NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
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_006904.7(PRKDC):c.4594C>T (p.Leu1532Phe)
|
rs56387546
|
0.00230
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_001625.4(AK2):c.460G>A (p.Glu154Lys)
|
rs148421308
|
0.00208
|
NM_206937.2(LIG4):c.686A>G (p.His229Arg)
|
rs142957638
|
0.00196
|
NM_005356.5(LCK):c.281G>A (p.Ser94Asn)
|
rs142674647
|
0.00179
|
NM_006904.7(PRKDC):c.7405T>C (p.Cys2469Arg)
|
rs147514951
|
0.00165
|
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_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_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser)
|
rs55835956
|
0.00124
|
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
|
rs11567841
|
0.00121
|
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)
|
rs199731143
|
0.00104
|
NM_000448.3(RAG1):c.295G>A (p.Gly99Ser)
|
rs138676205
|
0.00093
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_001033855.3(DCLRE1C):c.306+7A>G
|
rs368317341
|
0.00085
|
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=)
|
rs143042511
|
0.00076
|
NM_006904.7(PRKDC):c.6342A>G (p.Glu2114=)
|
rs201300612
|
0.00071
|
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_006904.7(PRKDC):c.3101G>A (p.Arg1034Gln)
|
rs200669578
|
0.00067
|
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.3709G>A (p.Ala1237Thr)
|
rs191531119
|
0.00059
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
rs61745540
|
0.00058
|
NM_006904.7(PRKDC):c.8266-10G>A
|
rs187781588
|
0.00056
|
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_006904.7(PRKDC):c.9922+12G>A
|
rs199951054
|
0.00051
|
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_024782.3(NHEJ1):c.57A>G (p.Ala19=)
|
rs61757394
|
0.00047
|
NM_002872.5(RAC2):c.226-16C>T
|
rs201500108
|
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_206937.2(LIG4):c.13C>A (p.Gln5Lys)
|
rs143590752
|
0.00044
|
NM_006904.7(PRKDC):c.10298-12T>C
|
rs373100184
|
0.00043
|
NM_000022.4(ADA):c.660G>A (p.Ser220=)
|
rs147038410
|
0.00041
|
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.6327C>A (p.Gly2109=)
|
rs375377444
|
0.00037
|
NM_006904.7(PRKDC):c.1818A>G (p.Ser606=)
|
rs368804788
|
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_006904.7(PRKDC):c.11118C>T (p.Asp3706=)
|
rs55660253
|
0.00032
|
NM_206937.2(LIG4):c.1983T>C (p.Asp661=)
|
rs199638675
|
0.00032
|
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_001033855.3(DCLRE1C):c.675C>T (p.Val225=)
|
rs150805064
|
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_002872.5(RAC2):c.507C>T (p.Phe169=)
|
rs150782757
|
0.00029
|
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_000022.4(ADA):c.770T>C (p.Met257Thr)
|
rs145863450
|
0.00025
|
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=)
|
rs55842323
|
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_000448.3(RAG1):c.1064T>C (p.Met355Thr)
|
rs151077440
|
0.00021
|
NM_000448.3(RAG1):c.1821C>T (p.Asp607=)
|
rs183806098
|
0.00021
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
rs144654282
|
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_005356.5(LCK):c.279-16C>T
|
rs554553133
|
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.930G>A (p.Met310Ile)
|
rs145924854
|
0.00019
|
NM_000448.3(RAG1):c.1154T>C (p.Ile385Thr)
|
rs141049427
|
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.3675G>A (p.Glu1225=)
|
rs763655576
|
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_000022.4(ADA):c.780+7G>A
|
rs371862936
|
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_000022.4(ADA):c.219-13C>T
|
rs371326273
|
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.169G>T (p.Val57Phe)
|
rs138077101
|
0.00016
|
NM_005356.5(LCK):c.408C>T (p.Asp136=)
|
rs774750034
|
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.8178A>G (p.Leu2726=)
|
rs369309081
|
0.00016
|
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.648C>T (p.Pro216=)
|
rs201622956
|
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_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.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.8265+11T>C
|
rs754488029
|
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.597C>T (p.Asn199=)
|
rs148288583
|
0.00013
|
NM_006904.7(PRKDC):c.10773T>C (p.Asp3591=)
|
rs141113800
|
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.871G>A (p.Val291Met)
|
rs372117480
|
0.00013
|
NM_006904.7(PRKDC):c.8787G>A (p.Leu2929=)
|
rs918972042
|
0.00013
|
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp)
|
rs201779957
|
0.00012
|
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)
|
rs141025671
|
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.712A>G (p.Met238Val)
|
rs546088914
|
0.00012
|
NM_006904.7(PRKDC):c.8292G>A (p.Lys2764=)
|
rs750870740
|
0.00012
|
NM_000448.3(RAG1):c.2715C>T (p.Cys905=)
|
rs138119069
|
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.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.393T>C (p.Leu131=)
|
rs373096832
|
0.00011
|
NM_006904.7(PRKDC):c.5079C>G (p.Val1693=)
|
rs201654601
|
0.00011
|
NM_024782.3(NHEJ1):c.783C>G (p.Val261=)
|
rs374469478
|
0.00011
|
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.612A>G (p.Glu204=)
|
rs369593995
|
0.00010
|
NM_006904.7(PRKDC):c.11160C>T (p.Ala3720=)
|
rs758969884
|
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_024782.3(NHEJ1):c.837C>A (p.Gly279=)
|
rs145592698
|
0.00010
|
NM_206937.2(LIG4):c.1891G>A (p.Ala631Thr)
|
rs200385778
|
0.00010
|
NM_000022.4(ADA):c.57C>T (p.Asp19=)
|
rs762695968
|
0.00009
|
NM_000022.4(ADA):c.714C>T (p.His238=)
|
rs577317154
|
0.00009
|
NM_001033855.3(DCLRE1C):c.679-6C>T
|
rs201040496
|
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.1892+18A>T
|
rs8178034
|
0.00009
|
NM_006904.7(PRKDC):c.3931A>G (p.Lys1311Glu)
|
rs764358542
|
0.00009
|
NM_006904.7(PRKDC):c.6909G>A (p.Leu2303=)
|
rs765057141
|
0.00009
|
NM_006904.7(PRKDC):c.7454+8A>G
|
rs1466355747
|
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_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_001033855.3(DCLRE1C):c.1061+19T>C
|
rs895355133
|
0.00008
|
NM_001625.4(AK2):c.504C>T (p.Thr168=)
|
rs61750964
|
0.00008
|
NM_002872.5(RAC2):c.448+12G>A
|
rs373971208
|
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.6466-20A>G
|
rs764316285
|
0.00008
|
NM_006904.7(PRKDC):c.8229T>C (p.Tyr2743=)
|
rs562024708
|
0.00008
|
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.741A>G (p.Thr247=)
|
rs369844484
|
0.00007
|
NM_001625.4(AK2):c.171C>A (p.Gly57=)
|
rs61755973
|
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.3834G>A (p.Ala1278=)
|
rs8178088
|
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_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
NM_000022.4(ADA):c.621C>T (p.Ser207=)
|
rs373256688
|
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.1665C>T (p.Thr555=)
|
rs141265699
|
0.00006
|
NM_000536.4(RAG2):c.213T>C (p.Pro71=)
|
rs751114608
|
0.00006
|
NM_001033855.3(DCLRE1C):c.1218A>G (p.Pro406=)
|
rs1043126231
|
0.00006
|
NM_001033855.3(DCLRE1C):c.161+8A>C
|
rs542719569
|
0.00006
|
NM_001033855.3(DCLRE1C):c.2004A>G (p.Gln668=)
|
rs150063030
|
0.00006
|
NM_001033855.3(DCLRE1C):c.678+12G>A
|
rs201504698
|
0.00006
|
NM_001625.4(AK2):c.660C>T (p.Phe220=)
|
rs566166581
|
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.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.1245G>A (p.Gln415=)
|
rs753549842
|
0.00006
|
NM_006904.7(PRKDC):c.2730C>T (p.Phe910=)
|
rs575267352
|
0.00006
|
NM_006904.7(PRKDC):c.300C>T (p.Ile100=)
|
rs772911847
|
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.5760C>T (p.Tyr1920=)
|
rs188014107
|
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_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_000536.4(RAG2):c.1251T>C (p.Ile417=)
|
rs748248673
|
0.00005
|
NM_000536.4(RAG2):c.417T>G (p.Gly139=)
|
rs373022390
|
0.00005
|
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)
|
rs140176235
|
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.785-5C>T
|
rs746656319
|
0.00005
|
NM_005356.5(LCK):c.964+17T>A
|
rs1052646904
|
0.00005
|
NM_006904.7(PRKDC):c.11377G>A (p.Val3793Ile)
|
rs547031184
|
0.00005
|
NM_006904.7(PRKDC):c.2526+18T>C
|
rs760870903
|
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.6621A>G (p.Lys2207=)
|
rs757287016
|
0.00005
|
NM_006904.7(PRKDC):c.8163C>A (p.Gly2721=)
|
rs374804712
|
0.00005
|
NM_006904.7(PRKDC):c.9922+3A>G
|
rs548987190
|
0.00005
|
NM_000022.4(ADA):c.1079-6G>A
|
rs367991521
|
0.00004
|
NM_000022.4(ADA):c.21C>T (p.Phe7=)
|
rs925528695
|
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.1524T>C (p.Asn508=)
|
rs370855517
|
0.00004
|
NM_000448.3(RAG1):c.2004C>T (p.His668=)
|
rs1367781663
|
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.486T>A (p.Asp162Glu)
|
rs753042511
|
0.00004
|
NM_000448.3(RAG1):c.819T>C (p.His273=)
|
rs769498487
|
0.00004
|
NM_000536.4(RAG2):c.1443T>C (p.His481=)
|
rs560115611
|
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.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.219G>A (p.Pro73=)
|
rs147784627
|
0.00004
|
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
|
rs191086777
|
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_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.1497G>A (p.Thr499=)
|
rs375587756
|
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.11163G>A (p.Gly3721=)
|
rs750875142
|
0.00004
|
NM_006904.7(PRKDC):c.1203C>T (p.Asp401=)
|
rs1269983241
|
0.00004
|
NM_006904.7(PRKDC):c.1581C>T (p.Tyr527=)
|
rs551598588
|
0.00004
|
NM_006904.7(PRKDC):c.2001C>T (p.Tyr667=)
|
rs763151035
|
0.00004
|
NM_006904.7(PRKDC):c.2260-7C>T
|
rs770140937
|
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.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.5841C>T (p.Cys1947=)
|
rs546063249
|
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.7581T>C (p.His2527=)
|
rs572996196
|
0.00004
|
NM_006904.7(PRKDC):c.891G>A (p.Leu297=)
|
rs368582259
|
0.00004
|
NM_006904.7(PRKDC):c.9557+7C>T
|
rs775912901
|
0.00004
|
NM_206937.2(LIG4):c.1560G>A (p.Leu520=)
|
rs756164120
|
0.00004
|
NM_206937.2(LIG4):c.834T>C (p.Arg278=)
|
rs375022046
|
0.00004
|
NM_000022.4(ADA):c.1065T>C (p.Pro355=)
|
rs371814756
|
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.873G>A (p.Ser291=)
|
rs143236074
|
0.00003
|
NM_000022.4(ADA):c.976-4C>T
|
rs757375351
|
0.00003
|
NM_000448.3(RAG1):c.1809T>C (p.Asp603=)
|
rs763827932
|
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.37T>G (p.Ser13Ala)
|
rs760746448
