Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503315G>ACA382805513KMT2Ac.7522G>A (p.Glu2508Lys)
c.7513G>A (p.Glu2505Lys)
c.1462G>A (p.Glu488Lys)
c.1720G>A (p.Glu574Lys)
c.7495G>A (p.Glu2499Lys)
c.7414G>A (p.Glu2472Lys)
n.6765G>A
c.7423G>A (p.Glu2475Lys)
c.7300G>A (p.Glu2434Lys)
n.1550G>A
c.4906G>A (p.Glu1636Lys)
c.7519G>A (p.Glu2507Lys)
c.5329G>A (p.Glu1777Lys)
c.5005G>A (p.Glu1669Lys)
11g.118503315G>CCA382805512KMT2Ac.7522G>C (p.Glu2508Gln)
c.7513G>C (p.Glu2505Gln)
c.1462G>C (p.Glu488Gln)
c.1720G>C (p.Glu574Gln)
c.7495G>C (p.Glu2499Gln)
c.7414G>C (p.Glu2472Gln)
n.6765G>C
c.7423G>C (p.Glu2475Gln)
c.7300G>C (p.Glu2434Gln)
n.1550G>C
c.4906G>C (p.Glu1636Gln)
c.7519G>C (p.Glu2507Gln)
c.5329G>C (p.Glu1777Gln)
c.5005G>C (p.Glu1669Gln)
11g.118503315G>TCA382805511KMT2Ac.7522G>T (p.Glu2508Ter)
c.7513G>T (p.Glu2505Ter)
c.1462G>T (p.Glu488Ter)
c.1720G>T (p.Glu574Ter)
c.7495G>T (p.Glu2499Ter)
c.7414G>T (p.Glu2472Ter)
n.6765G>T
c.7423G>T (p.Glu2475Ter)
c.7300G>T (p.Glu2434Ter)
n.1550G>T
c.4906G>T (p.Glu1636Ter)
c.7519G>T (p.Glu2507Ter)
c.5329G>T (p.Glu1777Ter)
c.5005G>T (p.Glu1669Ter)
11g.118503316A>CCA382805516KMT2Ac.7523A>C (p.Glu2508Ala)
c.7514A>C (p.Glu2505Ala)
c.1463A>C (p.Glu488Ala)
c.1721A>C (p.Glu574Ala)
c.7496A>C (p.Glu2499Ala)
c.7415A>C (p.Glu2472Ala)
n.6766A>C
c.7424A>C (p.Glu2475Ala)
c.7301A>C (p.Glu2434Ala)
n.1551A>C
c.4907A>C (p.Glu1636Ala)
c.7520A>C (p.Glu2507Ala)
c.5330A>C (p.Glu1777Ala)
c.5006A>C (p.Glu1669Ala)
 gnomAD v4
11g.118503316A>GCA382805517KMT2Ac.7523A>G (p.Glu2508Gly)
c.7514A>G (p.Glu2505Gly)
c.1463A>G (p.Glu488Gly)
c.1721A>G (p.Glu574Gly)
c.7496A>G (p.Glu2499Gly)
c.7415A>G (p.Glu2472Gly)
n.6766A>G
c.7424A>G (p.Glu2475Gly)
c.7301A>G (p.Glu2434Gly)
n.1551A>G
c.4907A>G (p.Glu1636Gly)
c.7520A>G (p.Glu2507Gly)
c.5330A>G (p.Glu1777Gly)
c.5006A>G (p.Glu1669Gly)
 gnomAD v4
11g.118503316A>TCA382805519KMT2Ac.7523A>T (p.Glu2508Val)
c.7514A>T (p.Glu2505Val)
c.1463A>T (p.Glu488Val)
c.1721A>T (p.Glu574Val)
c.7496A>T (p.Glu2499Val)
c.7415A>T (p.Glu2472Val)
n.6766A>T
c.7424A>T (p.Glu2475Val)
c.7301A>T (p.Glu2434Val)
n.1551A>T
c.4907A>T (p.Glu1636Val)
c.7520A>T (p.Glu2507Val)
c.5330A>T (p.Glu1777Val)
c.5006A>T (p.Glu1669Val)
11g.118503317G>ACA477359425KMT2Ac.7524G>A (p.Glu2508=)
c.7515G>A (p.Glu2505=)
c.1464G>A (p.Glu488=)
c.1722G>A (p.Glu574=)
c.7497G>A (p.Glu2499=)
c.7416G>A (p.Glu2472=)
n.6767G>A
c.7425G>A (p.Glu2475=)
c.7302G>A (p.Glu2434=)
n.1552G>A
c.4908G>A (p.Glu1636=)
c.7521G>A (p.Glu2507=)
c.5331G>A (p.Glu1777=)
c.5007G>A (p.Glu1669=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503317G>CCA382805523KMT2Ac.7524G>C (p.Glu2508Asp)
c.7515G>C (p.Glu2505Asp)
c.1464G>C (p.Glu488Asp)
c.1722G>C (p.Glu574Asp)
c.7497G>C (p.Glu2499Asp)
c.7416G>C (p.Glu2472Asp)
n.6767G>C
c.7425G>C (p.Glu2475Asp)
c.7302G>C (p.Glu2434Asp)
n.1552G>C
c.4908G>C (p.Glu1636Asp)
c.7521G>C (p.Glu2507Asp)
c.5331G>C (p.Glu1777Asp)
c.5007G>C (p.Glu1669Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.118503317G=CA2003527703KMT2Ac.7524G= (p.Glu2508=)
c.7515G= (p.Glu2505=)
c.1464G= (p.Glu488=)
c.1722G= (p.Glu574=)
c.7497G= (p.Glu2499=)
c.7416G= (p.Glu2472=)
n.6767G=
c.7425G= (p.Glu2475=)
c.7302G= (p.Glu2434=)
n.1552G=
c.4908G= (p.Glu1636=)
c.7521G= (p.Glu2507=)
c.5331G= (p.Glu1777=)
c.5007G= (p.Glu1669=)
11g.118503317G>TCA382805524KMT2Ac.7524G>T (p.Glu2508Asp)
c.7515G>T (p.Glu2505Asp)
c.1464G>T (p.Glu488Asp)
c.1722G>T (p.Glu574Asp)
c.7497G>T (p.Glu2499Asp)
c.7416G>T (p.Glu2472Asp)
n.6767G>T
c.7425G>T (p.Glu2475Asp)
c.7302G>T (p.Glu2434Asp)
n.1552G>T
c.4908G>T (p.Glu1636Asp)
c.7521G>T (p.Glu2507Asp)
c.5331G>T (p.Glu1777Asp)
c.5007G>T (p.Glu1669Asp)
11g.118503318T>ACA382805527KMT2Ac.7525T>A (p.Tyr2509Asn)
c.7516T>A (p.Tyr2506Asn)
c.1465T>A (p.Tyr489Asn)
c.1723T>A (p.Tyr575Asn)
c.7498T>A (p.Tyr2500Asn)
c.7417T>A (p.Tyr2473Asn)
n.6768T>A
c.7426T>A (p.Tyr2476Asn)
c.7303T>A (p.Tyr2435Asn)
n.1553T>A
c.4909T>A (p.Tyr1637Asn)
c.7522T>A (p.Tyr2508Asn)
c.5332T>A (p.Tyr1778Asn)
c.5008T>A (p.Tyr1670Asn)
11g.118503318T>CCA382805528KMT2Ac.7525T>C (p.Tyr2509His)
c.7516T>C (p.Tyr2506His)
c.1465T>C (p.Tyr489His)
c.1723T>C (p.Tyr575His)
c.7498T>C (p.Tyr2500His)
c.7417T>C (p.Tyr2473His)
n.6768T>C
c.7426T>C (p.Tyr2476His)
c.7303T>C (p.Tyr2435His)
n.1553T>C
c.4909T>C (p.Tyr1637His)
c.7522T>C (p.Tyr2508His)
c.5332T>C (p.Tyr1778His)
c.5008T>C (p.Tyr1670His)
11g.118503318T>GCA382805530KMT2Ac.7525T>G (p.Tyr2509Asp)
c.7516T>G (p.Tyr2506Asp)
c.1465T>G (p.Tyr489Asp)
c.1723T>G (p.Tyr575Asp)
c.7498T>G (p.Tyr2500Asp)
c.7417T>G (p.Tyr2473Asp)
n.6768T>G
c.7426T>G (p.Tyr2476Asp)
c.7303T>G (p.Tyr2435Asp)
n.1553T>G
c.4909T>G (p.Tyr1637Asp)
c.7522T>G (p.Tyr2508Asp)
c.5332T>G (p.Tyr1778Asp)
c.5008T>G (p.Tyr1670Asp)
11g.118503319A=CA2003527707KMT2Ac.7526A= (p.Tyr2509=)
c.7517A= (p.Tyr2506=)
c.1466A= (p.Tyr489=)
c.1724A= (p.Tyr575=)
c.7499A= (p.Tyr2500=)
c.7418A= (p.Tyr2473=)
n.6769A=
c.7427A= (p.Tyr2476=)
c.7304A= (p.Tyr2435=)
n.1554A=
c.4910A= (p.Tyr1637=)
c.7523A= (p.Tyr2508=)
c.5333A= (p.Tyr1778=)
c.5009A= (p.Tyr1670=)
11g.118503319A>CCA382805532KMT2Ac.7526A>C (p.Tyr2509Ser)
c.7517A>C (p.Tyr2506Ser)
c.1466A>C (p.Tyr489Ser)
c.1724A>C (p.Tyr575Ser)
c.7499A>C (p.Tyr2500Ser)
c.7418A>C (p.Tyr2473Ser)
n.6769A>C
c.7427A>C (p.Tyr2476Ser)
c.7304A>C (p.Tyr2435Ser)
n.1554A>C
c.4910A>C (p.Tyr1637Ser)
c.7523A>C (p.Tyr2508Ser)
c.5333A>C (p.Tyr1778Ser)
c.5009A>C (p.Tyr1670Ser)
11g.118503319A>GCA6304396KMT2Ac.7526A>G (p.Tyr2509Cys)
c.7517A>G (p.Tyr2506Cys)
c.1466A>G (p.Tyr489Cys)
c.1724A>G (p.Tyr575Cys)
c.7499A>G (p.Tyr2500Cys)
c.7418A>G (p.Tyr2473Cys)
n.6769A>G
c.7427A>G (p.Tyr2476Cys)
c.7304A>G (p.Tyr2435Cys)
n.1554A>G
c.4910A>G (p.Tyr1637Cys)
c.7523A>G (p.Tyr2508Cys)
c.5333A>G (p.Tyr1778Cys)
c.5009A>G (p.Tyr1670Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503319A>TCA382805535KMT2Ac.7526A>T (p.Tyr2509Phe)
c.7517A>T (p.Tyr2506Phe)
c.1466A>T (p.Tyr489Phe)
c.1724A>T (p.Tyr575Phe)
c.7499A>T (p.Tyr2500Phe)
c.7418A>T (p.Tyr2473Phe)
n.6769A>T
c.7427A>T (p.Tyr2476Phe)
c.7304A>T (p.Tyr2435Phe)
n.1554A>T
c.4910A>T (p.Tyr1637Phe)
c.7523A>T (p.Tyr2508Phe)
c.5333A>T (p.Tyr1778Phe)
c.5009A>T (p.Tyr1670Phe)
11g.118503320T>ACA382805537KMT2Ac.7527T>A (p.Tyr2509Ter)
c.7518T>A (p.Tyr2506Ter)
c.1467T>A (p.Tyr489Ter)
c.1725T>A (p.Tyr575Ter)
c.7500T>A (p.Tyr2500Ter)
c.7419T>A (p.Tyr2473Ter)
n.6770T>A
c.7428T>A (p.Tyr2476Ter)
c.7305T>A (p.Tyr2435Ter)
n.1555T>A
c.4911T>A (p.Tyr1637Ter)
c.7524T>A (p.Tyr2508Ter)
c.5334T>A (p.Tyr1778Ter)
c.5010T>A (p.Tyr1670Ter)
11g.118503320T>CCA477359426KMT2Ac.7527T>C (p.Tyr2509=)
c.7518T>C (p.Tyr2506=)
c.1467T>C (p.Tyr489=)
c.1725T>C (p.Tyr575=)
c.7500T>C (p.Tyr2500=)
c.7419T>C (p.Tyr2473=)
n.6770T>C
c.7428T>C (p.Tyr2476=)
c.7305T>C (p.Tyr2435=)
n.1555T>C
c.4911T>C (p.Tyr1637=)
c.7524T>C (p.Tyr2508=)
c.5334T>C (p.Tyr1778=)
c.5010T>C (p.Tyr1670=)
11g.118503320T>GCA382805539KMT2Ac.7527T>G (p.Tyr2509Ter)
c.7518T>G (p.Tyr2506Ter)
c.1467T>G (p.Tyr489Ter)
c.1725T>G (p.Tyr575Ter)
c.7500T>G (p.Tyr2500Ter)
c.7419T>G (p.Tyr2473Ter)
n.6770T>G
c.7428T>G (p.Tyr2476Ter)
c.7305T>G (p.Tyr2435Ter)
n.1555T>G
c.4911T>G (p.Tyr1637Ter)
c.7524T>G (p.Tyr2508Ter)
c.5334T>G (p.Tyr1778Ter)
c.5010T>G (p.Tyr1670Ter)
11g.118503321A>CCA382805543KMT2Ac.7528A>C (p.Met2510Leu)
c.7519A>C (p.Met2507Leu)
c.1468A>C (p.Met490Leu)
c.1726A>C (p.Met576Leu)
c.7501A>C (p.Met2501Leu)
c.7420A>C (p.Met2474Leu)
n.6771A>C
c.7429A>C (p.Met2477Leu)
c.7306A>C (p.Met2436Leu)
n.1556A>C
c.4912A>C (p.Met1638Leu)
c.7525A>C (p.Met2509Leu)
c.5335A>C (p.Met1779Leu)
c.5011A>C (p.Met1671Leu)
11g.118503321A>GCA382805545KMT2Ac.7528A>G (p.Met2510Val)
c.7519A>G (p.Met2507Val)
c.1468A>G (p.Met490Val)
c.1726A>G (p.Met576Val)
c.7501A>G (p.Met2501Val)
c.7420A>G (p.Met2474Val)
n.6771A>G
c.7429A>G (p.Met2477Val)
c.7306A>G (p.Met2436Val)
n.1556A>G
c.4912A>G (p.Met1638Val)
c.7525A>G (p.Met2509Val)
c.5335A>G (p.Met1779Val)
c.5011A>G (p.Met1671Val)
 gnomAD v4
11g.118503321A>TCA382805541KMT2Ac.7528A>T (p.Met2510Leu)
c.7519A>T (p.Met2507Leu)
c.1468A>T (p.Met490Leu)
c.1726A>T (p.Met576Leu)
c.7501A>T (p.Met2501Leu)
c.7420A>T (p.Met2474Leu)
n.6771A>T
c.7429A>T (p.Met2477Leu)
c.7306A>T (p.Met2436Leu)
n.1556A>T
c.4912A>T (p.Met1638Leu)
c.7525A>T (p.Met2509Leu)
c.5335A>T (p.Met1779Leu)
c.5011A>T (p.Met1671Leu)
11g.118503322T>ACA382805546KMT2Ac.7529T>A (p.Met2510Lys)
c.7520T>A (p.Met2507Lys)
c.1469T>A (p.Met490Lys)
c.1727T>A (p.Met576Lys)
c.7502T>A (p.Met2501Lys)
c.7421T>A (p.Met2474Lys)
n.6772T>A
c.7430T>A (p.Met2477Lys)
c.7307T>A (p.Met2436Lys)
n.1557T>A
c.4913T>A (p.Met1638Lys)
c.7526T>A (p.Met2509Lys)
c.5336T>A (p.Met1779Lys)
c.5012T>A (p.Met1671Lys)
11g.118503322T>CCA6304397KMT2Ac.7529T>C (p.Met2510Thr)
c.7520T>C (p.Met2507Thr)
c.1469T>C (p.Met490Thr)
c.1727T>C (p.Met576Thr)
c.7502T>C (p.Met2501Thr)
c.7421T>C (p.Met2474Thr)
n.6772T>C
c.7430T>C (p.Met2477Thr)
c.7307T>C (p.Met2436Thr)
n.1557T>C
c.4913T>C (p.Met1638Thr)
c.7526T>C (p.Met2509Thr)
c.5336T>C (p.Met1779Thr)
c.5012T>C (p.Met1671Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503322T>GCA382805548KMT2Ac.7529T>G (p.Met2510Arg)
c.7520T>G (p.Met2507Arg)
c.1469T>G (p.Met490Arg)
c.1727T>G (p.Met576Arg)
c.7502T>G (p.Met2501Arg)
c.7421T>G (p.Met2474Arg)
n.6772T>G
c.7430T>G (p.Met2477Arg)
c.7307T>G (p.Met2436Arg)
n.1557T>G
c.4913T>G (p.Met1638Arg)
c.7526T>G (p.Met2509Arg)
c.5336T>G (p.Met1779Arg)
c.5012T>G (p.Met1671Arg)
 gnomAD v4
11g.118503322T=CA2003527713KMT2Ac.7529T= (p.Met2510=)
c.7520T= (p.Met2507=)
c.1469T= (p.Met490=)
c.1727T= (p.Met576=)
c.7502T= (p.Met2501=)
c.7421T= (p.Met2474=)
n.6772T=
c.7430T= (p.Met2477=)
c.7307T= (p.Met2436=)
n.1557T=
c.4913T= (p.Met1638=)
c.7526T= (p.Met2509=)
c.5336T= (p.Met1779=)
c.5012T= (p.Met1671=)
11g.118503323G>ACA382805550KMT2Ac.7530G>A (p.Met2510Ile)
c.7521G>A (p.Met2507Ile)
c.1470G>A (p.Met490Ile)
c.1728G>A (p.Met576Ile)
c.7503G>A (p.Met2501Ile)
c.7422G>A (p.Met2474Ile)
n.6773G>A
c.7431G>A (p.Met2477Ile)
c.7308G>A (p.Met2436Ile)
n.1558G>A
c.4914G>A (p.Met1638Ile)
c.7527G>A (p.Met2509Ile)
c.5337G>A (p.Met1779Ile)
c.5013G>A (p.Met1671Ile)
11g.118503323G>CCA382805552KMT2Ac.7530G>C (p.Met2510Ile)
c.7521G>C (p.Met2507Ile)
c.1470G>C (p.Met490Ile)
c.1728G>C (p.Met576Ile)
c.7503G>C (p.Met2501Ile)
c.7422G>C (p.Met2474Ile)
n.6773G>C
c.7431G>C (p.Met2477Ile)
c.7308G>C (p.Met2436Ile)
n.1558G>C
c.4914G>C (p.Met1638Ile)
c.7527G>C (p.Met2509Ile)
c.5337G>C (p.Met1779Ile)
c.5013G>C (p.Met1671Ile)
11g.118503323G>TCA382805554KMT2Ac.7530G>T (p.Met2510Ile)
c.7521G>T (p.Met2507Ile)
c.1470G>T (p.Met490Ile)
c.1728G>T (p.Met576Ile)
c.7503G>T (p.Met2501Ile)
c.7422G>T (p.Met2474Ile)
n.6773G>T
c.7431G>T (p.Met2477Ile)
c.7308G>T (p.Met2436Ile)
n.1558G>T
c.4914G>T (p.Met1638Ile)
c.7527G>T (p.Met2509Ile)
c.5337G>T (p.Met1779Ile)
c.5013G>T (p.Met1671Ile)
11g.118503325delCA2574995925KMT2Ac.7532del (p.Gly2511AlafsTer?)
c.7523del (p.Gly2508AlafsTer?)
c.1472del (p.Gly491AlafsTer?)
c.1730del (p.Gly577AlafsTer?)
c.7505del (p.Gly2502AlafsTer?)
c.7424del (p.Gly2475AlafsTer?)
n.6775del
c.7433del (p.Gly2478AlafsTer?)
c.7310del (p.Gly2437AlafsTer?)
n.1560del
c.4916del (p.Gly1639AlafsTer?)
c.7529del (p.Gly2510AlafsTer?)
c.5339del (p.Gly1780AlafsTer?)
c.5015del (p.Gly1672AlafsTer?)
