
rs2131775740
|
|
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1543G>A (p.Gly515Arg)
|
|
|
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.1552T>A (p.Ser518Thr)
|
|
|
NM_001033855.3(DCLRE1C):c.1554A>G (p.Ser518=)
|
rs2131775529
|
|
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu)
|
rs542791233
|
|
NM_001033855.3(DCLRE1C):c.1557A>G (p.Pro519=)
|
rs2131775488
|
|
NM_001033855.3(DCLRE1C):c.1558_1559del (p.Lys520fs)
|
rs2131775466
|
|
NM_001033855.3(DCLRE1C):c.1560G>C (p.Lys520Asn)
|
|
|
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
|
|
|
NM_001033855.3(DCLRE1C):c.1575T>C (p.Ser525=)
|
|
|
NM_001033855.3(DCLRE1C):c.1583A>G (p.Glu528Gly)
|
|
|
NM_001033855.3(DCLRE1C):c.1584A>G (p.Glu528=)
|
rs2131775195
|
|
NM_001033855.3(DCLRE1C):c.1585_1588dup (p.Thr530fs)
|
rs1834776385
|
|
NM_001033855.3(DCLRE1C):c.1588A>G (p.Thr530Ala)
|
rs921962593
|
|
NM_001033855.3(DCLRE1C):c.1590T>C (p.Thr530=)
|
|
|
NM_001033855.3(DCLRE1C):c.1591C>A (p.His531Asn)
|
|
|
NM_001033855.3(DCLRE1C):c.1596C>A (p.Ile532=)
|
|
|
NM_001033855.3(DCLRE1C):c.1599C>T (p.Ser533=)
|
rs2131775018
|
|
NM_001033855.3(DCLRE1C):c.1604A>G (p.Gln535Arg)
|
rs887381468
|
|
NM_001033855.3(DCLRE1C):c.1605G>A (p.Gln535=)
|
rs1029319156
|
|
NM_001033855.3(DCLRE1C):c.161+13G>T
|
|
|
NM_001033855.3(DCLRE1C):c.161+16A>C
|
rs2131168836
|
|
NM_001033855.3(DCLRE1C):c.161+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.161+7T>C
|
|
|
NM_001033855.3(DCLRE1C):c.1614C>T (p.Ser538=)
|
rs1398543236
|
|
NM_001033855.3(DCLRE1C):c.162-14T>A
|
|
|
NM_001033855.3(DCLRE1C):c.162-16dup
|
|
|
NM_001033855.3(DCLRE1C):c.162-2A>C
|
|
|
NM_001033855.3(DCLRE1C):c.162-7C>T
|
rs1288736896
|
|
NM_001033855.3(DCLRE1C):c.1620A>C (p.Ser540=)
|
rs2131774816
|
|
NM_001033855.3(DCLRE1C):c.1623A>G (p.Thr541=)
|
rs41300674
|
|
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs)
|
rs767758218
|
|
NM_001033855.3(DCLRE1C):c.1629A>C (p.Ile543=)
|
rs1282092460
|
|
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln)
|
rs1588892650
|
|
NM_001033855.3(DCLRE1C):c.1636C>G (p.Gln546Glu)
|
|
|
NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1640G>T (p.Gly547Val)
|
|
|
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg)
|
rs1588892551
|
|
NM_001033855.3(DCLRE1C):c.1650C>T (p.Gly550=)
|
|
|
NM_001033855.3(DCLRE1C):c.1651T>C (p.Trp551Arg)
|
rs779050968
|
|
NM_001033855.3(DCLRE1C):c.1662A>G (p.Gln554=)
|
rs886043100
|
|
NM_001033855.3(DCLRE1C):c.1665_1666del (p.Asp556fs)
|
rs2131774270
|
|
NM_001033855.3(DCLRE1C):c.1668T>C (p.Asp556=)
|
|
|
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)
|
rs886037924
|
|
NM_001033855.3(DCLRE1C):c.1670C>A (p.Thr557Asn)
|
rs750692726
|
|
NM_001033855.3(DCLRE1C):c.1674T>C (p.Val558=)
|
|
|
NM_001033855.3(DCLRE1C):c.1677G>A (p.Leu559=)
|
|
|
NM_001033855.3(DCLRE1C):c.1686C>A (p.Ser562=)
|
|
|
NM_001033855.3(DCLRE1C):c.168G>A (p.Lys56=)
|
|
|
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly)
|
rs1588892169
|
|
NM_001033855.3(DCLRE1C):c.1695A>G (p.Arg565=)
|
rs2131773917
|
|
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1704G>A (p.Gly568=)
|
rs2131773826
|
|
NM_001033855.3(DCLRE1C):c.1704G>C (p.Gly568=)
|
|
|
NM_001033855.3(DCLRE1C):c.1711A>G (p.Thr571Ala)
|
rs775927361
|
|
NM_001033855.3(DCLRE1C):c.1713T>C (p.Thr571=)
|
rs2131773687
|
|
NM_001033855.3(DCLRE1C):c.1714T>G (p.Ser572Ala)
|
rs770457801
|
|
NM_001033855.3(DCLRE1C):c.1735A>C (p.Arg579=)
|
rs2131773371
|
|
NM_001033855.3(DCLRE1C):c.1737A>G (p.Arg579=)
|
rs749263367
|
|
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=)
|
rs750453725
|
|
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1752G>A (p.Glu584=)
|
|
|
NM_001033855.3(DCLRE1C):c.1756_1757del (p.Ile586fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1761T>C (p.Pro587=)
|
rs2131772890
|
|
NM_001033855.3(DCLRE1C):c.1764C>T (p.Ala588=)
|
rs1588891334
|
|
NM_001033855.3(DCLRE1C):c.1767T>A (p.Ser589=)
|
rs1197140206
|
|
NM_001033855.3(DCLRE1C):c.1769T>C (p.Leu590Pro)
|
rs2131772748
|
|
NM_001033855.3(DCLRE1C):c.1770C>G (p.Leu590=)
|
rs2131772690
|
|
NM_001033855.3(DCLRE1C):c.1773G>A (p.Met591Ile)
|
|
|
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1782T>C (p.Asn594=)
|
rs775980446
|
|
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1788T>C (p.Ile596=)
|
rs2131772475
|
|
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)
|
rs759377639
|
|
NM_001033855.3(DCLRE1C):c.178_179dup (p.Cys61fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)
|
|
|
NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu)
|
rs2131239353
|
|
NM_001033855.3(DCLRE1C):c.1802C>T (p.Thr601Ile)
|
rs1834728922
|
|
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1805A>G (p.Tyr602Cys)
|
rs774102624
|
|
NM_001033855.3(DCLRE1C):c.1806C>T (p.Tyr602=)
|
|
|
NM_001033855.3(DCLRE1C):c.1809T>G (p.Ser603=)
|
rs1834725809
|
|
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)
|
rs2131108640
|
|
NM_001033855.3(DCLRE1C):c.1816A>C (p.Lys606Gln)
|
rs1834723718
|
|
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg)
|
rs1589136760
|
|
NM_001033855.3(DCLRE1C):c.1820_1821delinsAT (p.Ser607Asn)
|
rs2131771850
|
|
NM_001033855.3(DCLRE1C):c.1824A>G (p.Arg608=)
|
|
|
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1833T>C (p.Asp611=)
|
|
|
NM_001033855.3(DCLRE1C):c.1836G>A (p.Val612=)
|
|
|
NM_001033855.3(DCLRE1C):c.1839A>C (p.Thr613=)
|
|
|
NM_001033855.3(DCLRE1C):c.183T>C (p.Cys61=)
|
rs2131108523
|
|
NM_001033855.3(DCLRE1C):c.1846C>T (p.Pro616Ser)
|
|
|
NM_001033855.3(DCLRE1C):c.1848T>C (p.Pro616=)
|
rs1338665936
|
|
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1869T>C (p.Thr623=)
|
|
|
NM_001033855.3(DCLRE1C):c.1878T>C (p.Ser626=)
|
|
|
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys)
|
rs1588890065
|
|
NM_001033855.3(DCLRE1C):c.1888A>G (p.Ile630Val)
|
rs2131770710
|
|
NM_001033855.3(DCLRE1C):c.1890A>G (p.Ile630Met)
|
rs201350418
|
|
NM_001033855.3(DCLRE1C):c.1893C>A (p.Pro631=)
|
rs41300676
|
|
NM_001033855.3(DCLRE1C):c.1897del (p.Glu633fs)
|
rs1834703886
|
|
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly)
|
rs533771936
|
|
NM_001033855.3(DCLRE1C):c.189T>C (p.Pro63=)
|
|
|
NM_001033855.3(DCLRE1C):c.189T>G (p.Pro63=)
|
|
|
NM_001033855.3(DCLRE1C):c.1902A>G (p.Lys634=)
|
rs778029115
|
|
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs)
|
rs760288938
|
|
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)
|
rs760288938
|
|
NM_001033855.3(DCLRE1C):c.1906T>A (p.Leu636Met)
|
|
|
NM_001033855.3(DCLRE1C):c.1906T>C (p.Leu636=)
|
rs933422037
|
|
NM_001033855.3(DCLRE1C):c.1930G>C (p.Asp644His)
|
|
|
NM_001033855.3(DCLRE1C):c.1932T>C (p.Asp644=)
|
rs2131769885
|
|
NM_001033855.3(DCLRE1C):c.1935C>A (p.Ser645=)
|
rs2131769845
|
|
NM_001033855.3(DCLRE1C):c.1935C>G (p.Ser645=)
|
|
|
NM_001033855.3(DCLRE1C):c.1936C>T (p.Gln646Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)
|
rs886037925
|
|
NM_001033855.3(DCLRE1C):c.1954G>A (p.Glu652Lys)
|
|
|
NM_001033855.3(DCLRE1C):c.1955A>G (p.Glu652Gly)
|
|
|
NM_001033855.3(DCLRE1C):c.1957G>T (p.Val653Phe)
|
rs1449940704
|
|
NM_001033855.3(DCLRE1C):c.1959del (p.Ser655fs)
|
rs1834692330
|
|
NM_001033855.3(DCLRE1C):c.1963T>C (p.Ser655Pro)
|
rs762670101
|
|
NM_001033855.3(DCLRE1C):c.1971A>G (p.Pro657=)
|
rs2131769255
|
|
NM_001033855.3(DCLRE1C):c.1972G>A (p.Glu658Lys)
|
|
|
NM_001033855.3(DCLRE1C):c.1977T>A (p.Ala659=)
|
rs2131769178
|
|
NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.1979A>G (p.Glu660Gly)
|
rs2131769121
|
|
NM_001033855.3(DCLRE1C):c.1980G>A (p.Glu660=)
|
rs747160002
|
|
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu)
|
rs1554773491
|
|
NM_001033855.3(DCLRE1C):c.1988A>C (p.Lys663Thr)
|
rs2131768961
|
|
NM_001033855.3(DCLRE1C):c.1992A>G (p.Arg664=)
|
rs1834685227
|
|
NM_001033855.3(DCLRE1C):c.1995G>A (p.Glu665=)
|
|
|
NM_001033855.3(DCLRE1C):c.1996C>G (p.His666Asp)
|
rs1834683814
|
|
NM_001033855.3(DCLRE1C):c.1998T>C (p.His666=)
|
|
|
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter)
|
rs1409082603
|
|
NM_001033855.3(DCLRE1C):c.2007T>C (p.Tyr669=)
|
|
|
NM_001033855.3(DCLRE1C):c.2010A>G (p.Leu670=)
|
|
|
NM_001033855.3(DCLRE1C):c.2012_2013del (p.Leu670_Tyr671insTer)
|
rs1564361862
|
|
NM_001033855.3(DCLRE1C):c.2019G>A (p.Lys673=)
|
|
|
NM_001033855.3(DCLRE1C):c.201GTT[2] (p.Leu70del)
|
rs753202682
|
|
NM_001033855.3(DCLRE1C):c.2022G>A (p.Leu674=)
|
|
|
NM_001033855.3(DCLRE1C):c.2028T>C (p.Thr676=)
|
|
|
NM_001033855.3(DCLRE1C):c.2028T>G (p.Thr676=)
|
rs1186857313
|
|
NM_001033855.3(DCLRE1C):c.2031T>G (p.Gly677=)
|
rs752295185
|
|
NM_001033855.3(DCLRE1C):c.2032G>A (p.Glu678Lys)
|
|
|
NM_001033855.3(DCLRE1C):c.2040A>T (p.Ile680=)
|
rs2131767938
|
|
NM_001033855.3(DCLRE1C):c.2042C>T (p.Ala681Val)
|
rs1834673766
|
|
NM_001033855.3(DCLRE1C):c.2046C>T (p.Val682=)
|
rs1455233498
|
|
NM_001033855.3(DCLRE1C):c.2047A>C (p.Lys683Gln)
|
rs2131767744
|
|
NM_001033855.3(DCLRE1C):c.204G>A (p.Leu68=)
|
|
|
NM_001033855.3(DCLRE1C):c.2050A>T (p.Lys684Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)
|
|
|
NM_001033855.3(DCLRE1C):c.2053del (p.Arg685fs)
|
rs915913541
|
|
NM_001033855.3(DCLRE1C):c.2061C>T (p.Cys687=)
|
|
|
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)
|
rs1589136659
|
|
NM_001033855.3(DCLRE1C):c.207G>A (p.Leu69=)
|
rs2131108120
|
|
NM_001033855.3(DCLRE1C):c.208T>C (p.Leu70=)
|
|
|
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)
|
|
|
NM_001033855.3(DCLRE1C):c.213G>A (p.Thr71=)
|
rs141391272
|
|
NM_001033855.3(DCLRE1C):c.21G>A (p.Gln7=)
|
rs939562272
|
|
NM_001033855.3(DCLRE1C):c.237G>A (p.Lys79=)
|
rs2131107606
|
|
NM_001033855.3(DCLRE1C):c.240A>G (p.Lys80=)
|
|
|
NM_001033855.3(DCLRE1C):c.241C>A (p.Arg81=)
|
rs121908156
|
|
NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln)
|
|
|
NM_001033855.3(DCLRE1C):c.246+15T>G
|
rs781019003
|
|
NM_001033855.3(DCLRE1C):c.246+16T>G
|
|
|
NM_001033855.3(DCLRE1C):c.246+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.246+9T>A
|
rs774905917
|
|
NM_001033855.3(DCLRE1C):c.247-10_247-6del
|
rs1840583230
|
|
NM_001033855.3(DCLRE1C):c.247-12T>A
|
rs2131027889
|
|
NM_001033855.3(DCLRE1C):c.247-16T>C
|
|
|
NM_001033855.3(DCLRE1C):c.247-1G>C
|
rs2131027668
|
|
NM_001033855.3(DCLRE1C):c.247-2A>G
|
rs2131027694
|
|
NM_001033855.3(DCLRE1C):c.247-3T>C
|
|
|
NM_001033855.3(DCLRE1C):c.247-4A>G
|
|
|
NM_001033855.3(DCLRE1C):c.247-5T>C
|
|
|
NM_001033855.3(DCLRE1C):c.247-5T>G
|
|
|
NM_001033855.3(DCLRE1C):c.247-7T>C
|
rs2131027840
|
|
NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val)
|
rs746658739
|
|
NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile)
|
|
|
NM_001033855.3(DCLRE1C):c.252T>C (p.Ser84=)
|
rs2131027424
|
|
NM_001033855.3(DCLRE1C):c.252T>G (p.Ser84=)
|
rs2131027424
|
|
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr)
|
rs1842835241
|
|
NM_001033855.3(DCLRE1C):c.262G>A (p.Glu88Lys)
|
|
|
NM_001033855.3(DCLRE1C):c.267T>C (p.Thr89=)
|
rs375091202
|
|
NM_001033855.3(DCLRE1C):c.273C>A (p.Thr91=)
|
|
|
NM_001033855.3(DCLRE1C):c.273C>G (p.Thr91=)
|
|
|
NM_001033855.3(DCLRE1C):c.273C>T (p.Thr91=)
|
rs1016148948
|
|
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)
|
|
|
NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His)
|
rs1840576379
|
|
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=)
|
rs756715291
|
|
NM_001033855.3(DCLRE1C):c.294A>G (p.Glu98=)
|
|
|
NM_001033855.3(DCLRE1C):c.306+15A>C
|
|
|
NM_001033855.3(DCLRE1C):c.306+18A>G
|
|
|
NM_001033855.3(DCLRE1C):c.306+19T>C
|
|
|
NM_001033855.3(DCLRE1C):c.306+2T>A
|
rs2131026813
|
|
NM_001033855.3(DCLRE1C):c.306+2T>C
|
|
|
NM_001033855.3(DCLRE1C):c.306+5C>T
|
|
|
NM_001033855.3(DCLRE1C):c.306+6_306+7insGATTTAATAATCA
|
rs2131026709
|
|
NM_001033855.3(DCLRE1C):c.306+9A>C
|
|
|
NM_001033855.3(DCLRE1C):c.307-13A>G
|
|
|
NM_001033855.3(DCLRE1C):c.307-13_307-9del
|
rs2130974342
|
|
NM_001033855.3(DCLRE1C):c.307-14T>C
|
|
|
NM_001033855.3(DCLRE1C):c.307-17C>A
|
|
|
NM_001033855.3(DCLRE1C):c.307-17C>G
|
|
|
NM_001033855.3(DCLRE1C):c.307-18T>C
|
|
|
NM_001033855.3(DCLRE1C):c.307-18T>G
|
|
|
NM_001033855.3(DCLRE1C):c.310_313del
|
rs2130974126
|
|
NM_001033855.3(DCLRE1C):c.318dup (p.Val107fs)
|
|
|
NM_001033855.3(DCLRE1C):c.319G>A (p.Val107Ile)
|
rs772530008
|
|
NM_001033855.3(DCLRE1C):c.321T>G (p.Val107=)
|
rs767258233
|
|
NM_001033855.3(DCLRE1C):c.324G>C (p.Val108=)
|
rs1266629487
|
|
NM_001033855.3(DCLRE1C):c.327T>C (p.Thr109=)
|
rs2130973752
|
|
NM_001033855.3(DCLRE1C):c.328del (p.Leu110fs)
|
|
|
NM_001033855.3(DCLRE1C):c.330C>G (p.Leu110=)
|
rs768414966
|
|
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=)
|
rs768414966
|
|
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
|
|
|
NM_001033855.3(DCLRE1C):c.331T>A (p.Leu111Ile)
|
|
|
NM_001033855.3(DCLRE1C):c.331T>C (p.Leu111=)
|
rs377443609
|
|
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)
|
|
|
NM_001033855.3(DCLRE1C):c.345C>T (p.His115=)
|
rs2130973480
|
|
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
|
|
|
NM_001033855.3(DCLRE1C):c.348T>C (p.Cys116=)
|
rs2130973416
|
|
NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)
|
|
|
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
|
rs1839957089
|
|
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.357A>C (p.Ser119=)
|
|
|
NM_001033855.3(DCLRE1C):c.357A>T (p.Ser119=)
|
rs757569484
|
|
NM_001033855.3(DCLRE1C):c.361A>T (p.Met121Leu)
|
rs1839954868
|
|
NM_001033855.3(DCLRE1C):c.362+14T>A
|
|
|
NM_001033855.3(DCLRE1C):c.362+1G>T
|
rs1564446526
|
|
NM_001033855.3(DCLRE1C):c.362+2T>A
|
|
|
NM_001033855.3(DCLRE1C):c.362+6G>C
|
|
|
NM_001033855.3(DCLRE1C):c.362+8G>C
|
rs1564446480
|
|
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr)
|
|
|
NM_001033855.3(DCLRE1C):c.363-15A>G
|
|
|
NM_001033855.3(DCLRE1C):c.363-23_363-15dup
|
|
|
NM_001033855.3(DCLRE1C):c.363-2A>G
|
rs2130956855
|
|
NM_001033855.3(DCLRE1C):c.363-4T>C
|
|
|
NM_001033855.3(DCLRE1C):c.363-5T>A
|
rs1839771977
|
|
NM_001033855.3(DCLRE1C):c.363-5T>C
|
|
|
NM_001033855.3(DCLRE1C):c.363G>T (p.Met121Ile)
|
rs1839771032
|
|
NM_001033855.3(DCLRE1C):c.369A>G (p.Leu123=)
|
rs2130956789
|
|
NM_001033855.3(DCLRE1C):c.390T>A (p.Thr130=)
|
|
|
NM_001033855.3(DCLRE1C):c.390T>C (p.Thr130=)
|
rs142549502
|
|
NM_001033855.3(DCLRE1C):c.390T>G (p.Thr130=)
|
rs142549502
|
|
NM_001033855.3(DCLRE1C):c.393C>A (p.Val131=)
|
|
|
NM_001033855.3(DCLRE1C):c.394C>T (p.Leu132=)
|
rs2130956465
|
|
NM_001033855.3(DCLRE1C):c.399C>T (p.Tyr133=)
|
rs764990444
|
|
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg)
|
rs786205456
|
|
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)
|
rs1839765652
|
|
NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)
|
|
|
NM_001033855.3(DCLRE1C):c.414A>G (p.Arg138=)
|
|
|
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.41T>C (p.Ile14Thr)
|
rs752159513
|
|
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser)
|
rs752159513
|
|
NM_001033855.3(DCLRE1C):c.420G>C (p.Ala140=)
|
rs146832860
|
|
NM_001033855.3(DCLRE1C):c.420G>T (p.Ala140=)
|
|
|
NM_001033855.3(DCLRE1C):c.423A>G (p.Gln141=)
|
rs143949881
|
|
NM_001033855.3(DCLRE1C):c.426A>C (p.Gly142=)
|
|
|
NM_001033855.3(DCLRE1C):c.426_464+123del
|
|
|
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs)
|
rs1589070600
|
|
NM_001033855.3(DCLRE1C):c.453C>T (p.His151=)
|
|
|
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp)
|
rs41297018
|
|
NM_001033855.3(DCLRE1C):c.45C>A (p.Ser15=)
|
rs764872812
|
|
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)
|
rs1404214090
|
|
NM_001033855.3(DCLRE1C):c.462C>T (p.Gly154=)
|
|
|
NM_001033855.3(DCLRE1C):c.464+10C>G
|
|
|
NM_001033855.3(DCLRE1C):c.464+12C>T
|
|
|
NM_001033855.3(DCLRE1C):c.464+13G>T
|
|
|
NM_001033855.3(DCLRE1C):c.464+17A>G
|
|
|
NM_001033855.3(DCLRE1C):c.464+18G>C
|
|
|
NM_001033855.3(DCLRE1C):c.464+19G>A
|
rs575451437
|
|
NM_001033855.3(DCLRE1C):c.464+19G>C
|
|
|
NM_001033855.3(DCLRE1C):c.464+20T>C
|
|
|
NM_001033855.3(DCLRE1C):c.464+2T>C
|
|
|
NM_001033855.3(DCLRE1C):c.464+8G>A
|
rs2130954924
|
|
NM_001033855.3(DCLRE1C):c.464+8G>C
|
rs2130954924
|
|
NM_001033855.3(DCLRE1C):c.464+9C>A
|
rs1362074694
|
|
NM_001033855.3(DCLRE1C):c.464+9C>T
|
rs1362074694
|
|
NM_001033855.3(DCLRE1C):c.465-13T>G
|
|
|
NM_001033855.3(DCLRE1C):c.465-16T>C
|
|
|
NM_001033855.3(DCLRE1C):c.465-16dup
|
rs1478774298
|
|
NM_001033855.3(DCLRE1C):c.465-17A>G
|
|
|
NM_001033855.3(DCLRE1C):c.465-1G>A
|
|
|
NM_001033855.3(DCLRE1C):c.465-1G>C
|
rs2130944445
|
|
NM_001033855.3(DCLRE1C):c.465-2A>C
|
rs1839625956
|
|
NM_001033855.3(DCLRE1C):c.465-2A>G
|
|
|
NM_001033855.3(DCLRE1C):c.465-8C>A
|
rs1218480223
|
|
NM_001033855.3(DCLRE1C):c.470A>C (p.Lys157Thr)
|
rs1839624547
|
|
NM_001033855.3(DCLRE1C):c.477C>T (p.Ile159=)
|
rs2130944259
|
|
NM_001033855.3(DCLRE1C):c.480A>G (p.Gln160=)
|
rs747620492
|
|
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)
|
rs1839622622
|
|
NM_001033855.3(DCLRE1C):c.483T>C (p.Ser161=)
|
|
|
NM_001033855.3(DCLRE1C):c.484_487dup (p.Tyr163fs)
|
|
|
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)
|
|
|
NM_001033855.3(DCLRE1C):c.489T>C (p.Tyr163=)
|
|
|
NM_001033855.3(DCLRE1C):c.490T>C (p.Leu164=)
|
rs1279014555
|
|
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.495T>C (p.Asp165=)
|
|
|
NM_001033855.3(DCLRE1C):c.499A>G (p.Thr167Ala)
|
rs2130943678
|
|
NM_001033855.3(DCLRE1C):c.501G>C (p.Thr167=)
|
rs750407775
|
|
NM_001033855.3(DCLRE1C):c.504C>T (p.Phe168=)
|
rs61749165
|
|
NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)
|
|
|
NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly)
|
rs1842831150
|
|
NM_001033855.3(DCLRE1C):c.511_512delinsTG (p.Pro171Ter)
|
rs2130943393
|
|
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)
|
rs1340132582
|
|
NM_001033855.3(DCLRE1C):c.525A>G (p.Gln175=)
|
|
|
NM_001033855.3(DCLRE1C):c.528T>C (p.Ile176=)
|
|
|
NM_001033855.3(DCLRE1C):c.537+12T>A
|
|
|
NM_001033855.3(DCLRE1C):c.537+16G>A
|
|
|
NM_001033855.3(DCLRE1C):c.537+17G>T
|
|
|
NM_001033855.3(DCLRE1C):c.537+1G>T
|
|
|
NM_001033855.3(DCLRE1C):c.537+20C>T
|
rs199843069
|
|
NM_001033855.3(DCLRE1C):c.537+7C>G
|
rs1421714770
|
|
NM_001033855.3(DCLRE1C):c.538-19T>G
|
|
|
NM_001033855.3(DCLRE1C):c.538-1G>C
|
|
|
NM_001033855.3(DCLRE1C):c.538-6G>C
|
rs1322651521
|
|
NM_001033855.3(DCLRE1C):c.538-7T>C
|
rs1279224531
|
|
NM_001033855.3(DCLRE1C):c.538-9C>G
|
|
|
NM_001033855.3(DCLRE1C):c.539A>T (p.Glu180Val)
|
rs1839576830
|
|
NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His)
|
rs1842830903
|
|
NM_001033855.3(DCLRE1C):c.543G>A (p.Glu181=)
|
|
|
NM_001033855.3(DCLRE1C):c.54C>T (p.Arg18=)
|
rs536637310
|
|
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp)
|
rs1468919857
|
|
NM_001033855.3(DCLRE1C):c.565del (p.Leu189fs)
|
|
|
NM_001033855.3(DCLRE1C):c.567G>C (p.Leu189=)
|
|
|
NM_001033855.3(DCLRE1C):c.570C>G (p.Val190=)
|
|
|
NM_001033855.3(DCLRE1C):c.570C>T (p.Val190=)
|
rs758540828
|
|
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)
|
rs752655158
|
|
NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu)
|
|
|
NM_001033855.3(DCLRE1C):c.57C>T (p.Phe19=)
|
rs1457686297
|
|
NM_001033855.3(DCLRE1C):c.588G>C (p.Arg196=)
|
rs2130939090
|
|
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=)
|
rs138120763
|
|
NM_001033855.3(DCLRE1C):c.594G>C (p.Pro198=)
|
rs138120763
|
|
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)
|
rs121908157
|
|
NM_001033855.3(DCLRE1C):c.600T>C (p.His200=)
|
rs370483890
|
|
NM_001033855.3(DCLRE1C):c.60T>C (p.Asp20=)
|
|
|
NM_001033855.3(DCLRE1C):c.615C>T (p.Asn205=)
|
rs914039818
|
|
NM_001033855.3(DCLRE1C):c.624G>T (p.Ala208=)
|
rs770874430
|
|
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs)
|
rs1839558393
|
|
NM_001033855.3(DCLRE1C):c.629del (p.Tyr210fs)
|
rs2130938370
|
|
NM_001033855.3(DCLRE1C):c.630T>C (p.Tyr210=)
|
rs1839557963
|
|
NM_001033855.3(DCLRE1C):c.633C>A (p.Gly211=)
|
|
|
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn)
|
rs1839556682
|
|
NM_001033855.3(DCLRE1C):c.636T>C (p.Tyr212=)
|
|
|
NM_001033855.3(DCLRE1C):c.648C>T (p.Phe216=)
|
|
|
NM_001033855.3(DCLRE1C):c.650C>T (p.Thr217Ile)
|
|
|
NM_001033855.3(DCLRE1C):c.651C>T (p.Thr217=)
|
rs1197869661
|
|
NM_001033855.3(DCLRE1C):c.655del (p.Ser220fs)
|
|
|
NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.671G>A (p.Gly224Glu)
|
|
|
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs)
