NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)
|
rs142692907
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00026
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_007194.4(CHEK2):c.1008+13C>T
|
rs193264230
|
0.00011
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00009
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)
|
rs377668478
|
0.00006
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007194.4(CHEK2):c.319+3865T>C
|
rs964218389
|
0.00006
|
NM_007194.4(CHEK2):c.320-16T>C
|
rs773890954
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
NM_007194.4(CHEK2):c.847-17T>C
|
rs199780411
|
0.00006
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=)
|
rs531931623
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_007194.4(CHEK2):c.633T>C (p.Val211=)
|
rs1555924460
|
0.00005
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
NM_007194.4(CHEK2):c.1008+8A>G
|
rs139986197
|
0.00004
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu)
|
rs587780178
|
0.00004
|
NM_007194.4(CHEK2):c.150C>T (p.Ser50=)
|
rs967317594
|
0.00004
|
NM_007194.4(CHEK2):c.1543-20C>G
|
rs551645416
|
0.00004
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe)
|
rs765799649
|
0.00004
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
NM_007194.4(CHEK2):c.908+19A>T
|
rs759973493
|
0.00004
|
NM_007194.4(CHEK2):c.910A>G (p.Met304Val)
|
rs769436449
|
0.00004
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr)
|
rs773846607
|
0.00003
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
NM_007194.4(CHEK2):c.1259+14T>A
|
rs780245762
|
0.00003
|
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=)
|
rs753839004
|
0.00003
|
NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile)
|
rs548796284
|
0.00003
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=)
|
rs761278013
|
0.00003
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=)
|
rs781593101
|
0.00003
|
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=)
|
rs773670297
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007194.4(CHEK2):c.444+20G>T
|
rs755989738
|
0.00003
|
NM_007194.4(CHEK2):c.651A>G (p.Arg217=)
|
rs774245273
|
0.00003
|
NM_007194.4(CHEK2):c.6T>C (p.Ser2=)
|
rs768632104
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys)
|
rs148053495
|
0.00003
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=)
|
rs560781587
|
0.00002
|
NM_007194.4(CHEK2):c.1259+17T>C
|
rs746109434
|
0.00002
|
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His)
|
rs769933461
|
0.00002
|
NM_007194.4(CHEK2):c.127A>G (p.Thr43Ala)
|
rs749158713
|
0.00002
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
NM_007194.4(CHEK2):c.1462-20T>C
|
rs747767986
|
0.00002
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln)
|
rs373959274
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu)
|
rs779269031
|
0.00002
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe)
|
rs537051622
|
0.00002
|
NM_007194.4(CHEK2):c.428A>G (p.His143Arg)
|
rs587782300
|
0.00002
|
NM_007194.4(CHEK2):c.432T>C (p.Phe144=)
|
rs876658374
|
0.00002
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val)
|
rs876659950
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu)
|
rs144850845
|
0.00002
|
NM_007194.4(CHEK2):c.592+9A>G
|
rs538351542
|
0.00002
|
NM_007194.4(CHEK2):c.600C>G (p.Val200=)
|
rs141685349
|
0.00002
|
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly)
|
rs587782813
|
0.00002
|
NM_007194.4(CHEK2):c.60G>T (p.Gln20His)
|
rs375507194
|
0.00002
|
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=)
|
rs876659987
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_007194.4(CHEK2):c.684-20A>G
|
rs1057520266
|
0.00002
|
NM_007194.4(CHEK2):c.684-6C>T
|
rs776400765
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_007194.4(CHEK2):c.*6G>A
|
rs775315910
|
0.00001
|
NM_007194.4(CHEK2):c.1009-20A>G
|
rs946179247
|
0.00001
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His)
|
rs374660293
|
0.00001
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met)
|
rs202051128
|
0.00001
|
NM_007194.4(CHEK2):c.1035C>T (p.His345=)
|
rs756520206
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
NM_007194.4(CHEK2):c.1052A>C (p.Glu351Ala)
|
rs786202893
|
0.00001
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His)
|
rs199859140
|
0.00001
|
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=)
|
rs572668197
|
0.00001
|
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=)
|
rs761681864
|
0.00001
|
NM_007194.4(CHEK2):c.1095+8A>G
|
rs1057522814
|
0.00001
|
NM_007194.4(CHEK2):c.1096-16T>C
|
rs1377212608
|
0.00001
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg)
|
rs587782817
|
0.00001
|
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser)
|
rs587780168
|
0.00001
|
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)
|
rs730881690
|
0.00001
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp)
|
rs786202164
|
0.00001
|
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp)
|
rs527878975
|
0.00001
|
NM_007194.4(CHEK2):c.1197T>C (p.Val399=)
|
rs1057520268
|
0.00001
|
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp)
|
rs1342820782
|
0.00001
|
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)
|
rs121908704
|
0.00001
|
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr)
