ClinVar Miner

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

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6548
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HGVS dbSNP gnomAD frequency
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
NM_206937.2(LIG4):c.2527T>C (p.Leu843=)
NM_206937.2(LIG4):c.2529G>A (p.Leu843=)
NM_206937.2(LIG4):c.2541T>C (p.Phe847=)
NM_206937.2(LIG4):c.2545G>A (p.Gly849Arg)
NM_206937.2(LIG4):c.2556A>G (p.Val852=)
NM_206937.2(LIG4):c.2580G>A (p.Val860=)
NM_206937.2(LIG4):c.2585_2586del (p.His862fs)
NM_206937.2(LIG4):c.2592A>G (p.Ile864Met) rs2138966110
NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs) rs765317127
NM_206937.2(LIG4):c.2595T>A (p.Ile865=)
NM_206937.2(LIG4):c.2595del (p.Ile865fs) rs757090161
NM_206937.2(LIG4):c.2596G>A (p.Gly866Arg)
NM_206937.2(LIG4):c.2609G>A (p.Ser870Asn)
NM_206937.2(LIG4):c.260C>G (p.Thr87Ser)
NM_206937.2(LIG4):c.2610T>C (p.Ser870=)
NM_206937.2(LIG4):c.2618C>G (p.Ala873Gly) rs1372817258
NM_206937.2(LIG4):c.261T>C (p.Thr87=)
NM_206937.2(LIG4):c.2636GAA[1] (p.Arg880del) rs753650304
NM_206937.2(LIG4):c.2645T>C (p.Phe882Ser)
NM_206937.2(LIG4):c.2645_2646del (p.Thr881_Phe882insTer)
NM_206937.2(LIG4):c.2653_2654dup (p.Phe886fs)
NM_206937.2(LIG4):c.2662A>C (p.Ile888Leu) rs148711190
NM_206937.2(LIG4):c.2662A>T (p.Ile888Phe) rs148711190
NM_206937.2(LIG4):c.2667A>C (p.Leu889=)
NM_206937.2(LIG4):c.2667A>G (p.Leu889=)
NM_206937.2(LIG4):c.2675G>T (p.Ser892Ile) rs1324979016
NM_206937.2(LIG4):c.2676T>C (p.Ser892=)
NM_206937.2(LIG4):c.2698A>C (p.Lys900Gln)
NM_206937.2(LIG4):c.2700G>A (p.Lys900=)
NM_206937.2(LIG4):c.2703T>C (p.Cys901=)
NM_206937.2(LIG4):c.2715A>G (p.Glu905=)
NM_206937.2(LIG4):c.2736A>G (p.Ter912=)
NM_206937.2(LIG4):c.279T>C (p.Tyr93=)
NM_206937.2(LIG4):c.280A>G (p.Ile94Val)
NM_206937.2(LIG4):c.283G>A (p.Glu95Lys) rs1878597472
NM_206937.2(LIG4):c.286T>C (p.Leu96=)
NM_206937.2(LIG4):c.288G>A (p.Leu96=)
NM_206937.2(LIG4):c.288G>C (p.Leu96Phe)
NM_206937.2(LIG4):c.308G>A (p.Gly103Glu) rs2138980358
NM_206937.2(LIG4):c.321C>G (p.Leu107=)
NM_206937.2(LIG4):c.33A>G (p.Ala11=) rs748718655
NM_206937.2(LIG4):c.34T>G (p.Ser12Ala) rs554949695
NM_206937.2(LIG4):c.353C>G (p.Thr118Ser) rs2138980126
NM_206937.2(LIG4):c.360A>G (p.Gly120=)
NM_206937.2(LIG4):c.374_375del (p.Phe125fs)
NM_206937.2(LIG4):c.387A>C (p.Ala129=)
NM_206937.2(LIG4):c.399G>A (p.Leu133=)
NM_206937.2(LIG4):c.408A>G (p.Arg136=) rs2138979857
NM_206937.2(LIG4):c.438G>A (p.Gln146=)
NM_206937.2(LIG4):c.439del (p.Gln147fs)
NM_206937.2(LIG4):c.450C>T (p.Asp150=) rs2138979718
NM_206937.2(LIG4):c.459C>T (p.Asp153=)
NM_206937.2(LIG4):c.467C>T (p.Ala156Val) rs1878574599
NM_206937.2(LIG4):c.480T>A (p.Ser160=)
NM_206937.2(LIG4):c.482C>G (p.Ala161Gly) rs530696588
NM_206937.2(LIG4):c.482del (p.Ala161fs)
NM_206937.2(LIG4):c.483T>G (p.Ala161=)
NM_206937.2(LIG4):c.489A>C (p.Arg163Ser)
NM_206937.2(LIG4):c.498A>G (p.Leu166=)
NM_206937.2(LIG4):c.506A>T (p.Lys169Met)
NM_206937.2(LIG4):c.510C>T (p.Ser170=)
NM_206937.2(LIG4):c.519A>G (p.Gln173=)
NM_206937.2(LIG4):c.529C>G (p.Gln177Glu) rs771448034
NM_206937.2(LIG4):c.533G>A (p.Ser178Asn) rs1878561624
NM_206937.2(LIG4):c.536C>G (p.Ser179Ter)
NM_206937.2(LIG4):c.538G>A (p.Ala180Thr)
NM_206937.2(LIG4):c.53A>T (p.Asp18Val)
NM_206937.2(LIG4):c.56T>G (p.Leu19Trp)
NM_206937.2(LIG4):c.575del (p.Lys192fs)
NM_206937.2(LIG4):c.57G>C (p.Leu19Phe) rs762030781
NM_206937.2(LIG4):c.580T>C (p.Leu194=)
NM_206937.2(LIG4):c.585G>A (p.Lys195=)
NM_206937.2(LIG4):c.590G>C (p.Gly197Ala) rs779944478
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=)
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
NM_206937.2(LIG4):c.646_648del (p.Asn216del)
NM_206937.2(LIG4):c.654T>A (p.Thr218=)
NM_206937.2(LIG4):c.65C>T (p.Thr22Ile)
NM_206937.2(LIG4):c.663G>A (p.Leu221=)
NM_206937.2(LIG4):c.666A>C (p.Glu222Asp)
NM_206937.2(LIG4):c.666A>G (p.Glu222=)
NM_206937.2(LIG4):c.672C>T (p.Val224=)
NM_206937.2(LIG4):c.678G>A (p.Arg226=)
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=)
NM_206937.2(LIG4):c.711T>C (p.Asp237=)
NM_206937.2(LIG4):c.712A>C (p.Ile238Leu)
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
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

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