|
rs1407251815
|
|
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.678+10C>T
|
|
|
NM_001033855.3(DCLRE1C):c.678+12G>C
|
|
|
NM_001033855.3(DCLRE1C):c.678+17T>C
|
|
|
NM_001033855.3(DCLRE1C):c.678+18T>C
|
|
|
NM_001033855.3(DCLRE1C):c.678+18T>G
|
rs775176227
|
|
NM_001033855.3(DCLRE1C):c.678+19C>A
|
|
|
NM_001033855.3(DCLRE1C):c.678+19C>G
|
|
|
NM_001033855.3(DCLRE1C):c.678+1G>A
|
|
|
NM_001033855.3(DCLRE1C):c.678+2T>G
|
|
|
NM_001033855.3(DCLRE1C):c.678+5G>A
|
rs750695358
|
|
NM_001033855.3(DCLRE1C):c.678+7T>C
|
|
|
NM_001033855.3(DCLRE1C):c.679-10T>C
|
|
|
NM_001033855.3(DCLRE1C):c.679-12T>C
|
|
|
NM_001033855.3(DCLRE1C):c.679-14A>G
|
|
|
NM_001033855.3(DCLRE1C):c.679-14A>T
|
|
|
NM_001033855.3(DCLRE1C):c.679-17T>C
|
|
|
NM_001033855.3(DCLRE1C):c.679-1G>T
|
rs2130918080
|
|
NM_001033855.3(DCLRE1C):c.679-20G>C
|
|
|
NM_001033855.3(DCLRE1C):c.679-4T>C
|
|
|
NM_001033855.3(DCLRE1C):c.679-7G>A
|
rs774274135
|
|
NM_001033855.3(DCLRE1C):c.684T>C (p.His228=)
|
|
|
NM_001033855.3(DCLRE1C):c.690T>C (p.Asn230=)
|
rs2130917882
|
|
NM_001033855.3(DCLRE1C):c.693G>A (p.Lys231=)
|
|
|
NM_001033855.3(DCLRE1C):c.699C>A (p.Asp233Glu)
|
rs1163772028
|
|
NM_001033855.3(DCLRE1C):c.706A>C (p.Arg236=)
|
|
|
NM_001033855.3(DCLRE1C):c.70C>T (p.Leu24=)
|
|
|
NM_001033855.3(DCLRE1C):c.712A>G (p.Met238Val)
|
rs757591183
|
|
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)
|
|
|
NM_001033855.3(DCLRE1C):c.717T>C (p.Pro239=)
|
|
|
NM_001033855.3(DCLRE1C):c.723C>T (p.Ile241=)
|
rs768379953
|
|
NM_001033855.3(DCLRE1C):c.726T>G (p.Leu242=)
|
|
|
NM_001033855.3(DCLRE1C):c.72G>A (p.Leu24=)
|
rs760707626
|
|
NM_001033855.3(DCLRE1C):c.730C>T (p.His244Tyr)
|
|
|
NM_001033855.3(DCLRE1C):c.735C>T (p.Leu245=)
|
rs1839266310
|
|
NM_001033855.3(DCLRE1C):c.739A>G (p.Thr247Ala)
|
|
|
NM_001033855.3(DCLRE1C):c.741A>C (p.Thr247=)
|
|
|
NM_001033855.3(DCLRE1C):c.746G>T (p.Arg249Leu)
|
|
|
NM_001033855.3(DCLRE1C):c.752C>G (p.Thr251Ser)
|
|
|
NM_001033855.3(DCLRE1C):c.753T>A (p.Thr251=)
|
|
|
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)
|
rs1589050343
|
|
NM_001033855.3(DCLRE1C):c.759C>A (p.Ile253=)
|
|
|
NM_001033855.3(DCLRE1C):c.765A>G (p.Ala255=)
|
|
|
NM_001033855.3(DCLRE1C):c.765A>T (p.Ala255=)
|
rs1262815563
|
|
NM_001033855.3(DCLRE1C):c.767G>A (p.Cys256Tyr)
|
rs1839258333
|
|
NM_001033855.3(DCLRE1C):c.768C>T (p.Cys256=)
|
rs1839257941
|
|
NM_001033855.3(DCLRE1C):c.769C>T (p.Arg257Trp)
|
|
|
NM_001033855.3(DCLRE1C):c.774T>A (p.His258Gln)
|
rs2130916220
|
|
NM_001033855.3(DCLRE1C):c.774T>C (p.His258=)
|
|
|
NM_001033855.3(DCLRE1C):c.779A>G (p.Lys260Arg)
|
rs1839255605
|
|
NM_001033855.3(DCLRE1C):c.780+13G>C
|
|
|
NM_001033855.3(DCLRE1C):c.780+16_780+30del
|
|
|
NM_001033855.3(DCLRE1C):c.780+1G>C
|
rs1839255008
|
|
NM_001033855.3(DCLRE1C):c.780+1del
|
rs786205074
|
|
NM_001033855.3(DCLRE1C):c.780+20C>T
|
|
|
NM_001033855.3(DCLRE1C):c.780+6T>C
|
|
|
NM_001033855.3(DCLRE1C):c.780+6T>G
|
rs745917460
|
|
NM_001033855.3(DCLRE1C):c.780+7G>C
|
rs373071122
|
|
NM_001033855.3(DCLRE1C):c.781-10T>C
|
rs2130853443
|
|
NM_001033855.3(DCLRE1C):c.781-11_781-7del
|
rs2130853345
|
|
NM_001033855.3(DCLRE1C):c.781-18G>C
|
|
|
NM_001033855.3(DCLRE1C):c.781-1G>A
|
|
|
NM_001033855.3(DCLRE1C):c.781-20A>G
|
|
|
NM_001033855.3(DCLRE1C):c.781-4T>A
|
|
|
NM_001033855.3(DCLRE1C):c.781-7T>C
|
|
|
NM_001033855.3(DCLRE1C):c.781-8T>A
|
rs2130853374
|
|
NM_001033855.3(DCLRE1C):c.781-9C>G
|
|
|
NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.792T>C (p.Tyr264=)
|
|
|
NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter)
|
rs2130853055
|
|
NM_001033855.3(DCLRE1C):c.803G>A (p.Ser268Asn)
|
rs1838331843
|
|
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter)
|
rs1346260747
|
|
NM_001033855.3(DCLRE1C):c.822del (p.Thr275fs)
|
|
|
NM_001033855.3(DCLRE1C):c.828C>T (p.Ser276=)
|
|
|
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
|
|
|
NM_001033855.3(DCLRE1C):c.835A>G (p.Arg279Gly)
|
|
|
NM_001033855.3(DCLRE1C):c.840T>A (p.Ile280=)
|
|
|
NM_001033855.3(DCLRE1C):c.846C>A (p.Leu282=)
|
|
|
NM_001033855.3(DCLRE1C):c.846C>T (p.Leu282=)
|
rs1279137505
|
|
NM_001033855.3(DCLRE1C):c.84C>A (p.Ala28=)
|
rs772007901
|
|
NM_001033855.3(DCLRE1C):c.850A>G (p.Ile284Val)
|
|
|
NM_001033855.3(DCLRE1C):c.867A>G (p.Pro289=)
|
|
|
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys)
|
rs1589019320
|
|
NM_001033855.3(DCLRE1C):c.889A>C (p.Arg297=)
|
rs2130851921
|
|
NM_001033855.3(DCLRE1C):c.891G>A (p.Arg297=)
|
|
|
NM_001033855.3(DCLRE1C):c.897A>G (p.Arg299=)
|
rs2130851754
|
|
NM_001033855.3(DCLRE1C):c.901A>C (p.Thr301Pro)
|
|
|
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr)
|
rs748516669
|
|
NM_001033855.3(DCLRE1C):c.906T>C (p.Asn302=)
|
rs2130851538
|
|
NM_001033855.3(DCLRE1C):c.909A>G (p.Val303=)
|
|
|
NM_001033855.3(DCLRE1C):c.917+10C>A
|
|
|
NM_001033855.3(DCLRE1C):c.917+12A>G
|
|
|
NM_001033855.3(DCLRE1C):c.917+15T>C
|
|
|
NM_001033855.3(DCLRE1C):c.917+15T>G
|
|
|
NM_001033855.3(DCLRE1C):c.917+17A>G
|
|
|
NM_001033855.3(DCLRE1C):c.917+1G>A
|
rs1564418254
|
|
NM_001033855.3(DCLRE1C):c.917+20G>T
|
|
|
NM_001033855.3(DCLRE1C):c.917+4AG[2]
|
|
|
NM_001033855.3(DCLRE1C):c.917+9G>A
|
|
|
NM_001033855.3(DCLRE1C):c.918-11C>T
|
rs1838091057
|
|
NM_001033855.3(DCLRE1C):c.918-14T>C
|
|
|
NM_001033855.3(DCLRE1C):c.918-14del
|
rs1333161578
|
|
NM_001033855.3(DCLRE1C):c.918-18_918-17del
|
|
|
NM_001033855.3(DCLRE1C):c.918-3T>C
|
rs770226530
|
|
NM_001033855.3(DCLRE1C):c.918-6C>G
|
|
|
NM_001033855.3(DCLRE1C):c.918-6del
|
rs1838090563
|
|
NM_001033855.3(DCLRE1C):c.918-8C>T
|
|
|
NM_001033855.3(DCLRE1C):c.91C>T (p.Leu31=)
|
|
|
NM_001033855.3(DCLRE1C):c.923G>A (p.Gly308Glu)
|
rs746582322
|
|
NM_001033855.3(DCLRE1C):c.925G>C (p.Glu309Gln)
|
rs1838087325
|
|
NM_001033855.3(DCLRE1C):c.928_929del (p.Ser310fs)
|
rs1564414831
|
|
NM_001033855.3(DCLRE1C):c.936C>T (p.Tyr312=)
|
rs1268452853
|
|
NM_001033855.3(DCLRE1C):c.939_972+715del
|
|
|
NM_001033855.3(DCLRE1C):c.940G>T (p.Ala314Ser)
|
|
|
NM_001033855.3(DCLRE1C):c.951T>C (p.Ser317=)
|
rs1206652720
|
|
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)
|
|
|
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)
|
rs969498121
|
|
NM_001033855.3(DCLRE1C):c.966C>T (p.Tyr322=)
|
|
|
NM_001033855.3(DCLRE1C):c.967A>T (p.Ser323Cys)
|
rs780156393
|
|
NM_001033855.3(DCLRE1C):c.96C>T (p.Ser32=)
|
rs2131238252
|
|
NM_001033855.3(DCLRE1C):c.971A>G (p.Glu324Gly)
|
rs1838077116
|
|
NM_001033855.3(DCLRE1C):c.972+12C>A
|
|
|
NM_001033855.3(DCLRE1C):c.972+13C>G
|
|
|
NM_001033855.3(DCLRE1C):c.972+14A>C
|
|
|
NM_001033855.3(DCLRE1C):c.972+14A>G
|
rs1055606065
|
|
NM_001033855.3(DCLRE1C):c.972+18_972+19insCATATAAT
|
|
|
NM_001033855.3(DCLRE1C):c.972+1G>C
|
rs1564414523
|
|
NM_001033855.3(DCLRE1C):c.972+9A>G
|
|
|
NM_001033855.3(DCLRE1C):c.973-10C>T
|
|
|
NM_001033855.3(DCLRE1C):c.973-14T>C
|
|
|
NM_001033855.3(DCLRE1C):c.973-18T>C
|
|
|
NM_001033855.3(DCLRE1C):c.973-19G>A
|
|
|
NM_001033855.3(DCLRE1C):c.973-19_973-14del
|
rs2130786455
|
|
NM_001033855.3(DCLRE1C):c.973-4C>A
|
rs1478233633
|
|
NM_001033855.3(DCLRE1C):c.973-7T>A
|
|
|
NM_001033855.3(DCLRE1C):c.973-8T>A
|
rs2130786330
|
|
NM_001033855.3(DCLRE1C):c.973-8T>G
|
rs2130786330
|
|
NM_001033855.3(DCLRE1C):c.973-9T>C
|
|
|
NM_001033855.3(DCLRE1C):c.97C>T (p.His33Tyr)
|
rs1842826599
|
|
NM_001033855.3(DCLRE1C):c.994C>T (p.Leu332Phe)
|
rs1837374235
|
|
NM_001033855.3(DCLRE1C):c.995T>G (p.Leu332Arg)
|
|
|
NM_001033855.3(DCLRE1C):c.996C>G (p.Leu332=)
|
rs2130785879
|
|
NM_001033855.3(DCLRE1C):c.9T>G (p.Ser3=)
|
|
|
NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)
|
|
|
NM_001625.4(AK2):c.118del (p.Cys40fs)
|
rs387906581
|
|
NM_001625.4(AK2):c.128A>G (p.His43Arg)
|
rs1639754142
|
|
NM_001625.4(AK2):c.129T>C (p.His43=)
|
|
|
NM_001625.4(AK2):c.132A>G (p.Leu44=)
|
|
|
NM_001625.4(AK2):c.141G>T (p.Gly47=)
|
|
|
NM_001625.4(AK2):c.154G>C (p.Ala52Pro)
|
rs1553152678
|
|
NM_001625.4(AK2):c.165T>C (p.Ala55=)
|
|
|
NM_001625.4(AK2):c.179T>A (p.Leu60Gln)
|
rs2124345322
|
|
NM_001625.4(AK2):c.196G>A (p.Ala66Thr)
|
|
|
NM_001625.4(AK2):c.203T>C (p.Met68Thr)
|
rs1639747572
|
|
NM_001625.4(AK2):c.216A>G (p.Lys72=)
|
rs2124345022
|
|
NM_001625.4(AK2):c.219+16C>T
|
|
|
NM_001625.4(AK2):c.219+20T>A
|
rs377400886
|
|
NM_001625.4(AK2):c.219+20T>C
|
|
|
NM_001625.4(AK2):c.220-12C>T
|
|
|
NM_001625.4(AK2):c.220-2dup
|
rs2124330418
|
|
NM_001625.4(AK2):c.220-5del
|
rs752085550
|
|
NM_001625.4(AK2):c.224G>A (p.Ser75Asn)
|
rs140838488
|
|
NM_001625.4(AK2):c.25G>T (p.Glu9Ter)
|
rs267606647
|
|
NM_001625.4(AK2):c.284G>A (p.Gly95Asp)
|
rs1639563562
|
|
NM_001625.4(AK2):c.307C>T (p.Arg103Trp)
|
rs267606648
|
|
NM_001625.4(AK2):c.322G>A (p.Ala108Thr)
|
rs1639560113
|
|
NM_001625.4(AK2):c.330+18T>C
|
|
|
NM_001625.4(AK2):c.330+5G>A
|
rs1569646997
|
|
NM_001625.4(AK2):c.331-12A>G
|
rs2124328960
|
|
NM_001625.4(AK2):c.331-15C>T
|
|
|
NM_001625.4(AK2):c.331-1G>A
|
rs1192619329
|
|
NM_001625.4(AK2):c.331-3C>T
|
rs759338139
|
|
NM_001625.4(AK2):c.336_338del (p.Asp113del)
|
rs1639549493
|
|
NM_001625.4(AK2):c.343A>T (p.Met115Leu)
|
rs552302095
|
|
NM_001625.4(AK2):c.346G>A (p.Glu116Lys)
|
|
|
NM_001625.4(AK2):c.35A>G (p.Tyr12Cys)
|
rs763415295
|
|
NM_001625.4(AK2):c.374_375del (p.Val125fs)
|
|
|
NM_001625.4(AK2):c.376A>G (p.Ile126Val)
|
rs747116598
|
|
NM_001625.4(AK2):c.409C>T (p.Arg137Ter)
|
rs1476680673
|
|
NM_001625.4(AK2):c.424A>G (p.Arg142Gly)
|
|
|
NM_001625.4(AK2):c.425+14G>C
|
|
|
NM_001625.4(AK2):c.426-17_426-14del
|
|
|
NM_001625.4(AK2):c.426-19T>C
|
|
|
NM_001625.4(AK2):c.426-20_426-19del
|
rs751605899
|
|
NM_001625.4(AK2):c.429G>C (p.Leu143=)
|
|
|
NM_001625.4(AK2):c.432T>G (p.Ile144Met)
|
|
|
NM_001625.4(AK2):c.453C>A (p.Ser151=)
|
|
|
NM_001625.4(AK2):c.453del (p.Tyr152fs)
|
rs1553151177
|
|
NM_001625.4(AK2):c.457C>G (p.His153Asp)
|
rs1164598375
|
|
NM_001625.4(AK2):c.462G>T (p.Glu154Asp)
|
rs1569584622
|
|
NM_001625.4(AK2):c.463G>A (p.Glu155Lys)
|
|
|
NM_001625.4(AK2):c.465G>A (p.Glu155=)
|
|
|
NM_001625.4(AK2):c.471C>G (p.Asn157Lys)
|
rs146442876
|
|
NM_001625.4(AK2):c.471C>T (p.Asn157=)
|
|
|
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+14G>A
|
|
|
NM_001625.4(AK2):c.498+14G>T
|
|
|
NM_001625.4(AK2):c.49C>A (p.Arg17=)
|
|
|
NM_001625.4(AK2):c.523del (p.Arg175fs)
|
rs1553150995
|
|
NM_001625.4(AK2):c.524G>C (p.Arg175Pro)
|
rs1243124080
|
|
NM_001625.4(AK2):c.530A>G (p.Asp177Gly)
|
rs1638970615
|
|
NM_001625.4(AK2):c.543G>C (p.Lys181Asn)
|
rs72884305
|
|
NM_001625.4(AK2):c.545C>A (p.Ala182Asp)
|
rs559947967
|
|
NM_001625.4(AK2):c.545C>T (p.Ala182Val)
|
rs559947967
|
|
NM_001625.4(AK2):c.571C>G (p.His191Asp)
|
rs80324279
|
|
NM_001625.4(AK2):c.575C>A (p.Thr192Asn)
|
rs1327622268
|
|
NM_001625.4(AK2):c.580A>G (p.Thr194Ala)
|
rs2124279813
|
|
NM_001625.4(AK2):c.597_599dup (p.Tyr200Ter)
|
rs2124279569
|
|
NM_001625.4(AK2):c.605G>C (p.Arg202Thr)
|
rs2124279468
|
|
NM_001625.4(AK2):c.60G>A (p.Leu20=)
|
rs1207555639
|
|
NM_001625.4(AK2):c.614_615del (p.Gly205fs)
|
rs746465070
|
|
NM_001625.4(AK2):c.622T>C (p.Ser208Pro)
|
rs776378314
|
|
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.634G>A (p.Ala212Thr)
|
rs1638952544
|
|
NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)
|
|
|
NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa)
|
rs1570186429
|
|
NM_001625.4(AK2):c.654C>T (p.Val218=)
|
rs765292604
|
|
NM_001625.4(AK2):c.697A>T (p.Lys233Ter)
|
rs267606646
|
|
NM_001625.4(AK2):c.698_703delinsGACACATAAACATAAACATAAACTCA (p.Lys233fs)
|
|
|
NM_001625.4(AK2):c.708_710dup (p.Val236_Met237insIle)
|
rs2124278114
|
|
NM_001625.4(AK2):c.714dup (p.Ile239fs)
|
rs2124278051
|
|
NM_001625.4(AK2):c.720A>G (p.Ter240=)
|
rs375860853
|
|
NM_001625.4(AK2):c.79G>A (p.Gly27Ser)
|
rs1310763684
|
|
NM_001625.4(AK2):c.79G>C (p.Gly27Arg)
|
|
|
NM_001625.4(AK2):c.84dup (p.Gly29fs)
|
rs1640610158
|
|
NM_001625.4(AK2):c.87G>A (p.Gly29=)
|
|
|
NM_001625.4(AK2):c.89C>A (p.Thr30Asn)
|
rs2124403046
|
|
NM_001625.4(AK2):c.94-8C>G
|
|
|
NM_001625.4(AK2):c.98C>A (p.Pro33His)
|
|
|
NM_001625.4(AK2):c.9C>T (p.Pro3=)
|
rs2124403783
|
|
NM_002872.5(RAC2):c.101C>A (p.Pro34His)
|
rs1927393826
|
|
NM_002872.5(RAC2):c.101C>G (p.Pro34Arg)
|
|
|
NM_002872.5(RAC2):c.108-11G>A
|
|
|
NM_002872.5(RAC2):c.108-19C>T
|
|
|
NM_002872.5(RAC2):c.108-20G>A
|
|
|
NM_002872.5(RAC2):c.108-8C>G
|
rs1601672720
|
|
NM_002872.5(RAC2):c.10A>G (p.Ile4Val)
|
|
|
NM_002872.5(RAC2):c.12C>T (p.Ile4=)
|
rs996009169
|
|
NM_002872.5(RAC2):c.141C>T (p.Asp47=)
|
|
|
NM_002872.5(RAC2):c.162G>A (p.Gly54=)
|
|
|
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.175G>T (p.Ala59Ser)
|
rs2145824957
|
|
NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)
|
|
|
NM_002872.5(RAC2):c.183G>A (p.Gln61=)
|
|
|
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)
|
rs1555908409
|
|
NM_002872.5(RAC2):c.187G>A (p.Asp63Asn)
|
rs1927110250
|
|
NM_002872.5(RAC2):c.197G>A (p.Arg66His)
|
|
|
NM_002872.5(RAC2):c.202C>T (p.Arg68Trp)
|
|
|
NM_002872.5(RAC2):c.203G>A (p.Arg68Gln)
|
rs1927109339
|
|
NM_002872.5(RAC2):c.206C>T (p.Pro69Leu)
|
|
|
NM_002872.5(RAC2):c.207G>A (p.Pro69=)
|
rs755454147
|
|
NM_002872.5(RAC2):c.207G>C (p.Pro69=)
|
|
|
NM_002872.5(RAC2):c.225+13C>T
|
|
|
NM_002872.5(RAC2):c.225+16C>T
|
|
|
NM_002872.5(RAC2):c.225G>A (p.Thr75=)
|
|
|
NM_002872.5(RAC2):c.226-10C>G
|
|
|
NM_002872.5(RAC2):c.226-13G>T
|
|
|
NM_002872.5(RAC2):c.226-14T>C
|
|
|
NM_002872.5(RAC2):c.226-17G>A
|
|
|
NM_002872.5(RAC2):c.226-19_226-17del
|
|
|
NM_002872.5(RAC2):c.226-21dup
|
rs11374583
|
|
NM_002872.5(RAC2):c.228C>T (p.Asp76=)
|
|
|
NM_002872.5(RAC2):c.249C>T (p.Ser83=)
|
|
|
NM_002872.5(RAC2):c.258C>T (p.Ser86=)
|
|
|
NM_002872.5(RAC2):c.261A>T (p.Pro87=)
|
|
|
NM_002872.5(RAC2):c.264C>G (p.Ala88=)
|
|
|
NM_002872.5(RAC2):c.275A>C (p.Asn92Thr)
|
rs1927078072
|
|
NM_002872.5(RAC2):c.276C>G (p.Asn92Lys)
|
rs768931430
|
|
NM_002872.5(RAC2):c.277G>A (p.Val93Ile)
|
|
|
NM_002872.5(RAC2):c.288+10A>G
|
rs2145824091
|
|
NM_002872.5(RAC2):c.288+11C>T
|
|
|
NM_002872.5(RAC2):c.288+11del
|
|
|
NM_002872.5(RAC2):c.288+14G>T
|
|
|
NM_002872.5(RAC2):c.288+15G>C
|
rs1271458258
|
|
NM_002872.5(RAC2):c.288+16T>C
|
|
|
NM_002872.5(RAC2):c.288+3G>C
|
|
|
NM_002872.5(RAC2):c.289-6G>T
|
|
|
NM_002872.5(RAC2):c.298G>A (p.Glu100Lys)
|
|
|
NM_002872.5(RAC2):c.304C>T (p.Arg102Trp)
|
rs1415916204
|
|
NM_002872.5(RAC2):c.317C>G (p.Pro106Arg)
|
|
|
NM_002872.5(RAC2):c.31G>A (p.Asp11Asn)
|
rs1601679010
|
|
NM_002872.5(RAC2):c.328A>G (p.Ile110Val)
|
rs1248326902
|
|
NM_002872.5(RAC2):c.32A>T (p.Asp11Val)
|
rs1445302825
|
|
NM_002872.5(RAC2):c.333C>A (p.Ile111=)
|
|
|
NM_002872.5(RAC2):c.340G>C (p.Gly114Arg)
|
|
|
NM_002872.5(RAC2):c.347A>G (p.Lys116Arg)
|
rs978951259
|
|
NM_002872.5(RAC2):c.349C>A (p.Leu117Met)
|
|
|
NM_002872.5(RAC2):c.35+15G>T
|
rs748808662
|
|
NM_002872.5(RAC2):c.35+20T>C
|
|
|
NM_002872.5(RAC2):c.35+20T>G
|
rs747917580
|
|
NM_002872.5(RAC2):c.36-16A>G
|
|
|
NM_002872.5(RAC2):c.36-18G>A
|
|
|
NM_002872.5(RAC2):c.363C>A (p.Asp121Glu)
|
|
|
NM_002872.5(RAC2):c.369G>A (p.Lys123=)
|
|
|
NM_002872.5(RAC2):c.371A>G (p.Asp124Gly)
|
|
|
NM_002872.5(RAC2):c.378C>T (p.Ile126=)
|
|
|
NM_002872.5(RAC2):c.40G>A (p.Val14Met)
|
|
|
NM_002872.5(RAC2):c.426C>T (p.Gly142=)
|
|
|
NM_002872.5(RAC2):c.427C>T (p.Leu143=)
|
|
|
NM_002872.5(RAC2):c.432A>C (p.Ala144=)
|
|
|
NM_002872.5(RAC2):c.448+11C>T
|
rs530853255
|
|
NM_002872.5(RAC2):c.448+18A>C
|
|
|
NM_002872.5(RAC2):c.448+25C>G
|
rs9610683
|
|
NM_002872.5(RAC2):c.448+7G>T
|
|
|
NM_002872.5(RAC2):c.449-15C>T
|
|
|
NM_002872.5(RAC2):c.450C>T (p.Asp150=)
|
rs781040687
|
|
NM_002872.5(RAC2):c.452C>G (p.Ser151Trp)
|
|
|
NM_002872.5(RAC2):c.452C>T (p.Ser151Leu)
|
|
|
NM_002872.5(RAC2):c.45C>T (p.Gly15=)
|
|
|
NM_002872.5(RAC2):c.474A>G (p.Ser158=)
|
rs1195995740
|
|
NM_002872.5(RAC2):c.47A>G (p.Lys16Arg)
|
|
|
NM_002872.5(RAC2):c.483C>T (p.Thr161=)
|
rs1601667909
|
|
NM_002872.5(RAC2):c.501C>G (p.Thr167=)
|
|
|
NM_002872.5(RAC2):c.511G>A (p.Glu171Lys)
|
rs561547070
|
|
NM_002872.5(RAC2):c.517A>C (p.Ile173Leu)
|
rs2145819300
|
|
NM_002872.5(RAC2):c.520C>A (p.Arg174=)
|
|
|
NM_002872.5(RAC2):c.520C>T (p.Arg174Trp)
|
rs1926846479
|
|
NM_002872.5(RAC2):c.521G>A (p.Arg174Gln)
|
|
|
NM_002872.5(RAC2):c.522G>A (p.Arg174=)
|
|
|
NM_002872.5(RAC2):c.525C>G (p.Ala175=)
|
|
|
NM_002872.5(RAC2):c.528G>A (p.Val176=)
|
rs2145819292
|
|
NM_002872.5(RAC2):c.544A>G (p.Thr182Ala)
|
rs775274909
|
|
NM_002872.5(RAC2):c.546G>A (p.Thr182=)
|
|
|
NM_002872.5(RAC2):c.547C>A (p.Arg183=)
|
|
|
NM_002872.5(RAC2):c.54C>G (p.Cys18Trp)
|
rs1927395509
|
|
NM_002872.5(RAC2):c.54C>T (p.Cys18=)
|
|
|
NM_002872.5(RAC2):c.559C>T (p.Arg187Cys)
|
rs2145819256
|
|
NM_002872.5(RAC2):c.567C>T (p.Cys189=)
|
|
|
NM_002872.5(RAC2):c.569G>C (p.Ser190Thr)
|
|
|
NM_002872.5(RAC2):c.75C>T (p.Thr25=)
|
|
|
NM_002872.5(RAC2):c.81C>A (p.Ala27=)
|
rs2239774
|
|
NM_002872.5(RAC2):c.87C>T (p.Pro29=)
|
|
|
NM_002872.5(RAC2):c.88G>A (p.Gly30Arg)
|
rs1927394221
|
|
NM_002872.5(RAC2):c.97A>G (p.Ile33Val)
|
rs2145831322
|
|
NM_005356.5(LCK):c.100G>C (p.Gly34Arg)
|
|
|
NM_005356.5(LCK):c.1014C>G (p.Ile338Met)
|
|
|
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro)
|
rs587777335
|
|
NM_005356.5(LCK):c.1029C>T (p.Asp343=)
|
rs1569966567
|
|
NM_005356.5(LCK):c.1041+17G>A
|
|
|
NM_005356.5(LCK):c.1041+18G>C
|
|
|
NM_005356.5(LCK):c.1042-15G>C
|
|
|
NM_005356.5(LCK):c.1042-18T>C
|
|
|
NM_005356.5(LCK):c.1047A>T (p.Ala349=)
|
rs1640395719
|
|
NM_005356.5(LCK):c.104C>T (p.Thr35Met)
|
rs1640192230
|
|
NM_005356.5(LCK):c.105+10G>A
|
|
|
NM_005356.5(LCK):c.105+11A>G
|
|
|
NM_005356.5(LCK):c.105+19G>A
|
|
|
NM_005356.5(LCK):c.106-14C>A
|
rs898277546
|
|
NM_005356.5(LCK):c.1064T>C (p.Ile355Thr)
|
rs1640396798
|
|
NM_005356.5(LCK):c.1065T>C (p.Ile355=)
|
|
|
NM_005356.5(LCK):c.1072C>A (p.Arg358=)
|
|
|
NM_005356.5(LCK):c.1080T>C (p.Tyr360=)
|
rs1379700432
|
|
NM_005356.5(LCK):c.1126del (p.Thr375_Leu376insTer)
|
|
|
NM_005356.5(LCK):c.1128G>A (p.Leu376=)
|
|
|
NM_005356.5(LCK):c.1129dup (p.Ser377fs)
|
rs1569967422
|
|
NM_005356.5(LCK):c.1140T>C (p.Ile380=)
|
|
|
NM_005356.5(LCK):c.115C>T (p.Arg39Ter)
|
|
|
NM_005356.5(LCK):c.1161C>A (p.Arg387=)
|
rs2124368892
|
|
NM_005356.5(LCK):c.1164C>T (p.Leu388=)
|
|
|
NM_005356.5(LCK):c.1179G>A (p.Glu393=)
|
|
|
NM_005356.5(LCK):c.1195+14T>A
|
|
|
NM_005356.5(LCK):c.1195+5G>A
|
|
|
NM_005356.5(LCK):c.1196-11C>T
|
|
|
NM_005356.5(LCK):c.1196-8C>G
|
|
|
NM_005356.5(LCK):c.1196-9C>T
|
|
|
NM_005356.5(LCK):c.1201A>T (p.Lys401Ter)
|
rs1640406042
|
|
NM_005356.5(LCK):c.1219A>G (p.Thr407Ala)
|
rs2124369330
|
|
NM_005356.5(LCK):c.1224G>A (p.Ala408=)
|
|
|
NM_005356.5(LCK):c.1240T>C (p.Tyr414His)
|
|
|
NM_005356.5(LCK):c.1242C>T (p.Tyr414=)
|
|
|
NM_005356.5(LCK):c.1245G>C (p.Gly415=)
|
|
|
NM_005356.5(LCK):c.1269G>A (p.Val423=)
|
|
|
NM_005356.5(LCK):c.1300G>T (p.Val434Phe)
|
rs758824898
|
|
NM_005356.5(LCK):c.1313G>A (p.Arg438His)
|
|
|
NM_005356.5(LCK):c.1318C>T (p.Pro440Ser)
|
|
|
NM_005356.5(LCK):c.1326A>C (p.Pro442=)
|
|
|
NM_005356.5(LCK):c.1327+12G>A
|
|
|
NM_005356.5(LCK):c.1328-10C>A
|
rs1328956722
|
|
NM_005356.5(LCK):c.1328-16_1328-15delinsGA
|
rs2124383765
|
|
NM_005356.5(LCK):c.1328-19_1328-17del
|
rs1197177836
|
|
NM_005356.5(LCK):c.1328-7C>T
|
rs577301476
|
|
NM_005356.5(LCK):c.1344G>A (p.Glu448=)
|
|
|
NM_005356.5(LCK):c.1353G>A (p.Gln451=)
|
|
|
NM_005356.5(LCK):c.1356C>A (p.Asn452Lys)
|
|
|
NM_005356.5(LCK):c.1356C>T (p.Asn452=)
|
|
|
NM_005356.5(LCK):c.1357C>G (p.Leu453Val)
|
rs200540406
|
|
NM_005356.5(LCK):c.1362G>A (p.Glu454=)
|
|
|
NM_005356.5(LCK):c.1373G>T (p.Arg458Leu)
|
rs1405031975
|
|
NM_005356.5(LCK):c.1380G>A (p.Val460=)
|
|
|
NM_005356.5(LCK):c.1393T>C (p.Cys465Arg)
|
|
|
NM_005356.5(LCK):c.142C>G (p.Leu48Val)
|
|
|
NM_005356.5(LCK):c.1440C>T (p.Arg480=)
|
rs2124384093
|
|
NM_005356.5(LCK):c.1452G>C (p.Arg484=)
|
rs1640592509
|
|
NM_005356.5(LCK):c.1458C>A (p.Thr486=)
|
rs1250759441
|
|
NM_005356.5(LCK):c.1476T>C (p.Ser492=)
|
|
|
NM_005356.5(LCK):c.1485G>A (p.Glu495=)
|
rs1640593891
|
|
NM_005356.5(LCK):c.1501A>C (p.Thr501Pro)
|
rs1640594194
|
|
NM_005356.5(LCK):c.1510C>A (p.Gln504Lys)
|
|
|
NM_005356.5(LCK):c.1514A>G (p.Tyr505Cys)
|
rs1569984631
|
|
NM_005356.5(LCK):c.1527TTGAGAGGCC[3] (p.Gln508_Ter510=)
|
rs768820203
|
|
NM_005356.5(LCK):c.1527_*6TTGAGAGGCC[1] (p.Pro509_Ter(510_?)(?))
