Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.118480199T>A | CA382826363 | KMT2A | c.3694T>A (p.Trp1232Arg) c.1177T>A (p.Trp393Arg) c.1078T>A (p.Trp360Arg) c.1402T>A (p.Trp468Arg) c.576T>A c.3595T>A (p.Trp1199Arg) c.847T>A (p.Trp283Arg) c.2365T>A (p.Trp789Arg) c.1501T>A (p.Trp501Arg) | |
11 | g.118480199T>C | CA382826365 | KMT2A | c.3694T>C (p.Trp1232Arg) c.1177T>C (p.Trp393Arg) c.1078T>C (p.Trp360Arg) c.1402T>C (p.Trp468Arg) c.576T>C c.3595T>C (p.Trp1199Arg) c.847T>C (p.Trp283Arg) c.2365T>C (p.Trp789Arg) c.1501T>C (p.Trp501Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.118480199T>G | CA382826369 | KMT2A | c.3694T>G (p.Trp1232Gly) c.1177T>G (p.Trp393Gly) c.1078T>G (p.Trp360Gly) c.1402T>G (p.Trp468Gly) c.576T>G c.3595T>G (p.Trp1199Gly) c.847T>G (p.Trp283Gly) c.2365T>G (p.Trp789Gly) c.1501T>G (p.Trp501Gly) | |
11 | g.118480199T= | CA2003512003 | KMT2A | c.3694T= (p.Trp1232=) c.1177T= (p.Trp393=) c.1078T= (p.Trp360=) c.1402T= (p.Trp468=) c.576T= c.3595T= (p.Trp1199=) c.847T= (p.Trp283=) c.2365T= (p.Trp789=) c.1501T= (p.Trp501=) | |
11 | g.118480200G>A | CA382826372 | KMT2A | c.3695G>A (p.Trp1232Ter) c.1178G>A (p.Trp393Ter) c.1079G>A (p.Trp360Ter) c.1403G>A (p.Trp468Ter) c.577G>A c.3596G>A (p.Trp1199Ter) c.848G>A (p.Trp283Ter) c.2366G>A (p.Trp789Ter) c.1502G>A (p.Trp501Ter) | |
11 | g.118480200G>C | CA382826375 | KMT2A | c.3695G>C (p.Trp1232Ser) c.1178G>C (p.Trp393Ser) c.1079G>C (p.Trp360Ser) c.1403G>C (p.Trp468Ser) c.577G>C c.3596G>C (p.Trp1199Ser) c.848G>C (p.Trp283Ser) c.2366G>C (p.Trp789Ser) c.1502G>C (p.Trp501Ser) | |
11 | g.118480200G>T | CA382826377 | KMT2A | c.3695G>T (p.Trp1232Leu) c.1178G>T (p.Trp393Leu) c.1079G>T (p.Trp360Leu) c.1403G>T (p.Trp468Leu) c.577G>T c.3596G>T (p.Trp1199Leu) c.848G>T (p.Trp283Leu) c.2366G>T (p.Trp789Leu) c.1502G>T (p.Trp501Leu) | |
11 | g.118480201G>A | CA382826380 | KMT2A | c.3696G>A (p.Trp1232Ter) c.1179G>A (p.Trp393Ter) c.1080G>A (p.Trp360Ter) c.1404G>A (p.Trp468Ter) c.578G>A c.3597G>A (p.Trp1199Ter) c.849G>A (p.Trp283Ter) c.2367G>A (p.Trp789Ter) c.1503G>A (p.Trp501Ter) | |
11 | g.118480201G>C | CA382826381 | KMT2A | c.3696G>C (p.Trp1232Cys) c.1179G>C (p.Trp393Cys) c.1080G>C (p.Trp360Cys) c.1404G>C (p.Trp468Cys) c.578G>C c.3597G>C (p.Trp1199Cys) c.849G>C (p.Trp283Cys) c.2367G>C (p.Trp789Cys) c.1503G>C (p.Trp501Cys) | |
11 | g.118480201G>T | CA382826383 | KMT2A | c.3696G>T (p.Trp1232Cys) c.1179G>T (p.Trp393Cys) c.1080G>T (p.Trp360Cys) c.1404G>T (p.Trp468Cys) c.578G>T c.3597G>T (p.Trp1199Cys) c.849G>T (p.Trp283Cys) c.2367G>T (p.Trp789Cys) c.1503G>T (p.Trp501Cys) | |
