ClinVar Miner

List of variants in gene CHEK2 reported by Color

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Gene type:
ClinVar version:
Total variants: 533
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HGVS dbSNP
NM_007194.4(CHEK2):c.*16C>T rs1057522648
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*2dup rs749257861
NM_007194.4(CHEK2):c.*6G>A rs775315910
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-3G>C rs876659027
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-6-8T>G rs1555932995
NM_007194.4(CHEK2):c.-6G>A rs376995740
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.1008+13C>T rs193264230
NM_007194.4(CHEK2):c.1008+15C>G rs1555915284
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1008+8A>G rs139986197
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715
NM_007194.4(CHEK2):c.1009-14G>C rs1172442364
NM_007194.4(CHEK2):c.1009-16C>A rs751749563
NM_007194.4(CHEK2):c.1009-20A>G rs946179247
NM_007194.4(CHEK2):c.1009-7T>G rs763174055
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) rs374660293
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) rs773846607
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val) rs1555914358
NM_007194.4(CHEK2):c.1035C>T (p.His345=) rs756520206
NM_007194.4(CHEK2):c.1036C>G (p.Arg346Gly) rs201206424
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.104C>A (p.Ser35Tyr) rs786203185
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe) rs786203185
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln) rs1555914308
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268
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.1067C>T (p.Ser356Leu) rs121908703
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe) rs765425451
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly) rs760449049
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) rs199859140
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) rs572668197
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) rs761681864
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198
NM_007194.4(CHEK2):c.1095+19G>A rs200020484
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1095+8A>G rs1057522814
NM_007194.4(CHEK2):c.1096-10T>C rs1555913946
NM_007194.4(CHEK2):c.1096-16T>C rs1377212608
NM_007194.4(CHEK2):c.1096-4T>C rs587782840
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.110G>A (p.Gly37Asp) rs764750609
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1113C>T (p.His371=) rs876659094
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
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>A (p.Thr387Asn) rs587780168
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile) rs587780168
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg) rs730881690
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp) rs786202164
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp) rs527878975
NM_007194.4(CHEK2):c.1197T>C (p.Val399=) rs1057520268
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp) rs1342820782
NM_007194.4(CHEK2):c.1199G>T (p.Gly400Val) rs1476312560
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=) rs560781587
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr) rs758206293
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val) rs1555913720
NM_007194.4(CHEK2):c.1205_1206inv (p.Ala402Glu)
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn) rs1555913715
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) rs369070738
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
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.1217G>A (p.Arg406His) rs200649225
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly) rs1555913689
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.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn) rs1555913662
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) rs760118917
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.1255A>G (p.Ile419Val) rs1569113123
NM_007194.4(CHEK2):c.1259+14T>A rs780245762
NM_007194.4(CHEK2):c.1259+14T>C rs780245762
NM_007194.4(CHEK2):c.1259+16A>G rs756361647
NM_007194.4(CHEK2):c.1259+17T>C rs746109434
NM_007194.4(CHEK2):c.1259+8A>G rs368388249
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.1260-10C>G rs730881706
NM_007194.4(CHEK2):c.1260-11C>G rs1253886648
NM_007194.4(CHEK2):c.1260-15T>G rs1569112557
NM_007194.4(CHEK2):c.1260-18C>G rs1057521375
NM_007194.4(CHEK2):c.1260-18C>T rs1057521375
NM_007194.4(CHEK2):c.1260-20CT[3] rs760037989
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1260-8A>G rs863224747
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>A (p.Ser422Asn) rs549755590
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) rs549755590
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=) rs781514295
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys) rs1064795041
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His) rs200050883
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
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.1323C>T (p.Thr441=) rs753839004
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr) rs1555913437
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala) rs139088611
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=) rs776093527
NM_007194.4(CHEK2):c.1375+17del rs1191159078
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro) rs769729382
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
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.1383C>G (p.Asp461Glu) rs1060502702
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=) rs876659337
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.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=) rs864622382
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) rs1064793511
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992
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.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=) rs1060504697
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr) rs773600515
