Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.28693827_28694089delCA2580099356CHEK2c.*143_*196+209del
c.1207_1260+209del
c.1408_1461+209del
c.745_798+209del
c.748_801+209del
n.960_1013+209del
c.1321_1374+209del
c.1537_1590+209del
c.1135_1188+209del
c.*898_*951+209del
c.1317_1370+209del
c.1346_1399+209del
c.606_659+209del
c.1298_1351+209del
c.264-4870_264-4608del
c.928_981+209del
c.865_918+209del
c.1567_1620+209del
c.1480_1533+209del
c.1336_1389+209del
c.1237_1290+209del
n.1567_1620+209del
c.961_1014+209del
c.1531_1584+209del
c.1438_1491+209del
c.1351_1404+209del
n.1578_1631+209del
 ClinVar
22g.28694066_28694077delCA10577630CHEK2c.*152_*163del (n.*152_*163del)
c.1216_1227del (p.Ala406_Thr409del)
c.1417_1428del (p.Ala473_Thr476del)
c.754_765del (p.Ala252_Thr255del)
c.757_768del (p.Ala253_Thr256del)
n.969_980del
c.1330_1341del (p.Ala444_Thr447del)
c.1546_1557del (p.Ala516_Thr519del)
c.1144_1155del (p.Ala382_Thr385del)
c.*907_*918del (n.*907_*918del)
c.1326_1337del (n.1326_1337del)
c.1355_1366del (n.1355_1366del)
c.615_626del
c.1307_1318del (n.1307_1318del)
c.264-4861_264-4850del
c.937_948del (p.Ala313_Thr316del)
c.874_885del (p.Ala292_Thr295del)
c.1576_1587del (p.Ala526_Thr529del)
c.1489_1500del (p.Ala497_Thr500del)
c.1345_1356del (p.Ala449_Thr452del)
c.1246_1257del (p.Ala416_Thr419del)
n.1576_1587del
c.970_981del (p.Ala324_Thr327del)
c.1540_1551del (p.Ala514_Thr517del)
c.1447_1458del (p.Ala483_Thr486del)
c.1360_1371del (p.Ala454_Thr457del)
n.1587_1598del
 ClinVar dbSNP
22g.28694077C>ACA411094311CHEK2c.*151G>T (n.*151G>T)
c.1215G>T (p.Lys405Asn)
c.1416G>T (p.Lys472Asn)
c.753G>T (p.Lys251Asn)
c.756G>T (p.Lys252Asn)
n.968G>T
c.1329G>T (p.Lys443Asn)
c.1545G>T (p.Lys515Asn)
c.1143G>T (p.Lys381Asn)
c.*906G>T (n.*906G>T)
c.1325G>T (n.1325G>T)
c.1354G>T (n.1354G>T)
c.614G>T
c.1306G>T (n.1306G>T)
c.264-4862G>T
c.936G>T (p.Lys312Asn)
c.873G>T (p.Lys291Asn)
c.1575G>T (p.Lys525Asn)
c.1488G>T (p.Lys496Asn)
c.1344G>T (p.Lys448Asn)
c.1245G>T (p.Lys415Asn)
n.1575G>T
c.969G>T (p.Lys323Asn)
c.1539G>T (p.Lys513Asn)
c.1446G>T (p.Lys482Asn)
c.1359G>T (p.Lys453Asn)
n.1586G>T
 dbSNP
22g.28694077C=CA2400237505CHEK2c.*151G= (n.*151G=)
c.1215G= (p.Lys405=)
c.1416G= (p.Lys472=)
c.753G= (p.Lys251=)
c.756G= (p.Lys252=)
n.968G=
c.1329G= (p.Lys443=)
c.1545G= (p.Lys515=)
c.1143G= (p.Lys381=)
c.*906G= (n.*906G=)
c.1325G= (n.1325G=)
c.1354G= (n.1354G=)
c.614G=
c.1306G= (n.1306G=)
c.264-4862G=
c.936G= (p.Lys312=)
c.873G= (p.Lys291=)
c.1575G= (p.Lys525=)
c.1488G= (p.Lys496=)
c.1344G= (p.Lys448=)
c.1245G= (p.Lys415=)
n.1575G=
c.969G= (p.Lys323=)
c.1539G= (p.Lys513=)
c.1446G= (p.Lys482=)
c.1359G= (p.Lys453=)
n.1586G=
22g.28694077C>GCA411094313CHEK2c.*151G>C (n.*151G>C)
c.1215G>C (p.Lys405Asn)
c.1416G>C (p.Lys472Asn)
c.753G>C (p.Lys251Asn)
c.756G>C (p.Lys252Asn)
n.968G>C
c.1329G>C (p.Lys443Asn)
c.1545G>C (p.Lys515Asn)
c.1143G>C (p.Lys381Asn)
c.*906G>C (n.*906G>C)
c.1325G>C (n.1325G>C)
c.1354G>C (n.1354G>C)
c.614G>C
c.1306G>C (n.1306G>C)
c.264-4862G>C
c.936G>C (p.Lys312Asn)
c.873G>C (p.Lys291Asn)
c.1575G>C (p.Lys525Asn)
c.1488G>C (p.Lys496Asn)
c.1344G>C (p.Lys448Asn)
c.1245G>C (p.Lys415Asn)
n.1575G>C
c.969G>C (p.Lys323Asn)
c.1539G>C (p.Lys513Asn)
c.1446G>C (p.Lys482Asn)
c.1359G>C (p.Lys453Asn)
n.1586G>C
 dbSNP
22g.28694077C>TCA513944764CHEK2c.*151G>A (n.*151G>A)
c.1215G>A (p.Lys405=)
c.1416G>A (p.Lys472=)
c.753G>A (p.Lys251=)
c.756G>A (p.Lys252=)
n.968G>A
c.1329G>A (p.Lys443=)
c.1545G>A (p.Lys515=)
c.1143G>A (p.Lys381=)
c.*906G>A (n.*906G>A)
c.1325G>A (n.1325G>A)
c.1354G>A (n.1354G>A)
c.614G>A
c.1306G>A (n.1306G>A)
c.264-4862G>A
c.936G>A (p.Lys312=)
c.873G>A (p.Lys291=)
c.1575G>A (p.Lys525=)
c.1488G>A (p.Lys496=)
c.1344G>A (p.Lys448=)
c.1245G>A (p.Lys415=)
n.1575G>A
c.969G>A (p.Lys323=)
c.1539G>A (p.Lys513=)
c.1446G>A (p.Lys482=)
c.1359G>A (p.Lys453=)
n.1586G>A
 ClinVar dbSNP
22g.28694077_28694078delinsCTCA2400237504CHEK2c.*150_*151delinsAG (n.*150_*151delinsAG)