|
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_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.246+15T>C
|
rs781019003
|
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.624G>A (p.Ala208=)
|
rs770874430
|
0.00003
|
NM_001033855.3(DCLRE1C):c.678+8G>A
|
rs920315432
|
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.499-8G>T
|
rs752613147
|
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.632-5C>T
|
rs561082283
|
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.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.1777-14A>G
|
rs377123521
|
0.00003
|
NM_006904.7(PRKDC):c.1809C>T (p.Ile603=)
|
rs182027303
|
0.00003
|
NM_006904.7(PRKDC):c.1971T>C (p.Ser657=)
|
rs766026632
|
0.00003
|
NM_006904.7(PRKDC):c.2260-17T>C
|
rs56408166
|
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.3848-7C>T
|
rs747769454
|
0.00003
|
NM_006904.7(PRKDC):c.4320C>T (p.Asp1440=)
|
rs1299478573
|
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.6208-4G>A
|
rs536722859
|
0.00003
|
NM_006904.7(PRKDC):c.6810C>T (p.Asn2270=)
|
rs751232985
|
0.00003
|
NM_006904.7(PRKDC):c.7731C>T (p.Phe2577=)
|
rs754766347
|
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.9112-5C>T
|
rs1011493641
|
0.00003
|
NM_006904.7(PRKDC):c.9336+20A>G
|
rs1438755115
|
0.00003
|
NM_024782.3(NHEJ1):c.468A>G (p.Leu156=)
|
rs768115441
|
0.00003
|
NM_206937.2(LIG4):c.1791C>T (p.Asp597=)
|
rs144253952
|
0.00003
|
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)
|
rs529756815
|
0.00003
|
NM_206937.2(LIG4):c.2355C>T (p.Asn785=)
|
rs148223505
|
0.00003
|
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.363-8T>G
|
rs1015455929
|
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.781-12C>T
|
rs773016155
|
0.00002
|
NM_000022.4(ADA):c.781-9C>T
|
rs769511813
|
0.00002
|
NM_000448.3(RAG1):c.1236G>A (p.Arg412=)
|
rs373408080
|
0.00002
|
NM_000448.3(RAG1):c.258G>A (p.Lys86=)
|
rs755158171
|
0.00002
|
NM_000448.3(RAG1):c.378A>G (p.Arg126=)
|
rs748499180
|
0.00002
|
NM_000448.3(RAG1):c.750G>A (p.Lys250=)
|
rs1295860140
|
0.00002
|
NM_000536.4(RAG2):c.1029C>T (p.Phe343=)
|
rs747177680
|
0.00002
|
NM_000536.4(RAG2):c.1191T>C (p.Asp397=)
|
rs752248630
|
0.00002
|
NM_000536.4(RAG2):c.140A>T (p.His47Leu)
|
rs776913146
|
0.00002
|
NM_000536.4(RAG2):c.174G>A (p.Lys58=)
|
rs202020106
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1056C>T (p.Val352=)
|
rs765407675
|
0.00002
|
NM_001033855.3(DCLRE1C):c.110-7T>G
|
rs930637788
|
0.00002
|
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
|
rs532892332
|
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.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.597C>T (p.Tyr199=)
|
rs121908157
|
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.498C>T (p.Asp166=)
|
rs747101216
|
0.00002
|
NM_001625.4(AK2):c.57G>A (p.Val19=)
|
rs371268140
|
0.00002
|
NM_002872.5(RAC2):c.192C>T (p.Tyr64=)
|
rs772302068
|
0.00002
|
NM_002872.5(RAC2):c.276C>T (p.Asn92=)
|
rs768931430
|
0.00002
|
NM_002872.5(RAC2):c.525C>T (p.Ala175=)
|
rs575699146
|
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.1449C>T (p.Asp483=)
|
rs542519367
|
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.100C>T (p.Leu34=)
|
rs768449225
|
0.00002
|
NM_006904.7(PRKDC):c.1086T>C (p.Ala362=)
|
rs747469563
|
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.11814C>T (p.Ile3938=)
|
rs750761283
|
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.1465A>C (p.Arg489=)
|
rs1283991208
|
0.00002
|
NM_006904.7(PRKDC):c.154+10G>T
|
rs1171518721
|
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.2979C>T (p.His993=)
|
rs55778266
|
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.4917C>T (p.Leu1639=)
|
rs529999429
|
0.00002
|
NM_006904.7(PRKDC):c.5067+14_5067+15insCA
|
rs767743293
|
0.00002
|
NM_006904.7(PRKDC):c.5202G>A (p.Pro1734=)
|
rs774534796
|
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.6135C>T (p.Phe2045=)
|
rs781184930
|
0.00002
|
NM_006904.7(PRKDC):c.6208-5C>T
|
rs754905856
|
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.6483G>A (p.Ala2161=)
|
rs761604517
|
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.7782T>C (p.Asp2594=)
|
rs373960418
|
0.00002
|
NM_006904.7(PRKDC):c.7914C>T (p.Thr2638=)
|
rs1315268731
|
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.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_024782.3(NHEJ1):c.465G>A (p.Thr155=)
|
rs374664084
|
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.1692C>T (p.Ile564=)
|
rs750170673
|
0.00002
|
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
|
rs764483419
|
0.00002
|
NM_206937.2(LIG4):c.2445C>A (p.Arg815=)
|
rs755419375
|
0.00002
|
NM_206937.2(LIG4):c.570C>T (p.Ile190=)
|
rs141102614
|
0.00002
|
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.186G>A (p.Leu62=)
|
rs767064067
|
0.00001
|
NM_000022.4(ADA):c.216C>T (p.Ile72=)
|
rs769218320
|
0.00001
|
NM_000022.4(ADA):c.218+10C>T
|
rs372418784
|
0.00001
|
NM_000022.4(ADA):c.312G>A (p.Pro104=)
|
rs765878819
|
0.00001
|
NM_000022.4(ADA):c.33+13G>C
|
rs762896507
|
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.363-12C>G
|
rs367574074
|
0.00001
|
NM_000022.4(ADA):c.363-16T>C
|
rs1314647942
|
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.432C>T (p.Phe144=)
|
rs374413123
|
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.504G>A (p.Leu168=)
|
rs759425144
|
0.00001
|
NM_000022.4(ADA):c.507T>C (p.Cys169=)
|
rs1784751932
|
0.00001
|
NM_000022.4(ADA):c.606+9T>C
|
rs2065360149
|
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.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.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.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00001
|
NM_000022.4(ADA):c.942C>T (p.Asp314=)
|
rs1398609180
|
0.00001
|
NM_000448.3(RAG1):c.1239G>A (p.Glu413=)
|
rs1850807745
|
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.1632A>G (p.Leu544=)
|
rs762586430
|
0.00001
|
NM_000448.3(RAG1):c.1974G>A (p.Leu658=)
|
rs1481299078
|
0.00001
|
NM_000448.3(RAG1):c.2082G>A (p.Leu694=)
|
rs1850828097
|
0.00001
|
NM_000448.3(RAG1):c.2124C>T (p.Thr708=)
|
rs578086152
|
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.2325G>A (p.Leu775=)
|
rs766907859
|
0.00001
|
NM_000448.3(RAG1):c.2481G>A (p.Glu827=)
|
rs1304782664
|
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.2991C>T (p.Tyr997=)
|
rs368169159
|
0.00001
|
NM_000448.3(RAG1):c.3084A>G (p.Pro1028=)
|
rs1238573903
|
0.00001
|
NM_000448.3(RAG1):c.47A>G (p.Asp16Gly)
|
rs751834545
|
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.831G>A (p.Lys277=)
|
rs1376996089
|
0.00001
|
NM_000448.3(RAG1):c.996A>T (p.Arg332=)
|
rs1428825905
|
0.00001
|
NM_000536.4(RAG2):c.1131C>T (p.Pro377=)
|
rs777940606
|
0.00001
|
NM_000536.4(RAG2):c.1209T>C (p.Asn403=)
|
rs1351286949
|
0.00001
|
NM_000536.4(RAG2):c.1323C>T (p.Pro441=)
|
rs370624669
|
0.00001
|
NM_000536.4(RAG2):c.1365T>C (p.His455=)
|
rs369276846
|
0.00001
|
NM_000536.4(RAG2):c.1404T>C (p.His468=)
|
rs528679382
|
0.00001
|
NM_000536.4(RAG2):c.1431C>T (p.Tyr477=)
|
rs750878183
|
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.288G>A (p.Gly96=)
|
rs1312473059
|
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.528T>C (p.Ala176=)
|
rs762907049
|
0.00001
|
NM_000536.4(RAG2):c.63G>A (p.Leu21=)
|
rs142797325
|
0.00001
|
NM_000536.4(RAG2):c.687G>A (p.Arg229=)
|
rs772031809
|
0.00001
|
NM_000536.4(RAG2):c.750A>G (p.Thr250=)
|
rs747690737
|
0.00001
|
NM_000536.4(RAG2):c.756G>A (p.Leu252=)
|
rs751957269
|
0.00001
|
NM_000536.4(RAG2):c.996A>G (p.Pro332=)
|
rs771084047
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1014T>C (p.Tyr338=)
|
rs748925672
|
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.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.162-10T>C
|
rs772500940
|
0.00001
|
NM_001033855.3(DCLRE1C):c.162-6T>C
|
rs1337543848
|
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.1734C>T (p.Tyr578=)
|
rs755018546
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1749A>G (p.Lys583=)
|
rs1262216079
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=)
|
rs749159797
|
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.246+10A>G
|
rs374757450
|
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.306+13T>G
|
rs371265213
|
0.00001
|
NM_001033855.3(DCLRE1C):c.30G>A (p.Glu10=)
|
rs768356794
|
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.450G>A (p.Leu150=)
|
rs1392587173
|
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.501G>A (p.Thr167=)
|
rs750407775
|
0.00001
|
NM_001033855.3(DCLRE1C):c.519T>C (p.Phe173=)
|
rs1435457844
|
0.00001
|
NM_001033855.3(DCLRE1C):c.538-4C>T
|
rs1049747642
|
0.00001
|
NM_001033855.3(DCLRE1C):c.606G>A (p.Val202=)
|
rs781179035
|
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.781-6T>C
|
rs1243099678
|
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_001625.4(AK2):c.162G>A (p.Val54=)
|
rs1227843304
|
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.499-13T>C
|
rs749143789
|
0.00001
|
NM_001625.4(AK2):c.499-5C>T
|
rs1421627521
|
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.289-18C>T
|
rs1927057532
|
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.449-9C>T
|
rs1420203399
|
0.00001
|
NM_002872.5(RAC2):c.510C>T (p.Asp170=)
|
rs752897291
|
0.00001
|
NM_002872.5(RAC2):c.579G>A (p.Ter193=)
|
rs371789770
|
0.00001
|
NM_005356.5(LCK):c.1113G>C (p.Leu371=)
|
rs899084689
|
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.348G>T (p.Val116=)
|
rs777531211
|
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.482-6A>T
|
rs550203611
|
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_006904.7(PRKDC):c.10164T>C (p.Ala3388=)
|
rs777478776
|
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.10500C>T (p.Ser3500=)
|
rs180843988
|
0.00001
|
NM_006904.7(PRKDC):c.1062G>A (p.Ser354=)
|
rs377710279
|
0.00001
|
NM_006904.7(PRKDC):c.10759-12T>G
|
rs901770979
|
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.11505G>A (p.Pro3835=)
|
rs775766242
|
0.00001
|
NM_006904.7(PRKDC):c.1155C>T (p.Tyr385=)
|
rs774869533
|
0.00001
|
NM_006904.7(PRKDC):c.11724C>T (p.His3908=)
|
rs776511532
|
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.11844C>T (p.Ser3948=)
|
rs774140694
|
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.12183-5T>C
|
rs762534386
|
0.00001
|
NM_006904.7(PRKDC):c.12216T>A (p.Pro4072=)
|
rs570143368
|
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.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.154+18C>T
|
rs970459273
|
0.00001