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) rs587780177
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser) rs548850521
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1461+3G>A rs1555913067
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400
NM_007194.4(CHEK2):c.1461+6T>C rs1064795915
NM_007194.4(CHEK2):c.1461+8T>C rs1057521960
NM_007194.4(CHEK2):c.1462-12A>G rs1339529482
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698
NM_007194.4(CHEK2):c.1462-20T>C rs747767986
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1462-7C>G rs730881707
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) rs886041173
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) rs730881694
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) rs730881694
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) rs587780178
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.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=) rs531931623
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=) rs1057521300
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
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.150C>T (p.Ser50=) rs967317594
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.1513T>C (p.Ser505Pro) rs587781960
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) rs876660898
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro) rs1338238773
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His) rs1569104011
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.1542+11T>C rs17881716
NM_007194.4(CHEK2):c.1542+6C>T rs1414780425
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.1547_1549CTA[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.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) rs373959274
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) rs761278013
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.156C>G (p.Ser52=) rs1555932466
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr) rs1444665408
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) rs753204096
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) rs587781710
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.1597A>T (p.Thr533Ser) rs562517792
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
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.1604G>A (p.Arg535His) rs544216926
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=) rs773670297
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) rs1555932401
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly) rs766499735
NM_007194.4(CHEK2):c.189A>G (p.Leu63=) rs761028062
NM_007194.4(CHEK2):c.18T>C (p.Asp6=) rs1555932937
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) rs864622684
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.214_218TATTC[1] (p.Ser73_Ile74insTer) rs766416564
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.225T>G (p.Pro75=) rs1217608176
NM_007194.4(CHEK2):c.231_245CCAAGAACCTGAGGA[1] (p.77_81DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.231_245CCAAGAACCTGAGGA[3] (p.77_81DQEPE[3]) rs587780181
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.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.252_254delinsGCT (p.Pro85Leu) rs1569170273
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) rs17883862
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.255T>C (p.Pro85=) rs1418971926
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr) rs757530141
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu) rs758792132
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly) 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.277T>C (p.Trp93Arg) rs730881697
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070
NM_007194.4(CHEK2):c.280G>C (p.Ala94Pro) rs753860983
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) rs750596499
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) rs767758092
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) rs537051622
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.307T>C (p.Phe103Leu) rs587781669
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser) rs876658140
NM_007194.4(CHEK2):c.319+17T>C rs770423802
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.319+3865T>C rs964218389
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.320-16T>C rs773890954
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-5T>A rs121908700
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.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.344T>C (p.Phe115Ser) rs1060502706
NM_007194.4(CHEK2):c.347G>C (p.Gly116Ala) rs745943179
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) rs876661027
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys) rs587781982
NM_007194.4(CHEK2):c.359G>A (p.Ser120Asn) rs786202246
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe) rs777887044
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys) rs876658557
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178
NM_007194.4(CHEK2):c.383C>T (p.Pro128Leu) rs587781879
NM_007194.4(CHEK2):c.384A>G (p.Pro128=) rs766409666
NM_007194.4(CHEK2):c.38A>G (p.His13Arg) rs1064793324
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys) rs1569158606
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187
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.428A>G (p.His143Arg) rs587782300
NM_007194.4(CHEK2):c.432T>C (p.Phe144=) rs876658374
NM_007194.4(CHEK2):c.433C>A (p.Arg145=) rs137853007
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro)
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.444+19T>C rs200501745
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+20G>T rs755989738
NM_007194.4(CHEK2):c.444+3A>G rs587781279
NM_007194.4(CHEK2):c.444+3A>T rs587781279
NM_007194.4(CHEK2):c.445-10T>C rs1060504692
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.451G>T (p.Gly151Cys) rs587781377
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.468C>T (p.Tyr156=) rs1555926996
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg) rs1426424086