|
rs758206293
|
0.00001
|
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser)
|
rs369070738
|
0.00001
|
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His)
|
rs766191039
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1260-18C>T
|
rs1057521375
|
0.00001
|
NM_007194.4(CHEK2):c.1260-1G>A
|
rs786201906
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=)
|
rs781514295
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His)
|
rs878854915
|
0.00001
|
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala)
|
rs876660046
|
0.00001
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala)
|
rs139088611
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu)
|
rs1601852941
|
0.00001
|
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=)
|
rs776093527
|
0.00001
|
NM_007194.4(CHEK2):c.1375+2T>A
|
rs1483241325
|
0.00001
|
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro)
|
rs769729382
|
0.00001
|
NM_007194.4(CHEK2):c.1376-12T>C
|
rs876660970
|
0.00001
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=)
|
rs876659337
|
0.00001
|
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg)
|
rs529571124
|
0.00001
|
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=)
|
rs864622382
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr)
|
rs773600515
|
0.00001
|
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)
|
rs587780177
|
0.00001
|
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr)
|
rs548850521
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
NM_007194.4(CHEK2):c.1462-12A>G
|
rs1339529482
|
0.00001
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys)
|
rs730881694
|
0.00001
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=)
|
rs762041905
|
0.00001
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=)
|
rs1052262892
|
0.00001
|
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007194.4(CHEK2):c.1542+6C>T
|
rs1414780425
|
0.00001
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys)
|
rs753204096
|
0.00001
|
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)
|
rs786201796
|
0.00001
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val)
|
rs2052180370
|
0.00001
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.189A>G (p.Leu63=)
|
rs761028062
|
0.00001
|
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg)
|
rs864622684
|
0.00001
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
NM_007194.4(CHEK2):c.225T>G (p.Pro75=)
|
rs1217608176
|
0.00001
|
NM_007194.4(CHEK2):c.255T>C (p.Pro85=)
|
rs1418971926
|
0.00001
|
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu)
|
rs758792132
|
0.00001
|
NM_007194.4(CHEK2):c.288A>G (p.Leu96=)
|
rs767758092
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.292G>A (p.Ala98Thr)
|
rs1300016035
|
0.00001
|
NM_007194.4(CHEK2):c.307T>C (p.Phe103Leu)
|
rs587781669
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr)
|
rs876661027
|
0.00001
|
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys)
|
rs587781982
|
0.00001
|
NM_007194.4(CHEK2):c.354C>A (p.Asp118Glu)
|
rs757340619
|
0.00001
|
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys)
|
rs876658557
|
0.00001
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
0.00001
|
NM_007194.4(CHEK2):c.383C>T (p.Pro128Leu)
|
rs587781879
|
0.00001
|
NM_007194.4(CHEK2):c.384A>G (p.Pro128=)
|
rs766409666
|
0.00001
|
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu)
|
rs1275395933
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)
|
rs781678896
|
0.00001
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
NM_007194.4(CHEK2):c.444+6T>C
|
rs1060502720
|
0.00001
|
NM_007194.4(CHEK2):c.445-10T>C
|
rs1060504692
|
0.00001
|
NM_007194.4(CHEK2):c.445-14G>A
|
rs2053950383
|
0.00001
|
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys)
|
rs587781377
|
0.00001
|
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=)
|
rs1555926996
|
0.00001
|
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)
|
rs72552323
|
0.00001
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser)
|
rs587782413
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu)
|
rs876659233
|
0.00001
|
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)
|
rs876659400
|
0.00001
|
NM_007194.4(CHEK2):c.528G>C (p.Gly176=)
|
rs587780889
|
0.00001
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val)
|
rs786203483
|
0.00001
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro)
|
rs766599514
|
0.00001
|
NM_007194.4(CHEK2):c.592+18T>C
|
rs1206497698
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg)
|
rs753257724
|
0.00001
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
NM_007194.4(CHEK2):c.645A>G (p.Ala215=)
|
rs761630560
|
0.00001
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr)
|
rs775134484
|
0.00001
|
NM_007194.4(CHEK2):c.683+10T>C
|
rs747427230
|
0.00001
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
NM_007194.4(CHEK2):c.686G>T (p.Gly229Val)
|
rs778212685
|
0.00001
|
NM_007194.4(CHEK2):c.692G>A (p.Cys231Tyr)
|
rs1555921335
|
0.00001
|
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg)
|
rs587782419
|
0.00001
|
NM_007194.4(CHEK2):c.708G>C (p.Leu236=)
|
rs1359839685
|
0.00001
|
NM_007194.4(CHEK2):c.714C>T (p.Phe238=)
|
rs864622322
|
0.00001
|
NM_007194.4(CHEK2):c.716A>G (p.Glu239Gly)