11g.118503324G>ACA382805556KMT2Ac.7531G>A (p.Gly2511Ser)
c.7522G>A (p.Gly2508Ser)
c.1471G>A (p.Gly491Ser)
c.1729G>A (p.Gly577Ser)
c.7504G>A (p.Gly2502Ser)
c.7423G>A (p.Gly2475Ser)
n.6774G>A
c.7432G>A (p.Gly2478Ser)
c.7309G>A (p.Gly2437Ser)
n.1559G>A
c.4915G>A (p.Gly1639Ser)
c.7528G>A (p.Gly2510Ser)
c.5338G>A (p.Gly1780Ser)
c.5014G>A (p.Gly1672Ser)
11g.118503324G>CCA382805557KMT2Ac.7531G>C (p.Gly2511Arg)
c.7522G>C (p.Gly2508Arg)
c.1471G>C (p.Gly491Arg)
c.1729G>C (p.Gly577Arg)
c.7504G>C (p.Gly2502Arg)
c.7423G>C (p.Gly2475Arg)
n.6774G>C
c.7432G>C (p.Gly2478Arg)
c.7309G>C (p.Gly2437Arg)
n.1559G>C
c.4915G>C (p.Gly1639Arg)
c.7528G>C (p.Gly2510Arg)
c.5338G>C (p.Gly1780Arg)
c.5014G>C (p.Gly1672Arg)
 gnomAD v4
11g.118503324G>TCA382805558KMT2Ac.7531G>T (p.Gly2511Cys)
c.7522G>T (p.Gly2508Cys)
c.1471G>T (p.Gly491Cys)
c.1729G>T (p.Gly577Cys)
c.7504G>T (p.Gly2502Cys)
c.7423G>T (p.Gly2475Cys)
n.6774G>T
c.7432G>T (p.Gly2478Cys)
c.7309G>T (p.Gly2437Cys)
n.1559G>T
c.4915G>T (p.Gly1639Cys)
c.7528G>T (p.Gly2510Cys)
c.5338G>T (p.Gly1780Cys)
c.5014G>T (p.Gly1672Cys)
11g.118503325G>ACA382805560KMT2Ac.7532G>A (p.Gly2511Asp)
c.7523G>A (p.Gly2508Asp)
c.1472G>A (p.Gly491Asp)
c.1730G>A (p.Gly577Asp)
c.7505G>A (p.Gly2502Asp)
c.7424G>A (p.Gly2475Asp)
n.6775G>A
c.7433G>A (p.Gly2478Asp)
c.7310G>A (p.Gly2437Asp)
n.1560G>A
c.4916G>A (p.Gly1639Asp)
c.7529G>A (p.Gly2510Asp)
c.5339G>A (p.Gly1780Asp)
c.5015G>A (p.Gly1672Asp)
 dbSNP
11g.118503325G>CCA382805562KMT2Ac.7532G>C (p.Gly2511Ala)
c.7523G>C (p.Gly2508Ala)
c.1472G>C (p.Gly491Ala)
c.1730G>C (p.Gly577Ala)
c.7505G>C (p.Gly2502Ala)
c.7424G>C (p.Gly2475Ala)
n.6775G>C
c.7433G>C (p.Gly2478Ala)
c.7310G>C (p.Gly2437Ala)
n.1560G>C
c.4916G>C (p.Gly1639Ala)
c.7529G>C (p.Gly2510Ala)
c.5339G>C (p.Gly1780Ala)
c.5015G>C (p.Gly1672Ala)
11g.118503325G>TCA382805564KMT2Ac.7532G>T (p.Gly2511Val)
c.7523G>T (p.Gly2508Val)
c.1472G>T (p.Gly491Val)
c.1730G>T (p.Gly577Val)
c.7505G>T (p.Gly2502Val)
c.7424G>T (p.Gly2475Val)
n.6775G>T
c.7433G>T (p.Gly2478Val)
c.7310G>T (p.Gly2437Val)
n.1560G>T
c.4916G>T (p.Gly1639Val)
c.7529G>T (p.Gly2510Val)
c.5339G>T (p.Gly1780Val)
c.5015G>T (p.Gly1672Val)
11g.118503326C>ACA477359427KMT2Ac.7533C>A (p.Gly2511=)
c.7524C>A (p.Gly2508=)
c.1473C>A (p.Gly491=)
c.1731C>A (p.Gly577=)
c.7506C>A (p.Gly2502=)
c.7425C>A (p.Gly2475=)
n.6776C>A
c.7434C>A (p.Gly2478=)
c.7311C>A (p.Gly2437=)
n.1561C>A
c.4917C>A (p.Gly1639=)
c.7530C>A (p.Gly2510=)
c.5340C>A (p.Gly1780=)
c.5016C>A (p.Gly1672=)
 dbSNP
11g.118503326C>GCA477359428KMT2Ac.7533C>G (p.Gly2511=)
c.7524C>G (p.Gly2508=)
c.1473C>G (p.Gly491=)
c.1731C>G (p.Gly577=)
c.7506C>G (p.Gly2502=)
c.7425C>G (p.Gly2475=)
n.6776C>G
c.7434C>G (p.Gly2478=)
c.7311C>G (p.Gly2437=)
n.1561C>G
c.4917C>G (p.Gly1639=)
c.7530C>G (p.Gly2510=)
c.5340C>G (p.Gly1780=)
c.5016C>G (p.Gly1672=)
11g.118503326C>TCA477359429KMT2Ac.7533C>T (p.Gly2511=)
c.7524C>T (p.Gly2508=)
c.1473C>T (p.Gly491=)
c.1731C>T (p.Gly577=)
c.7506C>T (p.Gly2502=)
c.7425C>T (p.Gly2475=)
n.6776C>T
c.7434C>T (p.Gly2478=)
c.7311C>T (p.Gly2437=)
n.1561C>T
c.4917C>T (p.Gly1639=)
c.7530C>T (p.Gly2510=)
c.5340C>T (p.Gly1780=)
c.5016C>T (p.Gly1672=)
 ClinVar dbSNP
11g.118503327C>ACA382805566KMT2Ac.7534C>A (p.Gln2512Lys)
c.7525C>A (p.Gln2509Lys)
c.1474C>A (p.Gln492Lys)
c.1732C>A (p.Gln578Lys)
c.7507C>A (p.Gln2503Lys)
c.7426C>A (p.Gln2476Lys)
n.6777C>A
c.7435C>A (p.Gln2479Lys)
c.7312C>A (p.Gln2438Lys)
n.1562C>A
c.4918C>A (p.Gln1640Lys)
c.7531C>A (p.Gln2511Lys)
c.5341C>A (p.Gln1781Lys)
c.5017C>A (p.Gln1673Lys)
11g.118503327C>GCA382805570KMT2Ac.7534C>G (p.Gln2512Glu)
c.7525C>G (p.Gln2509Glu)
c.1474C>G (p.Gln492Glu)
c.1732C>G (p.Gln578Glu)
c.7507C>G (p.Gln2503Glu)
c.7426C>G (p.Gln2476Glu)
n.6777C>G
c.7435C>G (p.Gln2479Glu)
c.7312C>G (p.Gln2438Glu)
n.1562C>G
c.4918C>G (p.Gln1640Glu)
c.7531C>G (p.Gln2511Glu)
c.5341C>G (p.Gln1781Glu)
c.5017C>G (p.Gln1673Glu)
11g.118503327C>TCA382805568KMT2Ac.7534C>T (p.Gln2512Ter)
c.7525C>T (p.Gln2509Ter)
c.1474C>T (p.Gln492Ter)
c.1732C>T (p.Gln578Ter)
c.7507C>T (p.Gln2503Ter)
c.7426C>T (p.Gln2476Ter)
n.6777C>T
c.7435C>T (p.Gln2479Ter)
c.7312C>T (p.Gln2438Ter)
n.1562C>T
c.4918C>T (p.Gln1640Ter)
c.7531C>T (p.Gln2511Ter)
c.5341C>T (p.Gln1781Ter)
c.5017C>T (p.Gln1673Ter)
11g.118503328A>CCA382805571KMT2Ac.7535A>C (p.Gln2512Pro)
c.7526A>C (p.Gln2509Pro)
c.1475A>C (p.Gln492Pro)
c.1733A>C (p.Gln578Pro)
c.7508A>C (p.Gln2503Pro)
c.7427A>C (p.Gln2476Pro)
n.6778A>C
c.7436A>C (p.Gln2479Pro)
c.7313A>C (p.Gln2438Pro)
n.1563A>C
c.4919A>C (p.Gln1640Pro)
c.7532A>C (p.Gln2511Pro)
c.5342A>C (p.Gln1781Pro)
c.5018A>C (p.Gln1673Pro)
11g.118503328A>GCA382805573KMT2Ac.7535A>G (p.Gln2512Arg)
c.7526A>G (p.Gln2509Arg)
c.1475A>G (p.Gln492Arg)
c.1733A>G (p.Gln578Arg)
c.7508A>G (p.Gln2503Arg)
c.7427A>G (p.Gln2476Arg)
n.6778A>G
c.7436A>G (p.Gln2479Arg)
c.7313A>G (p.Gln2438Arg)
n.1563A>G
c.4919A>G (p.Gln1640Arg)
c.7532A>G (p.Gln2511Arg)
c.5342A>G (p.Gln1781Arg)
c.5018A>G (p.Gln1673Arg)
11g.118503328A>TCA382805575KMT2Ac.7535A>T (p.Gln2512Leu)
c.7526A>T (p.Gln2509Leu)
c.1475A>T (p.Gln492Leu)
c.1733A>T (p.Gln578Leu)
c.7508A>T (p.Gln2503Leu)
c.7427A>T (p.Gln2476Leu)
n.6778A>T
c.7436A>T (p.Gln2479Leu)
c.7313A>T (p.Gln2438Leu)
n.1563A>T
c.4919A>T (p.Gln1640Leu)
c.7532A>T (p.Gln2511Leu)
c.5342A>T (p.Gln1781Leu)
c.5018A>T (p.Gln1673Leu)
11g.118503329A>CCA382805577KMT2Ac.7536A>C (p.Gln2512His)
c.7527A>C (p.Gln2509His)
c.1476A>C (p.Gln492His)
c.1734A>C (p.Gln578His)
c.7509A>C (p.Gln2503His)
c.7428A>C (p.Gln2476His)
n.6779A>C
c.7437A>C (p.Gln2479His)
c.7314A>C (p.Gln2438His)
n.1564A>C
c.4920A>C (p.Gln1640His)
c.7533A>C (p.Gln2511His)
c.5343A>C (p.Gln1781His)
c.5019A>C (p.Gln1673His)
11g.118503329A>GCA477359430KMT2Ac.7536A>G (p.Gln2512=)
c.7527A>G (p.Gln2509=)
c.1476A>G (p.Gln492=)
c.1734A>G (p.Gln578=)
c.7509A>G (p.Gln2503=)
c.7428A>G (p.Gln2476=)
n.6779A>G
c.7437A>G (p.Gln2479=)
c.7314A>G (p.Gln2438=)
n.1564A>G
c.4920A>G (p.Gln1640=)
c.7533A>G (p.Gln2511=)
c.5343A>G (p.Gln1781=)
c.5019A>G (p.Gln1673=)
11g.118503329A>TCA382805578KMT2Ac.7536A>T (p.Gln2512His)
c.7527A>T (p.Gln2509His)
c.1476A>T (p.Gln492His)
c.1734A>T (p.Gln578His)
c.7509A>T (p.Gln2503His)
c.7428A>T (p.Gln2476His)
n.6779A>T
c.7437A>T (p.Gln2479His)
c.7314A>T (p.Gln2438His)
n.1564A>T
c.4920A>T (p.Gln1640His)
c.7533A>T (p.Gln2511His)
c.5343A>T (p.Gln1781His)
c.5019A>T (p.Gln1673His)
11g.118503330C>ACA477359431KMT2Ac.7537C>A (p.Arg2513=)
c.7528C>A (p.Arg2510=)
c.1477C>A (p.Arg493=)
c.1735C>A (p.Arg579=)
c.7510C>A (p.Arg2504=)
c.7429C>A (p.Arg2477=)
n.6780C>A
c.7438C>A (p.Arg2480=)
c.7315C>A (p.Arg2439=)
n.1565C>A
c.4921C>A (p.Arg1641=)
c.7534C>A (p.Arg2512=)
c.5344C>A (p.Arg1782=)
c.5020C>A (p.Arg1674=)
11g.118503330C=CA2003527717KMT2Ac.7537C= (p.Arg2513=)
c.7528C= (p.Arg2510=)
c.1477C= (p.Arg493=)
c.1735C= (p.Arg579=)
c.7510C= (p.Arg2504=)
c.7429C= (p.Arg2477=)
n.6780C=
c.7438C= (p.Arg2480=)
c.7315C= (p.Arg2439=)
n.1565C=
c.4921C= (p.Arg1641=)
c.7534C= (p.Arg2512=)
c.5344C= (p.Arg1782=)
c.5020C= (p.Arg1674=)
11g.118503330C>GCA382805580KMT2Ac.7537C>G (p.Arg2513Gly)
c.7528C>G (p.Arg2510Gly)
c.1477C>G (p.Arg493Gly)
c.1735C>G (p.Arg579Gly)
c.7510C>G (p.Arg2504Gly)
c.7429C>G (p.Arg2477Gly)
n.6780C>G
c.7438C>G (p.Arg2480Gly)
c.7315C>G (p.Arg2439Gly)
n.1565C>G
c.4921C>G (p.Arg1641Gly)
c.7534C>G (p.Arg2512Gly)
c.5344C>G (p.Arg1782Gly)
c.5020C>G (p.Arg1674Gly)
 dbSNP gnomAD v4
11g.118503330C>TCA382805583KMT2Ac.7537C>T (p.Arg2513Ter)
c.7528C>T (p.Arg2510Ter)
c.1477C>T (p.Arg493Ter)
c.1735C>T (p.Arg579Ter)
c.7510C>T (p.Arg2504Ter)
c.7429C>T (p.Arg2477Ter)
n.6780C>T
c.7438C>T (p.Arg2480Ter)
c.7315C>T (p.Arg2439Ter)
n.1565C>T
c.4921C>T (p.Arg1641Ter)
c.7534C>T (p.Arg2512Ter)
c.5344C>T (p.Arg1782Ter)
c.5020C>T (p.Arg1674Ter)
 ClinVar dbSNP
11g.118503331G>ACA229526823KMT2Ac.7538G>A (p.Arg2513Gln)
c.7529G>A (p.Arg2510Gln)
c.1478G>A (p.Arg493Gln)
c.1736G>A (p.Arg579Gln)
c.7511G>A (p.Arg2504Gln)
c.7430G>A (p.Arg2477Gln)
n.6781G>A
c.7439G>A (p.Arg2480Gln)
c.7316G>A (p.Arg2439Gln)
n.1566G>A
c.4922G>A (p.Arg1641Gln)
c.7535G>A (p.Arg2512Gln)
c.5345G>A (p.Arg1782Gln)
c.5021G>A (p.Arg1674Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503331G>CCA382805584KMT2Ac.7538G>C (p.Arg2513Pro)
c.7529G>C (p.Arg2510Pro)
c.1478G>C (p.Arg493Pro)
c.1736G>C (p.Arg579Pro)
c.7511G>C (p.Arg2504Pro)
c.7430G>C (p.Arg2477Pro)
n.6781G>C
c.7439G>C (p.Arg2480Pro)
c.7316G>C (p.Arg2439Pro)
n.1566G>C
c.4922G>C (p.Arg1641Pro)
c.7535G>C (p.Arg2512Pro)
c.5345G>C (p.Arg1782Pro)
c.5021G>C (p.Arg1674Pro)
11g.118503331G=CA2003527724KMT2Ac.7538G= (p.Arg2513=)
c.7529G= (p.Arg2510=)
c.1478G= (p.Arg493=)
c.1736G= (p.Arg579=)
c.7511G= (p.Arg2504=)
c.7430G= (p.Arg2477=)
n.6781G=
c.7439G= (p.Arg2480=)
c.7316G= (p.Arg2439=)
n.1566G=
c.4922G= (p.Arg1641=)
c.7535G= (p.Arg2512=)
c.5345G= (p.Arg1782=)
c.5021G= (p.Arg1674=)
11g.118503331G>TCA382805585KMT2Ac.7538G>T (p.Arg2513Leu)
c.7529G>T (p.Arg2510Leu)
c.1478G>T (p.Arg493Leu)
c.1736G>T (p.Arg579Leu)
c.7511G>T (p.Arg2504Leu)
c.7430G>T (p.Arg2477Leu)
n.6781G>T
c.7439G>T (p.Arg2480Leu)
c.7316G>T (p.Arg2439Leu)
n.1566G>T
c.4922G>T (p.Arg1641Leu)
c.7535G>T (p.Arg2512Leu)
c.5345G>T (p.Arg1782Leu)
c.5021G>T (p.Arg1674Leu)
 gnomAD v4
11g.118503332A>CCA477359432KMT2Ac.7539A>C (p.Arg2513=)
c.7530A>C (p.Arg2510=)
c.1479A>C (p.Arg493=)
c.1737A>C (p.Arg579=)
c.7512A>C (p.Arg2504=)
c.7431A>C (p.Arg2477=)
n.6782A>C
c.7440A>C (p.Arg2480=)
c.7317A>C (p.Arg2439=)
n.1567A>C
c.4923A>C (p.Arg1641=)
c.7536A>C (p.Arg2512=)
c.5346A>C (p.Arg1782=)
c.5022A>C (p.Arg1674=)
11g.118503332A>GCA477359433KMT2Ac.7539A>G (p.Arg2513=)
c.7530A>G (p.Arg2510=)
c.1479A>G (p.Arg493=)
c.1737A>G (p.Arg579=)
c.7512A>G (p.Arg2504=)
c.7431A>G (p.Arg2477=)
n.6782A>G
c.7440A>G (p.Arg2480=)
c.7317A>G (p.Arg2439=)
n.1567A>G
c.4923A>G (p.Arg1641=)
c.7536A>G (p.Arg2512=)
c.5346A>G (p.Arg1782=)
c.5022A>G (p.Arg1674=)
11g.118503332A>TCA477359434KMT2Ac.7539A>T (p.Arg2513=)
c.7530A>T (p.Arg2510=)
c.1479A>T (p.Arg493=)
c.1737A>T (p.Arg579=)
c.7512A>T (p.Arg2504=)
c.7431A>T (p.Arg2477=)
n.6782A>T
c.7440A>T (p.Arg2480=)
c.7317A>T (p.Arg2439=)
n.1567A>T
c.4923A>T (p.Arg1641=)
c.7536A>T (p.Arg2512=)
c.5346A>T (p.Arg1782=)
c.5022A>T (p.Arg1674=)
11g.118503333C>ACA382805588KMT2Ac.7540C>A (p.Pro2514Thr)
c.7531C>A (p.Pro2511Thr)
c.1480C>A (p.Pro494Thr)
c.1738C>A (p.Pro580Thr)
c.7513C>A (p.Pro2505Thr)
c.7432C>A (p.Pro2478Thr)
n.6783C>A
c.7441C>A (p.Pro2481Thr)
c.7318C>A (p.Pro2440Thr)
n.1568C>A
c.4924C>A (p.Pro1642Thr)
c.7537C>A (p.Pro2513Thr)
c.5347C>A (p.Pro1783Thr)
c.5023C>A (p.Pro1675Thr)
 dbSNP
11g.118503333C>GCA382805589KMT2Ac.7540C>G (p.Pro2514Ala)
c.7531C>G (p.Pro2511Ala)
c.1480C>G (p.Pro494Ala)
c.1738C>G (p.Pro580Ala)
c.7513C>G (p.Pro2505Ala)
c.7432C>G (p.Pro2478Ala)
n.6783C>G
c.7441C>G (p.Pro2481Ala)
c.7318C>G (p.Pro2440Ala)
n.1568C>G
c.4924C>G (p.Pro1642Ala)
c.7537C>G (p.Pro2513Ala)
c.5347C>G (p.Pro1783Ala)
c.5023C>G (p.Pro1675Ala)
 gnomAD v4
11g.118503333C>TCA382805586KMT2Ac.7540C>T (p.Pro2514Ser)
c.7531C>T (p.Pro2511Ser)
c.1480C>T (p.Pro494Ser)
c.1738C>T (p.Pro580Ser)
c.7513C>T (p.Pro2505Ser)
c.7432C>T (p.Pro2478Ser)
n.6783C>T
c.7441C>T (p.Pro2481Ser)
c.7318C>T (p.Pro2440Ser)
n.1568C>T
c.4924C>T (p.Pro1642Ser)
c.7537C>T (p.Pro2513Ser)
c.5347C>T (p.Pro1783Ser)
c.5023C>T (p.Pro1675Ser)
11g.118503334C>ACA382805594KMT2Ac.7541C>A (p.Pro2514Gln)
c.7532C>A (p.Pro2511Gln)
c.1481C>A (p.Pro494Gln)
c.1739C>A (p.Pro580Gln)
c.7514C>A (p.Pro2505Gln)
c.7433C>A (p.Pro2478Gln)
n.6784C>A
c.7442C>A (p.Pro2481Gln)
c.7319C>A (p.Pro2440Gln)
n.1569C>A
c.4925C>A (p.Pro1642Gln)
c.7538C>A (p.Pro2513Gln)
c.5348C>A (p.Pro1783Gln)
c.5024C>A (p.Pro1675Gln)
 gnomAD v4
11g.118503334C=CA2003527729KMT2Ac.7541C= (p.Pro2514=)
c.7532C= (p.Pro2511=)
c.1481C= (p.Pro494=)
c.1739C= (p.Pro580=)
c.7514C= (p.Pro2505=)
c.7433C= (p.Pro2478=)
n.6784C=
c.7442C= (p.Pro2481=)
c.7319C= (p.Pro2440=)
n.1569C=
c.4925C= (p.Pro1642=)
c.7538C= (p.Pro2513=)
c.5348C= (p.Pro1783=)
c.5024C= (p.Pro1675=)
11g.118503334C>GCA382805591KMT2Ac.7541C>G (p.Pro2514Arg)
c.7532C>G (p.Pro2511Arg)
c.1481C>G (p.Pro494Arg)
c.1739C>G (p.Pro580Arg)
c.7514C>G (p.Pro2505Arg)
c.7433C>G (p.Pro2478Arg)
n.6784C>G
c.7442C>G (p.Pro2481Arg)
c.7319C>G (p.Pro2440Arg)
n.1569C>G
c.4925C>G (p.Pro1642Arg)
c.7538C>G (p.Pro2513Arg)
c.5348C>G (p.Pro1783Arg)
c.5024C>G (p.Pro1675Arg)
11g.118503334C>TCA382805593KMT2Ac.7541C>T (p.Pro2514Leu)
c.7532C>T (p.Pro2511Leu)
c.1481C>T (p.Pro494Leu)
c.1739C>T (p.Pro580Leu)
c.7514C>T (p.Pro2505Leu)
c.7433C>T (p.Pro2478Leu)
n.6784C>T
c.7442C>T (p.Pro2481Leu)
c.7319C>T (p.Pro2440Leu)
n.1569C>T
c.4925C>T (p.Pro1642Leu)
c.7538C>T (p.Pro2513Leu)
c.5348C>T (p.Pro1783Leu)
c.5024C>T (p.Pro1675Leu)
 dbSNP
11g.118503335A=CA2003527734KMT2Ac.7542A= (p.Pro2514=)
c.7533A= (p.Pro2511=)
c.1482A= (p.Pro494=)
c.1740A= (p.Pro580=)
c.7515A= (p.Pro2505=)
c.7434A= (p.Pro2478=)
n.6785A=
c.7443A= (p.Pro2481=)
c.7320A= (p.Pro2440=)
n.1570A=
c.4926A= (p.Pro1642=)
c.7539A= (p.Pro2513=)
c.5349A= (p.Pro1783=)
c.5025A= (p.Pro1675=)
11g.118503335A>CCA477359435KMT2Ac.7542A>C (p.Pro2514=)
c.7533A>C (p.Pro2511=)
c.1482A>C (p.Pro494=)
c.1740A>C (p.Pro580=)
c.7515A>C (p.Pro2505=)
c.7434A>C (p.Pro2478=)
n.6785A>C
c.7443A>C (p.Pro2481=)
c.7320A>C (p.Pro2440=)
n.1570A>C
c.4926A>C (p.Pro1642=)
c.7539A>C (p.Pro2513=)
c.5349A>C (p.Pro1783=)
c.5025A>C (p.Pro1675=)
11g.118503335A>GCA6304398KMT2Ac.7542A>G (p.Pro2514=)
c.7533A>G (p.Pro2511=)
c.1482A>G (p.Pro494=)
c.1740A>G (p.Pro580=)
c.7515A>G (p.Pro2505=)
c.7434A>G (p.Pro2478=)
n.6785A>G
c.7443A>G (p.Pro2481=)
c.7320A>G (p.Pro2440=)
n.1570A>G
c.4926A>G (p.Pro1642=)
c.7539A>G (p.Pro2513=)
c.5349A>G (p.Pro1783=)
c.5025A>G (p.Pro1675=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503335A>TCA477359436KMT2Ac.7542A>T (p.Pro2514=)
c.7533A>T (p.Pro2511=)
c.1482A>T (p.Pro494=)
c.1740A>T (p.Pro580=)
c.7515A>T (p.Pro2505=)
c.7434A>T (p.Pro2478=)
n.6785A>T
c.7443A>T (p.Pro2481=)
c.7320A>T (p.Pro2440=)
n.1570A>T
c.4926A>T (p.Pro1642=)
c.7539A>T (p.Pro2513=)
c.5349A>T (p.Pro1783=)
c.5025A>T (p.Pro1675=)
11g.118503336T>ACA382805595KMT2Ac.7543T>A (p.Cys2515Ser)
c.7534T>A (p.Cys2512Ser)
c.1483T>A (p.Cys495Ser)
c.1741T>A (p.Cys581Ser)
c.7516T>A (p.Cys2506Ser)
c.7435T>A (p.Cys2479Ser)
n.6786T>A
c.7444T>A (p.Cys2482Ser)
c.7321T>A (p.Cys2441Ser)
n.1571T>A
c.4927T>A (p.Cys1643Ser)
c.7540T>A (p.Cys2514Ser)
c.5350T>A (p.Cys1784Ser)
c.5026T>A (p.Cys1676Ser)
11g.118503336T>CCA382805597KMT2Ac.7543T>C (p.Cys2515Arg)
c.7534T>C (p.Cys2512Arg)
c.1483T>C (p.Cys495Arg)
c.1741T>C (p.Cys581Arg)
c.7516T>C (p.Cys2506Arg)
c.7435T>C (p.Cys2479Arg)
n.6786T>C
c.7444T>C (p.Cys2482Arg)
c.7321T>C (p.Cys2441Arg)
n.1571T>C
c.4927T>C (p.Cys1643Arg)
c.7540T>C (p.Cys2514Arg)
c.5350T>C (p.Cys1784Arg)
c.5026T>C (p.Cys1676Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503336T>GCA382805599KMT2Ac.7543T>G (p.Cys2515Gly)
c.7534T>G (p.Cys2512Gly)
c.1483T>G (p.Cys495Gly)
c.1741T>G (p.Cys581Gly)
c.7516T>G (p.Cys2506Gly)
c.7435T>G (p.Cys2479Gly)
n.6786T>G
c.7444T>G (p.Cys2482Gly)
c.7321T>G (p.Cys2441Gly)
n.1571T>G
c.4927T>G (p.Cys1643Gly)
c.7540T>G (p.Cys2514Gly)
c.5350T>G (p.Cys1784Gly)
c.5026T>G (p.Cys1676Gly)
11g.118503336T=CA2003527737KMT2Ac.7543T= (p.Cys2515=)
c.7534T= (p.Cys2512=)
c.1483T= (p.Cys495=)
c.1741T= (p.Cys581=)
c.7516T= (p.Cys2506=)
c.7435T= (p.Cys2479=)
n.6786T=
c.7444T= (p.Cys2482=)
c.7321T= (p.Cys2441=)
n.1571T=
c.4927T= (p.Cys1643=)
c.7540T= (p.Cys2514=)
c.5350T= (p.Cys1784=)
c.5026T= (p.Cys1676=)
11g.118503337G>ACA382805603KMT2Ac.7544G>A (p.Cys2515Tyr)
c.7535G>A (p.Cys2512Tyr)
c.1484G>A (p.Cys495Tyr)
c.1742G>A (p.Cys581Tyr)
c.7517G>A (p.Cys2506Tyr)
c.7436G>A (p.Cys2479Tyr)
n.6787G>A
c.7445G>A (p.Cys2482Tyr)
c.7322G>A (p.Cys2441Tyr)
n.1572G>A
c.4928G>A (p.Cys1643Tyr)
c.7541G>A (p.Cys2514Tyr)
c.5351G>A (p.Cys1784Tyr)
c.5027G>A (p.Cys1676Tyr)
11g.118503337G>CCA382805601KMT2Ac.7544G>C (p.Cys2515Ser)
c.7535G>C (p.Cys2512Ser)
c.1484G>C (p.Cys495Ser)
c.1742G>C (p.Cys581Ser)
c.7517G>C (p.Cys2506Ser)
c.7436G>C (p.Cys2479Ser)
n.6787G>C
c.7445G>C (p.Cys2482Ser)
c.7322G>C (p.Cys2441Ser)
n.1572G>C
c.4928G>C (p.Cys1643Ser)
c.7541G>C (p.Cys2514Ser)
c.5351G>C (p.Cys1784Ser)
c.5027G>C (p.Cys1676Ser)
11g.118503337G=CA2003527741KMT2Ac.7544G= (p.Cys2515=)
c.7535G= (p.Cys2512=)
c.1484G= (p.Cys495=)
c.1742G= (p.Cys581=)
c.7517G= (p.Cys2506=)
c.7436G= (p.Cys2479=)
n.6787G=