|
|
|
NM_005356.5(LCK):c.154G>C (p.Glu52Gln)
|
|
|
NM_005356.5(LCK):c.15C>G (p.Cys5Trp)
|
rs1486428010
|
|
NM_005356.5(LCK):c.15C>T (p.Cys5=)
|
|
|
NM_005356.5(LCK):c.171G>A (p.Pro57=)
|
rs528967735
|
|
NM_005356.5(LCK):c.187G>A (p.Asp63Asn)
|
|
|
NM_005356.5(LCK):c.188-17G>T
|
|
|
NM_005356.5(LCK):c.188-2A>G
|
|
|
NM_005356.5(LCK):c.188-8del
|
|
|
NM_005356.5(LCK):c.192C>T (p.Asn64=)
|
|
|
NM_005356.5(LCK):c.214T>C (p.Tyr72His)
|
rs1393997550
|
|
NM_005356.5(LCK):c.222C>T (p.Pro74=)
|
rs768627081
|
|
NM_005356.5(LCK):c.238C>G (p.Leu80Val)
|
|
|
NM_005356.5(LCK):c.244T>C (p.Phe82Leu)
|
|
|
NM_005356.5(LCK):c.255G>C (p.Gly85=)
|
|
|
NM_005356.5(LCK):c.265C>G (p.Arg89Gly)
|
|
|
NM_005356.5(LCK):c.270C>G (p.Ile90Met)
|
rs1640215337
|
|
NM_005356.5(LCK):c.279-4G>T
|
rs375477745
|
|
NM_005356.5(LCK):c.279-8T>C
|
|
|
NM_005356.5(LCK):c.283G>C (p.Gly95Arg)
|
rs377653414
|
|
NM_005356.5(LCK):c.297G>A (p.Lys99=)
|
rs2124353891
|
|
NM_005356.5(LCK):c.306C>T (p.Ser102=)
|
|
|
NM_005356.5(LCK):c.30A>T (p.Glu10Asp)
|
rs2124350577
|
|
NM_005356.5(LCK):c.318C>T (p.Gly106=)
|
rs1640227427
|
|
NM_005356.5(LCK):c.326G>T (p.Gly109Val)
|
rs2124353988
|
|
NM_005356.5(LCK):c.333C>T (p.Ile111=)
|
rs942638932
|
|
NM_005356.5(LCK):c.356C>A (p.Ala119Glu)
|
|
|
NM_005356.5(LCK):c.357G>C (p.Ala119=)
|
rs778915733
|
|
NM_005356.5(LCK):c.376C>A (p.Pro126Thr)
|
|
|
NM_005356.5(LCK):c.377+13C>T
|
|
|
NM_005356.5(LCK):c.377+18G>T
|
rs372533013
|
|
NM_005356.5(LCK):c.377+20G>T
|
|
|
NM_005356.5(LCK):c.378-12C>T
|
|
|
NM_005356.5(LCK):c.378-17G>A
|
|
|
NM_005356.5(LCK):c.378-17G>T
|
|
|
NM_005356.5(LCK):c.378-18C>G
|
rs1475347578
|
|
NM_005356.5(LCK):c.378-7T>C
|
|
|
NM_005356.5(LCK):c.391A>G (p.Asn131Asp)
|
|
|
NM_005356.5(LCK):c.395T>G (p.Leu132Arg)
|
|
|
NM_005356.5(LCK):c.415del (p.Arg139fs)
|
rs1640237880
|
|
NM_005356.5(LCK):c.437A>G (p.Asn146Ser)
|
rs1640239109
|
|
NM_005356.5(LCK):c.474C>T (p.Ser158=)
|
rs1569954423
|
|
NM_005356.5(LCK):c.477del (p.Ala160fs)
|
rs2124355238
|
|
NM_005356.5(LCK):c.481+11G>A
|
rs1213589823
|
|
NM_005356.5(LCK):c.481+14G>T
|
|
|
NM_005356.5(LCK):c.481+20G>C
|
|
|
NM_005356.5(LCK):c.481+2T>G
|
|
|
NM_005356.5(LCK):c.482-7C>T
|
rs2124356368
|
|
NM_005356.5(LCK):c.486G>A (p.Ser162=)
|
|
|
NM_005356.5(LCK):c.49A>G (p.Ile17Val)
|
rs1422197069
|
|
NM_005356.5(LCK):c.510C>T (p.Phe170=)
|
rs1396562316
|
|
NM_005356.5(LCK):c.518A>G (p.Asn173Ser)
|
|
|
NM_005356.5(LCK):c.523G>A (p.Gly175Arg)
|
rs1640253963
|
|
NM_005356.5(LCK):c.564C>T (p.Asn188=)
|
rs1640255553
|
|
NM_005356.5(LCK):c.587G>A (p.Arg196Gln)
|
rs1640256111
|
|
NM_005356.5(LCK):c.587G>C (p.Arg196Pro)
|
|
|
NM_005356.5(LCK):c.609T>C (p.His203=)
|
rs2124356863
|
|
NM_005356.5(LCK):c.631+8C>G
|
rs769182927
|
|
NM_005356.5(LCK):c.632-14C>T
|
|
|
NM_005356.5(LCK):c.653C>T (p.Thr218Ile)
|
rs1480132008
|
|
NM_005356.5(LCK):c.654A>T (p.Thr218=)
|
|
|
NM_005356.5(LCK):c.655C>G (p.Arg219Gly)
|
|
|
NM_005356.5(LCK):c.656G>A (p.Arg219Gln)
|
|
|
NM_005356.5(LCK):c.663C>T (p.Ser221=)
|
|
|
NM_005356.5(LCK):c.665G>A (p.Arg222His)
|
rs749760246
|
|
NM_005356.5(LCK):c.695C>T (p.Pro232Leu)
|
rs1640272054
|
|
NM_005356.5(LCK):c.696G>A (p.Pro232=)
|
|
|
NM_005356.5(LCK):c.696G>C (p.Pro232=)
|
|
|
NM_005356.5(LCK):c.725G>A (p.Arg242Lys)
|
|
|
NM_005356.5(LCK):c.734T>A (p.Leu245Gln)
|
|
|
NM_005356.5(LCK):c.751C>T (p.Leu251=)
|
|
|
NM_005356.5(LCK):c.753G>A (p.Leu251=)
|
|
|
NM_005356.5(LCK):c.771G>C (p.Gly257=)
|
|
|
NM_005356.5(LCK):c.784+18G>C
|
rs2124358517
|
|
NM_005356.5(LCK):c.784+7_784+8insGGAGTTTCCCAGGGAGACGCTGAAGCTGGTGGAGCGGCTGGGGGCTGGACAGTTCGGGGAGGTGTGGATGGGTGAGTG
|
rs1557585570
|
|
NM_005356.5(LCK):c.785-7G>A
|
rs779692471
|
|
NM_005356.5(LCK):c.785G>C (p.Gly262Ala)
|
rs2124359006
|
|
NM_005356.5(LCK):c.788A>T (p.Tyr263Phe)
|
|
|
NM_005356.5(LCK):c.795C>T (p.Asn265=)
|
|
|
NM_005356.5(LCK):c.797G>A (p.Gly266Glu)
|
|
|
NM_005356.5(LCK):c.803C>T (p.Thr268Met)
|
rs1557585827
|
|
NM_005356.5(LCK):c.813G>A (p.Ala271=)
|
rs748088071
|
|
NM_005356.5(LCK):c.84C>A (p.Val28=)
|
rs144437329
|
|
NM_005356.5(LCK):c.853T>C (p.Phe285Leu)
|
|
|
NM_005356.5(LCK):c.885G>C (p.Leu295=)
|
|
|
NM_005356.5(LCK):c.88C>T (p.Leu30=)
|
|
|
NM_005356.5(LCK):c.895C>T (p.Arg299Trp)
|
rs1156541922
|
|
NM_005356.5(LCK):c.898C>T (p.Leu300=)
|
|
|
NM_005356.5(LCK):c.933C>A (p.Pro311=)
|
|
|
NM_005356.5(LCK):c.942C>T (p.Ile314=)
|
rs1569958925
|
|
NM_005356.5(LCK):c.964+11C>A
|
|
|
NM_005356.5(LCK):c.964+13C>G
|
|
|
NM_005356.5(LCK):c.965-9T>C
|
rs748428158
|
|
NM_005356.5(LCK):c.984C>T (p.Leu328=)
|
|
|
NM_005356.5(LCK):c.99G>A (p.Lys33=)
|
rs1029313140
|
|
NM_006904.7(PRKDC):c.10007T>C (p.Ile3336Thr)
|
|
|
NM_006904.7(PRKDC):c.10019C>T (p.Ala3340Val)
|
rs2154498225
|
|
NM_006904.7(PRKDC):c.10026C>T (p.Ser3342=)
|
|
|
NM_006904.7(PRKDC):c.10037C>A (p.Ala3346Asp)
|
rs760310638
|
|
NM_006904.7(PRKDC):c.1003A>C (p.Lys335Gln)
|
rs757396169
|
|
NM_006904.7(PRKDC):c.10040G>T (p.Cys3347Phe)
|
rs2087092539
|
|
NM_006904.7(PRKDC):c.10053C>T (p.Ile3351=)
|
|
|
NM_006904.7(PRKDC):c.10111G>A (p.Glu3371Lys)
|
rs2087090983
|
|
NM_006904.7(PRKDC):c.10116+13G>T
|
rs2154498219
|
|
NM_006904.7(PRKDC):c.10116+15A>T
|
|
|
NM_006904.7(PRKDC):c.10116+19T>C
|
rs2154498218
|
|
NM_006904.7(PRKDC):c.10116+8T>G
|
|
|
NM_006904.7(PRKDC):c.10116+9G>A
|
|
|
NM_006904.7(PRKDC):c.10117-17G>A
|
rs2087051873
|
|
NM_006904.7(PRKDC):c.10117-21_10117-16del
|
|
|
NM_006904.7(PRKDC):c.10122C>T (p.Ile3374=)
|
|
|
NM_006904.7(PRKDC):c.10125G>A (p.Ala3375=)
|
|
|
NM_006904.7(PRKDC):c.1013T>A (p.Leu338Gln)
|
rs2154503961
|
|
NM_006904.7(PRKDC):c.10146C>A (p.Phe3382Leu)
|
rs1245646520
|
|
NM_006904.7(PRKDC):c.10146C>G (p.Phe3382Leu)
|
rs1245646520
|
|
NM_006904.7(PRKDC):c.10173G>A (p.Ala3391=)
|
|
|
NM_006904.7(PRKDC):c.10178AGG[2] (p.Glu3395del)
|
rs1563740493
|
|
NM_006904.7(PRKDC):c.1017G>T (p.Gln339His)
|
rs752727983
|
|
NM_006904.7(PRKDC):c.10180G>A (p.Glu3394Lys)
|
rs1362532368
|
|
NM_006904.7(PRKDC):c.10194T>C (p.Pro3398=)
|
|
|
NM_006904.7(PRKDC):c.10195C>T (p.Pro3399Ser)
|
|
|
NM_006904.7(PRKDC):c.10206C>G (p.Ser3402Arg)
|
rs2087048749
|
|
NM_006904.7(PRKDC):c.10227G>C (p.Val3409=)
|
|
|
NM_006904.7(PRKDC):c.10245G>A (p.Thr3415=)
|
|
|
NM_006904.7(PRKDC):c.1024A>G (p.Met342Val)
|
rs1320620697
|
|
NM_006904.7(PRKDC):c.10251A>G (p.Ala3417=)
|
|
|
NM_006904.7(PRKDC):c.10269G>C (p.Gln3423His)
|
rs2154498177
|
|
NM_006904.7(PRKDC):c.10270C>T (p.Leu3424=)
|
|
|
NM_006904.7(PRKDC):c.10275C>T (p.Arg3425=)
|
rs1589703906
|
|
NM_006904.7(PRKDC):c.10281G>A (p.Glu3427=)
|
|
|
NM_006904.7(PRKDC):c.10281G>C (p.Glu3427Asp)
|
rs1024528105
|
|
NM_006904.7(PRKDC):c.10293A>G (p.Ala3431=)
|
rs2087045863
|
|
NM_006904.7(PRKDC):c.10298-18C>T
|
|
|
NM_006904.7(PRKDC):c.10322C>T (p.Ala3441Val)
|
rs757868901
|
|
NM_006904.7(PRKDC):c.10391A>C (p.Lys3464Thr)
|
|
|
NM_006904.7(PRKDC):c.1040G>A (p.Gly347Glu)
|
rs1589807185
|
|
NM_006904.7(PRKDC):c.10411A>C (p.Ile3471Leu)
|
|
|
NM_006904.7(PRKDC):c.10417G>C (p.Glu3473Gln)
|
rs2154498140
|
|
NM_006904.7(PRKDC):c.10421G>A (p.Arg3474Gln)
|
rs761784130
|
|
NM_006904.7(PRKDC):c.10442G>A (p.Ser3481Asn)
|
rs567334706
|
|
NM_006904.7(PRKDC):c.10443C>A (p.Ser3481Arg)
|
|
|
NM_006904.7(PRKDC):c.10450A>T (p.Thr3484Ser)
|
|
|
NM_006904.7(PRKDC):c.10458+14T>C
|
|
|
NM_006904.7(PRKDC):c.10458+15T>C
|
|
|
NM_006904.7(PRKDC):c.10473C>T (p.Pro3491=)
|
|
|
NM_006904.7(PRKDC):c.10486A>G (p.Ile3496Val)
|
rs1206401203
|
|
NM_006904.7(PRKDC):c.10491C>G (p.Ser3497Arg)
|
rs2154497996
|
|
NM_006904.7(PRKDC):c.10502A>T (p.His3501Leu)
|
rs1489820955
|
|
NM_006904.7(PRKDC):c.1053T>C (p.Asn351=)
|
|
|
NM_006904.7(PRKDC):c.10540G>C (p.Val3514Leu)
|
rs1299379434
|
|
NM_006904.7(PRKDC):c.10543C>A (p.Gln3515Lys)
|
|
|
NM_006904.7(PRKDC):c.10568A>G (p.Asp3523Gly)
|
rs2086941232
|
|
NM_006904.7(PRKDC):c.1056G>A (p.Val352=)
|
|
|
NM_006904.7(PRKDC):c.10570A>G (p.Asn3524Asp)
|
|
|
NM_006904.7(PRKDC):c.10575C>T (p.Tyr3525=)
|
|
|
NM_006904.7(PRKDC):c.10577C>T (p.Pro3526Leu)
|
|
|
NM_006904.7(PRKDC):c.10578G>A (p.Pro3526=)
|
rs751871179
|
|
NM_006904.7(PRKDC):c.10578G>T (p.Pro3526=)
|
rs751871179
|
|
NM_006904.7(PRKDC):c.10596C>T (p.Pro3532=)
|
|
|
NM_006904.7(PRKDC):c.10611C>T (p.Ser3537=)
|
rs765260421
|
|
NM_006904.7(PRKDC):c.10612G>A (p.Glu3538Lys)
|
|
|
NM_006904.7(PRKDC):c.10631A>T (p.Asp3544Val)
|
|
|
NM_006904.7(PRKDC):c.10635T>C (p.Thr3545=)
|
|
|
NM_006904.7(PRKDC):c.10637C>G (p.Ser3546Cys)
|
rs2086939960
|
|
NM_006904.7(PRKDC):c.10648A>G (p.Lys3550Glu)
|
|
|
NM_006904.7(PRKDC):c.10662T>G (p.Phe3554Leu)
|
|
|
NM_006904.7(PRKDC):c.10670+16G>A
|
|
|
NM_006904.7(PRKDC):c.10671-20T>C
|
rs2154497785
|
|
NM_006904.7(PRKDC):c.10701G>A (p.Val3567=)
|
|
|
NM_006904.7(PRKDC):c.10702A>T (p.Ile3568Phe)
|
|
|
NM_006904.7(PRKDC):c.10709A>G (p.Asp3570Gly)
|
|
|
NM_006904.7(PRKDC):c.10715T>C (p.Ile3572Thr)
|
|
|
NM_006904.7(PRKDC):c.10721C>T (p.Ala3574Val)
|
rs587777686
|
|
NM_006904.7(PRKDC):c.10722C>G (p.Ala3574=)
|
|
|
NM_006904.7(PRKDC):c.10736C>G (p.Ser3579Cys)
|
|
|
NM_006904.7(PRKDC):c.10752C>T (p.Leu3584=)
|
|
|
NM_006904.7(PRKDC):c.10758+14G>A
|
|
|
NM_006904.7(PRKDC):c.10759-10C>T
|
|
|
NM_006904.7(PRKDC):c.10759-11del
|
|
|
NM_006904.7(PRKDC):c.10759-11dup
|
rs34211555
|
|
NM_006904.7(PRKDC):c.10759-17T>C
|
|
|
NM_006904.7(PRKDC):c.10759-8C>G
|
rs1589696399
|
|
NM_006904.7(PRKDC):c.10759-9C>T
|
rs1298686465
|
|
NM_006904.7(PRKDC):c.10786C>T (p.Leu3596=)
|
rs1589696373
|
|
NM_006904.7(PRKDC):c.10832A>G (p.Glu3611Gly)
|
rs2086838963
|
|
NM_006904.7(PRKDC):c.10842T>C (p.Tyr3614=)
|
rs925435577
|
|
NM_006904.7(PRKDC):c.10863G>A (p.Lys3621=)
|
|
|
NM_006904.7(PRKDC):c.10864G>C (p.Ala3622Pro)
|
rs545479220
|
|
NM_006904.7(PRKDC):c.10867C>T (p.Pro3623Ser)
|
rs1384543244
|
|
NM_006904.7(PRKDC):c.10873C>G (p.Leu3625Val)
|
|
|
NM_006904.7(PRKDC):c.10878G>A (p.Gly3626=)
|
|
|
NM_006904.7(PRKDC):c.1087A>C (p.Ile363Leu)
|
|
|
NM_006904.7(PRKDC):c.1089C>T (p.Ile363=)
|
|
|
NM_006904.7(PRKDC):c.108C>T (p.Arg36=)
|
|
|
NM_006904.7(PRKDC):c.10902+7A>G
|
|
|
NM_006904.7(PRKDC):c.10903-15T>C
|
|
|
NM_006904.7(PRKDC):c.10903-20T>G
|
|
|
NM_006904.7(PRKDC):c.10904C>G (p.Thr3635Ser)
|
rs189885909
|
|
NM_006904.7(PRKDC):c.10926A>G (p.Lys3642=)
|
rs1422293667
|
|
NM_006904.7(PRKDC):c.10936A>C (p.Lys3646Gln)
|
rs2154497624
|
|
NM_006904.7(PRKDC):c.1097A>T (p.Tyr366Phe)
|
|
|
NM_006904.7(PRKDC):c.11013C>T (p.Asn3671=)
|
|
|
NM_006904.7(PRKDC):c.11027C>A (p.Pro3676His)
|
rs753501125
|
|
NM_006904.7(PRKDC):c.11028C>A (p.Pro3676=)
|
|
|
NM_006904.7(PRKDC):c.11028C>G (p.Pro3676=)
|
|
|
NM_006904.7(PRKDC):c.1103T>C (p.Leu368Pro)
|
rs2090407081
|
|
NM_006904.7(PRKDC):c.11042A>G (p.Lys3681Arg)
|
|
|
NM_006904.7(PRKDC):c.11046A>C (p.Glu3682Asp)
|
|
|
NM_006904.7(PRKDC):c.11054C>A (p.Pro3685His)
|
rs2086770528
|
|
NM_006904.7(PRKDC):c.11064C>T (p.Ser3688=)
|
|
|
NM_006904.7(PRKDC):c.11083C>T (p.Leu3695=)
|
|
|
NM_006904.7(PRKDC):c.11089A>G (p.Asn3697Asp)
|
|
|
NM_006904.7(PRKDC):c.1109C>T (p.Ala370Val)
|
|
|
NM_006904.7(PRKDC):c.11100G>A (p.Glu3700=)
|
rs2154497614
|
|
NM_006904.7(PRKDC):c.11106C>G (p.Pro3702=)
|
rs8178236
|
|
NM_006904.7(PRKDC):c.11107+15A>G
|
|
|
NM_006904.7(PRKDC):c.11107+16G>C
|
rs2086768834
|
|
NM_006904.7(PRKDC):c.11107G>T (p.Gly3703Cys)
|
|
|
NM_006904.7(PRKDC):c.1110A>T (p.Ala370=)
|
rs370275761
|
|
NM_006904.7(PRKDC):c.11116G>C (p.Asp3706His)
|
rs2154497574
|
|
NM_006904.7(PRKDC):c.11122A>G (p.Arg3708Gly)
|
rs2154497573
|
|
NM_006904.7(PRKDC):c.11123G>A (p.Arg3708Lys)
|
|
|
NM_006904.7(PRKDC):c.11124G>A (p.Arg3708=)
|
|
|
NM_006904.7(PRKDC):c.1113+12T>G
|
|
|
NM_006904.7(PRKDC):c.1113+14del
|
rs751700346
|
|
NM_006904.7(PRKDC):c.1113+18A>C
|
|
|
NM_006904.7(PRKDC):c.1113+18A>G
|
|
|
NM_006904.7(PRKDC):c.1113+18dup
|
|
|
NM_006904.7(PRKDC):c.1113+7C>T
|
|
|
NM_006904.7(PRKDC):c.11137C>T (p.Pro3713Ser)
|
|
|
NM_006904.7(PRKDC):c.1114-11C>G
|
|
|
NM_006904.7(PRKDC):c.1114-11C>T
|
rs2090355427
|
|
NM_006904.7(PRKDC):c.1114-17T>G
|
|
|
NM_006904.7(PRKDC):c.11149G>A (p.Val3717Met)
|
|
|
NM_006904.7(PRKDC):c.11149G>C (p.Val3717Leu)
|
rs747860848
|
|
NM_006904.7(PRKDC):c.11159C>T (p.Ala3720Val)
|
rs959711715
|
|
NM_006904.7(PRKDC):c.11175+11G>C
|
|
|
NM_006904.7(PRKDC):c.11175+14T>G
|
|
|
NM_006904.7(PRKDC):c.11175+7G>A
|
|
|
NM_006904.7(PRKDC):c.11176-16A>G
|
|
|
NM_006904.7(PRKDC):c.11176-7T>G
|
|
|
NM_006904.7(PRKDC):c.11190G>A (p.Ala3730=)
|
|
|
NM_006904.7(PRKDC):c.11198G>A (p.Arg3733Gln)
|
|
|
NM_006904.7(PRKDC):c.11221C>T (p.Arg3741Cys)
|
|
|
NM_006904.7(PRKDC):c.11222G>T (p.Arg3741Leu)
|
rs759518580
|
|
NM_006904.7(PRKDC):c.11233G>A (p.Glu3745Lys)
|
|
|
NM_006904.7(PRKDC):c.1123G>C (p.Val375Leu)
|
rs763664375
|
|
NM_006904.7(PRKDC):c.11244C>T (p.His3748=)
|
|
|
NM_006904.7(PRKDC):c.11246C>A (p.Pro3749His)
|
rs776436426
|
|
NM_006904.7(PRKDC):c.11246C>G (p.Pro3749Arg)
|
rs776436426
|
|
NM_006904.7(PRKDC):c.11265C>T (p.Gly3755=)
|
|
|
NM_006904.7(PRKDC):c.11274G>A (p.Leu3758=)
|
|
|
NM_006904.7(PRKDC):c.11284C>G (p.Gln3762Glu)
|
|
|
NM_006904.7(PRKDC):c.11289C>G (p.Arg3763=)
|
rs373633173
|
|
NM_006904.7(PRKDC):c.11289C>T (p.Arg3763=)
|
rs373633173
|
|
NM_006904.7(PRKDC):c.11310C>T (p.Val3770=)
|
|
|
NM_006904.7(PRKDC):c.11315A>G (p.Asn3772Ser)
|
|
|
NM_006904.7(PRKDC):c.11334C>T (p.Asp3778=)
|
|
|
NM_006904.7(PRKDC):c.11338G>A (p.Ala3780Thr)
|
|
|
NM_006904.7(PRKDC):c.11345G>A (p.Ser3782Asn)
|
|
|
NM_006904.7(PRKDC):c.11352G>A (p.Arg3784=)
|
|
|
NM_006904.7(PRKDC):c.11366G>A (p.Arg3789Lys)
|
rs1002822430
|
|
NM_006904.7(PRKDC):c.11370C>G (p.Thr3790=)
|
|
|
NM_006904.7(PRKDC):c.11370C>T (p.Thr3790=)
|
|
|
NM_006904.7(PRKDC):c.11376C>T (p.Ser3792=)
|
rs1210023685
|
|
NM_006904.7(PRKDC):c.11396+16C>T
|
|
|
NM_006904.7(PRKDC):c.11397G>A (p.Arg3799=)
|
rs2154497507
|
|
NM_006904.7(PRKDC):c.1145A>C (p.Asp382Ala)
|
|
|
NM_006904.7(PRKDC):c.1146C>T (p.Asp382=)
|
|
|
NM_006904.7(PRKDC):c.11478G>A (p.Ala3826=)
|
rs2154497504
|
|
NM_006904.7(PRKDC):c.11489+16C>T
|
|
|
NM_006904.7(PRKDC):c.11489+9G>A
|
|
|
NM_006904.7(PRKDC):c.11490-13del
|
|
|
NM_006904.7(PRKDC):c.11490-1G>A
|
rs1554623754
|
|
NM_006904.7(PRKDC):c.11508G>A (p.Pro3836=)
|
rs375417206
|
|
NM_006904.7(PRKDC):c.11512G>C (p.Glu3838Gln)
|
rs1589689481
|
|
NM_006904.7(PRKDC):c.11515T>C (p.Tyr3839His)
|
|
|
NM_006904.7(PRKDC):c.11549A>T (p.His3850Leu)
|
rs751427948
|
|
NM_006904.7(PRKDC):c.11556T>A (p.Val3852=)
|
|
|
NM_006904.7(PRKDC):c.11556T>C (p.Val3852=)
|
rs2154497368
|
|
NM_006904.7(PRKDC):c.11579+20T>G
|
|
|
NM_006904.7(PRKDC):c.11582G>A (p.Gly3861Asp)
|
rs554733258
|
|
NM_006904.7(PRKDC):c.11607G>A (p.Thr3869=)
|
|
|
NM_006904.7(PRKDC):c.1161G>A (p.Glu387=)
|
|
|
NM_006904.7(PRKDC):c.11635C>A (p.Pro3879Thr)
|
rs2154497358
|
|
NM_006904.7(PRKDC):c.11638G>T (p.Ala3880Ser)
|
|
|
NM_006904.7(PRKDC):c.11649A>G (p.Leu3883=)
|
|
|
NM_006904.7(PRKDC):c.11650A>C (p.Lys3884Gln)
|
rs2154497357
|
|
NM_006904.7(PRKDC):c.11651+16C>T
|
rs1208206365
|
|
NM_006904.7(PRKDC):c.11651+19T>C
|
|
|
NM_006904.7(PRKDC):c.11651+8C>T
|
|
|
NM_006904.7(PRKDC):c.11651+9C>T
|
rs2086650242
|
|
NM_006904.7(PRKDC):c.11652-5T>C
|
|
|
NM_006904.7(PRKDC):c.11652-9_11652-8del
|
|
|
NM_006904.7(PRKDC):c.11661C>G (p.Phe3887Leu)
|
|
|
NM_006904.7(PRKDC):c.11667G>A (p.Arg3889=)
|
rs2154497349
|
|
NM_006904.7(PRKDC):c.11670G>C (p.Met3890Ile)
|
|
|
NM_006904.7(PRKDC):c.11685G>A (p.Glu3895=)
|
rs2154497347
|
|
NM_006904.7(PRKDC):c.11688T>C (p.Ala3896=)
|
|
|
NM_006904.7(PRKDC):c.11695G>A (p.Ala3899Thr)
|
rs2154497346
|
|
NM_006904.7(PRKDC):c.11712C>T (p.Phe3904=)
|
|
|
NM_006904.7(PRKDC):c.11713G>T (p.Ala3905Ser)
|
rs762000221
|
|
NM_006904.7(PRKDC):c.1171C>T (p.Arg391Cys)
|
rs1458221354
|
|
NM_006904.7(PRKDC):c.11742C>T (p.Ser3914=)
|
|
|
NM_006904.7(PRKDC):c.11754C>G (p.Leu3918=)
|
rs774251901
|
|
NM_006904.7(PRKDC):c.11763A>G (p.Gly3921=)
|
rs922257794
|
|
NM_006904.7(PRKDC):c.1176C>T (p.Cys392=)
|
|
|
NM_006904.7(PRKDC):c.11785A>T (p.Met3929Leu)
|
rs2154497343
|
|
NM_006904.7(PRKDC):c.11795T>C (p.Met3932Thr)
|
|
|
NM_006904.7(PRKDC):c.11850A>G (p.Thr3950=)
|
rs749085383
|
|
NM_006904.7(PRKDC):c.11854-13T>C
|
|
|
NM_006904.7(PRKDC):c.11854-8T>C
|
|
|
NM_006904.7(PRKDC):c.11865C>T (p.Val3955=)
|
rs761303017
|
|
NM_006904.7(PRKDC):c.11877G>A (p.Met3959Ile)
|
rs2154497307
|
|
NM_006904.7(PRKDC):c.1187T>C (p.Phe396Ser)
|
rs2090353585
|
|
NM_006904.7(PRKDC):c.11881T>C (p.Phe3961Leu)
|
rs2154497305
|
|
NM_006904.7(PRKDC):c.118C>G (p.Gln40Glu)
|
|
|
NM_006904.7(PRKDC):c.11910G>C (p.Leu3970=)
|
|
|
NM_006904.7(PRKDC):c.11919A>G (p.Pro3973=)
|
rs768299434
|
|
NM_006904.7(PRKDC):c.1191C>T (p.Leu397=)
|
|
|
NM_006904.7(PRKDC):c.11935C>G (p.Leu3979Val)
|
rs59303802
|
|
NM_006904.7(PRKDC):c.11956C>T (p.His3986Tyr)
|
rs2086630732
|
|
NM_006904.7(PRKDC):c.11959G>A (p.Ala3987Thr)
|
|
|
NM_006904.7(PRKDC):c.11998A>G (p.Asn4000Asp)
|
rs1013480060
|
|
NM_006904.7(PRKDC):c.11C>T (p.Ser4Phe)
|
rs1406641105
|
|
NM_006904.7(PRKDC):c.12000C>T (p.Asn4000=)
|
|
|
NM_006904.7(PRKDC):c.12018C>G (p.Val4006=)
|
rs778150717
|
|
NM_006904.7(PRKDC):c.12024G>A (p.Glu4008=)
|
rs377390560
|
|
NM_006904.7(PRKDC):c.12026C>A (p.Pro4009His)
|
rs1589688275
|
|
NM_006904.7(PRKDC):c.12039G>C (p.Trp4013Cys)
|
|
|
NM_006904.7(PRKDC):c.12042+3A>G
|
rs1589688265
|
|
NM_006904.7(PRKDC):c.12042+7T>C
|
rs1164204177
|
|
NM_006904.7(PRKDC):c.12049G>C (p.Glu4017Gln)
|
rs375321876
|
|
NM_006904.7(PRKDC):c.1204A>G (p.Thr402Ala)
|
|
|
NM_006904.7(PRKDC):c.12053A>C (p.Gln4018Pro)
|
rs2154497272
|
|
NM_006904.7(PRKDC):c.12062T>G (p.Leu4021Arg)
|
|
|
NM_006904.7(PRKDC):c.12065A>G (p.Lys4022Arg)
|
|
|
NM_006904.7(PRKDC):c.12068A>C (p.Lys4023Thr)
|
|
|
NM_006904.7(PRKDC):c.12070G>A (p.Gly4024Arg)
|
|
|
NM_006904.7(PRKDC):c.12073G>A (p.Gly4025Arg)
|
rs886968991
|
|
NM_006904.7(PRKDC):c.12074G>A (p.Gly4025Glu)
|
|
|
NM_006904.7(PRKDC):c.12078A>G (p.Ser4026=)
|
|
|
NM_006904.7(PRKDC):c.12095A>T (p.Asn4032Ile)
|
rs1395144570
|
|
NM_006904.7(PRKDC):c.12106A>C (p.Lys4036Gln)
|
rs2086619286
|
|
NM_006904.7(PRKDC):c.12111T>C (p.Asn4037=)
|
|
|
NM_006904.7(PRKDC):c.12113G>T (p.Trp4038Leu)
|
|
|
NM_006904.7(PRKDC):c.12114G>T (p.Trp4038Cys)
|
rs752484736
|
|
NM_006904.7(PRKDC):c.12117C>T (p.Tyr4039=)
|
|
|
NM_006904.7(PRKDC):c.1213G>C (p.Asp405His)
|
rs2090352842
|
|
NM_006904.7(PRKDC):c.12142A>G (p.Lys4048Glu)
|
rs773752536
|
|
NM_006904.7(PRKDC):c.12150G>A (p.Lys4050=)
|
|
|
NM_006904.7(PRKDC):c.12156A>C (p.Ala4052=)
|
rs56395046
|
|
NM_006904.7(PRKDC):c.12156A>G (p.Ala4052=)
|
rs56395046
|
|
NM_006904.7(PRKDC):c.12175A>G (p.Ile4059Val)
|
rs2086617397
|
|
NM_006904.7(PRKDC):c.12182+19G>A
|
rs1193061001
|
|
NM_006904.7(PRKDC):c.12183-13G>T
|
|
|
NM_006904.7(PRKDC):c.12183-5del
|
rs545199062
|
|
NM_006904.7(PRKDC):c.12183-5dup
|
|
|
NM_006904.7(PRKDC):c.12184G>A (p.Asp4062Asn)
|
rs2154497178
|
|
NM_006904.7(PRKDC):c.12193C>G (p.Leu4065Val)
|
rs777033203