|
rs763892124
|
0.00001
|
NM_007194.4(CHEK2):c.717G>A (p.Glu239=)
|
rs1555921253
|
0.00001
|
NM_007194.4(CHEK2):c.726A>G (p.Thr242=)
|
rs150150389
|
0.00001
|
NM_007194.4(CHEK2):c.729T>C (p.Cys243=)
|
rs770565516
|
0.00001
|
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg)
|
rs587778193
|
0.00001
|
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile)
|
rs142243299
|
0.00001
|
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala)
|
rs587780188
|
0.00001
|
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln)
|
rs730881686
|
0.00001
|
NM_007194.4(CHEK2):c.792+11A>G
|
rs765935437
|
0.00001
|
NM_007194.4(CHEK2):c.792+17G>A
|
rs1057523609
|
0.00001
|
NM_007194.4(CHEK2):c.792+5G>C
|
rs876658514
|
0.00001
|
NM_007194.4(CHEK2):c.793G>C (p.Asp265His)
|
rs1064793689
|
0.00001
|
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln)
|
rs749963436
|
0.00001
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_007194.4(CHEK2):c.846+3A>G
|
rs1476026799
|
0.00001
|
NM_007194.4(CHEK2):c.846+7A>G
|
rs763340730
|
0.00001
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
0.00001
|
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met)
|
rs756692505
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr)
|
rs876659553
|
0.00001
|
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln)
|
rs779607427
|
0.00001
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_007194.4(CHEK2):c.908+10A>G
|
rs774973319
|
0.00001
|
NM_007194.4(CHEK2):c.908+16T>G
|
rs1198651411
|
0.00001
|
NM_007194.4(CHEK2):c.908+18T>A
|
rs755416802
|
0.00001
|
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu)
|
rs1064795532
|
0.00001
|
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)
|
rs587782416
|
0.00001
|
NM_007194.4(CHEK2):c.996C>T (p.Leu332=)
|
rs1053994833
|
0.00001
|
NM_007194.4(CHEK2):c.997T>C (p.Leu333=)
|
rs1352758126
|
0.00001
|
NM_007194.4(CHEK2):c.*10T>G
|
rs2052178966
|
|
NM_007194.4(CHEK2):c.*16C>T
|
rs1057522648
|
|
NM_007194.4(CHEK2):c.*2C>A
|
|
|
NM_007194.4(CHEK2):c.-3G>C
|
rs876659027
|
|
NM_007194.4(CHEK2):c.-6-12T>A
|
rs1064793997
|
|
NM_007194.4(CHEK2):c.-6-6T>C
|
|
|
NM_007194.4(CHEK2):c.-6-6_-6-4del
|
rs1183266210
|
|
NM_007194.4(CHEK2):c.-6-8T>A
|
rs1555932995
|
|
NM_007194.4(CHEK2):c.-6-8T>G
|
rs1555932995
|
|
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr)
|
rs864622371
|
|
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro)
|
rs864622371
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1007A>C (p.Gln336Pro)
|
rs1300388084
|
|
NM_007194.4(CHEK2):c.1008+15C>G
|
rs1555915284
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
NM_007194.4(CHEK2):c.1008+4A>G
|
rs2052755619
|
|
NM_007194.4(CHEK2):c.1008+6A>G
|
|
|
NM_007194.4(CHEK2):c.1009-14G>C
|
rs1172442364
|
|
NM_007194.4(CHEK2):c.1009-16C>A
|
rs751749563
|
|
NM_007194.4(CHEK2):c.1009-18G>A
|
rs757393834
|
|
NM_007194.4(CHEK2):c.100C>A (p.Gln34Lys)
|
rs1231012263
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe)
|
rs587782441
|
|
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg)
|
rs374660293
|
|
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr)
|
rs371207635
|
|
NM_007194.4(CHEK2):c.1017T>G (p.His339Gln)
|
rs2052614326
|
|
NM_007194.4(CHEK2):c.1019A>C (p.Glu340Ala)
|
|
|
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val)
|
rs1555914358
|
|
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
NM_007194.4(CHEK2):c.1036C>G (p.Arg346Gly)
|
rs201206424
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala)
|
rs876659406
|
|
NM_007194.4(CHEK2):c.104C>A (p.Ser35Tyr)
|
rs786203185
|
|
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys)
|
rs786203185
|
|
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe)
|
rs786203185
|
|
NM_007194.4(CHEK2):c.1051G>A (p.Glu351Lys)
|
rs1555914308
|
|
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln)
|
rs1555914308
|
|
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser)
|
rs764181318
|
|
NM_007194.4(CHEK2):c.1060T>G (p.Leu354Val)
|
rs1555914287
|
|
NM_007194.4(CHEK2):c.1064T>C (p.Leu355Pro)
|
rs2052608641
|
|
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe)
|
rs765425451
|
|
NM_007194.4(CHEK2):c.1077del (p.Glu360fs)
|
rs2145816035
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
NM_007194.4(CHEK2):c.1095+11G>A
|
rs2052604253
|
|
NM_007194.4(CHEK2):c.1095+19G>C
|
rs200020484
|
|
NM_007194.4(CHEK2):c.1095+1G>T
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1096-10T>C
|
rs1555913946
|
|
NM_007194.4(CHEK2):c.1096-7A>T
|
rs2052567957
|
|
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn)
|
rs786202147
|
|
NM_007194.4(CHEK2):c.10G>A (p.Glu4Lys)
|
rs1555932959
|
|
NM_007194.4(CHEK2):c.110G>A (p.Gly37Asp)
|
rs764750609
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1113C>T (p.His371=)
|
rs876659094
|
|
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe)
|
rs147877722
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
NM_007194.4(CHEK2):c.1118A>C (p.Lys373Thr)
|
rs786202446
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
NM_007194.4(CHEK2):c.1123T>C (p.Leu375=)
|
rs2052563996
|
|
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val)
|
rs774192195
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr)
|
rs2054329519
|
|
NM_007194.4(CHEK2):c.1142T>C (p.Met381Thr)