c.7445G= (p.Cys2482=)
c.7322G= (p.Cys2441=)
n.1572G=
c.4928G= (p.Cys1643=)
c.7541G= (p.Cys2514=)
c.5351G= (p.Cys1784=)
c.5027G= (p.Cys1676=)
11g.118503337G>TCA229526833KMT2Ac.7544G>T (p.Cys2515Phe)
c.7535G>T (p.Cys2512Phe)
c.1484G>T (p.Cys495Phe)
c.1742G>T (p.Cys581Phe)
c.7517G>T (p.Cys2506Phe)
c.7436G>T (p.Cys2479Phe)
n.6787G>T
c.7445G>T (p.Cys2482Phe)
c.7322G>T (p.Cys2441Phe)
n.1572G>T
c.4928G>T (p.Cys1643Phe)
c.7541G>T (p.Cys2514Phe)
c.5351G>T (p.Cys1784Phe)
c.5027G>T (p.Cys1676Phe)
 ClinVar dbSNP gnomAD v4
11g.118503338T>ACA382805605KMT2Ac.7545T>A (p.Cys2515Ter)
c.7536T>A (p.Cys2512Ter)
c.1485T>A (p.Cys495Ter)
c.1743T>A (p.Cys581Ter)
c.7518T>A (p.Cys2506Ter)
c.7437T>A (p.Cys2479Ter)
n.6788T>A
c.7446T>A (p.Cys2482Ter)
c.7323T>A (p.Cys2441Ter)
n.1573T>A
c.4929T>A (p.Cys1643Ter)
c.7542T>A (p.Cys2514Ter)
c.5352T>A (p.Cys1784Ter)
c.5028T>A (p.Cys1676Ter)
11g.118503338T>CCA477359437KMT2Ac.7545T>C (p.Cys2515=)
c.7536T>C (p.Cys2512=)
c.1485T>C (p.Cys495=)
c.1743T>C (p.Cys581=)
c.7518T>C (p.Cys2506=)
c.7437T>C (p.Cys2479=)
n.6788T>C
c.7446T>C (p.Cys2482=)
c.7323T>C (p.Cys2441=)
n.1573T>C
c.4929T>C (p.Cys1643=)
c.7542T>C (p.Cys2514=)
c.5352T>C (p.Cys1784=)
c.5028T>C (p.Cys1676=)
11g.118503338T>GCA382805607KMT2Ac.7545T>G (p.Cys2515Trp)
c.7536T>G (p.Cys2512Trp)
c.1485T>G (p.Cys495Trp)
c.1743T>G (p.Cys581Trp)
c.7518T>G (p.Cys2506Trp)
c.7437T>G (p.Cys2479Trp)
n.6788T>G
c.7446T>G (p.Cys2482Trp)
c.7323T>G (p.Cys2441Trp)
n.1573T>G
c.4929T>G (p.Cys1643Trp)
c.7542T>G (p.Cys2514Trp)
c.5352T>G (p.Cys1784Trp)
c.5028T>G (p.Cys1676Trp)
11g.118503338T=CA2003527745KMT2Ac.7545T= (p.Cys2515=)
c.7536T= (p.Cys2512=)
c.1485T= (p.Cys495=)
c.1743T= (p.Cys581=)
c.7518T= (p.Cys2506=)
c.7437T= (p.Cys2479=)
n.6788T=
c.7446T= (p.Cys2482=)
c.7323T= (p.Cys2441=)
n.1573T=
c.4929T= (p.Cys1643=)
c.7542T= (p.Cys2514=)
c.5352T= (p.Cys1784=)
c.5028T= (p.Cys1676=)
11g.118503339A>CCA382805609KMT2Ac.7546A>C (p.Asn2516His)
c.7537A>C (p.Asn2513His)
c.1486A>C (p.Asn496His)
c.1744A>C (p.Asn582His)
c.7519A>C (p.Asn2507His)
c.7438A>C (p.Asn2480His)
n.6789A>C
c.7447A>C (p.Asn2483His)
c.7324A>C (p.Asn2442His)
n.1574A>C
c.4930A>C (p.Asn1644His)
c.7543A>C (p.Asn2515His)
c.5353A>C (p.Asn1785His)
c.5029A>C (p.Asn1677His)
11g.118503339A>GCA382805611KMT2Ac.7546A>G (p.Asn2516Asp)
c.7537A>G (p.Asn2513Asp)
c.1486A>G (p.Asn496Asp)
c.1744A>G (p.Asn582Asp)
c.7519A>G (p.Asn2507Asp)
c.7438A>G (p.Asn2480Asp)
n.6789A>G
c.7447A>G (p.Asn2483Asp)
c.7324A>G (p.Asn2442Asp)
n.1574A>G
c.4930A>G (p.Asn1644Asp)
c.7543A>G (p.Asn2515Asp)
c.5353A>G (p.Asn1785Asp)
c.5029A>G (p.Asn1677Asp)
11g.118503339A>TCA382805613KMT2Ac.7546A>T (p.Asn2516Tyr)
c.7537A>T (p.Asn2513Tyr)
c.1486A>T (p.Asn496Tyr)
c.1744A>T (p.Asn582Tyr)
c.7519A>T (p.Asn2507Tyr)
c.7438A>T (p.Asn2480Tyr)
n.6789A>T
c.7447A>T (p.Asn2483Tyr)
c.7324A>T (p.Asn2442Tyr)
n.1574A>T
c.4930A>T (p.Asn1644Tyr)
c.7543A>T (p.Asn2515Tyr)
c.5353A>T (p.Asn1785Tyr)
c.5029A>T (p.Asn1677Tyr)
11g.118503341_118503343dupCA602140930KMT2Ac.7548_7550dup (p.Asn2517_Val2518insAsn)
c.7539_7541dup (p.Asn2514_Val2515insAsn)
c.1488_1490dup (p.Asn497_Val498insAsn)
c.1746_1748dup (p.Asn583_Val584insAsn)
c.7521_7523dup (p.Asn2508_Val2509insAsn)
c.7440_7442dup (p.Asn2481_Val2482insAsn)
n.6791_6793dup
c.7449_7451dup (p.Asn2484_Val2485insAsn)
c.7326_7328dup (p.Asn2443_Val2444insAsn)
n.1576_1578dup
c.4932_4934dup (p.Asn1645_Val1646insAsn)
c.7545_7547dup (p.Asn2516_Val2517insAsn)
c.5355_5357dup (p.Asn1786_Val1787insAsn)
c.5031_5033dup (p.Asn1678_Val1679insAsn)
 dbSNP gnomAD v2 gnomAD v4
11g.118503340A=CA2003527749KMT2Ac.7547A= (p.Asn2516=)
c.7538A= (p.Asn2513=)
c.1487A= (p.Asn496=)
c.1745A= (p.Asn582=)
c.7520A= (p.Asn2507=)
c.7439A= (p.Asn2480=)
n.6790A=
c.7448A= (p.Asn2483=)
c.7325A= (p.Asn2442=)
n.1575A=
c.4931A= (p.Asn1644=)
c.7544A= (p.Asn2515=)
c.5354A= (p.Asn1785=)
c.5030A= (p.Asn1677=)
11g.118503340A>CCA382805614KMT2Ac.7547A>C (p.Asn2516Thr)
c.7538A>C (p.Asn2513Thr)
c.1487A>C (p.Asn496Thr)
c.1745A>C (p.Asn582Thr)
c.7520A>C (p.Asn2507Thr)
c.7439A>C (p.Asn2480Thr)
n.6790A>C
c.7448A>C (p.Asn2483Thr)
c.7325A>C (p.Asn2442Thr)
n.1575A>C
c.4931A>C (p.Asn1644Thr)
c.7544A>C (p.Asn2515Thr)
c.5354A>C (p.Asn1785Thr)
c.5030A>C (p.Asn1677Thr)
 dbSNP
11g.118503340A>GCA382805618KMT2Ac.7547A>G (p.Asn2516Ser)
c.7538A>G (p.Asn2513Ser)
c.1487A>G (p.Asn496Ser)
c.1745A>G (p.Asn582Ser)
c.7520A>G (p.Asn2507Ser)
c.7439A>G (p.Asn2480Ser)
n.6790A>G
c.7448A>G (p.Asn2483Ser)
c.7325A>G (p.Asn2442Ser)
n.1575A>G
c.4931A>G (p.Asn1644Ser)
c.7544A>G (p.Asn2515Ser)
c.5354A>G (p.Asn1785Ser)
c.5030A>G (p.Asn1677Ser)
11g.118503340A>TCA382805616KMT2Ac.7547A>T (p.Asn2516Ile)
c.7538A>T (p.Asn2513Ile)
c.1487A>T (p.Asn496Ile)
c.1745A>T (p.Asn582Ile)
c.7520A>T (p.Asn2507Ile)
c.7439A>T (p.Asn2480Ile)
n.6790A>T
c.7448A>T (p.Asn2483Ile)
c.7325A>T (p.Asn2442Ile)
n.1575A>T
c.4931A>T (p.Asn1644Ile)
c.7544A>T (p.Asn2515Ile)
c.5354A>T (p.Asn1785Ile)
c.5030A>T (p.Asn1677Ile)
 COSMIC COSMIC
11g.118503341C>ACA382805620KMT2Ac.7548C>A (p.Asn2516Lys)
c.7539C>A (p.Asn2513Lys)
c.1488C>A (p.Asn496Lys)
c.1746C>A (p.Asn582Lys)
c.7521C>A (p.Asn2507Lys)
c.7440C>A (p.Asn2480Lys)
n.6791C>A
c.7449C>A (p.Asn2483Lys)
c.7326C>A (p.Asn2442Lys)
n.1576C>A
c.4932C>A (p.Asn1644Lys)
c.7545C>A (p.Asn2515Lys)
c.5355C>A (p.Asn1785Lys)
c.5031C>A (p.Asn1677Lys)
11g.118503341C>GCA382805621KMT2Ac.7548C>G (p.Asn2516Lys)
c.7539C>G (p.Asn2513Lys)
c.1488C>G (p.Asn496Lys)
c.1746C>G (p.Asn582Lys)
c.7521C>G (p.Asn2507Lys)
c.7440C>G (p.Asn2480Lys)
n.6791C>G
c.7449C>G (p.Asn2483Lys)
c.7326C>G (p.Asn2442Lys)
n.1576C>G
c.4932C>G (p.Asn1644Lys)
c.7545C>G (p.Asn2515Lys)
c.5355C>G (p.Asn1785Lys)
c.5031C>G (p.Asn1677Lys)
11g.118503341C>TCA477359438KMT2Ac.7548C>T (p.Asn2516=)
c.7539C>T (p.Asn2513=)
c.1488C>T (p.Asn496=)
c.1746C>T (p.Asn582=)
c.7521C>T (p.Asn2507=)
c.7440C>T (p.Asn2480=)
n.6791C>T
c.7449C>T (p.Asn2483=)
c.7326C>T (p.Asn2442=)
n.1576C>T
c.4932C>T (p.Asn1644=)
c.7545C>T (p.Asn2515=)
c.5355C>T (p.Asn1785=)
c.5031C>T (p.Asn1677=)
 dbSNP
11g.118503342A=CA2003527752KMT2Ac.7549A= (p.Asn2517=)
c.7540A= (p.Asn2514=)
c.1489A= (p.Asn497=)
c.1747A= (p.Asn583=)
c.7522A= (p.Asn2508=)
c.7441A= (p.Asn2481=)
n.6792A=
c.7450A= (p.Asn2484=)
c.7327A= (p.Asn2443=)
n.1577A=
c.4933A= (p.Asn1645=)
c.7546A= (p.Asn2516=)
c.5356A= (p.Asn1786=)
c.5032A= (p.Asn1678=)
11g.118503342A>CCA382805623KMT2Ac.7549A>C (p.Asn2517His)
c.7540A>C (p.Asn2514His)
c.1489A>C (p.Asn497His)
c.1747A>C (p.Asn583His)
c.7522A>C (p.Asn2508His)
c.7441A>C (p.Asn2481His)
n.6792A>C
c.7450A>C (p.Asn2484His)
c.7327A>C (p.Asn2443His)
n.1577A>C
c.4933A>C (p.Asn1645His)
c.7546A>C (p.Asn2516His)
c.5356A>C (p.Asn1786His)
c.5032A>C (p.Asn1678His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118503342A>GCA382805625KMT2Ac.7549A>G (p.Asn2517Asp)
c.7540A>G (p.Asn2514Asp)
c.1489A>G (p.Asn497Asp)
c.1747A>G (p.Asn583Asp)
c.7522A>G (p.Asn2508Asp)
c.7441A>G (p.Asn2481Asp)
n.6792A>G
c.7450A>G (p.Asn2484Asp)
c.7327A>G (p.Asn2443Asp)
n.1577A>G
c.4933A>G (p.Asn1645Asp)
c.7546A>G (p.Asn2516Asp)
c.5356A>G (p.Asn1786Asp)
c.5032A>G (p.Asn1678Asp)
11g.118503342A>TCA382805627KMT2Ac.7549A>T (p.Asn2517Tyr)
c.7540A>T (p.Asn2514Tyr)
c.1489A>T (p.Asn497Tyr)
c.1747A>T (p.Asn583Tyr)
c.7522A>T (p.Asn2508Tyr)
c.7441A>T (p.Asn2481Tyr)
n.6792A>T
c.7450A>T (p.Asn2484Tyr)
c.7327A>T (p.Asn2443Tyr)
n.1577A>T
c.4933A>T (p.Asn1645Tyr)
c.7546A>T (p.Asn2516Tyr)
c.5356A>T (p.Asn1786Tyr)
c.5032A>T (p.Asn1678Tyr)
11g.118503342_118503344delCA2616265409KMT2Ac.7549_7551del (p.Asn2517del)
c.7540_7542del (p.Asn2514del)
c.1489_1491del (p.Asn497del)
c.1747_1749del (p.Asn583del)
c.7522_7524del (p.Asn2508del)
c.7441_7443del (p.Asn2481del)
n.6792_6794del
c.7450_7452del (p.Asn2484del)
c.7327_7329del (p.Asn2443del)
n.1577_1579del
c.4933_4935del (p.Asn1645del)
c.7546_7548del (p.Asn2516del)
c.5356_5358del (p.Asn1786del)
c.5032_5034del (p.Asn1678del)
 gnomAD v4
11g.118503343A=CA2003527756KMT2Ac.7550A= (p.Asn2517=)
c.7541A= (p.Asn2514=)
c.1490A= (p.Asn497=)
c.1748A= (p.Asn583=)
c.7523A= (p.Asn2508=)
c.7442A= (p.Asn2481=)
n.6793A=
c.7451A= (p.Asn2484=)
c.7328A= (p.Asn2443=)
n.1578A=
c.4934A= (p.Asn1645=)
c.7547A= (p.Asn2516=)
c.5357A= (p.Asn1786=)
c.5033A= (p.Asn1678=)
11g.118503343A>CCA382805628KMT2Ac.7550A>C (p.Asn2517Thr)
c.7541A>C (p.Asn2514Thr)
c.1490A>C (p.Asn497Thr)
c.1748A>C (p.Asn583Thr)
c.7523A>C (p.Asn2508Thr)
c.7442A>C (p.Asn2481Thr)
n.6793A>C
c.7451A>C (p.Asn2484Thr)
c.7328A>C (p.Asn2443Thr)
n.1578A>C
c.4934A>C (p.Asn1645Thr)
c.7547A>C (p.Asn2516Thr)
c.5357A>C (p.Asn1786Thr)
c.5033A>C (p.Asn1678Thr)
 gnomAD v4
11g.118503343A>GCA229526839KMT2Ac.7550A>G (p.Asn2517Ser)
c.7541A>G (p.Asn2514Ser)
c.1490A>G (p.Asn497Ser)
c.1748A>G (p.Asn583Ser)
c.7523A>G (p.Asn2508Ser)
c.7442A>G (p.Asn2481Ser)
n.6793A>G
c.7451A>G (p.Asn2484Ser)
c.7328A>G (p.Asn2443Ser)
n.1578A>G
c.4934A>G (p.Asn1645Ser)
c.7547A>G (p.Asn2516Ser)
c.5357A>G (p.Asn1786Ser)
c.5033A>G (p.Asn1678Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503343A>TCA382805631KMT2Ac.7550A>T (p.Asn2517Ile)
c.7541A>T (p.Asn2514Ile)
c.1490A>T (p.Asn497Ile)
c.1748A>T (p.Asn583Ile)
c.7523A>T (p.Asn2508Ile)
c.7442A>T (p.Asn2481Ile)
n.6793A>T
c.7451A>T (p.Asn2484Ile)
c.7328A>T (p.Asn2443Ile)
n.1578A>T
c.4934A>T (p.Asn1645Ile)
c.7547A>T (p.Asn2516Ile)
c.5357A>T (p.Asn1786Ile)
c.5033A>T (p.Asn1678Ile)
11g.118503344T>ACA382805633KMT2Ac.7551T>A (p.Asn2517Lys)
c.7542T>A (p.Asn2514Lys)
c.1491T>A (p.Asn497Lys)
c.1749T>A (p.Asn583Lys)
c.7524T>A (p.Asn2508Lys)
c.7443T>A (p.Asn2481Lys)
n.6794T>A
c.7452T>A (p.Asn2484Lys)
c.7329T>A (p.Asn2443Lys)
n.1579T>A
c.4935T>A (p.Asn1645Lys)
c.7548T>A (p.Asn2516Lys)
c.5358T>A (p.Asn1786Lys)
c.5034T>A (p.Asn1678Lys)
11g.118503344T>CCA477359439KMT2Ac.7551T>C (p.Asn2517=)
c.7542T>C (p.Asn2514=)
c.1491T>C (p.Asn497=)
c.1749T>C (p.Asn583=)
c.7524T>C (p.Asn2508=)
c.7443T>C (p.Asn2481=)
n.6794T>C
c.7452T>C (p.Asn2484=)
c.7329T>C (p.Asn2443=)
n.1579T>C
c.4935T>C (p.Asn1645=)
c.7548T>C (p.Asn2516=)
c.5358T>C (p.Asn1786=)
c.5034T>C (p.Asn1678=)
 ClinVar
11g.118503344T>GCA382805634KMT2Ac.7551T>G (p.Asn2517Lys)
c.7542T>G (p.Asn2514Lys)
c.1491T>G (p.Asn497Lys)
c.1749T>G (p.Asn583Lys)
c.7524T>G (p.Asn2508Lys)
c.7443T>G (p.Asn2481Lys)
n.6794T>G
c.7452T>G (p.Asn2484Lys)
c.7329T>G (p.Asn2443Lys)
n.1579T>G
c.4935T>G (p.Asn1645Lys)
c.7548T>G (p.Asn2516Lys)
c.5358T>G (p.Asn1786Lys)
c.5034T>G (p.Asn1678Lys)
11g.118503345G>ACA382805641KMT2Ac.7552G>A (p.Val2518Ile)
c.7543G>A (p.Val2515Ile)
c.1492G>A (p.Val498Ile)
c.1750G>A (p.Val584Ile)
c.7525G>A (p.Val2509Ile)
c.7444G>A (p.Val2482Ile)
n.6795G>A
c.7453G>A (p.Val2485Ile)
c.7330G>A (p.Val2444Ile)
n.1580G>A
c.4936G>A (p.Val1646Ile)
c.7549G>A (p.Val2517Ile)
c.5359G>A (p.Val1787Ile)
c.5035G>A (p.Val1679Ile)
 dbSNP COSMIC COSMIC
11g.118503345G>CCA6304399KMT2Ac.7552G>C (p.Val2518Leu)
c.7543G>C (p.Val2515Leu)
c.1492G>C (p.Val498Leu)
c.1750G>C (p.Val584Leu)
c.7525G>C (p.Val2509Leu)
c.7444G>C (p.Val2482Leu)
n.6795G>C
c.7453G>C (p.Val2485Leu)
c.7330G>C (p.Val2444Leu)
n.1580G>C
c.4936G>C (p.Val1646Leu)
c.7549G>C (p.Val2517Leu)
c.5359G>C (p.Val1787Leu)
c.5035G>C (p.Val1679Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503345G=CA2003527757KMT2Ac.7552G= (p.Val2518=)
c.7543G= (p.Val2515=)
c.1492G= (p.Val498=)
c.1750G= (p.Val584=)
c.7525G= (p.Val2509=)
c.7444G= (p.Val2482=)
n.6795G=
c.7453G= (p.Val2485=)
c.7330G= (p.Val2444=)
n.1580G=
c.4936G= (p.Val1646=)
c.7549G= (p.Val2517=)
c.5359G= (p.Val1787=)
c.5035G= (p.Val1679=)
11g.118503345G>TCA382805639KMT2Ac.7552G>T (p.Val2518Phe)
c.7543G>T (p.Val2515Phe)
c.1492G>T (p.Val498Phe)
c.1750G>T (p.Val584Phe)
c.7525G>T (p.Val2509Phe)
c.7444G>T (p.Val2482Phe)
n.6795G>T
c.7453G>T (p.Val2485Phe)
c.7330G>T (p.Val2444Phe)
n.1580G>T
c.4936G>T (p.Val1646Phe)
c.7549G>T (p.Val2517Phe)
c.5359G>T (p.Val1787Phe)
c.5035G>T (p.Val1679Phe)
11g.118503346T>ACA382805643KMT2Ac.7553T>A (p.Val2518Asp)
c.7544T>A (p.Val2515Asp)
c.1493T>A (p.Val498Asp)
c.1751T>A (p.Val584Asp)
c.7526T>A (p.Val2509Asp)
c.7445T>A (p.Val2482Asp)
n.6796T>A
c.7454T>A (p.Val2485Asp)
c.7331T>A (p.Val2444Asp)
n.1581T>A
c.4937T>A (p.Val1646Asp)
c.7550T>A (p.Val2517Asp)
c.5360T>A (p.Val1787Asp)
c.5036T>A (p.Val1679Asp)
11g.118503346T>CCA382805645KMT2Ac.7553T>C (p.Val2518Ala)
c.7544T>C (p.Val2515Ala)
c.1493T>C (p.Val498Ala)
c.1751T>C (p.Val584Ala)
c.7526T>C (p.Val2509Ala)
c.7445T>C (p.Val2482Ala)
n.6796T>C
c.7454T>C (p.Val2485Ala)
c.7331T>C (p.Val2444Ala)
n.1581T>C
c.4937T>C (p.Val1646Ala)
c.7550T>C (p.Val2517Ala)
c.5360T>C (p.Val1787Ala)
c.5036T>C (p.Val1679Ala)
 dbSNP gnomAD v2
11g.118503346T>GCA382805646KMT2Ac.7553T>G (p.Val2518Gly)
c.7544T>G (p.Val2515Gly)
c.1493T>G (p.Val498Gly)
c.1751T>G (p.Val584Gly)
c.7526T>G (p.Val2509Gly)
c.7445T>G (p.Val2482Gly)
n.6796T>G
c.7454T>G (p.Val2485Gly)
c.7331T>G (p.Val2444Gly)
n.1581T>G
c.4937T>G (p.Val1646Gly)
c.7550T>G (p.Val2517Gly)
c.5360T>G (p.Val1787Gly)
c.5036T>G (p.Val1679Gly)
11g.118503346T=CA2003527760KMT2Ac.7553T= (p.Val2518=)
c.7544T= (p.Val2515=)
c.1493T= (p.Val498=)
c.1751T= (p.Val584=)
c.7526T= (p.Val2509=)
c.7445T= (p.Val2482=)
n.6796T=
c.7454T= (p.Val2485=)
c.7331T= (p.Val2444=)
n.1581T=
c.4937T= (p.Val1646=)
c.7550T= (p.Val2517=)
c.5360T= (p.Val1787=)
c.5036T= (p.Val1679=)
11g.118503347T>ACA477359441KMT2Ac.7554T>A (p.Val2518=)
c.7545T>A (p.Val2515=)
c.1494T>A (p.Val498=)
c.1752T>A (p.Val584=)
c.7527T>A (p.Val2509=)
c.7446T>A (p.Val2482=)
n.6797T>A
c.7455T>A (p.Val2485=)
c.7332T>A (p.Val2444=)
n.1582T>A
c.4938T>A (p.Val1646=)
c.7551T>A (p.Val2517=)
c.5361T>A (p.Val1787=)
c.5037T>A (p.Val1679=)
11g.118503347T>CCA477359442KMT2Ac.7554T>C (p.Val2518=)
c.7545T>C (p.Val2515=)
c.1494T>C (p.Val498=)
c.1752T>C (p.Val584=)
c.7527T>C (p.Val2509=)
c.7446T>C (p.Val2482=)
n.6797T>C
c.7455T>C (p.Val2485=)
c.7332T>C (p.Val2444=)
n.1582T>C
c.4938T>C (p.Val1646=)
c.7551T>C (p.Val2517=)
c.5361T>C (p.Val1787=)
c.5037T>C (p.Val1679=)
11g.118503347T>GCA477359440KMT2Ac.7554T>G (p.Val2518=)
c.7545T>G (p.Val2515=)
c.1494T>G (p.Val498=)
c.1752T>G (p.Val584=)
c.7527T>G (p.Val2509=)
c.7446T>G (p.Val2482=)
n.6797T>G
c.7455T>G (p.Val2485=)
c.7332T>G (p.Val2444=)
n.1582T>G
c.4938T>G (p.Val1646=)
c.7551T>G (p.Val2517=)
c.5361T>G (p.Val1787=)
c.5037T>G (p.Val1679=)
 gnomAD v4
11g.118503348T>ACA382805648KMT2Ac.7555T>A (p.Ser2519Thr)
c.7546T>A (p.Ser2516Thr)
c.1495T>A (p.Ser499Thr)
c.1753T>A (p.Ser585Thr)
c.7528T>A (p.Ser2510Thr)
c.7447T>A (p.Ser2483Thr)
n.6798T>A
c.7456T>A (p.Ser2486Thr)
c.7333T>A (p.Ser2445Thr)
n.1583T>A
c.4939T>A (p.Ser1647Thr)
c.7552T>A (p.Ser2518Thr)
c.5362T>A (p.Ser1788Thr)
c.5038T>A (p.Ser1680Thr)
11g.118503348T>CCA382805650KMT2Ac.7555T>C (p.Ser2519Pro)
c.7546T>C (p.Ser2516Pro)
c.1495T>C (p.Ser499Pro)
c.1753T>C (p.Ser585Pro)
c.7528T>C (p.Ser2510Pro)
c.7447T>C (p.Ser2483Pro)
n.6798T>C
c.7456T>C (p.Ser2486Pro)
c.7333T>C (p.Ser2445Pro)
n.1583T>C
c.4939T>C (p.Ser1647Pro)
c.7552T>C (p.Ser2518Pro)
c.5362T>C (p.Ser1788Pro)
c.5038T>C (p.Ser1680Pro)
 dbSNP
11g.118503348T>GCA382805652KMT2Ac.7555T>G (p.Ser2519Ala)
c.7546T>G (p.Ser2516Ala)
c.1495T>G (p.Ser499Ala)
c.1753T>G (p.Ser585Ala)
c.7528T>G (p.Ser2510Ala)
c.7447T>G (p.Ser2483Ala)
n.6798T>G
c.7456T>G (p.Ser2486Ala)
c.7333T>G (p.Ser2445Ala)
n.1583T>G
c.4939T>G (p.Ser1647Ala)
c.7552T>G (p.Ser2518Ala)
c.5362T>G (p.Ser1788Ala)
c.5038T>G (p.Ser1680Ala)
11g.118503349C>ACA382805653KMT2Ac.7556C>A (p.Ser2519Tyr)
c.7547C>A (p.Ser2516Tyr)
c.1496C>A (p.Ser499Tyr)
c.1754C>A (p.Ser585Tyr)
c.7529C>A (p.Ser2510Tyr)
c.7448C>A (p.Ser2483Tyr)
n.6799C>A
c.7457C>A (p.Ser2486Tyr)
c.7334C>A (p.Ser2445Tyr)
n.1584C>A
c.4940C>A (p.Ser1647Tyr)
c.7553C>A (p.Ser2518Tyr)
c.5363C>A (p.Ser1788Tyr)
c.5039C>A (p.Ser1680Tyr)
 ClinVar
11g.118503349C>GCA382805654KMT2Ac.7556C>G (p.Ser2519Cys)
c.7547C>G (p.Ser2516Cys)
c.1496C>G (p.Ser499Cys)
c.1754C>G (p.Ser585Cys)
c.7529C>G (p.Ser2510Cys)
c.7448C>G (p.Ser2483Cys)
n.6799C>G
c.7457C>G (p.Ser2486Cys)
c.7334C>G (p.Ser2445Cys)
n.1584C>G
c.4940C>G (p.Ser1647Cys)
c.7553C>G (p.Ser2518Cys)
c.5363C>G (p.Ser1788Cys)
c.5039C>G (p.Ser1680Cys)
11g.118503349C>TCA382805655KMT2Ac.7556C>T (p.Ser2519Phe)
c.7547C>T (p.Ser2516Phe)
c.1496C>T (p.Ser499Phe)
c.1754C>T (p.Ser585Phe)
c.7529C>T (p.Ser2510Phe)
c.7448C>T (p.Ser2483Phe)
n.6799C>T
c.7457C>T (p.Ser2486Phe)
c.7334C>T (p.Ser2445Phe)
n.1584C>T
c.4940C>T (p.Ser1647Phe)
c.7553C>T (p.Ser2518Phe)