c.1214_1215delinsAG (p.Lys405=)
c.1415_1416delinsAG (p.Lys472=)
c.752_753delinsAG (p.Lys251=)
c.755_756delinsAG (p.Lys252=)
n.967_968delinsAG
c.1328_1329delinsAG (p.Lys443=)
c.1544_1545delinsAG (p.Lys515=)
c.1142_1143delinsAG (p.Lys381=)
c.*905_*906delinsAG (n.*905_*906delinsAG)
c.1324_1325delinsAG (n.1324_1325delinsAG)
c.1353_1354delinsAG (n.1353_1354delinsAG)
c.613_614delinsAG
c.1305_1306delinsAG (n.1305_1306delinsAG)
c.264-4863_264-4862delinsAG
c.935_936delinsAG (p.Lys312=)
c.872_873delinsAG (p.Lys291=)
c.1574_1575delinsAG (p.Lys525=)
c.1487_1488delinsAG (p.Lys496=)
c.1343_1344delinsAG (p.Lys448=)
c.1244_1245delinsAG (p.Lys415=)
n.1574_1575delinsAG
c.968_969delinsAG (p.Lys323=)
c.1538_1539delinsAG (p.Lys513=)
c.1445_1446delinsAG (p.Lys482=)
c.1358_1359delinsAG (p.Lys453=)
n.1585_1586delinsAG
22g.28694078T>ACA411094319CHEK2c.*150A>T (n.*150A>T)
c.1214A>T (p.Lys405Met)
c.1415A>T (p.Lys472Met)
c.752A>T (p.Lys251Met)
c.755A>T (p.Lys252Met)
n.967A>T
c.1328A>T (p.Lys443Met)
c.1544A>T (p.Lys515Met)
c.1142A>T (p.Lys381Met)
c.*905A>T (n.*905A>T)
c.1324A>T (n.1324A>T)
c.1353A>T (n.1353A>T)
c.613A>T
c.1305A>T (n.1305A>T)
c.264-4863A>T
c.935A>T (p.Lys312Met)
c.872A>T (p.Lys291Met)
c.1574A>T (p.Lys525Met)
c.1487A>T (p.Lys496Met)
c.1343A>T (p.Lys448Met)
c.1244A>T (p.Lys415Met)
n.1574A>T
c.968A>T (p.Lys323Met)
c.1538A>T (p.Lys513Met)
c.1445A>T (p.Lys482Met)
c.1358A>T (p.Lys453Met)
n.1585A>T
 dbSNP
22g.28694078T>CCA16621046CHEK2c.*150A>G (n.*150A>G)
c.1214A>G (p.Lys405Arg)
c.1415A>G (p.Lys472Arg)
c.752A>G (p.Lys251Arg)
c.755A>G (p.Lys252Arg)
n.967A>G
c.1328A>G (p.Lys443Arg)
c.1544A>G (p.Lys515Arg)
c.1142A>G (p.Lys381Arg)
c.*905A>G (n.*905A>G)
c.1324A>G (n.1324A>G)
c.1353A>G (n.1353A>G)
c.613A>G
c.1305A>G (n.1305A>G)
c.264-4863A>G
c.935A>G (p.Lys312Arg)
c.872A>G (p.Lys291Arg)
c.1574A>G (p.Lys525Arg)
c.1487A>G (p.Lys496Arg)
c.1343A>G (p.Lys448Arg)
c.1244A>G (p.Lys415Arg)
n.1574A>G
c.968A>G (p.Lys323Arg)
c.1538A>G (p.Lys513Arg)
c.1445A>G (p.Lys482Arg)
c.1358A>G (p.Lys453Arg)
n.1585A>G
 ClinVar dbSNP gnomAD v4
22g.28694078T>GCA411094315CHEK2c.*150A>C (n.*150A>C)
c.1214A>C (p.Lys405Thr)
c.1415A>C (p.Lys472Thr)
c.752A>C (p.Lys251Thr)
c.755A>C (p.Lys252Thr)
n.967A>C
c.1328A>C (p.Lys443Thr)
c.1544A>C (p.Lys515Thr)
c.1142A>C (p.Lys381Thr)
c.*905A>C (n.*905A>C)
c.1324A>C (n.1324A>C)
c.1353A>C (n.1353A>C)
c.613A>C
c.1305A>C (n.1305A>C)
c.264-4863A>C
c.935A>C (p.Lys312Thr)
c.872A>C (p.Lys291Thr)
c.1574A>C (p.Lys525Thr)
c.1487A>C (p.Lys496Thr)
c.1343A>C (p.Lys448Thr)
c.1244A>C (p.Lys415Thr)
n.1574A>C
c.968A>C (p.Lys323Thr)
c.1538A>C (p.Lys513Thr)
c.1445A>C (p.Lys482Thr)
c.1358A>C (p.Lys453Thr)
n.1585A>C
22g.28694078T=CA2400237506CHEK2c.*150A= (n.*150A=)
c.1214A= (p.Lys405=)
c.1415A= (p.Lys472=)
c.752A= (p.Lys251=)
c.755A= (p.Lys252=)
n.967A=
c.1328A= (p.Lys443=)
c.1544A= (p.Lys515=)
c.1142A= (p.Lys381=)
c.*905A= (n.*905A=)
c.1324A= (n.1324A=)
c.1353A= (n.1353A=)
c.613A=
c.1305A= (n.1305A=)
c.264-4863A=
c.935A= (p.Lys312=)
c.872A= (p.Lys291=)
c.1574A= (p.Lys525=)
c.1487A= (p.Lys496=)
c.1343A= (p.Lys448=)
c.1244A= (p.Lys415=)
n.1574A=
c.968A= (p.Lys323=)
c.1538A= (p.Lys513=)
c.1445A= (p.Lys482=)
c.1358A= (p.Lys453=)
n.1585A=
22g.28694080delCA638797477CHEK2c.*150del (n.*150del)
c.1214del (p.Lys405ArgfsTer10)
c.1415del (p.Lys472ArgfsTer10)
c.752del (p.Lys251ArgfsTer10)
c.755del (p.Lys252ArgfsTer10)
n.967del
c.1328del (p.Lys443ArgfsTer10)
c.1544del (p.Lys515ArgfsTer10)
c.1142del (p.Lys381ArgfsTer10)
c.*905del (n.*905del)
c.1324del (n.1324del)
c.1353del (n.1353del)
c.613del
c.1305del (n.1305del)
c.264-4863del
c.935del (p.Lys312ArgfsTer10)
c.872del (p.Lys291ArgfsTer10)
c.1574del (p.Lys525ArgfsTer10)
c.1487del (p.Lys496ArgfsTer10)
c.1343del (p.Lys448ArgfsTer10)
c.1244del (p.Lys415ArgfsTer10)
n.1574del
c.968del (p.Lys323ArgfsTer10)
c.1538del (p.Lys513ArgfsTer10)
c.1445del (p.Lys482ArgfsTer10)
c.1358del (p.Lys453ArgfsTer10)