11 | g.118480202A>C | CA382826385 | KMT2A | c.3697A>C (p.Met1233Leu) c.1180A>C (p.Met394Leu) c.1081A>C (p.Met361Leu) c.1405A>C (p.Met469Leu) c.579A>C c.3598A>C (p.Met1200Leu) c.850A>C (p.Met284Leu) c.2368A>C (p.Met790Leu) c.1504A>C (p.Met502Leu) | |
11 | g.118480202A>G | CA382826388 | KMT2A | c.3697A>G (p.Met1233Val) c.1180A>G (p.Met394Val) c.1081A>G (p.Met361Val) c.1405A>G (p.Met469Val) c.579A>G c.3598A>G (p.Met1200Val) c.850A>G (p.Met284Val) c.2368A>G (p.Met790Val) c.1504A>G (p.Met502Val) | |
11 | g.118480202A>T | CA382826390 | KMT2A | c.3697A>T (p.Met1233Leu) c.1180A>T (p.Met394Leu) c.1081A>T (p.Met361Leu) c.1405A>T (p.Met469Leu) c.579A>T c.3598A>T (p.Met1200Leu) c.850A>T (p.Met284Leu) c.2368A>T (p.Met790Leu) c.1504A>T (p.Met502Leu) | |
11 | g.118480203T>A | CA382826394 | KMT2A | c.3698T>A (p.Met1233Lys) c.1181T>A (p.Met394Lys) c.1082T>A (p.Met361Lys) c.1406T>A (p.Met469Lys) c.580T>A c.3599T>A (p.Met1200Lys) c.851T>A (p.Met284Lys) c.2369T>A (p.Met790Lys) c.1505T>A (p.Met502Lys) | |
11 | g.118480203T>C | CA382826396 | KMT2A | c.3698T>C (p.Met1233Thr) c.1181T>C (p.Met394Thr) c.1082T>C (p.Met361Thr) c.1406T>C (p.Met469Thr) c.580T>C c.3599T>C (p.Met1200Thr) c.851T>C (p.Met284Thr) c.2369T>C (p.Met790Thr) c.1505T>C (p.Met502Thr) | |
11 | g.118480203T>G | CA382826392 | KMT2A | c.3698T>G (p.Met1233Arg) c.1181T>G (p.Met394Arg) c.1082T>G (p.Met361Arg) c.1406T>G (p.Met469Arg) c.580T>G c.3599T>G (p.Met1200Arg) c.851T>G (p.Met284Arg) c.2369T>G (p.Met790Arg) c.1505T>G (p.Met502Arg) | |
11 | g.118480204G>A | CA382826399 | KMT2A | c.3699G>A (p.Met1233Ile) c.1182G>A (p.Met394Ile) c.1083G>A (p.Met361Ile) c.1407G>A (p.Met469Ile) c.581G>A c.3600G>A (p.Met1200Ile) c.852G>A (p.Met284Ile) c.2370G>A (p.Met790Ile) c.1506G>A (p.Met502Ile) | |
11 | g.118480204G>C | CA382826401 | KMT2A | c.3699G>C (p.Met1233Ile) c.1182G>C (p.Met394Ile) c.1083G>C (p.Met361Ile) c.1407G>C (p.Met469Ile) c.581G>C c.3600G>C (p.Met1200Ile) c.852G>C (p.Met284Ile) c.2370G>C (p.Met790Ile) c.1506G>C (p.Met502Ile) | |
11 | g.118480204G>T | CA382826403 | KMT2A | c.3699G>T (p.Met1233Ile) c.1182G>T (p.Met394Ile) c.1083G>T (p.Met361Ile) c.1407G>T (p.Met469Ile) c.581G>T c.3600G>T (p.Met1200Ile) c.852G>T (p.Met284Ile) c.2370G>T (p.Met790Ile) c.1506G>T (p.Met502Ile) | |
11 | g.118480205C>A | CA382826404 | KMT2A | c.3700C>A (p.Pro1234Thr) c.1183C>A (p.Pro395Thr) c.1084C>A (p.Pro362Thr) c.1408C>A (p.Pro470Thr) c.582C>A c.3601C>A (p.Pro1201Thr) c.853C>A (p.Pro285Thr) c.2371C>A (p.Pro791Thr) c.1507C>A (p.Pro503Thr) | gnomAD v4 |