|
|
NM_006904.7(PRKDC):c.12219C>T (p.Ala4073=)
|
|
|
NM_006904.7(PRKDC):c.1221T>A (p.Val407=)
|
|
|
NM_006904.7(PRKDC):c.12221T>G (p.Phe4074Cys)
|
|
|
NM_006904.7(PRKDC):c.12230A>G (p.Tyr4077Cys)
|
|
|
NM_006904.7(PRKDC):c.12279A>C (p.Glu4093Asp)
|
rs2154497173
|
|
NM_006904.7(PRKDC):c.12280C>T (p.Pro4094Ser)
|
rs748067036
|
|
NM_006904.7(PRKDC):c.12283G>C (p.Glu4095Gln)
|
rs2154497172
|
|
NM_006904.7(PRKDC):c.122A>G (p.Glu41Gly)
|
|
|
NM_006904.7(PRKDC):c.12321G>C (p.Leu4107=)
|
|
|
NM_006904.7(PRKDC):c.12365A>C (p.Glu4122Ala)
|
rs2154497169
|
|
NM_006904.7(PRKDC):c.12382A>C (p.Met4128Leu)
|
|
|
NM_006904.7(PRKDC):c.1240C>T (p.Leu414Phe)
|
|
|
NM_006904.7(PRKDC):c.1244A>G (p.Gln415Arg)
|
|
|
NM_006904.7(PRKDC):c.124T>G (p.Cys42Gly)
|
rs2154504868
|
|
NM_006904.7(PRKDC):c.1251T>C (p.Val417=)
|
|
|
NM_006904.7(PRKDC):c.1252G>A (p.Ala418Thr)
|
rs2090352078
|
|
NM_006904.7(PRKDC):c.1264C>T (p.Leu422=)
|
|
|
NM_006904.7(PRKDC):c.1270C>T (p.Leu424Phe)
|
|
|
NM_006904.7(PRKDC):c.1274A>G (p.Asp425Gly)
|
|
|
NM_006904.7(PRKDC):c.1278+16T>C
|
|
|
NM_006904.7(PRKDC):c.1278+19G>A
|
|
|
NM_006904.7(PRKDC):c.1278+8A>G
|
|
|
NM_006904.7(PRKDC):c.1279-8T>C
|
|
|
NM_006904.7(PRKDC):c.1298C>T (p.Pro433Leu)
|
rs2090342249
|
|
NM_006904.7(PRKDC):c.12C>T (p.Ser4=)
|
|
|
NM_006904.7(PRKDC):c.1302T>C (p.Val434=)
|
|
|
NM_006904.7(PRKDC):c.1332C>A (p.Asp444Glu)
|
rs1277369459
|
|
NM_006904.7(PRKDC):c.1332C>T (p.Asp444=)
|
|
|
NM_006904.7(PRKDC):c.1343A>G (p.Gln448Arg)
|
|
|
NM_006904.7(PRKDC):c.1344G>C (p.Gln448His)
|
|
|
NM_006904.7(PRKDC):c.1348A>G (p.Ser450Gly)
|
|
|
NM_006904.7(PRKDC):c.1388A>G (p.Lys463Arg)
|
|
|
NM_006904.7(PRKDC):c.1393T>A (p.Phe465Ile)
|
|
|
NM_006904.7(PRKDC):c.140G>T (p.Ser47Ile)
|
|
|
NM_006904.7(PRKDC):c.1416G>T (p.Gly472=)
|
|
|
NM_006904.7(PRKDC):c.1424T>C (p.Leu475Pro)
|
rs2154503775
|
|
NM_006904.7(PRKDC):c.1447+10C>T
|
|
|
NM_006904.7(PRKDC):c.1447+11_1447+12insTTTATTGTATTTATGAGT
|
|
|
NM_006904.7(PRKDC):c.1447+16A>T
|
rs2154503773
|
|
NM_006904.7(PRKDC):c.1447+17T>C
|
|
|
NM_006904.7(PRKDC):c.1448-12T>C
|
|
|
NM_006904.7(PRKDC):c.1448-15dup
|
rs559118181
|
|
NM_006904.7(PRKDC):c.1448-17T>C
|
|
|
NM_006904.7(PRKDC):c.1448-4dup
|
|
|
NM_006904.7(PRKDC):c.1448-5_1448-4del
|
|
|
NM_006904.7(PRKDC):c.1451A>G (p.His484Arg)
|
|
|
NM_006904.7(PRKDC):c.1464C>T (p.Ile488=)
|
|
|
NM_006904.7(PRKDC):c.147G>C (p.Ala49=)
|
|
|
NM_006904.7(PRKDC):c.1497+18T>C
|
|
|
NM_006904.7(PRKDC):c.1498-16_1498-15insCGA
|
rs1222452596
|
|
NM_006904.7(PRKDC):c.1498-18T>C
|
|
|
NM_006904.7(PRKDC):c.1498-19A>G
|
|
|
NM_006904.7(PRKDC):c.1512A>G (p.Glu504=)
|
|
|
NM_006904.7(PRKDC):c.152T>C (p.Leu51Pro)
|
rs1468283360
|
|
NM_006904.7(PRKDC):c.1537G>A (p.Glu513Lys)
|
rs2090304785
|
|
NM_006904.7(PRKDC):c.153G>A (p.Leu51=)
|
|
|
NM_006904.7(PRKDC):c.154+14C>G
|
|
|
NM_006904.7(PRKDC):c.154+14C>T
|
rs771842578
|
|
NM_006904.7(PRKDC):c.154+8C>G
|
|
|
NM_006904.7(PRKDC):c.154+8C>T
|
|
|
NM_006904.7(PRKDC):c.1542C>G (p.Val514=)
|
rs2154503706
|
|
NM_006904.7(PRKDC):c.155-13dup
|
rs779456543
|
|
NM_006904.7(PRKDC):c.155-14A>G
|
|
|
NM_006904.7(PRKDC):c.155-4A>G
|
rs2090722927
|
|
NM_006904.7(PRKDC):c.1561G>C (p.Val521Leu)
|
|
|
NM_006904.7(PRKDC):c.156A>G (p.Ala52=)
|
|
|
NM_006904.7(PRKDC):c.1582G>C (p.Val528Leu)
|
|
|
NM_006904.7(PRKDC):c.1582G>T (p.Val528Leu)
|
|
|
NM_006904.7(PRKDC):c.1590C>T (p.Leu530=)
|
rs753715592
|
|
NM_006904.7(PRKDC):c.1623+11C>T
|
|
|
NM_006904.7(PRKDC):c.1623+14T>C
|
|
|
NM_006904.7(PRKDC):c.1623+20G>A
|
|
|
NM_006904.7(PRKDC):c.1623+5C>T
|
|
|
NM_006904.7(PRKDC):c.1623+5_1623+6inv
|
|
|
NM_006904.7(PRKDC):c.1624-13T>C
|
|
|
NM_006904.7(PRKDC):c.1624-3A>C
|
rs2090286708
|
|
NM_006904.7(PRKDC):c.1624-7_1624-4del
|
|
|
NM_006904.7(PRKDC):c.163A>T (p.Thr55Ser)
|
rs2154504734
|
|
NM_006904.7(PRKDC):c.1646C>G (p.Ala549Gly)
|
|
|
NM_006904.7(PRKDC):c.1657G>A (p.Val553Met)
|
rs2090285953
|
|
NM_006904.7(PRKDC):c.1670G>T (p.Ser557Ile)
|
|
|
NM_006904.7(PRKDC):c.1696G>A (p.Asp566Asn)
|
|
|
NM_006904.7(PRKDC):c.16G>A (p.Ala6Thr)
|
rs8177999
|
|
NM_006904.7(PRKDC):c.16G>T (p.Ala6Ser)
|
rs8177999
|
|
NM_006904.7(PRKDC):c.1714G>A (p.Val572Ile)
|
rs1184535587
|
|
NM_006904.7(PRKDC):c.1746A>G (p.Thr582=)
|
|
|
NM_006904.7(PRKDC):c.1760C>G (p.Thr587Ser)
|
rs2090283361
|
|
NM_006904.7(PRKDC):c.1762G>A (p.Val588Ile)
|
rs1374317607
|
|
NM_006904.7(PRKDC):c.1776+13T>C
|
|
|
NM_006904.7(PRKDC):c.1776+13_1776+14insGAAATTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC
|
|
|
NM_006904.7(PRKDC):c.1777-13A>G
|
rs1416939898
|
|
NM_006904.7(PRKDC):c.1777-19G>C
|
rs2154503561
|
|
NM_006904.7(PRKDC):c.1777-710dup
|
rs546905091
|
|
NM_006904.7(PRKDC):c.1777-8T>C
|
|
|
NM_006904.7(PRKDC):c.1779T>A (p.Asn593Lys)
|
rs2154503560
|
|
NM_006904.7(PRKDC):c.179C>A (p.Ser60Tyr)
|
rs1589820799
|
|
NM_006904.7(PRKDC):c.17C>T (p.Ala6Val)
|
rs754453280
|
|
NM_006904.7(PRKDC):c.1827G>A (p.Ala609=)
|
rs538352579
|
|
NM_006904.7(PRKDC):c.1861T>C (p.Ser621Pro)
|
rs1254994792
|
|
NM_006904.7(PRKDC):c.1863G>A (p.Ser621=)
|
|
|
NM_006904.7(PRKDC):c.1866T>C (p.Ala622=)
|
|
|
NM_006904.7(PRKDC):c.186T>G (p.Asp62Glu)
|
rs2154504732
|
|
NM_006904.7(PRKDC):c.1876C>T (p.Leu626=)
|
|
|
NM_006904.7(PRKDC):c.1889G>T (p.Cys630Phe)
|
|
|
NM_006904.7(PRKDC):c.1892+17T>C
|
|
|
NM_006904.7(PRKDC):c.1893-10_1893-8del
|
|
|
NM_006904.7(PRKDC):c.1893-17C>A
|
|
|
NM_006904.7(PRKDC):c.1896G>A (p.Glu632=)
|
rs774814292
|
|
NM_006904.7(PRKDC):c.189C>A (p.Phe63Leu)
|
rs372416216
|
|
NM_006904.7(PRKDC):c.18C>A (p.Ala6=)
|
|
|
NM_006904.7(PRKDC):c.1950A>G (p.Ser650=)
|
|
|
NM_006904.7(PRKDC):c.1952A>G (p.Tyr651Cys)
|
|
|
NM_006904.7(PRKDC):c.1968A>C (p.Gln656His)
|
rs375910031
|
|
NM_006904.7(PRKDC):c.1968A>G (p.Gln656=)
|
rs375910031
|
|
NM_006904.7(PRKDC):c.199G>C (p.Val67Leu)
|
|
|
NM_006904.7(PRKDC):c.2003A>G (p.Lys668Arg)
|
|
|
NM_006904.7(PRKDC):c.2018C>T (p.Thr673Ile)
|
|
|
NM_006904.7(PRKDC):c.2022A>G (p.Val674=)
|
|
|
NM_006904.7(PRKDC):c.2030C>T (p.Ala677Val)
|
|
|
NM_006904.7(PRKDC):c.2052+10_2052+13del
|
|
|
NM_006904.7(PRKDC):c.2052+11C>G
|
rs769287265
|
|
NM_006904.7(PRKDC):c.2052+18del
|
|
|
NM_006904.7(PRKDC):c.2053-15T>C
|
|
|
NM_006904.7(PRKDC):c.2055A>G (p.Gly685=)
|
|
|
NM_006904.7(PRKDC):c.2081C>G (p.Ser694Cys)
|
|
|
NM_006904.7(PRKDC):c.2092C>G (p.Pro698Ala)
|
|
|
NM_006904.7(PRKDC):c.2094A>G (p.Pro698=)
|
|
|
NM_006904.7(PRKDC):c.2100G>T (p.Lys700Asn)
|
rs2090206955
|
|
NM_006904.7(PRKDC):c.2118A>G (p.Leu706=)
|
|
|
NM_006904.7(PRKDC):c.2140-13_2140-11del
|
rs370706897
|
|
NM_006904.7(PRKDC):c.2140-16C>G
|
|
|
NM_006904.7(PRKDC):c.2160G>A (p.Gln720=)
|
|
|
NM_006904.7(PRKDC):c.2186G>C (p.Cys729Ser)
|
|
|
NM_006904.7(PRKDC):c.2199T>A (p.Leu733=)
|
|
|
NM_006904.7(PRKDC):c.21T>G (p.Gly7=)
|
|
|
NM_006904.7(PRKDC):c.2210C>A (p.Pro737Gln)
|
rs2154503436
|
|
NM_006904.7(PRKDC):c.221A>G (p.Asn74Ser)
|
|
|
NM_006904.7(PRKDC):c.2229C>A (p.Leu743=)
|
rs750314401
|
|
NM_006904.7(PRKDC):c.2229C>T (p.Leu743=)
|
|
|
NM_006904.7(PRKDC):c.222C>T (p.Asn74=)
|
rs1180499411
|
|
NM_006904.7(PRKDC):c.2230G>C (p.Asp744His)
|
rs35938758
|
|
NM_006904.7(PRKDC):c.2232T>A (p.Asp744Glu)
|
|
|
NM_006904.7(PRKDC):c.2245G>A (p.Val749Ile)
|
rs771482106
|
|
NM_006904.7(PRKDC):c.2245G>C (p.Val749Leu)
|
|
|
NM_006904.7(PRKDC):c.2248C>A (p.Pro750Thr)
|
rs2090177848
|
|
NM_006904.7(PRKDC):c.2251G>A (p.Ala751Thr)
|
rs774703460
|
|
NM_006904.7(PRKDC):c.2259+12C>T
|
|
|
NM_006904.7(PRKDC):c.2259+20G>C
|
|
|
NM_006904.7(PRKDC):c.2259+7G>A
|
rs368585473
|
|
NM_006904.7(PRKDC):c.2259+7G>T
|
rs368585473
|
|
NM_006904.7(PRKDC):c.2264C>T (p.Ala755Val)
|
rs2090171409
|
|
NM_006904.7(PRKDC):c.2270A>G (p.Lys757Arg)
|
rs747089655
|
|
NM_006904.7(PRKDC):c.2288C>G (p.Thr763Ser)
|
rs757271960
|
|
NM_006904.7(PRKDC):c.2291C>G (p.Pro764Arg)
|
rs374576070
|
|
NM_006904.7(PRKDC):c.2301A>G (p.Glu767=)
|
|
|
NM_006904.7(PRKDC):c.231+10C>T
|
|
|
NM_006904.7(PRKDC):c.231+12A>G
|
|
|
NM_006904.7(PRKDC):c.231+20T>A
|
|
|
NM_006904.7(PRKDC):c.2310G>C (p.Leu770=)
|
|
|
NM_006904.7(PRKDC):c.2319A>G (p.Leu773=)
|
|
|
NM_006904.7(PRKDC):c.232-11T>G
|
|
|
NM_006904.7(PRKDC):c.232-12C>T
|
|
|
NM_006904.7(PRKDC):c.232-20A>G
|
|
|
NM_006904.7(PRKDC):c.232-22_232-20del
|
|
|
NM_006904.7(PRKDC):c.232-8C>T
|
|
|
NM_006904.7(PRKDC):c.2342A>G (p.Asp781Gly)
|
|
|
NM_006904.7(PRKDC):c.234T>C (p.Phe78=)
|
rs746672297
|
|
NM_006904.7(PRKDC):c.2367C>T (p.Tyr789=)
|
rs2090170044
|
|
NM_006904.7(PRKDC):c.2371G>T (p.Asp791Tyr)
|
rs2154503405
|
|
NM_006904.7(PRKDC):c.2377C>G (p.Leu793Val)
|
rs1273568872
|
|
NM_006904.7(PRKDC):c.2386C>G (p.Leu796Val)
|
|
|
NM_006904.7(PRKDC):c.2419+15A>C
|
|
|
NM_006904.7(PRKDC):c.2420-16C>T
|
|
|
NM_006904.7(PRKDC):c.2421T>G (p.Asp807Glu)
|
rs564617559
|
|
NM_006904.7(PRKDC):c.2458C>T (p.Arg820Trp)
|
rs1019925698
|
|
NM_006904.7(PRKDC):c.2466C>T (p.Ala822=)
|
rs1288218976
|
|
NM_006904.7(PRKDC):c.246A>G (p.Arg82=)
|
|
|
NM_006904.7(PRKDC):c.2472A>G (p.Lys824=)
|
|
|
NM_006904.7(PRKDC):c.24G>A (p.Val8=)
|
|
|
NM_006904.7(PRKDC):c.2500C>A (p.Leu834Met)
|
rs2090019982
|
|
NM_006904.7(PRKDC):c.2502G>A (p.Leu834=)
|
rs1417274751
|
|
NM_006904.7(PRKDC):c.2521T>G (p.Ser841Ala)
|
rs566630146
|
|
NM_006904.7(PRKDC):c.2526+11C>G
|
|
|
NM_006904.7(PRKDC):c.2526+8G>A
|
rs2154503004
|
|
NM_006904.7(PRKDC):c.2527-20A>G
|
rs2154502883
|
|
NM_006904.7(PRKDC):c.2530G>A (p.Glu844Lys)
|
rs1279623453
|
|
NM_006904.7(PRKDC):c.2533G>A (p.Ala845Thr)
|
rs2154502880
|
|
NM_006904.7(PRKDC):c.2551A>C (p.Ile851Leu)
|
rs1563801578
|
|
NM_006904.7(PRKDC):c.2551A>G (p.Ile851Val)
|
|
|
NM_006904.7(PRKDC):c.2560A>G (p.Arg854Gly)
|
|
|
NM_006904.7(PRKDC):c.2584C>T (p.Leu862=)
|
rs1477652103
|
|
NM_006904.7(PRKDC):c.2595A>G (p.Gln865=)
|
|
|
NM_006904.7(PRKDC):c.2609T>G (p.Leu870Arg)
|
rs2154502876
|
|
NM_006904.7(PRKDC):c.2618-20dup
|
|
|
NM_006904.7(PRKDC):c.2619C>T (p.Val873=)
|
|
|
NM_006904.7(PRKDC):c.2622G>A (p.Thr874=)
|
|
|
NM_006904.7(PRKDC):c.2638A>T (p.Met880Leu)
|
|
|
NM_006904.7(PRKDC):c.2648A>G (p.Tyr883Cys)
|
|
|
NM_006904.7(PRKDC):c.265T>C (p.Leu89=)
|
rs759505708
|
|
NM_006904.7(PRKDC):c.2670G>A (p.Lys890=)
|
rs2089949698
|
|
NM_006904.7(PRKDC):c.2671C>T (p.Arg891Trp)
|
|
|
NM_006904.7(PRKDC):c.2690C>G (p.Pro897Arg)
|
rs894027943
|
|
NM_006904.7(PRKDC):c.2694T>C (p.Phe898=)
|
rs768585182
|
|
NM_006904.7(PRKDC):c.2696G>C (p.Arg899Thr)
|
rs1355266531
|
|
NM_006904.7(PRKDC):c.2706A>G (p.Lys902=)
|
|
|
NM_006904.7(PRKDC):c.2724T>C (p.Asp908=)
|
|
|
NM_006904.7(PRKDC):c.2735C>T (p.Pro912Leu)
|
|
|
NM_006904.7(PRKDC):c.2744C>T (p.Thr915Ile)
|
rs1478677364
|
|
NM_006904.7(PRKDC):c.2754G>A (p.Ala918=)
|
|
|
NM_006904.7(PRKDC):c.2754G>T (p.Ala918=)
|
|
|
NM_006904.7(PRKDC):c.2760A>G (p.Thr920=)
|
rs745648790
|
|
NM_006904.7(PRKDC):c.2781+7C>T
|
rs1230734850
|
|
NM_006904.7(PRKDC):c.2782-15_2782-13del
|
|
|
NM_006904.7(PRKDC):c.2782-17del
|
rs1448789951
|
|
NM_006904.7(PRKDC):c.2786C>T (p.Ala929Val)
|
|
|
NM_006904.7(PRKDC):c.2788G>A (p.Ala930Thr)
|
|
|
NM_006904.7(PRKDC):c.2800T>G (p.Leu934Val)
|
|
|
NM_006904.7(PRKDC):c.2801T>C (p.Leu934Ser)
|
rs765339827
|
|
NM_006904.7(PRKDC):c.2817G>C (p.Met939Ile)
|
rs1026517720
|
|
NM_006904.7(PRKDC):c.2837C>T (p.Thr946Met)
|
|
|
NM_006904.7(PRKDC):c.2838G>A (p.Thr946=)
|
rs1200358191
|
|
NM_006904.7(PRKDC):c.2838G>C (p.Thr946=)
|
rs1200358191
|
|
NM_006904.7(PRKDC):c.2854G>A (p.Gly952Arg)
|
|
|
NM_006904.7(PRKDC):c.2861G>A (p.Gly954Glu)
|
|
|
NM_006904.7(PRKDC):c.2867C>T (p.Pro956Leu)
|
rs780533793
|
|
NM_006904.7(PRKDC):c.2873T>C (p.Met958Thr)
|
|
|
NM_006904.7(PRKDC):c.2876A>G (p.Tyr959Cys)
|
|
|
NM_006904.7(PRKDC):c.2879A>G (p.Gln960Arg)
|
|
|
NM_006904.7(PRKDC):c.2882T>C (p.Leu961Pro)
|
rs779126829
|
|
NM_006904.7(PRKDC):c.2887A>G (p.Lys963Glu)
|
|
|
NM_006904.7(PRKDC):c.2888A>T (p.Lys963Met)
|
|
|
NM_006904.7(PRKDC):c.2895G>A (p.Thr965=)
|
|
|
NM_006904.7(PRKDC):c.2919G>A (p.Ala973=)
|
rs372912665
|
|
NM_006904.7(PRKDC):c.2932C>A (p.Gln978Lys)
|
|
|
NM_006904.7(PRKDC):c.293A>T (p.Gln98Leu)
|
rs1474338260
|
|
NM_006904.7(PRKDC):c.2943G>A (p.Arg981=)
|
|
|
NM_006904.7(PRKDC):c.2945A>T (p.Gln982Leu)
|
|
|
NM_006904.7(PRKDC):c.2949G>A (p.Leu983=)
|
|
|
NM_006904.7(PRKDC):c.2958A>G (p.Pro986=)
|
rs368018782
|
|
NM_006904.7(PRKDC):c.2959C>G (p.Leu987Val)
|
rs201873394
|
|
NM_006904.7(PRKDC):c.2966T>A (p.Met989Lys)
|
rs749565098
|
|
NM_006904.7(PRKDC):c.2969A>C (p.Gln990Pro)
|
rs2089747877
|
|
NM_006904.7(PRKDC):c.2985C>A (p.Phe995Leu)
|
|
|
NM_006904.7(PRKDC):c.2998A>C (p.Lys1000Gln)
|
rs2154502453
|
|
NM_006904.7(PRKDC):c.3011A>C (p.Gln1004Pro)
|
rs2089746817
|
|
NM_006904.7(PRKDC):c.3023C>T (p.Ala1008Val)
|
rs2154502450
|
|
NM_006904.7(PRKDC):c.3042+10_3042+16del
|
rs770440841
|
|
NM_006904.7(PRKDC):c.3042+13T>G
|
|
|
NM_006904.7(PRKDC):c.3042+14G>T
|
|
|
NM_006904.7(PRKDC):c.3043-12G>T
|
|
|
NM_006904.7(PRKDC):c.3043-14T>C
|
|
|
NM_006904.7(PRKDC):c.3043-18C>T
|
|
|
NM_006904.7(PRKDC):c.3044A>G (p.Asp1015Gly)
|
rs370371531
|
|
NM_006904.7(PRKDC):c.3052G>A (p.Val1018Met)
|
rs376896763
|
|
NM_006904.7(PRKDC):c.3057C>T (p.Asp1019=)
|
rs2089712189
|
|
NM_006904.7(PRKDC):c.3071C>G (p.Thr1024Ser)
|
|
|
NM_006904.7(PRKDC):c.3075A>G (p.Leu1025=)
|
|
|
NM_006904.7(PRKDC):c.3088G>A (p.Gly1030Ser)
|
|
|
NM_006904.7(PRKDC):c.3098T>A (p.Ile1033Asn)
|
|
|
NM_006904.7(PRKDC):c.3105A>G (p.Glu1035=)
|
rs2154502365
|
|
NM_006904.7(PRKDC):c.312T>A (p.Ser104=)
|
rs1308530637
|
|
NM_006904.7(PRKDC):c.3148G>C (p.Glu1050Gln)
|
rs1352810131
|
|
NM_006904.7(PRKDC):c.3148_3150del (p.Glu1050del)
|
rs778725742
|
|
NM_006904.7(PRKDC):c.3185G>A (p.Arg1062Gln)
|
|
|
NM_006904.7(PRKDC):c.3195C>T (p.Ser1065=)
|
|
|
NM_006904.7(PRKDC):c.3236C>T (p.Ser1079Leu)
|
|
|
NM_006904.7(PRKDC):c.3237A>G (p.Ser1079=)
|
|
|
NM_006904.7(PRKDC):c.3237A>T (p.Ser1079=)
|
rs147895173
|
|
NM_006904.7(PRKDC):c.324+12A>G
|
|
|
NM_006904.7(PRKDC):c.3240T>C (p.Leu1080=)
|
|
|
NM_006904.7(PRKDC):c.3241G>A (p.Ala1081Thr)
|
|
|
NM_006904.7(PRKDC):c.3249T>C (p.Asn1083=)
|
|
|
NM_006904.7(PRKDC):c.325-10del
|
rs567466258
|
|
NM_006904.7(PRKDC):c.325-19dup
|
rs567466258
|
|
NM_006904.7(PRKDC):c.325-9A>G
|
|
|
NM_006904.7(PRKDC):c.325-9A>T
|
rs376140051
|
|
NM_006904.7(PRKDC):c.3256T>C (p.Tyr1086His)
|
rs1030128713
|
|
NM_006904.7(PRKDC):c.3269+20G>C
|
|
|
NM_006904.7(PRKDC):c.3270-13_3270-10del
|
|
|
NM_006904.7(PRKDC):c.3270-19C>T
|
|
|
NM_006904.7(PRKDC):c.3275A>C (p.Glu1092Ala)
|
|
|
NM_006904.7(PRKDC):c.3294G>A (p.Gln1098=)
|
|
|
NM_006904.7(PRKDC):c.3308C>T (p.Ala1103Val)
|
|
|
NM_006904.7(PRKDC):c.3315G>A (p.Val1105=)
|
rs56047668
|
|
NM_006904.7(PRKDC):c.3321C>T (p.Tyr1107=)
|
|
|
NM_006904.7(PRKDC):c.3330T>C (p.Ser1110=)
|
|
|
NM_006904.7(PRKDC):c.3342A>C (p.Ala1114=)
|
rs768410673
|
|
NM_006904.7(PRKDC):c.3357G>T (p.Lys1119Asn)
|
rs2089657258
|
|
NM_006904.7(PRKDC):c.3364+18G>A
|
|
|
NM_006904.7(PRKDC):c.3365-14G>A
|
|
|
NM_006904.7(PRKDC):c.3365-16C>G
|
|
|
NM_006904.7(PRKDC):c.3365-16C>T
|
|
|
NM_006904.7(PRKDC):c.3388G>A (p.Ala1130Thr)
|
|
|
NM_006904.7(PRKDC):c.3399C>T (p.His1133=)
|
|
|
NM_006904.7(PRKDC):c.339T>C (p.Ser113=)
|
|
|
NM_006904.7(PRKDC):c.33C>T (p.Ser11=)
|
|
|
NM_006904.7(PRKDC):c.3402A>G (p.Leu1134=)
|
|
|
NM_006904.7(PRKDC):c.3407G>T (p.Arg1136Leu)
|
|
|
NM_006904.7(PRKDC):c.3450A>G (p.Lys1150=)
|
rs1051973163
|
|
NM_006904.7(PRKDC):c.3455G>A (p.Arg1152His)
|
|
|
NM_006904.7(PRKDC):c.3461C>T (p.Pro1154Leu)
|
|
|
NM_006904.7(PRKDC):c.3464+12T>C
|
|
|
NM_006904.7(PRKDC):c.3464+18C>G
|
|
|
NM_006904.7(PRKDC):c.3464G>A (p.Arg1155Gln)
|
rs2154502170
|
|
NM_006904.7(PRKDC):c.3465-18T>C
|
|
|
NM_006904.7(PRKDC):c.3465A>T (p.Arg1155=)
|
rs756110850
|
|
NM_006904.7(PRKDC):c.3481G>A (p.Ala1161Thr)
|
rs977593814
|
|
NM_006904.7(PRKDC):c.3495A>G (p.Leu1165=)
|
|
|
NM_006904.7(PRKDC):c.3507C>G (p.Val1169=)
|
rs1318510872
|
|
NM_006904.7(PRKDC):c.3542C>G (p.Thr1181Arg)
|
rs1159656625
|
|
NM_006904.7(PRKDC):c.3543A>G (p.Thr1181=)
|
rs1563791832
|
|
NM_006904.7(PRKDC):c.3546A>G (p.Glu1182=)
|
rs2154502120
|
|
NM_006904.7(PRKDC):c.3547T>C (p.Cys1183Arg)
|
rs1455615092
|
|
NM_006904.7(PRKDC):c.354T>C (p.Asp118=)
|
|
|
NM_006904.7(PRKDC):c.3556A>G (p.Lys1186Glu)
|
rs2154502119
|
|
NM_006904.7(PRKDC):c.3562A>G (p.Ile1188Val)
|
rs368586692
|
|
NM_006904.7(PRKDC):c.3568C>G (p.Leu1190Val)
|
|
|
NM_006904.7(PRKDC):c.3582C>G (p.Phe1194Leu)
|
rs759130959
|
|
NM_006904.7(PRKDC):c.3582C>T (p.Phe1194=)
|
rs759130959
|
|
NM_006904.7(PRKDC):c.3583G>A (p.Val1195Ile)
|
|
|
NM_006904.7(PRKDC):c.3589T>C (p.Leu1197=)
|
rs2154502117
|
|
NM_006904.7(PRKDC):c.3598+15A>T
|
rs1227989815
|
|
NM_006904.7(PRKDC):c.3598+15AT[3]
|
|
|
NM_006904.7(PRKDC):c.3598+5G>A
|
rs2154502116
|
|
NM_006904.7(PRKDC):c.3599-17T>G
|
rs2154501981
|
|
NM_006904.7(PRKDC):c.3599-20A>C
|
|
|
NM_006904.7(PRKDC):c.3599-5dup
|
|
|
NM_006904.7(PRKDC):c.3599-8T>C
|
rs1230766744
|
|
NM_006904.7(PRKDC):c.3608C>G (p.Ser1203Cys)
|
rs2089506357
|
|
NM_006904.7(PRKDC):c.3615T>C (p.Asn1205=)
|
|
|
NM_006904.7(PRKDC):c.3622C>T (p.Leu1208=)
|
rs1589771763
|
|
NM_006904.7(PRKDC):c.3631G>A (p.Val1211Ile)
|
rs1438382972
|
|
NM_006904.7(PRKDC):c.3632T>A (p.Val1211Asp)
|
rs2089506122
|
|
NM_006904.7(PRKDC):c.3633T>A (p.Val1211=)
|
|
|
NM_006904.7(PRKDC):c.3641AAG[1] (p.Glu1215del)
|
rs755934491
|
|
NM_006904.7(PRKDC):c.3674A>T (p.Glu1225Val)
|
rs753345761
|
|
NM_006904.7(PRKDC):c.3677G>A (p.Gly1226Glu)
|
rs1168875123
|
|
NM_006904.7(PRKDC):c.3678G>C (p.Gly1226=)
|
|
|
NM_006904.7(PRKDC):c.3691C>G (p.Gln1231Glu)
|
rs906781571
|
|
NM_006904.7(PRKDC):c.3698C>G (p.Ser1233Trp)
|
rs575674401
|
|
NM_006904.7(PRKDC):c.3721C>T (p.Leu1241Phe)
|
|
|
NM_006904.7(PRKDC):c.3724T>C (p.Leu1242=)
|
|
|
NM_006904.7(PRKDC):c.3730dup (p.Leu1244fs)
|
rs11411516
|
|
NM_006904.7(PRKDC):c.3758C>T (p.Thr1253Met)
|
|
|
NM_006904.7(PRKDC):c.3759G>T (p.Thr1253=)
|
|
|
NM_006904.7(PRKDC):c.3777G>A (p.Leu1259=)
|
rs2154501965
|
|
NM_006904.7(PRKDC):c.3782T>C (p.Leu1261Pro)
|
rs2089500624
|
|
NM_006904.7(PRKDC):c.3788C>T (p.Ala1263Val)
|
rs1245428623
|
|
NM_006904.7(PRKDC):c.3789G>A (p.Ala1263=)
|
|
|
NM_006904.7(PRKDC):c.37C>G (p.Leu13Val)
|
rs761140462
|
|
NM_006904.7(PRKDC):c.3810C>T (p.Phe1270=)
|
|
|
NM_006904.7(PRKDC):c.3818A>G (p.Glu1273Gly)
|
rs2089499467
|
|
NM_006904.7(PRKDC):c.3844C>G (p.Leu1282Val)
|
|
|
NM_006904.7(PRKDC):c.3844C>T (p.Leu1282=)
|
rs926072607
|
|
NM_006904.7(PRKDC):c.3847+17T>G
|
|
|
NM_006904.7(PRKDC):c.3847+7C>A
|
|
|
NM_006904.7(PRKDC):c.3848-12A>G
|
|
|
NM_006904.7(PRKDC):c.3848-18T>C
|
rs2089436800
|
|
NM_006904.7(PRKDC):c.388C>G (p.Leu130Val)
|
|
|
NM_006904.7(PRKDC):c.3894A>G (p.Leu1298=)
|
rs2154501852
|
|
NM_006904.7(PRKDC):c.3896A>G (p.Glu1299Gly)
|
rs1276669818
|
|
NM_006904.7(PRKDC):c.3901A>G (p.Ile1301Val)
|
|
|
NM_006904.7(PRKDC):c.3908T>C (p.Met1303Thr)
|
rs1377200201
|
|
NM_006904.7(PRKDC):c.3919A>G (p.Ile1307Val)
|