n.1585del
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.28694079T>ACA411094322CHEK2c.*149A>T (n.*149A>T)
c.1213A>T (p.Lys405Ter)
c.1414A>T (p.Lys472Ter)
c.751A>T (p.Lys251Ter)
c.754A>T (p.Lys252Ter)
n.966A>T
c.1327A>T (p.Lys443Ter)
c.1543A>T (p.Lys515Ter)
c.1141A>T (p.Lys381Ter)
c.*904A>T (n.*904A>T)
c.1323A>T (n.1323A>T)
c.1352A>T (n.1352A>T)
c.612A>T
c.1304A>T (n.1304A>T)
c.264-4864A>T
c.934A>T (p.Lys312Ter)
c.871A>T (p.Lys291Ter)
c.1573A>T (p.Lys525Ter)
c.1486A>T (p.Lys496Ter)
c.1342A>T (p.Lys448Ter)
c.1243A>T (p.Lys415Ter)
n.1573A>T
c.967A>T (p.Lys323Ter)
c.1537A>T (p.Lys513Ter)
c.1444A>T (p.Lys482Ter)
c.1357A>T (p.Lys453Ter)
n.1584A>T
22g.28694079T>CCA411094324CHEK2c.*149A>G (n.*149A>G)
c.1213A>G (p.Lys405Glu)
c.1414A>G (p.Lys472Glu)
c.751A>G (p.Lys251Glu)
c.754A>G (p.Lys252Glu)
n.966A>G
c.1327A>G (p.Lys443Glu)
c.1543A>G (p.Lys515Glu)
c.1141A>G (p.Lys381Glu)
c.*904A>G (n.*904A>G)
c.1323A>G (n.1323A>G)
c.1352A>G (n.1352A>G)
c.612A>G
c.1304A>G (n.1304A>G)
c.264-4864A>G
c.934A>G (p.Lys312Glu)
c.871A>G (p.Lys291Glu)
c.1573A>G (p.Lys525Glu)
c.1486A>G (p.Lys496Glu)
c.1342A>G (p.Lys448Glu)
c.1243A>G (p.Lys415Glu)
n.1573A>G
c.967A>G (p.Lys323Glu)
c.1537A>G (p.Lys513Glu)
c.1444A>G (p.Lys482Glu)
c.1357A>G (p.Lys453Glu)
n.1584A>G
 ClinVar dbSNP gnomAD v4
22g.28694079T>GCA411094325CHEK2c.*149A>C (n.*149A>C)
c.1213A>C (p.Lys405Gln)
c.1414A>C (p.Lys472Gln)
c.751A>C (p.Lys251Gln)
c.754A>C (p.Lys252Gln)
n.966A>C
c.1327A>C (p.Lys443Gln)
c.1543A>C (p.Lys515Gln)
c.1141A>C (p.Lys381Gln)
c.*904A>C (n.*904A>C)
c.1323A>C (n.1323A>C)
c.1352A>C (n.1352A>C)
c.612A>C
c.1304A>C (n.1304A>C)
c.264-4864A>C
c.934A>C (p.Lys312Gln)
c.871A>C (p.Lys291Gln)
c.1573A>C (p.Lys525Gln)
c.1486A>C (p.Lys496Gln)
c.1342A>C (p.Lys448Gln)
c.1243A>C (p.Lys415Gln)
n.1573A>C
c.967A>C (p.Lys323Gln)
c.1537A>C (p.Lys513Gln)
c.1444A>C (p.Lys482Gln)
c.1357A>C (p.Lys453Gln)
n.1584A>C
 ClinVar dbSNP
22g.28694079T=CA2400237507CHEK2c.*149A= (n.*149A=)
c.1213A= (p.Lys405=)
c.1414A= (p.Lys472=)
c.751A= (p.Lys251=)
c.754A= (p.Lys252=)
n.966A=
c.1327A= (p.Lys443=)
c.1543A= (p.Lys515=)
c.1141A= (p.Lys381=)
c.*904A= (n.*904A=)
c.1323A= (n.1323A=)
c.1352A= (n.1352A=)
c.612A=
c.1304A= (n.1304A=)
c.264-4864A=
c.934A= (p.Lys312=)
c.871A= (p.Lys291=)
c.1573A= (p.Lys525=)
c.1486A= (p.Lys496=)
c.1342A= (p.Lys448=)
c.1243A= (p.Lys415=)
n.1573A=
c.967A= (p.Lys323=)
c.1537A= (p.Lys513=)
c.1444A= (p.Lys482=)
c.1357A= (p.Lys453=)
n.1584A=
22g.28694080T>ACA513944765CHEK2c.*148A>T (n.*148A>T)
c.1212A>T (p.Pro404=)
c.1413A>T (p.Pro471=)
c.750A>T (p.Pro250=)
c.753A>T (p.Pro251=)
n.965A>T
c.1326A>T (p.Pro442=)
c.1542A>T (p.Pro514=)
c.1140A>T (p.Pro380=)
c.*903A>T (n.*903A>T)
c.1322A>T (n.1322A>T)
c.1351A>T (n.1351A>T)
c.611A>T
c.1303A>T (n.1303A>T)
c.264-4865A>T
c.933A>T (p.Pro311=)
c.870A>T (p.Pro290=)
c.1572A>T (p.Pro524=)
c.1485A>T (p.Pro495=)
c.1341A>T (p.Pro447=)
c.1242A>T (p.Pro414=)
n.1572A>T
c.966A>T (p.Pro322=)
c.1536A>T (p.Pro512=)
c.1443A>T (p.Pro481=)
c.1356A>T (p.Pro452=)
n.1583A>T
22g.28694080T>CCA513944766CHEK2c.*148A>G (n.*148A>G)
c.1212A>G (p.Pro404=)
c.1413A>G (p.Pro471=)
c.750A>G (p.Pro250=)
c.753A>G (p.Pro251=)
n.965A>G
c.1326A>G (p.Pro442=)
c.1542A>G (p.Pro514=)
c.1140A>G (p.Pro380=)
c.*903A>G (n.*903A>G)
c.1322A>G (n.1322A>G)
c.1351A>G (n.1351A>G)
c.611A>G
c.1303A>G (n.1303A>G)
c.264-4865A>G
c.933A>G (p.Pro311=)
c.870A>G (p.Pro290=)
c.1572A>G (p.Pro524=)
c.1485A>G (p.Pro495=)
c.1341A>G (p.Pro447=)
c.1242A>G (p.Pro414=)
n.1572A>G
c.966A>G (p.Pro322=)
c.1536A>G (p.Pro512=)
c.1443A>G (p.Pro481=)
c.1356A>G (p.Pro452=)
n.1583A>G
 ClinVar
22g.28694080T>GCA513944767CHEK2c.*148A>C (n.*148A>C)
c.1212A>C (p.Pro404=)
c.1413A>C (p.Pro471=)
c.750A>C (p.Pro250=)
c.753A>C (p.Pro251=)
n.965A>C
c.1326A>C (p.Pro442=)
c.1542A>C (p.Pro514=)
c.1140A>C (p.Pro380=)
c.*903A>C (n.*903A>C)
c.1322A>C (n.1322A>C)
c.1351A>C (n.1351A>C)
c.611A>C
c.1303A>C (n.1303A>C)
c.264-4865A>C