|
rs1569114039
|
|
NM_007194.4(CHEK2):c.1149C>G (p.Thr383=)
|
rs1555913842
|
|
NM_007194.4(CHEK2):c.1154G>T (p.Cys385Phe)
|
rs145324174
|
|
NM_007194.4(CHEK2):c.1157G>T (p.Gly386Val)
|
rs1555913820
|
|
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro)
|
rs1060502696
|
|
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn)
|
rs587780168
|
|
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile)
|
rs587780168
|
|
NM_007194.4(CHEK2):c.1161C>G (p.Thr387=)
|
rs1601722925
|
|
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=)
|
rs878854911
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg)
|
rs730881690
|
|
NM_007194.4(CHEK2):c.1181A>G (p.Glu394Gly)
|
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1199G>T (p.Gly400Val)
|
rs1476312560
|
|
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val)
|
rs1175088679
|
|
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val)
|
rs1555913720
|
|
NM_007194.4(CHEK2):c.1205_1206inv (p.Ala402Glu)
|
|
|
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=)
|
rs1350419049
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.120C>T (p.Ser40=)
|
|
|
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn)
|
rs1555913715
|
|
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys)
|
rs1060502707
|
|
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1218T>G (p.Arg406=)
|
rs2052553322
|
|
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly)
|
rs1555913689
|
|
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)
|
rs121908694
|
|
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg)
|
rs587780172
|
|
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly)
|
rs587780172
|
|
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg)
|
rs2052550972
|
|
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn)
|
rs1555913662
|
|
NM_007194.4(CHEK2):c.1236T>A (p.Ser412Arg)
|
rs1601722002
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp)
|
rs748555394
|
|
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del)
|
rs760118917
|
|
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr)
|
rs1555913642
|
|
NM_007194.4(CHEK2):c.1247T>G (p.Ile416Ser)
|
rs1555913642
|
|
NM_007194.4(CHEK2):c.1250T>C (p.Leu417Pro)
|
rs1569113171
|
|
NM_007194.4(CHEK2):c.1252T>A (p.Phe418Ile)
|
rs1064793737
|
|
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu)
|
rs1064793737
|
|
NM_007194.4(CHEK2):c.1254T>A (p.Phe418Leu)
|
rs774870353
|
|
NM_007194.4(CHEK2):c.1255A>G (p.Ile419Val)
|
rs1569113123
|
|
NM_007194.4(CHEK2):c.1259+14T>C
|
rs780245762
|
|
NM_007194.4(CHEK2):c.1259+16A>G
|
rs756361647
|
|
NM_007194.4(CHEK2):c.1259+20C>T
|
rs777379343
|
|
NM_007194.4(CHEK2):c.1259+5G>A
|
rs1555913629
|
|
NM_007194.4(CHEK2):c.1259+5G>C
|
rs1555913629
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1259G>C (p.Cys420Ser)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1260-11C>G
|
rs1253886648
|
|
NM_007194.4(CHEK2):c.1260-12A>G
|
|
|
NM_007194.4(CHEK2):c.1260-13T>C
|
rs2052527910
|
|
NM_007194.4(CHEK2):c.1260-15T>G
|
rs1569112557
|
|
NM_007194.4(CHEK2):c.1260-18C>G
|
rs1057521375
|
|
NM_007194.4(CHEK2):c.1260-20CT[3]
|
rs760037989
|
|
NM_007194.4(CHEK2):c.1260-6A>G
|
rs767735261
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His)
|
rs1060502714
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=)
|
rs1257494163
|
|
NM_007194.4(CHEK2):c.1273C>G (p.Pro425Ala)
|
rs1423670346
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys)
|
rs1064795041
|
|
NM_007194.4(CHEK2):c.12G>A (p.Glu4=)
|
rs1213043094
|
|
NM_007194.4(CHEK2):c.1300G>A (p.Val434Met)
|
rs876660323
|
|
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His)
|
rs200050883
|
|
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly)
|
rs1569112074
|
|
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val)
|
rs1569112074
|
|
NM_007194.4(CHEK2):c.1315C>G (p.Gln439Glu)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu)
|
rs587780176
|
|
NM_007194.4(CHEK2):c.131G>C (p.Ser44Thr)
|
rs1569171123
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr)
|
rs1555913437
|
|
NM_007194.4(CHEK2):c.1352T>A (p.Val451Asp)
|
rs139088611
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.1359A>G (p.Ala453=)
|
rs1555913419
|
|
NM_007194.4(CHEK2):c.135G>A (p.Thr45=)
|
rs745423387
|
|
NM_007194.4(CHEK2):c.1366_1367dup (p.Glu457fs)
|
rs2145792867
|
|
NM_007194.4(CHEK2):c.136A>G (p.Met46Val)
|
rs1601852941
|
|
NM_007194.4(CHEK2):c.1375+17G>A
|
rs1257877166
|
|
NM_007194.4(CHEK2):c.1375+17del
|
rs1191159078
|
|
NM_007194.4(CHEK2):c.1375+1G>A
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+20A>G
|
rs2052510448
|
|
NM_007194.4(CHEK2):c.1376-4T>G
|
rs1601716727
|
|
NM_007194.4(CHEK2):c.1376-7_1376-4del
|
|
|
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=)
|
rs786201296
|
|
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly)
|
rs1555913188
|
|
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=)
|
rs764396738
|
|
NM_007194.4(CHEK2):c.1394A>G (p.Lys465Arg)
|
|
|
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)
|
rs876658456
|
|
NM_007194.4(CHEK2):c.1400T>C (p.Leu467Ser)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile)
|
rs876660084
|
|
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala)
|
rs763344790
|
|
