Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503271A>CCA382805321KMT2Ac.7478A>C (p.Glu2493Ala)
c.7469A>C (p.Glu2490Ala)
c.1418A>C (p.Glu473Ala)
c.1676A>C (p.Glu559Ala)
c.7451A>C (p.Glu2484Ala)
c.7370A>C (p.Glu2457Ala)
n.6721A>C
c.7379A>C (p.Glu2460Ala)
c.7256A>C (p.Glu2419Ala)
n.1506A>C
c.4862A>C (p.Glu1621Ala)
c.7475A>C (p.Glu2492Ala)
c.5285A>C (p.Glu1762Ala)
c.4961A>C (p.Glu1654Ala)
 gnomAD v4
11g.118503271A>GCA382805323KMT2Ac.7478A>G (p.Glu2493Gly)
c.7469A>G (p.Glu2490Gly)
c.1418A>G (p.Glu473Gly)
c.1676A>G (p.Glu559Gly)
c.7451A>G (p.Glu2484Gly)
c.7370A>G (p.Glu2457Gly)
n.6721A>G
c.7379A>G (p.Glu2460Gly)
c.7256A>G (p.Glu2419Gly)
n.1506A>G
c.4862A>G (p.Glu1621Gly)
c.7475A>G (p.Glu2492Gly)
c.5285A>G (p.Glu1762Gly)
c.4961A>G (p.Glu1654Gly)
11g.118503271A>TCA382805325KMT2Ac.7478A>T (p.Glu2493Val)
c.7469A>T (p.Glu2490Val)
c.1418A>T (p.Glu473Val)
c.1676A>T (p.Glu559Val)
c.7451A>T (p.Glu2484Val)
c.7370A>T (p.Glu2457Val)
n.6721A>T
c.7379A>T (p.Glu2460Val)
c.7256A>T (p.Glu2419Val)
n.1506A>T
c.4862A>T (p.Glu1621Val)
c.7475A>T (p.Glu2492Val)
c.5285A>T (p.Glu1762Val)
c.4961A>T (p.Glu1654Val)
11g.118503272A>CCA382805326KMT2Ac.7479A>C (p.Glu2493Asp)
c.7470A>C (p.Glu2490Asp)
c.1419A>C (p.Glu473Asp)
c.1677A>C (p.Glu559Asp)
c.7452A>C (p.Glu2484Asp)
c.7371A>C (p.Glu2457Asp)
n.6722A>C
c.7380A>C (p.Glu2460Asp)
c.7257A>C (p.Glu2419Asp)
n.1507A>C
c.4863A>C (p.Glu1621Asp)
c.7476A>C (p.Glu2492Asp)
c.5286A>C (p.Glu1762Asp)
c.4962A>C (p.Glu1654Asp)
11g.118503272A>GCA477359373KMT2Ac.7479A>G (p.Glu2493=)
c.7470A>G (p.Glu2490=)
c.1419A>G (p.Glu473=)
c.1677A>G (p.Glu559=)
c.7452A>G (p.Glu2484=)
c.7371A>G (p.Glu2457=)
n.6722A>G
c.7380A>G (p.Glu2460=)
c.7257A>G (p.Glu2419=)
n.1507A>G
c.4863A>G (p.Glu1621=)
c.7476A>G (p.Glu2492=)
c.5286A>G (p.Glu1762=)
c.4962A>G (p.Glu1654=)
11g.118503272A>TCA382805328KMT2Ac.7479A>T (p.Glu2493Asp)
c.7470A>T (p.Glu2490Asp)
c.1419A>T (p.Glu473Asp)
c.1677A>T (p.Glu559Asp)
c.7452A>T (p.Glu2484Asp)
c.7371A>T (p.Glu2457Asp)
n.6722A>T
c.7380A>T (p.Glu2460Asp)
c.7257A>T (p.Glu2419Asp)
n.1507A>T
c.4863A>T (p.Glu1621Asp)
c.7476A>T (p.Glu2492Asp)
c.5286A>T (p.Glu1762Asp)
c.4962A>T (p.Glu1654Asp)
11g.118503273G>ACA382805330KMT2Ac.7480G>A (p.Gly2494Arg)
c.7471G>A (p.Gly2491Arg)
c.1420G>A (p.Gly474Arg)
c.1678G>A (p.Gly560Arg)
c.7453G>A (p.Gly2485Arg)
c.7372G>A (p.Gly2458Arg)
n.6723G>A
c.7381G>A (p.Gly2461Arg)
c.7258G>A (p.Gly2420Arg)
n.1508G>A
c.4864G>A (p.Gly1622Arg)