11 | g.118480205C= | CA2003512005 | KMT2A | c.3700C= (p.Pro1234=) c.1183C= (p.Pro395=) c.1084C= (p.Pro362=) c.1408C= (p.Pro470=) c.582C= c.3601C= (p.Pro1201=) c.853C= (p.Pro285=) c.2371C= (p.Pro791=) c.1507C= (p.Pro503=) | |
11 | g.118480205C>G | CA6303682 | KMT2A | c.3700C>G (p.Pro1234Ala) c.1183C>G (p.Pro395Ala) c.1084C>G (p.Pro362Ala) c.1408C>G (p.Pro470Ala) c.582C>G c.3601C>G (p.Pro1201Ala) c.853C>G (p.Pro285Ala) c.2371C>G (p.Pro791Ala) c.1507C>G (p.Pro503Ala) | dbSNP ExAC gnomAD v2 |
11 | g.118480205C>T | CA382826405 | KMT2A | c.3700C>T (p.Pro1234Ser) c.1183C>T (p.Pro395Ser) c.1084C>T (p.Pro362Ser) c.1408C>T (p.Pro470Ser) c.582C>T c.3601C>T (p.Pro1201Ser) c.853C>T (p.Pro285Ser) c.2371C>T (p.Pro791Ser) c.1507C>T (p.Pro503Ser) | |
11 | g.118480206C>A | CA382826406 | KMT2A | c.3701C>A (p.Pro1234His) c.1184C>A (p.Pro395His) c.1085C>A (p.Pro362His) c.1409C>A (p.Pro470His) c.583C>A c.3602C>A (p.Pro1201His) c.854C>A (p.Pro285His) c.2372C>A (p.Pro791His) c.1508C>A (p.Pro503His) | |
11 | g.118480206C>G | CA382826407 | KMT2A | c.3701C>G (p.Pro1234Arg) c.1184C>G (p.Pro395Arg) c.1085C>G (p.Pro362Arg) c.1409C>G (p.Pro470Arg) c.583C>G c.3602C>G (p.Pro1201Arg) c.854C>G (p.Pro285Arg) c.2372C>G (p.Pro791Arg) c.1508C>G (p.Pro503Arg) | |
11 | g.118480206C>T | CA382826408 | KMT2A | c.3701C>T (p.Pro1234Leu) c.1184C>T (p.Pro395Leu) c.1085C>T (p.Pro362Leu) c.1409C>T (p.Pro470Leu) c.583C>T c.3602C>T (p.Pro1201Leu) c.854C>T (p.Pro285Leu) c.2372C>T (p.Pro791Leu) c.1508C>T (p.Pro503Leu) | |
11 | g.118480207T>A | CA477088728 | KMT2A | c.3702T>A (p.Pro1234=) c.1185T>A (p.Pro395=) c.1086T>A (p.Pro362=) c.1410T>A (p.Pro470=) c.584T>A c.3603T>A (p.Pro1201=) c.855T>A (p.Pro285=) c.2373T>A (p.Pro791=) c.1509T>A (p.Pro503=) | |
11 | g.118480207T>C | CA477088730 | KMT2A | c.3702T>C (p.Pro1234=) c.1185T>C (p.Pro395=) c.1086T>C (p.Pro362=) c.1410T>C (p.Pro470=) c.584T>C c.3603T>C (p.Pro1201=) c.855T>C (p.Pro285=) c.2373T>C (p.Pro791=) c.1509T>C (p.Pro503=) | |
11 | g.118480207T>G | CA477088729 | KMT2A | c.3702T>G (p.Pro1234=) c.1185T>G (p.Pro395=) c.1086T>G (p.Pro362=) c.1410T>G (p.Pro470=) c.584T>G c.3603T>G (p.Pro1201=) c.855T>G (p.Pro285=) c.2373T>G (p.Pro791=) c.1509T>G (p.Pro503=) | |
11 | g.118480208del | CA2695215647 | KMT2A | c.3703del (p.Ser1235ProfsTer12) c.1186del (p.Ser396ProfsTer12) c.1087del (p.Ser363ProfsTer12) c.1411del (p.Ser471ProfsTer12) c.585del c.3604del (p.Ser1202ProfsTer12) c.856del (p.Ser286ProfsTer12) c.2374del (p.Ser792ProfsTer12) c.1510del (p.Ser504ProfsTer12) | |