rs2089435588
|
|
NM_006904.7(PRKDC):c.3921A>G (p.Ile1307Met)
|
rs1589769486
|
|
NM_006904.7(PRKDC):c.3923C>T (p.Ala1308Val)
|
rs1386230829
|
|
NM_006904.7(PRKDC):c.3930A>G (p.Glu1310=)
|
|
|
NM_006904.7(PRKDC):c.3945T>C (p.Thr1315=)
|
|
|
NM_006904.7(PRKDC):c.3951A>G (p.Ala1317=)
|
|
|
NM_006904.7(PRKDC):c.3975A>G (p.Gln1325=)
|
|
|
NM_006904.7(PRKDC):c.397A>C (p.Lys133Gln)
|
rs2154504672
|
|
NM_006904.7(PRKDC):c.3984A>G (p.Glu1328=)
|
rs2089433767
|
|
NM_006904.7(PRKDC):c.399+17G>A
|
|
|
NM_006904.7(PRKDC):c.399+20C>G
|
rs2154504670
|
|
NM_006904.7(PRKDC):c.399+20C>T
|
rs2154504670
|
|
NM_006904.7(PRKDC):c.399+5_399+6del
|
rs2090692534
|
|
NM_006904.7(PRKDC):c.399+7A>T
|
|
|
NM_006904.7(PRKDC):c.3993C>T (p.Asn1331=)
|
|
|
NM_006904.7(PRKDC):c.3994T>A (p.Tyr1332Asn)
|
|
|
NM_006904.7(PRKDC):c.400-12G>A
|
|
|
NM_006904.7(PRKDC):c.400-14T>C
|
|
|
NM_006904.7(PRKDC):c.400-18T>C
|
|
|
NM_006904.7(PRKDC):c.400-19_400-18dup
|
|
|
NM_006904.7(PRKDC):c.4002A>G (p.Lys1334=)
|
|
|
NM_006904.7(PRKDC):c.4011T>C (p.Val1337=)
|
|
|
NM_006904.7(PRKDC):c.4019G>A (p.Arg1340Gln)
|
|
|
NM_006904.7(PRKDC):c.4038G>A (p.Thr1346=)
|
|
|
NM_006904.7(PRKDC):c.4049A>C (p.Asn1350Thr)
|
rs2154501848
|
|
NM_006904.7(PRKDC):c.4052C>G (p.Thr1351Ser)
|
rs1487381864
|
|
NM_006904.7(PRKDC):c.4053C>G (p.Thr1351=)
|
|
|
NM_006904.7(PRKDC):c.4053C>T (p.Thr1351=)
|
rs2089432195
|
|
NM_006904.7(PRKDC):c.4058C>T (p.Pro1353Leu)
|
|
|
NM_006904.7(PRKDC):c.4071+17A>C
|
|
|
NM_006904.7(PRKDC):c.4072-12_4072-9del
|
rs575629886
|
|
NM_006904.7(PRKDC):c.4072-14_4072-11del
|
|
|
NM_006904.7(PRKDC):c.4072-7G>C
|
rs1402270832
|
|
NM_006904.7(PRKDC):c.4072-8T>C
|
|
|
NM_006904.7(PRKDC):c.4074C>A (p.Leu1358=)
|
rs755044476
|
|
NM_006904.7(PRKDC):c.4078AAG[1] (p.Lys1361del)
|
rs760158156
|
|
NM_006904.7(PRKDC):c.4083G>C (p.Lys1361Asn)
|
rs1376937128
|
|
NM_006904.7(PRKDC):c.4099C>T (p.His1367Tyr)
|
|
|
NM_006904.7(PRKDC):c.4108A>G (p.Arg1370Gly)
|
rs183449582
|
|
NM_006904.7(PRKDC):c.4119G>T (p.Val1373=)
|
|
|
NM_006904.7(PRKDC):c.4125G>A (p.Thr1375=)
|
rs369402421
|
|
NM_006904.7(PRKDC):c.4137C>A (p.Pro1379=)
|
|
|
NM_006904.7(PRKDC):c.4138G>T (p.Ala1380Ser)
|
|
|
NM_006904.7(PRKDC):c.4143C>T (p.Ser1381=)
|
rs2154501801
|
|
NM_006904.7(PRKDC):c.4145T>C (p.Ile1382Thr)
|
|
|
NM_006904.7(PRKDC):c.4154A>G (p.Asn1385Ser)
|
rs2089400389
|
|
NM_006904.7(PRKDC):c.4158C>T (p.Ile1386=)
|
|
|
NM_006904.7(PRKDC):c.4174A>G (p.Met1392Val)
|
|
|
NM_006904.7(PRKDC):c.4183C>G (p.Leu1395Val)
|
|
|
NM_006904.7(PRKDC):c.4213G>A (p.Ala1405Thr)
|
rs1646937911
|
|
NM_006904.7(PRKDC):c.4227C>T (p.Ser1409=)
|
|
|
NM_006904.7(PRKDC):c.4230A>G (p.Pro1410=)
|
rs2154501797
|
|
NM_006904.7(PRKDC):c.4241T>C (p.Ile1414Thr)
|
|
|
NM_006904.7(PRKDC):c.427C>T (p.Leu143Phe)
|
rs756309558
|
|
NM_006904.7(PRKDC):c.4280+17C>T
|
|
|
NM_006904.7(PRKDC):c.4280+19A>G
|
|
|
NM_006904.7(PRKDC):c.4280+19dup
|
|
|
NM_006904.7(PRKDC):c.4281-8A>G
|
|
|
NM_006904.7(PRKDC):c.4282A>G (p.Ile1428Val)
|
rs2089388910
|
|
NM_006904.7(PRKDC):c.4284T>G (p.Ile1428Met)
|
rs764777087
|
|
NM_006904.7(PRKDC):c.4292T>A (p.Leu1431His)
|
|
|
NM_006904.7(PRKDC):c.4293T>C (p.Leu1431=)
|
|
|
NM_006904.7(PRKDC):c.429C>A (p.Leu143=)
|
|
|
NM_006904.7(PRKDC):c.4308G>A (p.Leu1436=)
|
rs781650863
|
|
NM_006904.7(PRKDC):c.4328T>A (p.Val1443Glu)
|
rs2154501772
|
|
NM_006904.7(PRKDC):c.4333A>G (p.Arg1445Gly)
|
|
|
NM_006904.7(PRKDC):c.4350T>C (p.Ala1450=)
|
rs2154501770
|
|
NM_006904.7(PRKDC):c.4351G>A (p.Val1451Ile)
|
|
|
NM_006904.7(PRKDC):c.4371G>A (p.Gln1457=)
|
rs761154232
|
|
NM_006904.7(PRKDC):c.4371G>T (p.Gln1457His)
|
rs761154232
|
|
NM_006904.7(PRKDC):c.4397A>G (p.Asn1466Ser)
|
rs1046243436
|
|
NM_006904.7(PRKDC):c.4399A>G (p.Ile1467Val)
|
rs2089385248
|
|
NM_006904.7(PRKDC):c.4400T>C (p.Ile1467Thr)
|
|
|
NM_006904.7(PRKDC):c.4413+14A>G
|
|
|
NM_006904.7(PRKDC):c.4413+7_4413+12del
|
rs2154501769
|
|
NM_006904.7(PRKDC):c.4414T>C (p.Ser1472Pro)
|
|
|
NM_006904.7(PRKDC):c.4429C>T (p.His1477Tyr)
|
|
|
NM_006904.7(PRKDC):c.4431T>C (p.His1477=)
|
|
|
NM_006904.7(PRKDC):c.4459G>A (p.Val1487Ile)
|
|
|
NM_006904.7(PRKDC):c.4469G>T (p.Gly1490Val)
|
rs1192667898
|
|
NM_006904.7(PRKDC):c.4475C>T (p.Ala1492Val)
|
rs530842546
|
|
NM_006904.7(PRKDC):c.4483G>C (p.Asp1495His)
|
|
|
NM_006904.7(PRKDC):c.4486G>A (p.Glu1496Lys)
|
rs375658369
|
|
NM_006904.7(PRKDC):c.4526A>G (p.Gln1509Arg)
|
|
|
NM_006904.7(PRKDC):c.4536C>T (p.Ser1512=)
|
|
|
NM_006904.7(PRKDC):c.4537G>T (p.Gly1513Ter)
|
|
|
NM_006904.7(PRKDC):c.4538G>A (p.Gly1513Glu)
|
|
|
NM_006904.7(PRKDC):c.4567G>C (p.Gly1523Arg)
|
|
|
NM_006904.7(PRKDC):c.4572+11C>T
|
|
|
NM_006904.7(PRKDC):c.4572+19C>T
|
rs2089363647
|
|
NM_006904.7(PRKDC):c.4573-11_4573-10delinsAC
|
rs1589765898
|
|
NM_006904.7(PRKDC):c.4573-12T>C
|
|
|
NM_006904.7(PRKDC):c.4573-14T>G
|
|
|
NM_006904.7(PRKDC):c.4573-15C>T
|
|
|
NM_006904.7(PRKDC):c.4573-16_4573-14del
|
rs777387184
|
|
NM_006904.7(PRKDC):c.4573-8T>C
|
|
|
NM_006904.7(PRKDC):c.4578G>A (p.Glu1526=)
|
|
|
NM_006904.7(PRKDC):c.4578G>T (p.Glu1526Asp)
|
rs367604576
|
|
NM_006904.7(PRKDC):c.457T>C (p.Phe153Leu)
|
|
|
NM_006904.7(PRKDC):c.4588A>G (p.Ser1530Gly)
|
|
|
NM_006904.7(PRKDC):c.4592T>G (p.Leu1531Arg)
|
|
|
NM_006904.7(PRKDC):c.4605A>G (p.Pro1535=)
|
|
|
NM_006904.7(PRKDC):c.4608G>A (p.Ala1536=)
|
|
|
NM_006904.7(PRKDC):c.4614G>C (p.Leu1538=)
|
|
|
NM_006904.7(PRKDC):c.4619C>A (p.Thr1540Lys)
|
rs769502872
|
|
NM_006904.7(PRKDC):c.4619C>T (p.Thr1540Met)
|
rs769502872
|
|
NM_006904.7(PRKDC):c.4623G>A (p.Ala1541=)
|
|
|
NM_006904.7(PRKDC):c.4627T>G (p.Leu1543Val)
|
|
|
NM_006904.7(PRKDC):c.462T>C (p.Ser154=)
|
|
|
NM_006904.7(PRKDC):c.4632C>T (p.Gly1544=)
|
|
|
NM_006904.7(PRKDC):c.4635C>T (p.Ser1545=)
|
rs772652975
|
|
NM_006904.7(PRKDC):c.4648G>A (p.Val1550Ile)
|
|
|
NM_006904.7(PRKDC):c.4651A>G (p.Ile1551Val)
|
rs1563785241
|
|
NM_006904.7(PRKDC):c.4665T>C (p.His1555=)
|
|
|
NM_006904.7(PRKDC):c.4669G>A (p.Glu1557Lys)
|
|
|
NM_006904.7(PRKDC):c.4675T>C (p.Phe1559Leu)
|
|
|
NM_006904.7(PRKDC):c.4682G>C (p.Ser1561Thr)
|
rs535333684
|
|
NM_006904.7(PRKDC):c.4689C>T (p.Phe1563=)
|
|
|
NM_006904.7(PRKDC):c.4697C>T (p.Thr1566Met)
|
|
|
NM_006904.7(PRKDC):c.4700T>A (p.Ile1567Asn)
|
rs1024106474
|
|
NM_006904.7(PRKDC):c.4703A>G (p.Asn1568Ser)
|
rs762873681
|
|
NM_006904.7(PRKDC):c.4714T>C (p.Leu1572=)
|
|
|
NM_006904.7(PRKDC):c.4726G>A (p.Asp1576Asn)
|
rs761621190
|
|
NM_006904.7(PRKDC):c.473G>C (p.Gly158Ala)
|
rs2154504596
|
|
NM_006904.7(PRKDC):c.4762G>A (p.Asp1588Asn)
|
rs371148497
|
|
NM_006904.7(PRKDC):c.4765A>G (p.Asn1589Asp)
|
|
|
NM_006904.7(PRKDC):c.4770C>G (p.Thr1590=)
|
|
|
NM_006904.7(PRKDC):c.4773A>G (p.Lys1591=)
|
rs2089318466
|
|
NM_006904.7(PRKDC):c.4776+14C>G
|
|
|
NM_006904.7(PRKDC):c.4777-19C>T
|
|
|
NM_006904.7(PRKDC):c.4777-5C>T
|
rs373031020
|
|
NM_006904.7(PRKDC):c.4779G>T (p.Val1593=)
|
|
|
NM_006904.7(PRKDC):c.4785C>A (p.Ala1595=)
|
rs769950590
|
|
NM_006904.7(PRKDC):c.4785C>T (p.Ala1595=)
|
|
|
NM_006904.7(PRKDC):c.4790T>G (p.Leu1597Trp)
|
|
|
NM_006904.7(PRKDC):c.4795G>A (p.Gly1599Ser)
|
|
|
NM_006904.7(PRKDC):c.4808A>G (p.Gln1603Arg)
|
|
|
NM_006904.7(PRKDC):c.4829A>C (p.Asn1610Thr)
|
rs1589762969
|
|
NM_006904.7(PRKDC):c.4838A>G (p.His1613Arg)
|
rs767235558
|
|
NM_006904.7(PRKDC):c.4856C>T (p.Ala1619Val)
|
rs56182356
|
|
NM_006904.7(PRKDC):c.4867C>A (p.Leu1623Met)
|
rs1554638445
|
|
NM_006904.7(PRKDC):c.4873C>T (p.His1625Tyr)
|
|
|
NM_006904.7(PRKDC):c.4881G>A (p.Lys1627=)
|
|
|
NM_006904.7(PRKDC):c.4882A>T (p.Lys1628Ter)
|
|
|
NM_006904.7(PRKDC):c.4917C>G (p.Leu1639=)
|
|
|
NM_006904.7(PRKDC):c.4918G>A (p.Glu1640Lys)
|
|
|
NM_006904.7(PRKDC):c.4927A>G (p.Met1643Val)
|
rs749223265
|
|
NM_006904.7(PRKDC):c.4933G>C (p.Val1645Leu)
|
|
|
NM_006904.7(PRKDC):c.4936C>T (p.Leu1646=)
|
rs1554638426
|
|
NM_006904.7(PRKDC):c.4937T>C (p.Leu1646Pro)
|
|
|
NM_006904.7(PRKDC):c.4963-11C>T
|
|
|
NM_006904.7(PRKDC):c.4964T>C (p.Ile1655Thr)
|
|
|
NM_006904.7(PRKDC):c.496dup (p.Ile166fs)
|
rs537061158
|
|
NM_006904.7(PRKDC):c.4979C>G (p.Ser1660Cys)
|
rs2089216105
|
|
NM_006904.7(PRKDC):c.4988C>G (p.Thr1663Arg)
|
|
|
NM_006904.7(PRKDC):c.4998T>C (p.Gly1666=)
|
rs2154501497
|
|
NM_006904.7(PRKDC):c.5011G>A (p.Val1671Ile)
|
rs781129481
|
|
NM_006904.7(PRKDC):c.5024A>G (p.Tyr1675Cys)
|
|
|
NM_006904.7(PRKDC):c.5025T>C (p.Tyr1675=)
|
|
|
NM_006904.7(PRKDC):c.5052G>C (p.Leu1684=)
|
|
|
NM_006904.7(PRKDC):c.5058A>G (p.Leu1686=)
|
rs915511932
|
|
NM_006904.7(PRKDC):c.5068-19T>C
|
|
|
NM_006904.7(PRKDC):c.5079C>T (p.Val1693=)
|
|
|
NM_006904.7(PRKDC):c.507A>G (p.Thr169=)
|
|
|
NM_006904.7(PRKDC):c.508+10A>C
|
rs2154504593
|
|
NM_006904.7(PRKDC):c.508+16A>T
|
|
|
NM_006904.7(PRKDC):c.508+17T>G
|
rs2154504592
|
|
NM_006904.7(PRKDC):c.5084TTC[1] (p.Leu1696del)
|
|
|
NM_006904.7(PRKDC):c.509-20G>C
|
|
|
NM_006904.7(PRKDC):c.509-4T>G
|
rs200774352
|
|
NM_006904.7(PRKDC):c.5099C>T (p.Thr1700Ile)
|
rs1420188419
|
|
NM_006904.7(PRKDC):c.5101A>G (p.Ser1701Gly)
|
rs2154501401
|
|
NM_006904.7(PRKDC):c.5108C>G (p.Thr1703Ser)
|
|
|
NM_006904.7(PRKDC):c.512T>C (p.Leu171Ser)
|
|
|
NM_006904.7(PRKDC):c.5134C>T (p.Arg1712Cys)
|
rs1274434553
|
|
NM_006904.7(PRKDC):c.5146C>G (p.Gln1716Glu)
|
rs2154501398
|
|
NM_006904.7(PRKDC):c.5151C>T (p.Leu1717=)
|
|
|
NM_006904.7(PRKDC):c.5154C>T (p.Ile1718=)
|
|
|
NM_006904.7(PRKDC):c.5170A>G (p.Met1724Val)
|
|
|
NM_006904.7(PRKDC):c.5181G>C (p.Arg1727Ser)
|
rs1363640503
|
|
NM_006904.7(PRKDC):c.5217T>C (p.Tyr1739=)
|
|
|
NM_006904.7(PRKDC):c.5226C>T (p.Cys1742=)
|
rs2154501393
|
|
NM_006904.7(PRKDC):c.522A>G (p.Val174=)
|
|
|
NM_006904.7(PRKDC):c.5230A>C (p.Lys1744Gln)
|
rs1301586283
|
|
NM_006904.7(PRKDC):c.5235+14A>C
|
|
|
NM_006904.7(PRKDC):c.5235+15G>A
|
|
|
NM_006904.7(PRKDC):c.5235+18T>C
|
rs1477403006
|
|
NM_006904.7(PRKDC):c.5236-11A>G
|
|
|
NM_006904.7(PRKDC):c.5236-14T>C
|
rs781688990
|
|
NM_006904.7(PRKDC):c.5236-20T>C
|
|
|
NM_006904.7(PRKDC):c.5236-5dup
|
|
|
NM_006904.7(PRKDC):c.5243A>G (p.Asp1748Gly)
|
|
|
NM_006904.7(PRKDC):c.5248T>C (p.Leu1750=)
|
rs1262345485
|
|
NM_006904.7(PRKDC):c.5258C>G (p.Ser1753Cys)
|
|
|
NM_006904.7(PRKDC):c.5274G>T (p.Leu1758Phe)
|
|
|
NM_006904.7(PRKDC):c.529C>T (p.Leu177Phe)
|
|
|
NM_006904.7(PRKDC):c.5302C>G (p.Arg1768Gly)
|
rs373058432
|
|
NM_006904.7(PRKDC):c.5319C>A (p.Val1773=)
|
rs2154501314
|
|
NM_006904.7(PRKDC):c.5321T>G (p.Met1774Arg)
|
rs1589759761
|
|
NM_006904.7(PRKDC):c.5337A>G (p.Gln1779=)
|
|
|
NM_006904.7(PRKDC):c.5340C>T (p.Ser1780=)
|
|
|
NM_006904.7(PRKDC):c.5355T>A (p.Ile1785=)
|
|
|
NM_006904.7(PRKDC):c.5356G>A (p.Ala1786Thr)
|
rs1589759729
|
|
NM_006904.7(PRKDC):c.5363+15C>T
|
|
|
NM_006904.7(PRKDC):c.5363+18G>T
|
|
|
NM_006904.7(PRKDC):c.5363+2T>C
|
rs1563780267
|
|
NM_006904.7(PRKDC):c.5363+8A>C
|
|
|
NM_006904.7(PRKDC):c.5363+8A>G
|
rs1457497303
|
|
NM_006904.7(PRKDC):c.5364-10G>A
|
|
|
NM_006904.7(PRKDC):c.5364G>A (p.Arg1788=)
|
|
|
NM_006904.7(PRKDC):c.5366G>T (p.Gly1789Val)
|
rs2154500817
|
|
NM_006904.7(PRKDC):c.5383G>C (p.Val1795Leu)
|
rs2154500816
|
|
NM_006904.7(PRKDC):c.5400C>T (p.Ser1800=)
|
rs776197997
|
|
NM_006904.7(PRKDC):c.5428C>T (p.Pro1810Ser)
|
rs2088765614
|
|
NM_006904.7(PRKDC):c.5430C>T (p.Pro1810=)
|
|
|
NM_006904.7(PRKDC):c.5463C>G (p.Asp1821Glu)
|
rs2088764199
|
|
NM_006904.7(PRKDC):c.5466C>T (p.Arg1822=)
|
rs1418857770
|
|
NM_006904.7(PRKDC):c.5481G>A (p.Leu1827=)
|
|
|
NM_006904.7(PRKDC):c.5488C>T (p.His1830Tyr)
|
|
|
NM_006904.7(PRKDC):c.5497C>T (p.Leu1833=)
|
rs2154500805
|
|
NM_006904.7(PRKDC):c.5511A>G (p.Arg1837=)
|
|
|
NM_006904.7(PRKDC):c.5526A>G (p.Thr1842=)
|
|
|
NM_006904.7(PRKDC):c.5533G>A (p.Val1845Met)
|
rs749630133
|
|
NM_006904.7(PRKDC):c.5544T>C (p.Ile1848=)
|
|
|
NM_006904.7(PRKDC):c.5550G>A (p.Val1850=)
|
rs774776599
|
|
NM_006904.7(PRKDC):c.5571+10G>A
|
|
|
NM_006904.7(PRKDC):c.5571+9C>T
|
|
|
NM_006904.7(PRKDC):c.5576A>G (p.Asn1859Ser)
|
rs2088727928
|
|
NM_006904.7(PRKDC):c.559A>G (p.Ser187Gly)
|
|
|
NM_006904.7(PRKDC):c.5617T>C (p.Tyr1873His)
|
|
|
NM_006904.7(PRKDC):c.5625G>A (p.Lys1875=)
|
rs2154500756
|
|
NM_006904.7(PRKDC):c.5638A>G (p.Met1880Val)
|
|
|
NM_006904.7(PRKDC):c.5677G>A (p.Glu1893Lys)
|
|
|
NM_006904.7(PRKDC):c.5691T>C (p.Asn1897=)
|
|
|
NM_006904.7(PRKDC):c.5703T>A (p.His1901Gln)
|
rs1563773425
|
|
NM_006904.7(PRKDC):c.5709G>T (p.Ser1903=)
|
|
|
NM_006904.7(PRKDC):c.5711G>A (p.Cys1904Tyr)
|
rs1589750943
|
|
NM_006904.7(PRKDC):c.572A>T (p.Asn191Ile)
|
rs2090663217
|
|
NM_006904.7(PRKDC):c.5736A>G (p.Thr1912=)
|
rs2154500745
|
|
NM_006904.7(PRKDC):c.5750+11A>G
|
rs1015486617
|
|
NM_006904.7(PRKDC):c.5750+15_5750+16insAG
|
|
|
NM_006904.7(PRKDC):c.5750+17_5750+21del
|
|
|
NM_006904.7(PRKDC):c.5750+3A>G
|
rs2154500743
|
|
NM_006904.7(PRKDC):c.5751-10CT[2]
|
rs1417067270
|
|
NM_006904.7(PRKDC):c.5751-12A>T
|
|
|
NM_006904.7(PRKDC):c.5751-16A>G
|
|
|
NM_006904.7(PRKDC):c.5751-9T>C
|
rs746989800
|
|
NM_006904.7(PRKDC):c.5759A>G (p.Tyr1920Cys)
|
rs2088700674
|
|
NM_006904.7(PRKDC):c.5764G>A (p.Ala1922Thr)
|
rs2154500711
|
|
NM_006904.7(PRKDC):c.5800C>T (p.Leu1934=)
|
rs2154500710
|
|
NM_006904.7(PRKDC):c.5829A>G (p.Ala1943=)
|
|
|
NM_006904.7(PRKDC):c.5844C>T (p.Ala1948=)
|
|
|
NM_006904.7(PRKDC):c.5846T>C (p.Ile1949Thr)
|
|
|
NM_006904.7(PRKDC):c.5854A>G (p.Ile1952Val)
|
|
|
NM_006904.7(PRKDC):c.5858G>A (p.Cys1953Tyr)
|
|
|
NM_006904.7(PRKDC):c.5868C>T (p.Phe1956=)
|
rs1589750389
|
|
NM_006904.7(PRKDC):c.586C>A (p.Leu196Met)
|
rs2090663090
|
|
NM_006904.7(PRKDC):c.586C>G (p.Leu196Val)
|
|
|
NM_006904.7(PRKDC):c.5874G>A (p.Glu1958=)
|
|
|
NM_006904.7(PRKDC):c.5898G>A (p.Leu1966=)
|
|
|
NM_006904.7(PRKDC):c.5901T>C (p.Phe1967=)
|
|
|
NM_006904.7(PRKDC):c.5911C>A (p.Pro1971Thr)
|
rs1348319468
|
|
NM_006904.7(PRKDC):c.5919+13T>G
|
rs373147663
|
|
NM_006904.7(PRKDC):c.5919+15C>T
|
|
|
NM_006904.7(PRKDC):c.5919+5G>A
|
rs1240315959
|
|
NM_006904.7(PRKDC):c.5920-10G>A
|
rs2154500699
|
|
NM_006904.7(PRKDC):c.5920-11T>G
|
|
|
NM_006904.7(PRKDC):c.5920-13T>C
|
|
|
NM_006904.7(PRKDC):c.5920-14C>T
|
|
|
NM_006904.7(PRKDC):c.5920-16T>C
|
|
|
NM_006904.7(PRKDC):c.5920-17A>G
|
|
|
NM_006904.7(PRKDC):c.5920-20A>G
|
|
|
NM_006904.7(PRKDC):c.5920-4A>G
|
|
|
NM_006904.7(PRKDC):c.592C>T (p.Arg198Cys)
|
|
|
NM_006904.7(PRKDC):c.593_618del (p.Arg198fs)
|
rs1589817900
|
|
NM_006904.7(PRKDC):c.5955G>A (p.Lys1985=)
|
|
|
NM_006904.7(PRKDC):c.5960G>A (p.Arg1987His)
|
rs551812114
|
|
NM_006904.7(PRKDC):c.5961C>G (p.Arg1987=)
|
|
|
NM_006904.7(PRKDC):c.5963A>T (p.Tyr1988Phe)
|
rs1187674610
|
|
NM_006904.7(PRKDC):c.5967T>C (p.Asn1989=)
|
rs1589750131
|
|
NM_006904.7(PRKDC):c.5977G>C (p.Glu1993Gln)
|
rs2088690604
|
|
NM_006904.7(PRKDC):c.5982T>G (p.Val1994=)
|
|
|
NM_006904.7(PRKDC):c.5986-14G>A
|
|
|
NM_006904.7(PRKDC):c.5986-16T>C
|
rs976983168
|
|
NM_006904.7(PRKDC):c.5986-20T>G
|
|
|
NM_006904.7(PRKDC):c.5986-6C>T
|
|
|
NM_006904.7(PRKDC):c.5990C>T (p.Pro1997Leu)
|
rs558071133
|
|
NM_006904.7(PRKDC):c.5991T>C (p.Pro1997=)
|
|
|
NM_006904.7(PRKDC):c.5992A>G (p.Met1998Val)
|
|
|
NM_006904.7(PRKDC):c.5992A>T (p.Met1998Leu)
|
|
|
NM_006904.7(PRKDC):c.6002A>T (p.Lys2001Met)
|
rs2154500645
|
|
NM_006904.7(PRKDC):c.6013A>G (p.Ile2005Val)
|
|
|
NM_006904.7(PRKDC):c.601C>T (p.Leu201=)
|
|
|
NM_006904.7(PRKDC):c.6033C>T (p.Ala2011=)
|
|
|
NM_006904.7(PRKDC):c.603G>C (p.Leu201=)
|
|
|
NM_006904.7(PRKDC):c.603G>T (p.Leu201=)
|
|
|
NM_006904.7(PRKDC):c.6043G>A (p.Ala2015Thr)
|
rs2154500643
|
|
NM_006904.7(PRKDC):c.6048T>C (p.Asn2016=)
|
|
|
NM_006904.7(PRKDC):c.6057A>G (p.Ser2019=)
|
|
|
NM_006904.7(PRKDC):c.6058+17_6058+20del
|
|
|
NM_006904.7(PRKDC):c.6059A>G (p.Asp2020Gly)
|
|
|
NM_006904.7(PRKDC):c.6062G>T (p.Gly2021Val)
|
|
|
NM_006904.7(PRKDC):c.6072T>C (p.Tyr2024=)
|
rs544553927
|
|
NM_006904.7(PRKDC):c.6081C>T (p.Ser2027=)
|
|
|
NM_006904.7(PRKDC):c.610C>G (p.Leu204Val)
|
|
|
NM_006904.7(PRKDC):c.6110G>C (p.Ser2037Thr)
|
|
|
NM_006904.7(PRKDC):c.6123T>C (p.Ser2041=)
|
rs2088629905
|
|
NM_006904.7(PRKDC):c.613A>G (p.Lys205Glu)
|
rs2154504579
|
|
NM_006904.7(PRKDC):c.6142G>A (p.Gly2048Arg)
|
|
|
NM_006904.7(PRKDC):c.6159A>G (p.Ser2053=)
|
|
|
NM_006904.7(PRKDC):c.6177T>C (p.Pro2059=)
|
rs1176400844
|
|
NM_006904.7(PRKDC):c.6188C>A (p.Thr2063Asn)
|
rs747319015
|
|
NM_006904.7(PRKDC):c.6189T>C (p.Thr2063=)
|
rs558642122
|
|
NM_006904.7(PRKDC):c.618C>T (p.Thr206=)
|
rs753601377
|
|
NM_006904.7(PRKDC):c.6190G>C (p.Gly2064Arg)
|
|
|
NM_006904.7(PRKDC):c.6194G>A (p.Arg2065His)
|
|
|
NM_006904.7(PRKDC):c.6207+11T>A
|
|
|
NM_006904.7(PRKDC):c.6207+13C>G
|
|
|
NM_006904.7(PRKDC):c.6207+16A>G
|
|
|
NM_006904.7(PRKDC):c.6207+17T>A
|
|
|
NM_006904.7(PRKDC):c.6208-11C>T
|
|
|
NM_006904.7(PRKDC):c.6208-2A>C
|
|
|
NM_006904.7(PRKDC):c.6208-3C>G
|
|
|
NM_006904.7(PRKDC):c.6208-3C>T
|
rs2088612676
|
|
NM_006904.7(PRKDC):c.621+18A>G
|
rs2154504576
|
|
NM_006904.7(PRKDC):c.621+19C>G
|
rs1367802277
|
|
NM_006904.7(PRKDC):c.621+7T>A
|
rs2154504578
|
|
NM_006904.7(PRKDC):c.6210G>A (p.Glu2070=)
|
rs1463966300
|
|
NM_006904.7(PRKDC):c.6214C>T (p.Arg2072Trp)
|
|
|
NM_006904.7(PRKDC):c.6217G>C (p.Asp2073His)
|
|
|
NM_006904.7(PRKDC):c.622-19_622-17del
|
rs147184259
|
|
NM_006904.7(PRKDC):c.6225G>A (p.Thr2075=)
|
|
|
NM_006904.7(PRKDC):c.6225G>T (p.Thr2075=)
|
|
|
NM_006904.7(PRKDC):c.6228G>A (p.Val2076=)
|
rs2154500563
|
|
NM_006904.7(PRKDC):c.6230A>C (p.His2077Pro)
|
rs775809811
|
|
NM_006904.7(PRKDC):c.6236A>C (p.Asp2079Ala)
|
|
|
NM_006904.7(PRKDC):c.6241C>T (p.Leu2081=)
|
|
|
NM_006904.7(PRKDC):c.6249G>A (p.Leu2083=)
|
rs2088611101
|
|
NM_006904.7(PRKDC):c.624G>A (p.Met208Ile)
|
rs2154504570
|
|
NM_006904.7(PRKDC):c.6253A>T (p.Met2085Leu)
|
rs746972391
|
|
NM_006904.7(PRKDC):c.6258C>T (p.Asp2086=)
|
|
|
NM_006904.7(PRKDC):c.6269G>A (p.Arg2090Gln)
|
|
|
NM_006904.7(PRKDC):c.6269G>C (p.Arg2090Pro)
|
rs371328148
|
|
NM_006904.7(PRKDC):c.627A>T (p.Thr209=)
|
|
|
NM_006904.7(PRKDC):c.6285G>A (p.Ala2095=)
|
|
|
NM_006904.7(PRKDC):c.6285G>T (p.Ala2095=)
|
|
|
NM_006904.7(PRKDC):c.62C>T (p.Ala21Val)
|
|
|
NM_006904.7(PRKDC):c.6303C>G (p.Val2101=)
|
rs769866046
|
|
NM_006904.7(PRKDC):c.6308A>T (p.His2103Leu)
|
rs2154500555
|
|
NM_006904.7(PRKDC):c.6310A>C (p.Met2104Leu)
|
|
|
NM_006904.7(PRKDC):c.6330G>A (p.Pro2110=)
|
rs748977028
|
|
NM_006904.7(PRKDC):c.6338_6340del (p.Gly2113del)
|
rs79703138
|
|
NM_006904.7(PRKDC):c.6339A>C (p.Gly2113=)
|
|
|
NM_006904.7(PRKDC):c.6345+10C>T
|
rs1215010878
|
|
NM_006904.7(PRKDC):c.6345+3G>T
|
|
|
NM_006904.7(PRKDC):c.6346-14A>G
|
rs923676886
|
|
NM_006904.7(PRKDC):c.6346-14A>T
|
|
|
NM_006904.7(PRKDC):c.6346-7A>G
|
|
|
NM_006904.7(PRKDC):c.6346-8T>C
|
|
|
NM_006904.7(PRKDC):c.6355C>G (p.Pro2119Ala)
|
|
|
NM_006904.7(PRKDC):c.6355C>T (p.Pro2119Ser)
|
|
|
NM_006904.7(PRKDC):c.6357A>G (p.Pro2119=)
|
|
|
NM_006904.7(PRKDC):c.6362A>G (p.Asp2121Gly)
|
rs2088599092
|
|
NM_006904.7(PRKDC):c.6370T>A (p.Ser2124Thr)
