Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
 ClinVar 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
11g.118480211A>GCA382826418KMT2Ac.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)
11g.118480211A>TCA382826427KMT2Ac.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)
11g.118480212A>CCA382826430KMT2Ac.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)
11g.118480212A>GCA382826432KMT2Ac.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)
11g.118480212A>TCA382826434KMT2Ac.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)
11g.118480213A>CCA382826445KMT2Ac.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)
11g.118480213A>GCA477088736KMT2Ac.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=)
11g.118480213A>TCA382826439KMT2Ac.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)
11g.118480214G>ACA382826447KMT2Ac.3709G>A (p.Ala1237Thr)
c.1192G>A (p.Ala398Thr)
c.1093G>A (p.Ala365Thr)
c.1417G>A (p.Ala473Thr)
c.591G>A
c.3610G>A (p.Ala1204Thr)
c.862G>A (p.Ala288Thr)
c.2380G>A (p.Ala794Thr)
c.1516G>A (p.Ala506Thr)
11g.118480214G>CCA382826450KMT2Ac.3709G>C (p.Ala1237Pro)
c.1192G>C (p.Ala398Pro)
c.1093G>C (p.Ala365Pro)
c.1417G>C (p.Ala473Pro)
c.591G>C
c.3610G>C (p.Ala1204Pro)
c.862G>C (p.Ala288Pro)
c.2380G>C (p.Ala794Pro)
c.1516G>C (p.Ala506Pro)
11g.118480214G>TCA382826456KMT2Ac.3709G>T (p.Ala1237Ser)
c.1192G>T (p.Ala398Ser)
c.1093G>T (p.Ala365Ser)
c.1417G>T (p.Ala473Ser)
c.591G>T
c.3610G>T (p.Ala1204Ser)
c.862G>T (p.Ala288Ser)
c.2380G>T (p.Ala794Ser)
c.1516G>T (p.Ala506Ser)
11g.118480215C>ACA382826457KMT2Ac.3710C>A (p.Ala1237Asp)
c.1193C>A (p.Ala398Asp)
c.1094C>A (p.Ala365Asp)
c.1418C>A (p.Ala473Asp)
c.592C>A
c.3611C>A (p.Ala1204Asp)
c.863C>A (p.Ala288Asp)
c.2381C>A (p.Ala794Asp)
c.1517C>A (p.Ala506Asp)
 ClinVar gnomAD v4
11g.118480215C=CA2003512011KMT2Ac.3710C= (p.Ala1237=)
c.1193C= (p.Ala398=)
c.1094C= (p.Ala365=)
c.1418C= (p.Ala473=)
c.592C=
c.3611C= (p.Ala1204=)
c.863C= (p.Ala288=)
c.2381C= (p.Ala794=)
c.1517C= (p.Ala506=)
11g.118480215C>GCA382826459KMT2Ac.3710C>G (p.Ala1237Gly)
c.1193C>G (p.Ala398Gly)
c.1094C>G (p.Ala365Gly)
c.1418C>G (p.Ala473Gly)
c.592C>G
c.3611C>G (p.Ala1204Gly)
c.863C>G (p.Ala288Gly)
c.2381C>G (p.Ala794Gly)
c.1517C>G (p.Ala506Gly)
11g.118480215C>TCA382826460KMT2Ac.3710C>T (p.Ala1237Val)
c.1193C>T (p.Ala398Val)
c.1094C>T (p.Ala365Val)
c.1418C>T (p.Ala473Val)
c.592C>T
c.3611C>T (p.Ala1204Val)
c.863C>T (p.Ala288Val)
c.2381C>T (p.Ala794Val)
c.1517C>T (p.Ala506Val)
 dbSNP
11g.118480216C>ACA477088737KMT2Ac.3711C>A (p.Ala1237=)
c.1194C>A (p.Ala398=)
c.1095C>A (p.Ala365=)
c.1419C>A (p.Ala473=)
c.593C>A
c.3612C>A (p.Ala1204=)
c.864C>A (p.Ala288=)
c.2382C>A (p.Ala794=)
c.1518C>A (p.Ala506=)
