NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr)
|
rs7830743
|
0.13382
|
NM_006904.7(PRKDC):c.11107+250G>C
|
rs8178238
|
0.03412
|
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile)
|
rs8178017
|
0.03099
|
NM_006904.7(PRKDC):c.3759G>A (p.Thr1253=)
|
rs8178087
|
0.02475
|
NM_006904.7(PRKDC):c.5235+210A>G
|
rs8178114
|
0.02390
|
NM_006904.7(PRKDC):c.4071+245C>T
|
rs72647910
|
0.02330
|
NM_006904.7(PRKDC):c.2260-187G>A
|
rs3829985
|
0.02231
|
NM_006904.7(PRKDC):c.11489+202T>G
|
rs4873672
|
0.01828
|
NM_006904.7(PRKDC):c.6346-105A>G
|
rs8178148
|
0.01827
|
NM_006904.7(PRKDC):c.4280+21C>T
|
rs45625437
|
0.01642
|
NM_006904.7(PRKDC):c.10297+304A>T
|
rs180912464
|
0.01531
|
NM_006904.7(PRKDC):c.11176-288A>G
|
rs144272057
|
0.01516
|
NM_006904.7(PRKDC):c.11176-22G>T
|
rs8178242
|
0.01499
|
NM_006904.7(PRKDC):c.4776+144C>T
|
rs8178105
|
0.01481
|
NM_006904.7(PRKDC):c.400-146C>T
|
rs16932317
|
0.01436
|
NM_006904.7(PRKDC):c.3270-110A>G
|
rs16931852
|
0.01408
|
NM_006904.7(PRKDC):c.6465+49G>T
|
rs7463428
|
0.01405
|
NM_006904.7(PRKDC):c.6059-82T>C
|
rs8178140
|
0.01392
|
NM_006904.7(PRKDC):c.4414-299G>A
|
rs147304214
|
0.01335
|
NM_006904.7(PRKDC):c.10211G>A (p.Gly3404Glu)
|
rs8178225
|
0.01254
|
NM_006904.7(PRKDC):c.9112-68G>A
|
rs146933089
|
0.01125
|
NM_006904.7(PRKDC):c.11490-252G>A
|
rs41390145
|
0.01093
|
NM_006904.7(PRKDC):c.778-31A>G
|
rs45548835
|
0.01093
|
NM_006904.7(PRKDC):c.2935-54C>T
|
rs56110471
|
0.01091
|
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser)
|
rs8178228
|
0.01084
|
NM_006904.7(PRKDC):c.1777-579A>G
|
rs140789033
|
0.01082
|
NM_006904.7(PRKDC):c.2618-303A>G
|
rs149224447
|
0.00965
|
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser)
|
rs8178216
|
0.00825
|
NM_006904.7(PRKDC):c.11854-123G>A
|
rs8178252
|
0.00686
|
NM_006904.7(PRKDC):c.9145C>T (p.Leu3049=)
|
rs56053523
|
0.00669
|
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=)
|
rs8178249
|
0.00590
|
NM_006904.7(PRKDC):c.10626C>T (p.Phe3542=)
|
rs8178231
|
0.00579
|
NM_006904.7(PRKDC):c.1892+42del
|
rs8178035
|
0.00536
|
NM_006904.7(PRKDC):c.9557+200A>G
|
rs8178212
|
0.00529
|
NM_006904.7(PRKDC):c.4413+98C>T
|
rs144908648
|
0.00527
|
NM_006904.7(PRKDC):c.6465+102A>G
|
rs8178151
|
0.00523
|
NM_006904.7(PRKDC):c.3042+18C>A
|
rs56169650
|
0.00521
|
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met)
|
rs8178232
|
0.00453
|
NM_006904.7(PRKDC):c.6058+28G>A
|
rs8178131
|
0.00417
|
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=)
|
rs45438803
|
0.00412
|
NM_006904.7(PRKDC):c.6480C>T (p.Tyr2160=)
|
rs55991828
|
0.00408
|
NM_006904.7(PRKDC):c.1893-12T>G
|
rs56188476
|
0.00386
|
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)
|
rs8178208
|
0.00320
|
NM_006904.7(PRKDC):c.9557+8G>A
|
rs8178209
|
0.00313
|
NM_006904.7(PRKDC):c.9217C>T (p.Leu3073Phe)
|
rs55644332
|
0.00292
|
NM_006904.7(PRKDC):c.10759-11T>C
|
rs373043773
|
0.00266
|
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_006904.7(PRKDC):c.1338C>A (p.Phe446Leu)
|
rs61729514
|
0.00198
|
NM_006904.7(PRKDC):c.12138C>T (p.Tyr4046=)
|
rs56123237
|
0.00196
|
NM_006904.7(PRKDC):c.7405T>C (p.Cys2469Arg)
|
rs147514951
|
0.00165
|
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=)
|
rs56047668
|
0.00160
|
NM_006904.7(PRKDC):c.9557+4A>C
|
rs140578467
|
0.00151
|
NM_006904.7(PRKDC):c.11106C>T (p.Pro3702=)
|
rs8178236
|
0.00131
|
NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser)
|
rs55835956
|
0.00124
|
NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=)
|
rs114463099
|
0.00106
|
NM_006904.7(PRKDC):c.3222G>A (p.Lys1074=)
|
rs183986754
|
0.00105
|
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)
|
rs199731143
|
0.00104
|
NM_006904.7(PRKDC):c.1539A>G (p.Glu513=)
|
rs182436738
|
0.00081
|
NM_006904.7(PRKDC):c.1728T>G (p.Val576=)
|
rs369983299
|
0.00081
|
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=)
|
rs201592874
|
0.00080
|
NM_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_006904.7(PRKDC):c.3101G>A (p.Arg1034Gln)
|
rs200669578
|
0.00067
|
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)
|
rs191531119
|
0.00059
|
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val)
|
rs201214138
|
0.00057
|
NM_006904.7(PRKDC):c.8266-10G>A
|
rs187781588
|
0.00056
|
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=)
|
rs55789637
|
0.00053
|
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=)
|
rs200137917
|
0.00052
|
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe)
|
rs374403400
|
0.00051
|
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_006904.7(PRKDC):c.399+15A>G
|
rs370171329
|
0.00045
|
NM_006904.7(PRKDC):c.10298-12T>C
|
rs373100184
|
0.00043
|
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_006904.7(PRKDC):c.11118C>T (p.Asp3706=)
|
rs55660253
|
0.00032
|
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_006904.7(PRKDC):c.8784G>A (p.Lys2928=)
|
rs202100944
|
0.00029
|
NM_006904.7(PRKDC):c.5694A>G (p.Gln1898=)
|
rs201140159
|
0.00027
|
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_006904.7(PRKDC):c.1212C>T (p.Asp404=)
|
rs376199818
|
0.00021
|
NM_006904.7(PRKDC):c.3270-17T>C
|
rs373351543
|
0.00021
|
NM_006904.7(PRKDC):c.8784-8T>A
|
rs200659591
|
0.00021
|
NM_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_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_006904.7(PRKDC):c.10116+11A>C
|
rs371315933
|
0.00018
|
NM_006904.7(PRKDC):c.11343C>T (p.Cys3781=)
|
rs368860959
|
0.00018
|
NM_006904.7(PRKDC):c.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_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_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_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_006904.7(PRKDC):c.712A>G (p.Met238Val)