11 | g.118480208T>A | CA382826411 | KMT2A | c.3703T>A (p.Ser1235Thr) c.1186T>A (p.Ser396Thr) c.1087T>A (p.Ser363Thr) c.1411T>A (p.Ser471Thr) c.585T>A c.3604T>A (p.Ser1202Thr) c.856T>A (p.Ser286Thr) c.2374T>A (p.Ser792Thr) c.1510T>A (p.Ser504Thr) | |
11 | g.118480208T>C | CA382826413 | KMT2A | c.3703T>C (p.Ser1235Pro) c.1186T>C (p.Ser396Pro) c.1087T>C (p.Ser363Pro) c.1411T>C (p.Ser471Pro) c.585T>C c.3604T>C (p.Ser1202Pro) c.856T>C (p.Ser286Pro) c.2374T>C (p.Ser792Pro) c.1510T>C (p.Ser504Pro) | |
11 | g.118480208T>G | CA382826414 | KMT2A | c.3703T>G (p.Ser1235Ala) c.1186T>G (p.Ser396Ala) c.1087T>G (p.Ser363Ala) c.1411T>G (p.Ser471Ala) c.585T>G c.3604T>G (p.Ser1202Ala) c.856T>G (p.Ser286Ala) c.2374T>G (p.Ser792Ala) c.1510T>G (p.Ser504Ala) | |
11 | g.118480209C>A | CA382826416 | KMT2A | c.3704C>A (p.Ser1235Tyr) c.1187C>A (p.Ser396Tyr) c.1088C>A (p.Ser363Tyr) c.1412C>A (p.Ser471Tyr) c.586C>A c.3605C>A (p.Ser1202Tyr) c.857C>A (p.Ser286Tyr) c.2375C>A (p.Ser792Tyr) c.1511C>A (p.Ser504Tyr) | |
11 | g.118480209C= | CA2003512008 | KMT2A | c.3704C= (p.Ser1235=) c.1187C= (p.Ser396=) c.1088C= (p.Ser363=) c.1412C= (p.Ser471=) c.586C= c.3605C= (p.Ser1202=) c.857C= (p.Ser286=) c.2375C= (p.Ser792=) c.1511C= (p.Ser504=) | |
11 | g.118480209C>G | CA6303683 | KMT2A | c.3704C>G (p.Ser1235Cys) c.1187C>G (p.Ser396Cys) c.1088C>G (p.Ser363Cys) c.1412C>G (p.Ser471Cys) c.586C>G c.3605C>G (p.Ser1202Cys) c.857C>G (p.Ser286Cys) c.2375C>G (p.Ser792Cys) c.1511C>G (p.Ser504Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.118480209C>T | CA382826415 | KMT2A | c.3704C>T (p.Ser1235Phe) c.1187C>T (p.Ser396Phe) c.1088C>T (p.Ser363Phe) c.1412C>T (p.Ser471Phe) c.586C>T c.3605C>T (p.Ser1202Phe) c.857C>T (p.Ser286Phe) c.2375C>T (p.Ser792Phe) c.1511C>T (p.Ser504Phe) | |
11 | g.118480210C>A | CA477088731 | KMT2A | c.3705C>A (p.Ser1235=) c.1188C>A (p.Ser396=) c.1089C>A (p.Ser363=) c.1413C>A (p.Ser471=) c.587C>A c.3606C>A (p.Ser1202=) c.858C>A (p.Ser286=) c.2376C>A (p.Ser792=) c.1512C>A (p.Ser504=) | |
11 | g.118480210C>G | CA477088732 | KMT2A | c.3705C>G (p.Ser1235=) c.1188C>G (p.Ser396=) c.1089C>G (p.Ser363=) c.1413C>G (p.Ser471=) c.587C>G c.3606C>G (p.Ser1202=) c.858C>G (p.Ser286=) c.2376C>G (p.Ser792=) c.1512C>G (p.Ser504=) | |
11 | g.118480210C>T | CA477088733 | KMT2A | c.3705C>T (p.Ser1235=) c.1188C>T (p.Ser396=) c.1089C>T (p.Ser363=) c.1413C>T (p.Ser471=) c.587C>T c.3606C>T (p.Ser1202=) c.858C>T (p.Ser286=) c.2376C>T (p.Ser792=) c.1512C>T (p.Ser504=) | |
