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.592+50A>T
|
rs17881298
|
0.00270
|
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.-40G>T
|
rs142541707
|
0.00155
|
NM_007194.4(CHEK2):c.444+24C>T
|
rs121908699
|
0.00150
|
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.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.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.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.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.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.847-17T>C
|
rs199780411
|
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.*2dup
|
rs749257861
|
0.00004
|
NM_007194.4(CHEK2):c.-10dup
|
rs886037743
|
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.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu)
|
rs587780178
|
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.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.-17G>A
|
rs887273410
|
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.1323C>T (p.Thr441=)
|
rs753839004
|
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.909-18C>T
|
rs1009670975
|
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.-11A>G
|
rs554107994
|
0.00002
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
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.1383C>G (p.Asp461Glu)
|
rs1060502702
|
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.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.480A>G (p.Ile160Met)
|
rs575910805
|
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.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.*19G>A
|
rs1057523052
|
0.00001
|
NM_007194.4(CHEK2):c.*6G>A
|
rs775315910
|
0.00001
|
NM_007194.4(CHEK2):c.-20G>C
|
rs566344661
|
0.00001
|
NM_007194.4(CHEK2):c.-34A>T
|
rs121908696
|
0.00001
|
NM_007194.4(CHEK2):c.-6-20T>C
|
rs1057523349
|
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.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
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.1083C>T (p.Asp361=)
|
rs572668197
|
0.00001
|
NM_007194.4(CHEK2):c.1095+8A>G
|
rs1057522814
|
0.00001
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile)
|
rs876658682
|
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.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His)
|
rs587778194
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1375+26T>C
|
rs527418829
|
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.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.1461+18C>T
|
rs1260246390
|
0.00001
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=)
|
rs898342452
|
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.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=)
|
rs202104749
|
0.00001
|
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys)
|
rs753204096
|
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.173G>C (p.Gly58Ala)
|
rs1569170717
|
0.00001
|
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr)
|
rs886041171
|
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.307T>C (p.Phe103Leu)
|
rs587781669
|
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.381A>G (p.Glu127=)
|
rs199929178
|
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.444+6T>C
|
rs1060502720
|
0.00001
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
NM_007194.4(CHEK2):c.528G>C (p.Gly176=)
|
rs587780889
|
0.00001
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
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.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
NM_007194.4(CHEK2):c.714C>T (p.Phe238=)
|
rs864622322
|
0.00001
|
NM_007194.4(CHEK2):c.726A>G (p.Thr242=)
|
rs150150389
|
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.792+17G>A
|
rs1057523609
|
0.00001
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
NM_007194.4(CHEK2):c.846+12T>C
|
rs1057524077
|
0.00001
|
NM_007194.4(CHEK2):c.847-7T>G
|
rs1057520267
|
0.00001
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
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.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
NM_007194.4(CHEK2):c.990G>A (p.Gln330=)
|
rs9625537
|
0.00001
|
NM_007194.4(CHEK2):c.996C>T (p.Leu332=)
|
rs1053994833
|
0.00001
|
NC_000022.10:g.(29083975_29085122)_(29085204_29090019)del
|
|
|
NC_000022.10:g.(29083975_29085122)_(29085204_29090019)dup