|
rs2088598886
|
|
NM_006904.7(PRKDC):c.6371C>T (p.Ser2124Phe)
|
|
|
NM_006904.7(PRKDC):c.6376A>C (p.Met2126Leu)
|
|
|
NM_006904.7(PRKDC):c.63T>C (p.Ala21=)
|
|
|
NM_006904.7(PRKDC):c.6435C>A (p.Phe2145Leu)
|
|
|
NM_006904.7(PRKDC):c.6439G>A (p.Ala2147Thr)
|
|
|
NM_006904.7(PRKDC):c.6441C>G (p.Ala2147=)
|
rs376156239
|
|
NM_006904.7(PRKDC):c.644C>G (p.Pro215Arg)
|
|
|
NM_006904.7(PRKDC):c.6453T>G (p.Ile2151Met)
|
|
|
NM_006904.7(PRKDC):c.6465+3A>G
|
|
|
NM_006904.7(PRKDC):c.6466-12A>G
|
|
|
NM_006904.7(PRKDC):c.6466-14A>G
|
rs2154500492
|
|
NM_006904.7(PRKDC):c.6466-15T>G
|
|
|
NM_006904.7(PRKDC):c.6466-18T>C
|
|
|
NM_006904.7(PRKDC):c.6487C>T (p.His2163Tyr)
|
|
|
NM_006904.7(PRKDC):c.6505C>T (p.Leu2169=)
|
|
|
NM_006904.7(PRKDC):c.6514G>A (p.Ala2172Thr)
|
|
|
NM_006904.7(PRKDC):c.6527A>G (p.Asn2176Ser)
|
|
|
NM_006904.7(PRKDC):c.6533G>A (p.Gly2178Glu)
|
rs2154500489
|
|
NM_006904.7(PRKDC):c.655G>C (p.Val219Leu)
|
rs1247432451
|
|
NM_006904.7(PRKDC):c.6585A>G (p.Ser2195=)
|
|
|
NM_006904.7(PRKDC):c.6595T>G (p.Leu2199Val)
|
|
|
NM_006904.7(PRKDC):c.6607A>G (p.Thr2203Ala)
|
rs2088560741
|
|
NM_006904.7(PRKDC):c.6609+11A>G
|
|
|
NM_006904.7(PRKDC):c.6609+19T>G
|
|
|
NM_006904.7(PRKDC):c.6609+7A>C
|
|
|
NM_006904.7(PRKDC):c.6610-12G>C
|
rs199932047
|
|
NM_006904.7(PRKDC):c.6610-14C>T
|
|
|
NM_006904.7(PRKDC):c.6612G>T (p.Gly2204=)
|
|
|
NM_006904.7(PRKDC):c.6635C>G (p.Ala2212Gly)
|
rs2088510654
|
|
NM_006904.7(PRKDC):c.6637A>G (p.Asn2213Asp)
|
|
|
NM_006904.7(PRKDC):c.6642A>G (p.Arg2214=)
|
|
|
NM_006904.7(PRKDC):c.6663A>G (p.Lys2221=)
|
rs767142634
|
|
NM_006904.7(PRKDC):c.6678A>C (p.Pro2226=)
|
|
|
NM_006904.7(PRKDC):c.6685G>A (p.Ala2229Thr)
|
rs2088509383
|
|
NM_006904.7(PRKDC):c.6696A>G (p.Arg2232=)
|
|
|
NM_006904.7(PRKDC):c.6699C>T (p.His2233=)
|
|
|
NM_006904.7(PRKDC):c.6706G>C (p.Glu2236Gln)
|
rs2088508881
|
|
NM_006904.7(PRKDC):c.670C>A (p.Leu224Met)
|
|
|
NM_006904.7(PRKDC):c.6744T>C (p.Cys2248=)
|
|
|
NM_006904.7(PRKDC):c.6761+10C>T
|
rs2088506873
|
|
NM_006904.7(PRKDC):c.6761+13del
|
|
|
NM_006904.7(PRKDC):c.6762-15G>A
|
rs373893040
|
|
NM_006904.7(PRKDC):c.6762-15G>T
|
|
|
NM_006904.7(PRKDC):c.6772G>T (p.Glu2258Ter)
|
rs1589744116
|
|
NM_006904.7(PRKDC):c.6784G>A (p.Gly2262Ser)
|
rs754689694
|
|
NM_006904.7(PRKDC):c.6784G>C (p.Gly2262Arg)
|
rs754689694
|
|
NM_006904.7(PRKDC):c.6797A>G (p.Asn2266Ser)
|
|
|
NM_006904.7(PRKDC):c.6798T>G (p.Asn2266Lys)
|
|
|
NM_006904.7(PRKDC):c.6802A>G (p.Lys2268Glu)
|
rs1589744087
|
|
NM_006904.7(PRKDC):c.6823C>G (p.Gln2275Glu)
|
|
|
NM_006904.7(PRKDC):c.6838G>A (p.Val2280Met)
|
rs2088480278
|
|
NM_006904.7(PRKDC):c.684C>T (p.Ser228=)
|
|
|
NM_006904.7(PRKDC):c.6858T>C (p.Pro2286=)
|
rs772179135
|
|
NM_006904.7(PRKDC):c.6867C>T (p.Asp2289=)
|
|
|
NM_006904.7(PRKDC):c.6893+15_6893+18del
|
|
|
NM_006904.7(PRKDC):c.6893+4C>G
|
|
|
NM_006904.7(PRKDC):c.6894-16del
|
rs2154500336
|
|
NM_006904.7(PRKDC):c.6904G>A (p.Ala2302Thr)
|
rs2154500334
|
|
NM_006904.7(PRKDC):c.6917A>G (p.Asn2306Ser)
|
rs1437770723
|
|
NM_006904.7(PRKDC):c.6924C>T (p.Ser2308=)
|
rs1051114079
|
|
NM_006904.7(PRKDC):c.6977T>A (p.Ile2326Lys)
|
|
|
NM_006904.7(PRKDC):c.6977T>C (p.Ile2326Thr)
|
|
|
NM_006904.7(PRKDC):c.6989T>C (p.Val2330Ala)
|
|
|
NM_006904.7(PRKDC):c.698A>G (p.Asn233Ser)
|
|
|
NM_006904.7(PRKDC):c.7006-16A>C
|
rs1311497378
|
|
NM_006904.7(PRKDC):c.7021C>T (p.Leu2341=)
|
rs2088354143
|
|
NM_006904.7(PRKDC):c.7024T>C (p.Cys2342Arg)
|
|
|
NM_006904.7(PRKDC):c.7032G>C (p.Leu2344=)
|
|
|
NM_006904.7(PRKDC):c.7036G>A (p.Ala2346Thr)
|
rs1269369121
|
|
NM_006904.7(PRKDC):c.703A>C (p.Thr235Pro)
|
|
|
NM_006904.7(PRKDC):c.7044A>G (p.Gln2348=)
|
|
|
NM_006904.7(PRKDC):c.7061A>G (p.Asn2354Ser)
|
rs2154500207
|
|
NM_006904.7(PRKDC):c.7071G>A (p.Glu2357=)
|
rs991589731
|
|
NM_006904.7(PRKDC):c.7092G>A (p.Leu2364=)
|
rs2154500206
|
|
NM_006904.7(PRKDC):c.7097A>G (p.Lys2366Arg)
|
|
|
NM_006904.7(PRKDC):c.7101G>T (p.Val2367=)
|
|
|
NM_006904.7(PRKDC):c.7110C>T (p.Ser2370=)
|
|
|
NM_006904.7(PRKDC):c.7113C>T (p.Phe2371=)
|
|
|
NM_006904.7(PRKDC):c.7116T>C (p.Pro2372=)
|
|
|
NM_006904.7(PRKDC):c.7127A>G (p.Asp2376Gly)
|
|
|
NM_006904.7(PRKDC):c.712A>C (p.Met238Leu)
|
|
|
NM_006904.7(PRKDC):c.7130+14A>G
|
|
|
NM_006904.7(PRKDC):c.7130+16G>A
|
rs2154500202
|
|
NM_006904.7(PRKDC):c.7131-17G>A
|
|
|
NM_006904.7(PRKDC):c.7131-5G>T
|
rs759566902
|
|
NM_006904.7(PRKDC):c.7131-6C>T
|
|
|
NM_006904.7(PRKDC):c.7158G>T (p.Leu2386=)
|
rs2154500197
|
|
NM_006904.7(PRKDC):c.7169A>C (p.His2390Pro)
|
rs2154500194
|
|
NM_006904.7(PRKDC):c.7176G>A (p.Val2392=)
|
|
|
NM_006904.7(PRKDC):c.7198G>T (p.Val2400Leu)
|
rs2088348342
|
|
NM_006904.7(PRKDC):c.71G>A (p.Arg24His)
|
|
|
NM_006904.7(PRKDC):c.7201G>A (p.Val2401Ile)
|
|
|
NM_006904.7(PRKDC):c.7207T>G (p.Cys2403Gly)
|
rs2154500191
|
|
NM_006904.7(PRKDC):c.721+17C>G
|
|
|
NM_006904.7(PRKDC):c.7211G>A (p.Arg2404His)
|
|
|
NM_006904.7(PRKDC):c.7218G>A (p.Glu2406=)
|
|
|
NM_006904.7(PRKDC):c.722-10A>G
|
|
|
NM_006904.7(PRKDC):c.722-6C>G
|
|
|
NM_006904.7(PRKDC):c.7245A>G (p.Leu2415=)
|
rs2154500189
|
|
NM_006904.7(PRKDC):c.724C>G (p.Pro242Ala)
|
|
|
NM_006904.7(PRKDC):c.7256A>G (p.Asp2419Gly)
|
|
|
NM_006904.7(PRKDC):c.7280+7G>A
|
|
|
NM_006904.7(PRKDC):c.7281-10_7281-7del
|
rs1263490313
|
|
NM_006904.7(PRKDC):c.7281-12TC[2]
|
rs1263490313
|
|
NM_006904.7(PRKDC):c.7323G>A (p.Lys2441=)
|
rs905837735
|
|
NM_006904.7(PRKDC):c.7344A>G (p.Pro2448=)
|
|
|
NM_006904.7(PRKDC):c.7348G>C (p.Glu2450Gln)
|
|
|
NM_006904.7(PRKDC):c.7356A>G (p.Arg2452=)
|
|
|
NM_006904.7(PRKDC):c.7363C>T (p.Leu2455=)
|
rs2154499868
|
|
NM_006904.7(PRKDC):c.7365G>C (p.Leu2455=)
|
rs369504501
|
|
NM_006904.7(PRKDC):c.7369C>G (p.Pro2457Ala)
|
|
|
NM_006904.7(PRKDC):c.7373T>C (p.Val2458Ala)
|
rs1464381833
|
|
NM_006904.7(PRKDC):c.7377G>A (p.Val2459=)
|
|
|
NM_006904.7(PRKDC):c.7380A>G (p.Glu2460=)
|
rs2154499866
|
|
NM_006904.7(PRKDC):c.7383C>T (p.Phe2461=)
|
rs761453930
|
|
NM_006904.7(PRKDC):c.7399A>G (p.Thr2467Ala)
|
|
|
NM_006904.7(PRKDC):c.739G>C (p.Glu247Gln)
|
|
|
NM_006904.7(PRKDC):c.7427T>C (p.Ile2476Thr)
|
rs2154499862
|
|
NM_006904.7(PRKDC):c.7454+11C>T
|
|
|
NM_006904.7(PRKDC):c.7454+19A>G
|
|
|
NM_006904.7(PRKDC):c.7454+19_7454+20del
|
rs8178175
|
|
NM_006904.7(PRKDC):c.7455-11_7455-10del
|
rs547740174
|
|
NM_006904.7(PRKDC):c.7455-14G>T
|
rs757106013
|
|
NM_006904.7(PRKDC):c.7455-15T>C
|
|
|
NM_006904.7(PRKDC):c.7455-2A>G
|
rs1367890747
|
|
NM_006904.7(PRKDC):c.7455-6A>C
|
rs753597047
|
|
NM_006904.7(PRKDC):c.7465A>G (p.Ser2489Gly)
|
rs2088091237
|
|
NM_006904.7(PRKDC):c.7474G>C (p.Asp2492His)
|
rs2088091052
|
|
NM_006904.7(PRKDC):c.7518G>C (p.Leu2506=)
|
rs990430158
|
|
NM_006904.7(PRKDC):c.7553+13C>T
|
|
|
NM_006904.7(PRKDC):c.7554-16del
|
|
|
NM_006904.7(PRKDC):c.7554-9G>A
|
rs1427010681
|
|
NM_006904.7(PRKDC):c.7600A>G (p.Asn2534Asp)
|
rs1589732127
|
|
NM_006904.7(PRKDC):c.7610A>G (p.Asp2537Gly)
|
|
|
NM_006904.7(PRKDC):c.7617G>A (p.Leu2539=)
|
|
|
NM_006904.7(PRKDC):c.7624C>G (p.Leu2542Val)
|
|
|
NM_006904.7(PRKDC):c.7633T>G (p.Leu2545Val)
|
rs2088049317
|
|
NM_006904.7(PRKDC):c.7635A>T (p.Leu2545Phe)
|
rs2088049252
|
|
NM_006904.7(PRKDC):c.7652A>T (p.Glu2551Val)
|
rs2088048731
|
|
NM_006904.7(PRKDC):c.766A>G (p.Ile256Val)
|
|
|
NM_006904.7(PRKDC):c.7677A>G (p.Thr2559=)
|
|
|
NM_006904.7(PRKDC):c.7686G>C (p.Leu2562=)
|
rs1288775489
|
|
NM_006904.7(PRKDC):c.7689C>T (p.Leu2563=)
|
|
|
NM_006904.7(PRKDC):c.7699A>G (p.Ser2567Gly)
|
rs2154499772
|
|
NM_006904.7(PRKDC):c.7708C>T (p.Pro2570Ser)
|
|
|
NM_006904.7(PRKDC):c.7716T>C (p.Tyr2572=)
|
|
|
NM_006904.7(PRKDC):c.7724C>T (p.Pro2575Leu)
|
rs1234764397
|
|
NM_006904.7(PRKDC):c.7733A>G (p.Glu2578Gly)
|
rs2154499767
|
|
NM_006904.7(PRKDC):c.7761+10T>C
|
rs1481895843
|
|
NM_006904.7(PRKDC):c.7761+13TC[3]
|
|
|
NM_006904.7(PRKDC):c.7761+16C>T
|
|
|
NM_006904.7(PRKDC):c.7761+19T>C
|
|
|
NM_006904.7(PRKDC):c.7761+20C>T
|
rs2154499763
|
|
NM_006904.7(PRKDC):c.7761+9G>T
|
rs1589731906
|
|
NM_006904.7(PRKDC):c.7762-16A>G
|
|
|
NM_006904.7(PRKDC):c.7762-18A>G
|
rs2154499722
|
|
NM_006904.7(PRKDC):c.7762-28_7762-12del
|
|
|
NM_006904.7(PRKDC):c.7762-7T>C
|
|
|
NM_006904.7(PRKDC):c.777+16C>G
|
rs2154504163
|
|
NM_006904.7(PRKDC):c.778-15T>G
|
|
|
NM_006904.7(PRKDC):c.778-20A>T
|
rs988564237
|
|
NM_006904.7(PRKDC):c.778-9C>G
|
|
|
NM_006904.7(PRKDC):c.7810C>G (p.Pro2604Ala)
|
|
|
NM_006904.7(PRKDC):c.7811C>T (p.Pro2604Leu)
|
rs766376359
|
|
NM_006904.7(PRKDC):c.7819G>T (p.Val2607Leu)
|
|
|
NM_006904.7(PRKDC):c.7862A>C (p.Gln2621Pro)
|
|
|
NM_006904.7(PRKDC):c.7869G>A (p.Gly2623=)
|
rs2154499713
|
|
NM_006904.7(PRKDC):c.7883G>A (p.Arg2628His)
|
rs572835600
|
|
NM_006904.7(PRKDC):c.7890A>G (p.Pro2630=)
|
rs371778650
|
|
NM_006904.7(PRKDC):c.7902G>A (p.Gln2634=)
|
|
|
NM_006904.7(PRKDC):c.7951+18C>G
|
|
|
NM_006904.7(PRKDC):c.7951+19G>A
|
|
|
NM_006904.7(PRKDC):c.7951+19G>T
|
|
|
NM_006904.7(PRKDC):c.7951+5C>T
|
|
|
NM_006904.7(PRKDC):c.7951+6A>G
|
rs759390857
|
|
NM_006904.7(PRKDC):c.7952-10C>A
|
rs750567576
|
|
NM_006904.7(PRKDC):c.7952-20T>G
|
|
|
NM_006904.7(PRKDC):c.7952-5C>T
|
|
|
NM_006904.7(PRKDC):c.7952-6_7952-5delinsAT
|
|
|
NM_006904.7(PRKDC):c.7952A>G (p.Asp2651Gly)
|
|
|
NM_006904.7(PRKDC):c.7959A>G (p.Arg2653=)
|
rs2154499619
|
|
NM_006904.7(PRKDC):c.7962C>T (p.Ser2654=)
|
rs1563758541
|
|
NM_006904.7(PRKDC):c.7980C>T (p.Thr2660=)
|
|
|
NM_006904.7(PRKDC):c.7981G>C (p.Gly2661Arg)
|
|
|
NM_006904.7(PRKDC):c.798T>C (p.Ala266=)
|
rs2154504158
|
|
NM_006904.7(PRKDC):c.7998G>A (p.Pro2666=)
|
|
|
NM_006904.7(PRKDC):c.8004C>A (p.Val2668=)
|
|
|
NM_006904.7(PRKDC):c.8004C>G (p.Val2668=)
|
rs140123272
|
|
NM_006904.7(PRKDC):c.8004C>T (p.Val2668=)
|
rs140123272
|
|
NM_006904.7(PRKDC):c.8013C>G (p.Thr2671=)
|
|
|
NM_006904.7(PRKDC):c.8047A>G (p.Lys2683Glu)
|
rs2087956183
|
|
NM_006904.7(PRKDC):c.8049G>A (p.Lys2683=)
|
rs2087956090
|
|
NM_006904.7(PRKDC):c.8061G>T (p.Arg2687Ser)
|
rs1563758449
|
|
NM_006904.7(PRKDC):c.8064A>G (p.Leu2688=)
|
rs559047437
|
|
NM_006904.7(PRKDC):c.8077T>C (p.Leu2693=)
|
|
|
NM_006904.7(PRKDC):c.808+9_808+10del
|
|
|
NM_006904.7(PRKDC):c.809-14A>G
|
|
|
NM_006904.7(PRKDC):c.809-15C>T
|
|
|
NM_006904.7(PRKDC):c.809-16G>A
|
|
|
NM_006904.7(PRKDC):c.809-19A>G
|
|
|
NM_006904.7(PRKDC):c.809-7T>C
|
|
|
NM_006904.7(PRKDC):c.8093C>G (p.Pro2698Arg)
|
|
|
NM_006904.7(PRKDC):c.810T>C (p.Ala270=)
|
|
|
NM_006904.7(PRKDC):c.8129A>G (p.Asp2710Gly)
|
rs2154499602
|
|
NM_006904.7(PRKDC):c.8130C>G (p.Asp2710Glu)
|
|
|
NM_006904.7(PRKDC):c.8130C>T (p.Asp2710=)
|
rs370260992
|
|
NM_006904.7(PRKDC):c.8135T>G (p.Val2712Gly)
|
rs2154499601
|
|
NM_006904.7(PRKDC):c.8148G>A (p.Val2716=)
|
rs1257751105
|
|
NM_006904.7(PRKDC):c.8152+15T>C
|
|
|
NM_006904.7(PRKDC):c.8152G>A (p.Gly2718Ser)
|
|
|
NM_006904.7(PRKDC):c.8153-10C>G
|
rs1309929519
|
|
NM_006904.7(PRKDC):c.8153-8C>T
|
rs780102495
|
|
NM_006904.7(PRKDC):c.8153G>A (p.Gly2718Asp)
|
rs758251444
|
|
NM_006904.7(PRKDC):c.8156C>T (p.Ala2719Val)
|
rs1003852402
|
|
NM_006904.7(PRKDC):c.8157G>A (p.Ala2719=)
|
|
|
NM_006904.7(PRKDC):c.8160C>T (p.Ala2720=)
|
|
|
NM_006904.7(PRKDC):c.8164C>G (p.Arg2722Gly)
|
rs753541454
|
|
NM_006904.7(PRKDC):c.8165G>A (p.Arg2722Gln)
|
|
|
NM_006904.7(PRKDC):c.8167A>C (p.Thr2723Pro)
|
rs371797273
|
|
NM_006904.7(PRKDC):c.8169G>A (p.Thr2723=)
|
rs2154499479
|
|
NM_006904.7(PRKDC):c.8185C>T (p.Arg2729Cys)
|
|
|
NM_006904.7(PRKDC):c.818G>A (p.Arg273His)
|
|
|
NM_006904.7(PRKDC):c.8192G>A (p.Arg2731Gln)
|
rs773606420
|
|
NM_006904.7(PRKDC):c.8194T>A (p.Phe2732Ile)
|
|
|
NM_006904.7(PRKDC):c.8203G>T (p.Asp2735Tyr)
|
|
|
NM_006904.7(PRKDC):c.8242G>A (p.Val2748Ile)
|
|
|
NM_006904.7(PRKDC):c.8253A>T (p.Gln2751His)
|
|
|
NM_006904.7(PRKDC):c.8255A>T (p.Lys2752Ile)
|
rs1406581738
|
|
NM_006904.7(PRKDC):c.8259A>G (p.Arg2753=)
|
rs2087884319
|
|
NM_006904.7(PRKDC):c.8262G>C (p.Glu2754Asp)
|
|
|
NM_006904.7(PRKDC):c.8262G>T (p.Glu2754Asp)
|
|
|
NM_006904.7(PRKDC):c.8263_8265del (p.Lys2755del)
|
|
|
NM_006904.7(PRKDC):c.8264A>C (p.Lys2755Thr)
|
|
|
NM_006904.7(PRKDC):c.8265+5G>C
|
rs376002667
|
|
NM_006904.7(PRKDC):c.8266-10G>T
|
rs187781588
|
|
NM_006904.7(PRKDC):c.8266-16G>T
|
rs1345012856
|
|
NM_006904.7(PRKDC):c.8266-27CTT[2]
|
rs768176958
|
|
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=)
|
rs148855050
|
|
NM_006904.7(PRKDC):c.8274G>C (p.Lys2758Asn)
|
|
|
NM_006904.7(PRKDC):c.8296G>T (p.Asp2766Tyr)
|
|
|
NM_006904.7(PRKDC):c.829C>G (p.Leu277Val)
|
|
|
NM_006904.7(PRKDC):c.8320A>G (p.Ser2774Gly)
|
|
|
NM_006904.7(PRKDC):c.8325C>T (p.Tyr2775=)
|
rs2154499402
|
|
NM_006904.7(PRKDC):c.8327G>A (p.Arg2776Gln)
|
rs1484079903
|
|
NM_006904.7(PRKDC):c.8328G>T (p.Arg2776=)
|
rs2154499401
|
|
NM_006904.7(PRKDC):c.8330A>G (p.His2777Arg)
|
|
|
NM_006904.7(PRKDC):c.8337C>A (p.Asp2779Glu)
|
|
|
NM_006904.7(PRKDC):c.8338C>T (p.Leu2780Phe)
|
|
|
NM_006904.7(PRKDC):c.8343T>C (p.Pro2781=)
|
|
|
NM_006904.7(PRKDC):c.8371A>G (p.Ile2791Val)
|
rs776638945
|
|
NM_006904.7(PRKDC):c.8373C>T (p.Ile2791=)
|
|
|
NM_006904.7(PRKDC):c.8376C>T (p.Thr2792=)
|
|
|
NM_006904.7(PRKDC):c.8378C>T (p.Pro2793Leu)
|
rs2087844135
|
|
NM_006904.7(PRKDC):c.837A>G (p.Ala279=)
|
rs2090476977
|
|
NM_006904.7(PRKDC):c.8383C>A (p.Gln2795Lys)
|
rs2087843877
|
|
NM_006904.7(PRKDC):c.8388C>G (p.Ala2796=)
|
|
|
NM_006904.7(PRKDC):c.8397+18C>T
|
|
|
NM_006904.7(PRKDC):c.8397+4A>G
|
|
|
NM_006904.7(PRKDC):c.8398-10T>C
|
|
|
NM_006904.7(PRKDC):c.8420A>T (p.Gln2807Leu)
|
rs376185837
|
|
NM_006904.7(PRKDC):c.8421G>A (p.Gln2807=)
|
|
|
NM_006904.7(PRKDC):c.8427T>C (p.Phe2809=)
|
|
|
NM_006904.7(PRKDC):c.8432G>T (p.Ser2811Ile)
|
|
|
NM_006904.7(PRKDC):c.8444G>A (p.Gly2815Glu)
|
|
|
NM_006904.7(PRKDC):c.8447T>G (p.Ile2816Ser)
|
rs544979397
|
|
NM_006904.7(PRKDC):c.8466A>G (p.Lys2822=)
|
|
|
NM_006904.7(PRKDC):c.8469T>G (p.Phe2823Leu)
|
rs2087782957
|
|
NM_006904.7(PRKDC):c.849C>A (p.Ser283Arg)
|
|
|
NM_006904.7(PRKDC):c.8502A>C (p.Gln2834His)
|
rs2154499282
|
|
NM_006904.7(PRKDC):c.8514A>G (p.Gln2838=)
|
|
|
NM_006904.7(PRKDC):c.8535T>A (p.Asn2845Lys)
|
|
|
NM_006904.7(PRKDC):c.8538C>T (p.Thr2846=)
|
|
|
NM_006904.7(PRKDC):c.8553T>C (p.Phe2851=)
|
rs2154499278
|
|
NM_006904.7(PRKDC):c.8577+8C>G
|
rs2154499276
|
|
NM_006904.7(PRKDC):c.8578-18G>C
|
|
|
NM_006904.7(PRKDC):c.8620G>C (p.Ala2874Pro)
|
rs2154499228
|
|
NM_006904.7(PRKDC):c.8622G>A (p.Ala2874=)
|
|
|
NM_006904.7(PRKDC):c.8625T>C (p.Ala2875=)
|
|
|
NM_006904.7(PRKDC):c.8631C>T (p.Ser2877=)
|
|
|
NM_006904.7(PRKDC):c.8632G>A (p.Ala2878Thr)
|
|
|
NM_006904.7(PRKDC):c.8636G>A (p.Gly2879Asp)
|
|
|
NM_006904.7(PRKDC):c.8639G>A (p.Cys2880Tyr)
|
|
|
NM_006904.7(PRKDC):c.863A>T (p.Asp288Val)
|
|
|
NM_006904.7(PRKDC):c.8644G>A (p.Ala2882Thr)
|
rs2154499225
|
|
NM_006904.7(PRKDC):c.8646C>T (p.Ala2882=)
|
|
|
NM_006904.7(PRKDC):c.8658G>A (p.Gln2886=)
|
|
|
NM_006904.7(PRKDC):c.8661C>A (p.Pro2887=)
|
|
|
NM_006904.7(PRKDC):c.8662G>A (p.Val2888Met)
|
rs185741285
|
|
NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu)
|
rs185741285
|
|
NM_006904.7(PRKDC):c.8662G>T (p.Val2888Leu)
|
rs185741285
|
|
NM_006904.7(PRKDC):c.8664G>A (p.Val2888=)
|
|
|
NM_006904.7(PRKDC):c.8671C>G (p.Arg2891Gly)
|
|
|
NM_006904.7(PRKDC):c.8671C>T (p.Arg2891Cys)
|
rs565638844
|
|
NM_006904.7(PRKDC):c.8672G>A (p.Arg2891His)
|
|
|
NM_006904.7(PRKDC):c.8685G>A (p.Glu2895=)
|
rs547408689
|
|
NM_006904.7(PRKDC):c.870C>T (p.Tyr290=)
|
|
|
NM_006904.7(PRKDC):c.8725C>A (p.Arg2909=)
|
|
|
NM_006904.7(PRKDC):c.8744G>C (p.Arg2915Pro)
|
|
|
NM_006904.7(PRKDC):c.8745C>T (p.Arg2915=)
|
|
|
NM_006904.7(PRKDC):c.8767T>C (p.Trp2923Arg)
|
rs1589724169
|
|
NM_006904.7(PRKDC):c.8770G>A (p.Val2924Met)
|
rs2154499220
|
|
NM_006904.7(PRKDC):c.8783+15dup
|
|
|
NM_006904.7(PRKDC):c.8783+17del
|
|
|
NM_006904.7(PRKDC):c.8784-19T>A
|
|
|
NM_006904.7(PRKDC):c.8819G>A (p.Arg2940His)
|
rs372587440
|
|
NM_006904.7(PRKDC):c.8823G>A (p.Gly2941=)
|
|
|
NM_006904.7(PRKDC):c.8842G>A (p.Gly2948Arg)
|
rs2154499121
|
|
NM_006904.7(PRKDC):c.8862_8863delinsAG (p.Ser2955Gly)
|
|
|
NM_006904.7(PRKDC):c.8878G>C (p.Glu2960Gln)
|
|
|
NM_006904.7(PRKDC):c.888C>T (p.Val296=)
|
|
|
NM_006904.7(PRKDC):c.8890G>A (p.Asp2964Asn)
|
rs2154499118
|
|
NM_006904.7(PRKDC):c.8910G>A (p.Lys2970=)
|
|
|
NM_006904.7(PRKDC):c.8922+10A>G
|
|
|
NM_006904.7(PRKDC):c.8922+5A>G
|
|
|
NM_006904.7(PRKDC):c.8923-18T>A
|
rs996319313
|
|
NM_006904.7(PRKDC):c.8927T>G (p.Leu2976Arg)
|
|
|
NM_006904.7(PRKDC):c.8930A>G (p.Asn2977Ser)
|
|
|
NM_006904.7(PRKDC):c.8935C>G (p.Gln2979Glu)
|
|
|
NM_006904.7(PRKDC):c.8961A>G (p.Thr2987=)
|
|
|
NM_006904.7(PRKDC):c.8968G>A (p.Glu2990Lys)
|
rs1348588252
|
|
NM_006904.7(PRKDC):c.8995C>T (p.Leu2999Phe)
|
|
|
NM_006904.7(PRKDC):c.900G>C (p.Trp300Cys)
|
rs2154504133
|
|
NM_006904.7(PRKDC):c.9047C>T (p.Thr3016Ile)
|
|
|
NM_006904.7(PRKDC):c.9078C>T (p.Asp3026=)
|
|
|
NM_006904.7(PRKDC):c.9083A>G (p.Asn3028Ser)
|
|
|
NM_006904.7(PRKDC):c.9094_9100delinsTTCA (p.Ser3032_Pro3034delinsPheThr)
|
rs2154499029
|
|
NM_006904.7(PRKDC):c.909C>T (p.His303=)
|
|
|
NM_006904.7(PRKDC):c.90C>T (p.Ala30=)
|
|
|
NM_006904.7(PRKDC):c.9107A>G (p.Tyr3036Cys)
|
|
|
NM_006904.7(PRKDC):c.9111+13A>T
|
|
|
NM_006904.7(PRKDC):c.9111+14T>C
|
|
|
NM_006904.7(PRKDC):c.9111+17T>G
|
|
|
NM_006904.7(PRKDC):c.9111+5del
|
rs2087597154
|
|
NM_006904.7(PRKDC):c.9111G>A (p.Gln3037=)
|
|
|
NM_006904.7(PRKDC):c.9112-19A>G
|
|
|
NM_006904.7(PRKDC):c.9112-7T>G
|
rs2154498997
|
|
NM_006904.7(PRKDC):c.9117A>G (p.Thr3039=)
|
|
|
NM_006904.7(PRKDC):c.9120T>C (p.Tyr3040=)
|
|
|
NM_006904.7(PRKDC):c.9121C>T (p.Leu3041=)
|
rs2154498994
|
|
NM_006904.7(PRKDC):c.9122T>A (p.Leu3041Gln)
|
|
|
NM_006904.7(PRKDC):c.9130A>G (p.Met3044Val)
|
|
|
NM_006904.7(PRKDC):c.9139A>G (p.Ser3047Gly)
|
|
|
NM_006904.7(PRKDC):c.9153G>A (p.Leu3051=)
|
|
|
NM_006904.7(PRKDC):c.9159C>T (p.Leu3053=)
|
|
|
NM_006904.7(PRKDC):c.915T>C (p.Asn305=)
|
rs2154504130
|
|
NM_006904.7(PRKDC):c.9161A>G (p.Gln3054Arg)
|
|
|
NM_006904.7(PRKDC):c.9164G>A (p.Gly3055Glu)
|
rs754104095
|
|
NM_006904.7(PRKDC):c.9167A>G (p.Glu3056Gly)
|
rs2154498990
|
|
NM_006904.7(PRKDC):c.916G>A (p.Val306Ile)
|
rs2154504129
|
|
NM_006904.7(PRKDC):c.9185T>G (p.Leu3062Arg)
|
rs587777685
|
|
NM_006904.7(PRKDC):c.9211G>A (p.Gly3071Arg)
|
rs376953418
|
|
NM_006904.7(PRKDC):c.9242A>T (p.His3081Leu)
|
rs2087575281
|
|
NM_006904.7(PRKDC):c.9243T>C (p.His3081=)
|
rs757686230
|
|
NM_006904.7(PRKDC):c.9286G>A (p.Val3096Ile)
|
|
|
NM_006904.7(PRKDC):c.9287T>A (p.Val3096Asp)
|
rs2087573873
|
|
NM_006904.7(PRKDC):c.9307A>G (p.Ile3103Val)
|
rs2154498984
|
|
NM_006904.7(PRKDC):c.9327T>G (p.Ser3109Arg)
|
|
|
NM_006904.7(PRKDC):c.9329T>G (p.Phe3110Cys)
|
|
|
NM_006904.7(PRKDC):c.9332T>C (p.Met3111Thr)
|
|
|
NM_006904.7(PRKDC):c.9336+14_9336+15insA
|
rs1397538360
|
|
NM_006904.7(PRKDC):c.9336+15del
|
|
|
