NM_007194.4(CHEK2):c.319+4206T>C
|
rs12627843
|
0.99991
|
NM_007194.4(CHEK2):c.1095+250T>C
|
rs5752771
|
0.99947
|
NM_007194.4(CHEK2):c.319+4177C>T
|
rs12171198
|
0.99748
|
NM_007194.4(CHEK2):c.1009-264T>C
|
rs4820790
|
0.98450
|
NC_000022.11:g.28741956G>C
|
rs2236142
|
0.67002
|
NM_007194.4(CHEK2):c.684-224T>C
|
rs5752776
|
0.63427
|
NM_007194.4(CHEK2):c.1375+78C>G
|
rs5762749
|
0.59838
|
NM_007194.4(CHEK2):c.1376-258C>T
|
rs5762747
|
0.39026
|
NM_007194.4(CHEK2):c.847-200A>G
|
rs2267130
|
0.35241
|
NM_007194.4(CHEK2):c.319+91G>A
|
rs1033667
|
0.30095
|
NM_007194.4(CHEK2):c.1375+347T>G
|
rs12165489
|
0.12169
|
NM_007194.4(CHEK2):c.-7+2398dup
|
rs113960351
|
0.11014
|
NC_000022.11:g.28741882C>T
|
rs2236141
|
0.09783
|
NM_007194.4(CHEK2):c.592+168T>C
|
rs3788408
|
0.08398
|
NM_007194.4(CHEK2):c.-7+2214C>T
|
rs5997390
|
0.08338
|
NM_007194.4(CHEK2):c.1096-320G>A
|
rs17507045
|
0.07711
|
NM_007194.4(CHEK2):c.1095+169G>A
|
rs17507066
|
0.06878
|
NM_007194.4(CHEK2):c.1375+225C>T
|
rs5762748
|
0.06152
|
NM_007194.4(CHEK2):c.319+3621G>A
|
rs112976408
|
0.05307
|
NM_007194.4(CHEK2):c.793-127T>C
|
rs9625541
|
0.04460
|
NM_007194.4(CHEK2):c.684-107T>G
|
rs16986640
|
0.04453
|
NM_007194.4(CHEK2):c.1543-411C>T
|
rs139467994
|
0.04205
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_007194.4(CHEK2):c.792+325C>G
|
rs56924042
|
0.02681
|
NM_007194.4(CHEK2):c.1095+163G>A
|
rs117188004
|
0.02399
|
NM_007194.4(CHEK2):c.1543-192A>G
|
rs17880568
|
0.02143
|
NM_007194.4(CHEK2):c.-7+286A>T
|
rs17879734
|
0.02131
|
NM_007194.4(CHEK2):c.793-302T>A
|
rs17881138
|
0.02002
|
NM_007194.4(CHEK2):c.1462-198C>T
|
rs17883639
|
0.01796
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_007194.4(CHEK2):c.593-79T>C
|
rs56109140
|
0.01169
|
NM_007194.4(CHEK2):c.320-313C>T
|
rs17886564
|
0.01087
|
NM_007194.4(CHEK2):c.-6-190C>G
|
rs78988069
|
0.00906
|
NM_007194.4(CHEK2):c.319+3774C>T
|
rs189426023
|
0.00883
|
NM_007194.4(CHEK2):c.319+179A>G
|
rs144682905
|
0.00818
|
NM_007194.4(CHEK2):c.592+279G>C
|
rs142341111
|
0.00817
|
NM_007194.4(CHEK2):c.593-287G>T
|
rs147042282
|
0.00815
|
NM_007194.4(CHEK2):c.1461+345G>A
|
rs144770665
|
0.00659
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_007194.4(CHEK2):c.319+4082_319+4086del
|
rs544310054
|
0.00501
|
NM_007194.4(CHEK2):c.-7+2358G>A
|
rs188521523
|
0.00482
|
NM_007194.4(CHEK2):c.-7+2237A>G
|
rs142648656
|
0.00479
|
NM_007194.4(CHEK2):c.319+4077T>C
|
rs540334065
|
0.00435
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_007194.4(CHEK2):c.319+4338C>T
|
rs180978510
|
0.00376
|
NM_007194.4(CHEK2):c.846+138C>T
|
rs372969631
|
0.00326
|
NM_007194.4(CHEK2):c.592+50A>T
|
rs17881298
|
0.00270
|
NM_007194.4(CHEK2):c.684-432G>A
|
rs17879919
|
0.00232
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_007194.4(CHEK2):c.1096-129A>T
|
rs574744424
|
0.00192
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_007194.4(CHEK2):c.684-74G>C
|
rs121908712
|
0.00183
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
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.793-11G>A
|
rs5997387
|
0.00054
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_007194.4(CHEK2):c.319+3966G>A
|
rs137926355
|
0.00040
|
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.1008+71A>G
|
rs121908713
|
0.00020
|
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.*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.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.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
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.1008+8A>G
|
rs139986197
|
0.00004
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
NM_007194.4(CHEK2):c.1065G>A (p.Leu355=)
|
rs938389349
|
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.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.910A>G (p.Met304Val)
|
rs769436449
|
0.00004
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
NM_007194.4(CHEK2):c.-8C>T
|
rs539227672
|
0.00003
|
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.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.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=)
|
rs781593101
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
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.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.*5C>T
|
rs587781367
|
0.00002
|
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.1277C>A (p.Pro426His)
|
rs769933461
|
0.00002
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)