|
NM_006904.7(PRKDC):c.1560G>A (p.Lys520=)
|
rs2090304492
|
0.00001
|
NM_006904.7(PRKDC):c.1776+14A>G
|
rs376854660
|
0.00001
|
NM_006904.7(PRKDC):c.189C>T (p.Phe63=)
|
rs372416216
|
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.2140-19T>C
|
rs369391050
|
0.00001
|
NM_006904.7(PRKDC):c.2196T>C (p.Phe732=)
|
rs757608691
|
0.00001
|
NM_006904.7(PRKDC):c.2244C>T (p.Tyr748=)
|
rs534226541
|
0.00001
|
NM_006904.7(PRKDC):c.2260-4A>G
|
rs748443766
|
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.2664A>G (p.Arg888=)
|
rs759906865
|
0.00001
|
NM_006904.7(PRKDC):c.2886T>C (p.Tyr962=)
|
rs753915221
|
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.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.34C>T (p.Leu12=)
|
rs1215593528
|
0.00001
|
NM_006904.7(PRKDC):c.3525T>C (p.His1175=)
|
rs2089596531
|
0.00001
|
NM_006904.7(PRKDC):c.3648T>A (p.Gly1216=)
|
rs750205056
|
0.00001
|
NM_006904.7(PRKDC):c.3723C>T (p.Leu1241=)
|
rs773205939
|
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.3807G>A (p.Thr1269=)
|
rs913376685
|
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.4071+15T>C
|
rs1455703540
|
0.00001
|
NM_006904.7(PRKDC):c.4164C>T (p.Asp1388=)
|
rs753755880
|
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.4280+13G>T
|
rs1252539119
|
0.00001
|
NM_006904.7(PRKDC):c.4572+17T>A
|
rs755426893
|
0.00001
|
NM_006904.7(PRKDC):c.4738T>C (p.Leu1580=)
|
rs1036833509
|
0.00001
|
NM_006904.7(PRKDC):c.4794C>T (p.Asn1598=)
|
rs781344880
|
0.00001
|
NM_006904.7(PRKDC):c.5001A>G (p.Ser1667=)
|
rs748012286
|
0.00001
|
NM_006904.7(PRKDC):c.504T>C (p.Asp168=)
|
rs748204372
|
0.00001
|
NM_006904.7(PRKDC):c.5166C>T (p.Phe1722=)
|
rs759792953
|
0.00001
|
NM_006904.7(PRKDC):c.5235+15G>C
|
rs745639563
|
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.5925G>A (p.Leu1975=)
|
rs1365370162
|
0.00001
|
NM_006904.7(PRKDC):c.5986-5A>C
|
rs776580122
|
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.6201G>A (p.Arg2067=)
|
rs745971291
|
0.00001
|
NM_006904.7(PRKDC):c.621+13T>G
|
rs777492908
|
0.00001
|
NM_006904.7(PRKDC):c.6288C>T (p.Pro2096=)
|
rs367613899
|
0.00001
|
NM_006904.7(PRKDC):c.6414A>T (p.Val2138=)
|
rs946805909
|
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.6759T>C (p.Tyr2253=)
|
rs755959674
|
0.00001
|
NM_006904.7(PRKDC):c.6893+12del
|
rs772087267
|
0.00001
|
NM_006904.7(PRKDC):c.693G>C (p.Leu231=)
|
rs751059836
|
0.00001
|
NM_006904.7(PRKDC):c.7005+17A>G
|
rs760272282
|
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.7371C>T (p.Pro2457=)
|
rs1037182844
|
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.7454+10A>C
|
rs375096742
|
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.7812G>A (p.Pro2604=)
|
rs763035246
|
0.00001
|
NM_006904.7(PRKDC):c.7842C>T (p.Gly2614=)
|
rs1367456571
|
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.7951+18C>T
|
rs748798585
|
0.00001
|
NM_006904.7(PRKDC):c.822A>G (p.Leu274=)
|
rs974404055
|
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.8577+14A>G
|
rs559466980
|
0.00001
|
NM_006904.7(PRKDC):c.8577+9del
|
rs759527181
|
0.00001
|
NM_006904.7(PRKDC):c.8613C>T (p.Leu2871=)
|
rs750522094
|
0.00001
|
NM_006904.7(PRKDC):c.8682G>A (p.Glu2894=)
|
rs371448868
|
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.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.924G>A (p.Leu308=)
|
rs770392874
|
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.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.9603A>G (p.Pro3201=)
|
rs1238612162
|
0.00001
|
NM_006904.7(PRKDC):c.9612T>C (p.Asn3204=)
|
rs1358604121
|
0.00001
|
NM_006904.7(PRKDC):c.967-20del
|
rs1433316798
|
0.00001
|
NM_006904.7(PRKDC):c.9858C>T (p.Cys3286=)
|
rs750682248
|
0.00001
|
NM_006904.7(PRKDC):c.9923-12T>G
|
rs1440115966
|
0.00001
|
NM_006904.7(PRKDC):c.9923-18del
|
rs2087097139
|
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.529+8G>C
|
rs376407655
|
0.00001
|
NM_024782.3(NHEJ1):c.529+9A>T
|
rs749513419
|
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.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.1353A>G (p.Lys451=)
|
rs750628490
|
0.00001
|
NM_206937.2(LIG4):c.1509C>G (p.Leu503=)
|
rs1878402671
|
0.00001
|
NM_206937.2(LIG4):c.1564T>C (p.Leu522=)
|
rs752670480
|
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.1710T>C (p.Tyr570=)
|
rs763222026
|
0.00001
|
NM_206937.2(LIG4):c.1884G>T (p.Arg628=)
|
rs199635003
|
0.00001
|
NM_206937.2(LIG4):c.1953C>T (p.Asn651=)
|
rs780588115
|
0.00001
|
NM_206937.2(LIG4):c.2202C>T (p.Ser734=)
|
rs369333400
|
0.00001
|
NM_206937.2(LIG4):c.2289T>C (p.Asp763=)
|
rs1371479521
|
0.00001
|
NM_206937.2(LIG4):c.2451C>T (p.Thr817=)
|
rs757299963
|
0.00001
|
NM_206937.2(LIG4):c.2643T>C (p.Thr881=)
|
rs749470898
|
0.00001
|
NM_206937.2(LIG4):c.321C>T (p.Leu107=)
|
rs751434618
|
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.507G>A (p.Lys169=)
|
rs1265921681
|
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.864T>C (p.Tyr288=)
|
rs797045681
|
0.00001
|
NM_206937.2(LIG4):c.879A>G (p.Arg293=)
|
rs1332467911
|
0.00001
|
NM_000022.4(ADA):c.1011A>G (p.Glu337=)
|
|
|
NM_000022.4(ADA):c.1020G>A (p.Lys340=)
|
rs761572884
|
|
NM_000022.4(ADA):c.1023G>A (p.Arg341=)
|
|
|
NM_000022.4(ADA):c.1026G>A (p.Glu342=)
|
|
|
NM_000022.4(ADA):c.1035C>T (p.Asp345=)
|
|
|
NM_000022.4(ADA):c.1038G>A (p.Leu346=)
|
rs2123507798
|
|
NM_000022.4(ADA):c.1078+14T>A
|
|
|
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.1079-16C>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.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.150T>C (p.Ile50=)
|
|
|
NM_000022.4(ADA):c.153C>T (p.Gly51=)
|
|
|
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.177A>T (p.Pro59=)
|
rs2145324680
|
|
NM_000022.4(ADA):c.184C>T (p.Leu62=)
|
|
|
NM_000022.4(ADA):c.201C>T (p.Tyr67=)
|
rs1419063255
|
|
NM_000022.4(ADA):c.210T>C (p.Pro70=)
|
|
|
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+20C>T
|
|
|
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.219-8C>T
|
rs2065385208
|
|
NM_000022.4(ADA):c.219-9C>T
|
|
|
NM_000022.4(ADA):c.222C>A (p.Gly74=)
|
rs2145320054
|
|
NM_000022.4(ADA):c.225C>T (p.Cys75=)
|
|
|
NM_000022.4(ADA):c.234T>C (p.Ala78=)
|
rs2145320017
|
|
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.279G>A (p.Glu93=)
|
|
|
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.303G>C (p.Arg101=)
|
rs1452724917
|
|
NM_000022.4(ADA):c.315C>T (p.His105=)
|
|
|
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.34-10C>T
|
|
|
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.348C>G (p.Pro116=)
|
rs2145319670
|
|
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.363-11T>C
|
|
|
NM_000022.4(ADA):c.372C>T (p.Leu124=)
|
|
|
NM_000022.4(ADA):c.375C>T (p.Thr125=)
|
|
|
NM_000022.4(ADA):c.399G>A (p.Val133=)
|
rs2145318189
|
|
NM_000022.4(ADA):c.408C>A (p.Gly136=)
|
|
|
NM_000022.4(ADA):c.411G>T (p.Leu137=)
|
|
|
NM_000022.4(ADA):c.424C>A (p.Arg142=)
|
|
|
NM_000022.4(ADA):c.435G>C (p.Gly145=)
|
rs1268573720
|
|
NM_000022.4(ADA):c.445C>A (p.Arg149=)
|
rs121908733
|
|
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+20T>G
|
|
|
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.479-6C>T
|
|
|
NM_000022.4(ADA):c.479-7C>T
|
|
|
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.516C>T (p.Tyr172=)
|
|
|
NM_000022.4(ADA):c.528C>G (p.Thr176=)
|
rs780518207
|
|
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.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.573C>T (p.Ser191=)
|
rs1469122145
|
|
NM_000022.4(ADA):c.600C>A (p.Ala200=)
|
rs2145315464
|
|
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+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.636T>C (p.Thr212=)
|
|
|
NM_000022.4(ADA):c.645C>G (p.Ala215=)
|
|
|
NM_000022.4(ADA):c.648G>A (p.Gly216=)
|
rs1568843748
|
|
NM_000022.4(ADA):c.654G>T (p.Val218=)
|
|
|
NM_000022.4(ADA):c.660G>C (p.Ser220=)
|
rs147038410
|
|
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.679-7T>C
|
|
|
NM_000022.4(ADA):c.693C>G (p.Leu231=)
|
|
|
NM_000022.4(ADA):c.703C>A (p.Arg235=)
|
|
|
NM_000022.4(ADA):c.705G>C (p.Arg235=)
|
rs2123518248
|
|
NM_000022.4(ADA):c.706C>T (p.Leu236=)
|
|
|
NM_000022.4(ADA):c.708G>A (p.Leu236=)
|
rs757155433
|
|
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.741C>T (p.Ala247=)
|
|
|
NM_000022.4(ADA):c.747T>C (p.Tyr249=)
|
rs2123518034
|
|
NM_000022.4(ADA):c.753G>A (p.Arg251=)
|
|
|
NM_000022.4(ADA):c.757C>A (p.Arg253=)
|
rs201944717
|
|
NM_000022.4(ADA):c.765A>G (p.Glu255=)
|
rs761098217
|
|
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+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.781-4C>T
|
rs374812597
|
|
NM_000022.4(ADA):c.781-8T>C
|
|
|
NM_000022.4(ADA):c.781-8T>G
|
|
|
NM_000022.4(ADA):c.795C>T (p.Ser265=)
|
rs1318848804
|
|
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.822G>T (p.Pro274=)
|
rs562095440
|
|
NM_000022.4(ADA):c.825C>T (p.Asp275=)
|
rs778167423
|
|
NM_000022.4(ADA):c.831G>A (p.Glu277=)
|
|
|
NM_000022.4(ADA):c.837A>G (p.Ala279=)
|
|
|
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.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.861G>A (p.Gln287=)
|
|
|
NM_000022.4(ADA):c.870C>T (p.Tyr290=)
|
rs2065327638
|
|
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.894C>T (p.Leu298=)
|
|
|
NM_000022.4(ADA):c.906C>T (p.Ser302=)
|
rs2123510993
|
|
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.939G>C (p.Arg313=)
|
rs2123510810
|
|
NM_000022.4(ADA):c.93C>A (p.Gly31=)
|
|
|
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.954T>C (p.Thr318=)
|
|
|
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.96-6T>C
|
|
|
NM_000022.4(ADA):c.96-7T>C
|
rs2145324973
|
|
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+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.976-4C>G
|
rs757375351
|
|
NM_000022.4(ADA):c.976-8C>A
|
rs2123508190
|
|
NM_000022.4(ADA):c.976-9C>G
|
|
|
NM_000022.4(ADA):c.99G>A (p.Arg33=)
|
rs1357860118
|
|
NM_000448.3(RAG1):c.1014T>C (p.Thr338=)
|
|
|
NM_000448.3(RAG1):c.1020G>A (p.Leu340=)
|
rs766653036
|
|
NM_000448.3(RAG1):c.1029A>G (p.Pro343=)
|
|
|
NM_000448.3(RAG1):c.1032G>A (p.Val344=)
|
rs2133294964
|
|
NM_000448.3(RAG1):c.1044G>A (p.Leu348=)
|
|
|
NM_000448.3(RAG1):c.1047C>T (p.Ser349=)
|
|
|
NM_000448.3(RAG1):c.105G>A (p.Val35=)
|
|
|
NM_000448.3(RAG1):c.1104T>C (p.Ser368=)
|
|
|
NM_000448.3(RAG1):c.1116T>C (p.Tyr372=)
|
|
|
NM_000448.3(RAG1):c.117A>G (p.Glu39=)
|
rs2133292749
|
|
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.1213A>C (p.Arg405=)
|
|
|