NM_007194.4(CHEK2):c.1411C>T (p.Pro471Ser)
|
rs2052470634
|
|
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu)
|
rs1060502713
|
|
NM_007194.4(CHEK2):c.1414A>G (p.Lys472Glu)
|
rs2052470344
|
|
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg)
|
rs1064793511
|
|
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser)
|
rs540635787
|
|
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys)
|
rs142763740
|
|
NM_007194.4(CHEK2):c.1427C>G (p.Thr476Arg)
|
rs142763740
|
|
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=)
|
rs1060504697
|
|
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile)
|
rs762488591
|
|
NM_007194.4(CHEK2):c.1431A>C (p.Thr477=)
|
rs2052468226
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1444A>G (p.Arg482Gly)
|
rs1601715996
|
|
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser)
|
rs548850521
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+3G>A
|
rs1555913067
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1461+6T>C
|
rs1064795915
|
|
NM_007194.4(CHEK2):c.1461+8T>C
|
rs1057521960
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe)
|
rs730881694
|
|
NM_007194.4(CHEK2):c.1475_1477del (p.Lys492del)
|
rs1555912075
|
|
NM_007194.4(CHEK2):c.1478G>C (p.Arg493Thr)
|
rs1569104499
|
|
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)
|
rs767043399
|
|
NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs)
|
rs1555912060
|
|
NM_007194.4(CHEK2):c.1492C>T (p.Leu498Phe)
|
rs2052245756
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=)
|
rs587780890
|
|
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=)
|
rs1057521300
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=)
|
rs1060502721
|
|
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly)
|
rs1060502682
|
|
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=)
|
rs1555912021
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro)
|
rs1338238773
|
|
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His)
|
rs1569104011
|
|
NM_007194.4(CHEK2):c.1538C>A (p.Ala513Asp)
|
|
|
NM_007194.4(CHEK2):c.1542+11T>C
|
rs17881716
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1542+7G>A
|
rs4035547
|
|
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His)
|
rs747797219
|
|
NM_007194.4(CHEK2):c.1543-10T>C
|
rs1555911654
|
|
NM_007194.4(CHEK2):c.1543-12C>G
|
rs1555911657
|
|
NM_007194.4(CHEK2):c.1543-3C>T
|
rs759366945
|
|
NM_007194.4(CHEK2):c.1543C>A (p.Pro515Thr)
|
rs1399879170
|
|
NM_007194.4(CHEK2):c.1547CTA[1] (p.Thr517del)
|
rs1555911626
|
|
NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser)
|
rs1555911631
|
|
NM_007194.4(CHEK2):c.1552A>T (p.Ser518Cys)
|
rs753560465
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)
|
rs587780180
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=)
|
rs748954413
|
|
NM_007194.4(CHEK2):c.156C>G (p.Ser52=)
|
rs1555932466
|
|
NM_007194.4(CHEK2):c.1573G>C (p.Gly525Arg)
|
rs780512032
|
|
NM_007194.4(CHEK2):c.1577A>G (p.Glu526Gly)
|
rs746341976
|
|
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr)
|
rs1444665408
|
|
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln)
|
rs587781710
|
|
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter)
|
rs587781710
|
|
NM_007194.4(CHEK2):c.1592A>G (p.Glu531Gly)
|
rs1569102183
|
|
NM_007194.4(CHEK2):c.1596del (p.Thr533fs)
|
rs587781519
|
|
NM_007194.4(CHEK2):c.1597A>T (p.Thr533Ser)
|
rs562517792
|
|
NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu)
|
rs1555911558
|
|
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=)
|
rs1569102099
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
NM_007194.4(CHEK2):c.1606C>T (p.Pro536Ser)
|
|
|
NM_007194.4(CHEK2):c.1614G>C (p.Val538=)
|
|
|
NM_007194.4(CHEK2):c.1616_1627dup (p.Cys539_Val542dup)
|
rs1569101939
|
|
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=)
|
rs1194893297
|
|
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=)
|
rs773670297
|
|
NM_007194.4(CHEK2):c.169T>C (p.Ser57Pro)
|
rs2054323662
|
|
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys)
|
rs730881695
|
|
NM_007194.4(CHEK2):c.171T>C (p.Ser57=)
|
rs1555932401
|
|
NM_007194.4(CHEK2):c.17A>G (p.Asp6Gly)
|
|
|
NM_007194.4(CHEK2):c.180G>A (p.Leu60=)
|
rs2146148626
|
|
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly)
|
rs766499735
|
|
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe)
|
rs876659424
|
|
NM_007194.4(CHEK2):c.186C>T (p.Ser62=)
|
rs786203025
|
|
NM_007194.4(CHEK2):c.18T>C (p.Asp6=)
|
rs1555932937
|
|
NM_007194.4(CHEK2):c.194C>T (p.Thr65Ile)
|
rs864622684
|
|
NM_007194.4(CHEK2):c.196G>A (p.Val66Met)
|
rs730881696
|
|
NM_007194.4(CHEK2):c.1A>G (p.Met1Val)
|
rs863224748
|
|
NM_007194.4(CHEK2):c.200C>T (p.Ser67Phe)
|
rs886041171
|
|
NM_007194.4(CHEK2):c.213C>G (p.Leu71=)
|
rs1057524667
|
|
NM_007194.4(CHEK2):c.214T>C (p.Tyr72His)
|
rs1569170484
|
|
NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser)
|
rs769819013
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val)
|
rs1555932352
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.77DQEPE[3])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.239C>A (p.Pro80His)
|
rs876659006
|
|
NM_007194.4(CHEK2):c.240T>G (p.Pro80=)
|
rs878854918
|
|
NM_007194.4(CHEK2):c.243G>A (p.Glu81=)
|
rs1060504690
|
|
NM_007194.4(CHEK2):c.245_275delinsCT (p.Asp82fs)