|
rs546088914
|
0.00012
|
NM_006904.7(PRKDC):c.8292G>A (p.Lys2764=)
|
rs750870740
|
0.00012
|
NM_006904.7(PRKDC):c.393T>C (p.Leu131=)
|
rs373096832
|
0.00011
|
NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=)
|
rs189680139
|
0.00011
|
NM_006904.7(PRKDC):c.5079C>G (p.Val1693=)
|
rs201654601
|
0.00011
|
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_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.6936T>C (p.Tyr2312=)
|
rs55726602
|
0.00009
|
NM_006904.7(PRKDC):c.7454+8A>G
|
rs1466355747
|
0.00009
|
NM_006904.7(PRKDC):c.7787G>A (p.Arg2596His)
|
rs201726098
|
0.00009
|
NM_006904.7(PRKDC):c.9112-19A>T
|
rs371303455
|
0.00009
|
NM_006904.7(PRKDC):c.9112-20T>G
|
rs766328462
|
0.00009
|
NM_006904.7(PRKDC):c.10533C>T (p.Ala3511=)
|
rs367827058
|
0.00008
|
NM_006904.7(PRKDC):c.11232C>T (p.Asp3744=)
|
rs369155664
|
0.00008
|
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=)
|
rs576550975
|
0.00008
|
NM_006904.7(PRKDC):c.6466-20A>G
|
rs764316285
|
0.00008
|
NM_006904.7(PRKDC):c.8229T>C (p.Tyr2743=)
|
rs562024708
|
0.00008
|
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_006904.7(PRKDC):c.10362A>G (p.Leu3454=)
|
rs376203472
|
0.00006
|
NM_006904.7(PRKDC):c.10774G>T (p.Val3592Leu)
|
rs1490966994
|
0.00006
|
NM_006904.7(PRKDC):c.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.5571+5C>T
|
rs780022870
|
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_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_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.11237G>A (p.Arg3746Lys)
|
rs765160098
|
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_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.7131-5G>A
|
rs759566902
|
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_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.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.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.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_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.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.2620A>G (p.Thr874Ala)
|
rs768430430
|
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.301G>A (p.Ala101Thr)
|
rs769242222
|
0.00001
|
NM_006904.7(PRKDC):c.3042+8A>G
|
rs757094084
|
0.00001
|
NM_006904.7(PRKDC):c.3060T>C (p.Pro1020=)
|
rs372560569
|
0.00001
|
NM_006904.7(PRKDC):c.3092G>A (p.Arg1031Gln)
|
rs773506987
|
0.00001
|
NM_006904.7(PRKDC):c.309C>T (p.Tyr103=)
|
rs1026071576
|
0.00001
|
NM_006904.7(PRKDC):c.325-17T>A
|
rs1299415327
|
0.00001
|
NM_006904.7(PRKDC):c.325-19T>A
|
rs8178003
|
0.00001
|
NM_006904.7(PRKDC):c.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.549A>G (p.Glu183=)
|
rs749590740
|
0.00001
|
NM_006904.7(PRKDC):c.5523C>T (p.Ser1841=)
|
rs368820910
|
0.00001
|
NM_006904.7(PRKDC):c.5550G>T (p.Val1850=)
|
rs774776599
|
0.00001
|
NM_006904.7(PRKDC):c.5589T>C (p.Phe1863=)
|
rs1468566913
|
0.00001
|
NM_006904.7(PRKDC):c.5750+7T>C
|
rs1231868709
|
0.00001
|
NM_006904.7(PRKDC):c.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.6215G>A (p.Arg2072Gln)
|
rs373126381
|
0.00001
|
NM_006904.7(PRKDC):c.6288C>T (p.Pro2096=)
|
rs367613899
|
0.00001
|
NM_006904.7(PRKDC):c.631G>A (p.Ala211Thr)
|
rs778561823
|
0.00001
|
NM_006904.7(PRKDC):c.6414A>T (p.Val2138=)
|
rs946805909
|
0.00001
|
NM_006904.7(PRKDC):c.6415C>T (p.Pro2139Ser)
|
rs2088597912
|
0.00001
|
NM_006904.7(PRKDC):c.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.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_006904.7(PRKDC):c.10015A>G (p.Asn3339Asp)
|
|
|
NM_006904.7(PRKDC):c.10026C>T (p.Ser3342=)
|
|
|
NM_006904.7(PRKDC):c.10041C>T (p.Cys3347=)
|
|
|
NM_006904.7(PRKDC):c.10053C>T (p.Ile3351=)
|
|
|
NM_006904.7(PRKDC):c.10104G>A (p.Glu3368=)
|
|
|
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.10125G>A (p.Ala3375=)
|
|
|
NM_006904.7(PRKDC):c.1014G>T (p.Leu338=)
|
|
|
NM_006904.7(PRKDC):c.10170G>A (p.Gln3390=)
|
|
|
NM_006904.7(PRKDC):c.10173G>A (p.Ala3391=)
|
|
|
NM_006904.7(PRKDC):c.10188C>G (p.Ala3396=)
|
|
|
NM_006904.7(PRKDC):c.1020C>T (p.Tyr340=)
|
|
|
NM_006904.7(PRKDC):c.10227G>C (p.Val3409=)
|
|
|
NM_006904.7(PRKDC):c.10236T>C (p.Ala3412=)
|
|
|
NM_006904.7(PRKDC):c.1023T>C (p.Phe341=)
|
|
|
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.10278G>A (p.Lys3426=)
|
|
|
NM_006904.7(PRKDC):c.10293A>G (p.Ala3431=)
|
rs2087045863
|
|
NM_006904.7(PRKDC):c.10298-118_10298-116del
|
|
|
NM_006904.7(PRKDC):c.10298-131G>C
|
|
|
NM_006904.7(PRKDC):c.10298-18C>T
|
|
|
NM_006904.7(PRKDC):c.10298-215_10298-214del
|
|
|
NM_006904.7(PRKDC):c.1029G>A (p.Glu343=)
|
|
|
NM_006904.7(PRKDC):c.10421G>A (p.Arg3474Gln)
|
rs761784130
|
|
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.1047C>T (p.Ile349=)
|
|
|
NM_006904.7(PRKDC):c.10509G>C (p.Val3503=)
|
|
|
NM_006904.7(PRKDC):c.1053T>C (p.Asn351=)
|
|
|
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.1065C>T (p.Asn355=)
|
|
|
NM_006904.7(PRKDC):c.10665G>A (p.Val3555=)
|
|
|
NM_006904.7(PRKDC):c.10668A>T (p.Ala3556=)
|
|
|
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.1075T>C (p.Leu359=)
|
|
|
NM_006904.7(PRKDC):c.10768A>G (p.Asn3590Asp)
|
|
|
NM_006904.7(PRKDC):c.10786C>T (p.Leu3596=)
|
rs1589696373
|
|
NM_006904.7(PRKDC):c.10797C>T (p.Thr3599=)
|
|
|
NM_006904.7(PRKDC):c.10842T>C (p.Tyr3614=)
|
rs925435577
|
|
NM_006904.7(PRKDC):c.10860A>G (p.Pro3620=)
|
|
|
NM_006904.7(PRKDC):c.10863G>A (p.Lys3621=)
|
|
|
NM_006904.7(PRKDC):c.10872C>G (p.Gly3624=)
|
|
|
NM_006904.7(PRKDC):c.10878G>A (p.Gly3626=)
|
|
|
NM_006904.7(PRKDC):c.1089C>T (p.Ile363=)
|
|
|
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.10959A>G (p.Arg3653=)
|
|
|