|
|
|
NC_000022.10:g.(?_29083730)_(29085204_29090019)dup
|
|
|
NC_000022.10:g.(?_29083730)_(29121356_29130390)dup
|
|
|
NM_007194.4(CHEK2):c.*16C>T
|
rs1057522648
|
|
NM_007194.4(CHEK2):c.-26G>C
|
rs1446969002
|
|
NM_007194.4(CHEK2):c.-27G>A
|
rs1057522353
|
|
NM_007194.4(CHEK2):c.-28C>A
|
rs1057520952
|
|
NM_007194.4(CHEK2):c.-28C>T
|
rs1057520952
|
|
NM_007194.4(CHEK2):c.-32T>C
|
rs536566373
|
|
NM_007194.4(CHEK2):c.-36AG[1]
|
rs1555936097
|
|
NM_007194.4(CHEK2):c.-40G>C
|
rs142541707
|
|
NM_007194.4(CHEK2):c.-6-29C>G
|
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1008+15C>G
|
rs1555915284
|
|
NM_007194.4(CHEK2):c.1008+25G>T
|
|
|
NM_007194.4(CHEK2):c.1009-4G>A
|
rs1057521735
|
|
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg)
|
rs374660293
|
|
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg)
|
rs1555914365
|
|
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys)
|
rs786203185
|
|
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr)
|
rs1361935182
|
|
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser)
|
rs764181318
|
|
NM_007194.4(CHEK2):c.105C>T (p.Ser35=)
|
rs1057521541
|
|
NM_007194.4(CHEK2):c.108G>A (p.Gln36=)
|
rs876660021
|
|
NM_007194.4(CHEK2):c.1096-14del
|
|
|
NM_007194.4(CHEK2):c.1096-47del
|
|
|
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly)
|
rs1555913929
|
|
NM_007194.4(CHEK2):c.1110G>A (p.Gly370=)
|
rs1555913920
|
|
NM_007194.4(CHEK2):c.1113C>T (p.His371=)
|
rs876659094
|
|
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr)
|
rs1555913901
|
|
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=)
|
rs79357544
|
|
NM_007194.4(CHEK2):c.1116C>T (p.Ser372=)
|
rs79357544
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
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.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1209G>T (p.Gly403=)
|
rs1350419049
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)
|
rs121908694
|
|
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del)
|
rs760118917
|
|
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser)
|
rs1601721712
|
|
NM_007194.4(CHEK2):c.1259+14T>C
|
rs780245762
|
|
NM_007194.4(CHEK2):c.1259+20C>T
|
rs777379343
|
|
NM_007194.4(CHEK2):c.1259+7A>G
|
rs1057523752
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr)
|
rs1601719955
|
|
NM_007194.4(CHEK2):c.1299A>G (p.Gln433=)
|
rs1057523319
|
|
NM_007194.4(CHEK2):c.129C>T (p.Thr43=)
|
rs786202779
|
|
NM_007194.4(CHEK2):c.1302G>A (p.Val434=)
|
rs1060504693
|
|
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg)
|
rs764449869
|
|
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=)
|
rs1057520523
|
|
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=)
|
rs1057523229
|
|
NM_007194.4(CHEK2):c.1375+10T>C
|
rs2052511807
|
|
NM_007194.4(CHEK2):c.1375+15G>T
|
rs1057521502
|
|
NM_007194.4(CHEK2):c.1375+8T>A
|
rs1057522436
|
|
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser)
|
rs540635787
|
|
NM_007194.4(CHEK2):c.1428G>C (p.Thr476=)
|
rs1060504697
|
|
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr)
|
rs786203490
|
|
NM_007194.4(CHEK2):c.1448A>T (p.His483Leu)
|
|
|
NM_007194.4(CHEK2):c.1461+12A>G
|
rs886057328
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1461+8T>C
|
rs1057521960
|
|
NM_007194.4(CHEK2):c.1462-18T>C
|
rs1555912108
|
|
NM_007194.4(CHEK2):c.1462-20T>G
|
rs747767986
|
|
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg)
|
rs1569171013
|
|
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val)
|
rs549945536
|
|
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=)
|
rs1057521300
|
|
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.1521T>C (p.Ala507=)
|
rs1057522770
|
|
NM_007194.4(CHEK2):c.1542+16A>G
|
rs749728970
|
|
NM_007194.4(CHEK2):c.1542+7G>A
|
rs4035547
|
|
NM_007194.4(CHEK2):c.1543-12_1543-3del
|
rs1555911649
|
|
NM_007194.4(CHEK2):c.1543-37T>G
|
|
|
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)
|
rs587780180
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=)
|
rs786201796
|
|
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln)
|
rs587781710
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=)
|
rs1057521299
|
|
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=)
|
rs773670297
|
|
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe)
|
rs876659424
|
|