|
rs876659250
|
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.24G>T (p.Glu8Asp)
|
rs780920036
|
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.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.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
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.-10C>T
|
rs730881693
|
0.00001
|
NM_007194.4(CHEK2):c.-34A>T
|
rs121908696
|
0.00001
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
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.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.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.1084T>C (p.Cys362Arg)
|
rs1064793339
|
0.00001
|
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=)
|
rs761681864
|
0.00001
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg)
|
rs587782817
|
0.00001
|
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr)
|
rs145324174
|
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.1186C>G (p.Leu396Val)
|
rs886041172
|
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.1233G>C (p.Trp411Cys)
|
rs1064796572
|
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.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1291A>G (p.Arg431Gly)
|
rs1064793470
|
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.1374A>G (p.Lys458=)
|
rs776093527
|
0.00001
|
NM_007194.4(CHEK2):c.1375+26T>C
|
rs527418829
|
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.1391A>G (p.Lys464Arg)
|
rs529571124
|
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.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.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=)
|
rs762041905
|
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.1552A>G (p.Ser518Gly)
|
rs753560465
|
0.00001
|
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=)
|
rs202104749
|
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.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg)
|
rs864622684
|
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.232C>T (p.Gln78Ter)
|
rs1555932341
|
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.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.368A>G (p.Tyr123Cys)
|
rs876658557
|
0.00001
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
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.445-15T>A
|
rs1064793595
|
0.00001
|
NM_007194.4(CHEK2):c.445-4T>C
|
rs1064795487
|
0.00001
|
NM_007194.4(CHEK2):c.446A>G (p.Glu149Gly)
|
rs786203794
|
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+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
NM_007194.4(CHEK2):c.593-9C>T
|
rs1057517597
|
0.00001
|
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg)
|
rs753257724
|
0.00001
|
NM_007194.4(CHEK2):c.5C>T (p.Ser2Phe)
|
rs1417811260
|
0.00001
|
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
NM_007194.4(CHEK2):c.684-4C>G
|
rs121908695
|
0.00001
|
NM_007194.4(CHEK2):c.684-7_694del
|
rs1555921323
|
0.00001
|
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg)
|
rs587782419
|
0.00001
|
NM_007194.4(CHEK2):c.714C>T (p.Phe238=)
|
rs864622322
|
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+10A>G
|
rs753836819
|
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+5G>A
|
rs764394796
|
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.909G>C (p.Leu303Phe)
|
rs786202256
|
0.00001
|
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
NM_007194.4(CHEK2):c.912G>A (p.Met304Ile)
|
rs1156943614
|
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
|
GRCh37/hg19 22q12.1(chr22:29083885-29092975)x1
|
|
|
GRCh37/hg19 22q12.1(chr22:29092889-29095925)x1
|
|
|
GRCh37/hg19 22q12.1(chr22:29092889-29096019)x1
|
|
|
GRCh37/hg19 22q12.1(chr22:29099493-29099554)x1
|
|
|
NM_007194.3(CHEK2):c.1462-?_1542+?del
|
|
|
NM_007194.3:c.-72_1632del
|
|
|
NM_007194.4(CHEK2):c.-114A>G
|
rs121908697
|
|
NM_007194.4(CHEK2):c.-3G>C
|
rs876659027
|
|
NM_007194.4(CHEK2):c.-6-111dup
|
rs201340887
|
|
NM_007194.4(CHEK2):c.-6-12T>A
|
rs1064793997
|
|
NM_007194.4(CHEK2):c.-6-2A>C
|
|
|
NM_007194.4(CHEK2):c.-6-3287A>C
|
|
|
NM_007194.4(CHEK2):c.-6-99del
|
rs201340887
|
|
NM_007194.4(CHEK2):c.-6-9C>G
|
rs565169061
|
|
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.1001C>A (p.Ala334Asp)
|
rs1555915316
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter)
|
rs2145841361
|
|
NM_007194.4(CHEK2):c.1007del (p.Gln336fs)
|
rs1569120831
|
|
NM_007194.4(CHEK2):c.1008+191del
|
rs17885956
|
|
NM_007194.4(CHEK2):c.1009-2A>G
|
rs766158073
|
|