NM_000448.3(RAG1):c.1231C>T (p.Leu411=)
|
|
|
NM_000448.3(RAG1):c.1233G>C (p.Leu411=)
|
|
|
NM_000448.3(RAG1):c.1246C>T (p.Leu416=)
|
rs746944981
|
|
NM_000448.3(RAG1):c.126T>C (p.Pro42=)
|
|
|
NM_000448.3(RAG1):c.1296C>T (p.Ser432=)
|
rs977419597
|
|
NM_000448.3(RAG1):c.129A>G (p.Glu43=)
|
|
|
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.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.135T>G (p.Ala45=)
|
|
|
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.1440C>T (p.Ser480=)
|
rs2133295757
|
|
NM_000448.3(RAG1):c.1452C>T (p.Tyr484=)
|
rs1479971460
|
|
NM_000448.3(RAG1):c.1470T>C (p.Thr490=)
|
|
|
NM_000448.3(RAG1):c.1485A>G (p.Thr495=)
|
|
|
NM_000448.3(RAG1):c.1488G>A (p.Gly496=)
|
|
|
NM_000448.3(RAG1):c.150G>A (p.Lys50=)
|
rs1590701604
|
|
NM_000448.3(RAG1):c.1519C>A (p.Arg507=)
|
|
|
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>T (p.His518=)
|
|
|
NM_000448.3(RAG1):c.1608C>T (p.Gly536=)
|
|
|
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>T (p.Tyr551=)
|
|
|
NM_000448.3(RAG1):c.1677G>A (p.Arg559=)
|
|
|
NM_000448.3(RAG1):c.1692A>C (p.Ser564=)
|
|
|
NM_000448.3(RAG1):c.1696T>C (p.Leu566=)
|
|
|
NM_000448.3(RAG1):c.1746A>G (p.Arg582=)
|
|
|
NM_000448.3(RAG1):c.174T>C (p.Ser58=)
|
|
|
NM_000448.3(RAG1):c.175C>T (p.Leu59=)
|
|
|
NM_000448.3(RAG1):c.1767C>T (p.Tyr589=)
|
|
|
NM_000448.3(RAG1):c.1768C>T (p.Leu590=)
|
|
|
NM_000448.3(RAG1):c.1836T>C (p.His612=)
|
|
|
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.1884A>T (p.Thr628=)
|
|
|
NM_000448.3(RAG1):c.189A>T (p.Pro63=)
|
|
|
NM_000448.3(RAG1):c.1902T>C (p.Ile634=)
|
|
|
NM_000448.3(RAG1):c.1980T>C (p.Leu660=)
|
|
|
NM_000448.3(RAG1):c.1989A>C (p.Ala663=)
|
|
|
NM_000448.3(RAG1):c.2010G>A (p.Thr670=)
|
|
|
NM_000448.3(RAG1):c.2011C>T (p.Leu671=)
|
rs2133296754
|
|
NM_000448.3(RAG1):c.2076T>C (p.Leu692=)
|
|
|
NM_000448.3(RAG1):c.2088C>A (p.Gly696=)
|
|
|
NM_000448.3(RAG1):c.2112C>T (p.Ile704=)
|
|
|
NM_000448.3(RAG1):c.2118G>A (p.Arg706=)
|
rs2133296964
|
|
NM_000448.3(RAG1):c.2139A>G (p.Lys713=)
|
|
|
NM_000448.3(RAG1):c.213T>C (p.Gly71=)
|
|
|
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.2196T>C (p.Leu732=)
|
|
|
NM_000448.3(RAG1):c.219G>A (p.Lys73=)
|
|
|
NM_000448.3(RAG1):c.2202T>C (p.Asp734=)
|
rs2133297123
|
|
NM_000448.3(RAG1):c.2235C>T (p.Val745=)
|
rs1850831770
|
|
NM_000448.3(RAG1):c.2250C>G (p.Thr750=)
|
|
|
NM_000448.3(RAG1):c.2256C>T (p.Ser752=)
|
|
|
NM_000448.3(RAG1):c.2286C>G (p.Val762=)
|
|
|
NM_000448.3(RAG1):c.228A>G (p.Pro76=)
|
|
|
NM_000448.3(RAG1):c.2307T>C (p.His769=)
|
|
|
NM_000448.3(RAG1):c.2313T>C (p.Ser771=)
|
|
|
NM_000448.3(RAG1):c.2326C>A (p.Arg776=)
|
|
|
NM_000448.3(RAG1):c.2332C>A (p.Arg778=)
|
|
|
NM_000448.3(RAG1):c.2343G>A (p.Gly781=)
|
|
|
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.2418G>A (p.Glu806=)
|
|
|
NM_000448.3(RAG1):c.2439A>G (p.Leu813=)
|
|
|
NM_000448.3(RAG1):c.243A>G (p.Leu81=)
|
|
|
NM_000448.3(RAG1):c.2448G>A (p.Gly816=)
|
rs1850836600
|
|
NM_000448.3(RAG1):c.2463T>C (p.Asn821=)
|
|
|
NM_000448.3(RAG1):c.2490A>G (p.Lys830=)
|
|
|
NM_000448.3(RAG1):c.2506C>T (p.Leu836=)
|
rs757133059
|
|
NM_000448.3(RAG1):c.2520C>G (p.Leu840=)
|
|
|
NM_000448.3(RAG1):c.252C>T (p.His84=)
|
|
|
NM_000448.3(RAG1):c.2551A>C (p.Arg851=)
|
|
|
NM_000448.3(RAG1):c.2580C>T (p.Leu860=)
|
|
|
NM_000448.3(RAG1):c.2598G>A (p.Val866=)
|
|
|
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.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.2668C>T (p.Leu890=)
|
|
|
NM_000448.3(RAG1):c.2685A>G (p.Val895=)
|
|
|
NM_000448.3(RAG1):c.2700C>T (p.Cys900=)
|
|
|
NM_000448.3(RAG1):c.2730C>T (p.Cys910=)
|
|
|
NM_000448.3(RAG1):c.2736C>T (p.Tyr912=)
|
|
|
NM_000448.3(RAG1):c.2742C>T (p.Phe914=)
|
|
|
NM_000448.3(RAG1):c.2745T>C (p.Asn915=)
|
|
|
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.27G>A (p.Leu9=)
|
|
|
NM_000448.3(RAG1):c.2805C>T (p.Ile935=)
|
|
|
NM_000448.3(RAG1):c.2808C>T (p.Thr936=)
|
|
|
NM_000448.3(RAG1):c.2832C>A (p.Ala944=)
|
|
|
NM_000448.3(RAG1):c.2832C>G (p.Ala944=)
|
rs756495943
|
|
NM_000448.3(RAG1):c.2835T>C (p.His945=)
|
|
|
NM_000448.3(RAG1):c.2889A>G (p.Gly963=)
|
|
|
NM_000448.3(RAG1):c.2904C>T (p.Asn968=)
|
|
|
NM_000448.3(RAG1):c.2910G>A (p.Leu970=)
|
|
|
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.2949A>G (p.Lys983=)
|
|
|
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=)
|
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|
NM_000448.3(RAG1):c.2994C>T (p.Thr998=)
|
|
|
NM_000448.3(RAG1):c.3012G>A (p.Lys1004=)
|
rs1850850830
|
|
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.3054C>T (p.Thr1018=)
|
|
|
NM_000448.3(RAG1):c.3060C>T (p.Asn1020=)
|
|
|
NM_000448.3(RAG1):c.3069A>G (p.Ala1023=)
|
|
|
NM_000448.3(RAG1):c.3078G>T (p.Gly1026=)
|
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|
NM_000448.3(RAG1):c.3081C>T (p.Asp1027=)
|
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|
NM_000448.3(RAG1):c.3084A>T (p.Pro1028=)
|
|
|
NM_000448.3(RAG1):c.3096G>A (p.Glu1032=)
|
|
|
NM_000448.3(RAG1):c.3103C>T (p.Leu1035=)
|
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|
NM_000448.3(RAG1):c.3120A>G (p.Ser1040=)
|
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|
NM_000448.3(RAG1):c.3126A>G (p.Glu1042=)
|
|
|
NM_000448.3(RAG1):c.375G>A (p.Arg125=)
|
|
|
NM_000448.3(RAG1):c.399G>A (p.Val133=)
|
rs1850785748
|
|
NM_000448.3(RAG1):c.412C>T (p.Leu138=)
|
|
|
NM_000448.3(RAG1):c.420T>C (p.Leu140=)
|
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|
NM_000448.3(RAG1):c.426A>C (p.Arg142=)
|
|
|
NM_000448.3(RAG1):c.432G>A (p.Lys144=)
|
rs144430517
|
|
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.468C>T (p.Ala156=)
|
rs2133293553
|
|
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.489G>A (p.Val163=)
|
|
|
NM_000448.3(RAG1):c.495A>C (p.Ala165=)
|
rs1288754505
|
|
NM_000448.3(RAG1):c.498T>C (p.Asp166=)
|
|
|
NM_000448.3(RAG1):c.506C>T (p.Ser169Leu)
|
rs4151027
|
|
NM_000448.3(RAG1):c.519T>A (p.Thr173=)
|
|
|
NM_000448.3(RAG1):c.522G>A (p.Glu174=)
|
|
|
NM_000448.3(RAG1):c.546C>T (p.Ile182=)
|
|
|
NM_000448.3(RAG1):c.558G>A (p.Lys186=)
|
|
|
NM_000448.3(RAG1):c.561T>C (p.Phe187=)
|
|
|
NM_000448.3(RAG1):c.570C>T (p.Ala190=)
|
|
|
NM_000448.3(RAG1):c.579G>A (p.Glu193=)
|
|
|
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.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.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.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.777C>T (p.Ser259=)
|
|
|
NM_000448.3(RAG1):c.78A>G (p.Ser26=)
|
rs1590701535
|
|
NM_000448.3(RAG1):c.798C>T (p.Ile266=)
|
|
|
NM_000448.3(RAG1):c.804C>T (p.Asn268=)
|
|
|
NM_000448.3(RAG1):c.825T>C (p.Ser275=)
|
|
|
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.870C>T (p.Ser290=)
|
|
|
NM_000448.3(RAG1):c.876C>A (p.Ser292=)
|
|
|
NM_000448.3(RAG1):c.888T>C (p.Cys296=)
|
|
|
NM_000448.3(RAG1):c.918C>G (p.Thr306=)
|
|
|
NM_000448.3(RAG1):c.924T>C (p.Cys308=)
|
|
|
NM_000448.3(RAG1):c.954C>T (p.Leu318=)
|
rs752257404
|
|
NM_000448.3(RAG1):c.963C>G (p.Leu321=)
|
|
|
NM_000448.3(RAG1):c.974G>A (p.Gly325Asp)
|
|
|
NM_000448.3(RAG1):c.9C>T (p.Ala3=)
|
|
|
NM_000536.4(RAG2):c.1005T>C (p.Asn335=)
|
|
|
NM_000536.4(RAG2):c.1020A>C (p.Ser340=)
|
rs2133312644
|
|
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu)
|
rs367615315
|
|
NM_000536.4(RAG2):c.1038T>C (p.Tyr346=)
|
rs1174918583
|
|
NM_000536.4(RAG2):c.1062T>C (p.Asp354=)
|
|
|
NM_000536.4(RAG2):c.1068T>C (p.Asn356=)
|
|
|
NM_000536.4(RAG2):c.111C>A (p.Pro37=)
|
rs1851104820
|
|
NM_000536.4(RAG2):c.1140C>T (p.Asp380=)
|
rs1851059503
|
|
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.1164A>G (p.Ala388=)
|
rs1230311707
|
|
NM_000536.4(RAG2):c.1221A>G (p.Glu407=)
|
rs2133311856
|
|
NM_000536.4(RAG2):c.1227T>C (p.Asp409=)
|
|
|
NM_000536.4(RAG2):c.1230G>A (p.Glu410=)
|
|
|
NM_000536.4(RAG2):c.1236G>A (p.Glu412=)
|
|
|
NM_000536.4(RAG2):c.123C>T (p.Cys41=)
|
|
|
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.1251T>A (p.Ile417=)
|
rs748248673
|
|
NM_000536.4(RAG2):c.1269T>C (p.Cys423=)
|
|
|
NM_000536.4(RAG2):c.126C>T (p.Pro42=)
|
|
|
NM_000536.4(RAG2):c.1284C>T (p.Asn428=)
|
rs2133311606
|
|
NM_000536.4(RAG2):c.129T>C (p.Thr43=)
|
|
|
NM_000536.4(RAG2):c.1308T>C (p.Thr436=)
|
|
|
NM_000536.4(RAG2):c.1326C>T (p.Ala442=)
|
rs1323571407
|
|
NM_000536.4(RAG2):c.1332C>A (p.Ile444=)
|
|
|
NM_000536.4(RAG2):c.1338C>T (p.Cys446=)
|
rs1564995660
|
|
NM_000536.4(RAG2):c.1344T>C (p.His448=)
|
rs2133311351
|
|
NM_000536.4(RAG2):c.1347G>A (p.Gly449=)
|
|
|
NM_000536.4(RAG2):c.1362C>T (p.Val454=)
|
rs2133311306
|
|
NM_000536.4(RAG2):c.1368T>G (p.Ala456=)
|
|
|
NM_000536.4(RAG2):c.1381C>T (p.Leu461=)
|
rs1342591484
|
|
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.1392C>T (p.Arg464=)
|
|
|
NM_000536.4(RAG2):c.1395A>C (p.Thr465=)
|
rs2133311165
|
|
NM_000536.4(RAG2):c.1405C>T (p.Leu469=)
|
|
|
NM_000536.4(RAG2):c.1413A>C (p.Ala471=)
|
|
|
NM_000536.4(RAG2):c.1449G>A (p.Glu483=)
|
|
|
NM_000536.4(RAG2):c.1461T>G (p.Ala487=)
|
|
|
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.1488C>T (p.Pro496=)
|
rs2133310869
|
|
NM_000536.4(RAG2):c.1491A>G (p.Leu497=)
|
rs2133310853
|
|
NM_000536.4(RAG2):c.1497G>A (p.Lys499=)
|
rs2133310820
|
|
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.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.1560C>T (p.Ser520=)
|
rs1310165990
|
|
NM_000536.4(RAG2):c.1566T>G (p.Leu522=)
|
rs2133310595
|
|
NM_000536.4(RAG2):c.1573T>C (p.Leu525=)
|
rs1851039823
|
|
NM_000536.4(RAG2):c.1575G>A (p.Leu525=)
|
|
|
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.180A>C (p.Thr60=)
|
|
|
NM_000536.4(RAG2):c.180A>G (p.Thr60=)
|
rs1345213365
|
|
NM_000536.4(RAG2):c.195T>C (p.Asp65=)
|
rs2133315880
|
|
NM_000536.4(RAG2):c.207C>G (p.Leu69=)
|
rs2133315845
|
|
NM_000536.4(RAG2):c.207C>T (p.Leu69=)
|
|
|
NM_000536.4(RAG2):c.21A>G (p.Thr7=)
|
|
|
NM_000536.4(RAG2):c.228C>T (p.Ala76=)
|
|
|
NM_000536.4(RAG2):c.231T>C (p.Thr77=)
|
rs2133315742
|
|
NM_000536.4(RAG2):c.237A>C (p.Thr79=)
|
|
|
NM_000536.4(RAG2):c.243A>G (p.Lys81=)
|
|
|
NM_000536.4(RAG2):c.24C>G (p.Val8=)
|
|
|
NM_000536.4(RAG2):c.24C>T (p.Val8=)
|
rs2133316604
|
|
NM_000536.4(RAG2):c.258T>C (p.Ser86=)
|
rs2133315667
|
|
NM_000536.4(RAG2):c.264G>A (p.Lys88=)
|
|
|
NM_000536.4(RAG2):c.270A>G (p.Gln90=)
|
|
|
NM_000536.4(RAG2):c.273C>T (p.Tyr91=)
|
|
|
NM_000536.4(RAG2):c.276C>A (p.Ile92=)
|
rs2133315563
|
|
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.336T>C (p.Ile112=)
|
rs2133315304
|
|