|
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.249A>G (p.Gln83=)
|
rs776271158
|
|
NM_007194.4(CHEK2):c.252_254delinsGCT (p.Pro85Leu)
|
rs1569170273
|
|
NM_007194.4(CHEK2):c.254C>A (p.Pro85His)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.256G>C (p.Glu86Gln)
|
rs551930027
|
|
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr)
|
rs757530141
|
|
NM_007194.4(CHEK2):c.260_261insCCAAGAGCCTGAGGA (p.77DQEPE[3])
|
rs1555932249
|
|
NM_007194.4(CHEK2):c.267C>G (p.Thr89=)
|
rs1601851707
|
|
NM_007194.4(CHEK2):c.267C>T (p.Thr89=)
|
rs1601851707
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly)
|
rs1456931393
|
|
NM_007194.4(CHEK2):c.26C>T (p.Ala9Val)
|
rs1456931393
|
|
NM_007194.4(CHEK2):c.271_272delinsAA (p.Ala91Asn)
|
rs1555932194
|
|
NM_007194.4(CHEK2):c.274C>T (p.Pro92Ser)
|
rs1555932172
|
|
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg)
|
rs779269031
|
|
NM_007194.4(CHEK2):c.276C>G (p.Pro92=)
|
rs1478388236
|
|
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg)
|
rs730881697
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.280G>C (p.Ala94Pro)
|
rs753860983
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln)
|
rs750596499
|
|
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro)
|
rs750596499
|
|
NM_007194.4(CHEK2):c.298C>A (p.Gln100Lys)
|
rs2054311767
|
|
NM_007194.4(CHEK2):c.303T>A (p.Asp101Glu)
|
rs1569169871
|
|
NM_007194.4(CHEK2):c.305G>T (p.Gly102Val)
|
rs1555932082
|
|
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser)
|
rs876658140
|
|
NM_007194.4(CHEK2):c.319+16G>A
|
rs2054308633
|
|
NM_007194.4(CHEK2):c.319+17T>C
|
rs770423802
|
|
NM_007194.4(CHEK2):c.319+2T>C
|
|
|
NM_007194.4(CHEK2):c.319+6A>G
|
rs1555931991
|
|
NM_007194.4(CHEK2):c.319+7C>T
|
rs1057522753
|
|
NM_007194.4(CHEK2):c.319+8C>G
|
rs776443322
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.320-18C>T
|
rs2053968934
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-3C>T
|
|
|
NM_007194.4(CHEK2):c.320-7A>C
|
rs1555927424
|
|
NM_007194.4(CHEK2):c.320-7A>G
|
rs1555927424
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro)
|
rs369256181
|
|
NM_007194.4(CHEK2):c.331G>A (p.Asp111Asn)
|
rs1569159072
|
|
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys)
|
rs1060502689
|
|
NM_007194.4(CHEK2):c.338A>G (p.Tyr113Cys)
|
rs770343235
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys)
|
rs756949505
|
|
NM_007194.4(CHEK2):c.344T>C (p.Phe115Ser)
|
rs1060502706
|
|
NM_007194.4(CHEK2):c.347G>C (p.Gly116Ala)
|
rs745943179
|
|
NM_007194.4(CHEK2):c.350G>T (p.Arg117Met)
|
rs587781982
|
|
NM_007194.4(CHEK2):c.351G>A (p.Arg117=)
|
rs2053964612
|
|
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu)
|
rs757340619
|
|
NM_007194.4(CHEK2):c.359G>A (p.Ser120Asn)
|
rs786202246
|
|
NM_007194.4(CHEK2):c.35C>G (p.Ser12Cys)
|
rs1166395498
|
|
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe)
|
rs777887044
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
NM_007194.4(CHEK2):c.388C>T (p.Leu130=)
|
rs1057522274
|
|
NM_007194.4(CHEK2):c.38A>G (p.His13Arg)
|
rs1064793324
|
|
NM_007194.4(CHEK2):c.392A>T (p.Lys131Ile)
|
rs1569158689
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.3G>C (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys)
|
rs1569158606
|
|
NM_007194.4(CHEK2):c.414A>G (p.Thr138=)
|
rs876658162
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.429C>G (p.His143Gln)
|
rs1555927151
|
|
NM_007194.4(CHEK2):c.433C>A (p.Arg145=)
|
rs137853007
|
|
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro)
|
rs587781667
|
|
NM_007194.4(CHEK2):c.436A>T (p.Ile146Phe)
|
rs781678896
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
NM_007194.4(CHEK2):c.443G>C (p.Arg148Thr)
|
rs142966756
|
|
NM_007194.4(CHEK2):c.444+1G>C
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.444+3A>T
|
rs587781279
|
|
NM_007194.4(CHEK2):c.445-11C>T
|
rs1024561307
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-2A>G
|
rs1569158075
|
|
NM_007194.4(CHEK2):c.445-9C>G
|
rs1064794870
|
|
NM_007194.4(CHEK2):c.445G>C (p.Glu149Gln)
|
rs587782560
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
NM_007194.4(CHEK2):c.463T>G (p.Ser155Ala)
|
rs1175278074
|
|
NM_007194.4(CHEK2):c.467A>T (p.Tyr156Phe)
|
rs1555927004
|
|
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg)
|
rs1426424086
|
|
NM_007194.4(CHEK2):c.46A>G (p.Ser16Gly)
|
rs1426424086
|
|
NM_007194.4(CHEK2):c.471T>C (p.Ile157=)
|
rs374170772
|
|
NM_007194.4(CHEK2):c.474A>C (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys)
|
rs1060502718
|
|
NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu)
|
rs876659950
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
NM_007194.4(CHEK2):c.47G>A (p.Ser16Asn)
|
rs1060502705
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly)
|
rs730881683
|
|
NM_007194.4(CHEK2):c.488A>G (p.His163Arg)
|
rs752304641
|
|
NM_007194.4(CHEK2):c.490A>C (p.Ser164Arg)
|
rs2053945090
|
|
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp)
|
rs876659089
|
|
NM_007194.4(CHEK2):c.505T>G (p.Phe169Val)
|
rs876659653
|
|
NM_007194.4(CHEK2):c.506T>C (p.Phe169Ser)
|
rs1555926890
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.509T>C (p.Val170Ala)
|
|
|
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala)
|