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.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser)
|
rs863224746
|
|
NM_007194.4(CHEK2):c.1033C>G (p.His345Asp)
|
rs864622537
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu)
|
rs730881689
|
|
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala)
|
rs876659406
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe)
|
rs765425451
|
|
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)
|
rs878854909
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
NM_007194.4(CHEK2):c.1085_1088del (p.Cys362fs)
|
|
|
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)
|
rs1064793566
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-394G>C
|
rs17880511
|
|
NM_007194.4(CHEK2):c.1096del (p.Ile366fs)
|
rs1555913941
|
|
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn)
|
rs786202147
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
NM_007194.4(CHEK2):c.1103A>T (p.Asp368Val)
|
|
|
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu)
|
rs587780166
|
|
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys)
|
rs147877722
|
|
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe)
|
rs147877722
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
NM_007194.4(CHEK2):c.1132A>T (p.Thr378Ser)
|
rs1601723329
|
|
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs)
|
rs1601723175
|
|
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys)
|
rs267606211
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu)
|
rs375130261
|
|
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)
|
rs1064794965
|
|
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)
|
rs202089930
|
|
NM_007194.4(CHEK2):c.114A>G (p.Ile38Met)
|
rs876661249
|
|
NM_007194.4(CHEK2):c.1154G>T (p.Cys385Phe)
|
rs145324174
|
|
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro)
|
rs1060502696
|
|
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile)
|
rs587780168
|
|
NM_007194.4(CHEK2):c.1163C>A (p.Pro388His)
|
rs1601722891
|
|
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile)
|
rs2145804544
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)
|
rs886039631
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly)
|
rs527878975
|
|
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs)
|
rs2145803112
|
|
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val)
|
rs1555913720
|
|
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val)
|
rs1435731482
|
|
NM_007194.4(CHEK2):c.1209dup (p.Tyr404fs)
|
rs886041455
|
|
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.1219G>C (p.Ala407Pro)
|
|
|
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn)
|
rs766191039
|
|
NM_007194.4(CHEK2):c.1225G>T (p.Asp409Tyr)
|
rs766191039
|
|
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.1235G>A (p.Ser412Asn)
|
rs1555913662
|
|
NM_007194.4(CHEK2):c.1235G>C (p.Ser412Thr)
|
rs1555913662
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
NM_007194.4(CHEK2):c.1241_1243del (p.Gly414del)
|
rs2145801539
|
|
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.1252T>C (p.Phe418Leu)
|
rs1064793737
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr)
|
rs1601721712
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+28A>G
|
rs121908708
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1260-20CT[3]
|
rs760037989
|
|
NM_007194.4(CHEK2):c.1260-4T>G
|
rs1064793337
|
|
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.1267G>T (p.Gly423Trp)
|
rs730881691
|
|
NM_007194.4(CHEK2):c.1268G>A (p.Gly423Glu)
|
rs1064793300
|
|
NM_007194.4(CHEK2):c.126T>A (p.Ser42=)
|
rs1601853112
|
|
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys)
|
rs1064795041
|
|
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met)
|
rs1555913504
|
|
NM_007194.4(CHEK2):c.1293G>T (p.Arg431Ser)
|
rs587780175
|
|
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg)
|
rs878854914
|
|
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly)
|
rs1569112074
|
|
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.1318A>T (p.Ile440Phe)
|
rs587780176
|
|
NM_007194.4(CHEK2):c.1324A>G (p.Ser442Gly)
|
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys)
|
rs876660373
|
|
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val)
|
rs750012749
|
|
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr)
|
rs1555913437
|
|
NM_007194.4(CHEK2):c.1349_1350del (p.Glu450fs)
|
rs1601719250
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.135G>A (p.Thr45=)
|
rs745423387
|
|