NM_006904.7(PRKDC):c.11013C>T (p.Asn3671=)
|
|
|
NM_006904.7(PRKDC):c.11022A>C (p.Ser3674=)
|
|
|
NM_006904.7(PRKDC):c.11028C>A (p.Pro3676=)
|
|
|
NM_006904.7(PRKDC):c.11028C>G (p.Pro3676=)
|
|
|
NM_006904.7(PRKDC):c.11028C>T (p.Pro3676=)
|
|
|
NM_006904.7(PRKDC):c.11082C>T (p.Phe3694=)
|
|
|
NM_006904.7(PRKDC):c.11083C>T (p.Leu3695=)
|
|
|
NM_006904.7(PRKDC):c.11088A>G (p.Arg3696=)
|
|
|
NM_006904.7(PRKDC):c.11100G>A (p.Glu3700=)
|
rs2154497614
|
|
NM_006904.7(PRKDC):c.11105C>T (p.Pro3702Leu)
|
|
|
NM_006904.7(PRKDC):c.11107+15A>G
|
|
|
NM_006904.7(PRKDC):c.11107+16G>C
|
rs2086768834
|
|
NM_006904.7(PRKDC):c.1110A>C (p.Ala370=)
|
|
|
NM_006904.7(PRKDC):c.1110A>T (p.Ala370=)
|
rs370275761
|
|
NM_006904.7(PRKDC):c.11124G>A (p.Arg3708=)
|
|
|
NM_006904.7(PRKDC):c.1113+12T>G
|
|
|
NM_006904.7(PRKDC):c.1113+14del
|
rs751700346
|
|
NM_006904.7(PRKDC):c.1113+18A>C
|
|
|
NM_006904.7(PRKDC):c.1113+18A>G
|
|
|
NM_006904.7(PRKDC):c.1113+18dup
|
|
|
NM_006904.7(PRKDC):c.1113+7C>T
|
|
|
NM_006904.7(PRKDC):c.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.1114-266del
|
rs869164665
|
|
NM_006904.7(PRKDC):c.11154A>G (p.Arg3718=)
|
|
|
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.11199A>G (p.Arg3733=)
|
|
|
NM_006904.7(PRKDC):c.11220C>T (p.Ile3740=)
|
|
|
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.11336C>T (p.Ser3779Phe)
|
|
|
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.11378T>C (p.Val3793Ala)
|
|
|
NM_006904.7(PRKDC):c.1140T>C (p.Asp380=)
|
|
|
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.1149C>T (p.Phe383=)
|
|
|
NM_006904.7(PRKDC):c.11506C>T (p.Pro3836Ser)
|
|
|
NM_006904.7(PRKDC):c.11508G>A (p.Pro3836=)
|
rs375417206
|
|
NM_006904.7(PRKDC):c.11514A>G (p.Glu3838=)
|
|
|
NM_006904.7(PRKDC):c.11556T>C (p.Val3852=)
|
rs2154497368
|
|
NM_006904.7(PRKDC):c.1156G>A (p.Val386Ile)
|
|
|
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.11666G>A (p.Arg3889Lys)
|
|
|
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.1170G>A (p.Gln390=)
|
|
|
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.11790G>A (p.Val3930=)
|
|
|
NM_006904.7(PRKDC):c.1182G>A (p.Gln394=)
|
|
|
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.11880T>C (p.Pro3960=)
|
|
|
NM_006904.7(PRKDC):c.11910G>C (p.Leu3970=)
|
|
|
NM_006904.7(PRKDC):c.11919A>C (p.Pro3973=)
|
|
|
NM_006904.7(PRKDC):c.11919A>G (p.Pro3973=)
|
rs768299434
|
|
NM_006904.7(PRKDC):c.1191C>T (p.Leu397=)
|
|
|
NM_006904.7(PRKDC):c.11934C>T (p.Gly3978=)
|
|
|
NM_006904.7(PRKDC):c.11967G>T (p.Arg3989=)
|
|
|
NM_006904.7(PRKDC):c.11973C>T (p.Phe3991=)
|
|
|
NM_006904.7(PRKDC):c.11988C>G (p.Gly3996=)
|
|
|
NM_006904.7(PRKDC):c.12000C>T (p.Asn4000=)
|
|
|
NM_006904.7(PRKDC):c.1200A>G (p.Thr400=)
|
|
|
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.12043-230del
|
rs536284158
|
|
NM_006904.7(PRKDC):c.12049G>C (p.Glu4017Gln)
|
rs375321876
|
|
NM_006904.7(PRKDC):c.12066A>G (p.Lys4022=)
|
|
|
NM_006904.7(PRKDC):c.12078A>G (p.Ser4026=)
|
|
|
NM_006904.7(PRKDC):c.12090A>G (p.Glu4030=)
|
|
|
NM_006904.7(PRKDC):c.1209T>A (p.Gly403=)
|
|
|
NM_006904.7(PRKDC):c.1209T>C (p.Gly403=)
|
|
|
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.12183-93G>C
|
rs72646391
|
|
NM_006904.7(PRKDC):c.12195C>G (p.Leu4065=)
|
|
|
NM_006904.7(PRKDC):c.12213C>G (p.Ala4071=)
|
|
|
NM_006904.7(PRKDC):c.12213C>T (p.Ala4071=)
|
|
|
NM_006904.7(PRKDC):c.12219C>T (p.Ala4073=)
|
|
|
NM_006904.7(PRKDC):c.1221T>A (p.Val407=)
|
|
|
NM_006904.7(PRKDC):c.12240G>T (p.Val4080=)
|
|
|
NM_006904.7(PRKDC):c.12321G>A (p.Leu4107=)
|
|
|
NM_006904.7(PRKDC):c.12321G>C (p.Leu4107=)
|
|
|
NM_006904.7(PRKDC):c.12333A>G (p.Ala4111=)
|
|
|
NM_006904.7(PRKDC):c.123A>G (p.Glu41=)
|
|
|
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.1299A>G (p.Pro433=)
|
|
|
NM_006904.7(PRKDC):c.1302T>C (p.Val434=)
|
|
|
NM_006904.7(PRKDC):c.1303C>T (p.Leu435=)
|
|
|
NM_006904.7(PRKDC):c.130C>T (p.Leu44=)
|
|
|
NM_006904.7(PRKDC):c.1311C>T (p.His437=)
|
|
|
NM_006904.7(PRKDC):c.1315G>A (p.Val439Met)
|
|
|
NM_006904.7(PRKDC):c.1320G>A (p.Val440=)
|
|
|
NM_006904.7(PRKDC):c.1320G>C (p.Val440=)
|
|
|
NM_006904.7(PRKDC):c.1332C>T (p.Asp444=)
|
|
|
NM_006904.7(PRKDC):c.1341A>G (p.Pro447=)
|
|
|
NM_006904.7(PRKDC):c.1347C>T (p.Tyr449=)
|
|
|
NM_006904.7(PRKDC):c.1363C>T (p.Leu455=)
|
|
|
NM_006904.7(PRKDC):c.1410A>G (p.Ala470=)
|
|
|
NM_006904.7(PRKDC):c.1416G>T (p.Gly472=)
|
|
|
NM_006904.7(PRKDC):c.1425C>T (p.Leu475=)
|
|
|
NM_006904.7(PRKDC):c.1434C>T (p.Cys478=)
|
|
|
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.1455G>A (p.Gln485=)
|
|
|
NM_006904.7(PRKDC):c.1464C>T (p.Ile488=)
|
|
|
NM_006904.7(PRKDC):c.1476T>A (p.Ser492=)
|
|
|
NM_006904.7(PRKDC):c.1494A>G (p.Pro498=)
|
|
|
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.1515T>G (p.Ser505=)
|
|
|
NM_006904.7(PRKDC):c.1536G>C (p.Gly512=)
|
|
|
NM_006904.7(PRKDC):c.1542C>T (p.Val514=)
|
|
|
NM_006904.7(PRKDC):c.155-14A>G
|
|
|
NM_006904.7(PRKDC):c.1551C>G (p.Gly517=)
|
|
|
NM_006904.7(PRKDC):c.1563G>T (p.Val521=)
|
|
|
NM_006904.7(PRKDC):c.1566C>G (p.Pro522=)
|
|
|
NM_006904.7(PRKDC):c.1569A>G (p.Thr523=)
|
|
|
NM_006904.7(PRKDC):c.1590C>T (p.Leu530=)
|
rs753715592
|
|
NM_006904.7(PRKDC):c.159A>G (p.Leu53=)
|
|
|
NM_006904.7(PRKDC):c.1608C>T (p.Ser536=)
|
|
|
NM_006904.7(PRKDC):c.1610C>G (p.Ser537Cys)
|
|
|
NM_006904.7(PRKDC):c.1611T>A (p.Ser537=)
|
|
|
NM_006904.7(PRKDC):c.1614C>T (p.Asp538=)
|
|
|
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.162G>A (p.Gln54=)
|
|
|
NM_006904.7(PRKDC):c.1638A>G (p.Ala546=)
|
|
|
NM_006904.7(PRKDC):c.1644A>G (p.Glu548=)
|
|
|
NM_006904.7(PRKDC):c.165A>G (p.Thr55=)
|
|
|
NM_006904.7(PRKDC):c.1686T>C (p.His562=)
|
|
|
NM_006904.7(PRKDC):c.1698T>C (p.Asp566=)
|
|
|