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) 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.475T>C (p.Tyr159His) rs781254437
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys) rs1060502718
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val) rs876659950
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.480_482AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser) rs587782413
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu) rs144850845
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684
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.507T>G (p.Phe169Leu) rs876659233
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala) rs786203836
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.528G>C (p.Gly176=) rs587780889
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu) rs137853009
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser) rs151218932
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile) rs369223840
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val) rs786203483
NM_007194.4(CHEK2):c.570A>T (p.Ala190=) rs754689169
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267
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.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+19G>T rs1569157121
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.592+4A>G rs375905418
NM_007194.4(CHEK2):c.592+5TAT[2] rs1555926697
NM_007194.4(CHEK2):c.592+9A>G rs538351542
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>T 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.598G>A (p.Val200Ile) rs730881704
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724
NM_007194.4(CHEK2):c.600C>G (p.Val200=) rs141685349
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu) rs758529351
NM_007194.4(CHEK2):c.606del (p.Phe202fs) rs886039609
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
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.619_621GAT[1] (p.Asp208del)
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) rs767253467
NM_007194.4(CHEK2):c.633T>C (p.Val211=) rs1555924460
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.645A>G (p.Ala215=) rs761630560
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273
NM_007194.4(CHEK2):c.654T>C (p.Asp218=) rs907621837
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612
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.67G>A (p.Gly23Ser) rs1569171589
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys) rs745475247
NM_007194.4(CHEK2):c.683+10T>C rs747427230
NM_007194.4(CHEK2):c.683+15T>G rs1569149564
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+9T>C rs1060504691
NM_007194.4(CHEK2):c.684-14G>C rs1555921411
NM_007194.4(CHEK2):c.684-16T>C rs1056041546
NM_007194.4(CHEK2):c.684-20A>G rs1057520266
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.688G>C (p.Ala230Pro) rs748636216
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216
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.6T>C (p.Ser2=) rs768632104
NM_007194.4(CHEK2):c.705G>A (p.Lys235=) rs1555921297
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp) rs878854921
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln) rs121908702
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile) rs765136136
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984
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.73G>A (p.Val25Ile) rs142243299
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
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.777T>C (p.Gly259=) rs876659828
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln) rs730881686
NM_007194.4(CHEK2):c.792+11A>G rs765935437
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.793-11G>A rs5997387
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>C rs778511901
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe) rs766462610
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro) rs1060502697
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln) rs749963436
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196
NM_007194.4(CHEK2):c.846+15_846+16del rs775989721
NM_007194.4(CHEK2):c.846+1G>C rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.846+6TAT[2] rs1555920076
NM_007194.4(CHEK2):c.847-10C>G rs745745105
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.847-15_847-14insGG rs1555917068
NM_007194.4(CHEK2):c.847-17T>C rs199780411
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.857T>C (p.Ile286Thr) rs1555917019
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) rs876659184
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs) rs1555932735
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly) rs1555916963
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) rs876659553
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>C (p.Ile299Thr) rs876659870
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) rs779607427
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.904G>A (p.Glu302Lys) rs587782460
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.908+10A>G rs774973319
NM_007194.4(CHEK2):c.908+11A>T rs1555916864
NM_007194.4(CHEK2):c.908+14T>G rs538313507
NM_007194.4(CHEK2):c.908+18T>A rs755416802
NM_007194.4(CHEK2):c.908+18del rs778668907
NM_007194.4(CHEK2):c.908+19A>T rs759973493
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr) rs587782033
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) rs587780191
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>C (p.Gly306Ala) rs587780192
NM_007194.4(CHEK2):c.918G>C (p.Gly306=) rs1057523756
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe) rs1555932714
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
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.948T>A (p.Asn316Lys) rs1569121419
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
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.996C>T (p.Leu332=) rs1053994833
NM_007194.4(CHEK2):c.997T>C (p.Leu333=) rs1352758126

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