c.933A>C (p.Pro311=)
c.870A>C (p.Pro290=)
c.1572A>C (p.Pro524=)
c.1485A>C (p.Pro495=)
c.1341A>C (p.Pro447=)
c.1242A>C (p.Pro414=)
n.1572A>C
c.966A>C (p.Pro322=)
c.1536A>C (p.Pro512=)
c.1443A>C (p.Pro481=)
c.1356A>C (p.Pro452=)
n.1583A>C
22g.28694081G>ACA16616329CHEK2c.*147C>T (n.*147C>T)
c.1211C>T (p.Pro404Leu)
c.1412C>T (p.Pro471Leu)
c.749C>T (p.Pro250Leu)
c.752C>T (p.Pro251Leu)
n.964C>T
c.1325C>T (p.Pro442Leu)
c.1541C>T (p.Pro514Leu)
c.1139C>T (p.Pro380Leu)
c.*902C>T (n.*902C>T)
c.1321C>T (n.1321C>T)
c.1350C>T (n.1350C>T)
c.610C>T
c.1302C>T (n.1302C>T)
c.264-4866C>T
c.932C>T (p.Pro311Leu)
c.869C>T (p.Pro290Leu)
c.1571C>T (p.Pro524Leu)
c.1484C>T (p.Pro495Leu)
c.1340C>T (p.Pro447Leu)
c.1241C>T (p.Pro414Leu)
n.1571C>T
c.965C>T (p.Pro322Leu)
c.1535C>T (p.Pro512Leu)
c.1442C>T (p.Pro481Leu)
c.1355C>T (p.Pro452Leu)
n.1582C>T
 ClinVar dbSNP gnomAD v4
22g.28694081G>CCA411094326CHEK2c.*147C>G (n.*147C>G)
c.1211C>G (p.Pro404Arg)
c.1412C>G (p.Pro471Arg)
c.749C>G (p.Pro250Arg)
c.752C>G (p.Pro251Arg)
n.964C>G
c.1325C>G (p.Pro442Arg)
c.1541C>G (p.Pro514Arg)
c.1139C>G (p.Pro380Arg)
c.*902C>G (n.*902C>G)
c.1321C>G (n.1321C>G)
c.1350C>G (n.1350C>G)
c.610C>G
c.1302C>G (n.1302C>G)
c.264-4866C>G
c.932C>G (p.Pro311Arg)
c.869C>G (p.Pro290Arg)
c.1571C>G (p.Pro524Arg)
c.1484C>G (p.Pro495Arg)
c.1340C>G (p.Pro447Arg)
c.1241C>G (p.Pro414Arg)
n.1571C>G
c.965C>G (p.Pro322Arg)
c.1535C>G (p.Pro512Arg)
c.1442C>G (p.Pro481Arg)
c.1355C>G (p.Pro452Arg)
n.1582C>G
 dbSNP
22g.28694081G=CA2400237508CHEK2c.*147C= (n.*147C=)
c.1211C= (p.Pro404=)
c.1412C= (p.Pro471=)
c.749C= (p.Pro250=)
c.752C= (p.Pro251=)
n.964C=
c.1325C= (p.Pro442=)
c.1541C= (p.Pro514=)
c.1139C= (p.Pro380=)
c.*902C= (n.*902C=)
c.1321C= (n.1321C=)
c.1350C= (n.1350C=)
c.610C=
c.1302C= (n.1302C=)
c.264-4866C=
c.932C= (p.Pro311=)
c.869C= (p.Pro290=)
c.1571C= (p.Pro524=)
c.1484C= (p.Pro495=)
c.1340C= (p.Pro447=)
c.1241C= (p.Pro414=)
n.1571C=
c.965C= (p.Pro322=)
c.1535C= (p.Pro512=)
c.1442C= (p.Pro481=)
c.1355C= (p.Pro452=)
n.1582C=
22g.28694081G>TCA411094327CHEK2c.*147C>A (n.*147C>A)
c.1211C>A (p.Pro404Gln)
c.1412C>A (p.Pro471Gln)
c.749C>A (p.Pro250Gln)
c.752C>A (p.Pro251Gln)
n.964C>A
c.1325C>A (p.Pro442Gln)
c.1541C>A (p.Pro514Gln)
c.1139C>A (p.Pro380Gln)
c.*902C>A (n.*902C>A)
c.1321C>A (n.1321C>A)
c.1350C>A (n.1350C>A)
c.610C>A
c.1302C>A (n.1302C>A)
c.264-4866C>A
c.932C>A (p.Pro311Gln)
c.869C>A (p.Pro290Gln)
c.1571C>A (p.Pro524Gln)
c.1484C>A (p.Pro495Gln)
c.1340C>A (p.Pro447Gln)
c.1241C>A (p.Pro414Gln)
n.1571C>A
c.965C>A (p.Pro322Gln)
c.1535C>A (p.Pro512Gln)
c.1442C>A (p.Pro481Gln)
c.1355C>A (p.Pro452Gln)
n.1582C>A
 dbSNP
22g.28694082G>ACA411094330CHEK2c.*146C>T (n.*146C>T)
c.1210C>T (p.Pro404Ser)
c.1411C>T (p.Pro471Ser)
c.748C>T (p.Pro250Ser)
c.751C>T (p.Pro251Ser)
n.963C>T
c.1324C>T (p.Pro442Ser)
c.1540C>T (p.Pro514Ser)
c.1138C>T (p.Pro380Ser)
c.*901C>T (n.*901C>T)
c.1320C>T (n.1320C>T)
c.1349C>T (n.1349C>T)
c.609C>T
c.1301C>T (n.1301C>T)
c.264-4867C>T
c.931C>T (p.Pro311Ser)
c.868C>T (p.Pro290Ser)
c.1570C>T (p.Pro524Ser)
c.1483C>T (p.Pro495Ser)
c.1339C>T (p.Pro447Ser)
c.1240C>T (p.Pro414Ser)
n.1570C>T
c.964C>T (p.Pro322Ser)
c.1534C>T (p.Pro512Ser)
c.1441C>T (p.Pro481Ser)
c.1354C>T (p.Pro452Ser)
n.1581C>T
 ClinVar dbSNP
22g.28694082G>CCA411094331CHEK2c.*146C>G (n.*146C>G)
c.1210C>G (p.Pro404Ala)
c.1411C>G (p.Pro471Ala)
c.748C>G (p.Pro250Ala)
c.751C>G (p.Pro251Ala)
n.963C>G
c.1324C>G (p.Pro442Ala)
c.1540C>G (p.Pro514Ala)
c.1138C>G (p.Pro380Ala)
c.*901C>G (n.*901C>G)
c.1320C>G (n.1320C>G)
c.1349C>G (n.1349C>G)
c.609C>G
c.1301C>G (n.1301C>G)
c.264-4867C>G
c.931C>G (p.Pro311Ala)
c.868C>G (p.Pro290Ala)
c.1570C>G (p.Pro524Ala)
c.1483C>G (p.Pro495Ala)
c.1339C>G (p.Pro447Ala)
c.1240C>G (p.Pro414Ala)
n.1570C>G
c.964C>G (p.Pro322Ala)
c.1534C>G (p.Pro512Ala)
c.1441C>G (p.Pro481Ala)
c.1354C>G (p.Pro452Ala)
n.1581C>G
 dbSNP
22g.28694082G=CA2400237509CHEK2c.*146C= (n.*146C=)
c.1210C= (p.Pro404=)