NM_006904.7(PRKDC):c.169T>C (p.Leu57=)
|
|
|
NM_006904.7(PRKDC):c.1716T>C (p.Val572=)
|
|
|
NM_006904.7(PRKDC):c.1722G>A (p.Lys574=)
|
|
|
NM_006904.7(PRKDC):c.1725T>C (p.Ile575=)
|
|
|
NM_006904.7(PRKDC):c.1731G>A (p.Glu577=)
|
|
|
NM_006904.7(PRKDC):c.1746A>G (p.Thr582=)
|
|
|
NM_006904.7(PRKDC):c.1750G>C (p.Glu584Gln)
|
|
|
NM_006904.7(PRKDC):c.1761T>A (p.Thr587=)
|
|
|
NM_006904.7(PRKDC):c.1761T>G (p.Thr587=)
|
|
|
NM_006904.7(PRKDC):c.1767G>C (p.Gly589=)
|
|
|
NM_006904.7(PRKDC):c.1770A>G (p.Glu590=)
|
|
|
NM_006904.7(PRKDC):c.1777-19G>C
|
rs2154503561
|
|
NM_006904.7(PRKDC):c.1777-647G>A
|
|
|
NM_006904.7(PRKDC):c.1777-8T>C
|
|
|
NM_006904.7(PRKDC):c.1779T>C (p.Asn593=)
|
|
|
NM_006904.7(PRKDC):c.1781G>A (p.Gly594Glu)
|
|
|
NM_006904.7(PRKDC):c.1782A>C (p.Gly594=)
|
|
|
NM_006904.7(PRKDC):c.1791G>T (p.Ala597=)
|
|
|
NM_006904.7(PRKDC):c.1804A>G (p.Met602Val)
|
|
|
NM_006904.7(PRKDC):c.180C>G (p.Ser60=)
|
|
|
NM_006904.7(PRKDC):c.180C>T (p.Ser60=)
|
|
|
NM_006904.7(PRKDC):c.1827G>A (p.Ala609=)
|
rs538352579
|
|
NM_006904.7(PRKDC):c.1827G>C (p.Ala609=)
|
|
|
NM_006904.7(PRKDC):c.1827G>T (p.Ala609=)
|
|
|
NM_006904.7(PRKDC):c.1845T>G (p.Ala615=)
|
|
|
NM_006904.7(PRKDC):c.1863G>A (p.Ser621=)
|
|
|
NM_006904.7(PRKDC):c.1866T>C (p.Ala622=)
|
|
|
NM_006904.7(PRKDC):c.1869C>T (p.Phe623=)
|
|
|
NM_006904.7(PRKDC):c.1876C>T (p.Leu626=)
|
|
|
NM_006904.7(PRKDC):c.1884A>G (p.Glu628=)
|
|
|
NM_006904.7(PRKDC):c.1887T>C (p.Phe629=)
|
|
|
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.1914A>G (p.Gln638=)
|
|
|
NM_006904.7(PRKDC):c.1920A>G (p.Glu640=)
|
|
|
NM_006904.7(PRKDC):c.1929A>G (p.Glu643=)
|
|
|
NM_006904.7(PRKDC):c.192T>G (p.Gly64=)
|
|
|
NM_006904.7(PRKDC):c.1938G>A (p.Val646=)
|
|
|
NM_006904.7(PRKDC):c.1941C>T (p.Tyr647=)
|
|
|
NM_006904.7(PRKDC):c.1950A>G (p.Ser650=)
|
|
|
NM_006904.7(PRKDC):c.1968A>G (p.Gln656=)
|
rs375910031
|
|
NM_006904.7(PRKDC):c.1977G>A (p.Arg659=)
|
|
|
NM_006904.7(PRKDC):c.1980G>A (p.Leu660=)
|
|
|
NM_006904.7(PRKDC):c.1983C>T (p.Pro661=)
|
|
|
NM_006904.7(PRKDC):c.198T>A (p.Leu66=)
|
|
|
NM_006904.7(PRKDC):c.1995T>G (p.Gly665=)
|
|
|
NM_006904.7(PRKDC):c.2010T>A (p.Leu670=)
|
|
|
NM_006904.7(PRKDC):c.2017A>G (p.Thr673Ala)
|
|
|
NM_006904.7(PRKDC):c.2019A>C (p.Thr673=)
|
|
|
NM_006904.7(PRKDC):c.201A>G (p.Val67=)
|
|
|
NM_006904.7(PRKDC):c.2022A>G (p.Val674=)
|
|
|
NM_006904.7(PRKDC):c.2028T>C (p.Asn676=)
|
|
|
NM_006904.7(PRKDC):c.2037A>G (p.Lys679=)
|
|
|
NM_006904.7(PRKDC):c.2049C>T (p.Phe683=)
|
|
|
NM_006904.7(PRKDC):c.2052+10_2052+13del
|
|
|
NM_006904.7(PRKDC):c.2052+11C>G
|
rs769287265
|
|
NM_006904.7(PRKDC):c.2052+18del
|
|
|
NM_006904.7(PRKDC):c.2053-15T>C
|
|
|
NM_006904.7(PRKDC):c.2055A>G (p.Gly685=)
|
|
|
NM_006904.7(PRKDC):c.2094A>G (p.Pro698=)
|
|
|
NM_006904.7(PRKDC):c.2094A>T (p.Pro698=)
|
|
|
NM_006904.7(PRKDC):c.2097A>G (p.Glu699=)
|
|
|
NM_006904.7(PRKDC):c.2100G>A (p.Lys700=)
|
|
|
NM_006904.7(PRKDC):c.2101T>C (p.Tyr701His)
|
|
|
NM_006904.7(PRKDC):c.2109C>T (p.Cys703=)
|
|
|
NM_006904.7(PRKDC):c.2116T>C (p.Leu706=)
|
|
|
NM_006904.7(PRKDC):c.2118A>G (p.Leu706=)
|
|
|
NM_006904.7(PRKDC):c.2121T>C (p.Phe707=)
|
|
|
NM_006904.7(PRKDC):c.2124G>A (p.Val708=)
|
|
|
NM_006904.7(PRKDC):c.2127A>G (p.Lys709=)
|
|
|
NM_006904.7(PRKDC):c.2139+32_2139+34del
|
rs371404425
|
|
NM_006904.7(PRKDC):c.2140-16C>G
|
|
|
NM_006904.7(PRKDC):c.2140-283dup
|
rs375267637
|
|
NM_006904.7(PRKDC):c.2160G>A (p.Gln720=)
|
|
|
NM_006904.7(PRKDC):c.2169T>C (p.Asp723=)
|
|
|
NM_006904.7(PRKDC):c.2193C>G (p.Thr731=)
|
|
|
NM_006904.7(PRKDC):c.2199T>A (p.Leu733=)
|
|
|
NM_006904.7(PRKDC):c.219C>G (p.Leu73=)
|
|
|
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.2233G>A (p.Val745Ile)
|
|
|
NM_006904.7(PRKDC):c.2238A>G (p.Arg746=)
|
|
|
NM_006904.7(PRKDC):c.2253A>C (p.Ala751=)
|
|
|
NM_006904.7(PRKDC):c.2256G>A (p.Leu752=)
|
|
|
NM_006904.7(PRKDC):c.2259+12C>T
|
|
|
NM_006904.7(PRKDC):c.2259+187_2259+188dup
|
|
|
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.2289C>A (p.Thr763=)
|
|
|
NM_006904.7(PRKDC):c.2289C>T (p.Thr763=)
|
|
|
NM_006904.7(PRKDC):c.2292C>G (p.Pro764=)
|
|
|
NM_006904.7(PRKDC):c.2292C>T (p.Pro764=)
|
|
|
NM_006904.7(PRKDC):c.2307C>A (p.Gly769=)
|
|
|
NM_006904.7(PRKDC):c.231+10C>T
|
|
|
NM_006904.7(PRKDC):c.231+20T>A
|
|
|
NM_006904.7(PRKDC):c.2310G>A (p.Leu770=)
|
|
|
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.2322A>G (p.Glu774=)
|
|
|
NM_006904.7(PRKDC):c.2332A>G (p.Ile778Val)
|
|
|
NM_006904.7(PRKDC):c.2334T>A (p.Ile778=)
|
|
|
NM_006904.7(PRKDC):c.2361T>C (p.Pro787=)
|
|
|
NM_006904.7(PRKDC):c.2367C>T (p.Tyr789=)
|
rs2090170044
|
|
NM_006904.7(PRKDC):c.2388G>A (p.Leu796=)
|
|
|
NM_006904.7(PRKDC):c.2394A>G (p.Gly798=)
|
|
|
NM_006904.7(PRKDC):c.2397C>T (p.Tyr799=)
|
|
|
NM_006904.7(PRKDC):c.2403G>A (p.Lys801=)
|
|
|
NM_006904.7(PRKDC):c.2419+15A>C
|
|
|
NM_006904.7(PRKDC):c.2420-16C>T
|
|
|
NM_006904.7(PRKDC):c.2421T>C (p.Asp807=)
|
|
|
NM_006904.7(PRKDC):c.2436C>T (p.Asn812=)
|
|
|
NM_006904.7(PRKDC):c.243T>C (p.Cys81=)
|
|
|
NM_006904.7(PRKDC):c.2442A>G (p.Glu814=)
|
|
|
NM_006904.7(PRKDC):c.2454T>G (p.Leu818=)
|
|
|
NM_006904.7(PRKDC):c.2466C>T (p.Ala822=)
|
rs1288218976
|
|
NM_006904.7(PRKDC):c.2472A>G (p.Lys824=)
|
|
|
NM_006904.7(PRKDC):c.2496G>A (p.Lys832=)
|
|
|
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.2535A>G (p.Ala845=)
|
|
|
NM_006904.7(PRKDC):c.2542T>C (p.Leu848=)
|
|
|
NM_006904.7(PRKDC):c.2554A>C (p.Arg852=)
|
|
|
NM_006904.7(PRKDC):c.255C>T (p.Ile85=)
|
|
|
NM_006904.7(PRKDC):c.2562A>G (p.Arg854=)
|
|
|
NM_006904.7(PRKDC):c.2584C>T (p.Leu862=)
|
rs1477652103
|
|
NM_006904.7(PRKDC):c.2586A>C (p.Leu862=)
|
|
|
NM_006904.7(PRKDC):c.258A>G (p.Leu86=)
|
|
|