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs)
|
rs2145792978
|
|
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
|
|
|
NM_007194.4(CHEK2):c.1375+16G>A
|
rs776700371
|
|
NM_007194.4(CHEK2):c.1376-376C>G
|
rs6005837
|
|
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val)
|
rs876659512
|
|
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)
|
rs876658456
|
|
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met)
|
rs730881692
|
|
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala)
|
rs763344790
|
|
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His)
|
rs876658449
|
|
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr)
|
rs876658449
|
|
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu)
|
rs1060502713
|
|
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg)
|
rs1064793511
|
|
NM_007194.4(CHEK2):c.1417G>T (p.Ala473Ser)
|
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser)
|
rs540635787
|
|
NM_007194.4(CHEK2):c.1425dup (p.Thr476fs)
|
rs2145785282
|
|
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile)
|
rs762488591
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val)
|
rs786203303
|
|
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys)
|
rs1555913090
|
|
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr)
|
rs786203490
|
|
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln)
|
rs1555913081
|
|
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg)
|
rs1601715793
|
|
NM_007194.4(CHEK2):c.1461+163dup
|
rs556335113
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1461+6T>C
|
rs1064795915
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.1462-97_1462-96insC
|
rs2145752240
|
|
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe)
|
rs730881694
|
|
NM_007194.4(CHEK2):c.1481del (p.Lys494fs)
|
rs2052247122
|
|
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)
|
rs767043399
|
|
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val)
|
rs549945536
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
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.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
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.1527C>T (p.Pro509=)
|
rs1346924016
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1542G>C (p.Gln514His)
|
rs747797219
|
|
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His)
|
rs747797219
|
|
NM_007194.4(CHEK2):c.1543-11_1543-2del
|
rs2145739661
|
|
NM_007194.4(CHEK2):c.1543-168G>A
|
rs17881275
|
|
NM_007194.4(CHEK2):c.1543-31del
|
rs121908709
|
|
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.1562G>C (p.Arg521Pro)
|
|
|
NM_007194.4(CHEK2):c.1563del (p.Arg523fs)
|
rs786202339
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter)
|
rs138040612
|
|
NM_007194.4(CHEK2):c.1585G>A (p.Gly529Ser)
|
|
|
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.1596del (p.Thr533fs)
|
rs587781519
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val)
|
rs1064795821
|
|
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met)
|
rs1064794950
|
|
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser)
|
rs767414081
|
|
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=)
|
rs1194893297
|
|
NM_007194.4(CHEK2):c.171T>C (p.Ser57=)
|
rs1555932401
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
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.195A>C (p.Thr65=)
|
rs1411341011
|
|
NM_007194.4(CHEK2):c.195A>G (p.Thr65=)
|
rs1411341011
|
|
NM_007194.4(CHEK2):c.196G>A (p.Val66Met)
|
rs730881696
|
|
NM_007194.4(CHEK2):c.204T>C (p.Thr68=)
|
rs1601852195
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg)
|
rs876661109
|
|
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter)
|
rs878854917
|
|
NM_007194.4(CHEK2):c.208del (p.Glu70fs)
|
rs2146147510
|
|
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys)
|
rs1601852018
|
|
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.239C>G (p.Pro80Arg)
|
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.256G>A (p.Glu86Lys)
|
rs551930027
|
|
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del)
|
rs1064793085
|
|
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser)
|
rs777588170
|
|
NM_007194.4(CHEK2):c.276_303delinsTGGCCCTTCA (p.Trp93_Asp101delinsGlyProSer)
|
rs2146143883
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg)
|
rs730881697
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser)
|
rs786203889
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter)
|
rs2054312626
|
|