rs786203836
|
|
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu)
|
rs2053942160
|
|
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala)
|
rs1555926862
|
|
NM_007194.4(CHEK2):c.526G>A (p.Gly176Arg)
|
rs876661085
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.52T>G (p.Cys18Gly)
|
rs2054336674
|
|
NM_007194.4(CHEK2):c.531A>G (p.Lys177=)
|
|
|
NM_007194.4(CHEK2):c.532G>C (p.Gly178Arg)
|
rs1457055483
|
|
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu)
|
rs137853009
|
|
NM_007194.4(CHEK2):c.53G>A (p.Cys18Tyr)
|
rs151218932
|
|
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser)
|
rs151218932
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.548T>C (p.Leu183Ser)
|
rs2053939966
|
|
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile)
|
rs369223840
|
|
NM_007194.4(CHEK2):c.55T>A (p.Ser19Thr)
|
rs2146154587
|
|
NM_007194.4(CHEK2):c.567T>C (p.Ile189=)
|
rs1601823046
|
|
NM_007194.4(CHEK2):c.570A>T (p.Ala190=)
|
rs754689169
|
|
NM_007194.4(CHEK2):c.579A>G (p.Leu193=)
|
rs1569157233
|
|
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg)
|
rs786203042
|
|
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys)
|
rs786203042
|
|
NM_007194.4(CHEK2):c.586A>G (p.Asn196Asp)
|
rs1060502693
|
|
NM_007194.4(CHEK2):c.589A>G (p.Lys197Glu)
|
rs2053936071
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.592+11T>G
|
rs1555926700
|
|
NM_007194.4(CHEK2):c.592+12_592+13del
|
rs1555926694
|
|
NM_007194.4(CHEK2):c.592+16T>G
|
rs1555926688
|
|
NM_007194.4(CHEK2):c.592+17A>G
|
rs2053934609
|
|
NM_007194.4(CHEK2):c.592+19G>T
|
rs1569157121
|
|
NM_007194.4(CHEK2):c.592+2T>G
|
|
|
NM_007194.4(CHEK2):c.592+5TAT[2]
|
rs1555926697
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
NM_007194.4(CHEK2):c.593-18T>C
|
rs1569150284
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-20T>G
|
rs1555924584
|
|
NM_007194.4(CHEK2):c.593-20_593-18del
|
rs752590759
|
|
NM_007194.4(CHEK2):c.593-7T>A
|
rs1555924549
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile)
|
rs730881704
|
|
NM_007194.4(CHEK2):c.601T>C (p.Phe201Leu)
|
rs786202416
|
|
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu)
|
rs758529351
|
|
NM_007194.4(CHEK2):c.605T>G (p.Phe202Cys)
|
rs2053696167
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro)
|
rs1569150113
|
|
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser)
|
rs587780187
|
|
NM_007194.4(CHEK2):c.615T>G (p.Thr205=)
|
rs1555924498
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.619GAT[1] (p.Asp208del)
|
rs1385692387
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.630A>G (p.Ser210=)
|
|
|
NM_007194.4(CHEK2):c.638C>T (p.Pro213Leu)
|
rs1569149890
|
|
NM_007194.4(CHEK2):c.642G>A (p.Lys214=)
|
rs1569149867
|
|
NM_007194.4(CHEK2):c.650G>T (p.Arg217Ile)
|
rs1486909310
|
|
NM_007194.4(CHEK2):c.654T>C (p.Asp218=)
|
rs907621837
|
|
NM_007194.4(CHEK2):c.654T>G (p.Asp218Glu)
|
rs907621837
|
|
NM_007194.4(CHEK2):c.655_659del (p.Glu219fs)
|
rs2053691493
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.658T>G (p.Tyr220Asp)
|
|
|
NM_007194.4(CHEK2):c.65A>G (p.His22Arg)
|
rs1601853800
|
|
NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
|
rs786203472
|
|
NM_007194.4(CHEK2):c.673A>G (p.Thr225Ala)
|
rs1555924390
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.67G>A (p.Gly23Ser)
|
rs1569171589
|
|
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys)
|
rs745475247
|
|
NM_007194.4(CHEK2):c.683+15T>G
|
rs1569149564
|
|
NM_007194.4(CHEK2):c.683+17T>C
|
rs2053688522
|
|
NM_007194.4(CHEK2):c.683+1G>C
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.684-10T>C
|
rs1601784458
|
|
NM_007194.4(CHEK2):c.684-11T>G
|
rs1392495288
|
|
NM_007194.4(CHEK2):c.684-14G>C
|
rs1555921411
|
|
NM_007194.4(CHEK2):c.684-16T>C
|
rs1056041546
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-3T>C
|
rs1555921387
|
|
NM_007194.4(CHEK2):c.684-7C>T
|
rs745408471
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
NM_007194.4(CHEK2):c.68G>A (p.Gly23Asp)
|
rs1601853772
|
|
NM_007194.4(CHEK2):c.690C>G (p.Ala230=)
|
rs1569140952
|
|
NM_007194.4(CHEK2):c.695G>A (p.Gly232Glu)
|
rs779322187
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.699G>A (p.Glu233=)
|
rs1555921308
|
|
NM_007194.4(CHEK2):c.705G>A (p.Lys235=)
|
rs1555921297
|
|
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp)
|
rs878854921
|
|
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.716A>T (p.Glu239Val)
|
rs763892124
|
|
NM_007194.4(CHEK2):c.719G>C (p.Arg240Thr)
|
rs1323633806
|
|
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile)
|
rs765136136
|
|
NM_007194.4(CHEK2):c.72C>T (p.Ser24=)
|
rs759679862
|
|
NM_007194.4(CHEK2):c.738A>T (p.Val246=)
|
rs1555921163
|
|
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp)
|
rs1064795978
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
NM_007194.4(CHEK2):c.775G>C (p.Gly259Arg)
|
rs786201923
|
|
NM_007194.4(CHEK2):c.777T>C (p.Gly259=)
|
rs876659828
|
|
NM_007194.4(CHEK2):c.787G>A (p.Glu263Lys)
|
rs730881686
|
|
NM_007194.4(CHEK2):c.788_790dup (p.Glu263dup)
|
rs876660660
|
|
NM_007194.4(CHEK2):c.790G>T (p.Ala264Ser)
|
rs752493299
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.793-12T>C
|
rs1555920271
|
|
NM_007194.4(CHEK2):c.793-12T>G
|
rs1555920271
|
|
NM_007194.4(CHEK2):c.793-13C>T