NM_006904.7(PRKDC):c.2595A>G (p.Gln865=)
|
|
|
NM_006904.7(PRKDC):c.2613G>T (p.Leu871=)
|
|
|
NM_006904.7(PRKDC):c.2618-20dup
|
|
|
NM_006904.7(PRKDC):c.2619C>T (p.Val873=)
|
|
|
NM_006904.7(PRKDC):c.2622G>A (p.Thr874=)
|
|
|
NM_006904.7(PRKDC):c.2622G>T (p.Thr874=)
|
|
|
NM_006904.7(PRKDC):c.2648A>G (p.Tyr883Cys)
|
|
|
NM_006904.7(PRKDC):c.2655C>T (p.Ala885=)
|
|
|
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.2674C>T (p.Leu892=)
|
|
|
NM_006904.7(PRKDC):c.267A>G (p.Leu89=)
|
|
|
NM_006904.7(PRKDC):c.2685A>G (p.Ala895=)
|
|
|
NM_006904.7(PRKDC):c.2688G>A (p.Val896=)
|
|
|
NM_006904.7(PRKDC):c.2691C>A (p.Pro897=)
|
|
|
NM_006904.7(PRKDC):c.2694T>C (p.Phe898=)
|
rs768585182
|
|
NM_006904.7(PRKDC):c.2706A>G (p.Lys902=)
|
|
|
NM_006904.7(PRKDC):c.2712C>T (p.Val904=)
|
|
|
NM_006904.7(PRKDC):c.271A>G (p.Ile91Val)
|
|
|
NM_006904.7(PRKDC):c.2724T>C (p.Asp908=)
|
|
|
NM_006904.7(PRKDC):c.2736T>G (p.Pro912=)
|
|
|
NM_006904.7(PRKDC):c.2739A>G (p.Arg913=)
|
|
|
NM_006904.7(PRKDC):c.2754G>A (p.Ala918=)
|
|
|
NM_006904.7(PRKDC):c.2754G>T (p.Ala918=)
|
|
|
NM_006904.7(PRKDC):c.2757C>G (p.Leu919=)
|
|
|
NM_006904.7(PRKDC):c.2757C>T (p.Leu919=)
|
|
|
NM_006904.7(PRKDC):c.2760A>G (p.Thr920=)
|
rs745648790
|
|
NM_006904.7(PRKDC):c.2778T>C (p.Thr926=)
|
|
|
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.2829C>T (p.Gly943=)
|
|
|
NM_006904.7(PRKDC):c.282A>G (p.Glu94=)
|
|
|
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.2844G>A (p.Met948Ile)
|
|
|
NM_006904.7(PRKDC):c.2871C>T (p.Pro957=)
|
|
|
NM_006904.7(PRKDC):c.2883C>A (p.Leu961=)
|
|
|
NM_006904.7(PRKDC):c.2883C>G (p.Leu961=)
|
|
|
NM_006904.7(PRKDC):c.2895G>A (p.Thr965=)
|
|
|
NM_006904.7(PRKDC):c.2905C>T (p.Leu969=)
|
|
|
NM_006904.7(PRKDC):c.2919G>A (p.Ala973=)
|
rs372912665
|
|
NM_006904.7(PRKDC):c.2919G>C (p.Ala973=)
|
|
|
NM_006904.7(PRKDC):c.2925T>C (p.Asp975=)
|
|
|
NM_006904.7(PRKDC):c.2940A>C (p.Thr980=)
|
|
|
NM_006904.7(PRKDC):c.2940A>G (p.Thr980=)
|
|
|
NM_006904.7(PRKDC):c.2943G>A (p.Arg981=)
|
|
|
NM_006904.7(PRKDC):c.2947C>T (p.Leu983=)
|
|
|
NM_006904.7(PRKDC):c.2949G>A (p.Leu983=)
|
|
|
NM_006904.7(PRKDC):c.2958A>G (p.Pro986=)
|
rs368018782
|
|
NM_006904.7(PRKDC):c.2988T>A (p.Thr996=)
|
|
|
NM_006904.7(PRKDC):c.2994C>T (p.Asn998=)
|
|
|
NM_006904.7(PRKDC):c.3027A>G (p.Leu1009=)
|
|
|
NM_006904.7(PRKDC):c.3030A>G (p.Leu1010=)
|
|
|
NM_006904.7(PRKDC):c.3036T>C (p.Ala1012=)
|
|
|
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.3102A>G (p.Arg1034=)
|
|
|
NM_006904.7(PRKDC):c.3105A>G (p.Glu1035=)
|
rs2154502365
|
|
NM_006904.7(PRKDC):c.311C>G (p.Ser104Cys)
|
|
|
NM_006904.7(PRKDC):c.312T>A (p.Ser104=)
|
rs1308530637
|
|
NM_006904.7(PRKDC):c.3168C>A (p.Thr1056=)
|
|
|
NM_006904.7(PRKDC):c.3174G>A (p.Ser1058=)
|
|
|
NM_006904.7(PRKDC):c.3195C>T (p.Ser1065=)
|
|
|
NM_006904.7(PRKDC):c.3196C>T (p.Leu1066Phe)
|
|
|
NM_006904.7(PRKDC):c.3198T>C (p.Leu1066=)
|
|
|
NM_006904.7(PRKDC):c.3204T>C (p.Leu1068=)
|
|
|
NM_006904.7(PRKDC):c.3226C>T (p.Leu1076=)
|
|
|
NM_006904.7(PRKDC):c.3237A>T (p.Ser1079=)
|
rs147895173
|
|
NM_006904.7(PRKDC):c.324+12A>G
|
|
|
NM_006904.7(PRKDC):c.3240T>G (p.Leu1080=)
|
|
|
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.3270-12dup
|
rs772109927
|
|
NM_006904.7(PRKDC):c.3270-13_3270-10del
|
|
|
NM_006904.7(PRKDC):c.3270-19C>T
|
|
|
NM_006904.7(PRKDC):c.3276A>G (p.Glu1092=)
|
|
|
NM_006904.7(PRKDC):c.3288G>A (p.Val1096=)
|
|
|
NM_006904.7(PRKDC):c.3300G>T (p.Val1100=)
|
|
|
NM_006904.7(PRKDC):c.3315G>A (p.Val1105=)
|
rs56047668
|
|
NM_006904.7(PRKDC):c.3317T>C (p.Ile1106Thr)
|
|
|
NM_006904.7(PRKDC):c.3321C>T (p.Tyr1107=)
|
|
|
NM_006904.7(PRKDC):c.3330T>C (p.Ser1110=)
|
|
|
NM_006904.7(PRKDC):c.3333G>C (p.Leu1111=)
|
|
|
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.3390C>T (p.Ala1130=)
|
|
|
NM_006904.7(PRKDC):c.3399C>T (p.His1133=)
|
|
|
NM_006904.7(PRKDC):c.339T>C (p.Ser113=)
|
|
|
NM_006904.7(PRKDC):c.3402A>G (p.Leu1134=)
|
|
|
NM_006904.7(PRKDC):c.3411C>A (p.Ile1137=)
|
|
|
NM_006904.7(PRKDC):c.3433T>C (p.Leu1145=)
|
|
|
NM_006904.7(PRKDC):c.3435A>G (p.Leu1145=)
|
|
|
NM_006904.7(PRKDC):c.3444A>G (p.Ala1148=)
|
|
|
NM_006904.7(PRKDC):c.3450A>G (p.Lys1150=)
|
rs1051973163
|
|
NM_006904.7(PRKDC):c.3456T>C (p.Arg1152=)
|
|
|
NM_006904.7(PRKDC):c.3464+12T>C
|
|
|
NM_006904.7(PRKDC):c.3464+131C>A
|
|
|
NM_006904.7(PRKDC):c.3464+18C>G
|
|
|
NM_006904.7(PRKDC):c.3465-18T>C
|
|
|
NM_006904.7(PRKDC):c.3481G>A (p.Ala1161Thr)
|
rs977593814
|
|
NM_006904.7(PRKDC):c.3483A>G (p.Ala1161=)
|
|
|
NM_006904.7(PRKDC):c.3486A>G (p.Ser1162=)
|
|
|
NM_006904.7(PRKDC):c.3487T>C (p.Leu1163=)
|
|
|
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.3570C>G (p.Leu1190=)
|
|
|
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.3600C>T (p.Gly1200=)
|
|
|
NM_006904.7(PRKDC):c.3615T>C (p.Asn1205=)
|
|
|
NM_006904.7(PRKDC):c.3622C>T (p.Leu1208=)
|
rs1589771763
|
|
NM_006904.7(PRKDC):c.3631G>A (p.Val1211Ile)
|
rs1438382972
|
|
NM_006904.7(PRKDC):c.3633T>A (p.Val1211=)
|
|
|
NM_006904.7(PRKDC):c.3640G>A (p.Glu1214Lys)
|
|
|
NM_006904.7(PRKDC):c.3648T>G (p.Gly1216=)
|
|
|
NM_006904.7(PRKDC):c.3651C>A (p.Val1217=)
|
|
|
NM_006904.7(PRKDC):c.3657T>C (p.Phe1219=)
|
|
|
NM_006904.7(PRKDC):c.3658C>A (p.Leu1220Ile)
|
|
|
NM_006904.7(PRKDC):c.3678G>A (p.Gly1226=)
|
|
|
NM_006904.7(PRKDC):c.3678G>C (p.Gly1226=)
|
|
|
NM_006904.7(PRKDC):c.3699G>A (p.Ser1233=)
|
|
|
NM_006904.7(PRKDC):c.3702C>T (p.Gly1234=)
|
|
|
NM_006904.7(PRKDC):c.3714G>A (p.Gln1238=)
|
|
|
NM_006904.7(PRKDC):c.3720C>T (p.Thr1240=)
|
|
|
NM_006904.7(PRKDC):c.3723C>G (p.Leu1241=)
|
|
|
NM_006904.7(PRKDC):c.3724T>C (p.Leu1242=)
|
|
|
NM_006904.7(PRKDC):c.3735G>A (p.Arg1245=)
|
|
|
NM_006904.7(PRKDC):c.3777G>A (p.Leu1259=)
|