NM_007194.4(CHEK2):c.18T>C (p.Asp6=)
|
rs1555932937
|
|
NM_007194.4(CHEK2):c.213C>G (p.Leu71=)
|
rs1057524667
|
|
NM_007194.4(CHEK2):c.222T>C (p.Ile74=)
|
rs876659629
|
|
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.254C>A (p.Pro85His)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.274C>G (p.Pro92Ala)
|
|
|
NM_007194.4(CHEK2):c.27T>C (p.Ala9=)
|
rs876660497
|
|
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro)
|
rs750596499
|
|
NM_007194.4(CHEK2):c.319+7C>T
|
rs1057522753
|
|
NM_007194.4(CHEK2):c.319+8C>A
|
rs776443322
|
|
NM_007194.4(CHEK2):c.320-5T>C
|
rs121908700
|
|
NM_007194.4(CHEK2):c.320-7A>G
|
rs1555927424
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
NM_007194.4(CHEK2):c.346G>C (p.Gly116Arg)
|
rs2146071181
|
|
NM_007194.4(CHEK2):c.388C>T (p.Leu130=)
|
rs1057522274
|
|
NM_007194.4(CHEK2):c.390G>A (p.Leu130=)
|
rs1057522435
|
|
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His)
|
rs1555927222
|
|
NM_007194.4(CHEK2):c.412A>C (p.Thr138Pro)
|
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
NM_007194.4(CHEK2):c.444+16C>T
|
rs1057522343
|
|
NM_007194.4(CHEK2):c.444+18A>G
|
rs753667121
|
|
NM_007194.4(CHEK2):c.445-26C>T
|
|
|
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.479T>C (p.Ile160Thr)
|
rs72552323
|
|
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.504C>T (p.Thr168=)
|
rs1057521221
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.54T>C (p.Cys18=)
|
rs1057523962
|
|
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr)
|
rs1555926784
|
|
NM_007194.4(CHEK2):c.582C>T (p.Ser194=)
|
rs761126328
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.592+13T>C
|
rs1057521311
|
|
NM_007194.4(CHEK2):c.592+39dup
|
|
|
NM_007194.4(CHEK2):c.592+81del
|
rs746878232
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
NM_007194.4(CHEK2):c.593-16C>T
|
rs1057523924
|
|
NM_007194.4(CHEK2):c.593-20_593-18del
|
rs752590759
|
|
NM_007194.4(CHEK2):c.593-9C>G
|
rs1057517597
|
|
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val)
|
rs786202416
|
|
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu)
|
rs587781563
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala)
|
rs587780187
|
|
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile)
|
rs759734429
|
|
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.654T>C (p.Asp218=)
|
rs907621837
|
|
NM_007194.4(CHEK2):c.684-4C>A
|
rs121908695
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr)
|
rs1060502719
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val)
|
rs876658690
|
|
NM_007194.4(CHEK2):c.776G>A (p.Gly259Asp)
|
|
|
NM_007194.4(CHEK2):c.777T>C (p.Gly259=)
|
rs876659828
|
|
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn)
|
rs878854923
|
|
NM_007194.4(CHEK2):c.78C>T (p.Thr26=)
|
rs876658717
|
|
NM_007194.4(CHEK2):c.792+18G>C
|
rs1385038498
|
|
NM_007194.4(CHEK2):c.792+19C>G
|
rs1057522960
|
|
NM_007194.4(CHEK2):c.792+27C>T
|
|
|
NM_007194.4(CHEK2):c.792+39C>T
|
|
|
NM_007194.4(CHEK2):c.793-33dup
|
|
|
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu)
|
rs786203778
|
|
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.846+12_846+16del
|
rs1064796169
|
|
NM_007194.4(CHEK2):c.846+14T>C
|
|
|
NM_007194.4(CHEK2):c.846+26T>G
|
|
|
NM_007194.4(CHEK2):c.846+35T>C
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.846+9del
|
rs1555920086
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-5C>G
|
rs1555917045
|
|
NM_007194.4(CHEK2):c.873T>C (p.Phe291=)
|
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)
|
rs779607427
|
|
NM_007194.4(CHEK2):c.907T>C (p.Leu303=)
|
rs752359705
|
|
NM_007194.4(CHEK2):c.908+14T>G
|
rs538313507
|
|
NM_007194.4(CHEK2):c.908+18T>C
|
rs755416802
|
|
NM_007194.4(CHEK2):c.908+19A>G
|
rs759973493
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
NM_007194.4(CHEK2):c.908+7A>T
|
rs2052973187
|
|
NM_007194.4(CHEK2):c.909-19C>T
|
rs1555915594
|
|
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp)
|
rs587783051
|
|
NM_007194.4(CHEK2):c.918G>C (p.Gly306=)
|
rs1057523756
|
|
NM_007194.4(CHEK2):c.925C>T (p.Leu309=)
|
rs786202521
|
|
NM_007194.4(CHEK2):c.942G>A (p.Val314=)
|
rs1057520467
|
|
NM_007194.4(CHEK2):c.946A>T (p.Asn316Tyr)
|
|
|
NM_007194.4(CHEK2):c.955C>T (p.Leu319=)
|
rs1057524600
|
|
NM_007194.4(CHEK2):c.978C>T (p.Leu326=)
|
rs1057521868
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
|