c.7477G>A (p.Gly2493Arg)
c.5287G>A (p.Gly1763Arg)
c.4963G>A (p.Gly1655Arg)
 ClinVar dbSNP
11g.118503273G>CCA382805331KMT2Ac.7480G>C (p.Gly2494Arg)
c.7471G>C (p.Gly2491Arg)
c.1420G>C (p.Gly474Arg)
c.1678G>C (p.Gly560Arg)
c.7453G>C (p.Gly2485Arg)
c.7372G>C (p.Gly2458Arg)
n.6723G>C
c.7381G>C (p.Gly2461Arg)
c.7258G>C (p.Gly2420Arg)
n.1508G>C
c.4864G>C (p.Gly1622Arg)
c.7477G>C (p.Gly2493Arg)
c.5287G>C (p.Gly1763Arg)
c.4963G>C (p.Gly1655Arg)
11g.118503273G=CA2003527670KMT2Ac.7480G= (p.Gly2494=)
c.7471G= (p.Gly2491=)
c.1420G= (p.Gly474=)
c.1678G= (p.Gly560=)
c.7453G= (p.Gly2485=)
c.7372G= (p.Gly2458=)
n.6723G=
c.7381G= (p.Gly2461=)
c.7258G= (p.Gly2420=)
n.1508G=
c.4864G= (p.Gly1622=)
c.7477G= (p.Gly2493=)
c.5287G= (p.Gly1763=)
c.4963G= (p.Gly1655=)
11g.118503273G>TCA382805333KMT2Ac.7480G>T (p.Gly2494Ter)
c.7471G>T (p.Gly2491Ter)
c.1420G>T (p.Gly474Ter)
c.1678G>T (p.Gly560Ter)
c.7453G>T (p.Gly2485Ter)
c.7372G>T (p.Gly2458Ter)
n.6723G>T
c.7381G>T (p.Gly2461Ter)
c.7258G>T (p.Gly2420Ter)
n.1508G>T
c.4864G>T (p.Gly1622Ter)
c.7477G>T (p.Gly2493Ter)
c.5287G>T (p.Gly1763Ter)
c.4963G>T (p.Gly1655Ter)
11g.118503274G>ACA382805335KMT2Ac.7481G>A (p.Gly2494Glu)
c.7472G>A (p.Gly2491Glu)
c.1421G>A (p.Gly474Glu)
c.1679G>A (p.Gly560Glu)
c.7454G>A (p.Gly2485Glu)
c.7373G>A (p.Gly2458Glu)
n.6724G>A
c.7382G>A (p.Gly2461Glu)
c.7259G>A (p.Gly2420Glu)
n.1509G>A
c.4865G>A (p.Gly1622Glu)
c.7478G>A (p.Gly2493Glu)
c.5288G>A (p.Gly1763Glu)
c.4964G>A (p.Gly1655Glu)
11g.118503274G>CCA382805338KMT2Ac.7481G>C (p.Gly2494Ala)
c.7472G>C (p.Gly2491Ala)
c.1421G>C (p.Gly474Ala)
c.1679G>C (p.Gly560Ala)
c.7454G>C (p.Gly2485Ala)
c.7373G>C (p.Gly2458Ala)
n.6724G>C
c.7382G>C (p.Gly2461Ala)
c.7259G>C (p.Gly2420Ala)
n.1509G>C
c.4865G>C (p.Gly1622Ala)
c.7478G>C (p.Gly2493Ala)
c.5288G>C (p.Gly1763Ala)
c.4964G>C (p.Gly1655Ala)
11g.118503274G>TCA382805336KMT2Ac.7481G>T (p.Gly2494Val)
c.7472G>T (p.Gly2491Val)
c.1421G>T (p.Gly474Val)
c.1679G>T (p.Gly560Val)
c.7454G>T (p.Gly2485Val)
c.7373G>T (p.Gly2458Val)
n.6724G>T
c.7382G>T (p.Gly2461Val)
c.7259G>T (p.Gly2420Val)
n.1509G>T
c.4865G>T (p.Gly1622Val)
c.7478G>T (p.Gly2493Val)
c.5288G>T (p.Gly1763Val)
c.4964G>T (p.Gly1655Val)
11g.118503274_118503275insGCCATTAGAAAAAAAAAAAAAACA2725086118KMT2Ac.7481_7482insGCCATTAGAAAAAAAAAAAAAA (p.Asn2495ProfsTer16)
c.7472_7473insGCCATTAGAAAAAAAAAAAAAA (p.Asn2492ProfsTer16)
c.1421_1422insGCCATTAGAAAAAAAAAAAAAA (p.Asn475ProfsTer16)