c.1411C= (p.Pro471=)
c.748C= (p.Pro250=)
c.751C= (p.Pro251=)
n.963C=
c.1324C= (p.Pro442=)
c.1540C= (p.Pro514=)
c.1138C= (p.Pro380=)
c.*901C= (n.*901C=)
c.1320C= (n.1320C=)
c.1349C= (n.1349C=)
c.609C=
c.1301C= (n.1301C=)
c.264-4867C=
c.931C= (p.Pro311=)
c.868C= (p.Pro290=)
c.1570C= (p.Pro524=)
c.1483C= (p.Pro495=)
c.1339C= (p.Pro447=)
c.1240C= (p.Pro414=)
n.1570C=
c.964C= (p.Pro322=)
c.1534C= (p.Pro512=)
c.1441C= (p.Pro481=)
c.1354C= (p.Pro452=)
n.1581C=
22g.28694082G>TCA411094333CHEK2c.*146C>A (n.*146C>A)
c.1210C>A (p.Pro404Thr)
c.1411C>A (p.Pro471Thr)
c.748C>A (p.Pro250Thr)
c.751C>A (p.Pro251Thr)
n.963C>A
c.1324C>A (p.Pro442Thr)
c.1540C>A (p.Pro514Thr)
c.1138C>A (p.Pro380Thr)
c.*901C>A (n.*901C>A)
c.1320C>A (n.1320C>A)
c.1349C>A (n.1349C>A)
c.609C>A
c.1301C>A (n.1301C>A)
c.264-4867C>A
c.931C>A (p.Pro311Thr)
c.868C>A (p.Pro290Thr)
c.1570C>A (p.Pro524Thr)
c.1483C>A (p.Pro495Thr)
c.1339C>A (p.Pro447Thr)
c.1240C>A (p.Pro414Thr)
n.1570C>A
c.964C>A (p.Pro322Thr)
c.1534C>A (p.Pro512Thr)
c.1441C>A (p.Pro481Thr)
c.1354C>A (p.Pro452Thr)
n.1581C>A
 ClinVar dbSNP
22g.28694083A=CA2400237510CHEK2c.*145T= (n.*145T=)
c.1209T= (p.Asp403=)
c.1410T= (p.Asp470=)
c.747T= (p.Asp249=)
c.750T= (p.Asp250=)
n.962T=
c.1323T= (p.Asp441=)
c.1539T= (p.Asp513=)
c.1137T= (p.Asp379=)
c.*900T= (n.*900T=)
c.1319T= (n.1319T=)
c.1348T= (n.1348T=)
c.608T=
c.1300T= (n.1300T=)
c.264-4868T=
c.930T= (p.Asp310=)
c.867T= (p.Asp289=)
c.1569T= (p.Asp523=)
c.1482T= (p.Asp494=)
c.1338T= (p.Asp446=)
c.1239T= (p.Asp413=)
n.1569T=
c.963T= (p.Asp321=)
c.1533T= (p.Asp511=)
c.1440T= (p.Asp480=)
c.1353T= (p.Asp451=)
n.1580T=
22g.28694083A>CCA411094341CHEK2c.*145T>G (n.*145T>G)
c.1209T>G (p.Asp403Glu)
c.1410T>G (p.Asp470Glu)
c.747T>G (p.Asp249Glu)
c.750T>G (p.Asp250Glu)
n.962T>G
c.1323T>G (p.Asp441Glu)
c.1539T>G (p.Asp513Glu)
c.1137T>G (p.Asp379Glu)
c.*900T>G (n.*900T>G)
c.1319T>G (n.1319T>G)
c.1348T>G (n.1348T>G)
c.608T>G
c.1300T>G (n.1300T>G)
c.264-4868T>G
c.930T>G (p.Asp310Glu)
c.867T>G (p.Asp289Glu)
c.1569T>G (p.Asp523Glu)
c.1482T>G (p.Asp494Glu)
c.1338T>G (p.Asp446Glu)
c.1239T>G (p.Asp413Glu)
n.1569T>G
c.963T>G (p.Asp321Glu)
c.1533T>G (p.Asp511Glu)
c.1440T>G (p.Asp480Glu)
c.1353T>G (p.Asp451Glu)
n.1580T>G
22g.28694083A>GCA348124CHEK2c.*145T>C (n.*145T>C)
c.1209T>C (p.Asp403=)
c.1410T>C (p.Asp470=)
c.747T>C (p.Asp249=)
c.750T>C (p.Asp250=)
n.962T>C
c.1323T>C (p.Asp441=)
c.1539T>C (p.Asp513=)
c.1137T>C (p.Asp379=)
c.*900T>C (n.*900T>C)
c.1319T>C (n.1319T>C)
c.1348T>C (n.1348T>C)
c.608T>C
c.1300T>C (n.1300T>C)
c.264-4868T>C
c.930T>C (p.Asp310=)
c.867T>C (p.Asp289=)
c.1569T>C (p.Asp523=)
c.1482T>C (p.Asp494=)
c.1338T>C (p.Asp446=)
c.1239T>C (p.Asp413=)
n.1569T>C
c.963T>C (p.Asp321=)
c.1533T>C (p.Asp511=)
c.1440T>C (p.Asp480=)
c.1353T>C (p.Asp451=)
n.1580T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.28694083A>TCA411094344CHEK2c.*145T>A (n.*145T>A)
c.1209T>A (p.Asp403Glu)
c.1410T>A (p.Asp470Glu)
c.747T>A (p.Asp249Glu)
c.750T>A (p.Asp250Glu)
n.962T>A
c.1323T>A (p.Asp441Glu)
c.1539T>A (p.Asp513Glu)
c.1137T>A (p.Asp379Glu)
c.*900T>A (n.*900T>A)
c.1319T>A (n.1319T>A)
c.1348T>A (n.1348T>A)
c.608T>A
c.1300T>A (n.1300T>A)
c.264-4868T>A
c.930T>A (p.Asp310Glu)
c.867T>A (p.Asp289Glu)
c.1569T>A (p.Asp523Glu)
c.1482T>A (p.Asp494Glu)
c.1338T>A (p.Asp446Glu)
c.1239T>A (p.Asp413Glu)
n.1569T>A
c.963T>A (p.Asp321Glu)
c.1533T>A (p.Asp511Glu)
c.1440T>A (p.Asp480Glu)
c.1353T>A (p.Asp451Glu)
n.1580T>A
 dbSNP
22g.28694084T>ACA411094350CHEK2c.*144A>T (n.*144A>T)
c.1208A>T (p.Asp403Val)
c.1409A>T (p.Asp470Val)
c.746A>T (p.Asp249Val)
c.749A>T (p.Asp250Val)
n.961A>T
c.1322A>T (p.Asp441Val)
c.1538A>T (p.Asp513Val)
c.1136A>T (p.Asp379Val)
c.*899A>T (n.*899A>T)
c.1318A>T (n.1318A>T)
c.1347A>T (n.1347A>T)
c.607A>T
c.1299A>T (n.1299A>T)
c.264-4869A>T
c.929A>T (p.Asp310Val)
c.866A>T (p.Asp289Val)
c.1568A>T (p.Asp523Val)
c.1481A>T (p.Asp494Val)
c.1337A>T (p.Asp446Val)
c.1238A>T (p.Asp413Val)