c.5363C>T (p.Ser1788Phe)
c.5039C>T (p.Ser1680Phe)
 gnomAD v4
11g.118503350T>ACA477359443KMT2Ac.7557T>A (p.Ser2519=)
c.7548T>A (p.Ser2516=)
c.1497T>A (p.Ser499=)
c.1755T>A (p.Ser585=)
c.7530T>A (p.Ser2510=)
c.7449T>A (p.Ser2483=)
n.6800T>A
c.7458T>A (p.Ser2486=)
c.7335T>A (p.Ser2445=)
n.1585T>A
c.4941T>A (p.Ser1647=)
c.7554T>A (p.Ser2518=)
c.5364T>A (p.Ser1788=)
c.5040T>A (p.Ser1680=)
11g.118503350T>CCA477359445KMT2Ac.7557T>C (p.Ser2519=)
c.7548T>C (p.Ser2516=)
c.1497T>C (p.Ser499=)
c.1755T>C (p.Ser585=)
c.7530T>C (p.Ser2510=)
c.7449T>C (p.Ser2483=)
n.6800T>C
c.7458T>C (p.Ser2486=)
c.7335T>C (p.Ser2445=)
n.1585T>C
c.4941T>C (p.Ser1647=)
c.7554T>C (p.Ser2518=)
c.5364T>C (p.Ser1788=)
c.5040T>C (p.Ser1680=)
11g.118503350T>GCA477359444KMT2Ac.7557T>G (p.Ser2519=)
c.7548T>G (p.Ser2516=)
c.1497T>G (p.Ser499=)
c.1755T>G (p.Ser585=)
c.7530T>G (p.Ser2510=)
c.7449T>G (p.Ser2483=)
n.6800T>G
c.7458T>G (p.Ser2486=)
c.7335T>G (p.Ser2445=)
n.1585T>G
c.4941T>G (p.Ser1647=)
c.7554T>G (p.Ser2518=)
c.5364T>G (p.Ser1788=)
c.5040T>G (p.Ser1680=)
11g.118503351T>ACA382805656KMT2Ac.7558T>A (p.Ser2520Thr)
c.7549T>A (p.Ser2517Thr)
c.1498T>A (p.Ser500Thr)
c.1756T>A (p.Ser586Thr)
c.7531T>A (p.Ser2511Thr)
c.7450T>A (p.Ser2484Thr)
n.6801T>A
c.7459T>A (p.Ser2487Thr)
c.7336T>A (p.Ser2446Thr)
n.1586T>A
c.4942T>A (p.Ser1648Thr)
c.7555T>A (p.Ser2519Thr)
c.5365T>A (p.Ser1789Thr)
c.5041T>A (p.Ser1681Thr)
11g.118503351T>CCA382805658KMT2Ac.7558T>C (p.Ser2520Pro)
c.7549T>C (p.Ser2517Pro)
c.1498T>C (p.Ser500Pro)
c.1756T>C (p.Ser586Pro)
c.7531T>C (p.Ser2511Pro)
c.7450T>C (p.Ser2484Pro)
n.6801T>C
c.7459T>C (p.Ser2487Pro)
c.7336T>C (p.Ser2446Pro)
n.1586T>C
c.4942T>C (p.Ser1648Pro)
c.7555T>C (p.Ser2519Pro)
c.5365T>C (p.Ser1789Pro)
c.5041T>C (p.Ser1681Pro)
11g.118503351T>GCA382805660KMT2Ac.7558T>G (p.Ser2520Ala)
c.7549T>G (p.Ser2517Ala)
c.1498T>G (p.Ser500Ala)
c.1756T>G (p.Ser586Ala)
c.7531T>G (p.Ser2511Ala)
c.7450T>G (p.Ser2484Ala)
n.6801T>G
c.7459T>G (p.Ser2487Ala)
c.7336T>G (p.Ser2446Ala)
n.1586T>G
c.4942T>G (p.Ser1648Ala)
c.7555T>G (p.Ser2519Ala)
c.5365T>G (p.Ser1789Ala)
c.5041T>G (p.Ser1681Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.118503351T=CA2003527761KMT2Ac.7558T= (p.Ser2520=)
c.7549T= (p.Ser2517=)
c.1498T= (p.Ser500=)
c.1756T= (p.Ser586=)
c.7531T= (p.Ser2511=)
c.7450T= (p.Ser2484=)
n.6801T=
c.7459T= (p.Ser2487=)
c.7336T= (p.Ser2446=)
n.1586T=
c.4942T= (p.Ser1648=)
c.7555T= (p.Ser2519=)
c.5365T= (p.Ser1789=)
c.5041T= (p.Ser1681=)
11g.118503352C>ACA382805665KMT2Ac.7559C>A (p.Ser2520Tyr)
c.7550C>A (p.Ser2517Tyr)
c.1499C>A (p.Ser500Tyr)
c.1757C>A (p.Ser586Tyr)
c.7532C>A (p.Ser2511Tyr)
c.7451C>A (p.Ser2484Tyr)
n.6802C>A
c.7460C>A (p.Ser2487Tyr)
c.7337C>A (p.Ser2446Tyr)
n.1587C>A
c.4943C>A (p.Ser1648Tyr)
c.7556C>A (p.Ser2519Tyr)
c.5366C>A (p.Ser1789Tyr)
c.5042C>A (p.Ser1681Tyr)
 dbSNP
11g.118503352C>GCA382805663KMT2Ac.7559C>G (p.Ser2520Cys)
c.7550C>G (p.Ser2517Cys)
c.1499C>G (p.Ser500Cys)
c.1757C>G (p.Ser586Cys)
c.7532C>G (p.Ser2511Cys)
c.7451C>G (p.Ser2484Cys)
n.6802C>G
c.7460C>G (p.Ser2487Cys)
c.7337C>G (p.Ser2446Cys)
n.1587C>G
c.4943C>G (p.Ser1648Cys)
c.7556C>G (p.Ser2519Cys)
c.5366C>G (p.Ser1789Cys)
c.5042C>G (p.Ser1681Cys)
11g.118503352C>TCA382805662KMT2Ac.7559C>T (p.Ser2520Phe)
c.7550C>T (p.Ser2517Phe)
c.1499C>T (p.Ser500Phe)
c.1757C>T (p.Ser586Phe)
c.7532C>T (p.Ser2511Phe)
c.7451C>T (p.Ser2484Phe)
n.6802C>T
c.7460C>T (p.Ser2487Phe)
c.7337C>T (p.Ser2446Phe)
n.1587C>T
c.4943C>T (p.Ser1648Phe)
c.7556C>T (p.Ser2519Phe)
c.5366C>T (p.Ser1789Phe)
c.5042C>T (p.Ser1681Phe)
11g.118503353T>ACA477359446KMT2Ac.7560T>A (p.Ser2520=)
c.7551T>A (p.Ser2517=)
c.1500T>A (p.Ser500=)
c.1758T>A (p.Ser586=)
c.7533T>A (p.Ser2511=)
c.7452T>A (p.Ser2484=)
n.6803T>A
c.7461T>A (p.Ser2487=)
c.7338T>A (p.Ser2446=)
n.1588T>A
c.4944T>A (p.Ser1648=)
c.7557T>A (p.Ser2519=)
c.5367T>A (p.Ser1789=)
c.5043T>A (p.Ser1681=)
 dbSNP
11g.118503353T>CCA477359447KMT2Ac.7560T>C (p.Ser2520=)
c.7551T>C (p.Ser2517=)
c.1500T>C (p.Ser500=)
c.1758T>C (p.Ser586=)
c.7533T>C (p.Ser2511=)
c.7452T>C (p.Ser2484=)
n.6803T>C
c.7461T>C (p.Ser2487=)
c.7338T>C (p.Ser2446=)
n.1588T>C
c.4944T>C (p.Ser1648=)
c.7557T>C (p.Ser2519=)
c.5367T>C (p.Ser1789=)
c.5043T>C (p.Ser1681=)
 dbSNP
11g.118503353T>GCA6304400KMT2Ac.7560T>G (p.Ser2520=)
c.7551T>G (p.Ser2517=)
c.1500T>G (p.Ser500=)
c.1758T>G (p.Ser586=)
c.7533T>G (p.Ser2511=)
c.7452T>G (p.Ser2484=)
n.6803T>G
c.7461T>G (p.Ser2487=)
c.7338T>G (p.Ser2446=)
n.1588T>G
c.4944T>G (p.Ser1648=)
c.7557T>G (p.Ser2519=)
c.5367T>G (p.Ser1789=)
c.5043T>G (p.Ser1681=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503353T=CA2003527763KMT2Ac.7560T= (p.Ser2520=)
c.7551T= (p.Ser2517=)
c.1500T= (p.Ser500=)
c.1758T= (p.Ser586=)
c.7533T= (p.Ser2511=)
c.7452T= (p.Ser2484=)
n.6803T=
c.7461T= (p.Ser2487=)
c.7338T= (p.Ser2446=)
n.1588T=
c.4944T= (p.Ser1648=)
c.7557T= (p.Ser2519=)
c.5367T= (p.Ser1789=)
c.5043T= (p.Ser1681=)
11g.118503354G>ACA382805668KMT2Ac.7561G>A (p.Asp2521Asn)
c.7552G>A (p.Asp2518Asn)
c.1501G>A (p.Asp501Asn)
c.1759G>A (p.Asp587Asn)
c.7534G>A (p.Asp2512Asn)
c.7453G>A (p.Asp2485Asn)
n.6804G>A
c.7462G>A (p.Asp2488Asn)
c.7339G>A (p.Asp2447Asn)
n.1589G>A
c.4945G>A (p.Asp1649Asn)
c.7558G>A (p.Asp2520Asn)
c.5368G>A (p.Asp1790Asn)
c.5044G>A (p.Asp1682Asn)
 dbSNP gnomAD v4
11g.118503354G>CCA382805670KMT2Ac.7561G>C (p.Asp2521His)
c.7552G>C (p.Asp2518His)
c.1501G>C (p.Asp501His)
c.1759G>C (p.Asp587His)
c.7534G>C (p.Asp2512His)
c.7453G>C (p.Asp2485His)
n.6804G>C
c.7462G>C (p.Asp2488His)
c.7339G>C (p.Asp2447His)
n.1589G>C
c.4945G>C (p.Asp1649His)
c.7558G>C (p.Asp2520His)
c.5368G>C (p.Asp1790His)
c.5044G>C (p.Asp1682His)
 dbSNP
11g.118503354G>TCA382805672KMT2Ac.7561G>T (p.Asp2521Tyr)
c.7552G>T (p.Asp2518Tyr)
c.1501G>T (p.Asp501Tyr)
c.1759G>T (p.Asp587Tyr)
c.7534G>T (p.Asp2512Tyr)
c.7453G>T (p.Asp2485Tyr)
n.6804G>T
c.7462G>T (p.Asp2488Tyr)
c.7339G>T (p.Asp2447Tyr)
n.1589G>T
c.4945G>T (p.Asp1649Tyr)
c.7558G>T (p.Asp2520Tyr)
c.5368G>T (p.Asp1790Tyr)
c.5044G>T (p.Asp1682Tyr)
11g.118503355A=CA2003527764KMT2Ac.7562A= (p.Asp2521=)
c.7553A= (p.Asp2518=)
c.1502A= (p.Asp501=)
c.1760A= (p.Asp587=)
c.7535A= (p.Asp2512=)
c.7454A= (p.Asp2485=)
n.6805A=
c.7463A= (p.Asp2488=)
c.7340A= (p.Asp2447=)
n.1590A=
c.4946A= (p.Asp1649=)
c.7559A= (p.Asp2520=)
c.5369A= (p.Asp1790=)
c.5045A= (p.Asp1682=)
11g.118503355A>CCA382805674KMT2Ac.7562A>C (p.Asp2521Ala)
c.7553A>C (p.Asp2518Ala)
c.1502A>C (p.Asp501Ala)
c.1760A>C (p.Asp587Ala)
c.7535A>C (p.Asp2512Ala)
c.7454A>C (p.Asp2485Ala)
n.6805A>C
c.7463A>C (p.Asp2488Ala)
c.7340A>C (p.Asp2447Ala)
n.1590A>C
c.4946A>C (p.Asp1649Ala)
c.7559A>C (p.Asp2520Ala)
c.5369A>C (p.Asp1790Ala)
c.5045A>C (p.Asp1682Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.118503355A>GCA382805676KMT2Ac.7562A>G (p.Asp2521Gly)
c.7553A>G (p.Asp2518Gly)
c.1502A>G (p.Asp501Gly)
c.1760A>G (p.Asp587Gly)
c.7535A>G (p.Asp2512Gly)
c.7454A>G (p.Asp2485Gly)
n.6805A>G
c.7463A>G (p.Asp2488Gly)
c.7340A>G (p.Asp2447Gly)
n.1590A>G
c.4946A>G (p.Asp1649Gly)
c.7559A>G (p.Asp2520Gly)
c.5369A>G (p.Asp1790Gly)
c.5045A>G (p.Asp1682Gly)
 ClinVar dbSNP
11g.118503355A>TCA382805678KMT2Ac.7562A>T (p.Asp2521Val)
c.7553A>T (p.Asp2518Val)
c.1502A>T (p.Asp501Val)
c.1760A>T (p.Asp587Val)
c.7535A>T (p.Asp2512Val)
c.7454A>T (p.Asp2485Val)
n.6805A>T
c.7463A>T (p.Asp2488Val)
c.7340A>T (p.Asp2447Val)
n.1590A>T
c.4946A>T (p.Asp1649Val)
c.7559A>T (p.Asp2520Val)
c.5369A>T (p.Asp1790Val)
c.5045A>T (p.Asp1682Val)
11g.118503356T>ACA382805679KMT2Ac.7563T>A (p.Asp2521Glu)
c.7554T>A (p.Asp2518Glu)
c.1503T>A (p.Asp501Glu)
c.1761T>A (p.Asp587Glu)
c.7536T>A (p.Asp2512Glu)
c.7455T>A (p.Asp2485Glu)
n.6806T>A
c.7464T>A (p.Asp2488Glu)
c.7341T>A (p.Asp2447Glu)
n.1591T>A
c.4947T>A (p.Asp1649Glu)
c.7560T>A (p.Asp2520Glu)
c.5370T>A (p.Asp1790Glu)
c.5046T>A (p.Asp1682Glu)
11g.118503356T>CCA229526863KMT2Ac.7563T>C (p.Asp2521=)
c.7554T>C (p.Asp2518=)
c.1503T>C (p.Asp501=)
c.1761T>C (p.Asp587=)
c.7536T>C (p.Asp2512=)
c.7455T>C (p.Asp2485=)
n.6806T>C
c.7464T>C (p.Asp2488=)
c.7341T>C (p.Asp2447=)
n.1591T>C
c.4947T>C (p.Asp1649=)
c.7560T>C (p.Asp2520=)
c.5370T>C (p.Asp1790=)
c.5046T>C (p.Asp1682=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503356T>GCA382805681KMT2Ac.7563T>G (p.Asp2521Glu)
c.7554T>G (p.Asp2518Glu)
c.1503T>G (p.Asp501Glu)
c.1761T>G (p.Asp587Glu)
c.7536T>G (p.Asp2512Glu)
c.7455T>G (p.Asp2485Glu)
n.6806T>G
c.7464T>G (p.Asp2488Glu)
c.7341T>G (p.Asp2447Glu)
n.1591T>G
c.4947T>G (p.Asp1649Glu)
c.7560T>G (p.Asp2520Glu)
c.5370T>G (p.Asp1790Glu)
c.5046T>G (p.Asp1682Glu)
11g.118503356T=CA2003527768KMT2Ac.7563T= (p.Asp2521=)
c.7554T= (p.Asp2518=)
c.1503T= (p.Asp501=)
c.1761T= (p.Asp587=)
c.7536T= (p.Asp2512=)
c.7455T= (p.Asp2485=)
n.6806T=
c.7464T= (p.Asp2488=)
c.7341T= (p.Asp2447=)
n.1591T=
c.4947T= (p.Asp1649=)
c.7560T= (p.Asp2520=)
c.5370T= (p.Asp1790=)
c.5046T= (p.Asp1682=)
11g.118503356dupCA645575345KMT2Ac.7563dup (p.Lys2522Ter)
c.7554dup (p.Lys2519Ter)
c.1503dup (p.Lys502Ter)
c.1761dup (p.Lys588Ter)
c.7536dup (p.Lys2513Ter)
c.7455dup (p.Lys2486Ter)
n.6806dup
c.7464dup (p.Lys2489Ter)
c.7341dup (p.Lys2448Ter)
n.1591dup
c.4947dup (p.Lys1650Ter)
c.7560dup (p.Lys2521Ter)
c.5370dup (p.Lys1791Ter)
c.5046dup (p.Lys1683Ter)
 COSMIC COSMIC
11g.118503357A>CCA382805682KMT2Ac.7564A>C (p.Lys2522Gln)
c.7555A>C (p.Lys2519Gln)
c.1504A>C (p.Lys502Gln)
c.1762A>C (p.Lys588Gln)
c.7537A>C (p.Lys2513Gln)
c.7456A>C (p.Lys2486Gln)
n.6807A>C
c.7465A>C (p.Lys2489Gln)
c.7342A>C (p.Lys2448Gln)
n.1592A>C
c.4948A>C (p.Lys1650Gln)
c.7561A>C (p.Lys2521Gln)
c.5371A>C (p.Lys1791Gln)
c.5047A>C (p.Lys1683Gln)
11g.118503357A>GCA382805684KMT2Ac.7564A>G (p.Lys2522Glu)
c.7555A>G (p.Lys2519Glu)
c.1504A>G (p.Lys502Glu)
c.1762A>G (p.Lys588Glu)
c.7537A>G (p.Lys2513Glu)
c.7456A>G (p.Lys2486Glu)
n.6807A>G
c.7465A>G (p.Lys2489Glu)
c.7342A>G (p.Lys2448Glu)
n.1592A>G
c.4948A>G (p.Lys1650Glu)
c.7561A>G (p.Lys2521Glu)
c.5371A>G (p.Lys1791Glu)
c.5047A>G (p.Lys1683Glu)
11g.118503357A>TCA382805685KMT2Ac.7564A>T (p.Lys2522Ter)
c.7555A>T (p.Lys2519Ter)
c.1504A>T (p.Lys502Ter)
c.1762A>T (p.Lys588Ter)
c.7537A>T (p.Lys2513Ter)
c.7456A>T (p.Lys2486Ter)
n.6807A>T
c.7465A>T (p.Lys2489Ter)
c.7342A>T (p.Lys2448Ter)
n.1592A>T
c.4948A>T (p.Lys1650Ter)
c.7561A>T (p.Lys2521Ter)
c.5371A>T (p.Lys1791Ter)
c.5047A>T (p.Lys1683Ter)
11g.118503358A=CA2003527773KMT2Ac.7565A= (p.Lys2522=)
c.7556A= (p.Lys2519=)
c.1505A= (p.Lys502=)
c.1763A= (p.Lys588=)
c.7538A= (p.Lys2513=)
c.7457A= (p.Lys2486=)
n.6808A=
c.7466A= (p.Lys2489=)
c.7343A= (p.Lys2448=)
n.1593A=
c.4949A= (p.Lys1650=)
c.7562A= (p.Lys2521=)
c.5372A= (p.Lys1791=)
c.5048A= (p.Lys1683=)
11g.118503358A>CCA382805689KMT2Ac.7565A>C (p.Lys2522Thr)
c.7556A>C (p.Lys2519Thr)
c.1505A>C (p.Lys502Thr)
c.1763A>C (p.Lys588Thr)
c.7538A>C (p.Lys2513Thr)
c.7457A>C (p.Lys2486Thr)
n.6808A>C
c.7466A>C (p.Lys2489Thr)
c.7343A>C (p.Lys2448Thr)
n.1593A>C
c.4949A>C (p.Lys1650Thr)
c.7562A>C (p.Lys2521Thr)
c.5372A>C (p.Lys1791Thr)
c.5048A>C (p.Lys1683Thr)
 ClinVar dbSNP
11g.118503358A>GCA382805690KMT2Ac.7565A>G (p.Lys2522Arg)
c.7556A>G (p.Lys2519Arg)
c.1505A>G (p.Lys502Arg)
c.1763A>G (p.Lys588Arg)
c.7538A>G (p.Lys2513Arg)
c.7457A>G (p.Lys2486Arg)
n.6808A>G
c.7466A>G (p.Lys2489Arg)
c.7343A>G (p.Lys2448Arg)
n.1593A>G
c.4949A>G (p.Lys1650Arg)
c.7562A>G (p.Lys2521Arg)
c.5372A>G (p.Lys1791Arg)
c.5048A>G (p.Lys1683Arg)
11g.118503358A>TCA382805687KMT2Ac.7565A>T (p.Lys2522Met)
c.7556A>T (p.Lys2519Met)
c.1505A>T (p.Lys502Met)
c.1763A>T (p.Lys588Met)
c.7538A>T (p.Lys2513Met)
c.7457A>T (p.Lys2486Met)
n.6808A>T
c.7466A>T (p.Lys2489Met)
c.7343A>T (p.Lys2448Met)
n.1593A>T
c.4949A>T (p.Lys1650Met)
c.7562A>T (p.Lys2521Met)
c.5372A>T (p.Lys1791Met)
c.5048A>T (p.Lys1683Met)
11g.118503359G>ACA477359448KMT2Ac.7566G>A (p.Lys2522=)
c.7557G>A (p.Lys2519=)
c.1506G>A (p.Lys502=)
c.1764G>A (p.Lys588=)
c.7539G>A (p.Lys2513=)
c.7458G>A (p.Lys2486=)
n.6809G>A
c.7467G>A (p.Lys2489=)
c.7344G>A (p.Lys2448=)
n.1594G>A
c.4950G>A (p.Lys1650=)
c.7563G>A (p.Lys2521=)
c.5373G>A (p.Lys1791=)
c.5049G>A (p.Lys1683=)
 dbSNP
11g.118503359G>CCA382805693KMT2Ac.7566G>C (p.Lys2522Asn)
c.7557G>C (p.Lys2519Asn)
c.1506G>C (p.Lys502Asn)
c.1764G>C (p.Lys588Asn)
c.7539G>C (p.Lys2513Asn)
c.7458G>C (p.Lys2486Asn)
n.6809G>C
c.7467G>C (p.Lys2489Asn)
c.7344G>C (p.Lys2448Asn)
n.1594G>C
c.4950G>C (p.Lys1650Asn)
c.7563G>C (p.Lys2521Asn)
c.5373G>C (p.Lys1791Asn)
c.5049G>C (p.Lys1683Asn)
11g.118503359G=CA2003527776KMT2Ac.7566G= (p.Lys2522=)
c.7557G= (p.Lys2519=)
c.1506G= (p.Lys502=)
c.1764G= (p.Lys588=)
c.7539G= (p.Lys2513=)
c.7458G= (p.Lys2486=)
n.6809G=
c.7467G= (p.Lys2489=)
c.7344G= (p.Lys2448=)
n.1594G=
c.4950G= (p.Lys1650=)
c.7563G= (p.Lys2521=)
c.5373G= (p.Lys1791=)
c.5049G= (p.Lys1683=)
11g.118503359G>TCA382805692KMT2Ac.7566G>T (p.Lys2522Asn)
c.7557G>T (p.Lys2519Asn)
c.1506G>T (p.Lys502Asn)
c.1764G>T (p.Lys588Asn)
c.7539G>T (p.Lys2513Asn)
c.7458G>T (p.Lys2486Asn)
n.6809G>T
c.7467G>T (p.Lys2489Asn)
c.7344G>T (p.Lys2448Asn)
n.1594G>T
c.4950G>T (p.Lys1650Asn)
c.7563G>T (p.Lys2521Asn)
c.5373G>T (p.Lys1791Asn)
c.5049G>T (p.Lys1683Asn)
11g.118503360A>CCA382805696KMT2Ac.7567A>C (p.Ile2523Leu)
c.7558A>C (p.Ile2520Leu)
c.1507A>C (p.Ile503Leu)
c.1765A>C (p.Ile589Leu)
c.7540A>C (p.Ile2514Leu)
c.7459A>C (p.Ile2487Leu)
n.6810A>C
c.7468A>C (p.Ile2490Leu)
c.7345A>C (p.Ile2449Leu)
n.1595A>C
c.4951A>C (p.Ile1651Leu)
c.7564A>C (p.Ile2522Leu)
c.5374A>C (p.Ile1792Leu)
c.5050A>C (p.Ile1684Leu)
11g.118503360A>GCA382805697KMT2Ac.7567A>G (p.Ile2523Val)
c.7558A>G (p.Ile2520Val)
c.1507A>G (p.Ile503Val)
c.1765A>G (p.Ile589Val)
c.7540A>G (p.Ile2514Val)
c.7459A>G (p.Ile2487Val)
n.6810A>G
c.7468A>G (p.Ile2490Val)
c.7345A>G (p.Ile2449Val)
n.1595A>G
c.4951A>G (p.Ile1651Val)
c.7564A>G (p.Ile2522Val)
c.5374A>G (p.Ile1792Val)
c.5050A>G (p.Ile1684Val)
11g.118503360A>TCA382805699KMT2Ac.7567A>T (p.Ile2523Phe)
c.7558A>T (p.Ile2520Phe)
c.1507A>T (p.Ile503Phe)
c.1765A>T (p.Ile589Phe)
c.7540A>T (p.Ile2514Phe)
c.7459A>T (p.Ile2487Phe)
n.6810A>T
c.7468A>T (p.Ile2490Phe)
c.7345A>T (p.Ile2449Phe)
n.1595A>T
c.4951A>T (p.Ile1651Phe)
c.7564A>T (p.Ile2522Phe)
c.5374A>T (p.Ile1792Phe)
c.5050A>T (p.Ile1684Phe)
11g.118503361T>ACA382805701KMT2Ac.7568T>A (p.Ile2523Asn)
c.7559T>A (p.Ile2520Asn)
c.1508T>A (p.Ile503Asn)
c.1766T>A (p.Ile589Asn)
c.7541T>A (p.Ile2514Asn)
c.7460T>A (p.Ile2487Asn)
n.6811T>A
c.7469T>A (p.Ile2490Asn)
c.7346T>A (p.Ile2449Asn)
n.1596T>A
c.4952T>A (p.Ile1651Asn)
c.7565T>A (p.Ile2522Asn)
c.5375T>A (p.Ile1792Asn)
c.5051T>A (p.Ile1684Asn)
11g.118503361T>CCA382805702KMT2Ac.7568T>C (p.Ile2523Thr)
c.7559T>C (p.Ile2520Thr)
c.1508T>C (p.Ile503Thr)
c.1766T>C (p.Ile589Thr)
c.7541T>C (p.Ile2514Thr)
c.7460T>C (p.Ile2487Thr)
n.6811T>C
c.7469T>C (p.Ile2490Thr)
c.7346T>C (p.Ile2449Thr)
n.1596T>C
c.4952T>C (p.Ile1651Thr)
c.7565T>C (p.Ile2522Thr)
c.5375T>C (p.Ile1792Thr)
c.5051T>C (p.Ile1684Thr)
 ClinVar gnomAD v4
11g.118503361T>GCA382805704KMT2Ac.7568T>G (p.Ile2523Ser)
c.7559T>G (p.Ile2520Ser)
c.1508T>G (p.Ile503Ser)
c.1766T>G (p.Ile589Ser)
c.7541T>G (p.Ile2514Ser)
c.7460T>G (p.Ile2487Ser)
n.6811T>G
c.7469T>G (p.Ile2490Ser)
c.7346T>G (p.Ile2449Ser)
n.1596T>G
c.4952T>G (p.Ile1651Ser)
c.7565T>G (p.Ile2522Ser)
c.5375T>G (p.Ile1792Ser)
c.5051T>G (p.Ile1684Ser)
11g.118503362T>ACA477359449KMT2Ac.7569T>A (p.Ile2523=)
c.7560T>A (p.Ile2520=)
c.1509T>A (p.Ile503=)
c.1767T>A (p.Ile589=)
c.7542T>A (p.Ile2514=)
c.7461T>A (p.Ile2487=)
n.6812T>A
c.7470T>A (p.Ile2490=)
c.7347T>A (p.Ile2449=)
n.1597T>A
c.4953T>A (p.Ile1651=)
c.7566T>A (p.Ile2522=)
c.5376T>A (p.Ile1792=)
c.5052T>A (p.Ile1684=)
11g.118503362T>CCA477359450KMT2Ac.7569T>C (p.Ile2523=)
c.7560T>C (p.Ile2520=)
c.1509T>C (p.Ile503=)
c.1767T>C (p.Ile589=)
c.7542T>C (p.Ile2514=)
c.7461T>C (p.Ile2487=)
n.6812T>C
c.7470T>C (p.Ile2490=)
c.7347T>C (p.Ile2449=)
n.1597T>C
c.4953T>C (p.Ile1651=)
c.7566T>C (p.Ile2522=)
c.5376T>C (p.Ile1792=)
c.5052T>C (p.Ile1684=)
11g.118503362T>GCA382805706KMT2Ac.7569T>G (p.Ile2523Met)
c.7560T>G (p.Ile2520Met)
c.1509T>G (p.Ile503Met)
c.1767T>G (p.Ile589Met)
c.7542T>G (p.Ile2514Met)
c.7461T>G (p.Ile2487Met)
n.6812T>G
c.7470T>G (p.Ile2490Met)
c.7347T>G (p.Ile2449Met)
n.1597T>G
c.4953T>G (p.Ile1651Met)
c.7566T>G (p.Ile2522Met)
c.5376T>G (p.Ile1792Met)
c.5052T>G (p.Ile1684Met)
11g.118503363G>ACA382805708KMT2Ac.7570G>A (p.Gly2524Ser)
c.7561G>A (p.Gly2521Ser)