c.1679_1680insGCCATTAGAAAAAAAAAAAAAA (p.Asn561ProfsTer16)
c.7454_7455insGCCATTAGAAAAAAAAAAAAAA (p.Asn2486ProfsTer16)
c.7373_7374insGCCATTAGAAAAAAAAAAAAAA (p.Asn2459ProfsTer16)
n.6724_6725insGCCATTAGAAAAAAAAAAAAAA
c.7382_7383insGCCATTAGAAAAAAAAAAAAAA (p.Asn2462ProfsTer16)
c.7259_7260insGCCATTAGAAAAAAAAAAAAAA (p.Asn2421ProfsTer16)
n.1509_1510insGCCATTAGAAAAAAAAAAAAAA
c.4865_4866insGCCATTAGAAAAAAAAAAAAAA (p.Asn1623ProfsTer16)
c.7478_7479insGCCATTAGAAAAAAAAAAAAAA (p.Asn2494ProfsTer16)
c.5288_5289insGCCATTAGAAAAAAAAAAAAAA (p.Asn1764ProfsTer16)
c.4964_4965insGCCATTAGAAAAAAAAAAAAAA (p.Asn1656ProfsTer16)
 dbSNP
11g.118503275A=CA2003527671KMT2Ac.7482A= (p.Gly2494=)
c.7473A= (p.Gly2491=)
c.1422A= (p.Gly474=)
c.1680A= (p.Gly560=)
c.7455A= (p.Gly2485=)
c.7374A= (p.Gly2458=)
n.6725A=
c.7383A= (p.Gly2461=)
c.7260A= (p.Gly2420=)
n.1510A=
c.4866A= (p.Gly1622=)
c.7479A= (p.Gly2493=)
c.5289A= (p.Gly1763=)
c.4965A= (p.Gly1655=)
11g.118503275A>CCA477359376KMT2Ac.7482A>C (p.Gly2494=)
c.7473A>C (p.Gly2491=)
c.1422A>C (p.Gly474=)
c.1680A>C (p.Gly560=)
c.7455A>C (p.Gly2485=)
c.7374A>C (p.Gly2458=)
n.6725A>C
c.7383A>C (p.Gly2461=)
c.7260A>C (p.Gly2420=)
n.1510A>C
c.4866A>C (p.Gly1622=)
c.7479A>C (p.Gly2493=)
c.5289A>C (p.Gly1763=)
c.4965A>C (p.Gly1655=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503275A>GCA477359378KMT2Ac.7482A>G (p.Gly2494=)
c.7473A>G (p.Gly2491=)
c.1422A>G (p.Gly474=)
c.1680A>G (p.Gly560=)
c.7455A>G (p.Gly2485=)
c.7374A>G (p.Gly2458=)
n.6725A>G
c.7383A>G (p.Gly2461=)
c.7260A>G (p.Gly2420=)
n.1510A>G
c.4866A>G (p.Gly1622=)
c.7479A>G (p.Gly2493=)
c.5289A>G (p.Gly1763=)
c.4965A>G (p.Gly1655=)
11g.118503275A>TCA477359379KMT2Ac.7482A>T (p.Gly2494=)
c.7473A>T (p.Gly2491=)
c.1422A>T (p.Gly474=)
c.1680A>T (p.Gly560=)
c.7455A>T (p.Gly2485=)
c.7374A>T (p.Gly2458=)
n.6725A>T
c.7383A>T (p.Gly2461=)
c.7260A>T (p.Gly2420=)
n.1510A>T
c.4866A>T (p.Gly1622=)
c.7479A>T (p.Gly2493=)
c.5289A>T (p.Gly1763=)
c.4965A>T (p.Gly1655=)
11g.118503276A>CCA382805341KMT2Ac.7483A>C (p.Asn2495His)
c.7474A>C (p.Asn2492His)
c.1423A>C (p.Asn475His)
c.1681A>C (p.Asn561His)
c.7456A>C (p.Asn2486His)
c.7375A>C (p.Asn2459His)
n.6726A>C
c.7384A>C (p.Asn2462His)
c.7261A>C (p.Asn2421His)
n.1511A>C
c.4867A>C (p.Asn1623His)
c.7480A>C (p.Asn2494His)
c.5290A>C (p.Asn1764His)
c.4966A>C (p.Asn1656His)
11g.118503276A>GCA382805342KMT2Ac.7483A>G (p.Asn2495Asp)
c.7474A>G (p.Asn2492Asp)
c.1423A>G (p.Asn475Asp)
c.1681A>G (p.Asn561Asp)