n.1568A>T
c.962A>T (p.Asp321Val)
c.1532A>T (p.Asp511Val)
c.1439A>T (p.Asp480Val)
c.1352A>T (p.Asp451Val)
n.1579A>T
22g.28694084T>CCA411094351CHEK2c.*144A>G (n.*144A>G)
c.1208A>G (p.Asp403Gly)
c.1409A>G (p.Asp470Gly)
c.746A>G (p.Asp249Gly)
c.749A>G (p.Asp250Gly)
n.961A>G
c.1322A>G (p.Asp441Gly)
c.1538A>G (p.Asp513Gly)
c.1136A>G (p.Asp379Gly)
c.*899A>G (n.*899A>G)
c.1318A>G (n.1318A>G)
c.1347A>G (n.1347A>G)
c.607A>G
c.1299A>G (n.1299A>G)
c.264-4869A>G
c.929A>G (p.Asp310Gly)
c.866A>G (p.Asp289Gly)
c.1568A>G (p.Asp523Gly)
c.1481A>G (p.Asp494Gly)
c.1337A>G (p.Asp446Gly)
c.1238A>G (p.Asp413Gly)
n.1568A>G
c.962A>G (p.Asp321Gly)
c.1532A>G (p.Asp511Gly)
c.1439A>G (p.Asp480Gly)
c.1352A>G (p.Asp451Gly)
n.1579A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.28694084T>GCA411094346CHEK2c.*144A>C (n.*144A>C)
c.1208A>C (p.Asp403Ala)
c.1409A>C (p.Asp470Ala)
c.746A>C (p.Asp249Ala)
c.749A>C (p.Asp250Ala)
n.961A>C
c.1322A>C (p.Asp441Ala)
c.1538A>C (p.Asp513Ala)
c.1136A>C (p.Asp379Ala)
c.*899A>C (n.*899A>C)
c.1318A>C (n.1318A>C)
c.1347A>C (n.1347A>C)
c.607A>C
c.1299A>C (n.1299A>C)
c.264-4869A>C
c.929A>C (p.Asp310Ala)
c.866A>C (p.Asp289Ala)
c.1568A>C (p.Asp523Ala)
c.1481A>C (p.Asp494Ala)
c.1337A>C (p.Asp446Ala)
c.1238A>C (p.Asp413Ala)
n.1568A>C
c.962A>C (p.Asp321Ala)
c.1532A>C (p.Asp511Ala)
c.1439A>C (p.Asp480Ala)
c.1352A>C (p.Asp451Ala)
n.1579A>C
22g.28694084T=CA2400237511CHEK2c.*144A= (n.*144A=)
c.1208A= (p.Asp403=)
c.1409A= (p.Asp470=)
c.746A= (p.Asp249=)
c.749A= (p.Asp250=)
n.961A=
c.1322A= (p.Asp441=)
c.1538A= (p.Asp513=)
c.1136A= (p.Asp379=)
c.*899A= (n.*899A=)
c.1318A= (n.1318A=)
c.1347A= (n.1347A=)
c.607A=
c.1299A= (n.1299A=)
c.264-4869A=
c.929A= (p.Asp310=)
c.866A= (p.Asp289=)
c.1568A= (p.Asp523=)
c.1481A= (p.Asp494=)
c.1337A= (p.Asp446=)
c.1238A= (p.Asp413=)
n.1568A=
c.962A= (p.Asp321=)
c.1532A= (p.Asp511=)
c.1439A= (p.Asp480=)
c.1352A= (p.Asp451=)
n.1579A=
22g.28694085C>ACA10577626CHEK2c.*143G>T (n.*143G>T)
c.1207G>T (p.Asp403Tyr)
c.1408G>T (p.Asp470Tyr)
c.745G>T (p.Asp249Tyr)
c.748G>T (p.Asp250Tyr)
n.960G>T
c.1321G>T (p.Asp441Tyr)
c.1537G>T (p.Asp513Tyr)
c.1135G>T (p.Asp379Tyr)
c.*898G>T (n.*898G>T)
c.1317G>T (n.1317G>T)
c.1346G>T (n.1346G>T)
c.606G>T
c.1298G>T (n.1298G>T)
c.264-4870G>T
c.928G>T (p.Asp310Tyr)
c.865G>T (p.Asp289Tyr)
c.1567G>T (p.Asp523Tyr)
c.1480G>T (p.Asp494Tyr)
c.1336G>T (p.Asp446Tyr)
c.1237G>T (p.Asp413Tyr)
n.1567G>T
c.961G>T (p.Asp321Tyr)
c.1531G>T (p.Asp511Tyr)
c.1438G>T (p.Asp480Tyr)
c.1351G>T (p.Asp451Tyr)
n.1578G>T
 ClinVar dbSNP gnomAD v4
22g.28694085C=CA2400237513CHEK2c.*143G= (n.*143G=)
c.1207G= (p.Asp403=)
c.1408G= (p.Asp470=)
c.745G= (p.Asp249=)
c.748G= (p.Asp250=)
n.960G=
c.1321G= (p.Asp441=)
c.1537G= (p.Asp513=)
c.1135G= (p.Asp379=)
c.*898G= (n.*898G=)
c.1317G= (n.1317G=)
c.1346G= (n.1346G=)
c.606G=
c.1298G= (n.1298G=)
c.264-4870G=
c.928G= (p.Asp310=)
c.865G= (p.Asp289=)
c.1567G= (p.Asp523=)
c.1480G= (p.Asp494=)
c.1336G= (p.Asp446=)
c.1237G= (p.Asp413=)
n.1567G=
c.961G= (p.Asp321=)
c.1531G= (p.Asp511=)
c.1438G= (p.Asp480=)
c.1351G= (p.Asp451=)
n.1578G=
22g.28694085C>GCA10581027CHEK2c.*143G>C (n.*143G>C)
c.1207G>C (p.Asp403His)
c.1408G>C (p.Asp470His)
c.745G>C (p.Asp249His)
c.748G>C (p.Asp250His)
n.960G>C
c.1321G>C (p.Asp441His)
c.1537G>C (p.Asp513His)
c.1135G>C (p.Asp379His)
c.*898G>C (n.*898G>C)
c.1317G>C (n.1317G>C)
c.1346G>C (n.1346G>C)
c.606G>C
c.1298G>C (n.1298G>C)
c.264-4870G>C
c.928G>C (p.Asp310His)
c.865G>C (p.Asp289His)
c.1567G>C (p.Asp523His)
c.1480G>C (p.Asp494His)
c.1336G>C (p.Asp446His)
c.1237G>C (p.Asp413His)
n.1567G>C
c.961G>C (p.Asp321His)
c.1531G>C (p.Asp511His)
c.1438G>C (p.Asp480His)
c.1351G>C (p.Asp451His)
n.1578G>C
 ClinVar dbSNP
22g.28694085C>TCA411094353CHEK2c.*143G>A (n.*143G>A)
c.1207G>A (p.Asp403Asn)
c.1408G>A (p.Asp470Asn)
c.745G>A (p.Asp249Asn)
c.748G>A (p.Asp250Asn)
n.960G>A
c.1321G>A (p.Asp441Asn)
c.1537G>A (p.Asp513Asn)
c.1135G>A (p.Asp379Asn)
c.*898G>A (n.*898G>A)