c.1510G>A (p.Gly504Ser)
c.1768G>A (p.Gly590Ser)
c.7543G>A (p.Gly2515Ser)
c.7462G>A (p.Gly2488Ser)
n.6813G>A
c.7471G>A (p.Gly2491Ser)
c.7348G>A (p.Gly2450Ser)
n.1598G>A
c.4954G>A (p.Gly1652Ser)
c.7567G>A (p.Gly2523Ser)
c.5377G>A (p.Gly1793Ser)
c.5053G>A (p.Gly1685Ser)
11g.118503363G>CCA382805710KMT2Ac.7570G>C (p.Gly2524Arg)
c.7561G>C (p.Gly2521Arg)
c.1510G>C (p.Gly504Arg)
c.1768G>C (p.Gly590Arg)
c.7543G>C (p.Gly2515Arg)
c.7462G>C (p.Gly2488Arg)
n.6813G>C
c.7471G>C (p.Gly2491Arg)
c.7348G>C (p.Gly2450Arg)
n.1598G>C
c.4954G>C (p.Gly1652Arg)
c.7567G>C (p.Gly2523Arg)
c.5377G>C (p.Gly1793Arg)
c.5053G>C (p.Gly1685Arg)
11g.118503363G>TCA382805712KMT2Ac.7570G>T (p.Gly2524Cys)
c.7561G>T (p.Gly2521Cys)
c.1510G>T (p.Gly504Cys)
c.1768G>T (p.Gly590Cys)
c.7543G>T (p.Gly2515Cys)
c.7462G>T (p.Gly2488Cys)
n.6813G>T
c.7471G>T (p.Gly2491Cys)
c.7348G>T (p.Gly2450Cys)
n.1598G>T
c.4954G>T (p.Gly1652Cys)
c.7567G>T (p.Gly2523Cys)
c.5377G>T (p.Gly1793Cys)
c.5053G>T (p.Gly1685Cys)
11g.118503364G>ACA382805713KMT2Ac.7571G>A (p.Gly2524Asp)
c.7562G>A (p.Gly2521Asp)
c.1511G>A (p.Gly504Asp)
c.1769G>A (p.Gly590Asp)
c.7544G>A (p.Gly2515Asp)
c.7463G>A (p.Gly2488Asp)
n.6814G>A
c.7472G>A (p.Gly2491Asp)
c.7349G>A (p.Gly2450Asp)
n.1599G>A
c.4955G>A (p.Gly1652Asp)
c.7568G>A (p.Gly2523Asp)
c.5378G>A (p.Gly1793Asp)
c.5054G>A (p.Gly1685Asp)
 dbSNP gnomAD v4
11g.118503364G>CCA382805715KMT2Ac.7571G>C (p.Gly2524Ala)
c.7562G>C (p.Gly2521Ala)
c.1511G>C (p.Gly504Ala)
c.1769G>C (p.Gly590Ala)
c.7544G>C (p.Gly2515Ala)
c.7463G>C (p.Gly2488Ala)
n.6814G>C
c.7472G>C (p.Gly2491Ala)
c.7349G>C (p.Gly2450Ala)
n.1599G>C
c.4955G>C (p.Gly1652Ala)
c.7568G>C (p.Gly2523Ala)
c.5378G>C (p.Gly1793Ala)
c.5054G>C (p.Gly1685Ala)
11g.118503364G=CA2003527778KMT2Ac.7571G= (p.Gly2524=)
c.7562G= (p.Gly2521=)
c.1511G= (p.Gly504=)
c.1769G= (p.Gly590=)
c.7544G= (p.Gly2515=)
c.7463G= (p.Gly2488=)
n.6814G=
c.7472G= (p.Gly2491=)
c.7349G= (p.Gly2450=)
n.1599G=
c.4955G= (p.Gly1652=)
c.7568G= (p.Gly2523=)
c.5378G= (p.Gly1793=)
c.5054G= (p.Gly1685=)
11g.118503364G>TCA382805716KMT2Ac.7571G>T (p.Gly2524Val)
c.7562G>T (p.Gly2521Val)
c.1511G>T (p.Gly504Val)
c.1769G>T (p.Gly590Val)
c.7544G>T (p.Gly2515Val)
c.7463G>T (p.Gly2488Val)
n.6814G>T
c.7472G>T (p.Gly2491Val)
c.7349G>T (p.Gly2450Val)
n.1599G>T
c.4955G>T (p.Gly1652Val)
c.7568G>T (p.Gly2523Val)
c.5378G>T (p.Gly1793Val)
c.5054G>T (p.Gly1685Val)
11g.118503365T>ACA477359451KMT2Ac.7572T>A (p.Gly2524=)
c.7563T>A (p.Gly2521=)
c.1512T>A (p.Gly504=)
c.1770T>A (p.Gly590=)
c.7545T>A (p.Gly2515=)
c.7464T>A (p.Gly2488=)
n.6815T>A
c.7473T>A (p.Gly2491=)
c.7350T>A (p.Gly2450=)
n.1600T>A
c.4956T>A (p.Gly1652=)
c.7569T>A (p.Gly2523=)
c.5379T>A (p.Gly1793=)
c.5055T>A (p.Gly1685=)
11g.118503365T>CCA477359453KMT2Ac.7572T>C (p.Gly2524=)
c.7563T>C (p.Gly2521=)
c.1512T>C (p.Gly504=)
c.1770T>C (p.Gly590=)
c.7545T>C (p.Gly2515=)
c.7464T>C (p.Gly2488=)
n.6815T>C
c.7473T>C (p.Gly2491=)
c.7350T>C (p.Gly2450=)
n.1600T>C
c.4956T>C (p.Gly1652=)
c.7569T>C (p.Gly2523=)
c.5379T>C (p.Gly1793=)
c.5055T>C (p.Gly1685=)
11g.118503365T>GCA477359452KMT2Ac.7572T>G (p.Gly2524=)
c.7563T>G (p.Gly2521=)
c.1512T>G (p.Gly504=)
c.1770T>G (p.Gly590=)
c.7545T>G (p.Gly2515=)
c.7464T>G (p.Gly2488=)
n.6815T>G
c.7473T>G (p.Gly2491=)
c.7350T>G (p.Gly2450=)
n.1600T>G
c.4956T>G (p.Gly1652=)
c.7569T>G (p.Gly2523=)
c.5379T>G (p.Gly1793=)
c.5055T>G (p.Gly1685=)
11g.118503366G>ACA382805722KMT2Ac.7573G>A (p.Asp2525Asn)
c.7564G>A (p.Asp2522Asn)
c.1513G>A (p.Asp505Asn)
c.1771G>A (p.Asp591Asn)
c.7546G>A (p.Asp2516Asn)
c.7465G>A (p.Asp2489Asn)
n.6816G>A
c.7474G>A (p.Asp2492Asn)
c.7351G>A (p.Asp2451Asn)
n.1601G>A
c.4957G>A (p.Asp1653Asn)
c.7570G>A (p.Asp2524Asn)
c.5380G>A (p.Asp1794Asn)
c.5056G>A (p.Asp1686Asn)
11g.118503366G>CCA382805718KMT2Ac.7573G>C (p.Asp2525His)
c.7564G>C (p.Asp2522His)
c.1513G>C (p.Asp505His)
c.1771G>C (p.Asp591His)
c.7546G>C (p.Asp2516His)
c.7465G>C (p.Asp2489His)
n.6816G>C
c.7474G>C (p.Asp2492His)
c.7351G>C (p.Asp2451His)
n.1601G>C
c.4957G>C (p.Asp1653His)
c.7570G>C (p.Asp2524His)
c.5380G>C (p.Asp1794His)
c.5056G>C (p.Asp1686His)
11g.118503366G>TCA382805720KMT2Ac.7573G>T (p.Asp2525Tyr)
c.7564G>T (p.Asp2522Tyr)
c.1513G>T (p.Asp505Tyr)
c.1771G>T (p.Asp591Tyr)
c.7546G>T (p.Asp2516Tyr)
c.7465G>T (p.Asp2489Tyr)
n.6816G>T
c.7474G>T (p.Asp2492Tyr)
c.7351G>T (p.Asp2451Tyr)
n.1601G>T
c.4957G>T (p.Asp1653Tyr)
c.7570G>T (p.Asp2524Tyr)
c.5380G>T (p.Asp1794Tyr)
c.5056G>T (p.Asp1686Tyr)
11g.118503367A=CA2003527781KMT2Ac.7574A= (p.Asp2525=)
c.7565A= (p.Asp2522=)
c.1514A= (p.Asp505=)
c.1772A= (p.Asp591=)
c.7547A= (p.Asp2516=)
c.7466A= (p.Asp2489=)
n.6817A=
c.7475A= (p.Asp2492=)
c.7352A= (p.Asp2451=)
n.1602A=
c.4958A= (p.Asp1653=)
c.7571A= (p.Asp2524=)
c.5381A= (p.Asp1794=)
c.5057A= (p.Asp1686=)
11g.118503367A>CCA382805723KMT2Ac.7574A>C (p.Asp2525Ala)
c.7565A>C (p.Asp2522Ala)
c.1514A>C (p.Asp505Ala)
c.1772A>C (p.Asp591Ala)
c.7547A>C (p.Asp2516Ala)
c.7466A>C (p.Asp2489Ala)
n.6817A>C
c.7475A>C (p.Asp2492Ala)
c.7352A>C (p.Asp2451Ala)
n.1602A>C
c.4958A>C (p.Asp1653Ala)
c.7571A>C (p.Asp2524Ala)
c.5381A>C (p.Asp1794Ala)
c.5057A>C (p.Asp1686Ala)
11g.118503367A>GCA6304401KMT2Ac.7574A>G (p.Asp2525Gly)
c.7565A>G (p.Asp2522Gly)
c.1514A>G (p.Asp505Gly)
c.1772A>G (p.Asp591Gly)
c.7547A>G (p.Asp2516Gly)
c.7466A>G (p.Asp2489Gly)
n.6817A>G
c.7475A>G (p.Asp2492Gly)
c.7352A>G (p.Asp2451Gly)
n.1602A>G
c.4958A>G (p.Asp1653Gly)
c.7571A>G (p.Asp2524Gly)
c.5381A>G (p.Asp1794Gly)
c.5057A>G (p.Asp1686Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503367A>TCA382805726KMT2Ac.7574A>T (p.Asp2525Val)
c.7565A>T (p.Asp2522Val)
c.1514A>T (p.Asp505Val)
c.1772A>T (p.Asp591Val)
c.7547A>T (p.Asp2516Val)
c.7466A>T (p.Asp2489Val)
n.6817A>T
c.7475A>T (p.Asp2492Val)
c.7352A>T (p.Asp2451Val)
n.1602A>T
c.4958A>T (p.Asp1653Val)
c.7571A>T (p.Asp2524Val)
c.5381A>T (p.Asp1794Val)
c.5057A>T (p.Asp1686Val)
11g.118503368T>ACA382805727KMT2Ac.7575T>A (p.Asp2525Glu)
c.7566T>A (p.Asp2522Glu)
c.1515T>A (p.Asp505Glu)
c.1773T>A (p.Asp591Glu)
c.7548T>A (p.Asp2516Glu)
c.7467T>A (p.Asp2489Glu)
n.6818T>A
c.7476T>A (p.Asp2492Glu)
c.7353T>A (p.Asp2451Glu)
n.1603T>A
c.4959T>A (p.Asp1653Glu)
c.7572T>A (p.Asp2524Glu)
c.5382T>A (p.Asp1794Glu)
c.5058T>A (p.Asp1686Glu)
 dbSNP
11g.118503368T>CCA477359454KMT2Ac.7575T>C (p.Asp2525=)
c.7566T>C (p.Asp2522=)
c.1515T>C (p.Asp505=)
c.1773T>C (p.Asp591=)
c.7548T>C (p.Asp2516=)
c.7467T>C (p.Asp2489=)
n.6818T>C
c.7476T>C (p.Asp2492=)
c.7353T>C (p.Asp2451=)
n.1603T>C
c.4959T>C (p.Asp1653=)
c.7572T>C (p.Asp2524=)
c.5382T>C (p.Asp1794=)
c.5058T>C (p.Asp1686=)
11g.118503368T>GCA382805729KMT2Ac.7575T>G (p.Asp2525Glu)
c.7566T>G (p.Asp2522Glu)
c.1515T>G (p.Asp505Glu)
c.1773T>G (p.Asp591Glu)
c.7548T>G (p.Asp2516Glu)
c.7467T>G (p.Asp2489Glu)
n.6818T>G
c.7476T>G (p.Asp2492Glu)
c.7353T>G (p.Asp2451Glu)
n.1603T>G
c.4959T>G (p.Asp1653Glu)
c.7572T>G (p.Asp2524Glu)
c.5382T>G (p.Asp1794Glu)
c.5058T>G (p.Asp1686Glu)
11g.118503369A=CA2003527784KMT2Ac.7576A= (p.Lys2526=)
c.7567A= (p.Lys2523=)
c.1516A= (p.Lys506=)
c.1774A= (p.Lys592=)
c.7549A= (p.Lys2517=)
c.7468A= (p.Lys2490=)
n.6819A=
c.7477A= (p.Lys2493=)
c.7354A= (p.Lys2452=)
n.1604A=
c.4960A= (p.Lys1654=)
c.7573A= (p.Lys2525=)
c.5383A= (p.Lys1795=)
c.5059A= (p.Lys1687=)
11g.118503369A>CCA382805731KMT2Ac.7576A>C (p.Lys2526Gln)
c.7567A>C (p.Lys2523Gln)
c.1516A>C (p.Lys506Gln)
c.1774A>C (p.Lys592Gln)
c.7549A>C (p.Lys2517Gln)
c.7468A>C (p.Lys2490Gln)
n.6819A>C
c.7477A>C (p.Lys2493Gln)
c.7354A>C (p.Lys2452Gln)
n.1604A>C
c.4960A>C (p.Lys1654Gln)
c.7573A>C (p.Lys2525Gln)
c.5383A>C (p.Lys1795Gln)
c.5059A>C (p.Lys1687Gln)
11g.118503369A>GCA382805733KMT2Ac.7576A>G (p.Lys2526Glu)
c.7567A>G (p.Lys2523Glu)
c.1516A>G (p.Lys506Glu)
c.1774A>G (p.Lys592Glu)
c.7549A>G (p.Lys2517Glu)
c.7468A>G (p.Lys2490Glu)
n.6819A>G
c.7477A>G (p.Lys2493Glu)
c.7354A>G (p.Lys2452Glu)
n.1604A>G
c.4960A>G (p.Lys1654Glu)
c.7573A>G (p.Lys2525Glu)
c.5383A>G (p.Lys1795Glu)
c.5059A>G (p.Lys1687Glu)
 ClinVar dbSNP gnomAD v4
11g.118503369A>TCA382805735KMT2Ac.7576A>T (p.Lys2526Ter)
c.7567A>T (p.Lys2523Ter)
c.1516A>T (p.Lys506Ter)
c.1774A>T (p.Lys592Ter)
c.7549A>T (p.Lys2517Ter)
c.7468A>T (p.Lys2490Ter)
n.6819A>T
c.7477A>T (p.Lys2493Ter)
c.7354A>T (p.Lys2452Ter)
n.1604A>T
c.4960A>T (p.Lys1654Ter)
c.7573A>T (p.Lys2525Ter)
c.5383A>T (p.Lys1795Ter)
c.5059A>T (p.Lys1687Ter)
11g.118503370A>CCA382805736KMT2Ac.7577A>C (p.Lys2526Thr)
c.7568A>C (p.Lys2523Thr)
c.1517A>C (p.Lys506Thr)
c.1775A>C (p.Lys592Thr)
c.7550A>C (p.Lys2517Thr)
c.7469A>C (p.Lys2490Thr)
n.6820A>C
c.7478A>C (p.Lys2493Thr)
c.7355A>C (p.Lys2452Thr)
n.1605A>C
c.4961A>C (p.Lys1654Thr)
c.7574A>C (p.Lys2525Thr)
c.5384A>C (p.Lys1795Thr)
c.5060A>C (p.Lys1687Thr)
11g.118503370A>GCA382805738KMT2Ac.7577A>G (p.Lys2526Arg)
c.7568A>G (p.Lys2523Arg)
c.1517A>G (p.Lys506Arg)
c.1775A>G (p.Lys592Arg)
c.7550A>G (p.Lys2517Arg)
c.7469A>G (p.Lys2490Arg)
n.6820A>G
c.7478A>G (p.Lys2493Arg)
c.7355A>G (p.Lys2452Arg)
n.1605A>G
c.4961A>G (p.Lys1654Arg)
c.7574A>G (p.Lys2525Arg)
c.5384A>G (p.Lys1795Arg)
c.5060A>G (p.Lys1687Arg)
 gnomAD v4
11g.118503370A>TCA382805739KMT2Ac.7577A>T (p.Lys2526Ile)
c.7568A>T (p.Lys2523Ile)
c.1517A>T (p.Lys506Ile)
c.1775A>T (p.Lys592Ile)
c.7550A>T (p.Lys2517Ile)
c.7469A>T (p.Lys2490Ile)
n.6820A>T
c.7478A>T (p.Lys2493Ile)
c.7355A>T (p.Lys2452Ile)
n.1605A>T
c.4961A>T (p.Lys1654Ile)
c.7574A>T (p.Lys2525Ile)
c.5384A>T (p.Lys1795Ile)
c.5060A>T (p.Lys1687Ile)
11g.118503371A=CA2003527786KMT2Ac.7578A= (p.Lys2526=)
c.7569A= (p.Lys2523=)
c.1518A= (p.Lys506=)
c.1776A= (p.Lys592=)
c.7551A= (p.Lys2517=)
c.7470A= (p.Lys2490=)
n.6821A=
c.7479A= (p.Lys2493=)
c.7356A= (p.Lys2452=)
n.1606A=
c.4962A= (p.Lys1654=)
c.7575A= (p.Lys2525=)
c.5385A= (p.Lys1795=)
c.5061A= (p.Lys1687=)
11g.118503371A>CCA382805741KMT2Ac.7578A>C (p.Lys2526Asn)
c.7569A>C (p.Lys2523Asn)
c.1518A>C (p.Lys506Asn)
c.1776A>C (p.Lys592Asn)
c.7551A>C (p.Lys2517Asn)
c.7470A>C (p.Lys2490Asn)
n.6821A>C
c.7479A>C (p.Lys2493Asn)
c.7356A>C (p.Lys2452Asn)
n.1606A>C
c.4962A>C (p.Lys1654Asn)
c.7575A>C (p.Lys2525Asn)
c.5385A>C (p.Lys1795Asn)
c.5061A>C (p.Lys1687Asn)
11g.118503371A>GCA477359455KMT2Ac.7578A>G (p.Lys2526=)
c.7569A>G (p.Lys2523=)
c.1518A>G (p.Lys506=)
c.1776A>G (p.Lys592=)
c.7551A>G (p.Lys2517=)
c.7470A>G (p.Lys2490=)
n.6821A>G
c.7479A>G (p.Lys2493=)
c.7356A>G (p.Lys2452=)
n.1606A>G
c.4962A>G (p.Lys1654=)
c.7575A>G (p.Lys2525=)
c.5385A>G (p.Lys1795=)
c.5061A>G (p.Lys1687=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503371A>TCA382805742KMT2Ac.7578A>T (p.Lys2526Asn)
c.7569A>T (p.Lys2523Asn)
c.1518A>T (p.Lys506Asn)
c.1776A>T (p.Lys592Asn)
c.7551A>T (p.Lys2517Asn)
c.7470A>T (p.Lys2490Asn)
n.6821A>T
c.7479A>T (p.Lys2493Asn)
c.7356A>T (p.Lys2452Asn)
n.1606A>T
c.4962A>T (p.Lys1654Asn)
c.7575A>T (p.Lys2525Asn)
c.5385A>T (p.Lys1795Asn)
c.5061A>T (p.Lys1687Asn)
11g.118503372G>ACA382805743KMT2Ac.7579G>A (p.Gly2527Ser)
c.7570G>A (p.Gly2524Ser)
c.1519G>A (p.Gly507Ser)
c.1777G>A (p.Gly593Ser)
c.7552G>A (p.Gly2518Ser)
c.7471G>A (p.Gly2491Ser)
n.6822G>A
c.7480G>A (p.Gly2494Ser)
c.7357G>A (p.Gly2453Ser)
n.1607G>A
c.4963G>A (p.Gly1655Ser)
c.7576G>A (p.Gly2526Ser)
c.5386G>A (p.Gly1796Ser)
c.5062G>A (p.Gly1688Ser)
11g.118503372G>CCA382805746KMT2Ac.7579G>C (p.Gly2527Arg)
c.7570G>C (p.Gly2524Arg)
c.1519G>C (p.Gly507Arg)
c.1777G>C (p.Gly593Arg)
c.7552G>C (p.Gly2518Arg)
c.7471G>C (p.Gly2491Arg)
n.6822G>C
c.7480G>C (p.Gly2494Arg)
c.7357G>C (p.Gly2453Arg)
n.1607G>C
c.4963G>C (p.Gly1655Arg)
c.7576G>C (p.Gly2526Arg)
c.5386G>C (p.Gly1796Arg)
c.5062G>C (p.Gly1688Arg)
11g.118503372G>TCA382805744KMT2Ac.7579G>T (p.Gly2527Cys)
c.7570G>T (p.Gly2524Cys)
c.1519G>T (p.Gly507Cys)
c.1777G>T (p.Gly593Cys)
c.7552G>T (p.Gly2518Cys)
c.7471G>T (p.Gly2491Cys)
n.6822G>T
c.7480G>T (p.Gly2494Cys)
c.7357G>T (p.Gly2453Cys)
n.1607G>T
c.4963G>T (p.Gly1655Cys)
c.7576G>T (p.Gly2526Cys)
c.5386G>T (p.Gly1796Cys)
c.5062G>T (p.Gly1688Cys)
 dbSNP
11g.118503373G>ACA382805748KMT2Ac.7580G>A (p.Gly2527Asp)
c.7571G>A (p.Gly2524Asp)
c.1520G>A (p.Gly507Asp)
c.1778G>A (p.Gly593Asp)
c.7553G>A (p.Gly2518Asp)
c.7472G>A (p.Gly2491Asp)
n.6823G>A
c.7481G>A (p.Gly2494Asp)
c.7358G>A (p.Gly2453Asp)
n.1608G>A
c.4964G>A (p.Gly1655Asp)
c.7577G>A (p.Gly2526Asp)
c.5387G>A (p.Gly1796Asp)
c.5063G>A (p.Gly1688Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503373G>CCA382805750KMT2Ac.7580G>C (p.Gly2527Ala)
c.7571G>C (p.Gly2524Ala)
c.1520G>C (p.Gly507Ala)
c.1778G>C (p.Gly593Ala)
c.7553G>C (p.Gly2518Ala)
c.7472G>C (p.Gly2491Ala)
n.6823G>C
c.7481G>C (p.Gly2494Ala)
c.7358G>C (p.Gly2453Ala)
n.1608G>C
c.4964G>C (p.Gly1655Ala)
c.7577G>C (p.Gly2526Ala)
c.5387G>C (p.Gly1796Ala)
c.5063G>C (p.Gly1688Ala)
11g.118503373G=CA2003527789KMT2Ac.7580G= (p.Gly2527=)
c.7571G= (p.Gly2524=)
c.1520G= (p.Gly507=)
c.1778G= (p.Gly593=)
c.7553G= (p.Gly2518=)
c.7472G= (p.Gly2491=)
n.6823G=
c.7481G= (p.Gly2494=)
c.7358G= (p.Gly2453=)
n.1608G=
c.4964G= (p.Gly1655=)
c.7577G= (p.Gly2526=)
c.5387G= (p.Gly1796=)
c.5063G= (p.Gly1688=)
11g.118503373G>TCA382805751KMT2Ac.7580G>T (p.Gly2527Val)
c.7571G>T (p.Gly2524Val)
c.1520G>T (p.Gly507Val)
c.1778G>T (p.Gly593Val)
c.7553G>T (p.Gly2518Val)
c.7472G>T (p.Gly2491Val)
n.6823G>T
c.7481G>T (p.Gly2494Val)
c.7358G>T (p.Gly2453Val)
n.1608G>T
c.4964G>T (p.Gly1655Val)
c.7577G>T (p.Gly2526Val)
c.5387G>T (p.Gly1796Val)
c.5063G>T (p.Gly1688Val)
11g.118503374C>ACA477359456KMT2Ac.7581C>A (p.Gly2527=)
c.7572C>A (p.Gly2524=)
c.1521C>A (p.Gly507=)
c.1779C>A (p.Gly593=)
c.7554C>A (p.Gly2518=)
c.7473C>A (p.Gly2491=)
n.6824C>A
c.7482C>A (p.Gly2494=)
c.7359C>A (p.Gly2453=)
n.1609C>A
c.4965C>A (p.Gly1655=)
c.7578C>A (p.Gly2526=)
c.5388C>A (p.Gly1796=)
c.5064C>A (p.Gly1688=)
11g.118503374C=CA2003527794KMT2Ac.7581C= (p.Gly2527=)
c.7572C= (p.Gly2524=)
c.1521C= (p.Gly507=)
c.1779C= (p.Gly593=)
c.7554C= (p.Gly2518=)
c.7473C= (p.Gly2491=)
n.6824C=
c.7482C= (p.Gly2494=)
c.7359C= (p.Gly2453=)
n.1609C=
c.4965C= (p.Gly1655=)
c.7578C= (p.Gly2526=)
c.5388C= (p.Gly1796=)
c.5064C= (p.Gly1688=)
11g.118503374C>GCA477359457KMT2Ac.7581C>G (p.Gly2527=)
c.7572C>G (p.Gly2524=)
c.1521C>G (p.Gly507=)
c.1779C>G (p.Gly593=)
c.7554C>G (p.Gly2518=)
c.7473C>G (p.Gly2491=)
n.6824C>G
c.7482C>G (p.Gly2494=)
c.7359C>G (p.Gly2453=)
n.1609C>G
c.4965C>G (p.Gly1655=)
c.7578C>G (p.Gly2526=)
c.5388C>G (p.Gly1796=)
c.5064C>G (p.Gly1688=)
11g.118503374C>TCA477359458KMT2Ac.7581C>T (p.Gly2527=)
c.7572C>T (p.Gly2524=)
c.1521C>T (p.Gly507=)
c.1779C>T (p.Gly593=)
c.7554C>T (p.Gly2518=)
c.7473C>T (p.Gly2491=)
n.6824C>T
c.7482C>T (p.Gly2494=)
c.7359C>T (p.Gly2453=)
n.1609C>T
c.4965C>T (p.Gly1655=)
c.7578C>T (p.Gly2526=)
c.5388C>T (p.Gly1796=)
c.5064C>T (p.Gly1688=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503375C>ACA382805753KMT2Ac.7582C>A (p.Leu2528Ile)
c.7573C>A (p.Leu2525Ile)
c.1522C>A (p.Leu508Ile)
c.1780C>A (p.Leu594Ile)
c.7555C>A (p.Leu2519Ile)
c.7474C>A (p.Leu2492Ile)
n.6825C>A
c.7483C>A (p.Leu2495Ile)
c.7360C>A (p.Leu2454Ile)
n.1610C>A
c.4966C>A (p.Leu1656Ile)
c.7579C>A (p.Leu2527Ile)
c.5389C>A (p.Leu1797Ile)
c.5065C>A (p.Leu1689Ile)
11g.118503375C=CA2003527798KMT2Ac.7582C= (p.Leu2528=)
c.7573C= (p.Leu2525=)
c.1522C= (p.Leu508=)
c.1780C= (p.Leu594=)
c.7555C= (p.Leu2519=)
c.7474C= (p.Leu2492=)
n.6825C=
c.7483C= (p.Leu2495=)
c.7360C= (p.Leu2454=)
n.1610C=
c.4966C= (p.Leu1656=)
c.7579C= (p.Leu2527=)
c.5389C= (p.Leu1797=)
c.5065C= (p.Leu1689=)
11g.118503375C>GCA382805754KMT2Ac.7582C>G (p.Leu2528Val)
c.7573C>G (p.Leu2525Val)
c.1522C>G (p.Leu508Val)
c.1780C>G (p.Leu594Val)
c.7555C>G (p.Leu2519Val)
c.7474C>G (p.Leu2492Val)
n.6825C>G
c.7483C>G (p.Leu2495Val)
c.7360C>G (p.Leu2454Val)
n.1610C>G
c.4966C>G (p.Leu1656Val)
c.7579C>G (p.Leu2527Val)
c.5389C>G (p.Leu1797Val)
c.5065C>G (p.Leu1689Val)
11g.118503375C>TCA382805755KMT2Ac.7582C>T (p.Leu2528Phe)
c.7573C>T (p.Leu2525Phe)
c.1522C>T (p.Leu508Phe)
c.1780C>T (p.Leu594Phe)
c.7555C>T (p.Leu2519Phe)
c.7474C>T (p.Leu2492Phe)
n.6825C>T
c.7483C>T (p.Leu2495Phe)
c.7360C>T (p.Leu2454Phe)
n.1610C>T
c.4966C>T (p.Leu1656Phe)
c.7579C>T (p.Leu2527Phe)
c.5389C>T (p.Leu1797Phe)
c.5065C>T (p.Leu1689Phe)
 dbSNP gnomAD v4
11g.118503376T>ACA382805756KMT2Ac.7583T>A (p.Leu2528His)
c.7574T>A (p.Leu2525His)
c.1523T>A (p.Leu508His)
c.1781T>A (p.Leu594His)
c.7556T>A (p.Leu2519His)
c.7475T>A (p.Leu2492His)
n.6826T>A
c.7484T>A (p.Leu2495His)
c.7361T>A (p.Leu2454His)
n.1611T>A