11g.118480216C>GCA477088738KMT2Ac.3711C>G (p.Ala1237=)
c.1194C>G (p.Ala398=)
c.1095C>G (p.Ala365=)
c.1419C>G (p.Ala473=)
c.593C>G
c.3612C>G (p.Ala1204=)
c.864C>G (p.Ala288=)
c.2382C>G (p.Ala794=)
c.1518C>G (p.Ala506=)
11g.118480216C>TCA477088740KMT2Ac.3711C>T (p.Ala1237=)
c.1194C>T (p.Ala398=)
c.1095C>T (p.Ala365=)
c.1419C>T (p.Ala473=)
c.593C>T
c.3612C>T (p.Ala1204=)
c.864C>T (p.Ala288=)
c.2382C>T (p.Ala794=)
c.1518C>T (p.Ala506=)
11g.118480216_118480220delinsTCA2695215648KMT2Ac.3711_3715delinsT (p.Tyr1238CysfsTer8)
c.1194_1198delinsT (p.Tyr399CysfsTer8)
c.1095_1099delinsT (p.Tyr366CysfsTer8)
c.1419_1423delinsT (p.Tyr474CysfsTer8)
c.593_597delinsT
c.3612_3616delinsT (p.Tyr1205CysfsTer8)
c.864_868delinsT (p.Tyr289CysfsTer8)
c.2382_2386delinsT (p.Tyr795CysfsTer8)
c.1518_1522delinsT (p.Tyr507CysfsTer8)
11g.118480217T>ACA382826465KMT2Ac.3712T>A (p.Tyr1238Asn)
c.1195T>A (p.Tyr399Asn)
c.1096T>A (p.Tyr366Asn)
c.1420T>A (p.Tyr474Asn)
c.594T>A
c.3613T>A (p.Tyr1205Asn)
c.865T>A (p.Tyr289Asn)
c.2383T>A (p.Tyr795Asn)
c.1519T>A (p.Tyr507Asn)
11g.118480217T>CCA229527130KMT2Ac.3712T>C (p.Tyr1238His)
c.1195T>C (p.Tyr399His)
c.1096T>C (p.Tyr366His)
c.1420T>C (p.Tyr474His)
c.594T>C
c.3613T>C (p.Tyr1205His)
c.865T>C (p.Tyr289His)
c.2383T>C (p.Tyr795His)
c.1519T>C (p.Tyr507His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118480217T>GCA382826463KMT2Ac.3712T>G (p.Tyr1238Asp)
c.1195T>G (p.Tyr399Asp)
c.1096T>G (p.Tyr366Asp)
c.1420T>G (p.Tyr474Asp)
c.594T>G
c.3613T>G (p.Tyr1205Asp)
c.865T>G (p.Tyr289Asp)
c.2383T>G (p.Tyr795Asp)
c.1519T>G (p.Tyr507Asp)
11g.118480217T=CA2003512024KMT2Ac.3712T= (p.Tyr1238=)
c.1195T= (p.Tyr399=)
c.1096T= (p.Tyr366=)
c.1420T= (p.Tyr474=)
c.594T=
c.3613T= (p.Tyr1205=)
c.865T= (p.Tyr289=)
c.2383T= (p.Tyr795=)
c.1519T= (p.Tyr507=)
11g.118480218A>CCA382826468KMT2Ac.3713A>C (p.Tyr1238Ser)
c.1196A>C (p.Tyr399Ser)
c.1097A>C (p.Tyr366Ser)
c.1421A>C (p.Tyr474Ser)
c.595A>C
c.3614A>C (p.Tyr1205Ser)
c.866A>C (p.Tyr289Ser)
c.2384A>C (p.Tyr795Ser)
c.1520A>C (p.Tyr507Ser)
11g.118480218A>GCA382826473KMT2Ac.3713A>G (p.Tyr1238Cys)
c.1196A>G (p.Tyr399Cys)
c.1097A>G (p.Tyr366Cys)
c.1421A>G (p.Tyr474Cys)
c.595A>G
c.3614A>G (p.Tyr1205Cys)
c.866A>G (p.Tyr289Cys)
c.2384A>G (p.Tyr795Cys)
c.1520A>G (p.Tyr507Cys)
11g.118480218A>TCA382826472KMT2Ac.3713A>T (p.Tyr1238Phe)
c.1196A>T (p.Tyr399Phe)
c.1097A>T (p.Tyr366Phe)
c.1421A>T (p.Tyr474Phe)
c.595A>T
c.3614A>T (p.Tyr1205Phe)
c.866A>T (p.Tyr289Phe)
c.2384A>T (p.Tyr795Phe)
c.1520A>T (p.Tyr507Phe)
11g.118480219C>ACA382826474KMT2Ac.3714C>A (p.Tyr1238Ter)
c.1197C>A (p.Tyr399Ter)
c.1098C>A (p.Tyr366Ter)
c.1422C>A (p.Tyr474Ter)
c.596C>A
c.3615C>A (p.Tyr1205Ter)
c.867C>A (p.Tyr289Ter)
c.2385C>A (p.Tyr795Ter)
c.1521C>A (p.Tyr507Ter)
 ClinVar

Number of alleles fetched