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.409A>C (p.Arg137=)
|
|
|
NM_000536.4(RAG2):c.429T>C (p.Asn143=)
|
rs2133314898
|
|
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.447G>A (p.Gly149=)
|
rs2133314798
|
|
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.480A>G (p.Ser160=)
|
rs1405801746
|
|
NM_000536.4(RAG2):c.483C>T (p.Tyr161=)
|
rs2133314575
|
|
NM_000536.4(RAG2):c.489T>G (p.Pro163=)
|
rs2133314533
|
|
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.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.543T>C (p.Cys181=)
|
rs1851083875
|
|
NM_000536.4(RAG2):c.558T>C (p.Asp186=)
|
rs2133314307
|
|
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.60A>G (p.Ser20=)
|
|
|
NM_000536.4(RAG2):c.624C>T (p.Val208=)
|
|
|
NM_000536.4(RAG2):c.642C>T (p.Asp214=)
|
|
|
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.666T>C (p.His222=)
|
|
|
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.684C>T (p.Ile228=)
|
rs145031483
|
|
NM_000536.4(RAG2):c.696C>T (p.Asn232=)
|
rs2133313876
|
|
NM_000536.4(RAG2):c.714T>C (p.Val238=)
|
|
|
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.726G>A (p.Leu242=)
|
|
|
NM_000536.4(RAG2):c.72T>C (p.Phe24=)
|
|
|
NM_000536.4(RAG2):c.747C>T (p.Cys249=)
|
|
|
NM_000536.4(RAG2):c.753C>T (p.Val251=)
|
|
|
NM_000536.4(RAG2):c.759A>G (p.Pro253=)
|
|
|
NM_000536.4(RAG2):c.75T>C (p.Asp25=)
|
rs2133316403
|
|
NM_000536.4(RAG2):c.771T>C (p.Ser257=)
|
|
|
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.822T>C (p.Val274=)
|
|
|
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.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.909G>A (p.Glu303=)
|
rs141025671
|
|
NM_000536.4(RAG2):c.915A>G (p.Pro305=)
|
rs751463938
|
|
NM_000536.4(RAG2):c.924C>G (p.Thr308=)
|
|
|
NM_000536.4(RAG2):c.930C>T (p.Asp310=)
|
rs2133312954
|
|
NM_000536.4(RAG2):c.936G>A (p.Lys312=)
|
|
|
NM_000536.4(RAG2):c.948A>C (p.Ile316=)
|
|
|
NM_000536.4(RAG2):c.987T>A (p.Leu329=)
|
|
|
NM_000536.4(RAG2):c.9G>C (p.Leu3=)
|
|
|
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.1035C>T (p.Gly345=)
|
rs2130785485
|
|
NM_001033855.3(DCLRE1C):c.1053T>C (p.Val351=)
|
rs758671214
|
|
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.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.110-12T>C
|
|
|
NM_001033855.3(DCLRE1C):c.110-16G>T
|
|
|
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.1104G>A (p.Lys368=)
|
|
|
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.1134T>C (p.Ala378=)
|
rs2130742136
|
|
NM_001033855.3(DCLRE1C):c.1149A>G (p.Arg383=)
|
|
|
NM_001033855.3(DCLRE1C):c.1156+20G>T
|
|
|
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.1170C>T (p.Asp390=)
|
|
|
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.1201T>C (p.Leu401=)
|
rs2131779956
|
|
NM_001033855.3(DCLRE1C):c.1203A>G (p.Leu401=)
|
rs765990122
|
|
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.1248T>C (p.Phe416=)
|
|
|
NM_001033855.3(DCLRE1C):c.1285C>T (p.Leu429=)
|
rs752137206
|
|
NM_001033855.3(DCLRE1C):c.1287G>A (p.Leu429=)
|
rs115081573
|
|
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.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.1341A>C (p.Thr447=)
|
rs775633789
|
|
NM_001033855.3(DCLRE1C):c.1362A>G (p.Glu454=)
|
|
|
NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del)
|
rs373709012
|
|
NM_001033855.3(DCLRE1C):c.1404A>G (p.Ser468=)
|
|
|
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.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.1440A>G (p.Gln480=)
|
|
|
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.1473A>G (p.Val491=)
|
|
|
NM_001033855.3(DCLRE1C):c.1500A>C (p.Thr500=)
|
rs2131776179
|
|
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.1536G>A (p.Val512=)
|
|
|
NM_001033855.3(DCLRE1C):c.1536G>T (p.Val512=)
|
rs2131775740
|
|
NM_001033855.3(DCLRE1C):c.1554A>G (p.Ser518=)
|
rs2131775529
|
|
NM_001033855.3(DCLRE1C):c.1557A>G (p.Pro519=)
|
rs2131775488
|
|
NM_001033855.3(DCLRE1C):c.1575T>C (p.Ser525=)
|
|
|
NM_001033855.3(DCLRE1C):c.1584A>G (p.Glu528=)
|
rs2131775195
|
|
NM_001033855.3(DCLRE1C):c.1590T>C (p.Thr530=)
|
|
|
NM_001033855.3(DCLRE1C):c.1596C>A (p.Ile532=)
|
|
|
NM_001033855.3(DCLRE1C):c.1599C>T (p.Ser533=)
|
rs2131775018
|
|
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+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.162-7C>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.1629A>C (p.Ile543=)
|
rs1282092460
|
|
NM_001033855.3(DCLRE1C):c.1650C>T (p.Gly550=)
|
|
|
NM_001033855.3(DCLRE1C):c.1662A>G (p.Gln554=)
|
rs886043100
|
|
NM_001033855.3(DCLRE1C):c.1668T>C (p.Asp556=)
|
|
|
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.1695A>G (p.Arg565=)
|
rs2131773917
|
|
NM_001033855.3(DCLRE1C):c.1704G>A (p.Gly568=)
|
rs2131773826
|
|
NM_001033855.3(DCLRE1C):c.1704G>C (p.Gly568=)
|
|
|
NM_001033855.3(DCLRE1C):c.1713T>C (p.Thr571=)
|
rs2131773687
|
|
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.1752G>A (p.Glu584=)
|
|
|
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.1770C>G (p.Leu590=)
|
rs2131772690
|
|
NM_001033855.3(DCLRE1C):c.1782T>C (p.Asn594=)
|
rs775980446
|
|
NM_001033855.3(DCLRE1C):c.1788T>C (p.Ile596=)
|
rs2131772475
|
|
NM_001033855.3(DCLRE1C):c.1806C>T (p.Tyr602=)
|
|
|
NM_001033855.3(DCLRE1C):c.1809T>G (p.Ser603=)
|
rs1834725809
|
|
NM_001033855.3(DCLRE1C):c.1824A>G (p.Arg608=)
|
|
|
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.1848T>C (p.Pro616=)
|
rs1338665936
|
|
NM_001033855.3(DCLRE1C):c.1869T>C (p.Thr623=)
|
|
|
NM_001033855.3(DCLRE1C):c.1878T>C (p.Ser626=)
|
|
|
NM_001033855.3(DCLRE1C):c.1893C>A (p.Pro631=)
|
rs41300676
|
|
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.1903dup (p.Ser635fs)
|
rs760288938
|
|
NM_001033855.3(DCLRE1C):c.1906T>C (p.Leu636=)
|
rs933422037
|
|
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.1971A>G (p.Pro657=)
|
rs2131769255
|
|
NM_001033855.3(DCLRE1C):c.1977T>A (p.Ala659=)
|
rs2131769178
|
|
NM_001033855.3(DCLRE1C):c.1980G>A (p.Glu660=)
|
rs747160002
|
|
NM_001033855.3(DCLRE1C):c.1992A>G (p.Arg664=)
|
rs1834685227
|
|
NM_001033855.3(DCLRE1C):c.1995G>A (p.Glu665=)
|
|
|
NM_001033855.3(DCLRE1C):c.1998T>C (p.His666=)
|
|
|
NM_001033855.3(DCLRE1C):c.2007T>C (p.Tyr669=)
|
|
|
NM_001033855.3(DCLRE1C):c.2010A>G (p.Leu670=)
|
|
|
NM_001033855.3(DCLRE1C):c.2019G>A (p.Lys673=)
|
|
|
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.2040A>T (p.Ile680=)
|
rs2131767938
|
|
NM_001033855.3(DCLRE1C):c.2046C>T (p.Val682=)
|
rs1455233498
|
|
NM_001033855.3(DCLRE1C):c.204G>A (p.Leu68=)
|
|
|
NM_001033855.3(DCLRE1C):c.2061C>T (p.Cys687=)
|
|
|
NM_001033855.3(DCLRE1C):c.207G>A (p.Leu69=)
|
rs2131108120
|
|
NM_001033855.3(DCLRE1C):c.208T>C (p.Leu70=)
|
|
|
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.246+15T>G
|
rs781019003
|
|
NM_001033855.3(DCLRE1C):c.246+16T>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.247-4A>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.252T>C (p.Ser84=)
|
rs2131027424
|
|
NM_001033855.3(DCLRE1C):c.252T>G (p.Ser84=)
|
rs2131027424
|
|
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.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+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.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.330C>G (p.Leu110=)
|
rs768414966
|
|
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=)
|
rs768414966
|
|
NM_001033855.3(DCLRE1C):c.331T>C (p.Leu111=)
|
rs377443609
|
|
NM_001033855.3(DCLRE1C):c.345C>T (p.His115=)
|
rs2130973480
|
|
NM_001033855.3(DCLRE1C):c.348T>C (p.Cys116=)
|
rs2130973416
|
|
NM_001033855.3(DCLRE1C):c.357A>C (p.Ser119=)
|
|
|
NM_001033855.3(DCLRE1C):c.357A>T (p.Ser119=)
|
rs757569484
|
|
NM_001033855.3(DCLRE1C):c.362+14T>A
|
|
|
NM_001033855.3(DCLRE1C):c.362+8G>C
|
rs1564446480
|
|
NM_001033855.3(DCLRE1C):c.363-15A>G
|
|
|
NM_001033855.3(DCLRE1C):c.363-23_363-15dup
|
|
|
NM_001033855.3(DCLRE1C):c.363-4T>C
|
|
|
NM_001033855.3(DCLRE1C):c.363-5T>C
|
|
|
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.414A>G (p.Arg138=)
|
|
|
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.453C>T (p.His151=)
|
|
|
NM_001033855.3(DCLRE1C):c.45C>A (p.Ser15=)
|
rs764872812
|
|
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+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.465-17A>G
|
|
|
NM_001033855.3(DCLRE1C):c.465-8C>A
|
rs1218480223
|
|
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.483T>C (p.Ser161=)
|
|
|
NM_001033855.3(DCLRE1C):c.489T>C (p.Tyr163=)
|
|
|
NM_001033855.3(DCLRE1C):c.490T>C (p.Leu164=)
|
rs1279014555
|
|
NM_001033855.3(DCLRE1C):c.495T>C (p.Asp165=)
|
|
|
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.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+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.538-6G>C
|
rs1322651521
|
|
NM_001033855.3(DCLRE1C):c.538-7T>C
|
rs1279224531
|
|
NM_001033855.3(DCLRE1C):c.538-9C>G
|
|
|
NM_001033855.3(DCLRE1C):c.543G>A (p.Glu181=)
|
|
|
NM_001033855.3(DCLRE1C):c.54C>T (p.Arg18=)
|
rs536637310
|
|
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.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.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.630T>C (p.Tyr210=)
|
rs1839557963
|
|
NM_001033855.3(DCLRE1C):c.633C>A (p.Gly211=)
|
|
|
NM_001033855.3(DCLRE1C):c.636T>C (p.Tyr212=)
|
|
|
NM_001033855.3(DCLRE1C):c.648C>T (p.Phe216=)
|
|
|
NM_001033855.3(DCLRE1C):c.651C>T (p.Thr217=)
|
rs1197869661
|
|
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+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.679-20G>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.706A>C (p.Arg236=)
|
|
|
NM_001033855.3(DCLRE1C):c.70C>T (p.Leu24=)
|
|
|
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.735C>T (p.Leu245=)
|
rs1839266310
|
|
NM_001033855.3(DCLRE1C):c.741A>C (p.Thr247=)
|
|
|
NM_001033855.3(DCLRE1C):c.753T>A (p.Thr251=)
|
|
|
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.768C>T (p.Cys256=)
|
rs1839257941
|
|
NM_001033855.3(DCLRE1C):c.774T>C (p.His258=)
|
|
|
NM_001033855.3(DCLRE1C):c.780+13G>C
|
|
|
NM_001033855.3(DCLRE1C):c.780+16_780+30del
|
|
|
NM_001033855.3(DCLRE1C):c.780+20C>T
|
|
|
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.781-20A>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.792T>C (p.Tyr264=)
|
|
|
NM_001033855.3(DCLRE1C):c.828C>T (p.Ser276=)
|
|
|
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.867A>G (p.Pro289=)
|
|
|
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.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+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.918-18_918-17del