c.1317G>A (n.1317G>A)
c.1346G>A (n.1346G>A)
c.606G>A
c.1298G>A (n.1298G>A)
c.264-4870G>A
c.928G>A (p.Asp310Asn)
c.865G>A (p.Asp289Asn)
c.1567G>A (p.Asp523Asn)
c.1480G>A (p.Asp494Asn)
c.1336G>A (p.Asp446Asn)
c.1237G>A (p.Asp413Asn)
n.1567G>A
c.961G>A (p.Asp321Asn)
c.1531G>A (p.Asp511Asn)
c.1438G>A (p.Asp480Asn)
c.1351G>A (p.Asp451Asn)
n.1578G>A
 dbSNP gnomAD v2 gnomAD v4
22g.28694085_28694089delinsCCACTCA2400237512CHEK2c.*139_*143delinsAGTGG (n.*139_*143delinsAGTGG)
c.1203_1207delinsAGTGG (p.Val401=)
c.1404_1408delinsAGTGG (p.Val468=)
c.741_745delinsAGTGG (p.Val247=)
c.744_748delinsAGTGG (p.Val248=)
n.956_960delinsAGTGG
c.1317_1321delinsAGTGG (p.Val439=)
c.1533_1537delinsAGTGG (p.Val511=)
c.1131_1135delinsAGTGG (p.Val377=)
c.*894_*898delinsAGTGG (n.*894_*898delinsAGTGG)
c.1313_1317delinsAGTGG (n.1313_1317delinsAGTGG)
c.1342_1346delinsAGTGG (n.1342_1346delinsAGTGG)
c.602_606delinsAGTGG
c.1294_1298delinsAGTGG (n.1294_1298delinsAGTGG)
c.264-4874_264-4870delinsAGTGG
c.924_928delinsAGTGG (p.Val308=)
c.861_865delinsAGTGG (p.Val287=)
c.1563_1567delinsAGTGG (p.Val521=)
c.1476_1480delinsAGTGG (p.Val492=)
c.1332_1336delinsAGTGG (p.Val444=)
c.1233_1237delinsAGTGG (p.Val411=)
n.1563_1567delinsAGTGG
c.957_961delinsAGTGG (p.Val319=)
c.1527_1531delinsAGTGG (p.Val509=)
c.1434_1438delinsAGTGG (p.Val478=)
c.1347_1351delinsAGTGG (p.Val449=)
n.1574_1578delinsAGTGG
22g.28694086C>ACA513944769CHEK2c.*142G>T (n.*142G>T)
c.1206G>T (p.Val402=)
c.1407G>T (p.Val469=)
c.744G>T (p.Val248=)
c.747G>T (p.Val249=)
n.959G>T
c.1320G>T (p.Val440=)
c.1536G>T (p.Val512=)
c.1134G>T (p.Val378=)
c.*897G>T (n.*897G>T)
c.1316G>T (n.1316G>T)
c.1345G>T (n.1345G>T)
c.605G>T
c.1297G>T (n.1297G>T)
c.264-4871G>T
c.927G>T (p.Val309=)
c.864G>T (p.Val288=)
c.1566G>T (p.Val522=)
c.1479G>T (p.Val493=)
c.1335G>T (p.Val445=)
c.1236G>T (p.Val412=)
n.1566G>T
c.960G>T (p.Val320=)
c.1530G>T (p.Val510=)
c.1437G>T (p.Val479=)
c.1350G>T (p.Val450=)
n.1577G>T
 dbSNP gnomAD v4
22g.28694086C=CA2400237514CHEK2c.*142G= (n.*142G=)
c.1206G= (p.Val402=)
c.1407G= (p.Val469=)
c.744G= (p.Val248=)
c.747G= (p.Val249=)
n.959G=
c.1320G= (p.Val440=)
c.1536G= (p.Val512=)
c.1134G= (p.Val378=)
c.*897G= (n.*897G=)
c.1316G= (n.1316G=)
c.1345G= (n.1345G=)
c.605G=
c.1297G= (n.1297G=)
c.264-4871G=
c.927G= (p.Val309=)
c.864G= (p.Val288=)
c.1566G= (p.Val522=)
c.1479G= (p.Val493=)
c.1335G= (p.Val445=)
c.1236G= (p.Val412=)
n.1566G=
c.960G= (p.Val320=)
c.1530G= (p.Val510=)
c.1437G= (p.Val479=)
c.1350G= (p.Val450=)
n.1577G=
22g.28694086C>GCA513944768CHEK2c.*142G>C (n.*142G>C)
c.1206G>C (p.Val402=)
c.1407G>C (p.Val469=)
c.744G>C (p.Val248=)
c.747G>C (p.Val249=)
n.959G>C
c.1320G>C (p.Val440=)
c.1536G>C (p.Val512=)
c.1134G>C (p.Val378=)
c.*897G>C (n.*897G>C)
c.1316G>C (n.1316G>C)
c.1345G>C (n.1345G>C)
c.605G>C
c.1297G>C (n.1297G>C)
c.264-4871G>C
c.927G>C (p.Val309=)
c.864G>C (p.Val288=)
c.1566G>C (p.Val522=)
c.1479G>C (p.Val493=)
c.1335G>C (p.Val445=)
c.1236G>C (p.Val412=)
n.1566G>C
c.960G>C (p.Val320=)
c.1530G>C (p.Val510=)
c.1437G>C (p.Val479=)
c.1350G>C (p.Val450=)
n.1577G>C
 dbSNP
22g.28694086C>TCA290069CHEK2c.*142G>A (n.*142G>A)
c.1206G>A (p.Val402=)
c.1407G>A (p.Val469=)
c.744G>A (p.Val248=)
c.747G>A (p.Val249=)
n.959G>A
c.1320G>A (p.Val440=)
c.1536G>A (p.Val512=)
c.1134G>A (p.Val378=)
c.*897G>A (n.*897G>A)
c.1316G>A (n.1316G>A)
c.1345G>A (n.1345G>A)
c.605G>A
c.1297G>A (n.1297G>A)
c.264-4871G>A
c.927G>A (p.Val309=)
c.864G>A (p.Val288=)
c.1566G>A (p.Val522=)
c.1479G>A (p.Val493=)
c.1335G>A (p.Val445=)
c.1236G>A (p.Val412=)
n.1566G>A
c.960G>A (p.Val320=)
c.1530G>A (p.Val510=)
c.1437G>A (p.Val479=)
c.1350G>A (p.Val450=)
n.1577G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.28694086_28694089delinsACA891844285CHEK2c.*139_*142delinsT (n.*139_*142delinsT)
c.1203_1206delinsT (p.Val402del)
c.1404_1407delinsT (p.Val469del)
c.741_744delinsT (p.Val248del)
c.744_747delinsT (p.Val249del)
n.956_959delinsT