rs2154501965
|
|
NM_006904.7(PRKDC):c.3789G>A (p.Ala1263=)
|
|
|
NM_006904.7(PRKDC):c.378A>C (p.Pro126=)
|
|
|
NM_006904.7(PRKDC):c.378A>G (p.Pro126=)
|
|
|
NM_006904.7(PRKDC):c.3843C>T (p.Val1281=)
|
|
|
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.3848-14A>T
|
rs749113047
|
|
NM_006904.7(PRKDC):c.3848-18T>C
|
rs2089436800
|
|
NM_006904.7(PRKDC):c.3885T>G (p.Ala1295=)
|
rs968035693
|
|
NM_006904.7(PRKDC):c.3892T>C (p.Leu1298=)
|
|
|
NM_006904.7(PRKDC):c.3894A>G (p.Leu1298=)
|
rs2154501852
|
|
NM_006904.7(PRKDC):c.3897A>G (p.Glu1299=)
|
|
|
NM_006904.7(PRKDC):c.3930A>G (p.Glu1310=)
|
|
|
NM_006904.7(PRKDC):c.3940G>T (p.Gly1314Cys)
|
|
|
NM_006904.7(PRKDC):c.3945T>C (p.Thr1315=)
|
|
|
NM_006904.7(PRKDC):c.3948G>A (p.Gly1316=)
|
|
|
NM_006904.7(PRKDC):c.3948G>T (p.Gly1316=)
|
|
|
NM_006904.7(PRKDC):c.3951A>G (p.Ala1317=)
|
|
|
NM_006904.7(PRKDC):c.3966A>C (p.Thr1322=)
|
|
|
NM_006904.7(PRKDC):c.3975A>G (p.Gln1325=)
|
|
|
NM_006904.7(PRKDC):c.3978G>A (p.Glu1326=)
|
|
|
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.4017C>T (p.Val1339=)
|
|
|
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.405T>G (p.Leu135=)
|
|
|
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.4074C>G (p.Leu1358=)
|
|
|
NM_006904.7(PRKDC):c.4101C>T (p.His1367=)
|
|
|
NM_006904.7(PRKDC):c.4116G>C (p.Leu1372=)
|
|
|
NM_006904.7(PRKDC):c.4116G>T (p.Leu1372=)
|
|
|
NM_006904.7(PRKDC):c.4119G>T (p.Val1373=)
|
|
|
NM_006904.7(PRKDC):c.4125G>A (p.Thr1375=)
|
rs369402421
|
|
NM_006904.7(PRKDC):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_006904.7(PRKDC):c.4137C>A (p.Pro1379=)
|
|
|
NM_006904.7(PRKDC):c.4143C>T (p.Ser1381=)
|
rs2154501801
|
|
NM_006904.7(PRKDC):c.414T>C (p.Phe138=)
|
|
|
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.4235A>G (p.Lys1412Arg)
|
|
|
NM_006904.7(PRKDC):c.4242C>T (p.Ile1414=)
|
|
|
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.4340G>A (p.Arg1447Lys)
|
|
|
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.443A>G (p.Lys148Arg)
|
|
|
NM_006904.7(PRKDC):c.4455C>G (p.Ser1485=)
|
|
|
NM_006904.7(PRKDC):c.4455C>T (p.Ser1485=)
|
|
|
NM_006904.7(PRKDC):c.4458G>A (p.Leu1486=)
|
|
|
NM_006904.7(PRKDC):c.4536C>T (p.Ser1512=)
|
|
|
NM_006904.7(PRKDC):c.4566A>G (p.Gly1522=)
|
rs1589767137
|
|
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.4581C>T (p.Arg1527=)
|
|
|
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.4629G>A (p.Leu1543=)
|
|
|
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.4641G>A (p.Gln1547=)
|
|
|
NM_006904.7(PRKDC):c.4642G>A (p.Gly1548Ser)
|
|
|
NM_006904.7(PRKDC):c.4665T>C (p.His1555=)
|
|
|
NM_006904.7(PRKDC):c.4668G>A (p.Gly1556=)
|
|
|
NM_006904.7(PRKDC):c.4689C>T (p.Phe1563=)
|
|
|
NM_006904.7(PRKDC):c.4714T>C (p.Leu1572=)
|
|
|
NM_006904.7(PRKDC):c.4725G>A (p.Leu1575=)
|
|
|
NM_006904.7(PRKDC):c.474A>G (p.Gly158=)
|
|
|
NM_006904.7(PRKDC):c.4761G>A (p.Val1587=)
|
|
|
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.4788T>C (p.Val1596=)
|
|
|
NM_006904.7(PRKDC):c.4801T>C (p.Leu1601=)
|
|
|
NM_006904.7(PRKDC):c.484T>C (p.Leu162=)
|
|
|
NM_006904.7(PRKDC):c.486G>A (p.Leu162=)
|
|
|
NM_006904.7(PRKDC):c.4881G>A (p.Lys1627=)
|
|
|
NM_006904.7(PRKDC):c.4917C>G (p.Leu1639=)
|
|
|
NM_006904.7(PRKDC):c.4920A>G (p.Glu1640=)
|
|
|
NM_006904.7(PRKDC):c.4926A>G (p.Lys1642=)
|
|
|
NM_006904.7(PRKDC):c.4936C>T (p.Leu1646=)
|
rs1554638426
|
|
NM_006904.7(PRKDC):c.4950A>G (p.Ala1650=)
|
|
|
NM_006904.7(PRKDC):c.4953A>G (p.Lys1651=)
|
|
|
NM_006904.7(PRKDC):c.4963-11C>T
|
|
|
NM_006904.7(PRKDC):c.4980T>A (p.Ser1660=)
|
|
|
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.5052G>T (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.520G>A (p.Val174Ile)
|
|
|
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.5236-270dup
|
rs1279419423
|
|
NM_006904.7(PRKDC):c.5248T>C (p.Leu1750=)
|
rs1262345485
|
|
NM_006904.7(PRKDC):c.528G>A (p.Glu176=)
|
|
|
NM_006904.7(PRKDC):c.5316T>C (p.His1772=)
|
rs1589759765
|
|
NM_006904.7(PRKDC):c.5319C>A (p.Val1773=)
|
rs2154501314
|
|
NM_006904.7(PRKDC):c.531C>T (p.Leu177=)
|
|
|
NM_006904.7(PRKDC):c.5337A>G (p.Gln1779=)
|
|
|
NM_006904.7(PRKDC):c.5340C>T (p.Ser1780=)
|
|
|
NM_006904.7(PRKDC):c.534A>C (p.Leu178=)
|
|
|
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.537A>G (p.Gly179=)
|
|
|
NM_006904.7(PRKDC):c.5397A>G (p.Glu1799=)
|
|
|
NM_006904.7(PRKDC):c.5400C>T (p.Ser1800=)
|
rs776197997
|
|
NM_006904.7(PRKDC):c.5409A>G (p.Glu1803=)
|
|
|
NM_006904.7(PRKDC):c.540A>G (p.Leu180=)
|
|
|
NM_006904.7(PRKDC):c.541T>C (p.Leu181=)
|
|
|
NM_006904.7(PRKDC):c.5429C>T (p.Pro1810Leu)
|
|
|
NM_006904.7(PRKDC):c.5430C>T (p.Pro1810=)
|
|
|
NM_006904.7(PRKDC):c.5460G>A (p.Val1820=)
|
|
|
NM_006904.7(PRKDC):c.5463C>T (p.Asp1821=)
|
|
|
NM_006904.7(PRKDC):c.5466C>T (p.Arg1822=)
|
rs1418857770
|
|
NM_006904.7(PRKDC):c.5472C>T (p.Leu1824=)
|
|
|
NM_006904.7(PRKDC):c.5481G>A (p.Leu1827=)
|
|
|
NM_006904.7(PRKDC):c.5496C>T (p.Ser1832=)
|
|
|
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.5532G>A (p.Val1844=)
|
rs207469118
|
|
NM_006904.7(PRKDC):c.5532G>T (p.Val1844=)
|
|
|
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.5676G>A (p.Lys1892=)
|
|
|
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.576T>C (p.Asn192=)
|
|
|
NM_006904.7(PRKDC):c.5800C>T (p.Leu1934=)
|
rs2154500710
|
|
NM_006904.7(PRKDC):c.5817T>C (p.Leu1939=)
|
|
|
NM_006904.7(PRKDC):c.5820C>T (p.Tyr1940=)
|
|
|
NM_006904.7(PRKDC):c.5836A>G (p.Asn1946Asp)
|
|
|
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.5931T>C (p.Ile1977=)
|
|
|
NM_006904.7(PRKDC):c.5955G>A (p.Lys1985=)
|
|
|
NM_006904.7(PRKDC):c.5958C>T (p.Arg1986=)
|
|
|
NM_006904.7(PRKDC):c.5961C>G (p.Arg1987=)
|
|
|
NM_006904.7(PRKDC):c.5967T>C (p.Asn1989=)