|
|
|
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.936C>T (p.Tyr312=)
|
rs1268452853
|
|
NM_001033855.3(DCLRE1C):c.951T>C (p.Ser317=)
|
rs1206652720
|
|
NM_001033855.3(DCLRE1C):c.966C>T (p.Tyr322=)
|
|
|
NM_001033855.3(DCLRE1C):c.96C>T (p.Ser32=)
|
rs2131238252
|
|
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+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.996C>G (p.Leu332=)
|
rs2130785879
|
|
NM_001033855.3(DCLRE1C):c.9T>G (p.Ser3=)
|
|
|
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.165T>C (p.Ala55=)
|
|
|
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.220-5del
|
rs752085550
|
|
NM_001625.4(AK2):c.330+18T>C
|
|
|
NM_001625.4(AK2):c.331-12A>G
|
rs2124328960
|
|
NM_001625.4(AK2):c.331-15C>T
|
|
|
NM_001625.4(AK2):c.343A>T (p.Met115Leu)
|
rs552302095
|
|
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.429G>C (p.Leu143=)
|
|
|
NM_001625.4(AK2):c.453C>A (p.Ser151=)
|
|
|
NM_001625.4(AK2):c.465G>A (p.Glu155=)
|
|
|
NM_001625.4(AK2):c.471C>T (p.Asn157=)
|
|
|
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.60G>A (p.Leu20=)
|
rs1207555639
|
|
NM_001625.4(AK2):c.630C>T (p.Ile210=)
|
rs746330303
|
|
NM_001625.4(AK2):c.654C>T (p.Val218=)
|
rs765292604
|
|
NM_001625.4(AK2):c.87G>A (p.Gly29=)
|
|
|
NM_001625.4(AK2):c.94-8C>G
|
|
|
NM_001625.4(AK2):c.9C>T (p.Pro3=)
|
rs2124403783
|
|
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.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.183G>A (p.Gln61=)
|
|
|
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.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.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.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.289-6G>T
|
|
|
NM_002872.5(RAC2):c.333C>A (p.Ile111=)
|
|
|
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.369G>A (p.Lys123=)
|
|
|
NM_002872.5(RAC2):c.378C>T (p.Ile126=)
|
|
|
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+18A>C
|
|
|
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.45C>T (p.Gly15=)
|
|
|
NM_002872.5(RAC2):c.474A>G (p.Ser158=)
|
rs1195995740
|
|
NM_002872.5(RAC2):c.483C>T (p.Thr161=)
|
rs1601667909
|
|
NM_002872.5(RAC2):c.501C>G (p.Thr167=)
|
|
|
NM_002872.5(RAC2):c.520C>A (p.Arg174=)
|
|
|
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.546G>A (p.Thr182=)
|
|
|
NM_002872.5(RAC2):c.547C>A (p.Arg183=)
|
|
|
NM_002872.5(RAC2):c.54C>T (p.Cys18=)
|
|
|
NM_002872.5(RAC2):c.567C>T (p.Cys189=)
|
|
|
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_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.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.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.1128G>A (p.Leu376=)
|
|
|
NM_005356.5(LCK):c.1140T>C (p.Ile380=)
|
|
|
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.1196-11C>T
|
|
|
NM_005356.5(LCK):c.1196-8C>G
|
|
|
NM_005356.5(LCK):c.1196-9C>T
|
|
|
NM_005356.5(LCK):c.1224G>A (p.Ala408=)
|
|
|
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.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.1344G>A (p.Glu448=)
|
|
|
NM_005356.5(LCK):c.1353G>A (p.Gln451=)
|
|
|
NM_005356.5(LCK):c.1356C>T (p.Asn452=)
|
|
|
NM_005356.5(LCK):c.1362G>A (p.Glu454=)
|
|
|
NM_005356.5(LCK):c.1380G>A (p.Val460=)
|
|
|
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.1527TTGAGAGGCC[3] (p.Gln508_Ter510=)
|
rs768820203
|
|
NM_005356.5(LCK):c.15C>T (p.Cys5=)
|
|
|
NM_005356.5(LCK):c.188-17G>T
|
|
|
NM_005356.5(LCK):c.188-8del
|
|
|
NM_005356.5(LCK):c.192C>T (p.Asn64=)
|
|
|
NM_005356.5(LCK):c.222C>T (p.Pro74=)
|
rs768627081
|
|
NM_005356.5(LCK):c.255G>C (p.Gly85=)
|
|
|
NM_005356.5(LCK):c.279-4G>T
|
rs375477745
|
|
NM_005356.5(LCK):c.279-8T>C
|
|
|
NM_005356.5(LCK):c.297G>A (p.Lys99=)
|
rs2124353891
|
|
NM_005356.5(LCK):c.306C>T (p.Ser102=)
|
|
|
NM_005356.5(LCK):c.318C>T (p.Gly106=)
|
rs1640227427
|
|
NM_005356.5(LCK):c.333C>T (p.Ile111=)
|
rs942638932
|
|
NM_005356.5(LCK):c.357G>C (p.Ala119=)
|
rs778915733
|
|
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.474C>T (p.Ser158=)
|
rs1569954423
|
|
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.482-7C>T
|
rs2124356368
|
|
NM_005356.5(LCK):c.486G>A (p.Ser162=)
|
|
|
NM_005356.5(LCK):c.510C>T (p.Phe170=)
|
rs1396562316
|
|
NM_005356.5(LCK):c.564C>T (p.Asn188=)
|
rs1640255553
|
|
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.654A>T (p.Thr218=)
|
|
|
NM_005356.5(LCK):c.663C>T (p.Ser221=)
|
|
|
NM_005356.5(LCK):c.696G>A (p.Pro232=)
|
|
|
NM_005356.5(LCK):c.696G>C (p.Pro232=)
|
|
|
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.795C>T (p.Asn265=)
|
|
|
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.885G>C (p.Leu295=)
|
|
|
NM_005356.5(LCK):c.88C>T (p.Leu30=)
|
|
|
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.10026C>T (p.Ser3342=)
|
|
|
NM_006904.7(PRKDC):c.10053C>T (p.Ile3351=)
|
|
|
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.10122C>T (p.Ile3374=)
|
|
|
NM_006904.7(PRKDC):c.10173G>A (p.Ala3391=)
|
|
|
NM_006904.7(PRKDC):c.10227G>C (p.Val3409=)
|
|
|
NM_006904.7(PRKDC):c.10245G>A (p.Thr3415=)
|
|
|
NM_006904.7(PRKDC):c.10270C>T (p.Leu3424=)
|
|
|
NM_006904.7(PRKDC):c.10275C>T (p.Arg3425=)
|
rs1589703906
|
|
NM_006904.7(PRKDC):c.10293A>G (p.Ala3431=)
|
rs2087045863
|
|
NM_006904.7(PRKDC):c.10298-18C>T
|
|
|
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.1056G>A (p.Val352=)
|
|
|
NM_006904.7(PRKDC):c.10575C>T (p.Tyr3525=)
|
|
|
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.10635T>C (p.Thr3545=)
|
|
|
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.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.10759-9C>T
|
rs1298686465
|
|
NM_006904.7(PRKDC):c.10786C>T (p.Leu3596=)
|
rs1589696373
|
|
NM_006904.7(PRKDC):c.10842T>C (p.Tyr3614=)
|
rs925435577
|
|
NM_006904.7(PRKDC):c.10863G>A (p.Lys3621=)
|
|
|
NM_006904.7(PRKDC):c.10878G>A (p.Gly3626=)
|
|
|
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.10926A>G (p.Lys3642=)
|
rs1422293667
|
|
NM_006904.7(PRKDC):c.11013C>T (p.Asn3671=)
|
|
|
NM_006904.7(PRKDC):c.11028C>A (p.Pro3676=)
|
|
|
NM_006904.7(PRKDC):c.11028C>G (p.Pro3676=)
|
|
|
NM_006904.7(PRKDC):c.11083C>T (p.Leu3695=)
|
|
|
NM_006904.7(PRKDC):c.11100G>A (p.Glu3700=)
|
rs2154497614
|
|
NM_006904.7(PRKDC):c.11107+15A>G
|
|
|
NM_006904.7(PRKDC):c.11107+16G>C
|
rs2086768834
|
|
NM_006904.7(PRKDC):c.1110A>T (p.Ala370=)
|
rs370275761
|
|
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.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.11175+14T>G
|
|
|
NM_006904.7(PRKDC):c.11175+7G>A
|
|
|
NM_006904.7(PRKDC):c.11176-7T>G
|
|
|
NM_006904.7(PRKDC):c.11190G>A (p.Ala3730=)
|
|
|
NM_006904.7(PRKDC):c.11244C>T (p.His3748=)
|
|
|
NM_006904.7(PRKDC):c.11265C>T (p.Gly3755=)
|
|
|
NM_006904.7(PRKDC):c.11274G>A (p.Leu3758=)
|
|
|
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.11334C>T (p.Asp3778=)
|
|
|
NM_006904.7(PRKDC):c.11352G>A (p.Arg3784=)
|
|
|
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.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.11508G>A (p.Pro3836=)
|
rs375417206
|
|
NM_006904.7(PRKDC):c.11556T>C (p.Val3852=)
|
rs2154497368
|
|
NM_006904.7(PRKDC):c.11579+20T>G
|
|
|
NM_006904.7(PRKDC):c.11607G>A (p.Thr3869=)
|
|
|
NM_006904.7(PRKDC):c.11651+16C>T
|
rs1208206365
|
|
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.11667G>A (p.Arg3889=)
|
rs2154497349
|
|
NM_006904.7(PRKDC):c.11685G>A (p.Glu3895=)
|
rs2154497347
|
|
NM_006904.7(PRKDC):c.11688T>C (p.Ala3896=)
|
|
|
NM_006904.7(PRKDC):c.11712C>T (p.Phe3904=)
|
|
|
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.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.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.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.12042+7T>C
|
rs1164204177
|
|
NM_006904.7(PRKDC):c.12049G>C (p.Glu4017Gln)
|
rs375321876
|
|
NM_006904.7(PRKDC):c.12078A>G (p.Ser4026=)
|
|
|
NM_006904.7(PRKDC):c.12117C>T (p.Tyr4039=)
|
|
|
NM_006904.7(PRKDC):c.12150G>A (p.Lys4050=)
|
|
|
NM_006904.7(PRKDC):c.12156A>G (p.Ala4052=)
|
rs56395046
|
|
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.12219C>T (p.Ala4073=)
|
|
|
NM_006904.7(PRKDC):c.1221T>A (p.Val407=)
|
|
|
NM_006904.7(PRKDC):c.12321G>C (p.Leu4107=)
|
|
|
NM_006904.7(PRKDC):c.1251T>C (p.Val417=)
|
|
|
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.12C>T (p.Ser4=)
|
|
|
NM_006904.7(PRKDC):c.1302T>C (p.Val434=)
|
|
|
NM_006904.7(PRKDC):c.1332C>T (p.Asp444=)
|
|
|
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.1448-17T>C
|
|
|
NM_006904.7(PRKDC):c.1448-5_1448-4del
|
|
|
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.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.155-14A>G
|
|
|
NM_006904.7(PRKDC):c.1590C>T (p.Leu530=)
|
rs753715592
|
|
NM_006904.7(PRKDC):c.1623+11C>T
|
|
|
NM_006904.7(PRKDC):c.1623+20G>A
|
|
|
NM_006904.7(PRKDC):c.1624-13T>C
|
|
|
NM_006904.7(PRKDC):c.1624-7_1624-4del
|
|
|
NM_006904.7(PRKDC):c.1777-19G>C
|
rs2154503561
|
|
NM_006904.7(PRKDC):c.1777-8T>C
|
|
|
NM_006904.7(PRKDC):c.1827G>A (p.Ala609=)
|
rs538352579
|
|
NM_006904.7(PRKDC):c.1863G>A (p.Ser621=)
|
|
|
NM_006904.7(PRKDC):c.1866T>C (p.Ala622=)
|
|
|
NM_006904.7(PRKDC):c.1876C>T (p.Leu626=)
|
|
|
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.18C>A (p.Ala6=)
|
|
|
NM_006904.7(PRKDC):c.1950A>G (p.Ser650=)
|
|
|
NM_006904.7(PRKDC):c.1968A>G (p.Gln656=)
|
rs375910031
|
|
NM_006904.7(PRKDC):c.2022A>G (p.Val674=)
|
|
|
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.2094A>G (p.Pro698=)
|
|
|
NM_006904.7(PRKDC):c.2118A>G (p.Leu706=)
|
|
|
NM_006904.7(PRKDC):c.2140-16C>G
|
|
|
NM_006904.7(PRKDC):c.2160G>A (p.Gln720=)
|
|
|
NM_006904.7(PRKDC):c.2199T>A (p.Leu733=)
|
|
|
NM_006904.7(PRKDC):c.21T>G (p.Gly7=)
|
|
|
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.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.231+10C>T
|
|
|
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.2367C>T (p.Tyr789=)
|
rs2090170044
|
|
NM_006904.7(PRKDC):c.2419+15A>C
|
|
|
NM_006904.7(PRKDC):c.2420-16C>T
|
|
|
NM_006904.7(PRKDC):c.2466C>T (p.Ala822=)
|
rs1288218976
|
|
NM_006904.7(PRKDC):c.24G>A (p.Val8=)
|
|
|
NM_006904.7(PRKDC):c.2502G>A (p.Leu834=)
|
rs1417274751
|
|
NM_006904.7(PRKDC):c.2526+8G>A
|
rs2154503004
|
|
NM_006904.7(PRKDC):c.2527-20A>G
|
rs2154502883
|
|
NM_006904.7(PRKDC):c.2584C>T (p.Leu862=)
|
rs1477652103
|
|
NM_006904.7(PRKDC):c.2595A>G (p.Gln865=)
|
|
|
NM_006904.7(PRKDC):c.2618-20dup
|
|
|
NM_006904.7(PRKDC):c.2619C>T (p.Val873=)
|
|
|