NM_007194.4(CHEK2):c.293C>A (p.Ala98Asp)
|
rs1601851270
|
|
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val)
|
rs1601851270
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
NM_007194.4(CHEK2):c.313A>C (p.Asn105His)
|
rs1010061908
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+3674_319+3676dup
|
rs561193294
|
|
NM_007194.4(CHEK2):c.319+39dup
|
rs3841692
|
|
NM_007194.4(CHEK2):c.319+4038_319+4043del
|
rs200932714
|
|
NM_007194.4(CHEK2):c.319+4426=
|
rs7510706
|
|
NM_007194.4(CHEK2):c.319+5G>T
|
rs730881698
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
NM_007194.4(CHEK2):c.326T>A (p.Val109Glu)
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly)
|
rs1555927328
|
|
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.371G>T (p.Cys124Phe)
|
rs754768271
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
NM_007194.4(CHEK2):c.374T>G (p.Phe125Cys)
|
rs1064794677
|
|
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly)
|
rs864622541
|
|
NM_007194.4(CHEK2):c.38A>G (p.His13Arg)
|
rs1064793324
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)
|
rs1569158640
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
NM_007194.4(CHEK2):c.411A>C (p.Arg137=)
|
rs1060504695
|
|
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp)
|
rs730881703
|
|
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys)
|
rs587780182
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn)
|
rs768234137
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.422del (p.Lys141fs)
|
rs1555927165
|
|
NM_007194.4(CHEK2):c.423del (p.Lys142fs)
|
rs2053957486
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.432dup (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.433C>A (p.Arg145=)
|
rs137853007
|
|
NM_007194.4(CHEK2):c.438T>C (p.Ile146=)
|
rs1601824974
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.444+5G>C
|
rs189961251
|
|
NM_007194.4(CHEK2):c.445-6T>G
|
rs2146062425
|
|
NM_007194.4(CHEK2):c.445-9C>G
|
rs1064794870
|
|
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu)
|
rs1359910629
|
|
NM_007194.4(CHEK2):c.457A>G (p.Lys153Glu)
|
rs1555927017
|
|
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg)
|
rs730881682
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg)
|
rs1426424086
|
|
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser)
|
rs17879961
|
|
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.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
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.486_488del (p.His163del)
|
rs1064794964
|
|
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp)
|
rs876660846
|
|
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp)
|
rs876659089
|
|
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu)
|
rs876659653
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
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.524dup (p.Gly176fs)
|
rs587780184
|
|
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg)
|
rs876661085
|
|
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)
|
rs876658857
|
|
NM_007194.4(CHEK2):c.541C>G (p.Arg181Gly)
|
rs137853010
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.544_551dup (p.Asn184_Asn185insLeuTer)
|
|
|
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr)
|
rs1555926784
|
|
NM_007194.4(CHEK2):c.565A>T (p.Ile189Phe)
|
|
|
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.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.592+2T>C
|
rs1601822717
|
|
NM_007194.4(CHEK2):c.592+3_592+4del
|
rs1064794120
|
|
NM_007194.4(CHEK2):c.592+5TAT[2]
|
rs1555926697
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.593-6_593-3del
|
rs2053697275
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile)
|
rs730881704
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser)
|
rs587780187
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.619G>T (p.Asp207Tyr)
|
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.646T>G (p.Leu216Val)
|
rs2146005941
|
|
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr)
|
rs1601853823
|
|
NM_007194.4(CHEK2):c.655G>C (p.Glu219Gln)
|
rs1601805632
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His)
|
rs1555924429
|
|
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys)
|
rs1060502690
|
|
NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
|
rs786203472
|
|
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys)
|
rs775134484
|
|
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
|
|
|