NM_006904.7(PRKDC):c.9336+5T>C
|
|
|
NM_006904.7(PRKDC):c.9336+7C>T
|
|
|
NM_006904.7(PRKDC):c.9337-11_9337-10insG
|
|
|
NM_006904.7(PRKDC):c.9337-15_9337-4del
|
rs11311765
|
|
NM_006904.7(PRKDC):c.9337-5T>A
|
|
|
NM_006904.7(PRKDC):c.9337-5_9337-4del
|
rs11311765
|
|
NM_006904.7(PRKDC):c.9345T>C (p.Ser3115=)
|
rs764031635
|
|
NM_006904.7(PRKDC):c.9366C>G (p.His3122Gln)
|
|
|
NM_006904.7(PRKDC):c.9380C>A (p.Thr3127Asn)
|
|
|
NM_006904.7(PRKDC):c.9385T>C (p.Leu3129=)
|
rs763470988
|
|
NM_006904.7(PRKDC):c.939T>G (p.Leu313=)
|
|
|
NM_006904.7(PRKDC):c.9405A>G (p.Leu3135=)
|
rs1236788598
|
|
NM_006904.7(PRKDC):c.9412A>G (p.Ile3138Val)
|
|
|
NM_006904.7(PRKDC):c.9438C>T (p.Ser3146=)
|
|
|
NM_006904.7(PRKDC):c.9443A>G (p.Gln3148Arg)
|
|
|
NM_006904.7(PRKDC):c.9445+10T>A
|
rs2154498916
|
|
NM_006904.7(PRKDC):c.9445+11T>C
|
|
|
NM_006904.7(PRKDC):c.9445+12C>T
|
|
|
NM_006904.7(PRKDC):c.9445+15C>T
|
|
|
NM_006904.7(PRKDC):c.9445+16G>A
|
|
|
NM_006904.7(PRKDC):c.9445+16G>T
|
rs755999101
|
|
NM_006904.7(PRKDC):c.9445+18T>C
|
|
|
NM_006904.7(PRKDC):c.9445+19C>T
|
|
|
NM_006904.7(PRKDC):c.9445+9T>C
|
|
|
NM_006904.7(PRKDC):c.9446-3T>C
|
|
|
NM_006904.7(PRKDC):c.944C>G (p.Ala315Gly)
|
rs2154504126
|
|
NM_006904.7(PRKDC):c.9487A>G (p.Thr3163Ala)
|
rs1274051157
|
|
NM_006904.7(PRKDC):c.9524C>T (p.Pro3175Leu)
|
|
|
NM_006904.7(PRKDC):c.9533T>G (p.Ile3178Ser)
|
|
|
NM_006904.7(PRKDC):c.9543C>T (p.Asp3181=)
|
rs1330672556
|
|
NM_006904.7(PRKDC):c.9554A>G (p.Asn3185Ser)
|
rs531831112
|
|
NM_006904.7(PRKDC):c.9557+18dup
|
|
|
NM_006904.7(PRKDC):c.9558-15T>C
|
|
|
NM_006904.7(PRKDC):c.9558A>G (p.Arg3186=)
|
rs1395770181
|
|
NM_006904.7(PRKDC):c.9558A>T (p.Arg3186=)
|
rs1395770181
|
|
NM_006904.7(PRKDC):c.9560G>C (p.Cys3187Ser)
|
|
|
NM_006904.7(PRKDC):c.9570C>G (p.Leu3190=)
|
|
|
NM_006904.7(PRKDC):c.9570C>T (p.Leu3190=)
|
|
|
NM_006904.7(PRKDC):c.9572G>A (p.Ser3191Asn)
|
|
|
NM_006904.7(PRKDC):c.9633T>G (p.Asp3211Glu)
|
rs2154498488
|
|
NM_006904.7(PRKDC):c.966+20C>G
|
rs781539322
|
|
NM_006904.7(PRKDC):c.967-15A>G
|
|
|
NM_006904.7(PRKDC):c.9676G>A (p.Asp3226Asn)
|
|
|
NM_006904.7(PRKDC):c.9693C>A (p.Ile3231=)
|
rs759916434
|
|
NM_006904.7(PRKDC):c.9697A>C (p.Ser3233Arg)
|
|
|
NM_006904.7(PRKDC):c.9704A>G (p.Lys3235Arg)
|
rs1209767774
|
|
NM_006904.7(PRKDC):c.9705G>A (p.Lys3235=)
|
|
|
NM_006904.7(PRKDC):c.9711C>T (p.Ser3237=)
|
|
|
NM_006904.7(PRKDC):c.9712A>G (p.Met3238Val)
|
|
|
NM_006904.7(PRKDC):c.9724A>T (p.Met3242Leu)
|
rs775383563
|
|
NM_006904.7(PRKDC):c.9738C>G (p.Ala3246=)
|
|
|
NM_006904.7(PRKDC):c.9747+11G>A
|
|
|
NM_006904.7(PRKDC):c.9747+9T>G
|
|
|
NM_006904.7(PRKDC):c.974A>T (p.Asn325Ile)
|
rs1478254467
|
|
NM_006904.7(PRKDC):c.9777G>A (p.Leu3259=)
|
|
|
NM_006904.7(PRKDC):c.9783G>A (p.Glu3261=)
|
rs772972161
|
|
NM_006904.7(PRKDC):c.9783G>T (p.Glu3261Asp)
|
rs772972161
|
|
NM_006904.7(PRKDC):c.9786G>A (p.Leu3262=)
|
|
|
NM_006904.7(PRKDC):c.9788A>C (p.His3263Pro)
|
|
|
NM_006904.7(PRKDC):c.9788A>G (p.His3263Arg)
|
rs1197823539
|
|
NM_006904.7(PRKDC):c.9800A>G (p.Lys3267Arg)
|
|
|
NM_006904.7(PRKDC):c.9803C>G (p.Thr3268Ser)
|
|
|
NM_006904.7(PRKDC):c.9806G>A (p.Arg3269Lys)
|
|
|
NM_006904.7(PRKDC):c.9807A>G (p.Arg3269=)
|
|
|
NM_006904.7(PRKDC):c.9810C>T (p.Asp3270=)
|
rs1361121924
|
|
NM_006904.7(PRKDC):c.9837C>T (p.Ser3279=)
|
rs2154498352
|
|
NM_006904.7(PRKDC):c.983C>G (p.Ala328Gly)
|
rs769059077
|
|
NM_006904.7(PRKDC):c.9845G>T (p.Arg3282Leu)
|
rs758666662
|
|
NM_006904.7(PRKDC):c.9853C>T (p.His3285Tyr)
|
|
|
NM_006904.7(PRKDC):c.9865C>T (p.Arg3289Trp)
|
rs757415778
|
|
NM_006904.7(PRKDC):c.9866G>A (p.Arg3289Gln)
|
|
|
NM_006904.7(PRKDC):c.9870C>A (p.Ser3290=)
|
rs759540759
|
|
NM_006904.7(PRKDC):c.9878G>T (p.Cys3293Phe)
|
rs2154498351
|
|
NM_006904.7(PRKDC):c.9897T>C (p.Thr3299=)
|
|
|
NM_006904.7(PRKDC):c.9903G>A (p.Leu3301=)
|
|
|
NM_006904.7(PRKDC):c.9922+7T>C
|
|
|
NM_006904.7(PRKDC):c.9923-17dup
|
rs573568510
|
|
NM_006904.7(PRKDC):c.9923-18_9923-12del
|
|
|
NM_006904.7(PRKDC):c.9923-19T>G
|
|
|
NM_006904.7(PRKDC):c.9923-28GTTTT[2]
|
rs576649177
|
|
NM_006904.7(PRKDC):c.9923-6C>T
|
rs1396647693
|
|
NM_006904.7(PRKDC):c.9923-7C>T
|
|
|
NM_006904.7(PRKDC):c.9930C>T (p.Asn3310=)
|
rs2154498233
|
|
NM_006904.7(PRKDC):c.9932A>G (p.Asn3311Ser)
|
rs2087095377
|
|
NM_006904.7(PRKDC):c.9936G>A (p.Val3312=)
|
|
|
NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs)
|
rs1589705455
|
|
NM_006904.7(PRKDC):c.9941G>A (p.Ser3314Asn)
|
|
|
NM_006904.7(PRKDC):c.9943T>C (p.Tyr3315His)
|
rs2087094692
|
|
NM_006904.7(PRKDC):c.9947T>C (p.Leu3316Ser)
|
rs2154498231
|
|
NM_006904.7(PRKDC):c.9963G>A (p.Leu3321=)
|
rs1283705549
|
|
NM_006904.7(PRKDC):c.9966T>G (p.Ala3322=)
|
rs1589705432
|
|
NM_006904.7(PRKDC):c.9971G>A (p.Arg3324His)
|
|
|
NM_006904.7(PRKDC):c.9981C>A (p.Asn3327Lys)
|
|
|
NM_006904.7(PRKDC):c.9985C>T (p.Leu3329Phe)
|
rs2087093925
|
|
NM_024715.4(TXNDC15):c.703C>T (p.Arg235Trp)
|
|
|
NM_024782.3(NHEJ1):c.108G>C (p.Leu36Phe)
|
rs2106369733
|
|
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs)
|
rs886037607
|
|
NM_024782.3(NHEJ1):c.122T>G (p.Leu41Arg)
|
|
|
NM_024782.3(NHEJ1):c.123T>G (p.Leu41=)
|
|
|
NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)
|
|
|
NM_024782.3(NHEJ1):c.13G>A (p.Glu5Lys)
|
|
|
NM_024782.3(NHEJ1):c.150C>T (p.Asp50=)
|
|
|
NM_024782.3(NHEJ1):c.151A>G (p.Thr51Ala)
|
|
|
NM_024782.3(NHEJ1):c.15G>A (p.Glu5=)
|
|
|
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly)
|
rs118204451
|
|
NM_024782.3(NHEJ1):c.177+15A>C
|
|
|
NM_024782.3(NHEJ1):c.177+1G>A
|
|
|
NM_024782.3(NHEJ1):c.177+1_177+3delinsTT
|
rs886037606
|
|
NM_024782.3(NHEJ1):c.177G>A (p.Lys59=)
|
rs756996341
|
|
NM_024782.3(NHEJ1):c.178-11T>C
|
rs1335578048
|
|
NM_024782.3(NHEJ1):c.178-1G>A
|
rs1949868667
|
|
NM_024782.3(NHEJ1):c.178-6C>G
|
|
|
NM_024782.3(NHEJ1):c.191G>A (p.Arg64Gln)
|
|
|
NM_024782.3(NHEJ1):c.200C>G (p.Ala67Gly)
|
|
|
NM_024782.3(NHEJ1):c.205C>A (p.Pro69Thr)
|
|
|
NM_024782.3(NHEJ1):c.219C>A (p.Leu73=)
|
|
|
NM_024782.3(NHEJ1):c.219C>G (p.Leu73=)
|
rs144535601
|
|
NM_024782.3(NHEJ1):c.230A>G (p.Asp77Gly)
|
|
|
NM_024782.3(NHEJ1):c.238C>T (p.Leu80Phe)
|
|
|
NM_024782.3(NHEJ1):c.246A>G (p.Pro82=)
|
|
|
NM_024782.3(NHEJ1):c.24G>A (p.Leu8=)
|
|
|
NM_024782.3(NHEJ1):c.270T>C (p.Pro90=)
|
|
|
NM_024782.3(NHEJ1):c.294T>C (p.Asp98=)
|
|
|
NM_024782.3(NHEJ1):c.329G>C (p.Ser110Thr)
|
|
|
NM_024782.3(NHEJ1):c.346C>G (p.Pro116Ala)
|
rs1024943702
|
|
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.369C>T (p.Cys123=)
|
|
|
NM_024782.3(NHEJ1):c.381T>C (p.Ser127=)
|
|
|
NM_024782.3(NHEJ1):c.390+1G>A
|
|
|
NM_024782.3(NHEJ1):c.390+9A>G
|
|
|
NM_024782.3(NHEJ1):c.401A>G (p.His134Arg)
|
rs2106362378
|
|
NM_024782.3(NHEJ1):c.42G>A (p.Ala14=)
|
rs1307549197
|
|
NM_024782.3(NHEJ1):c.42G>T (p.Ala14=)
|
|
|
NM_024782.3(NHEJ1):c.438A>G (p.Leu146=)
|
rs2106362357
|
|
NM_024782.3(NHEJ1):c.457C>T (p.Leu153=)
|
|
|
NM_024782.3(NHEJ1):c.460G>A (p.Ala154Thr)
|
|
|
NM_024782.3(NHEJ1):c.469C>T (p.Leu157Phe)
|
rs2106362310
|
|
NM_024782.3(NHEJ1):c.475A>G (p.Met159Val)
|
|
|
NM_024782.3(NHEJ1):c.499T>C (p.Tyr167His)
|
rs762584679
|
|
NM_024782.3(NHEJ1):c.500A>G (p.Tyr167Cys)
|
|
|
NM_024782.3(NHEJ1):c.506A>G (p.Glu169Gly)
|
rs1244437243
|
|
NM_024782.3(NHEJ1):c.513G>C (p.Gly171=)
|
rs759426248
|
|
NM_024782.3(NHEJ1):c.513G>T (p.Gly171=)
|
rs759426248
|
|
NM_024782.3(NHEJ1):c.518C>T (p.Thr173Met)
|
|
|
NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)
|
|
|
NM_024782.3(NHEJ1):c.529+11A>G
|
rs2106362226
|
|
NM_024782.3(NHEJ1):c.529+18G>C
|
|
|
NM_024782.3(NHEJ1):c.529+1G>A
|
rs146783338
|
|
NM_024782.3(NHEJ1):c.52C>G (p.Leu18Val)
|
rs2106369790
|
|
NM_024782.3(NHEJ1):c.530-1G>A
|
rs1481152382
|
|
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.547C>T (p.Pro183Ser)
|
rs372722590
|
|
NM_024782.3(NHEJ1):c.553G>A (p.Glu185Lys)
|
rs2106361576
|
|
NM_024782.3(NHEJ1):c.558A>G (p.Glu186=)
|
|
|
NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)
|
|
|
NM_024782.3(NHEJ1):c.577T>C (p.Phe193Leu)
|
rs2106361542
|
|
NM_024782.3(NHEJ1):c.584T>C (p.Ile195Thr)
|
|
|
NM_024782.3(NHEJ1):c.589-11C>G
|
|
|
NM_024782.3(NHEJ1):c.589-14C>A
|
rs1432657602
|
|
NM_024782.3(NHEJ1):c.589-14C>T
|
|
|
NM_024782.3(NHEJ1):c.589-2A>G
|
rs753495484
|
|
NM_024782.3(NHEJ1):c.589-6T>A
|
rs2106320191
|
|
NM_024782.3(NHEJ1):c.589-7C>G
|
rs2106320193
|
|
NM_024782.3(NHEJ1):c.597A>G (p.Pro199=)
|
rs1259490602
|
|
NM_024782.3(NHEJ1):c.599A>C (p.Glu200Ala)
|
rs2106320174
|
|
NM_024782.3(NHEJ1):c.600G>A (p.Glu200=)
|
|
|
NM_024782.3(NHEJ1):c.603A>G (p.Ala201=)
|
rs2106320167
|
|
NM_024782.3(NHEJ1):c.606C>T (p.Cys202=)
|
rs2106320164
|
|
NM_024782.3(NHEJ1):c.638A>G (p.Asn213Ser)
|
rs2106320135
|
|
NM_024782.3(NHEJ1):c.641T>C (p.Leu214Pro)
|
rs2106320129
|
|
NM_024782.3(NHEJ1):c.642G>A (p.Leu214=)
|
rs774224764
|
|
NM_024782.3(NHEJ1):c.642G>T (p.Leu214=)
|
rs774224764
|
|
NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter)
|
rs1553542017
|
|
NM_024782.3(NHEJ1):c.653A>G (p.Tyr218Cys)
|
|
|
NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs)
|
rs2106320090
|
|
NM_024782.3(NHEJ1):c.67C>T (p.Leu23Phe)
|
|
|
NM_024782.3(NHEJ1):c.681A>G (p.Gln227=)
|
rs1949031096
|
|
NM_024782.3(NHEJ1):c.684G>A (p.Val228=)
|
|
|
NM_024782.3(NHEJ1):c.706+13G>C
|
|
|
NM_024782.3(NHEJ1):c.706+15G>A
|
rs757046280
|
|
NM_024782.3(NHEJ1):c.706+16G>A
|
|
|
NM_024782.3(NHEJ1):c.706+16G>T
|
|
|
NM_024782.3(NHEJ1):c.706+19C>T
|
|
|
NM_024782.3(NHEJ1):c.707-8G>A
|
rs1574697770
|
|
NM_024782.3(NHEJ1):c.722C>T (p.Ser241Leu)
|
rs2106319547
|
|
NM_024782.3(NHEJ1):c.753C>T (p.Ser251=)
|
|
|
NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)
|
|
|
NM_024782.3(NHEJ1):c.75del (p.Lys26fs)
|
|
|
NM_024782.3(NHEJ1):c.762A>G (p.Val254=)
|
rs2106319497
|
|
NM_024782.3(NHEJ1):c.765C>A (p.Asn255Lys)
|
|
|
NM_024782.3(NHEJ1):c.777A>T (p.Gln259His)
|
|
|
NM_024782.3(NHEJ1):c.781G>A (p.Val261Ile)
|
|
|
NM_024782.3(NHEJ1):c.805_806delinsTT (p.Ala269Leu)
|
rs2106319460
|
|
NM_024782.3(NHEJ1):c.818A>C (p.Glu273Ala)
|
rs2106319449
|
|
NM_024782.3(NHEJ1):c.825+20del
|
|
|
NM_024782.3(NHEJ1):c.834A>C (p.Ser278=)
|
|
|
NM_024782.3(NHEJ1):c.842T>C (p.Leu281Pro)
|
rs1375879411
|
|
NM_024782.3(NHEJ1):c.895A>G (p.Ser299Gly)
|
rs2106318888
|
|
NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)
|
|
|
NM_024782.3(NHEJ1):c.9A>G (p.Glu3=)
|
rs1392400000
|
|
NM_138787.4(IFTAP):c.-24+3628C>A
|
rs1851360292
|
|
NM_206937.2(LIG4):c.*26C>G
|
rs773391515
|
|
NM_206937.2(LIG4):c.*26del
|
rs886049948
|
|
NM_206937.2(LIG4):c.*599_*602del
|
rs3093770
|
|
NM_206937.2(LIG4):c.*620AATTG[1]
|
rs544474901
|
|
NM_206937.2(LIG4):c.*857T>C
|
rs536555099
|
|
NM_206937.2(LIG4):c.*906T>A
|
rs886049943
|
|
NM_206937.2(LIG4):c.1004A>G (p.Tyr335Cys)
|
|
|
NM_206937.2(LIG4):c.1005T>C (p.Tyr335=)
|
|
|
NM_206937.2(LIG4):c.1017A>C (p.Thr339=)
|
rs1191214623
|
|
NM_206937.2(LIG4):c.1017A>G (p.Thr339=)
|
|
|
NM_206937.2(LIG4):c.1023T>C (p.Thr341=)
|
rs1594462038
|
|
NM_206937.2(LIG4):c.1026del (p.Phe342fs)
|
|
|
NM_206937.2(LIG4):c.1032A>G (p.Gln344=)
|
|
|
NM_206937.2(LIG4):c.1037_1044del (p.Gly346fs)
|
|
|
NM_206937.2(LIG4):c.1059A>G (p.Arg353=)
|
|
|
NM_206937.2(LIG4):c.106dup (p.Ile36fs)
|
|
|
NM_206937.2(LIG4):c.1089T>C (p.Cys363=)
|
rs1566365257
|
|
NM_206937.2(LIG4):c.1092T>C (p.Tyr364=)
|
|
|
NM_206937.2(LIG4):c.1095T>C (p.Cys365=)
|
|
|
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val)
|
rs1220876973
|
|
NM_206937.2(LIG4):c.1107A>T (p.Val369=)
|
|
|
NM_206937.2(LIG4):c.1108T>C (p.Leu370=)
|
|
|
NM_206937.2(LIG4):c.1113G>T (p.Met371Ile)
|
|
|
NM_206937.2(LIG4):c.1122T>C (p.Asn374=)
|
|
|
NM_206937.2(LIG4):c.1128G>A (p.Lys376=)
|
|
|
NM_206937.2(LIG4):c.1134G>A (p.Gly378=)
|
|
|
NM_206937.2(LIG4):c.1144_1145del (p.Leu382fs)
|
rs1246940345
|
|
NM_206937.2(LIG4):c.1146G>A (p.Leu382=)
|
rs1878467886
|
|
NM_206937.2(LIG4):c.1150_1153del (p.Lys384fs)
|
|
|
NM_206937.2(LIG4):c.1153A>C (p.Arg385=)
|
|
|
NM_206937.2(LIG4):c.1155G>C (p.Arg385Ser)
|
rs2138975581
|
|
NM_206937.2(LIG4):c.1166T>G (p.Leu389Arg)
|
|
|
NM_206937.2(LIG4):c.1169GTA[1] (p.Ser391del)
|
|
|
NM_206937.2(LIG4):c.116T>G (p.Phe39Cys)
|
|
|
NM_206937.2(LIG4):c.117C>A (p.Phe39Leu)
|
rs1414587110
|
|
NM_206937.2(LIG4):c.1191A>G (p.Pro397=)
|
|
|
NM_206937.2(LIG4):c.1192G>C (p.Gly398Arg)
|
|
|
NM_206937.2(LIG4):c.1193G>T (p.Gly398Val)
|
rs538646268
|
|
NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu)
|
rs886049949
|
|
NM_206937.2(LIG4):c.1199T>C (p.Ile400Thr)
|
rs1878459563
|
|
NM_206937.2(LIG4):c.1209G>T (p.Val403=)
|
|
|
NM_206937.2(LIG4):c.1210del (p.Gln404fs)
|
|
|
NM_206937.2(LIG4):c.1215A>G (p.Lys405=)
|
|
|
NM_206937.2(LIG4):c.1218A>G (p.Thr406=)
|
|
|
NM_206937.2(LIG4):c.1223C>T (p.Ala408Val)
|
|
|
NM_206937.2(LIG4):c.1224T>C (p.Ala408=)
|
|
|
NM_206937.2(LIG4):c.1235A>C (p.Asn412Thr)
|
|
|
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser)
|
rs781425152
|
|
NM_206937.2(LIG4):c.1243_1244del (p.Val414_Ile415insTer)
|
|
|
NM_206937.2(LIG4):c.1245T>A (p.Ile415=)
|
|
|
NM_206937.2(LIG4):c.1245T>C (p.Ile415=)
|
|
|
NM_206937.2(LIG4):c.1246_1250dup (p.Leu418fs)
|
rs2138974907
|
|
NM_206937.2(LIG4):c.1247A>G (p.Asp416Gly)
|
rs200912533
|
|
NM_206937.2(LIG4):c.1250C>G (p.Ala417Gly)
|
rs2138974891
|
|
NM_206937.2(LIG4):c.1250C>T (p.Ala417Val)
|
rs2138974891
|
|
NM_206937.2(LIG4):c.1260A>G (p.Glu420=)
|
|
|
NM_206937.2(LIG4):c.1263A>G (p.Ala421=)
|
rs1594460576
|
|
NM_206937.2(LIG4):c.1265T>C (p.Ile422Thr)
|
|
|
NM_206937.2(LIG4):c.1269T>C (p.Asp423=)
|
|
|
NM_206937.2(LIG4):c.1270_1273del (p.Lys424fs)
|
|
|
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
|
rs772226399
|
|
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg)
|
rs2138974645
|
|
NM_206937.2(LIG4):c.1289T>C (p.Met430Thr)
|
|
|
NM_206937.2(LIG4):c.1289dup (p.Met430fs)
|
|
|
NM_206937.2(LIG4):c.1295AAC[1] (p.Gln433del)
|
rs587776663
|
|
NM_206937.2(LIG4):c.1300C>T (p.Pro434Ser)
|
|
|
NM_206937.2(LIG4):c.1303C>T (p.Leu435=)
|
|
|
NM_206937.2(LIG4):c.1305A>G (p.Leu435=)
|
|
|
NM_206937.2(LIG4):c.1309A>C (p.Ile437Leu)
|
|
|
NM_206937.2(LIG4):c.1311C>A (p.Ile437=)
|
|
|
NM_206937.2(LIG4):c.1314C>T (p.Tyr438=)
|
|
|
NM_206937.2(LIG4):c.1317G>A (p.Lys439=)
|
|
|
NM_206937.2(LIG4):c.1320A>G (p.Pro440=)
|
|
|
NM_206937.2(LIG4):c.1321G>A (p.Asp441Asn)
|
|
|
NM_206937.2(LIG4):c.1326A>G (p.Lys442=)
|
|
|
NM_206937.2(LIG4):c.1329A>G (p.Arg443=)
|
rs1421197602
|
|
NM_206937.2(LIG4):c.1347A>G (p.Lys449=)
|
|
|
NM_206937.2(LIG4):c.1359G>A (p.Glu453=)
|
|
|
NM_206937.2(LIG4):c.1367G>A (p.Ser456Asn)
|
|
|
NM_206937.2(LIG4):c.1380T>A (p.Asp460Glu)
|
|
|
NM_206937.2(LIG4):c.1383del (p.Glu461fs)
|
|
|
NM_206937.2(LIG4):c.1384T>C (p.Leu462=)
|
|
|
NM_206937.2(LIG4):c.1392T>A (p.Ile464=)
|
|
|
NM_206937.2(LIG4):c.1396A>G (p.Ile466Val)
|
rs770386631
|
|
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu)
|
rs104894420
|
|
NM_206937.2(LIG4):c.1422A>G (p.Gly474=)
|
|
|
NM_206937.2(LIG4):c.1426C>T (p.Arg476Trp)
|
rs747450004
|
|
NM_206937.2(LIG4):c.1430del (p.Gly477fs)
|
|
|
NM_206937.2(LIG4):c.1435A>C (p.Met479Leu)
|
rs2138973656
|
|
NM_206937.2(LIG4):c.1440G>A (p.Met480Ile)
|
rs1878414694
|
|
NM_206937.2(LIG4):c.1458A>C (p.Ala486=)
|
|
|
NM_206937.2(LIG4):c.1475del (p.Pro492fs)
|
rs767195999
|
|
NM_206937.2(LIG4):c.1479T>G (p.Pro493=)
|
rs2138973409
|
|
NM_206937.2(LIG4):c.1481G>T (p.Gly494Val)
|
|
|
NM_206937.2(LIG4):c.1482T>C (p.Gly494=)
|
|
|
NM_206937.2(LIG4):c.1491A>C (p.Pro497=)
|
|
|
NM_206937.2(LIG4):c.1495G>A (p.Val499Met)
|
rs767349135
|
|
NM_206937.2(LIG4):c.149A>G (p.His50Arg)
|
|
|
NM_206937.2(LIG4):c.1503T>C (p.His501=)
|
|
|
NM_206937.2(LIG4):c.1507C>G (p.Leu503Val)
|
rs747572491
|
|
NM_206937.2(LIG4):c.150T>C (p.His50=)
|
|
|
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.1519G>C (p.Gly507Arg)
|
|
|
NM_206937.2(LIG4):c.1536G>A (p.Met512Ile)
|
rs2138972988
|
|
NM_206937.2(LIG4):c.1536_1537delinsTT (p.Met512_Lys513delinsIleTer)
|
|
|
NM_206937.2(LIG4):c.1542A>C (p.Glu514Asp)
|
rs2138972951
|
|
NM_206937.2(LIG4):c.1545G>A (p.Leu515=)
|
rs2138972922
|
|
NM_206937.2(LIG4):c.1545G>C (p.Leu515=)
|
|
|
NM_206937.2(LIG4):c.1561A>T (p.Lys521Ter)
|
|
|
NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly)
|
rs781102255
|
|
NM_206937.2(LIG4):c.1569C>G (p.Ala523=)
|
|
|
NM_206937.2(LIG4):c.1575T>C (p.Tyr525=)
|
|
|
NM_206937.2(LIG4):c.1578G>A (p.Trp526Ter)
|
|
|
NM_206937.2(LIG4):c.1583del (p.Pro528fs)
|
|
|
NM_206937.2(LIG4):c.1589A>G (p.His530Arg)
|
|
|
NM_206937.2(LIG4):c.1598C>G (p.Ala533Gly)
|
|
|
NM_206937.2(LIG4):c.15A>T (p.Gln5His)
|
rs1878635695
|
|
NM_206937.2(LIG4):c.1605A>G (p.Pro535=)
|
|
|
NM_206937.2(LIG4):c.1611C>T (p.Ser537=)
|
|
|
NM_206937.2(LIG4):c.1621G>T (p.Gly541Ter)
|
|
|
NM_206937.2(LIG4):c.1623A>G (p.Gly541=)
|
|
|
NM_206937.2(LIG4):c.1625C>T (p.Thr542Ile)
|
|
|
NM_206937.2(LIG4):c.1636G>T (p.Glu546Ter)
|
|
|
NM_206937.2(LIG4):c.1642_1643del (p.Tyr548fs)
|
rs1594458526
|
|
NM_206937.2(LIG4):c.1643A>G (p.Tyr548Cys)
|
|
|
NM_206937.2(LIG4):c.1653T>C (p.Pro551=)
|
|
|
NM_206937.2(LIG4):c.1656T>C (p.Cys552=)
|
rs543175901
|
|
NM_206937.2(LIG4):c.1665C>G (p.Val555=)
|
|
|
NM_206937.2(LIG4):c.1665C>T (p.Val555=)
|
|
|
NM_206937.2(LIG4):c.1689G>A (p.Glu563=)
|
|
|
NM_206937.2(LIG4):c.1693G>A (p.Val565Ile)
|
|
|
NM_206937.2(LIG4):c.1697C>A (p.Pro566His)
|
rs1481289157
|
|
NM_206937.2(LIG4):c.1697C>T (p.Pro566Leu)
|
|
|
NM_206937.2(LIG4):c.1703A>G (p.Asp568Gly)
|
rs202041497
|
|
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val)
|
rs1878367870
|
|
NM_206937.2(LIG4):c.1708T>C (p.Tyr570His)
|
rs2138971865
|
|
NM_206937.2(LIG4):c.1720_1721delinsCT (p.Cys574Leu)
|
rs1594458075
|
|
NM_206937.2(LIG4):c.172A>G (p.Lys58Glu)
|
rs1594465897
|
|
NM_206937.2(LIG4):c.1735C>T (p.Pro579Ser)
|
|
|
NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs)
|
rs759829934
|
|
NM_206937.2(LIG4):c.1748del (p.Lys583fs)
|
|
|
NM_206937.2(LIG4):c.174A>G (p.Lys58=)
|
rs1192620115
|
|
NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs)
|
rs770128720
|
|
NM_206937.2(LIG4):c.1754G>T (p.Arg585Ile)
|
rs1878357858
|
|
NM_206937.2(LIG4):c.1755A>G (p.Arg585=)
|
|
|
NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr)
|
rs753492255
|
|
NM_206937.2(LIG4):c.1758T>A (p.Asp586Glu)
|
rs1878354937
|
|
NM_206937.2(LIG4):c.1767G>A (p.Glu589=)
|
|
|
NM_206937.2(LIG4):c.1780A>C (p.Met594Leu)
|
rs1878351126
|
|
NM_206937.2(LIG4):c.1797A>G (p.Leu599=)
|
|
|
NM_206937.2(LIG4):c.1798G>T (p.Glu600Ter)
|
|
|
NM_206937.2(LIG4):c.1800A>G (p.Glu600=)
|
|
|
NM_206937.2(LIG4):c.1809G>A (p.Arg603=)
|
|
|
NM_206937.2(LIG4):c.1828C>A (p.Leu610Ile)
|
|
|
NM_206937.2(LIG4):c.1835C>G (p.Ser612Cys)
|
|
|
NM_206937.2(LIG4):c.1836T>C (p.Ser612=)
|
|
|
NM_206937.2(LIG4):c.1839A>C (p.Lys613Asn)
|
|
|
NM_206937.2(LIG4):c.1842C>T (p.His614=)
|
|
|