c.4967T>A (p.Leu1656His)
c.7580T>A (p.Leu2527His)
c.5390T>A (p.Leu1797His)
c.5066T>A (p.Leu1689His)
11g.118503376T>CCA382805757KMT2Ac.7583T>C (p.Leu2528Pro)
c.7574T>C (p.Leu2525Pro)
c.1523T>C (p.Leu508Pro)
c.1781T>C (p.Leu594Pro)
c.7556T>C (p.Leu2519Pro)
c.7475T>C (p.Leu2492Pro)
n.6826T>C
c.7484T>C (p.Leu2495Pro)
c.7361T>C (p.Leu2454Pro)
n.1611T>C
c.4967T>C (p.Leu1656Pro)
c.7580T>C (p.Leu2527Pro)
c.5390T>C (p.Leu1797Pro)
c.5066T>C (p.Leu1689Pro)
11g.118503376T>GCA382805758KMT2Ac.7583T>G (p.Leu2528Arg)
c.7574T>G (p.Leu2525Arg)
c.1523T>G (p.Leu508Arg)
c.1781T>G (p.Leu594Arg)
c.7556T>G (p.Leu2519Arg)
c.7475T>G (p.Leu2492Arg)
n.6826T>G
c.7484T>G (p.Leu2495Arg)
c.7361T>G (p.Leu2454Arg)
n.1611T>G
c.4967T>G (p.Leu1656Arg)
c.7580T>G (p.Leu2527Arg)
c.5390T>G (p.Leu1797Arg)
c.5066T>G (p.Leu1689Arg)
11g.118503377T>ACA477359459KMT2Ac.7584T>A (p.Leu2528=)
c.7575T>A (p.Leu2525=)
c.1524T>A (p.Leu508=)
c.1782T>A (p.Leu594=)
c.7557T>A (p.Leu2519=)
c.7476T>A (p.Leu2492=)
n.6827T>A
c.7485T>A (p.Leu2495=)
c.7362T>A (p.Leu2454=)
n.1612T>A
c.4968T>A (p.Leu1656=)
c.7581T>A (p.Leu2527=)
c.5391T>A (p.Leu1797=)
c.5067T>A (p.Leu1689=)
11g.118503377T>CCA477359460KMT2Ac.7584T>C (p.Leu2528=)
c.7575T>C (p.Leu2525=)
c.1524T>C (p.Leu508=)
c.1782T>C (p.Leu594=)
c.7557T>C (p.Leu2519=)
c.7476T>C (p.Leu2492=)
n.6827T>C
c.7485T>C (p.Leu2495=)
c.7362T>C (p.Leu2454=)
n.1612T>C
c.4968T>C (p.Leu1656=)
c.7581T>C (p.Leu2527=)
c.5391T>C (p.Leu1797=)
c.5067T>C (p.Leu1689=)
11g.118503377T>GCA477359461KMT2Ac.7584T>G (p.Leu2528=)
c.7575T>G (p.Leu2525=)
c.1524T>G (p.Leu508=)
c.1782T>G (p.Leu594=)
c.7557T>G (p.Leu2519=)
c.7476T>G (p.Leu2492=)
n.6827T>G
c.7485T>G (p.Leu2495=)
c.7362T>G (p.Leu2454=)
n.1612T>G
c.4968T>G (p.Leu1656=)
c.7581T>G (p.Leu2527=)
c.5391T>G (p.Leu1797=)
c.5067T>G (p.Leu1689=)
11g.118503378T>ACA382805760KMT2Ac.7585T>A (p.Ser2529Thr)
c.7576T>A (p.Ser2526Thr)
c.1525T>A (p.Ser509Thr)
c.1783T>A (p.Ser595Thr)
c.7558T>A (p.Ser2520Thr)
c.7477T>A (p.Ser2493Thr)
n.6828T>A
c.7486T>A (p.Ser2496Thr)
c.7363T>A (p.Ser2455Thr)
n.1613T>A
c.4969T>A (p.Ser1657Thr)
c.7582T>A (p.Ser2528Thr)
c.5392T>A (p.Ser1798Thr)
c.5068T>A (p.Ser1690Thr)
11g.118503378T>CCA382805762KMT2Ac.7585T>C (p.Ser2529Pro)
c.7576T>C (p.Ser2526Pro)
c.1525T>C (p.Ser509Pro)
c.1783T>C (p.Ser595Pro)
c.7558T>C (p.Ser2520Pro)
c.7477T>C (p.Ser2493Pro)
n.6828T>C
c.7486T>C (p.Ser2496Pro)
c.7363T>C (p.Ser2455Pro)
n.1613T>C
c.4969T>C (p.Ser1657Pro)
c.7582T>C (p.Ser2528Pro)
c.5392T>C (p.Ser1798Pro)
c.5068T>C (p.Ser1690Pro)
11g.118503378T>GCA382805763KMT2Ac.7585T>G (p.Ser2529Ala)
c.7576T>G (p.Ser2526Ala)
c.1525T>G (p.Ser509Ala)
c.1783T>G (p.Ser595Ala)
c.7558T>G (p.Ser2520Ala)
c.7477T>G (p.Ser2493Ala)
n.6828T>G
c.7486T>G (p.Ser2496Ala)
c.7363T>G (p.Ser2455Ala)
n.1613T>G
c.4969T>G (p.Ser1657Ala)
c.7582T>G (p.Ser2528Ala)
c.5392T>G (p.Ser1798Ala)
c.5068T>G (p.Ser1690Ala)
11g.118503379C>ACA382805768KMT2Ac.7586C>A (p.Ser2529Tyr)
c.7577C>A (p.Ser2526Tyr)
c.1526C>A (p.Ser509Tyr)
c.1784C>A (p.Ser595Tyr)
c.7559C>A (p.Ser2520Tyr)
c.7478C>A (p.Ser2493Tyr)
n.6829C>A
c.7487C>A (p.Ser2496Tyr)
c.7364C>A (p.Ser2455Tyr)
n.1614C>A
c.4970C>A (p.Ser1657Tyr)
c.7583C>A (p.Ser2528Tyr)
c.5393C>A (p.Ser1798Tyr)
c.5069C>A (p.Ser1690Tyr)
11g.118503379C>GCA382805766KMT2Ac.7586C>G (p.Ser2529Cys)
c.7577C>G (p.Ser2526Cys)
c.1526C>G (p.Ser509Cys)
c.1784C>G (p.Ser595Cys)
c.7559C>G (p.Ser2520Cys)
c.7478C>G (p.Ser2493Cys)
n.6829C>G
c.7487C>G (p.Ser2496Cys)
c.7364C>G (p.Ser2455Cys)
n.1614C>G
c.4970C>G (p.Ser1657Cys)
c.7583C>G (p.Ser2528Cys)
c.5393C>G (p.Ser1798Cys)
c.5069C>G (p.Ser1690Cys)
11g.118503379C>TCA382805765KMT2Ac.7586C>T (p.Ser2529Phe)
c.7577C>T (p.Ser2526Phe)
c.1526C>T (p.Ser509Phe)
c.1784C>T (p.Ser595Phe)
c.7559C>T (p.Ser2520Phe)
c.7478C>T (p.Ser2493Phe)
n.6829C>T
c.7487C>T (p.Ser2496Phe)
c.7364C>T (p.Ser2455Phe)
n.1614C>T
c.4970C>T (p.Ser1657Phe)
c.7583C>T (p.Ser2528Phe)
c.5393C>T (p.Ser1798Phe)
c.5069C>T (p.Ser1690Phe)
 COSMIC COSMIC
11g.118503380T>ACA477359462KMT2Ac.7587T>A (p.Ser2529=)
c.7578T>A (p.Ser2526=)
c.1527T>A (p.Ser509=)
c.1785T>A (p.Ser595=)
c.7560T>A (p.Ser2520=)
c.7479T>A (p.Ser2493=)
n.6830T>A
c.7488T>A (p.Ser2496=)
c.7365T>A (p.Ser2455=)
n.1615T>A
c.4971T>A (p.Ser1657=)
c.7584T>A (p.Ser2528=)
c.5394T>A (p.Ser1798=)
c.5070T>A (p.Ser1690=)
 dbSNP
11g.118503380T>CCA477359463KMT2Ac.7587T>C (p.Ser2529=)
c.7578T>C (p.Ser2526=)
c.1527T>C (p.Ser509=)
c.1785T>C (p.Ser595=)
c.7560T>C (p.Ser2520=)
c.7479T>C (p.Ser2493=)
n.6830T>C
c.7488T>C (p.Ser2496=)
c.7365T>C (p.Ser2455=)
n.1615T>C
c.4971T>C (p.Ser1657=)
c.7584T>C (p.Ser2528=)
c.5394T>C (p.Ser1798=)
c.5070T>C (p.Ser1690=)
11g.118503380T>GCA477359464KMT2Ac.7587T>G (p.Ser2529=)
c.7578T>G (p.Ser2526=)
c.1527T>G (p.Ser509=)
c.1785T>G (p.Ser595=)
c.7560T>G (p.Ser2520=)
c.7479T>G (p.Ser2493=)
n.6830T>G
c.7488T>G (p.Ser2496=)
c.7365T>G (p.Ser2455=)
n.1615T>G
c.4971T>G (p.Ser1657=)
c.7584T>G (p.Ser2528=)
c.5394T>G (p.Ser1798=)
c.5070T>G (p.Ser1690=)
11g.118503380T=CA2003527801KMT2Ac.7587T= (p.Ser2529=)
c.7578T= (p.Ser2526=)
c.1527T= (p.Ser509=)
c.1785T= (p.Ser595=)
c.7560T= (p.Ser2520=)
c.7479T= (p.Ser2493=)
n.6830T=
c.7488T= (p.Ser2496=)
c.7365T= (p.Ser2455=)
n.1615T=
c.4971T= (p.Ser1657=)
c.7584T= (p.Ser2528=)
c.5394T= (p.Ser1798=)
c.5070T= (p.Ser1690=)
11g.118503381A>CCA382805770KMT2Ac.7588A>C (p.Met2530Leu)
c.7579A>C (p.Met2527Leu)
c.1528A>C (p.Met510Leu)
c.1786A>C (p.Met596Leu)
c.7561A>C (p.Met2521Leu)
c.7480A>C (p.Met2494Leu)
n.6831A>C
c.7489A>C (p.Met2497Leu)
c.7366A>C (p.Met2456Leu)
n.1616A>C
c.4972A>C (p.Met1658Leu)
c.7585A>C (p.Met2529Leu)
c.5395A>C (p.Met1799Leu)
c.5071A>C (p.Met1691Leu)
11g.118503381A>GCA382805772KMT2Ac.7588A>G (p.Met2530Val)
c.7579A>G (p.Met2527Val)
c.1528A>G (p.Met510Val)
c.1786A>G (p.Met596Val)
c.7561A>G (p.Met2521Val)
c.7480A>G (p.Met2494Val)
n.6831A>G
c.7489A>G (p.Met2497Val)
c.7366A>G (p.Met2456Val)
n.1616A>G
c.4972A>G (p.Met1658Val)
c.7585A>G (p.Met2529Val)
c.5395A>G (p.Met1799Val)
c.5071A>G (p.Met1691Val)
11g.118503381A>TCA382805773KMT2Ac.7588A>T (p.Met2530Leu)
c.7579A>T (p.Met2527Leu)
c.1528A>T (p.Met510Leu)
c.1786A>T (p.Met596Leu)
c.7561A>T (p.Met2521Leu)
c.7480A>T (p.Met2494Leu)
n.6831A>T
c.7489A>T (p.Met2497Leu)
c.7366A>T (p.Met2456Leu)
n.1616A>T
c.4972A>T (p.Met1658Leu)
c.7585A>T (p.Met2529Leu)
c.5395A>T (p.Met1799Leu)
c.5071A>T (p.Met1691Leu)
11g.118503382T>ACA382805775KMT2Ac.7589T>A (p.Met2530Lys)
c.7580T>A (p.Met2527Lys)
c.1529T>A (p.Met510Lys)
c.1787T>A (p.Met596Lys)
c.7562T>A (p.Met2521Lys)
c.7481T>A (p.Met2494Lys)
n.6832T>A
c.7490T>A (p.Met2497Lys)
c.7367T>A (p.Met2456Lys)
n.1617T>A
c.4973T>A (p.Met1658Lys)
c.7586T>A (p.Met2529Lys)
c.5396T>A (p.Met1799Lys)
c.5072T>A (p.Met1691Lys)
11g.118503382T>CCA382805777KMT2Ac.7589T>C (p.Met2530Thr)
c.7580T>C (p.Met2527Thr)
c.1529T>C (p.Met510Thr)
c.1787T>C (p.Met596Thr)
c.7562T>C (p.Met2521Thr)
c.7481T>C (p.Met2494Thr)
n.6832T>C
c.7490T>C (p.Met2497Thr)
c.7367T>C (p.Met2456Thr)
n.1617T>C
c.4973T>C (p.Met1658Thr)
c.7586T>C (p.Met2529Thr)
c.5396T>C (p.Met1799Thr)
c.5072T>C (p.Met1691Thr)
 dbSNP gnomAD v4
11g.118503382T>GCA382805779KMT2Ac.7589T>G (p.Met2530Arg)
c.7580T>G (p.Met2527Arg)
c.1529T>G (p.Met510Arg)
c.1787T>G (p.Met596Arg)
c.7562T>G (p.Met2521Arg)
c.7481T>G (p.Met2494Arg)
n.6832T>G
c.7490T>G (p.Met2497Arg)
c.7367T>G (p.Met2456Arg)
n.1617T>G
c.4973T>G (p.Met1658Arg)
c.7586T>G (p.Met2529Arg)
c.5396T>G (p.Met1799Arg)
c.5072T>G (p.Met1691Arg)
11g.118503382T=CA2003527804KMT2Ac.7589T= (p.Met2530=)
c.7580T= (p.Met2527=)
c.1529T= (p.Met510=)
c.1787T= (p.Met596=)
c.7562T= (p.Met2521=)
c.7481T= (p.Met2494=)
n.6832T=
c.7490T= (p.Met2497=)
c.7367T= (p.Met2456=)
n.1617T=
c.4973T= (p.Met1658=)
c.7586T= (p.Met2529=)
c.5396T= (p.Met1799=)
c.5072T= (p.Met1691=)
11g.118503383G>ACA382805781KMT2Ac.7590G>A (p.Met2530Ile)
c.7581G>A (p.Met2527Ile)
c.1530G>A (p.Met510Ile)
c.1788G>A (p.Met596Ile)
c.7563G>A (p.Met2521Ile)
c.7482G>A (p.Met2494Ile)
n.6833G>A
c.7491G>A (p.Met2497Ile)
c.7368G>A (p.Met2456Ile)
n.1618G>A
c.4974G>A (p.Met1658Ile)
c.7587G>A (p.Met2529Ile)
c.5397G>A (p.Met1799Ile)
c.5073G>A (p.Met1691Ile)
 dbSNP
11g.118503383G>CCA382805782KMT2Ac.7590G>C (p.Met2530Ile)
c.7581G>C (p.Met2527Ile)
c.1530G>C (p.Met510Ile)
c.1788G>C (p.Met596Ile)
c.7563G>C (p.Met2521Ile)
c.7482G>C (p.Met2494Ile)
n.6833G>C
c.7491G>C (p.Met2497Ile)
c.7368G>C (p.Met2456Ile)
n.1618G>C
c.4974G>C (p.Met1658Ile)
c.7587G>C (p.Met2529Ile)
c.5397G>C (p.Met1799Ile)
c.5073G>C (p.Met1691Ile)
11g.118503383G>TCA382805783KMT2Ac.7590G>T (p.Met2530Ile)
c.7581G>T (p.Met2527Ile)
c.1530G>T (p.Met510Ile)
c.1788G>T (p.Met596Ile)
c.7563G>T (p.Met2521Ile)
c.7482G>T (p.Met2494Ile)
n.6833G>T
c.7491G>T (p.Met2497Ile)
c.7368G>T (p.Met2456Ile)
n.1618G>T
c.4974G>T (p.Met1658Ile)
c.7587G>T (p.Met2529Ile)
c.5397G>T (p.Met1799Ile)
c.5073G>T (p.Met1691Ile)
11g.118503384C>ACA382805784KMT2Ac.7591C>A (p.Pro2531Thr)
c.7582C>A (p.Pro2528Thr)
c.1531C>A (p.Pro511Thr)
c.1789C>A (p.Pro597Thr)
c.7564C>A (p.Pro2522Thr)
c.7483C>A (p.Pro2495Thr)
n.6834C>A
c.7492C>A (p.Pro2498Thr)
c.7369C>A (p.Pro2457Thr)
n.1619C>A
c.4975C>A (p.Pro1659Thr)
c.7588C>A (p.Pro2530Thr)
c.5398C>A (p.Pro1800Thr)
c.5074C>A (p.Pro1692Thr)
 ClinVar dbSNP gnomAD v4
11g.118503384C=CA2003527809KMT2Ac.7591C= (p.Pro2531=)
c.7582C= (p.Pro2528=)
c.1531C= (p.Pro511=)
c.1789C= (p.Pro597=)
c.7564C= (p.Pro2522=)
c.7483C= (p.Pro2495=)
n.6834C=
c.7492C= (p.Pro2498=)
c.7369C= (p.Pro2457=)
n.1619C=
c.4975C= (p.Pro1659=)
c.7588C= (p.Pro2530=)
c.5398C= (p.Pro1800=)
c.5074C= (p.Pro1692=)
11g.118503384C>GCA382805785KMT2Ac.7591C>G (p.Pro2531Ala)
c.7582C>G (p.Pro2528Ala)
c.1531C>G (p.Pro511Ala)
c.1789C>G (p.Pro597Ala)
c.7564C>G (p.Pro2522Ala)
c.7483C>G (p.Pro2495Ala)
n.6834C>G
c.7492C>G (p.Pro2498Ala)
c.7369C>G (p.Pro2457Ala)
n.1619C>G
c.4975C>G (p.Pro1659Ala)
c.7588C>G (p.Pro2530Ala)
c.5398C>G (p.Pro1800Ala)
c.5074C>G (p.Pro1692Ala)
 dbSNP
11g.118503384C>TCA382805787KMT2Ac.7591C>T (p.Pro2531Ser)
c.7582C>T (p.Pro2528Ser)
c.1531C>T (p.Pro511Ser)
c.1789C>T (p.Pro597Ser)
c.7564C>T (p.Pro2522Ser)
c.7483C>T (p.Pro2495Ser)
n.6834C>T
c.7492C>T (p.Pro2498Ser)
c.7369C>T (p.Pro2457Ser)
n.1619C>T
c.4975C>T (p.Pro1659Ser)
c.7588C>T (p.Pro2530Ser)
c.5398C>T (p.Pro1800Ser)
c.5074C>T (p.Pro1692Ser)
11g.118503385C>ACA382805792KMT2Ac.7592C>A (p.Pro2531Gln)
c.7583C>A (p.Pro2528Gln)
c.1532C>A (p.Pro511Gln)
c.1790C>A (p.Pro597Gln)
c.7565C>A (p.Pro2522Gln)
c.7484C>A (p.Pro2495Gln)
n.6835C>A
c.7493C>A (p.Pro2498Gln)
c.7370C>A (p.Pro2457Gln)
n.1620C>A
c.4976C>A (p.Pro1659Gln)
c.7589C>A (p.Pro2530Gln)
c.5399C>A (p.Pro1800Gln)
c.5075C>A (p.Pro1692Gln)
11g.118503385C>GCA382805790KMT2Ac.7592C>G (p.Pro2531Arg)
c.7583C>G (p.Pro2528Arg)
c.1532C>G (p.Pro511Arg)
c.1790C>G (p.Pro597Arg)
c.7565C>G (p.Pro2522Arg)
c.7484C>G (p.Pro2495Arg)
n.6835C>G
c.7493C>G (p.Pro2498Arg)
c.7370C>G (p.Pro2457Arg)
n.1620C>G
c.4976C>G (p.Pro1659Arg)
c.7589C>G (p.Pro2530Arg)
c.5399C>G (p.Pro1800Arg)
c.5075C>G (p.Pro1692Arg)
11g.118503385C>TCA382805789KMT2Ac.7592C>T (p.Pro2531Leu)
c.7583C>T (p.Pro2528Leu)
c.1532C>T (p.Pro511Leu)
c.1790C>T (p.Pro597Leu)
c.7565C>T (p.Pro2522Leu)
c.7484C>T (p.Pro2495Leu)
n.6835C>T
c.7493C>T (p.Pro2498Leu)
c.7370C>T (p.Pro2457Leu)
n.1620C>T
c.4976C>T (p.Pro1659Leu)
c.7589C>T (p.Pro2530Leu)
c.5399C>T (p.Pro1800Leu)
c.5075C>T (p.Pro1692Leu)
11g.118503385_118503388delinsCAGGCA2003527811KMT2Ac.7592_7595delinsCAGG (p.Pro2531=)
c.7583_7586delinsCAGG (p.Pro2528=)
c.1532_1535delinsCAGG (p.Pro511=)
c.1790_1793delinsCAGG (p.Pro597=)
c.7565_7568delinsCAGG (p.Pro2522=)
c.7484_7487delinsCAGG (p.Pro2495=)
n.6835_6838delinsCAGG
c.7493_7496delinsCAGG (p.Pro2498=)
c.7370_7373delinsCAGG (p.Pro2457=)
n.1620_1623delinsCAGG
c.4976_4979delinsCAGG (p.Pro1659=)
c.7589_7592delinsCAGG (p.Pro2530=)
c.5399_5402delinsCAGG (p.Pro1800=)
c.5075_5078delinsCAGG (p.Pro1692=)
11g.118503386A>CCA477359465KMT2Ac.7593A>C (p.Pro2531=)
c.7584A>C (p.Pro2528=)
c.1533A>C (p.Pro511=)
c.1791A>C (p.Pro597=)
c.7566A>C (p.Pro2522=)
c.7485A>C (p.Pro2495=)
n.6836A>C
c.7494A>C (p.Pro2498=)
c.7371A>C (p.Pro2457=)
n.1621A>C
c.4977A>C (p.Pro1659=)
c.7590A>C (p.Pro2530=)
c.5400A>C (p.Pro1800=)
c.5076A>C (p.Pro1692=)
11g.118503386A>GCA477359466KMT2Ac.7593A>G (p.Pro2531=)
c.7584A>G (p.Pro2528=)
c.1533A>G (p.Pro511=)
c.1791A>G (p.Pro597=)
c.7566A>G (p.Pro2522=)
c.7485A>G (p.Pro2495=)
n.6836A>G
c.7494A>G (p.Pro2498=)
c.7371A>G (p.Pro2457=)
n.1621A>G
c.4977A>G (p.Pro1659=)
c.7590A>G (p.Pro2530=)
c.5400A>G (p.Pro1800=)
c.5076A>G (p.Pro1692=)
11g.118503386A>TCA477359467KMT2Ac.7593A>T (p.Pro2531=)
c.7584A>T (p.Pro2528=)
c.1533A>T (p.Pro511=)
c.1791A>T (p.Pro597=)
c.7566A>T (p.Pro2522=)
c.7485A>T (p.Pro2495=)
n.6836A>T
c.7494A>T (p.Pro2498=)
c.7371A>T (p.Pro2457=)
n.1621A>T
c.4977A>T (p.Pro1659=)
c.7590A>T (p.Pro2530=)
c.5400A>T (p.Pro1800=)
c.5076A>T (p.Pro1692=)
11g.118503388_118503390delCA602140931KMT2Ac.7595_7597del (p.Gly2532del)
c.7586_7588del (p.Gly2529del)
c.1535_1537del (p.Gly512del)
c.1793_1795del (p.Gly598del)
c.7568_7570del (p.Gly2523del)
c.7487_7489del (p.Gly2496del)
n.6838_6840del
c.7496_7498del (p.Gly2499del)
c.7373_7375del (p.Gly2458del)
n.1623_1625del
c.4979_4981del (p.Gly1660del)
c.7592_7594del (p.Gly2531del)
c.5402_5404del (p.Gly1801del)
c.5078_5080del (p.Gly1693del)
 dbSNP gnomAD v2 gnomAD v4
11g.118503387G>ACA382805794KMT2Ac.7594G>A (p.Gly2532Arg)
c.7585G>A (p.Gly2529Arg)
c.1534G>A (p.Gly512Arg)
c.1792G>A (p.Gly598Arg)
c.7567G>A (p.Gly2523Arg)
c.7486G>A (p.Gly2496Arg)
n.6837G>A
c.7495G>A (p.Gly2499Arg)
c.7372G>A (p.Gly2458Arg)
n.1622G>A
c.4978G>A (p.Gly1660Arg)
c.7591G>A (p.Gly2531Arg)
c.5401G>A (p.Gly1801Arg)
c.5077G>A (p.Gly1693Arg)
11g.118503387G>CCA382805797KMT2Ac.7594G>C (p.Gly2532Arg)
c.7585G>C (p.Gly2529Arg)
c.1534G>C (p.Gly512Arg)
c.1792G>C (p.Gly598Arg)
c.7567G>C (p.Gly2523Arg)
c.7486G>C (p.Gly2496Arg)
n.6837G>C
c.7495G>C (p.Gly2499Arg)
c.7372G>C (p.Gly2458Arg)
n.1622G>C
c.4978G>C (p.Gly1660Arg)
c.7591G>C (p.Gly2531Arg)
c.5401G>C (p.Gly1801Arg)
c.5077G>C (p.Gly1693Arg)
11g.118503387G>TCA382805795KMT2Ac.7594G>T (p.Gly2532Ter)
c.7585G>T (p.Gly2529Ter)
c.1534G>T (p.Gly512Ter)
c.1792G>T (p.Gly598Ter)
c.7567G>T (p.Gly2523Ter)
c.7486G>T (p.Gly2496Ter)
n.6837G>T
c.7495G>T (p.Gly2499Ter)
c.7372G>T (p.Gly2458Ter)
n.1622G>T
c.4978G>T (p.Gly1660Ter)
c.7591G>T (p.Gly2531Ter)
c.5401G>T (p.Gly1801Ter)
c.5077G>T (p.Gly1693Ter)
11g.118503388G>ACA382805798KMT2Ac.7595G>A (p.Gly2532Glu)
c.7586G>A (p.Gly2529Glu)
c.1535G>A (p.Gly512Glu)
c.1793G>A (p.Gly598Glu)
c.7568G>A (p.Gly2523Glu)
c.7487G>A (p.Gly2496Glu)
n.6838G>A
c.7496G>A (p.Gly2499Glu)
c.7373G>A (p.Gly2458Glu)
n.1623G>A
c.4979G>A (p.Gly1660Glu)
c.7592G>A (p.Gly2531Glu)
c.5402G>A (p.Gly1801Glu)
c.5078G>A (p.Gly1693Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503388G>CCA382805800KMT2Ac.7595G>C (p.Gly2532Ala)
c.7586G>C (p.Gly2529Ala)
c.1535G>C (p.Gly512Ala)
c.1793G>C (p.Gly598Ala)
c.7568G>C (p.Gly2523Ala)
c.7487G>C (p.Gly2496Ala)
n.6838G>C
c.7496G>C (p.Gly2499Ala)
c.7373G>C (p.Gly2458Ala)
n.1623G>C
c.4979G>C (p.Gly1660Ala)
c.7592G>C (p.Gly2531Ala)
c.5402G>C (p.Gly1801Ala)
c.5078G>C (p.Gly1693Ala)
11g.118503388G=CA2003527813KMT2Ac.7595G= (p.Gly2532=)
c.7586G= (p.Gly2529=)
c.1535G= (p.Gly512=)
c.1793G= (p.Gly598=)
c.7568G= (p.Gly2523=)
c.7487G= (p.Gly2496=)
n.6838G=
c.7496G= (p.Gly2499=)
c.7373G= (p.Gly2458=)
n.1623G=
c.4979G= (p.Gly1660=)
c.7592G= (p.Gly2531=)
c.5402G= (p.Gly1801=)
c.5078G= (p.Gly1693=)
11g.118503388G>TCA382805801KMT2Ac.7595G>T (p.Gly2532Val)
c.7586G>T (p.Gly2529Val)
c.1535G>T (p.Gly512Val)
c.1793G>T (p.Gly598Val)
c.7568G>T (p.Gly2523Val)
c.7487G>T (p.Gly2496Val)
n.6838G>T
c.7496G>T (p.Gly2499Val)
c.7373G>T (p.Gly2458Val)
n.1623G>T
c.4979G>T (p.Gly1660Val)
c.7592G>T (p.Gly2531Val)
c.5402G>T (p.Gly1801Val)
c.5078G>T (p.Gly1693Val)
11g.118503388_118503389delinsGACA2003527814KMT2Ac.7595_7596delinsGA (p.Gly2532=)
c.7586_7587delinsGA (p.Gly2529=)
c.1535_1536delinsGA (p.Gly512=)
c.1793_1794delinsGA (p.Gly598=)
c.7568_7569delinsGA (p.Gly2523=)
c.7487_7488delinsGA (p.Gly2496=)
n.6838_6839delinsGA
c.7496_7497delinsGA (p.Gly2499=)
c.7373_7374delinsGA (p.Gly2458=)
n.1623_1624delinsGA
c.4979_4980delinsGA (p.Gly1660=)
c.7592_7593delinsGA (p.Gly2531=)
c.5402_5403delinsGA (p.Gly1801=)
c.5078_5079delinsGA (p.Gly1693=)
11g.118503389delCA658797809KMT2Ac.7596del (p.Val2533SerfsTer9)