c.1317_1320delinsT (p.Val440del)
c.1533_1536delinsT (p.Val512del)
c.1131_1134delinsT (p.Val378del)
c.*894_*897delinsT (n.*894_*897delinsT)
c.1313_1316delinsT (n.1313_1316delinsT)
c.1342_1345delinsT (n.1342_1345delinsT)
c.602_605delinsT
c.1294_1297delinsT (n.1294_1297delinsT)
c.264-4874_264-4871delinsT
c.924_927delinsT (p.Val309del)
c.861_864delinsT (p.Val288del)
c.1563_1566delinsT (p.Val522del)
c.1476_1479delinsT (p.Val493del)
c.1332_1335delinsT (p.Val445del)
c.1233_1236delinsT (p.Val412del)
n.1563_1566delinsT
c.957_960delinsT (p.Val320del)
c.1527_1530delinsT (p.Val510del)
c.1434_1437delinsT (p.Val479del)
c.1347_1350delinsT (p.Val450del)
n.1574_1577delinsT
 ClinVar dbSNP
22g.28694087A=CA2400237515CHEK2c.*141T= (n.*141T=)
c.1205T= (p.Val402=)
c.1406T= (p.Val469=)
c.743T= (p.Val248=)
c.746T= (p.Val249=)
n.958T=
c.1319T= (p.Val440=)
c.1535T= (p.Val512=)
c.1133T= (p.Val378=)
c.*896T= (n.*896T=)
c.1315T= (n.1315T=)
c.1344T= (n.1344T=)
c.604T=
c.1296T= (n.1296T=)
c.264-4872T=
c.926T= (p.Val309=)
c.863T= (p.Val288=)
c.1565T= (p.Val522=)
c.1478T= (p.Val493=)
c.1334T= (p.Val445=)
c.1235T= (p.Val412=)
n.1565T=
c.959T= (p.Val320=)
c.1529T= (p.Val510=)
c.1436T= (p.Val479=)
c.1349T= (p.Val450=)
n.1576T=
22g.28694087A>CCA411094356CHEK2c.*141T>G (n.*141T>G)
c.1205T>G (p.Val402Gly)
c.1406T>G (p.Val469Gly)
c.743T>G (p.Val248Gly)
c.746T>G (p.Val249Gly)
n.958T>G
c.1319T>G (p.Val440Gly)
c.1535T>G (p.Val512Gly)
c.1133T>G (p.Val378Gly)
c.*896T>G (n.*896T>G)
c.1315T>G (n.1315T>G)
c.1344T>G (n.1344T>G)
c.604T>G
c.1296T>G (n.1296T>G)
c.264-4872T>G
c.926T>G (p.Val309Gly)
c.863T>G (p.Val288Gly)
c.1565T>G (p.Val522Gly)
c.1478T>G (p.Val493Gly)
c.1334T>G (p.Val445Gly)
c.1235T>G (p.Val412Gly)
n.1565T>G
c.959T>G (p.Val320Gly)
c.1529T>G (p.Val510Gly)
c.1436T>G (p.Val479Gly)
c.1349T>G (p.Val450Gly)
n.1576T>G
 ClinVar dbSNP
22g.28694087A>GCA10167657CHEK2c.*141T>C (n.*141T>C)
c.1205T>C (p.Val402Ala)
c.1406T>C (p.Val469Ala)
c.743T>C (p.Val248Ala)
c.746T>C (p.Val249Ala)
n.958T>C
c.1319T>C (p.Val440Ala)
c.1535T>C (p.Val512Ala)
c.1133T>C (p.Val378Ala)
c.*896T>C (n.*896T>C)
c.1315T>C (n.1315T>C)
c.1344T>C (n.1344T>C)
c.604T>C
c.1296T>C (n.1296T>C)
c.264-4872T>C
c.926T>C (p.Val309Ala)
c.863T>C (p.Val288Ala)
c.1565T>C (p.Val522Ala)
c.1478T>C (p.Val493Ala)
c.1334T>C (p.Val445Ala)
c.1235T>C (p.Val412Ala)
n.1565T>C
c.959T>C (p.Val320Ala)
c.1529T>C (p.Val510Ala)
c.1436T>C (p.Val479Ala)
c.1349T>C (p.Val450Ala)
n.1576T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.28694087A>TCA411094359CHEK2c.*141T>A (n.*141T>A)
c.1205T>A (p.Val402Glu)
c.1406T>A (p.Val469Glu)
c.743T>A (p.Val248Glu)
c.746T>A (p.Val249Glu)
n.958T>A
c.1319T>A (p.Val440Glu)
c.1535T>A (p.Val512Glu)
c.1133T>A (p.Val378Glu)
c.*896T>A (n.*896T>A)
c.1315T>A (n.1315T>A)
c.1344T>A (n.1344T>A)
c.604T>A
c.1296T>A (n.1296T>A)
c.264-4872T>A
c.926T>A (p.Val309Glu)
c.863T>A (p.Val288Glu)
c.1565T>A (p.Val522Glu)
c.1478T>A (p.Val493Glu)
c.1334T>A (p.Val445Glu)
c.1235T>A (p.Val412Glu)
n.1565T>A
c.959T>A (p.Val320Glu)
c.1529T>A (p.Val510Glu)
c.1436T>A (p.Val479Glu)
c.1349T>A (p.Val450Glu)
n.1576T>A
 ClinVar dbSNP
22g.28694089_28694091delCA2655951823CHEK2c.*139_*141del (n.*139_*141del)
c.1203_1205del (p.Val402del)
c.1404_1406del (p.Val469del)
c.741_743del (p.Val248del)
c.744_746del (p.Val249del)
n.956_958del
c.1317_1319del (p.Val440del)
c.1533_1535del (p.Val512del)
c.1131_1133del (p.Val378del)
c.*894_*896del (n.*894_*896del)
c.1313_1315del (n.1313_1315del)
c.1342_1344del (n.1342_1344del)
c.602_604del
c.1294_1296del (n.1294_1296del)
c.264-4874_264-4872del
c.924_926del (p.Val309del)
c.861_863del (p.Val288del)
c.1563_1565del (p.Val522del)
c.1476_1478del (p.Val493del)
c.1332_1334del (p.Val445del)
c.1233_1235del (p.Val412del)
n.1563_1565del
c.957_959del (p.Val320del)
c.1527_1529del (p.Val510del)
c.1434_1436del (p.Val479del)
c.1347_1349del (p.Val450del)
n.1574_1576del
 gnomAD v4

Number of alleles fetched