Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118480197A=CA2003511998KMT2Ac.3692A= (p.Gln1231=)
c.1175A= (p.Gln392=)
c.1076A= (p.Gln359=)
c.1400A= (p.Gln467=)
c.574A=
c.3593A= (p.Gln1198=)
c.845A= (p.Gln282=)
c.2363A= (p.Gln788=)
c.1499A= (p.Gln500=)
11g.118480197A>CCA229527109KMT2Ac.3692A>C (p.Gln1231Pro)
c.1175A>C (p.Gln392Pro)
c.1076A>C (p.Gln359Pro)
c.1400A>C (p.Gln467Pro)
c.574A>C
c.3593A>C (p.Gln1198Pro)
c.845A>C (p.Gln282Pro)
c.2363A>C (p.Gln788Pro)
c.1499A>C (p.Gln500Pro)
dbSNP
11g.118480197A>GCA382826351KMT2Ac.3692A>G (p.Gln1231Arg)
c.1175A>G (p.Gln392Arg)
c.1076A>G (p.Gln359Arg)
c.1400A>G (p.Gln467Arg)
c.574A>G
c.3593A>G (p.Gln1198Arg)
c.845A>G (p.Gln282Arg)
c.2363A>G (p.Gln788Arg)
c.1499A>G (p.Gln500Arg)
11g.118480197A>TCA382826354KMT2Ac.3692A>T (p.Gln1231Leu)
c.1175A>T (p.Gln392Leu)
c.1076A>T (p.Gln359Leu)
c.1400A>T (p.Gln467Leu)
c.574A>T
c.3593A>T (p.Gln1198Leu)
c.845A>T (p.Gln282Leu)
c.2363A>T (p.Gln788Leu)
c.1499A>T (p.Gln500Leu)
11g.118480198A=CA2003512000KMT2Ac.3693A= (p.Gln1231=)
c.1176A= (p.Gln392=)
c.1077A= (p.Gln359=)
c.1401A= (p.Gln467=)
c.575A=
c.3594A= (p.Gln1198=)
c.846A= (p.Gln282=)
c.2364A= (p.Gln788=)
c.1500A= (p.Gln500=)
11g.118480198A>CCA382826359KMT2Ac.3693A>C (p.Gln1231His)
c.1176A>C (p.Gln392His)
c.1077A>C (p.Gln359His)
c.1401A>C (p.Gln467His)
c.575A>C
c.3594A>C (p.Gln1198His)
c.846A>C (p.Gln282His)
c.2364A>C (p.Gln788His)
c.1500A>C (p.Gln500His)
11g.118480198A>GCA229527115KMT2Ac.3693A>G (p.Gln1231=)
c.1176A>G (p.Gln392=)
c.1077A>G (p.Gln359=)
c.1401A>G (p.Gln467=)
c.575A>G
c.3594A>G (p.Gln1198=)
c.846A>G (p.Gln282=)
c.2364A>G (p.Gln788=)
c.1500A>G (p.Gln500=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480198A>TCA382826357KMT2Ac.3693A>T (p.Gln1231His)
c.1176A>T (p.Gln392His)
c.1077A>T (p.Gln359His)
c.1401A>T (p.Gln467His)
c.575A>T
c.3594A>T (p.Gln1198His)
c.846A>T (p.Gln282His)
c.2364A>T (p.Gln788His)
c.1500A>T (p.Gln500His)
11g.118480199T>ACA382826363KMT2Ac.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)
11g.118480199T>CCA382826365KMT2Ac.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
11g.118480199T>GCA382826369KMT2Ac.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)
11g.118480199T=CA2003512003KMT2Ac.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=)
11g.118480200G>ACA382826372KMT2Ac.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)
11g.118480200G>CCA382826375KMT2Ac.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)
11g.118480200G>TCA382826377KMT2Ac.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)
11g.118480201G>ACA382826380KMT2Ac.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)
11g.118480201G>CCA382826381KMT2Ac.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)
11g.118480201G>TCA382826383KMT2Ac.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)
11g.118480202A>CCA382826385KMT2Ac.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)
11g.118480202A>GCA382826388KMT2Ac.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)
11g.118480202A>TCA382826390KMT2Ac.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)
11g.118480203T>ACA382826394KMT2Ac.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)
11g.118480203T>CCA382826396KMT2Ac.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)
11g.118480203T>GCA382826392KMT2Ac.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)
11g.118480204G>ACA382826399KMT2Ac.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)
11g.118480204G>CCA382826401KMT2Ac.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)
11g.118480204G>TCA382826403KMT2Ac.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)
11g.118480205C>ACA382826404KMT2Ac.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
11g.118480205C=CA2003512005KMT2Ac.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=)
11g.118480205C>GCA6303682KMT2Ac.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
11g.118480205C>TCA382826405KMT2Ac.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)
11g.118480206C>ACA382826406KMT2Ac.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)
11g.118480206C>GCA382826407KMT2Ac.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)
11g.118480206C>TCA382826408KMT2Ac.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)
11g.118480207T>ACA477088728KMT2Ac.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=)
11g.118480207T>CCA477088730KMT2Ac.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=)
11g.118480207T>GCA477088729KMT2Ac.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=)
11g.118480208delCA2695215647KMT2Ac.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)
11g.118480208T>ACA382826411KMT2Ac.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)
11g.118480208T>CCA382826413KMT2Ac.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)
11g.118480208T>GCA382826414KMT2Ac.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)
11g.118480209C>ACA382826416KMT2Ac.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)
11g.118480209C=CA2003512008KMT2Ac.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=)
11g.118480209C>GCA6303683KMT2Ac.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)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480209C>TCA382826415KMT2Ac.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)
11g.118480210C>ACA477088731KMT2Ac.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=)
11g.118480210C>GCA477088732KMT2Ac.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=)
11g.118480210C>TCA477088733KMT2Ac.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=)
11g.118480211A=CA2003512009KMT2Ac.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=)
11g.118480211A>CCA229527124KMT2Ac.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

Number of alleles fetched