c.7587del (p.Val2530SerfsTer9)
c.1536del (p.Val513SerfsTer9)
c.1794del (p.Val599SerfsTer9)
c.7569del (p.Val2524SerfsTer9)
c.7488del (p.Val2497SerfsTer9)
n.6839del
c.7497del (p.Val2500SerfsTer9)
c.7374del (p.Val2459SerfsTer9)
n.1624del
c.4980del (p.Val1661SerfsTer9)
c.7593del (p.Val2532SerfsTer9)
c.5403del (p.Val1802SerfsTer9)
c.5079del (p.Val1694SerfsTer9)
 ClinVar dbSNP
11g.118503389A>CCA477359470KMT2Ac.7596A>C (p.Gly2532=)
c.7587A>C (p.Gly2529=)
c.1536A>C (p.Gly512=)
c.1794A>C (p.Gly598=)
c.7569A>C (p.Gly2523=)
c.7488A>C (p.Gly2496=)
n.6839A>C
c.7497A>C (p.Gly2499=)
c.7374A>C (p.Gly2458=)
n.1624A>C
c.4980A>C (p.Gly1660=)
c.7593A>C (p.Gly2531=)
c.5403A>C (p.Gly1801=)
c.5079A>C (p.Gly1693=)
11g.118503389A>GCA477359469KMT2Ac.7596A>G (p.Gly2532=)
c.7587A>G (p.Gly2529=)
c.1536A>G (p.Gly512=)
c.1794A>G (p.Gly598=)
c.7569A>G (p.Gly2523=)
c.7488A>G (p.Gly2496=)
n.6839A>G
c.7497A>G (p.Gly2499=)
c.7374A>G (p.Gly2458=)
n.1624A>G
c.4980A>G (p.Gly1660=)
c.7593A>G (p.Gly2531=)
c.5403A>G (p.Gly1801=)
c.5079A>G (p.Gly1693=)
11g.118503389A>TCA477359468KMT2Ac.7596A>T (p.Gly2532=)
c.7587A>T (p.Gly2529=)
c.1536A>T (p.Gly512=)
c.1794A>T (p.Gly598=)
c.7569A>T (p.Gly2523=)
c.7488A>T (p.Gly2496=)
n.6839A>T
c.7497A>T (p.Gly2499=)
c.7374A>T (p.Gly2458=)
n.1624A>T
c.4980A>T (p.Gly1660=)
c.7593A>T (p.Gly2531=)
c.5403A>T (p.Gly1801=)
c.5079A>T (p.Gly1693=)
11g.118503390G>ACA382805803KMT2Ac.7597G>A (p.Val2533Ile)
c.7588G>A (p.Val2530Ile)
c.1537G>A (p.Val513Ile)
c.1795G>A (p.Val599Ile)
c.7570G>A (p.Val2524Ile)
c.7489G>A (p.Val2497Ile)
n.6840G>A
c.7498G>A (p.Val2500Ile)
c.7375G>A (p.Val2459Ile)
n.1625G>A
c.4981G>A (p.Val1661Ile)
c.7594G>A (p.Val2532Ile)
c.5404G>A (p.Val1802Ile)
c.5080G>A (p.Val1694Ile)
 dbSNP
11g.118503390G>CCA382805805KMT2Ac.7597G>C (p.Val2533Leu)
c.7588G>C (p.Val2530Leu)
c.1537G>C (p.Val513Leu)
c.1795G>C (p.Val599Leu)
c.7570G>C (p.Val2524Leu)
c.7489G>C (p.Val2497Leu)
n.6840G>C
c.7498G>C (p.Val2500Leu)
c.7375G>C (p.Val2459Leu)
n.1625G>C
c.4981G>C (p.Val1661Leu)
c.7594G>C (p.Val2532Leu)
c.5404G>C (p.Val1802Leu)
c.5080G>C (p.Val1694Leu)
 dbSNP
11g.118503390G>TCA382805806KMT2Ac.7597G>T (p.Val2533Phe)
c.7588G>T (p.Val2530Phe)
c.1537G>T (p.Val513Phe)
c.1795G>T (p.Val599Phe)
c.7570G>T (p.Val2524Phe)
c.7489G>T (p.Val2497Phe)
n.6840G>T
c.7498G>T (p.Val2500Phe)
c.7375G>T (p.Val2459Phe)
n.1625G>T
c.4981G>T (p.Val1661Phe)
c.7594G>T (p.Val2532Phe)
c.5404G>T (p.Val1802Phe)
c.5080G>T (p.Val1694Phe)
11g.118503391T>ACA382805808KMT2Ac.7598T>A (p.Val2533Asp)
c.7589T>A (p.Val2530Asp)
c.1538T>A (p.Val513Asp)
c.1796T>A (p.Val599Asp)
c.7571T>A (p.Val2524Asp)
c.7490T>A (p.Val2497Asp)
n.6841T>A
c.7499T>A (p.Val2500Asp)
c.7376T>A (p.Val2459Asp)
n.1626T>A
c.4982T>A (p.Val1661Asp)
c.7595T>A (p.Val2532Asp)
c.5405T>A (p.Val1802Asp)
c.5081T>A (p.Val1694Asp)
 ClinVar dbSNP
11g.118503391T>CCA382805810KMT2Ac.7598T>C (p.Val2533Ala)
c.7589T>C (p.Val2530Ala)
c.1538T>C (p.Val513Ala)
c.1796T>C (p.Val599Ala)
c.7571T>C (p.Val2524Ala)
c.7490T>C (p.Val2497Ala)
n.6841T>C
c.7499T>C (p.Val2500Ala)
c.7376T>C (p.Val2459Ala)
n.1626T>C
c.4982T>C (p.Val1661Ala)
c.7595T>C (p.Val2532Ala)
c.5405T>C (p.Val1802Ala)
c.5081T>C (p.Val1694Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503391T>GCA382805812KMT2Ac.7598T>G (p.Val2533Gly)
c.7589T>G (p.Val2530Gly)
c.1538T>G (p.Val513Gly)
c.1796T>G (p.Val599Gly)
c.7571T>G (p.Val2524Gly)
c.7490T>G (p.Val2497Gly)
n.6841T>G
c.7499T>G (p.Val2500Gly)
c.7376T>G (p.Val2459Gly)
n.1626T>G
c.4982T>G (p.Val1661Gly)
c.7595T>G (p.Val2532Gly)
c.5405T>G (p.Val1802Gly)
c.5081T>G (p.Val1694Gly)
11g.118503391T=CA2003527818KMT2Ac.7598T= (p.Val2533=)
c.7589T= (p.Val2530=)
c.1538T= (p.Val513=)
c.1796T= (p.Val599=)
c.7571T= (p.Val2524=)
c.7490T= (p.Val2497=)
n.6841T=
c.7499T= (p.Val2500=)
c.7376T= (p.Val2459=)
n.1626T=
c.4982T= (p.Val1661=)
c.7595T= (p.Val2532=)
c.5405T= (p.Val1802=)
c.5081T= (p.Val1694=)
11g.118503392C>ACA477359473KMT2Ac.7599C>A (p.Val2533=)
c.7590C>A (p.Val2530=)
c.1539C>A (p.Val513=)
c.1797C>A (p.Val599=)
c.7572C>A (p.Val2524=)
c.7491C>A (p.Val2497=)
n.6842C>A
c.7500C>A (p.Val2500=)
c.7377C>A (p.Val2459=)
n.1627C>A
c.4983C>A (p.Val1661=)
c.7596C>A (p.Val2532=)
c.5406C>A (p.Val1802=)
c.5082C>A (p.Val1694=)
11g.118503392C>GCA477359472KMT2Ac.7599C>G (p.Val2533=)
c.7590C>G (p.Val2530=)
c.1539C>G (p.Val513=)
c.1797C>G (p.Val599=)
c.7572C>G (p.Val2524=)
c.7491C>G (p.Val2497=)
n.6842C>G
c.7500C>G (p.Val2500=)
c.7377C>G (p.Val2459=)
n.1627C>G
c.4983C>G (p.Val1661=)
c.7596C>G (p.Val2532=)
c.5406C>G (p.Val1802=)
c.5082C>G (p.Val1694=)
11g.118503392C>TCA477359471KMT2Ac.7599C>T (p.Val2533=)
c.7590C>T (p.Val2530=)
c.1539C>T (p.Val513=)
c.1797C>T (p.Val599=)
c.7572C>T (p.Val2524=)
c.7491C>T (p.Val2497=)
n.6842C>T
c.7500C>T (p.Val2500=)
c.7377C>T (p.Val2459=)
n.1627C>T
c.4983C>T (p.Val1661=)
c.7596C>T (p.Val2532=)
c.5406C>T (p.Val1802=)
c.5082C>T (p.Val1694=)
 COSMIC COSMIC
11g.118503393C>ACA382805813KMT2Ac.7600C>A (p.Pro2534Thr)
c.7591C>A (p.Pro2531Thr)
c.1540C>A (p.Pro514Thr)
c.1798C>A (p.Pro600Thr)
c.7573C>A (p.Pro2525Thr)
c.7492C>A (p.Pro2498Thr)
n.6843C>A
c.7501C>A (p.Pro2501Thr)
c.7378C>A (p.Pro2460Thr)
n.1628C>A
c.4984C>A (p.Pro1662Thr)
c.7597C>A (p.Pro2533Thr)
c.5407C>A (p.Pro1803Thr)
c.5083C>A (p.Pro1695Thr)
11g.118503393C=CA2003527820KMT2Ac.7600C= (p.Pro2534=)
c.7591C= (p.Pro2531=)
c.1540C= (p.Pro514=)
c.1798C= (p.Pro600=)
c.7573C= (p.Pro2525=)
c.7492C= (p.Pro2498=)
n.6843C=
c.7501C= (p.Pro2501=)
c.7378C= (p.Pro2460=)
n.1628C=
c.4984C= (p.Pro1662=)
c.7597C= (p.Pro2533=)
c.5407C= (p.Pro1803=)
c.5083C= (p.Pro1695=)
11g.118503393C>GCA382805815KMT2Ac.7600C>G (p.Pro2534Ala)
c.7591C>G (p.Pro2531Ala)
c.1540C>G (p.Pro514Ala)
c.1798C>G (p.Pro600Ala)
c.7573C>G (p.Pro2525Ala)
c.7492C>G (p.Pro2498Ala)
n.6843C>G
c.7501C>G (p.Pro2501Ala)
c.7378C>G (p.Pro2460Ala)
n.1628C>G
c.4984C>G (p.Pro1662Ala)
c.7597C>G (p.Pro2533Ala)
c.5407C>G (p.Pro1803Ala)
c.5083C>G (p.Pro1695Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.118503393C>TCA382805817KMT2Ac.7600C>T (p.Pro2534Ser)
c.7591C>T (p.Pro2531Ser)
c.1540C>T (p.Pro514Ser)
c.1798C>T (p.Pro600Ser)
c.7573C>T (p.Pro2525Ser)
c.7492C>T (p.Pro2498Ser)
n.6843C>T
c.7501C>T (p.Pro2501Ser)
c.7378C>T (p.Pro2460Ser)
n.1628C>T
c.4984C>T (p.Pro1662Ser)
c.7597C>T (p.Pro2533Ser)
c.5407C>T (p.Pro1803Ser)
c.5083C>T (p.Pro1695Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.118503394C>ACA382805822KMT2Ac.7601C>A (p.Pro2534His)
c.7592C>A (p.Pro2531His)
c.1541C>A (p.Pro514His)
c.1799C>A (p.Pro600His)
c.7574C>A (p.Pro2525His)
c.7493C>A (p.Pro2498His)
n.6844C>A
c.7502C>A (p.Pro2501His)
c.7379C>A (p.Pro2460His)
n.1629C>A
c.4985C>A (p.Pro1662His)
c.7598C>A (p.Pro2533His)
c.5408C>A (p.Pro1803His)
c.5084C>A (p.Pro1695His)
11g.118503394C=CA2003527823KMT2Ac.7601C= (p.Pro2534=)
c.7592C= (p.Pro2531=)
c.1541C= (p.Pro514=)
c.1799C= (p.Pro600=)
c.7574C= (p.Pro2525=)
c.7493C= (p.Pro2498=)
n.6844C=
c.7502C= (p.Pro2501=)
c.7379C= (p.Pro2460=)
n.1629C=
c.4985C= (p.Pro1662=)
c.7598C= (p.Pro2533=)
c.5408C= (p.Pro1803=)
c.5084C= (p.Pro1695=)
11g.118503394C>GCA382805819KMT2Ac.7601C>G (p.Pro2534Arg)
c.7592C>G (p.Pro2531Arg)
c.1541C>G (p.Pro514Arg)
c.1799C>G (p.Pro600Arg)
c.7574C>G (p.Pro2525Arg)
c.7493C>G (p.Pro2498Arg)
n.6844C>G
c.7502C>G (p.Pro2501Arg)
c.7379C>G (p.Pro2460Arg)
n.1629C>G
c.4985C>G (p.Pro1662Arg)
c.7598C>G (p.Pro2533Arg)
c.5408C>G (p.Pro1803Arg)
c.5084C>G (p.Pro1695Arg)
 gnomAD v4
11g.118503394C>TCA382805820KMT2Ac.7601C>T (p.Pro2534Leu)
c.7592C>T (p.Pro2531Leu)
c.1541C>T (p.Pro514Leu)
c.1799C>T (p.Pro600Leu)
c.7574C>T (p.Pro2525Leu)
c.7493C>T (p.Pro2498Leu)
n.6844C>T
c.7502C>T (p.Pro2501Leu)
c.7379C>T (p.Pro2460Leu)
n.1629C>T
c.4985C>T (p.Pro1662Leu)
c.7598C>T (p.Pro2533Leu)
c.5408C>T (p.Pro1803Leu)
c.5084C>T (p.Pro1695Leu)
 dbSNP gnomAD v2
11g.118503395C>ACA477359476KMT2Ac.7602C>A (p.Pro2534=)
c.7593C>A (p.Pro2531=)
c.1542C>A (p.Pro514=)
c.1800C>A (p.Pro600=)
c.7575C>A (p.Pro2525=)
c.7494C>A (p.Pro2498=)
n.6845C>A
c.7503C>A (p.Pro2501=)
c.7380C>A (p.Pro2460=)
n.1630C>A
c.4986C>A (p.Pro1662=)
c.7599C>A (p.Pro2533=)
c.5409C>A (p.Pro1803=)
c.5085C>A (p.Pro1695=)
11g.118503395C>GCA477359474KMT2Ac.7602C>G (p.Pro2534=)
c.7593C>G (p.Pro2531=)
c.1542C>G (p.Pro514=)
c.1800C>G (p.Pro600=)
c.7575C>G (p.Pro2525=)
c.7494C>G (p.Pro2498=)
n.6845C>G
c.7503C>G (p.Pro2501=)
c.7380C>G (p.Pro2460=)
n.1630C>G
c.4986C>G (p.Pro1662=)
c.7599C>G (p.Pro2533=)
c.5409C>G (p.Pro1803=)
c.5085C>G (p.Pro1695=)
 COSMIC COSMIC
11g.118503395C>TCA477359475KMT2Ac.7602C>T (p.Pro2534=)
c.7593C>T (p.Pro2531=)
c.1542C>T (p.Pro514=)
c.1800C>T (p.Pro600=)
c.7575C>T (p.Pro2525=)
c.7494C>T (p.Pro2498=)
n.6845C>T
c.7503C>T (p.Pro2501=)
c.7380C>T (p.Pro2460=)
n.1630C>T
c.4986C>T (p.Pro1662=)
c.7599C>T (p.Pro2533=)
c.5409C>T (p.Pro1803=)
c.5085C>T (p.Pro1695=)
11g.118503396A>CCA382805824KMT2Ac.7603A>C (p.Lys2535Gln)
c.7594A>C (p.Lys2532Gln)
c.1543A>C (p.Lys515Gln)
c.1801A>C (p.Lys601Gln)
c.7576A>C (p.Lys2526Gln)
c.7495A>C (p.Lys2499Gln)
n.6846A>C
c.7504A>C (p.Lys2502Gln)
c.7381A>C (p.Lys2461Gln)
n.1631A>C
c.4987A>C (p.Lys1663Gln)
c.7600A>C (p.Lys2534Gln)
c.5410A>C (p.Lys1804Gln)
c.5086A>C (p.Lys1696Gln)
11g.118503396A>GCA382805826KMT2Ac.7603A>G (p.Lys2535Glu)
c.7594A>G (p.Lys2532Glu)
c.1543A>G (p.Lys515Glu)
c.1801A>G (p.Lys601Glu)
c.7576A>G (p.Lys2526Glu)
c.7495A>G (p.Lys2499Glu)
n.6846A>G
c.7504A>G (p.Lys2502Glu)
c.7381A>G (p.Lys2461Glu)
n.1631A>G
c.4987A>G (p.Lys1663Glu)
c.7600A>G (p.Lys2534Glu)
c.5410A>G (p.Lys1804Glu)
c.5086A>G (p.Lys1696Glu)
11g.118503396A>TCA382805827KMT2Ac.7603A>T (p.Lys2535Ter)
c.7594A>T (p.Lys2532Ter)
c.1543A>T (p.Lys515Ter)
c.1801A>T (p.Lys601Ter)
c.7576A>T (p.Lys2526Ter)
c.7495A>T (p.Lys2499Ter)
n.6846A>T
c.7504A>T (p.Lys2502Ter)
c.7381A>T (p.Lys2461Ter)
n.1631A>T
c.4987A>T (p.Lys1663Ter)
c.7600A>T (p.Lys2534Ter)
c.5410A>T (p.Lys1804Ter)
c.5086A>T (p.Lys1696Ter)
11g.118503397A=CA2003527827KMT2Ac.7604A= (p.Lys2535=)
c.7595A= (p.Lys2532=)
c.1544A= (p.Lys515=)
c.1802A= (p.Lys601=)
c.7577A= (p.Lys2526=)
c.7496A= (p.Lys2499=)
n.6847A=
c.7505A= (p.Lys2502=)
c.7382A= (p.Lys2461=)
n.1632A=
c.4988A= (p.Lys1663=)
c.7601A= (p.Lys2534=)
c.5411A= (p.Lys1804=)
c.5087A= (p.Lys1696=)
11g.118503397A>CCA382805829KMT2Ac.7604A>C (p.Lys2535Thr)
c.7595A>C (p.Lys2532Thr)
c.1544A>C (p.Lys515Thr)
c.1802A>C (p.Lys601Thr)
c.7577A>C (p.Lys2526Thr)
c.7496A>C (p.Lys2499Thr)
n.6847A>C
c.7505A>C (p.Lys2502Thr)
c.7382A>C (p.Lys2461Thr)
n.1632A>C
c.4988A>C (p.Lys1663Thr)
c.7601A>C (p.Lys2534Thr)
c.5411A>C (p.Lys1804Thr)
c.5087A>C (p.Lys1696Thr)
11g.118503397A>GCA6304402KMT2Ac.7604A>G (p.Lys2535Arg)
c.7595A>G (p.Lys2532Arg)
c.1544A>G (p.Lys515Arg)
c.1802A>G (p.Lys601Arg)
c.7577A>G (p.Lys2526Arg)
c.7496A>G (p.Lys2499Arg)
n.6847A>G
c.7505A>G (p.Lys2502Arg)
c.7382A>G (p.Lys2461Arg)
n.1632A>G
c.4988A>G (p.Lys1663Arg)
c.7601A>G (p.Lys2534Arg)
c.5411A>G (p.Lys1804Arg)
c.5087A>G (p.Lys1696Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503397A>TCA382805831KMT2Ac.7604A>T (p.Lys2535Ile)
c.7595A>T (p.Lys2532Ile)
c.1544A>T (p.Lys515Ile)
c.1802A>T (p.Lys601Ile)
c.7577A>T (p.Lys2526Ile)
c.7496A>T (p.Lys2499Ile)
n.6847A>T
c.7505A>T (p.Lys2502Ile)
c.7382A>T (p.Lys2461Ile)
n.1632A>T
c.4988A>T (p.Lys1663Ile)
c.7601A>T (p.Lys2534Ile)
c.5411A>T (p.Lys1804Ile)
c.5087A>T (p.Lys1696Ile)
11g.118503398A>CCA382805833KMT2Ac.7605A>C (p.Lys2535Asn)
c.7596A>C (p.Lys2532Asn)
c.1545A>C (p.Lys515Asn)
c.1803A>C (p.Lys601Asn)
c.7578A>C (p.Lys2526Asn)
c.7497A>C (p.Lys2499Asn)
n.6848A>C
c.7506A>C (p.Lys2502Asn)
c.7383A>C (p.Lys2461Asn)
n.1633A>C
c.4989A>C (p.Lys1663Asn)
c.7602A>C (p.Lys2534Asn)
c.5412A>C (p.Lys1804Asn)
c.5088A>C (p.Lys1696Asn)
 gnomAD v4
11g.118503398A>GCA477359477KMT2Ac.7605A>G (p.Lys2535=)
c.7596A>G (p.Lys2532=)
c.1545A>G (p.Lys515=)
c.1803A>G (p.Lys601=)
c.7578A>G (p.Lys2526=)
c.7497A>G (p.Lys2499=)
n.6848A>G
c.7506A>G (p.Lys2502=)
c.7383A>G (p.Lys2461=)
n.1633A>G
c.4989A>G (p.Lys1663=)
c.7602A>G (p.Lys2534=)
c.5412A>G (p.Lys1804=)
c.5088A>G (p.Lys1696=)
11g.118503398A>TCA382805835KMT2Ac.7605A>T (p.Lys2535Asn)
c.7596A>T (p.Lys2532Asn)
c.1545A>T (p.Lys515Asn)
c.1803A>T (p.Lys601Asn)
c.7578A>T (p.Lys2526Asn)
c.7497A>T (p.Lys2499Asn)
n.6848A>T
c.7506A>T (p.Lys2502Asn)
c.7383A>T (p.Lys2461Asn)
n.1633A>T
c.4989A>T (p.Lys1663Asn)
c.7602A>T (p.Lys2534Asn)
c.5412A>T (p.Lys1804Asn)
c.5088A>T (p.Lys1696Asn)
11g.118503399G>ACA229526877KMT2Ac.7606G>A (p.Ala2536Thr)
c.7597G>A (p.Ala2533Thr)
c.1546G>A (p.Ala516Thr)
c.1804G>A (p.Ala602Thr)
c.7579G>A (p.Ala2527Thr)
c.7498G>A (p.Ala2500Thr)
n.6849G>A
c.7507G>A (p.Ala2503Thr)
c.7384G>A (p.Ala2462Thr)
n.1634G>A
c.4990G>A (p.Ala1664Thr)
c.7603G>A (p.Ala2535Thr)
c.5413G>A (p.Ala1805Thr)
c.5089G>A (p.Ala1697Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503399G>CCA382805837KMT2Ac.7606G>C (p.Ala2536Pro)
c.7597G>C (p.Ala2533Pro)
c.1546G>C (p.Ala516Pro)
c.1804G>C (p.Ala602Pro)
c.7579G>C (p.Ala2527Pro)
c.7498G>C (p.Ala2500Pro)
n.6849G>C
c.7507G>C (p.Ala2503Pro)
c.7384G>C (p.Ala2462Pro)
n.1634G>C
c.4990G>C (p.Ala1664Pro)
c.7603G>C (p.Ala2535Pro)
c.5413G>C (p.Ala1805Pro)
c.5089G>C (p.Ala1697Pro)
 dbSNP gnomAD v4
11g.118503399G=CA2003527831KMT2Ac.7606G= (p.Ala2536=)
c.7597G= (p.Ala2533=)
c.1546G= (p.Ala516=)
c.1804G= (p.Ala602=)
c.7579G= (p.Ala2527=)
c.7498G= (p.Ala2500=)
n.6849G=
c.7507G= (p.Ala2503=)
c.7384G= (p.Ala2462=)
n.1634G=
c.4990G= (p.Ala1664=)
c.7603G= (p.Ala2535=)
c.5413G= (p.Ala1805=)
c.5089G= (p.Ala1697=)
11g.118503399G>TCA382805839KMT2Ac.7606G>T (p.Ala2536Ser)
c.7597G>T (p.Ala2533Ser)
c.1546G>T (p.Ala516Ser)
c.1804G>T (p.Ala602Ser)
c.7579G>T (p.Ala2527Ser)
c.7498G>T (p.Ala2500Ser)
n.6849G>T
c.7507G>T (p.Ala2503Ser)
c.7384G>T (p.Ala2462Ser)
n.1634G>T
c.4990G>T (p.Ala1664Ser)
c.7603G>T (p.Ala2535Ser)
c.5413G>T (p.Ala1805Ser)
c.5089G>T (p.Ala1697Ser)
 gnomAD v4
11g.118503400C>ACA6304403KMT2Ac.7607C>A (p.Ala2536Asp)
c.7598C>A (p.Ala2533Asp)
c.1547C>A (p.Ala516Asp)
c.1805C>A (p.Ala602Asp)
c.7580C>A (p.Ala2527Asp)
c.7499C>A (p.Ala2500Asp)
n.6850C>A
c.7508C>A (p.Ala2503Asp)
c.7385C>A (p.Ala2462Asp)
n.1635C>A
c.4991C>A (p.Ala1664Asp)
c.7604C>A (p.Ala2535Asp)
c.5414C>A (p.Ala1805Asp)
c.5090C>A (p.Ala1697Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503400C=CA2003527840KMT2Ac.7607C= (p.Ala2536=)
c.7598C= (p.Ala2533=)
c.1547C= (p.Ala516=)
c.1805C= (p.Ala602=)
c.7580C= (p.Ala2527=)
c.7499C= (p.Ala2500=)
n.6850C=
c.7508C= (p.Ala2503=)
c.7385C= (p.Ala2462=)
n.1635C=
c.4991C= (p.Ala1664=)
c.7604C= (p.Ala2535=)
c.5414C= (p.Ala1805=)
c.5090C= (p.Ala1697=)
11g.118503400C>GCA6304404KMT2Ac.7607C>G (p.Ala2536Gly)
c.7598C>G (p.Ala2533Gly)
c.1547C>G (p.Ala516Gly)
c.1805C>G (p.Ala602Gly)
c.7580C>G (p.Ala2527Gly)
c.7499C>G (p.Ala2500Gly)
n.6850C>G
c.7508C>G (p.Ala2503Gly)
c.7385C>G (p.Ala2462Gly)
n.1635C>G
c.4991C>G (p.Ala1664Gly)
c.7604C>G (p.Ala2535Gly)
c.5414C>G (p.Ala1805Gly)
c.5090C>G (p.Ala1697Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503400C>TCA382805842KMT2Ac.7607C>T (p.Ala2536Val)
c.7598C>T (p.Ala2533Val)
c.1547C>T (p.Ala516Val)
c.1805C>T (p.Ala602Val)
c.7580C>T (p.Ala2527Val)
c.7499C>T (p.Ala2500Val)
n.6850C>T
c.7508C>T (p.Ala2503Val)
c.7385C>T (p.Ala2462Val)
n.1635C>T
c.4991C>T (p.Ala1664Val)
c.7604C>T (p.Ala2535Val)
c.5414C>T (p.Ala1805Val)
c.5090C>T (p.Ala1697Val)
 gnomAD v4
11g.118503401T>ACA477359478KMT2Ac.7608T>A (p.Ala2536=)
c.7599T>A (p.Ala2533=)
c.1548T>A (p.Ala516=)
c.1806T>A (p.Ala602=)
c.7581T>A (p.Ala2527=)
c.7500T>A (p.Ala2500=)
n.6851T>A
c.7509T>A (p.Ala2503=)
c.7386T>A (p.Ala2462=)
n.1636T>A
c.4992T>A (p.Ala1664=)
c.7605T>A (p.Ala2535=)
c.5415T>A (p.Ala1805=)
c.5091T>A (p.Ala1697=)
11g.118503401T>CCA477359479KMT2Ac.7608T>C (p.Ala2536=)
c.7599T>C (p.Ala2533=)
c.1548T>C (p.Ala516=)
c.1806T>C (p.Ala602=)
c.7581T>C (p.Ala2527=)
c.7500T>C (p.Ala2500=)
n.6851T>C
c.7509T>C (p.Ala2503=)
c.7386T>C (p.Ala2462=)
n.1636T>C
c.4992T>C (p.Ala1664=)
c.7605T>C (p.Ala2535=)
c.5415T>C (p.Ala1805=)
c.5091T>C (p.Ala1697=)
11g.118503401T>GCA477359480KMT2Ac.7608T>G (p.Ala2536=)
c.7599T>G (p.Ala2533=)
c.1548T>G (p.Ala516=)
c.1806T>G (p.Ala602=)
c.7581T>G (p.Ala2527=)
c.7500T>G (p.Ala2500=)
n.6851T>G
c.7509T>G (p.Ala2503=)
c.7386T>G (p.Ala2462=)
n.1636T>G
c.4992T>G (p.Ala1664=)
c.7605T>G (p.Ala2535=)
c.5415T>G (p.Ala1805=)
c.5091T>G (p.Ala1697=)
11g.118503402C>ACA382805845KMT2Ac.7609C>A (p.Pro2537Thr)