|
rs1589750131
|
|
NM_006904.7(PRKDC):c.5979A>G (p.Glu1993=)
|
rs1589750121
|
|
NM_006904.7(PRKDC):c.597T>A (p.Ala199=)
|
|
|
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.6066T>C (p.Pro2022=)
|
|
|
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.6138A>G (p.Ser2046=)
|
|
|
NM_006904.7(PRKDC):c.6159A>G (p.Ser2053=)
|
|
|
NM_006904.7(PRKDC):c.6174C>T (p.Asp2058=)
|
|
|
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.6216G>A (p.Arg2072=)
|
|
|
NM_006904.7(PRKDC):c.6216G>C (p.Arg2072=)
|
|
|
NM_006904.7(PRKDC):c.6219C>T (p.Asp2073=)
|
|
|
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.6249G>C (p.Leu2083=)
|
|
|
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.6300G>A (p.Leu2100=)
|
|
|
NM_006904.7(PRKDC):c.6303C>G (p.Val2101=)
|
rs769866046
|
|
NM_006904.7(PRKDC):c.6324G>A (p.Leu2108=)
|
|
|
NM_006904.7(PRKDC):c.6330G>A (p.Pro2110=)
|
rs748977028
|
|
NM_006904.7(PRKDC):c.6339A>C (p.Gly2113=)
|
|
|
NM_006904.7(PRKDC):c.633A>G (p.Ala211=)
|
|
|
NM_006904.7(PRKDC):c.6345+10C>T
|
rs1215010878
|
|
NM_006904.7(PRKDC):c.6346-104dup
|
rs201478998
|
|
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.6384C>T (p.Phe2128=)
|
|
|
NM_006904.7(PRKDC):c.6408A>G (p.Pro2136=)
|
|
|
NM_006904.7(PRKDC):c.6426C>T (p.Ile2142=)
|
|
|
NM_006904.7(PRKDC):c.6440C>G (p.Ala2147Gly)
|
|
|
NM_006904.7(PRKDC):c.6441C>G (p.Ala2147=)
|
rs376156239
|
|
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.6474C>T (p.Arg2158=)
|
|
|
NM_006904.7(PRKDC):c.6505C>T (p.Leu2169=)
|
|
|
NM_006904.7(PRKDC):c.6513G>T (p.Leu2171=)
|
|
|
NM_006904.7(PRKDC):c.651A>G (p.Leu217=)
|
|
|
NM_006904.7(PRKDC):c.654T>G (p.Pro218=)
|
|
|
NM_006904.7(PRKDC):c.6558G>A (p.Val2186=)
|
|
|
NM_006904.7(PRKDC):c.658C>G (p.Leu220Val)
|
|
|
NM_006904.7(PRKDC):c.658C>T (p.Leu220=)
|
|
|
NM_006904.7(PRKDC):c.6595T>C (p.Leu2199=)
|
|
|
NM_006904.7(PRKDC):c.6606A>G (p.Pro2202=)
|
|
|
NM_006904.7(PRKDC):c.6609+11A>G
|
|
|
NM_006904.7(PRKDC):c.6609+19T>G
|
|
|
NM_006904.7(PRKDC):c.6609+7A>C
|
|
|
NM_006904.7(PRKDC):c.6610-12G>C
|
rs199932047
|
|
NM_006904.7(PRKDC):c.6610-14C>T
|
|
|
NM_006904.7(PRKDC):c.6612G>A (p.Gly2204=)
|
|
|
NM_006904.7(PRKDC):c.6615C>T (p.Val2205=)
|
|
|
NM_006904.7(PRKDC):c.6636A>C (p.Ala2212=)
|
|
|
NM_006904.7(PRKDC):c.6636A>G (p.Ala2212=)
|
|
|
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.6720C>G (p.Thr2240=)
|
|
|
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.6763T>C (p.Leu2255=)
|
|
|
NM_006904.7(PRKDC):c.684C>G (p.Ser228=)
|
|
|
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.6882C>A (p.Ile2294=)
|
|
|
NM_006904.7(PRKDC):c.6893+15_6893+18del
|
|
|
NM_006904.7(PRKDC):c.691C>T (p.Leu231=)
|
|
|
NM_006904.7(PRKDC):c.6924C>T (p.Ser2308=)
|
rs1051114079
|
|
NM_006904.7(PRKDC):c.6950C>T (p.Ala2317Val)
|
|
|
NM_006904.7(PRKDC):c.696C>T (p.Cys232=)
|
|
|
NM_006904.7(PRKDC):c.6999A>G (p.Arg2333=)
|
|
|
NM_006904.7(PRKDC):c.7006-16A>C
|
rs1311497378
|
|
NM_006904.7(PRKDC):c.7011G>A (p.Leu2337=)
|
|
|
NM_006904.7(PRKDC):c.7014G>A (p.Glu2338=)
|
|
|
NM_006904.7(PRKDC):c.7021C>T (p.Leu2341=)
|
rs2088354143
|
|
NM_006904.7(PRKDC):c.702C>T (p.Phe234=)
|
|
|
NM_006904.7(PRKDC):c.7032G>A (p.Leu2344=)
|
|
|
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.7161A>C (p.Pro2387=)
|
|
|
NM_006904.7(PRKDC):c.7176G>A (p.Val2392=)
|
|
|
NM_006904.7(PRKDC):c.721+17C>G
|
|
|
NM_006904.7(PRKDC):c.7215G>A (p.Val2405=)
|
|
|
NM_006904.7(PRKDC):c.722-10A>G
|
|
|
NM_006904.7(PRKDC):c.7221A>G (p.Gly2407=)
|
|
|
NM_006904.7(PRKDC):c.7239C>G (p.Phe2413Leu)
|
|
|
NM_006904.7(PRKDC):c.7245A>G (p.Leu2415=)
|
rs2154500189
|
|
NM_006904.7(PRKDC):c.726C>G (p.Pro242=)
|
|
|
NM_006904.7(PRKDC):c.726C>T (p.Pro242=)
|
|
|
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.7368C>T (p.Asn2456=)
|
|
|
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.7410G>A (p.Arg2470=)
|
|
|
NM_006904.7(PRKDC):c.7449T>C (p.Asn2483=)
|
|
|
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.748A>G (p.Asn250Asp)
|
|
|
NM_006904.7(PRKDC):c.7491A>G (p.Glu2497=)
|
|
|
NM_006904.7(PRKDC):c.7506A>G (p.Ala2502=)
|
|
|
NM_006904.7(PRKDC):c.7518G>C (p.Leu2506=)
|
rs990430158
|
|
NM_006904.7(PRKDC):c.7542C>T (p.Asn2514=)
|
|
|
NM_006904.7(PRKDC):c.7553+13C>T
|
|
|
NM_006904.7(PRKDC):c.7554-9G>A
|
rs1427010681
|
|
NM_006904.7(PRKDC):c.7555T>C (p.Leu2519=)
|
|
|
NM_006904.7(PRKDC):c.757C>T (p.Leu253=)
|
|
|
NM_006904.7(PRKDC):c.7596T>C (p.Pro2532=)
|
|
|
NM_006904.7(PRKDC):c.7604C>T (p.Thr2535Ile)
|
|
|
NM_006904.7(PRKDC):c.7605C>T (p.Thr2535=)
|
|
|
NM_006904.7(PRKDC):c.7611C>T (p.Asp2537=)
|
|
|
NM_006904.7(PRKDC):c.7617G>A (p.Leu2539=)
|
|
|
NM_006904.7(PRKDC):c.7626A>C (p.Leu2542=)
|
|
|
NM_006904.7(PRKDC):c.7669T>C (p.Leu2557=)
|
|
|
NM_006904.7(PRKDC):c.7677A>C (p.Thr2559=)
|
|
|
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.7692A>G (p.Glu2564=)
|
|
|
NM_006904.7(PRKDC):c.7707C>T (p.Ser2569=)
|
|
|
NM_006904.7(PRKDC):c.7716T>C (p.Tyr2572=)
|
|
|
NM_006904.7(PRKDC):c.7719A>C (p.Pro2573=)
|
|
|
NM_006904.7(PRKDC):c.7719A>G (p.Pro2573=)
|
|
|
NM_006904.7(PRKDC):c.771T>G (p.Arg257=)
|
|
|
NM_006904.7(PRKDC):c.7722C>T (p.Asn2574=)
|
|
|
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.7839G>A (p.Gln2613=)
|
|
|
NM_006904.7(PRKDC):c.784C>T (p.Leu262=)
|
|
|
NM_006904.7(PRKDC):c.7854C>G (p.Thr2618=)
|
|
|
NM_006904.7(PRKDC):c.7854C>T (p.Thr2618=)
|
|
|
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.792A>G (p.Arg264=)
|
|
|
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.795T>C (p.Tyr265=)
|
|
|
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.7995C>T (p.Asp2665=)
|
|
|
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.8007C>T (p.Asp2669=)
|
|
|