|
rs1555920274
|
|
NM_007194.4(CHEK2):c.793-17T>G
|
rs778511901
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
NM_007194.4(CHEK2):c.793G>A (p.Asp265Asn)
|
rs1064793689
|
|
NM_007194.4(CHEK2):c.794A>C (p.Asp265Ala)
|
|
|
NM_007194.4(CHEK2):c.802C>A (p.Leu268Ile)
|
rs766462610
|
|
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe)
|
rs766462610
|
|
NM_007194.4(CHEK2):c.805A>G (p.Asn269Asp)
|
rs2053336086
|
|
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro)
|
rs1060502697
|
|
NM_007194.4(CHEK2):c.814A>G (p.Thr272Ala)
|
rs1426981647
|
|
NM_007194.4(CHEK2):c.815C>T (p.Thr272Ile)
|
rs2053334664
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.831G>C (p.Leu277Phe)
|
rs876659698
|
|
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr)
|
rs587782196
|
|
NM_007194.4(CHEK2):c.845A>G (p.His282Arg)
|
rs1555920110
|
|
NM_007194.4(CHEK2):c.846+15_846+16del
|
rs775989721
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.846+6TAT[2]
|
rs1555920076
|
|
NM_007194.4(CHEK2):c.846+8T>C
|
rs1601777172
|
|
NM_007194.4(CHEK2):c.846T>C (p.His282=)
|
rs987815892
|
|
NM_007194.4(CHEK2):c.847-14_847-2del
|
rs1293617484
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-15_847-14insGG
|
rs1555917068
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
NM_007194.4(CHEK2):c.847-2_857del
|
rs2145878627
|
|
NM_007194.4(CHEK2):c.847-30_847-11dup
|
rs760398606
|
|
NM_007194.4(CHEK2):c.847-33_847-14del
|
rs1569128594
|
|
NM_007194.4(CHEK2):c.847-7T>C
|
rs1057520267
|
|
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser)
|
rs1555917036
|
|
NM_007194.4(CHEK2):c.848C>A (p.Pro283His)
|
rs781222802
|
|
NM_007194.4(CHEK2):c.853A>G (p.Ile285Val)
|
rs1555917027
|
|
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val)
|
rs986132746
|
|
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr)
|
rs1555917019
|
|
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met)
|
rs876659184
|
|
NM_007194.4(CHEK2):c.86A>C (p.Gln29Pro)
|
rs876660019
|
|
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs)
|
rs1555932735
|
|
NM_007194.4(CHEK2):c.870del (p.Phe292fs)
|
rs1555916987
|
|
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile)
|
rs2052980010
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.87A>G (p.Gln29=)
|
rs951525447
|
|
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly)
|
rs1555916963
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
NM_007194.4(CHEK2):c.885A>G (p.Glu295=)
|
rs1555916935
|
|
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly)
|
rs777397542
|
|
NM_007194.4(CHEK2):c.887A>T (p.Asp296Val)
|
rs777397542
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser)
|
rs1555932749
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn)
|
rs876659870
|
|
NM_007194.4(CHEK2):c.896T>C (p.Ile299Thr)
|
rs876659870
|
|
NM_007194.4(CHEK2):c.89G>T (p.Gly30Val)
|
|
|
NM_007194.4(CHEK2):c.8G>C (p.Arg3Pro)
|
rs779607427
|
|
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.907T>C (p.Leu303=)
|
rs752359705
|
|
NM_007194.4(CHEK2):c.908+11A>T
|
rs1555916864
|
|
NM_007194.4(CHEK2):c.908+14T>G
|
rs538313507
|
|
NM_007194.4(CHEK2):c.908+16T>C
|
rs1198651411
|
|
NM_007194.4(CHEK2):c.908+17T>G
|
rs2052972175
|
|
NM_007194.4(CHEK2):c.908+18del
|
rs778668907
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+2T>A
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
NM_007194.4(CHEK2):c.909-14C>A
|
|
|
NM_007194.4(CHEK2):c.909-15G>A
|
rs2145845569
|
|
NM_007194.4(CHEK2):c.909-1G>C
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-28_909-20del
|
rs1555915597
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_007194.4(CHEK2):c.909-8T>C
|
rs1569121935
|
|
NM_007194.4(CHEK2):c.913G>C (p.Glu305Gln)
|
|
|
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp)
|
rs587783051
|
|
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu)
|
rs587780192
|
|
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val)
|
rs587780192
|
|
NM_007194.4(CHEK2):c.918G>C (p.Gly306=)
|
rs1057523756
|
|
NM_007194.4(CHEK2):c.924_925delinsAA (p.Leu309Met)
|
rs1569121657
|
|
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe)
|
rs1555932714
|
|
NM_007194.4(CHEK2):c.938T>C (p.Val313Ala)
|
rs1039682955
|
|
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu)
|
rs778573074
|
|
NM_007194.4(CHEK2):c.942G>T (p.Val314=)
|
rs1057520467
|
|
NM_007194.4(CHEK2):c.944G>A (p.Gly315Glu)
|
rs1555915471
|
|
NM_007194.4(CHEK2):c.945G>T (p.Gly315=)
|
rs876659711
|
|
NM_007194.4(CHEK2):c.945dup (p.Asn316fs)
|
rs2052765649
|
|
NM_007194.4(CHEK2):c.948T>A (p.Asn316Lys)
|
rs1569121419
|
|
NM_007194.4(CHEK2):c.953G>T (p.Arg318Leu)
|
rs143611747
|
|
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu)
|
rs587782480
|
|
NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn)
|
rs1237880782
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
NM_007194.4(CHEK2):c.972C>G (p.Cys324Trp)
|
rs1060502712
|
|
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu)
|
rs587780193
|
|
NM_007194.4(CHEK2):c.978C>T (p.Leu326=)
|
rs1057521868
|
|
NM_007194.4(CHEK2):c.985T>A (p.Tyr329Asn)
|
rs866542645
|
|
NM_007194.4(CHEK2):c.992T>C (p.Met331Thr)
|
rs1555915352
|
|
NM_007194.4(CHEK2):c.994C>G (p.Leu332Val)
|
rs1555915348
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
|