NM_206937.2(LIG4):c.184G>A (p.Asp62Asn)
|
|
|
NM_206937.2(LIG4):c.1857T>G (p.Gly619=)
|
|
|
NM_206937.2(LIG4):c.1868C>G (p.Pro623Arg)
|
rs1412566515
|
|
NM_206937.2(LIG4):c.1869A>G (p.Pro623=)
|
|
|
NM_206937.2(LIG4):c.1870C>T (p.Gln624Ter)
|
|
|
NM_206937.2(LIG4):c.1878_1880del (p.Lys627del)
|
|
|
NM_206937.2(LIG4):c.1880dup (p.Arg628fs)
|
|
|
NM_206937.2(LIG4):c.1888G>C (p.Ala630Pro)
|
rs1262844792
|
|
NM_206937.2(LIG4):c.1891G>T (p.Ala631Ser)
|
|
|
NM_206937.2(LIG4):c.1893C>T (p.Ala631=)
|
rs267603748
|
|
NM_206937.2(LIG4):c.189T>C (p.Ser63=)
|
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|
NM_206937.2(LIG4):c.1911T>C (p.Val637=)
|
|
|
NM_206937.2(LIG4):c.1916G>C (p.Gly639Ala)
|
|
|
NM_206937.2(LIG4):c.1918A>T (p.Ile640Phe)
|
rs1404206174
|
|
NM_206937.2(LIG4):c.191T>C (p.Phe64Ser)
|
|
|
NM_206937.2(LIG4):c.1920T>C (p.Ile640=)
|
|
|
NM_206937.2(LIG4):c.1920T>G (p.Ile640Met)
|
|
|
NM_206937.2(LIG4):c.1928del (p.His643fs)
|
|
|
NM_206937.2(LIG4):c.1932A>C (p.Leu644Phe)
|
rs2138970296
|
|
NM_206937.2(LIG4):c.1939C>T (p.Pro647Ser)
|
rs1035346047
|
|
NM_206937.2(LIG4):c.1940C>T (p.Pro647Leu)
|
rs775265846
|
|
NM_206937.2(LIG4):c.195T>C (p.Tyr65=)
|
|
|
NM_206937.2(LIG4):c.1973T>C (p.Ile658Thr)
|
|
|
NM_206937.2(LIG4):c.1973del (p.Ile658fs)
|
|
|
NM_206937.2(LIG4):c.1974A>G (p.Ile658Met)
|
|
|
NM_206937.2(LIG4):c.1982A>C (p.Asp661Ala)
|
rs1391488834
|
|
NM_206937.2(LIG4):c.1992T>C (p.Phe664=)
|
|
|
NM_206937.2(LIG4):c.2028T>C (p.Pro676=)
|
|
|
NM_206937.2(LIG4):c.2031C>T (p.Asp677=)
|
|
|
NM_206937.2(LIG4):c.2035G>A (p.Glu679Lys)
|
rs957569908
|
|
NM_206937.2(LIG4):c.2038A>G (p.Asn680Asp)
|
rs2138969607
|
|
NM_206937.2(LIG4):c.2040C>T (p.Asn680=)
|
|
|
NM_206937.2(LIG4):c.2042G>A (p.Arg681Lys)
|
|
|
NM_206937.2(LIG4):c.2046T>G (p.Ile682Met)
|
rs2138969520
|
|
NM_206937.2(LIG4):c.2049A>C (p.Ala683=)
|
|
|
NM_206937.2(LIG4):c.204G>A (p.Met68Ile)
|
rs1326374108
|
|
NM_206937.2(LIG4):c.2059G>A (p.Gly687Ser)
|
|
|
NM_206937.2(LIG4):c.2067A>T (p.Ile689=)
|
|
|
NM_206937.2(LIG4):c.208C>G (p.Leu70Val)
|
rs193107403
|
|
NM_206937.2(LIG4):c.2091G>A (p.Thr697=)
|
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
|
NM_206937.2(LIG4):c.209T>C (p.Leu70Pro)
|
rs2138980832
|
|
NM_206937.2(LIG4):c.2110T>C (p.Ser704Pro)
|
|
|
NM_206937.2(LIG4):c.2118C>T (p.Asn706=)
|
|
|
NM_206937.2(LIG4):c.2135_2136del (p.Ile712fs)
|
rs1566360837
|
|
NM_206937.2(LIG4):c.2139T>G (p.Ile713Met)
|
rs1878277031
|
|
NM_206937.2(LIG4):c.2143T>A (p.Ser715Thr)
|
|
|
NM_206937.2(LIG4):c.2157T>C (p.Asp719=)
|
rs2138968929
|
|
NM_206937.2(LIG4):c.2161G>A (p.Val721Ile)
|
|
|
NM_206937.2(LIG4):c.2163C>G (p.Val721=)
|
|
|
NM_206937.2(LIG4):c.2166G>A (p.Lys722=)
|
|
|
NM_206937.2(LIG4):c.2169T>G (p.Pro723=)
|
|
|
NM_206937.2(LIG4):c.2172A>C (p.Ala724=)
|
|
|
NM_206937.2(LIG4):c.2172A>G (p.Ala724=)
|
|
|
NM_206937.2(LIG4):c.2175del (p.Trp725fs)
|
rs1286797317
|
|
NM_206937.2(LIG4):c.2189T>G (p.Phe730Cys)
|
|
|
NM_206937.2(LIG4):c.2190del (p.Phe730fs)
|
|
|
NM_206937.2(LIG4):c.2193G>C (p.Lys731Asn)
|
rs1878269517
|
|
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
|
|
|
NM_206937.2(LIG4):c.2216A>C (p.Gln739Pro)
|
|
|
NM_206937.2(LIG4):c.2224T>C (p.Phe742Leu)
|
rs1878264184
|
|
NM_206937.2(LIG4):c.2234A>G (p.His745Arg)
|
rs981096741
|
|
NM_206937.2(LIG4):c.2237T>C (p.Met746Thr)
|
|
|
NM_206937.2(LIG4):c.2239T>C (p.Cys747Arg)
|
rs1878262100
|
|
NM_206937.2(LIG4):c.2250C>G (p.Thr750=)
|
|
|
NM_206937.2(LIG4):c.2262del (p.Phe754fs)
|
|
|
NM_206937.2(LIG4):c.2266C>A (p.Arg756Ser)
|
rs557203390
|
|
NM_206937.2(LIG4):c.226G>T (p.Glu76Ter)
|
|
|
NM_206937.2(LIG4):c.2276A>G (p.Asp759Gly)
|
|
|
NM_206937.2(LIG4):c.2283T>C (p.Tyr761=)
|
|
|
NM_206937.2(LIG4):c.2292T>C (p.Ser764=)
|
rs2138968175
|
|
NM_206937.2(LIG4):c.2295T>C (p.Tyr765=)
|
|
|
NM_206937.2(LIG4):c.22C>T (p.Gln8Ter)
|
|
|
NM_206937.2(LIG4):c.2305dup (p.Thr769fs)
|
rs1878251067
|
|
NM_206937.2(LIG4):c.2316C>T (p.Asn772=)
|
rs957413601
|
|
NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)
|
|
|
NM_206937.2(LIG4):c.2317C>A (p.Gln773Lys)
|
rs1386691031
|
|
NM_206937.2(LIG4):c.2317C>T (p.Gln773Ter)
|
|
|
NM_206937.2(LIG4):c.2319A>G (p.Gln773=)
|
rs1594454898
|
|
NM_206937.2(LIG4):c.2320C>T (p.Leu774=)
|
|
|
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro)
|
rs1060499662
|
|
NM_206937.2(LIG4):c.2326del (p.Glu776fs)
|
|
|
NM_206937.2(LIG4):c.2334C>T (p.Phe778=)
|
|
|
NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys)
|
rs200756045
|
|
NM_206937.2(LIG4):c.237A>G (p.Arg79=)
|
|
|
NM_206937.2(LIG4):c.2387T>G (p.Ile796Ser)
|
rs903162818
|
|
NM_206937.2(LIG4):c.2388T>C (p.Ile796=)
|
|
|
NM_206937.2(LIG4):c.2388T>G (p.Ile796Met)
|
rs1878236738
|
|
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs)
|
rs2138967445
|
|
NM_206937.2(LIG4):c.2409T>C (p.Tyr803=)
|
|
|
NM_206937.2(LIG4):c.2412C>T (p.Ser804=)
|
|
|
NM_206937.2(LIG4):c.2426C>T (p.Pro809Leu)
|
|
|
NM_206937.2(LIG4):c.2426_2430del (p.Pro809fs)
|
|
|
NM_206937.2(LIG4):c.2427T>A (p.Pro809=)
|
|
|
NM_206937.2(LIG4):c.2427dup (p.Leu810fs)
|
|
|
NM_206937.2(LIG4):c.2430C>T (p.Leu810=)
|
|
|
NM_206937.2(LIG4):c.243C>G (p.Ala81=)
|
|
|
NM_206937.2(LIG4):c.243C>T (p.Ala81=)
|
|
|
NM_206937.2(LIG4):c.2440C>A (p.Arg814=)
|
|
|
NM_206937.2(LIG4):c.2441G>T (p.Arg814Leu)
|
|
|
NM_206937.2(LIG4):c.2444G>T (p.Arg815Leu)
|
rs574090677
|
|
NM_206937.2(LIG4):c.2449A>G (p.Thr817Ala)
|
|
|
NM_206937.2(LIG4):c.2460G>C (p.Leu820Phe)
|
|
|
NM_206937.2(LIG4):c.2462A>G (p.Asp821Gly)
|
|
|
NM_206937.2(LIG4):c.2465C>G (p.Ser822Trp)
|
|
|
NM_206937.2(LIG4):c.2466G>A (p.Ser822=)
|
rs752539259
|
|
NM_206937.2(LIG4):c.2466G>T (p.Ser822=)
|
|
|
NM_206937.2(LIG4):c.2468A>G (p.Tyr823Cys)
|
rs751149500
|
|
NM_206937.2(LIG4):c.246T>C (p.Tyr82=)
|
|
|
NM_206937.2(LIG4):c.2470G>T (p.Ala824Ser)
|
|
|
NM_206937.2(LIG4):c.2480A>G (p.Asn827Ser)
|
rs1878212620
|
|
NM_206937.2(LIG4):c.2482G>A (p.Asp828Asn)
|
|
|
NM_206937.2(LIG4):c.2485C>T (p.Leu829=)
|
|
|
NM_206937.2(LIG4):c.2486T>C (p.Leu829Pro)
|
rs146597721
|
|
NM_206937.2(LIG4):c.2486T>G (p.Leu829Arg)
|
rs146597721
|
|
NM_206937.2(LIG4):c.2492C>A (p.Thr831Asn)
|
rs199526538
|
|
NM_206937.2(LIG4):c.24A>G (p.Gln8=)
|
|
|
NM_206937.2(LIG4):c.2505G>A (p.Gly835=)
|
|
|
NM_206937.2(LIG4):c.250dup (p.Ile84fs)
|
|
|
NM_206937.2(LIG4):c.2517T>C (p.Ala839=)
|
|
|
NM_206937.2(LIG4):c.2519T>C (p.Ile840Thr)
|
rs2138966585
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NM_206937.2(LIG4):c.2527T>C (p.Leu843=)
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NM_206937.2(LIG4):c.2529G>A (p.Leu843=)
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NM_206937.2(LIG4):c.2541T>C (p.Phe847=)
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NM_206937.2(LIG4):c.2545G>A (p.Gly849Arg)
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NM_206937.2(LIG4):c.2556A>G (p.Val852=)
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NM_206937.2(LIG4):c.2580G>A (p.Val860=)
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NM_206937.2(LIG4):c.2585_2586del (p.His862fs)
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NM_206937.2(LIG4):c.2592A>G (p.Ile864Met)
|
rs2138966110
|
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NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs)
|
rs765317127
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NM_206937.2(LIG4):c.2595T>A (p.Ile865=)
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NM_206937.2(LIG4):c.2595del (p.Ile865fs)
|
rs757090161
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NM_206937.2(LIG4):c.2596G>A (p.Gly866Arg)
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NM_206937.2(LIG4):c.2609G>A (p.Ser870Asn)
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NM_206937.2(LIG4):c.260C>G (p.Thr87Ser)
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NM_206937.2(LIG4):c.2610T>C (p.Ser870=)
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NM_206937.2(LIG4):c.2618C>G (p.Ala873Gly)
|
rs1372817258
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NM_206937.2(LIG4):c.261T>C (p.Thr87=)
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NM_206937.2(LIG4):c.2636GAA[1] (p.Arg880del)
|
rs753650304
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NM_206937.2(LIG4):c.2645T>C (p.Phe882Ser)
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NM_206937.2(LIG4):c.2645_2646del (p.Thr881_Phe882insTer)
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NM_206937.2(LIG4):c.2653_2654dup (p.Phe886fs)
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NM_206937.2(LIG4):c.2662A>C (p.Ile888Leu)
|
rs148711190
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NM_206937.2(LIG4):c.2662A>T (p.Ile888Phe)
|
rs148711190
|
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NM_206937.2(LIG4):c.2667A>C (p.Leu889=)
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NM_206937.2(LIG4):c.2667A>G (p.Leu889=)
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NM_206937.2(LIG4):c.2675G>T (p.Ser892Ile)
|
rs1324979016
|
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NM_206937.2(LIG4):c.2676T>C (p.Ser892=)
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NM_206937.2(LIG4):c.2698A>C (p.Lys900Gln)
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NM_206937.2(LIG4):c.2700G>A (p.Lys900=)
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NM_206937.2(LIG4):c.2703T>C (p.Cys901=)
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NM_206937.2(LIG4):c.2715A>G (p.Glu905=)
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NM_206937.2(LIG4):c.2736A>G (p.Ter912=)
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NM_206937.2(LIG4):c.279T>C (p.Tyr93=)
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NM_206937.2(LIG4):c.280A>G (p.Ile94Val)
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NM_206937.2(LIG4):c.283G>A (p.Glu95Lys)
|
rs1878597472
|
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NM_206937.2(LIG4):c.286T>C (p.Leu96=)
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NM_206937.2(LIG4):c.288G>A (p.Leu96=)
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NM_206937.2(LIG4):c.288G>C (p.Leu96Phe)
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NM_206937.2(LIG4):c.308G>A (p.Gly103Glu)
|
rs2138980358
|
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NM_206937.2(LIG4):c.321C>G (p.Leu107=)
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NM_206937.2(LIG4):c.33A>G (p.Ala11=)
|
rs748718655
|
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NM_206937.2(LIG4):c.34T>G (p.Ser12Ala)
|
rs554949695
|
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NM_206937.2(LIG4):c.353C>G (p.Thr118Ser)
|
rs2138980126
|
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NM_206937.2(LIG4):c.360A>G (p.Gly120=)
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NM_206937.2(LIG4):c.374_375del (p.Phe125fs)
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NM_206937.2(LIG4):c.387A>C (p.Ala129=)
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NM_206937.2(LIG4):c.399G>A (p.Leu133=)
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NM_206937.2(LIG4):c.408A>G (p.Arg136=)
|
rs2138979857
|
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NM_206937.2(LIG4):c.438G>A (p.Gln146=)
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NM_206937.2(LIG4):c.439del (p.Gln147fs)
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NM_206937.2(LIG4):c.450C>T (p.Asp150=)
|
rs2138979718
|
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NM_206937.2(LIG4):c.459C>T (p.Asp153=)
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NM_206937.2(LIG4):c.467C>T (p.Ala156Val)
|
rs1878574599
|
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NM_206937.2(LIG4):c.480T>A (p.Ser160=)
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NM_206937.2(LIG4):c.482C>G (p.Ala161Gly)
|
rs530696588
|
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NM_206937.2(LIG4):c.482del (p.Ala161fs)
|
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NM_206937.2(LIG4):c.483T>G (p.Ala161=)
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NM_206937.2(LIG4):c.489A>C (p.Arg163Ser)
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NM_206937.2(LIG4):c.498A>G (p.Leu166=)
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NM_206937.2(LIG4):c.506A>T (p.Lys169Met)
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NM_206937.2(LIG4):c.510C>T (p.Ser170=)
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NM_206937.2(LIG4):c.519A>G (p.Gln173=)
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NM_206937.2(LIG4):c.529C>G (p.Gln177Glu)
|
rs771448034
|
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NM_206937.2(LIG4):c.533G>A (p.Ser178Asn)
|
rs1878561624
|
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NM_206937.2(LIG4):c.536C>G (p.Ser179Ter)
|
|
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NM_206937.2(LIG4):c.538G>A (p.Ala180Thr)
|
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NM_206937.2(LIG4):c.53A>T (p.Asp18Val)
|
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NM_206937.2(LIG4):c.56T>G (p.Leu19Trp)
|
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NM_206937.2(LIG4):c.575del (p.Lys192fs)
|
|
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NM_206937.2(LIG4):c.57G>C (p.Leu19Phe)
|
rs762030781
|
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NM_206937.2(LIG4):c.580T>C (p.Leu194=)
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NM_206937.2(LIG4):c.585G>A (p.Lys195=)
|
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NM_206937.2(LIG4):c.590G>C (p.Gly197Ala)
|
rs779944478
|
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NM_206937.2(LIG4):c.590G>T (p.Gly197Val)
|
|
|
NM_206937.2(LIG4):c.597_600del (p.Gln200fs)
|
rs752339466
|
|
NM_206937.2(LIG4):c.612T>C (p.Phe204=)
|
|
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NM_206937.2(LIG4):c.613del (p.Ser205fs)
|
rs780879476
|
|
NM_206937.2(LIG4):c.615T>C (p.Ser205=)
|
|
|
NM_206937.2(LIG4):c.643C>T (p.His215Tyr)
|
rs1327104442
|
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NM_206937.2(LIG4):c.646_648del (p.Asn216del)
|
|
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NM_206937.2(LIG4):c.654T>A (p.Thr218=)
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NM_206937.2(LIG4):c.65C>T (p.Thr22Ile)
|
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NM_206937.2(LIG4):c.663G>A (p.Leu221=)
|
|
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NM_206937.2(LIG4):c.666A>C (p.Glu222Asp)
|
|
|
NM_206937.2(LIG4):c.666A>G (p.Glu222=)
|
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NM_206937.2(LIG4):c.672C>T (p.Val224=)
|
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|
NM_206937.2(LIG4):c.678G>A (p.Arg226=)
|
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NM_206937.2(LIG4):c.678del (p.Arg226fs)
|
|
|
NM_206937.2(LIG4):c.684G>A (p.Leu228=)
|
|
|
NM_206937.2(LIG4):c.689A>T (p.Asp230Val)
|
rs1388798970
|
|
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser)
|
|
|
NM_206937.2(LIG4):c.708T>C (p.Ser236=)
|
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|
NM_206937.2(LIG4):c.711T>C (p.Asp237=)
|
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NM_206937.2(LIG4):c.712A>C (p.Ile238Leu)
|
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|
NM_206937.2(LIG4):c.717T>C (p.Ser239=)
|
|
|
NM_206937.2(LIG4):c.720C>T (p.Ile240=)
|
rs1418033761
|
|
NM_206937.2(LIG4):c.724_725del (p.Leu242fs)
|
rs2138978299
|
|
NM_206937.2(LIG4):c.726A>G (p.Leu242=)
|
|
|
NM_206937.2(LIG4):c.735A>C (p.Ala245=)
|
rs2138978216
|
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NM_206937.2(LIG4):c.735A>G (p.Ala245=)
|
rs2138978216
|
|
NM_206937.2(LIG4):c.741A>G (p.Lys247=)
|
|
|
NM_206937.2(LIG4):c.743C>T (p.Pro248Leu)
|
rs2138978193
|
|
NM_206937.2(LIG4):c.748C>T (p.Leu250=)
|
|
|
NM_206937.2(LIG4):c.74G>A (p.Arg25Gln)
|
|
|
NM_206937.2(LIG4):c.753T>G (p.Ala251=)
|
rs2138978156
|
|
NM_206937.2(LIG4):c.755C>G (p.Ala252Gly)
|
rs1368317630
|
|
NM_206937.2(LIG4):c.757A>G (p.Ile253Val)
|
|
|
NM_206937.2(LIG4):c.757_758del (p.Ile253fs)
|
|
|
NM_206937.2(LIG4):c.764A>G (p.Asp255Gly)
|
rs2138978086
|
|
NM_206937.2(LIG4):c.767_768inv (p.Ile256Lys)
|
|
|
NM_206937.2(LIG4):c.771G>A (p.Glu257=)
|
|
|
NM_206937.2(LIG4):c.773A>G (p.His258Arg)
|
|
|
NM_206937.2(LIG4):c.788T>C (p.Met263Thr)
|
|
|
NM_206937.2(LIG4):c.795_796delinsAA (p.His265_Gln266delinsGlnLys)
|
|
|
NM_206937.2(LIG4):c.799_800del (p.Ser267fs)
|
rs1566366148
|
|
NM_206937.2(LIG4):c.800G>A (p.Ser267Asn)
|
rs1878526562
|
|
NM_206937.2(LIG4):c.804C>T (p.Phe268=)
|
rs2138977802
|
|
NM_206937.2(LIG4):c.807del (p.Phe268_Tyr269insTer)
|
|
|
NM_206937.2(LIG4):c.814A>T (p.Thr272Ser)
|
rs2138977743
|
|
NM_206937.2(LIG4):c.819G>A (p.Lys273=)
|
|
|
NM_206937.2(LIG4):c.832C>A (p.Arg278Ser)
|
|
|
NM_206937.2(LIG4):c.832C>G (p.Arg278Gly)
|
rs574912936
|
|
NM_206937.2(LIG4):c.833G>C (p.Arg278Pro)
|
|
|
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)
|
|
|
NM_206937.2(LIG4):c.836T>G (p.Met279Arg)
|
rs1878520639
|
|
NM_206937.2(LIG4):c.839A>G (p.Gln280Arg)
|
|
|
NM_206937.2(LIG4):c.840A>G (p.Gln280=)
|
|
|
NM_206937.2(LIG4):c.842T>C (p.Met281Thr)
|
rs1399378139
|
|
NM_206937.2(LIG4):c.845A>G (p.His282Arg)
|
|
|
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu)
|
rs1594462950
|
|
NM_206937.2(LIG4):c.856G>A (p.Asp286Asn)
|
rs1878516885
|
|
NM_206937.2(LIG4):c.861A>G (p.Val287=)
|
|
|
NM_206937.2(LIG4):c.862T>C (p.Tyr288His)
|
rs1878515448
|
|
NM_206937.2(LIG4):c.877C>A (p.Arg293=)
|
rs948441067
|
|
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)
|
|
|
NM_206937.2(LIG4):c.879_883del (p.Asn294fs)
|
rs751070095
|
|
NM_206937.2(LIG4):c.883G>A (p.Gly295Arg)
|
|
|
NM_206937.2(LIG4):c.884G>A (p.Gly295Glu)
|
|
|
NM_206937.2(LIG4):c.885A>G (p.Gly295=)
|
|
|
NM_206937.2(LIG4):c.889A>G (p.Asn297Asp)
|
|
|
NM_206937.2(LIG4):c.892T>C (p.Tyr298His)
|
rs1878508514
|
|
NM_206937.2(LIG4):c.894C>T (p.Tyr298=)
|
|
|
NM_206937.2(LIG4):c.895A>G (p.Thr299Ala)
|
|
|
NM_206937.2(LIG4):c.897T>G (p.Thr299=)
|
rs2138977040
|
|
NM_206937.2(LIG4):c.906T>C (p.Phe302=)
|
|
|
NM_206937.2(LIG4):c.911C>T (p.Ala304Val)
|
rs749198307
|
|
NM_206937.2(LIG4):c.916C>T (p.Pro306Ser)
|
rs1378327726
|
|
NM_206937.2(LIG4):c.936C>T (p.Thr312=)
|
|
|
NM_206937.2(LIG4):c.938C>T (p.Pro313Leu)
|
rs2138976768
|
|
NM_206937.2(LIG4):c.939A>G (p.Pro313=)
|
|
|
NM_206937.2(LIG4):c.93A>G (p.Gly31=)
|
|
|
NM_206937.2(LIG4):c.949A>G (p.Asn317Asp)
|
rs1566365677
|
|
NM_206937.2(LIG4):c.95G>A (p.Arg32His)
|
rs777181224
|
|
NM_206937.2(LIG4):c.95G>T (p.Arg32Leu)
|
rs777181224
|
|
NM_206937.2(LIG4):c.964G>A (p.Asp322Asn)
|
rs1796952947
|
|
NM_206937.2(LIG4):c.989G>T (p.Gly330Val)
|
rs1410858176
|
|
Single allele
|
|
|