c.7600C>A (p.Pro2534Thr)
c.1549C>A (p.Pro517Thr)
c.1807C>A (p.Pro603Thr)
c.7582C>A (p.Pro2528Thr)
c.7501C>A (p.Pro2501Thr)
n.6852C>A
c.7510C>A (p.Pro2504Thr)
c.7387C>A (p.Pro2463Thr)
n.1637C>A
c.4993C>A (p.Pro1665Thr)
c.7606C>A (p.Pro2536Thr)
c.5416C>A (p.Pro1806Thr)
c.5092C>A (p.Pro1698Thr)
11g.118503402C>GCA382805846KMT2Ac.7609C>G (p.Pro2537Ala)
c.7600C>G (p.Pro2534Ala)
c.1549C>G (p.Pro517Ala)
c.1807C>G (p.Pro603Ala)
c.7582C>G (p.Pro2528Ala)
c.7501C>G (p.Pro2501Ala)
n.6852C>G
c.7510C>G (p.Pro2504Ala)
c.7387C>G (p.Pro2463Ala)
n.1637C>G
c.4993C>G (p.Pro1665Ala)
c.7606C>G (p.Pro2536Ala)
c.5416C>G (p.Pro1806Ala)
c.5092C>G (p.Pro1698Ala)
11g.118503402C>TCA382805848KMT2Ac.7609C>T (p.Pro2537Ser)
c.7600C>T (p.Pro2534Ser)
c.1549C>T (p.Pro517Ser)
c.1807C>T (p.Pro603Ser)
c.7582C>T (p.Pro2528Ser)
c.7501C>T (p.Pro2501Ser)
n.6852C>T
c.7510C>T (p.Pro2504Ser)
c.7387C>T (p.Pro2463Ser)
n.1637C>T
c.4993C>T (p.Pro1665Ser)
c.7606C>T (p.Pro2536Ser)
c.5416C>T (p.Pro1806Ser)
c.5092C>T (p.Pro1698Ser)
 gnomAD v4
11g.118503403C>ACA382805850KMT2Ac.7610C>A (p.Pro2537Gln)
c.7601C>A (p.Pro2534Gln)
c.1550C>A (p.Pro517Gln)
c.1808C>A (p.Pro603Gln)
c.7583C>A (p.Pro2528Gln)
c.7502C>A (p.Pro2501Gln)
n.6853C>A
c.7511C>A (p.Pro2504Gln)
c.7388C>A (p.Pro2463Gln)
n.1638C>A
c.4994C>A (p.Pro1665Gln)
c.7607C>A (p.Pro2536Gln)
c.5417C>A (p.Pro1806Gln)
c.5093C>A (p.Pro1698Gln)
11g.118503403C>GCA382805852KMT2Ac.7610C>G (p.Pro2537Arg)
c.7601C>G (p.Pro2534Arg)
c.1550C>G (p.Pro517Arg)
c.1808C>G (p.Pro603Arg)
c.7583C>G (p.Pro2528Arg)
c.7502C>G (p.Pro2501Arg)
n.6853C>G
c.7511C>G (p.Pro2504Arg)
c.7388C>G (p.Pro2463Arg)
n.1638C>G
c.4994C>G (p.Pro1665Arg)
c.7607C>G (p.Pro2536Arg)
c.5417C>G (p.Pro1806Arg)
c.5093C>G (p.Pro1698Arg)
11g.118503403C>TCA382805853KMT2Ac.7610C>T (p.Pro2537Leu)
c.7601C>T (p.Pro2534Leu)
c.1550C>T (p.Pro517Leu)
c.1808C>T (p.Pro603Leu)
c.7583C>T (p.Pro2528Leu)
c.7502C>T (p.Pro2501Leu)
n.6853C>T
c.7511C>T (p.Pro2504Leu)
c.7388C>T (p.Pro2463Leu)
n.1638C>T
c.4994C>T (p.Pro1665Leu)
c.7607C>T (p.Pro2536Leu)
c.5417C>T (p.Pro1806Leu)
c.5093C>T (p.Pro1698Leu)
 gnomAD v4
11g.118503404A=CA2003527844KMT2Ac.7611A= (p.Pro2537=)
c.7602A= (p.Pro2534=)
c.1551A= (p.Pro517=)
c.1809A= (p.Pro603=)
c.7584A= (p.Pro2528=)
c.7503A= (p.Pro2501=)
n.6854A=
c.7512A= (p.Pro2504=)
c.7389A= (p.Pro2463=)
n.1639A=
c.4995A= (p.Pro1665=)
c.7608A= (p.Pro2536=)
c.5418A= (p.Pro1806=)
c.5094A= (p.Pro1698=)
11g.118503404A>CCA477359600KMT2Ac.7611A>C (p.Pro2537=)
c.7602A>C (p.Pro2534=)
c.1551A>C (p.Pro517=)
c.1809A>C (p.Pro603=)
c.7584A>C (p.Pro2528=)
c.7503A>C (p.Pro2501=)
n.6854A>C
c.7512A>C (p.Pro2504=)
c.7389A>C (p.Pro2463=)
n.1639A>C
c.4995A>C (p.Pro1665=)
c.7608A>C (p.Pro2536=)
c.5418A>C (p.Pro1806=)
c.5094A>C (p.Pro1698=)
 dbSNP
11g.118503404A>GCA477359601KMT2Ac.7611A>G (p.Pro2537=)
c.7602A>G (p.Pro2534=)
c.1551A>G (p.Pro517=)
c.1809A>G (p.Pro603=)
c.7584A>G (p.Pro2528=)
c.7503A>G (p.Pro2501=)
n.6854A>G
c.7512A>G (p.Pro2504=)
c.7389A>G (p.Pro2463=)
n.1639A>G
c.4995A>G (p.Pro1665=)
c.7608A>G (p.Pro2536=)
c.5418A>G (p.Pro1806=)
c.5094A>G (p.Pro1698=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503404A>TCA477359602KMT2Ac.7611A>T (p.Pro2537=)
c.7602A>T (p.Pro2534=)
c.1551A>T (p.Pro517=)
c.1809A>T (p.Pro603=)
c.7584A>T (p.Pro2528=)
c.7503A>T (p.Pro2501=)
n.6854A>T
c.7512A>T (p.Pro2504=)
c.7389A>T (p.Pro2463=)
n.1639A>T
c.4995A>T (p.Pro1665=)
c.7608A>T (p.Pro2536=)
c.5418A>T (p.Pro1806=)
c.5094A>T (p.Pro1698=)
11g.118503405C>ACA382805855KMT2Ac.7612C>A (p.Pro2538Thr)
c.7603C>A (p.Pro2535Thr)
c.1552C>A (p.Pro518Thr)
c.1810C>A (p.Pro604Thr)
c.7585C>A (p.Pro2529Thr)
c.7504C>A (p.Pro2502Thr)
n.6855C>A
c.7513C>A (p.Pro2505Thr)
c.7390C>A (p.Pro2464Thr)
n.1640C>A
c.4996C>A (p.Pro1666Thr)
c.7609C>A (p.Pro2537Thr)
c.5419C>A (p.Pro1807Thr)
c.5095C>A (p.Pro1699Thr)
11g.118503405C>GCA382805857KMT2Ac.7612C>G (p.Pro2538Ala)
c.7603C>G (p.Pro2535Ala)
c.1552C>G (p.Pro518Ala)
c.1810C>G (p.Pro604Ala)
c.7585C>G (p.Pro2529Ala)
c.7504C>G (p.Pro2502Ala)
n.6855C>G
c.7513C>G (p.Pro2505Ala)
c.7390C>G (p.Pro2464Ala)
n.1640C>G
c.4996C>G (p.Pro1666Ala)
c.7609C>G (p.Pro2537Ala)
c.5419C>G (p.Pro1807Ala)
c.5095C>G (p.Pro1699Ala)
11g.118503405C>TCA382805858KMT2Ac.7612C>T (p.Pro2538Ser)
c.7603C>T (p.Pro2535Ser)
c.1552C>T (p.Pro518Ser)
c.1810C>T (p.Pro604Ser)
c.7585C>T (p.Pro2529Ser)
c.7504C>T (p.Pro2502Ser)
n.6855C>T
c.7513C>T (p.Pro2505Ser)
c.7390C>T (p.Pro2464Ser)
n.1640C>T
c.4996C>T (p.Pro1666Ser)
c.7609C>T (p.Pro2537Ser)
c.5419C>T (p.Pro1807Ser)
c.5095C>T (p.Pro1699Ser)
 dbSNP gnomAD v4
11g.118503406C>ACA229526884KMT2Ac.7613C>A (p.Pro2538His)
c.7604C>A (p.Pro2535His)
c.1553C>A (p.Pro518His)
c.1811C>A (p.Pro604His)
c.7586C>A (p.Pro2529His)
c.7505C>A (p.Pro2502His)
n.6856C>A
c.7514C>A (p.Pro2505His)
c.7391C>A (p.Pro2464His)
n.1641C>A
c.4997C>A (p.Pro1666His)
c.7610C>A (p.Pro2537His)
c.5420C>A (p.Pro1807His)
c.5096C>A (p.Pro1699His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503406C=CA2003527847KMT2Ac.7613C= (p.Pro2538=)
c.7604C= (p.Pro2535=)
c.1553C= (p.Pro518=)
c.1811C= (p.Pro604=)
c.7586C= (p.Pro2529=)
c.7505C= (p.Pro2502=)
n.6856C=
c.7514C= (p.Pro2505=)
c.7391C= (p.Pro2464=)
n.1641C=
c.4997C= (p.Pro1666=)
c.7610C= (p.Pro2537=)
c.5420C= (p.Pro1807=)
c.5096C= (p.Pro1699=)
11g.118503406C>GCA382805861KMT2Ac.7613C>G (p.Pro2538Arg)
c.7604C>G (p.Pro2535Arg)
c.1553C>G (p.Pro518Arg)
c.1811C>G (p.Pro604Arg)
c.7586C>G (p.Pro2529Arg)
c.7505C>G (p.Pro2502Arg)
n.6856C>G
c.7514C>G (p.Pro2505Arg)
c.7391C>G (p.Pro2464Arg)
n.1641C>G
c.4997C>G (p.Pro1666Arg)
c.7610C>G (p.Pro2537Arg)
c.5420C>G (p.Pro1807Arg)
c.5096C>G (p.Pro1699Arg)
11g.118503406C>TCA382805863KMT2Ac.7613C>T (p.Pro2538Leu)
c.7604C>T (p.Pro2535Leu)
c.1553C>T (p.Pro518Leu)
c.1811C>T (p.Pro604Leu)
c.7586C>T (p.Pro2529Leu)
c.7505C>T (p.Pro2502Leu)
n.6856C>T
c.7514C>T (p.Pro2505Leu)
c.7391C>T (p.Pro2464Leu)
n.1641C>T
c.4997C>T (p.Pro1666Leu)
c.7610C>T (p.Pro2537Leu)
c.5420C>T (p.Pro1807Leu)
c.5096C>T (p.Pro1699Leu)
 dbSNP
11g.118503407C>ACA477359608KMT2Ac.7614C>A (p.Pro2538=)
c.7605C>A (p.Pro2535=)
c.1554C>A (p.Pro518=)
c.1812C>A (p.Pro604=)
c.7587C>A (p.Pro2529=)
c.7506C>A (p.Pro2502=)
n.6857C>A
c.7515C>A (p.Pro2505=)
c.7392C>A (p.Pro2464=)
n.1642C>A
c.4998C>A (p.Pro1666=)
c.7611C>A (p.Pro2537=)
c.5421C>A (p.Pro1807=)
c.5097C>A (p.Pro1699=)
11g.118503407C>GCA477359610KMT2Ac.7614C>G (p.Pro2538=)
c.7605C>G (p.Pro2535=)
c.1554C>G (p.Pro518=)
c.1812C>G (p.Pro604=)
c.7587C>G (p.Pro2529=)
c.7506C>G (p.Pro2502=)
n.6857C>G
c.7515C>G (p.Pro2505=)
c.7392C>G (p.Pro2464=)
n.1642C>G
c.4998C>G (p.Pro1666=)
c.7611C>G (p.Pro2537=)
c.5421C>G (p.Pro1807=)
c.5097C>G (p.Pro1699=)
11g.118503407C>TCA477359613KMT2Ac.7614C>T (p.Pro2538=)
c.7605C>T (p.Pro2535=)
c.1554C>T (p.Pro518=)
c.1812C>T (p.Pro604=)
c.7587C>T (p.Pro2529=)
c.7506C>T (p.Pro2502=)
n.6857C>T
c.7515C>T (p.Pro2505=)
c.7392C>T (p.Pro2464=)
n.1642C>T
c.4998C>T (p.Pro1666=)
c.7611C>T (p.Pro2537=)
c.5421C>T (p.Pro1807=)
c.5097C>T (p.Pro1699=)
11g.118503408A=CA2003527852KMT2Ac.7615A= (p.Met2539=)
c.7606A= (p.Met2536=)
c.1555A= (p.Met519=)
c.1813A= (p.Met605=)
c.7588A= (p.Met2530=)
c.7507A= (p.Met2503=)
n.6858A=
c.7516A= (p.Met2506=)
c.7393A= (p.Met2465=)
n.1643A=
c.4999A= (p.Met1667=)
c.7612A= (p.Met2538=)
c.5422A= (p.Met1808=)
c.5098A= (p.Met1700=)
11g.118503408A>CCA382805865KMT2Ac.7615A>C (p.Met2539Leu)
c.7606A>C (p.Met2536Leu)
c.1555A>C (p.Met519Leu)
c.1813A>C (p.Met605Leu)
c.7588A>C (p.Met2530Leu)
c.7507A>C (p.Met2503Leu)
n.6858A>C
c.7516A>C (p.Met2506Leu)
c.7393A>C (p.Met2465Leu)
n.1643A>C
c.4999A>C (p.Met1667Leu)
c.7612A>C (p.Met2538Leu)
c.5422A>C (p.Met1808Leu)
c.5098A>C (p.Met1700Leu)
11g.118503408A>GCA6304406KMT2Ac.7615A>G (p.Met2539Val)
c.7606A>G (p.Met2536Val)
c.1555A>G (p.Met519Val)
c.1813A>G (p.Met605Val)
c.7588A>G (p.Met2530Val)
c.7507A>G (p.Met2503Val)
n.6858A>G
c.7516A>G (p.Met2506Val)
c.7393A>G (p.Met2465Val)
n.1643A>G
c.4999A>G (p.Met1667Val)
c.7612A>G (p.Met2538Val)
c.5422A>G (p.Met1808Val)
c.5098A>G (p.Met1700Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503408A>TCA6304405KMT2Ac.7615A>T (p.Met2539Leu)
c.7606A>T (p.Met2536Leu)
c.1555A>T (p.Met519Leu)
c.1813A>T (p.Met605Leu)
c.7588A>T (p.Met2530Leu)
c.7507A>T (p.Met2503Leu)
n.6858A>T
c.7516A>T (p.Met2506Leu)
c.7393A>T (p.Met2465Leu)
n.1643A>T
c.4999A>T (p.Met1667Leu)
c.7612A>T (p.Met2538Leu)
c.5422A>T (p.Met1808Leu)
c.5098A>T (p.Met1700Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503409T>ACA382805868KMT2Ac.7616T>A (p.Met2539Lys)
c.7607T>A (p.Met2536Lys)
c.1556T>A (p.Met519Lys)
c.1814T>A (p.Met605Lys)
c.7589T>A (p.Met2530Lys)
c.7508T>A (p.Met2503Lys)
n.6859T>A
c.7517T>A (p.Met2506Lys)
c.7394T>A (p.Met2465Lys)
n.1644T>A
c.5000T>A (p.Met1667Lys)
c.7613T>A (p.Met2538Lys)
c.5423T>A (p.Met1808Lys)
c.5099T>A (p.Met1700Lys)
11g.118503409T>CCA382805869KMT2Ac.7616T>C (p.Met2539Thr)
c.7607T>C (p.Met2536Thr)
c.1556T>C (p.Met519Thr)
c.1814T>C (p.Met605Thr)
c.7589T>C (p.Met2530Thr)
c.7508T>C (p.Met2503Thr)
n.6859T>C
c.7517T>C (p.Met2506Thr)
c.7394T>C (p.Met2465Thr)
n.1644T>C
c.5000T>C (p.Met1667Thr)
c.7613T>C (p.Met2538Thr)
c.5423T>C (p.Met1808Thr)
c.5099T>C (p.Met1700Thr)
 ClinVar
11g.118503409T>GCA382805871KMT2Ac.7616T>G (p.Met2539Arg)
c.7607T>G (p.Met2536Arg)
c.1556T>G (p.Met519Arg)
c.1814T>G (p.Met605Arg)
c.7589T>G (p.Met2530Arg)
c.7508T>G (p.Met2503Arg)
n.6859T>G
c.7517T>G (p.Met2506Arg)
c.7394T>G (p.Met2465Arg)
n.1644T>G
c.5000T>G (p.Met1667Arg)
c.7613T>G (p.Met2538Arg)
c.5423T>G (p.Met1808Arg)
c.5099T>G (p.Met1700Arg)
11g.118503410G>ACA382805873KMT2Ac.7617G>A (p.Met2539Ile)
c.7608G>A (p.Met2536Ile)
c.1557G>A (p.Met519Ile)
c.1815G>A (p.Met605Ile)
c.7590G>A (p.Met2530Ile)
c.7509G>A (p.Met2503Ile)
n.6860G>A
c.7518G>A (p.Met2506Ile)
c.7395G>A (p.Met2465Ile)
n.1645G>A
c.5001G>A (p.Met1667Ile)
c.7614G>A (p.Met2538Ile)
c.5424G>A (p.Met1808Ile)
c.5100G>A (p.Met1700Ile)
11g.118503410G>CCA382805875KMT2Ac.7617G>C (p.Met2539Ile)
c.7608G>C (p.Met2536Ile)
c.1557G>C (p.Met519Ile)
c.1815G>C (p.Met605Ile)
c.7590G>C (p.Met2530Ile)
c.7509G>C (p.Met2503Ile)
n.6860G>C
c.7518G>C (p.Met2506Ile)
c.7395G>C (p.Met2465Ile)
n.1645G>C
c.5001G>C (p.Met1667Ile)
c.7614G>C (p.Met2538Ile)
c.5424G>C (p.Met1808Ile)
c.5100G>C (p.Met1700Ile)
 dbSNP
11g.118503410G=CA2003527856KMT2Ac.7617G= (p.Met2539=)
c.7608G= (p.Met2536=)
c.1557G= (p.Met519=)
c.1815G= (p.Met605=)
c.7590G= (p.Met2530=)
c.7509G= (p.Met2503=)
n.6860G=
c.7518G= (p.Met2506=)
c.7395G= (p.Met2465=)
n.1645G=
c.5001G= (p.Met1667=)
c.7614G= (p.Met2538=)
c.5424G= (p.Met1808=)
c.5100G= (p.Met1700=)
11g.118503410G>TCA6304407KMT2Ac.7617G>T (p.Met2539Ile)
c.7608G>T (p.Met2536Ile)
c.1557G>T (p.Met519Ile)
c.1815G>T (p.Met605Ile)
c.7590G>T (p.Met2530Ile)
c.7509G>T (p.Met2503Ile)
n.6860G>T
c.7518G>T (p.Met2506Ile)
c.7395G>T (p.Met2465Ile)
n.1645G>T
c.5001G>T (p.Met1667Ile)
c.7614G>T (p.Met2538Ile)
c.5424G>T (p.Met1808Ile)
c.5100G>T (p.Met1700Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503411C>ACA382805876KMT2Ac.7618C>A (p.Gln2540Lys)
c.7609C>A (p.Gln2537Lys)
c.1558C>A (p.Gln520Lys)
c.1816C>A (p.Gln606Lys)
c.7591C>A (p.Gln2531Lys)
c.7510C>A (p.Gln2504Lys)
n.6861C>A
c.7519C>A (p.Gln2507Lys)
c.7396C>A (p.Gln2466Lys)
n.1646C>A
c.5002C>A (p.Gln1668Lys)
c.7615C>A (p.Gln2539Lys)
c.5425C>A (p.Gln1809Lys)
c.5101C>A (p.Gln1701Lys)
11g.118503411C>GCA382805879KMT2Ac.7618C>G (p.Gln2540Glu)
c.7609C>G (p.Gln2537Glu)
c.1558C>G (p.Gln520Glu)
c.1816C>G (p.Gln606Glu)
c.7591C>G (p.Gln2531Glu)
c.7510C>G (p.Gln2504Glu)
n.6861C>G
c.7519C>G (p.Gln2507Glu)
c.7396C>G (p.Gln2466Glu)
n.1646C>G
c.5002C>G (p.Gln1668Glu)
c.7615C>G (p.Gln2539Glu)
c.5425C>G (p.Gln1809Glu)
c.5101C>G (p.Gln1701Glu)
11g.118503411C>TCA382805877KMT2Ac.7618C>T (p.Gln2540Ter)
c.7609C>T (p.Gln2537Ter)
c.1558C>T (p.Gln520Ter)
c.1816C>T (p.Gln606Ter)
c.7591C>T (p.Gln2531Ter)
c.7510C>T (p.Gln2504Ter)
n.6861C>T
c.7519C>T (p.Gln2507Ter)
c.7396C>T (p.Gln2466Ter)
n.1646C>T
c.5002C>T (p.Gln1668Ter)
c.7615C>T (p.Gln2539Ter)
c.5425C>T (p.Gln1809Ter)
c.5101C>T (p.Gln1701Ter)
 dbSNP
11g.118503412A>CCA382805880KMT2Ac.7619A>C (p.Gln2540Pro)
c.7610A>C (p.Gln2537Pro)
c.1559A>C (p.Gln520Pro)
c.1817A>C (p.Gln606Pro)
c.7592A>C (p.Gln2531Pro)
c.7511A>C (p.Gln2504Pro)
n.6862A>C
c.7520A>C (p.Gln2507Pro)
c.7397A>C (p.Gln2466Pro)
n.1647A>C
c.5003A>C (p.Gln1668Pro)
c.7616A>C (p.Gln2539Pro)
c.5426A>C (p.Gln1809Pro)
c.5102A>C (p.Gln1701Pro)
11g.118503412A>GCA382805882KMT2Ac.7619A>G (p.Gln2540Arg)
c.7610A>G (p.Gln2537Arg)
c.1559A>G (p.Gln520Arg)
c.1817A>G (p.Gln606Arg)
c.7592A>G (p.Gln2531Arg)
c.7511A>G (p.Gln2504Arg)
n.6862A>G
c.7520A>G (p.Gln2507Arg)
c.7397A>G (p.Gln2466Arg)
n.1647A>G
c.5003A>G (p.Gln1668Arg)
c.7616A>G (p.Gln2539Arg)
c.5426A>G (p.Gln1809Arg)
c.5102A>G (p.Gln1701Arg)
 gnomAD v4
11g.118503412A>TCA382805883KMT2Ac.7619A>T (p.Gln2540Leu)
c.7610A>T (p.Gln2537Leu)
c.1559A>T (p.Gln520Leu)
c.1817A>T (p.Gln606Leu)
c.7592A>T (p.Gln2531Leu)
c.7511A>T (p.Gln2504Leu)
n.6862A>T
c.7520A>T (p.Gln2507Leu)
c.7397A>T (p.Gln2466Leu)
n.1647A>T
c.5003A>T (p.Gln1668Leu)
c.7616A>T (p.Gln2539Leu)
c.5426A>T (p.Gln1809Leu)
c.5102A>T (p.Gln1701Leu)
 gnomAD v4
11g.118503413A>CCA382805885KMT2Ac.7620A>C (p.Gln2540His)
c.7611A>C (p.Gln2537His)
c.1560A>C (p.Gln520His)
c.1818A>C (p.Gln606His)
c.7593A>C (p.Gln2531His)
c.7512A>C (p.Gln2504His)
n.6863A>C
c.7521A>C (p.Gln2507His)
c.7398A>C (p.Gln2466His)
n.1648A>C
c.5004A>C (p.Gln1668His)
c.7617A>C (p.Gln2539His)
c.5427A>C (p.Gln1809His)
c.5103A>C (p.Gln1701His)
11g.118503413A>GCA477359622KMT2Ac.7620A>G (p.Gln2540=)
c.7611A>G (p.Gln2537=)
c.1560A>G (p.Gln520=)
c.1818A>G (p.Gln606=)
c.7593A>G (p.Gln2531=)
c.7512A>G (p.Gln2504=)
n.6863A>G
c.7521A>G (p.Gln2507=)
c.7398A>G (p.Gln2466=)
n.1648A>G
c.5004A>G (p.Gln1668=)
c.7617A>G (p.Gln2539=)
c.5427A>G (p.Gln1809=)
c.5103A>G (p.Gln1701=)
11g.118503413A>TCA382805886KMT2Ac.7620A>T (p.Gln2540His)
c.7611A>T (p.Gln2537His)
c.1560A>T (p.Gln520His)
c.1818A>T (p.Gln606His)
c.7593A>T (p.Gln2531His)
c.7512A>T (p.Gln2504His)
n.6863A>T
c.7521A>T (p.Gln2507His)
c.7398A>T (p.Gln2466His)
n.1648A>T
c.5004A>T (p.Gln1668His)
c.7617A>T (p.Gln2539His)
c.5427A>T (p.Gln1809His)
c.5103A>T (p.Gln1701His)
11g.118503414G>ACA382805892KMT2Ac.7621G>A (p.Val2541Ile)
c.7612G>A (p.Val2538Ile)
c.1561G>A (p.Val521Ile)
c.1819G>A (p.Val607Ile)
c.7594G>A (p.Val2532Ile)
c.7513G>A (p.Val2505Ile)
n.6864G>A
c.7522G>A (p.Val2508Ile)
c.7399G>A (p.Val2467Ile)
n.1649G>A
c.5005G>A (p.Val1669Ile)
c.7618G>A (p.Val2540Ile)
c.5428G>A (p.Val1810Ile)
c.5104G>A (p.Val1702Ile)
 dbSNP
11g.118503414G>CCA382805890KMT2Ac.7621G>C (p.Val2541Leu)
c.7612G>C (p.Val2538Leu)
c.1561G>C (p.Val521Leu)
c.1819G>C (p.Val607Leu)
c.7594G>C (p.Val2532Leu)
c.7513G>C (p.Val2505Leu)
n.6864G>C
c.7522G>C (p.Val2508Leu)
c.7399G>C (p.Val2467Leu)
n.1649G>C
c.5005G>C (p.Val1669Leu)
c.7618G>C (p.Val2540Leu)
c.5428G>C (p.Val1810Leu)
c.5104G>C (p.Val1702Leu)
11g.118503414G>TCA382805888KMT2Ac.7621G>T (p.Val2541Leu)
c.7612G>T (p.Val2538Leu)
c.1561G>T (p.Val521Leu)
c.1819G>T (p.Val607Leu)
c.7594G>T (p.Val2532Leu)
c.7513G>T (p.Val2505Leu)
n.6864G>T
c.7522G>T (p.Val2508Leu)
c.7399G>T (p.Val2467Leu)
n.1649G>T
c.5005G>T (p.Val1669Leu)
c.7618G>T (p.Val2540Leu)
c.5428G>T (p.Val1810Leu)
c.5104G>T (p.Val1702Leu)
11g.118503415T>ACA382805897KMT2Ac.7622T>A (p.Val2541Glu)
c.7613T>A (p.Val2538Glu)
c.1562T>A (p.Val521Glu)
c.1820T>A (p.Val607Glu)
c.7595T>A (p.Val2532Glu)
c.7514T>A (p.Val2505Glu)
n.6865T>A
c.7523T>A (p.Val2508Glu)
c.7400T>A (p.Val2467Glu)
n.1650T>A
c.5006T>A (p.Val1669Glu)
c.7619T>A (p.Val2540Glu)
c.5429T>A (p.Val1810Glu)
c.5105T>A (p.Val1702Glu)
11g.118503415T>CCA382805893KMT2Ac.7622T>C (p.Val2541Ala)
c.7613T>C (p.Val2538Ala)
c.1562T>C (p.Val521Ala)
c.1820T>C (p.Val607Ala)
c.7595T>C (p.Val2532Ala)
c.7514T>C (p.Val2505Ala)
n.6865T>C
c.7523T>C (p.Val2508Ala)
c.7400T>C (p.Val2467Ala)
n.1650T>C
c.5006T>C (p.Val1669Ala)
c.7619T>C (p.Val2540Ala)
c.5429T>C (p.Val1810Ala)
c.5105T>C (p.Val1702Ala)
 gnomAD v4
11g.118503415T>GCA382805895KMT2Ac.7622T>G (p.Val2541Gly)
c.7613T>G (p.Val2538Gly)
c.1562T>G (p.Val521Gly)
c.1820T>G (p.Val607Gly)
c.7595T>G (p.Val2532Gly)
c.7514T>G (p.Val2505Gly)
n.6865T>G
c.7523T>G (p.Val2508Gly)
c.7400T>G (p.Val2467Gly)
n.1650T>G
c.5006T>G (p.Val1669Gly)
c.7619T>G (p.Val2540Gly)
c.5429T>G (p.Val1810Gly)
c.5105T>G (p.Val1702Gly)

Number of alleles fetched