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.2694T>C (p.Phe898=)
|
rs768585182
|
|
NM_006904.7(PRKDC):c.2724T>C (p.Asp908=)
|
|
|
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.2838G>A (p.Thr946=)
|
rs1200358191
|
|
NM_006904.7(PRKDC):c.2838G>C (p.Thr946=)
|
rs1200358191
|
|
NM_006904.7(PRKDC):c.2919G>A (p.Ala973=)
|
rs372912665
|
|
NM_006904.7(PRKDC):c.2943G>A (p.Arg981=)
|
|
|
NM_006904.7(PRKDC):c.2949G>A (p.Leu983=)
|
|
|
NM_006904.7(PRKDC):c.2958A>G (p.Pro986=)
|
rs368018782
|
|
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.3043-18C>T
|
|
|
NM_006904.7(PRKDC):c.3057C>T (p.Asp1019=)
|
rs2089712189
|
|
NM_006904.7(PRKDC):c.3075A>G (p.Leu1025=)
|
|
|
NM_006904.7(PRKDC):c.3105A>G (p.Glu1035=)
|
rs2154502365
|
|
NM_006904.7(PRKDC):c.3195C>T (p.Ser1065=)
|
|
|
NM_006904.7(PRKDC):c.3237A>T (p.Ser1079=)
|
rs147895173
|
|
NM_006904.7(PRKDC):c.324+12A>G
|
|
|
NM_006904.7(PRKDC):c.3249T>C (p.Asn1083=)
|
|
|
NM_006904.7(PRKDC):c.325-9A>T
|
rs376140051
|
|
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.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.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.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.3450A>G (p.Lys1150=)
|
rs1051973163
|
|
NM_006904.7(PRKDC):c.3464+12T>C
|
|
|
NM_006904.7(PRKDC):c.3464+18C>G
|
|
|
NM_006904.7(PRKDC):c.3465-18T>C
|
|
|
NM_006904.7(PRKDC):c.3495A>G (p.Leu1165=)
|
|
|
NM_006904.7(PRKDC):c.3507C>G (p.Val1169=)
|
rs1318510872
|
|
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.354T>C (p.Asp118=)
|
|
|
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.3599-17T>G
|
rs2154501981
|
|
NM_006904.7(PRKDC):c.3599-8T>C
|
rs1230766744
|
|
NM_006904.7(PRKDC):c.3615T>C (p.Asn1205=)
|
|
|
NM_006904.7(PRKDC):c.3622C>T (p.Leu1208=)
|
rs1589771763
|
|
NM_006904.7(PRKDC):c.3633T>A (p.Val1211=)
|
|
|
NM_006904.7(PRKDC):c.3678G>C (p.Gly1226=)
|
|
|
NM_006904.7(PRKDC):c.3724T>C (p.Leu1242=)
|
|
|
NM_006904.7(PRKDC):c.3777G>A (p.Leu1259=)
|
rs2154501965
|
|
NM_006904.7(PRKDC):c.3789G>A (p.Ala1263=)
|
|
|
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.3894A>G (p.Leu1298=)
|
rs2154501852
|
|
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.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+7A>T
|
|
|
NM_006904.7(PRKDC):c.3993C>T (p.Asn1331=)
|
|
|
NM_006904.7(PRKDC):c.4011T>C (p.Val1337=)
|
|
|
NM_006904.7(PRKDC):c.4038G>A (p.Thr1346=)
|
|
|
NM_006904.7(PRKDC):c.4053C>G (p.Thr1351=)
|
|
|
NM_006904.7(PRKDC):c.4053C>T (p.Thr1351=)
|
rs2089432195
|
|
NM_006904.7(PRKDC):c.4071+17A>C
|
|
|
NM_006904.7(PRKDC):c.4072-14_4072-11del
|
|
|
NM_006904.7(PRKDC):c.4072-7G>C
|
rs1402270832
|
|
NM_006904.7(PRKDC):c.4074C>A (p.Leu1358=)
|
rs755044476
|
|
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.4143C>T (p.Ser1381=)
|
rs2154501801
|
|
NM_006904.7(PRKDC):c.4158C>T (p.Ile1386=)
|
|
|
NM_006904.7(PRKDC):c.4227C>T (p.Ser1409=)
|
|
|
NM_006904.7(PRKDC):c.4230A>G (p.Pro1410=)
|
rs2154501797
|
|
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.429C>A (p.Leu143=)
|
|
|
NM_006904.7(PRKDC):c.4308G>A (p.Leu1436=)
|
rs781650863
|
|
NM_006904.7(PRKDC):c.4350T>C (p.Ala1450=)
|
rs2154501770
|
|
NM_006904.7(PRKDC):c.4371G>A (p.Gln1457=)
|
rs761154232
|
|
NM_006904.7(PRKDC):c.4413+14A>G
|
|
|
NM_006904.7(PRKDC):c.4413+7_4413+12del
|
rs2154501769
|
|
NM_006904.7(PRKDC):c.4431T>C (p.His1477=)
|
|
|
NM_006904.7(PRKDC):c.4536C>T (p.Ser1512=)
|
|
|
NM_006904.7(PRKDC):c.4572+11C>T
|
|
|
NM_006904.7(PRKDC):c.4572+19C>T
|
rs2089363647
|
|
NM_006904.7(PRKDC):c.4573-12T>C
|
|
|
NM_006904.7(PRKDC):c.4573-14T>G
|
|
|
NM_006904.7(PRKDC):c.4573-16_4573-14del
|
rs777387184
|
|
NM_006904.7(PRKDC):c.4573-8T>C
|
|
|
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.4623G>A (p.Ala1541=)
|
|
|
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.4665T>C (p.His1555=)
|
|
|
NM_006904.7(PRKDC):c.4689C>T (p.Phe1563=)
|
|
|
NM_006904.7(PRKDC):c.4714T>C (p.Leu1572=)
|
|
|
NM_006904.7(PRKDC):c.4770C>G (p.Thr1590=)
|
|
|
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.4881G>A (p.Lys1627=)
|
|
|
NM_006904.7(PRKDC):c.4917C>G (p.Leu1639=)
|
|
|
NM_006904.7(PRKDC):c.4936C>T (p.Leu1646=)
|
rs1554638426
|
|
NM_006904.7(PRKDC):c.4963-11C>T
|
|
|
NM_006904.7(PRKDC):c.4998T>C (p.Gly1666=)
|
rs2154501497
|
|
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.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.509-20G>C
|
|
|
NM_006904.7(PRKDC):c.509-4T>G
|
rs200774352
|
|
NM_006904.7(PRKDC):c.5151C>T (p.Leu1717=)
|
|
|
NM_006904.7(PRKDC):c.5154C>T (p.Ile1718=)
|
|
|
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.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.5248T>C (p.Leu1750=)
|
rs1262345485
|
|
NM_006904.7(PRKDC):c.5319C>A (p.Val1773=)
|
rs2154501314
|
|
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.5363+15C>T
|
|
|
NM_006904.7(PRKDC):c.5363+18G>T
|
|
|
NM_006904.7(PRKDC):c.5363+8A>G
|
rs1457497303
|
|
NM_006904.7(PRKDC):c.5364-10G>A
|
|
|
NM_006904.7(PRKDC):c.5400C>T (p.Ser1800=)
|
rs776197997
|
|
NM_006904.7(PRKDC):c.5430C>T (p.Pro1810=)
|
|
|
NM_006904.7(PRKDC):c.5466C>T (p.Arg1822=)
|
rs1418857770
|
|
NM_006904.7(PRKDC):c.5481G>A (p.Leu1827=)
|
|
|
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.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.5625G>A (p.Lys1875=)
|
rs2154500756
|
|
NM_006904.7(PRKDC):c.5709G>T (p.Ser1903=)
|
|
|
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.5751-10CT[2]
|
rs1417067270
|
|
NM_006904.7(PRKDC):c.5751-12A>T
|
|
|
NM_006904.7(PRKDC):c.5751-9T>C
|
rs746989800
|
|
NM_006904.7(PRKDC):c.5800C>T (p.Leu1934=)
|
rs2154500710
|
|
NM_006904.7(PRKDC):c.5844C>T (p.Ala1948=)
|
|
|
NM_006904.7(PRKDC):c.5868C>T (p.Phe1956=)
|
rs1589750389
|
|
NM_006904.7(PRKDC):c.5874G>A (p.Glu1958=)
|
|
|
NM_006904.7(PRKDC):c.5901T>C (p.Phe1967=)
|
|
|
NM_006904.7(PRKDC):c.5919+13T>G
|
rs373147663
|
|
NM_006904.7(PRKDC):c.5920-10G>A
|
rs2154500699
|
|
NM_006904.7(PRKDC):c.5920-11T>G
|
|
|
NM_006904.7(PRKDC):c.5920-14C>T
|
|
|
NM_006904.7(PRKDC):c.5920-16T>C
|
|
|
NM_006904.7(PRKDC):c.5955G>A (p.Lys1985=)
|
|
|
NM_006904.7(PRKDC):c.5961C>G (p.Arg1987=)
|
|
|
NM_006904.7(PRKDC):c.5967T>C (p.Asn1989=)
|
rs1589750131
|
|
NM_006904.7(PRKDC):c.5986-16T>C
|
rs976983168
|
|
NM_006904.7(PRKDC):c.5986-20T>G
|
|
|
NM_006904.7(PRKDC):c.5991T>C (p.Pro1997=)
|
|
|
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.6048T>C (p.Asn2016=)
|
|
|
NM_006904.7(PRKDC):c.6058+17_6058+20del
|
|
|
NM_006904.7(PRKDC):c.6072T>C (p.Tyr2024=)
|
rs544553927
|
|
NM_006904.7(PRKDC):c.6081C>T (p.Ser2027=)
|
|
|
NM_006904.7(PRKDC):c.6123T>C (p.Ser2041=)
|
rs2088629905
|
|
NM_006904.7(PRKDC):c.6159A>G (p.Ser2053=)
|
|
|
NM_006904.7(PRKDC):c.6177T>C (p.Pro2059=)
|
rs1176400844
|
|
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.6207+13C>G
|
|
|
NM_006904.7(PRKDC):c.6207+17T>A
|
|
|
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.6225G>T (p.Thr2075=)
|
|
|
NM_006904.7(PRKDC):c.6228G>A (p.Val2076=)
|
rs2154500563
|
|
NM_006904.7(PRKDC):c.6241C>T (p.Leu2081=)
|
|
|
NM_006904.7(PRKDC):c.6249G>A (p.Leu2083=)
|
rs2088611101
|
|
NM_006904.7(PRKDC):c.6258C>T (p.Asp2086=)
|
|
|
NM_006904.7(PRKDC):c.6285G>A (p.Ala2095=)
|
|
|
NM_006904.7(PRKDC):c.6285G>T (p.Ala2095=)
|
|
|
NM_006904.7(PRKDC):c.6303C>G (p.Val2101=)
|
rs769866046
|
|
NM_006904.7(PRKDC):c.6330G>A (p.Pro2110=)
|
rs748977028
|
|
NM_006904.7(PRKDC):c.6339A>C (p.Gly2113=)
|
|
|
NM_006904.7(PRKDC):c.6345+10C>T
|
rs1215010878
|
|
NM_006904.7(PRKDC):c.6346-14A>G
|
rs923676886
|
|
NM_006904.7(PRKDC):c.6346-7A>G
|
|
|
NM_006904.7(PRKDC):c.6357A>G (p.Pro2119=)
|
|
|
NM_006904.7(PRKDC):c.63T>C (p.Ala21=)
|
|
|
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.6505C>T (p.Leu2169=)
|
|
|
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.6642A>G (p.Arg2214=)
|
|
|
NM_006904.7(PRKDC):c.6678A>C (p.Pro2226=)
|
|
|
NM_006904.7(PRKDC):c.6696A>G (p.Arg2232=)
|
|
|
NM_006904.7(PRKDC):c.6699C>T (p.His2233=)
|
|
|
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.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.6924C>T (p.Ser2308=)
|
rs1051114079
|
|
NM_006904.7(PRKDC):c.7006-16A>C
|
rs1311497378
|
|
NM_006904.7(PRKDC):c.7021C>T (p.Leu2341=)
|
rs2088354143
|
|
NM_006904.7(PRKDC):c.7032G>C (p.Leu2344=)
|
|
|
NM_006904.7(PRKDC):c.7044A>G (p.Gln2348=)
|
|
|
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.7101G>T (p.Val2367=)
|
|
|
NM_006904.7(PRKDC):c.7113C>T (p.Phe2371=)
|
|
|
NM_006904.7(PRKDC):c.7116T>C (p.Pro2372=)
|
|
|
NM_006904.7(PRKDC):c.7130+14A>G
|
|
|
NM_006904.7(PRKDC):c.7130+16G>A
|
rs2154500202
|
|
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.7176G>A (p.Val2392=)
|
|
|
NM_006904.7(PRKDC):c.721+17C>G
|
|
|
NM_006904.7(PRKDC):c.722-10A>G
|
|
|
NM_006904.7(PRKDC):c.7245A>G (p.Leu2415=)
|
rs2154500189
|
|
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.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.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.7454+19A>G
|
|
|
NM_006904.7(PRKDC):c.7455-11_7455-10del
|
rs547740174
|
|
NM_006904.7(PRKDC):c.7455-14G>T
|
rs757106013
|
|
NM_006904.7(PRKDC):c.7518G>C (p.Leu2506=)
|
rs990430158
|
|
NM_006904.7(PRKDC):c.7553+13C>T
|
|
|
NM_006904.7(PRKDC):c.7554-9G>A
|
rs1427010681
|
|
NM_006904.7(PRKDC):c.7617G>A (p.Leu2539=)
|
|
|
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.7716T>C (p.Tyr2572=)
|
|
|
NM_006904.7(PRKDC):c.7761+10T>C
|
rs1481895843
|
|
NM_006904.7(PRKDC):c.7761+13TC[3]
|
|
|
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.7762-18A>G
|
rs2154499722
|
|
NM_006904.7(PRKDC):c.7762-28_7762-12del
|
|
|
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.7869G>A (p.Gly2623=)
|
rs2154499713
|
|
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.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.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.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.8049G>A (p.Lys2683=)
|
rs2087956090
|
|
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.810T>C (p.Ala270=)
|
|
|
NM_006904.7(PRKDC):c.8130C>T (p.Asp2710=)
|
rs370260992
|
|
NM_006904.7(PRKDC):c.8148G>A (p.Val2716=)
|
rs1257751105
|
|
NM_006904.7(PRKDC):c.8153-10C>G
|
rs1309929519
|
|
NM_006904.7(PRKDC):c.8153-8C>T
|
rs780102495
|
|
NM_006904.7(PRKDC):c.8157G>A (p.Ala2719=)
|
|
|
NM_006904.7(PRKDC):c.8160C>T (p.Ala2720=)
|
|
|
NM_006904.7(PRKDC):c.8169G>A (p.Thr2723=)
|
rs2154499479
|
|
NM_006904.7(PRKDC):c.8259A>G (p.Arg2753=)
|
rs2087884319
|
|
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.8325C>T (p.Tyr2775=)