NM_006904.7(PRKDC):c.8013C>G (p.Thr2671=)
|
|
|
NM_006904.7(PRKDC):c.8017C>T (p.Pro2673Ser)
|
|
|
NM_006904.7(PRKDC):c.8042C>T (p.Ala2681Val)
|
|
|
NM_006904.7(PRKDC):c.8049G>A (p.Lys2683=)
|
rs2087956090
|
|
NM_006904.7(PRKDC):c.804C>T (p.Pro268=)
|
|
|
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.8127G>A (p.Gly2709=)
|
|
|
NM_006904.7(PRKDC):c.8127G>C (p.Gly2709=)
|
|
|
NM_006904.7(PRKDC):c.8127G>T (p.Gly2709=)
|
|
|
NM_006904.7(PRKDC):c.8130C>T (p.Asp2710=)
|
rs370260992
|
|
NM_006904.7(PRKDC):c.813C>T (p.Gly271=)
|
|
|
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.8163C>G (p.Gly2721=)
|
|
|
NM_006904.7(PRKDC):c.8163C>T (p.Gly2721=)
|
|
|
NM_006904.7(PRKDC):c.8169G>A (p.Thr2723=)
|
rs2154499479
|
|
NM_006904.7(PRKDC):c.8172C>G (p.Asp2724Glu)
|
|
|
NM_006904.7(PRKDC):c.8202G>A (p.Arg2734=)
|
|
|
NM_006904.7(PRKDC):c.8205C>T (p.Asp2735=)
|
|
|
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.8268A>G (p.Glu2756=)
|
|
|
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=)
|
rs148855050
|
|
NM_006904.7(PRKDC):c.8286A>G (p.Lys2762=)
|
|
|
NM_006904.7(PRKDC):c.829C>T (p.Leu277=)
|
|
|
NM_006904.7(PRKDC):c.8319A>G (p.Arg2773=)
|
|
|
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.8385G>A (p.Gln2795=)
|
|
|
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.8406A>G (p.Pro2802=)
|
|
|
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.8484A>G (p.Glu2828=)
|
|
|
NM_006904.7(PRKDC):c.8514A>G (p.Gln2838=)
|
|
|
NM_006904.7(PRKDC):c.852C>T (p.Thr284=)
|
|
|
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+178del
|
rs8178197
|
|
NM_006904.7(PRKDC):c.8577+8C>G
|
rs2154499276
|
|
NM_006904.7(PRKDC):c.8578-18G>C
|
|
|
NM_006904.7(PRKDC):c.861G>A (p.Leu287=)
|
|
|
NM_006904.7(PRKDC):c.870C>T (p.Tyr290=)
|
|
|
NM_006904.7(PRKDC):c.873G>A (p.Val291=)
|
|
|
NM_006904.7(PRKDC):c.8784-19T>A
|
|
|
NM_006904.7(PRKDC):c.8796A>G (p.Ser2932=)
|
|
|
NM_006904.7(PRKDC):c.8796A>T (p.Ser2932=)
|
|
|
NM_006904.7(PRKDC):c.8814C>T (p.Val2938=)
|
|
|
NM_006904.7(PRKDC):c.8817C>T (p.Leu2939=)
|
|
|
NM_006904.7(PRKDC):c.8823G>A (p.Gly2941=)
|
|
|
NM_006904.7(PRKDC):c.8853A>G (p.Gln2951=)
|
|
|
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.892T>C (p.Leu298=)
|
|
|
NM_006904.7(PRKDC):c.8961A>G (p.Thr2987=)
|
|
|
NM_006904.7(PRKDC):c.9072C>T (p.Pro3024=)
|
|
|
NM_006904.7(PRKDC):c.9078C>T (p.Asp3026=)
|
|
|
NM_006904.7(PRKDC):c.9081A>G (p.Leu3027=)
|
|
|
NM_006904.7(PRKDC):c.909C>T (p.His303=)
|
|
|
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.9135C>T (p.Ile3045=)
|
|
|
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.9180C>G (p.Ser3060=)
|
|
|
NM_006904.7(PRKDC):c.9219C>T (p.Leu3073=)
|
|
|
NM_006904.7(PRKDC):c.9225G>A (p.Lys3075=)
|
|
|
NM_006904.7(PRKDC):c.9243T>C (p.His3081=)
|
rs757686230
|
|
NM_006904.7(PRKDC):c.9316G>T (p.Gly3106Cys)
|
|
|
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.9337-24dup
|
rs11311765
|
|
NM_006904.7(PRKDC):c.9337-4_9337-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
|
rs11311765
|
|
NM_006904.7(PRKDC):c.9337-4del
|
rs11311765
|
|
NM_006904.7(PRKDC):c.9337-5T>A
|
|
|
NM_006904.7(PRKDC):c.9337-5_9337-4del
|
rs11311765
|
|
NM_006904.7(PRKDC):c.9337-6_9337-4del
|
rs11311765
|
|
NM_006904.7(PRKDC):c.933T>A (p.Ala311=)
|
|
|
NM_006904.7(PRKDC):c.9345T>C (p.Ser3115=)
|
rs764031635
|
|
NM_006904.7(PRKDC):c.9357C>T (p.Val3119=)
|
|
|
NM_006904.7(PRKDC):c.9368A>G (p.Gln3123Arg)
|
|
|
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.9464T>C (p.Val3155Ala)
|
|
|
NM_006904.7(PRKDC):c.9468C>T (p.Pro3156=)
|
|
|
NM_006904.7(PRKDC):c.9510T>C (p.Asp3170=)
|
rs757958003
|
|
NM_006904.7(PRKDC):c.9522C>T (p.Asp3174=)
|
|
|
NM_006904.7(PRKDC):c.9525A>G (p.Pro3175=)
|
|
|
NM_006904.7(PRKDC):c.9525A>T (p.Pro3175=)
|
|
|
NM_006904.7(PRKDC):c.9543C>T (p.Asp3181=)
|
rs1330672556
|
|
NM_006904.7(PRKDC):c.9552A>G (p.Thr3184=)
|
|
|
NM_006904.7(PRKDC):c.9557+18dup
|
|
|
NM_006904.7(PRKDC):c.9570C>G (p.Leu3190=)
|
|
|
NM_006904.7(PRKDC):c.9639C>T (p.Asp3213=)
|
|
|
NM_006904.7(PRKDC):c.963A>G (p.Lys321=)
|
|
|
NM_006904.7(PRKDC):c.9640C>T (p.Pro3214Ser)
|
|
|
NM_006904.7(PRKDC):c.966+20C>G
|
rs781539322
|
|
NM_006904.7(PRKDC):c.9669G>A (p.Gln3223=)
|
|
|
NM_006904.7(PRKDC):c.9687C>T (p.Ser3229=)
|
|
|
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.972T>C (p.Ser324=)
|
|
|
NM_006904.7(PRKDC):c.9738C>G (p.Ala3246=)
|
|
|
NM_006904.7(PRKDC):c.9738C>T (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.9804C>G (p.Thr3268=)
|
rs1589707360
|
|
NM_006904.7(PRKDC):c.9807A>G (p.Arg3269=)
|
|
|
NM_006904.7(PRKDC):c.9810C>T (p.Asp3270=)
|
rs1361121924
|
|
NM_006904.7(PRKDC):c.9819G>A (p.Leu3273=)
|
|
|
NM_006904.7(PRKDC):c.9837C>T (p.Ser3279=)
|
rs2154498352
|
|
NM_006904.7(PRKDC):c.9843C>T (p.Cys3281=)
|
|
|
NM_006904.7(PRKDC):c.9846C>T (p.Arg3282=)
|
|
|
NM_006904.7(PRKDC):c.984G>A (p.Ala328=)
|
|
|
NM_006904.7(PRKDC):c.9864C>T (p.Ser3288=)
|
|
|
NM_006904.7(PRKDC):c.9870C>A (p.Ser3290=)
|
rs759540759
|
|
NM_006904.7(PRKDC):c.9888G>A (p.Gln3296=)
|
|
|
NM_006904.7(PRKDC):c.9897T>C (p.Thr3299=)
|
|
|
NM_006904.7(PRKDC):c.9903G>A (p.Leu3301=)
|
|
|
NM_006904.7(PRKDC):c.9915T>C (p.Ser3305=)
|
|
|
NM_006904.7(PRKDC):c.9922+7T>C
|
|
|
NM_006904.7(PRKDC):c.9923-17dup
|
rs573568510
|
|
NM_006904.7(PRKDC):c.9923-18_9923-12del
|
|
|
NM_006904.7(PRKDC):c.9923-19T>G
|
|
|
NM_006904.7(PRKDC):c.9923-6C>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.9939A>C (p.Ser3313=)
|
|
|
NM_006904.7(PRKDC):c.993A>G (p.Ala331=)
|
|
|
NM_006904.7(PRKDC):c.9963G>A (p.Leu3321=)
|
rs1283705549
|
|
NM_006904.7(PRKDC):c.9966T>G (p.Ala3322=)
|
rs1589705432
|
|
NM_006904.7(PRKDC):c.996A>G (p.Glu332=)
|
|
|
NM_006904.7(PRKDC):c.9999T>C (p.Thr3333=)
|
|
|