11 | g.118480211A= | CA2003512009 | KMT2A | c.3706A= (p.Lys1236=) c.1189A= (p.Lys397=) c.1090A= (p.Lys364=) c.1414A= (p.Lys472=) c.588A= c.3607A= (p.Lys1203=) c.859A= (p.Lys287=) c.2377A= (p.Lys793=) c.1513A= (p.Lys505=) | |
11 | g.118480211A>C | CA229527124 | KMT2A | c.3706A>C (p.Lys1236Gln) c.1189A>C (p.Lys397Gln) c.1090A>C (p.Lys364Gln) c.1414A>C (p.Lys472Gln) c.588A>C c.3607A>C (p.Lys1203Gln) c.859A>C (p.Lys287Gln) c.2377A>C (p.Lys793Gln) c.1513A>C (p.Lys505Gln) | dbSNP |
11 | g.118480211A>G | CA382826418 | KMT2A | c.3706A>G (p.Lys1236Glu) c.1189A>G (p.Lys397Glu) c.1090A>G (p.Lys364Glu) c.1414A>G (p.Lys472Glu) c.588A>G c.3607A>G (p.Lys1203Glu) c.859A>G (p.Lys287Glu) c.2377A>G (p.Lys793Glu) c.1513A>G (p.Lys505Glu) | |
11 | g.118480211A>T | CA382826427 | KMT2A | c.3706A>T (p.Lys1236Ter) c.1189A>T (p.Lys397Ter) c.1090A>T (p.Lys364Ter) c.1414A>T (p.Lys472Ter) c.588A>T c.3607A>T (p.Lys1203Ter) c.859A>T (p.Lys287Ter) c.2377A>T (p.Lys793Ter) c.1513A>T (p.Lys505Ter) | |
11 | g.118480212A>C | CA382826430 | KMT2A | c.3707A>C (p.Lys1236Thr) c.1190A>C (p.Lys397Thr) c.1091A>C (p.Lys364Thr) c.1415A>C (p.Lys472Thr) c.589A>C c.3608A>C (p.Lys1203Thr) c.860A>C (p.Lys287Thr) c.2378A>C (p.Lys793Thr) c.1514A>C (p.Lys505Thr) | |
11 | g.118480212A>G | CA382826432 | KMT2A | c.3707A>G (p.Lys1236Arg) c.1190A>G (p.Lys397Arg) c.1091A>G (p.Lys364Arg) c.1415A>G (p.Lys472Arg) c.589A>G c.3608A>G (p.Lys1203Arg) c.860A>G (p.Lys287Arg) c.2378A>G (p.Lys793Arg) c.1514A>G (p.Lys505Arg) | |
11 | g.118480212A>T | CA382826434 | KMT2A | c.3707A>T (p.Lys1236Ile) c.1190A>T (p.Lys397Ile) c.1091A>T (p.Lys364Ile) c.1415A>T (p.Lys472Ile) c.589A>T c.3608A>T (p.Lys1203Ile) c.860A>T (p.Lys287Ile) c.2378A>T (p.Lys793Ile) c.1514A>T (p.Lys505Ile) | |
11 | g.118480213A>C | CA382826445 | KMT2A | c.3708A>C (p.Lys1236Asn) c.1191A>C (p.Lys397Asn) c.1092A>C (p.Lys364Asn) c.1416A>C (p.Lys472Asn) c.590A>C c.3609A>C (p.Lys1203Asn) c.861A>C (p.Lys287Asn) c.2379A>C (p.Lys793Asn) c.1515A>C (p.Lys505Asn) | |
11 | g.118480213A>G | CA477088736 | KMT2A | c.3708A>G (p.Lys1236=) c.1191A>G (p.Lys397=) c.1092A>G (p.Lys364=) c.1416A>G (p.Lys472=) c.590A>G c.3609A>G (p.Lys1203=) c.861A>G (p.Lys287=) c.2379A>G (p.Lys793=) c.1515A>G (p.Lys505=) | |
11 | g.118480213A>T | CA382826439 | KMT2A | c.3708A>T (p.Lys1236Asn) c.1191A>T (p.Lys397Asn) c.1092A>T (p.Lys364Asn) c.1416A>T (p.Lys472Asn) c.590A>T c.3609A>T (p.Lys1203Asn) c.861A>T (p.Lys287Asn) c.2379A>T (p.Lys793Asn) c.1515A>T (p.Lys505Asn) |