|
rs2154499402
|
|
NM_006904.7(PRKDC):c.8328G>T (p.Arg2776=)
|
rs2154499401
|
|
NM_006904.7(PRKDC):c.8373C>T (p.Ile2791=)
|
|
|
NM_006904.7(PRKDC):c.8376C>T (p.Thr2792=)
|
|
|
NM_006904.7(PRKDC):c.837A>G (p.Ala279=)
|
rs2090476977
|
|
NM_006904.7(PRKDC):c.8388C>G (p.Ala2796=)
|
|
|
NM_006904.7(PRKDC):c.8397+18C>T
|
|
|
NM_006904.7(PRKDC):c.8398-10T>C
|
|
|
NM_006904.7(PRKDC):c.8421G>A (p.Gln2807=)
|
|
|
NM_006904.7(PRKDC):c.8427T>C (p.Phe2809=)
|
|
|
NM_006904.7(PRKDC):c.8466A>G (p.Lys2822=)
|
|
|
NM_006904.7(PRKDC):c.8514A>G (p.Gln2838=)
|
|
|
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.8625T>C (p.Ala2875=)
|
|
|
NM_006904.7(PRKDC):c.8631C>T (p.Ser2877=)
|
|
|
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.8664G>A (p.Val2888=)
|
|
|
NM_006904.7(PRKDC):c.870C>T (p.Tyr290=)
|
|
|
NM_006904.7(PRKDC):c.8784-19T>A
|
|
|
NM_006904.7(PRKDC):c.8823G>A (p.Gly2941=)
|
|
|
NM_006904.7(PRKDC):c.888C>T (p.Val296=)
|
|
|
NM_006904.7(PRKDC):c.8910G>A (p.Lys2970=)
|
|
|
NM_006904.7(PRKDC):c.8922+10A>G
|
|
|
NM_006904.7(PRKDC):c.8923-18T>A
|
rs996319313
|
|
NM_006904.7(PRKDC):c.8961A>G (p.Thr2987=)
|
|
|
NM_006904.7(PRKDC):c.9078C>T (p.Asp3026=)
|
|
|
NM_006904.7(PRKDC):c.909C>T (p.His303=)
|
|
|
NM_006904.7(PRKDC):c.90C>T (p.Ala30=)
|
|
|
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.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.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.9243T>C (p.His3081=)
|
rs757686230
|
|
NM_006904.7(PRKDC):c.9336+14_9336+15insA
|
rs1397538360
|
|
NM_006904.7(PRKDC):c.9336+15del
|
|
|
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.9345T>C (p.Ser3115=)
|
rs764031635
|
|
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.9438C>T (p.Ser3146=)
|
|
|
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+19C>T
|
|
|
NM_006904.7(PRKDC):c.9445+9T>C
|
|
|
NM_006904.7(PRKDC):c.9543C>T (p.Asp3181=)
|
rs1330672556
|
|
NM_006904.7(PRKDC):c.9557+18dup
|
|
|
NM_006904.7(PRKDC):c.9570C>G (p.Leu3190=)
|
|
|
NM_006904.7(PRKDC):c.966+20C>G
|
rs781539322
|
|
NM_006904.7(PRKDC):c.9693C>A (p.Ile3231=)
|
rs759916434
|
|
NM_006904.7(PRKDC):c.9705G>A (p.Lys3235=)
|
|
|
NM_006904.7(PRKDC):c.9711C>T (p.Ser3237=)
|
|
|
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.9777G>A (p.Leu3259=)
|
|
|
NM_006904.7(PRKDC):c.9783G>A (p.Glu3261=)
|
rs772972161
|
|
NM_006904.7(PRKDC):c.9786G>A (p.Leu3262=)
|
|
|
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.9870C>A (p.Ser3290=)
|
rs759540759
|
|
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.9923-18_9923-12del
|
|
|
NM_006904.7(PRKDC):c.9923-19T>G
|
|
|
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.9936G>A (p.Val3312=)
|
|
|
NM_006904.7(PRKDC):c.9963G>A (p.Leu3321=)
|
rs1283705549
|
|
NM_006904.7(PRKDC):c.9966T>G (p.Ala3322=)
|
rs1589705432
|
|
NM_024782.3(NHEJ1):c.123T>G (p.Leu41=)
|
|
|
NM_024782.3(NHEJ1):c.150C>T (p.Asp50=)
|
|
|
NM_024782.3(NHEJ1):c.15G>A (p.Glu5=)
|
|
|
NM_024782.3(NHEJ1):c.177+15A>C
|
|
|
NM_024782.3(NHEJ1):c.178-11T>C
|
rs1335578048
|
|
NM_024782.3(NHEJ1):c.178-6C>G
|
|
|
NM_024782.3(NHEJ1):c.219C>A (p.Leu73=)
|
|
|
NM_024782.3(NHEJ1):c.219C>G (p.Leu73=)
|
rs144535601
|
|
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.369C>T (p.Cys123=)
|
|
|
NM_024782.3(NHEJ1):c.381T>C (p.Ser127=)
|
|
|
NM_024782.3(NHEJ1):c.390+9A>G
|
|
|
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.513G>C (p.Gly171=)
|
rs759426248
|
|
NM_024782.3(NHEJ1):c.513G>T (p.Gly171=)
|
rs759426248
|
|
NM_024782.3(NHEJ1):c.529+11A>G
|
rs2106362226
|
|
NM_024782.3(NHEJ1):c.529+18G>C
|
|
|
NM_024782.3(NHEJ1):c.558A>G (p.Glu186=)
|
|
|
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.589-6T>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.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.642G>A (p.Leu214=)
|
rs774224764
|
|
NM_024782.3(NHEJ1):c.642G>T (p.Leu214=)
|
rs774224764
|
|
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+19C>T
|
|
|
NM_024782.3(NHEJ1):c.707-8G>A
|
rs1574697770
|
|
NM_024782.3(NHEJ1):c.753C>T (p.Ser251=)
|
|
|
NM_024782.3(NHEJ1):c.762A>G (p.Val254=)
|
rs2106319497
|
|
NM_024782.3(NHEJ1):c.825+20del
|
|
|
NM_024782.3(NHEJ1):c.834A>C (p.Ser278=)
|
|
|
NM_024782.3(NHEJ1):c.9A>G (p.Glu3=)
|
rs1392400000
|
|
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.1032A>G (p.Gln344=)
|
|
|
NM_206937.2(LIG4):c.1059A>G (p.Arg353=)
|
|
|
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.1107A>T (p.Val369=)
|
|
|
NM_206937.2(LIG4):c.1108T>C (p.Leu370=)
|
|
|
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.1146G>A (p.Leu382=)
|
rs1878467886
|
|
NM_206937.2(LIG4):c.1153A>C (p.Arg385=)
|
|
|
NM_206937.2(LIG4):c.1191A>G (p.Pro397=)
|
|
|
NM_206937.2(LIG4):c.1209G>T (p.Val403=)
|
|
|
NM_206937.2(LIG4):c.1215A>G (p.Lys405=)
|
|
|
NM_206937.2(LIG4):c.1218A>G (p.Thr406=)
|
|
|
NM_206937.2(LIG4):c.1224T>C (p.Ala408=)
|
|
|
NM_206937.2(LIG4):c.1245T>A (p.Ile415=)
|
|
|
NM_206937.2(LIG4):c.1245T>C (p.Ile415=)
|
|
|
NM_206937.2(LIG4):c.1260A>G (p.Glu420=)
|
|
|
NM_206937.2(LIG4):c.1263A>G (p.Ala421=)
|
rs1594460576
|
|
NM_206937.2(LIG4):c.1269T>C (p.Asp423=)
|
|
|
NM_206937.2(LIG4):c.1303C>T (p.Leu435=)
|
|
|
NM_206937.2(LIG4):c.1305A>G (p.Leu435=)
|
|
|
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.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.1384T>C (p.Leu462=)
|
|
|
NM_206937.2(LIG4):c.1392T>A (p.Ile464=)
|
|
|
NM_206937.2(LIG4):c.1422A>G (p.Gly474=)
|
|
|
NM_206937.2(LIG4):c.1458A>C (p.Ala486=)
|
|
|
NM_206937.2(LIG4):c.1479T>G (p.Pro493=)
|
rs2138973409
|
|
NM_206937.2(LIG4):c.1482T>C (p.Gly494=)
|
|
|
NM_206937.2(LIG4):c.1491A>C (p.Pro497=)
|
|
|
NM_206937.2(LIG4):c.1503T>C (p.His501=)
|
|
|
NM_206937.2(LIG4):c.150T>C (p.His50=)
|
|
|
NM_206937.2(LIG4):c.1545G>A (p.Leu515=)
|
rs2138972922
|
|
NM_206937.2(LIG4):c.1545G>C (p.Leu515=)
|
|
|
NM_206937.2(LIG4):c.1569C>G (p.Ala523=)
|
|
|
NM_206937.2(LIG4):c.1575T>C (p.Tyr525=)
|
|
|
NM_206937.2(LIG4):c.1589A>G (p.His530Arg)
|
|
|
NM_206937.2(LIG4):c.1605A>G (p.Pro535=)
|
|
|
NM_206937.2(LIG4):c.1611C>T (p.Ser537=)
|
|
|
NM_206937.2(LIG4):c.1623A>G (p.Gly541=)
|
|
|
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.174A>G (p.Lys58=)
|
rs1192620115
|
|
NM_206937.2(LIG4):c.1755A>G (p.Arg585=)
|
|
|
NM_206937.2(LIG4):c.1767G>A (p.Glu589=)
|
|
|
NM_206937.2(LIG4):c.1797A>G (p.Leu599=)
|
|
|
NM_206937.2(LIG4):c.1800A>G (p.Glu600=)
|
|
|
NM_206937.2(LIG4):c.1809G>A (p.Arg603=)
|
|
|
NM_206937.2(LIG4):c.1836T>C (p.Ser612=)
|
|
|
NM_206937.2(LIG4):c.1842C>T (p.His614=)
|
|
|
NM_206937.2(LIG4):c.1857T>G (p.Gly619=)
|
|
|
NM_206937.2(LIG4):c.1869A>G (p.Pro623=)
|
|
|
NM_206937.2(LIG4):c.1893C>T (p.Ala631=)
|
rs267603748
|
|
NM_206937.2(LIG4):c.189T>C (p.Ser63=)
|
|
|
NM_206937.2(LIG4):c.1911T>C (p.Val637=)
|
|
|
NM_206937.2(LIG4):c.1920T>C (p.Ile640=)
|
|
|
NM_206937.2(LIG4):c.195T>C (p.Tyr65=)
|
|
|
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.2040C>T (p.Asn680=)
|
|
|
NM_206937.2(LIG4):c.2049A>C (p.Ala683=)
|
|
|
NM_206937.2(LIG4):c.2067A>T (p.Ile689=)
|
|
|
NM_206937.2(LIG4):c.2091G>A (p.Thr697=)
|
|
|
NM_206937.2(LIG4):c.2118C>T (p.Asn706=)
|
|
|
NM_206937.2(LIG4):c.2157T>C (p.Asp719=)
|
rs2138968929
|
|
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.2250C>G (p.Thr750=)
|
|
|
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.2316C>T (p.Asn772=)
|
rs957413601
|
|
NM_206937.2(LIG4):c.2319A>G (p.Gln773=)
|
rs1594454898
|
|
NM_206937.2(LIG4):c.2320C>T (p.Leu774=)
|
|
|
NM_206937.2(LIG4):c.2334C>T (p.Phe778=)
|
|
|
NM_206937.2(LIG4):c.237A>G (p.Arg79=)
|
|
|
NM_206937.2(LIG4):c.2388T>C (p.Ile796=)
|
|
|
NM_206937.2(LIG4):c.2409T>C (p.Tyr803=)
|
|
|
NM_206937.2(LIG4):c.2412C>T (p.Ser804=)
|
|
|
NM_206937.2(LIG4):c.2427T>A (p.Pro809=)
|
|
|
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.2466G>A (p.Ser822=)
|
rs752539259
|
|
NM_206937.2(LIG4):c.2466G>T (p.Ser822=)
|
|
|
NM_206937.2(LIG4):c.246T>C (p.Tyr82=)
|
|
|
NM_206937.2(LIG4):c.2485C>T (p.Leu829=)
|
|
|
NM_206937.2(LIG4):c.24A>G (p.Gln8=)
|
|
|
NM_206937.2(LIG4):c.2505G>A (p.Gly835=)
|
|
|
NM_206937.2(LIG4):c.2517T>C (p.Ala839=)
|
|
|
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.2556A>G (p.Val852=)
|
|
|
NM_206937.2(LIG4):c.2580G>A (p.Val860=)
|
|
|
NM_206937.2(LIG4):c.2595T>A (p.Ile865=)
|
|
|
NM_206937.2(LIG4):c.2610T>C (p.Ser870=)
|
|
|
NM_206937.2(LIG4):c.261T>C (p.Thr87=)
|
|
|
NM_206937.2(LIG4):c.2667A>C (p.Leu889=)
|
|
|
NM_206937.2(LIG4):c.2667A>G (p.Leu889=)
|
|
|
NM_206937.2(LIG4):c.2676T>C (p.Ser892=)
|
|
|
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.286T>C (p.Leu96=)
|
|
|
NM_206937.2(LIG4):c.288G>A (p.Leu96=)
|
|
|
NM_206937.2(LIG4):c.321C>G (p.Leu107=)
|
|
|
NM_206937.2(LIG4):c.33A>G (p.Ala11=)
|
rs748718655
|
|
NM_206937.2(LIG4):c.360A>G (p.Gly120=)
|
|
|
NM_206937.2(LIG4):c.387A>C (p.Ala129=)
|
|
|
NM_206937.2(LIG4):c.399G>A (p.Leu133=)
|
|
|
NM_206937.2(LIG4):c.438G>A (p.Gln146=)
|
|
|
NM_206937.2(LIG4):c.450C>T (p.Asp150=)
|
rs2138979718
|
|
NM_206937.2(LIG4):c.459C>T (p.Asp153=)
|
|
|
NM_206937.2(LIG4):c.480T>A (p.Ser160=)
|
|
|
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.510C>T (p.Ser170=)
|
|
|
NM_206937.2(LIG4):c.519A>G (p.Gln173=)
|
|
|
NM_206937.2(LIG4):c.580T>C (p.Leu194=)
|
|
|
NM_206937.2(LIG4):c.585G>A (p.Lys195=)
|
|
|
NM_206937.2(LIG4):c.612T>C (p.Phe204=)
|
|
|
NM_206937.2(LIG4):c.615T>C (p.Ser205=)
|
|
|
NM_206937.2(LIG4):c.654T>A (p.Thr218=)
|
|
|
NM_206937.2(LIG4):c.663G>A (p.Leu221=)
|
|
|
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.684G>A (p.Leu228=)
|
|
|
NM_206937.2(LIG4):c.708T>C (p.Ser236=)
|
|
|
NM_206937.2(LIG4):c.711T>C (p.Asp237=)
|
|
|
NM_206937.2(LIG4):c.717T>C (p.Ser239=)
|
|
|
NM_206937.2(LIG4):c.720C>T (p.Ile240=)
|
rs1418033761
|
|
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.748C>T (p.Leu250=)
|
|
|
NM_206937.2(LIG4):c.753T>G (p.Ala251=)
|
rs2138978156
|
|
NM_206937.2(LIG4):c.771G>A (p.Glu257=)
|
|
|
NM_206937.2(LIG4):c.804C>T (p.Phe268=)
|
rs2138977802
|
|
NM_206937.2(LIG4):c.819G>A (p.Lys273=)
|
|
|
NM_206937.2(LIG4):c.840A>G (p.Gln280=)
|
|
|
NM_206937.2(LIG4):c.861A>G (p.Val287=)
|
|
|
NM_206937.2(LIG4):c.877C>A (p.Arg293=)
|
rs948441067
|
|
NM_206937.2(LIG4):c.885A>G (p.Gly295=)
|
|
|
NM_206937.2(LIG4):c.894C>T (p.Tyr298=)
|
|
|
NM_206937.2(LIG4):c.897T>G (p.Thr299=)
|
rs2138977040
|
|
NM_206937.2(LIG4):c.906T>C (p.Phe302=)
|
|
|
NM_206937.2(LIG4):c.936C>T (p.Thr312=)
|
|
|
NM_206937.2(LIG4):c.939A>G (p.Pro313=)
|
|
|
NM_206937.2(LIG4):c.93A>G (p.Gly31=)
|
|
|