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro)
|
rs1296957097
|
|
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg)
|
rs878854920
|
|
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu)
|
rs2053689692
|
|
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly)
|
rs745475247
|
|
NM_007194.4(CHEK2):c.683+1G>C
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+4A>G
|
rs1064795509
|
|
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn)
|
rs1601805361
|
|
NM_007194.4(CHEK2):c.684-100_684-78dup
|
rs17881244
|
|
NM_007194.4(CHEK2):c.684-3del
|
rs1569141052
|
|
NM_007194.4(CHEK2):c.684-7C>T
|
rs745408471
|
|
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser)
|
rs1064794948
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val)
|
rs730881685
|
|
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly)
|
rs1601783933
|
|
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp)
|
rs878854921
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile)
|
rs765136136
|
|
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly)
|
rs141776984
|
|
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr)
|
rs587778193
|
|
NM_007194.4(CHEK2):c.735_742dup (p.Ile248delinsLysTer)
|
rs1555921143
|
|
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile)
|
rs748504161
|
|
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.752T>C (p.Ile251Thr)
|
rs2053410234
|
|
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
NM_007194.4(CHEK2):c.765G>T (p.Lys255Asn)
|
rs750596640
|
|
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val)
|
rs1060502717
|
|
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs)
|
rs2146153237
|
|
NM_007194.4(CHEK2):c.791C>T (p.Ala264Val)
|
rs765216307
|
|
NM_007194.4(CHEK2):c.792+240dup
|
rs17880165
|
|
NM_007194.4(CHEK2):c.792+7A>T
|
rs1601782720
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-9_793-8del
|
rs1480956379
|
|
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe)
|
rs766462610
|
|
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)
|
rs749963436
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.830T>G (p.Leu277Trp)
|
rs1555920150
|
|
NM_007194.4(CHEK2):c.836del (p.Lys279fs)
|
rs1555920142
|
|
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr)
|
rs587782196
|
|
NM_007194.4(CHEK2):c.845_846+36dup
|
rs1064794357
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-12C>G
|
rs769724628
|
|
NM_007194.4(CHEK2):c.847-30_847-11dup
|
rs760398606
|
|
NM_007194.4(CHEK2):c.847-5C>G
|
rs1555917045
|
|
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser)
|
rs1555917036
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val)
|
rs986132746
|
|
NM_007194.4(CHEK2):c.856A>T (p.Ile286Phe)
|
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.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe)
|
rs1341939689
|
|
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala)
|
rs932236548
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
NM_007194.4(CHEK2):c.886G>C (p.Asp296His)
|
rs876659553
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
NM_007194.4(CHEK2):c.893A>T (p.Tyr298Phe)
|
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser)
|
rs876659870
|
|
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)
|
rs779607427
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
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+18del
|
rs778668907
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+5G>C
|
rs1064796016
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
|
rs1233699096
|
|
NM_007194.4(CHEK2):c.909-1G>T
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-292dup
|
rs1188199517
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_007194.4(CHEK2):c.909-8T>C
|
rs1569121935
|
|
NM_007194.4(CHEK2):c.916G>A (p.Gly306Arg)
|
rs587783051
|
|
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.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.931G>C (p.Asp311His)
|
rs587782347
|
|
NM_007194.4(CHEK2):c.936dup (p.Val313fs)
|
rs1555915491
|
|
NM_007194.4(CHEK2):c.937G>C (p.Val313Leu)
|
|
|
NM_007194.4(CHEK2):c.940G>A (p.Val314Met)
|
|
|
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg)
|
rs1569121455
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu)
|
rs587782480
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
NM_007194.4(CHEK2):c.973A>C (p.Lys325Gln)
|
rs587780193
|
|
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu)
|
rs587780193
|
|
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser)
|
rs1555915377
|
|