c.7456A>G (p.Asn2486Asp)
c.7375A>G (p.Asn2459Asp)
n.6726A>G
c.7384A>G (p.Asn2462Asp)
c.7261A>G (p.Asn2421Asp)
n.1511A>G
c.4867A>G (p.Asn1623Asp)
c.7480A>G (p.Asn2494Asp)
c.5290A>G (p.Asn1764Asp)
c.4966A>G (p.Asn1656Asp)
11g.118503276A>TCA382805344KMT2Ac.7483A>T (p.Asn2495Tyr)
c.7474A>T (p.Asn2492Tyr)
c.1423A>T (p.Asn475Tyr)
c.1681A>T (p.Asn561Tyr)
c.7456A>T (p.Asn2486Tyr)
c.7375A>T (p.Asn2459Tyr)
n.6726A>T
c.7384A>T (p.Asn2462Tyr)
c.7261A>T (p.Asn2421Tyr)
n.1511A>T
c.4867A>T (p.Asn1623Tyr)
c.7480A>T (p.Asn2494Tyr)
c.5290A>T (p.Asn1764Tyr)
c.4966A>T (p.Asn1656Tyr)
11g.118503277A>CCA382805346KMT2Ac.7484A>C (p.Asn2495Thr)
c.7475A>C (p.Asn2492Thr)
c.1424A>C (p.Asn475Thr)
c.1682A>C (p.Asn561Thr)
c.7457A>C (p.Asn2486Thr)
c.7376A>C (p.Asn2459Thr)
n.6727A>C
c.7385A>C (p.Asn2462Thr)
c.7262A>C (p.Asn2421Thr)
n.1512A>C
c.4868A>C (p.Asn1623Thr)
c.7481A>C (p.Asn2494Thr)
c.5291A>C (p.Asn1764Thr)
c.4967A>C (p.Asn1656Thr)
11g.118503277A>GCA382805347KMT2Ac.7484A>G (p.Asn2495Ser)
c.7475A>G (p.Asn2492Ser)
c.1424A>G (p.Asn475Ser)
c.1682A>G (p.Asn561Ser)
c.7457A>G (p.Asn2486Ser)
c.7376A>G (p.Asn2459Ser)
n.6727A>G
c.7385A>G (p.Asn2462Ser)
c.7262A>G (p.Asn2421Ser)
n.1512A>G
c.4868A>G (p.Asn1623Ser)
c.7481A>G (p.Asn2494Ser)
c.5291A>G (p.Asn1764Ser)
c.4967A>G (p.Asn1656Ser)
11g.118503277A>TCA382805348KMT2Ac.7484A>T (p.Asn2495Ile)
c.7475A>T (p.Asn2492Ile)
c.1424A>T (p.Asn475Ile)
c.1682A>T (p.Asn561Ile)
c.7457A>T (p.Asn2486Ile)
c.7376A>T (p.Asn2459Ile)
n.6727A>T
c.7385A>T (p.Asn2462Ile)
c.7262A>T (p.Asn2421Ile)
n.1512A>T
c.4868A>T (p.Asn1623Ile)
c.7481A>T (p.Asn2494Ile)
c.5291A>T (p.Asn1764Ile)
c.4967A>T (p.Asn1656Ile)
11g.118503278C>ACA382805350KMT2Ac.7485C>A (p.Asn2495Lys)
c.7476C>A (p.Asn2492Lys)
c.1425C>A (p.Asn475Lys)
c.1683C>A (p.Asn561Lys)
c.7458C>A (p.Asn2486Lys)
c.7377C>A (p.Asn2459Lys)
n.6728C>A
c.7386C>A (p.Asn2462Lys)
c.7263C>A (p.Asn2421Lys)
n.1513C>A
c.4869C>A (p.Asn1623Lys)
c.7482C>A (p.Asn2494Lys)
c.5292C>A (p.Asn1764Lys)
c.4968C>A (p.Asn1656Lys)
11g.118503278C>GCA382805352KMT2Ac.7485C>G (p.Asn2495Lys)
c.7476C>G (p.Asn2492Lys)
c.1425C>G (p.Asn475Lys)
c.1683C>G (p.Asn561Lys)
c.7458C>G (p.Asn2486Lys)
c.7377C>G (p.Asn2459Lys)
n.6728C>G
c.7386C>G (p.Asn2462Lys)
c.7263C>G (p.Asn2421Lys)
n.1513C>G
c.4869C>G (p.Asn1623Lys)
c.7482C>G (p.Asn2494Lys)
c.5292C>G (p.Asn1764Lys)
c.4968C>G (p.Asn1656Lys)
11g.118503278C>TCA477359380KMT2Ac.7485C>T (p.Asn2495=)
c.7476C>T (p.Asn2492=)
c.1425C>T (p.Asn475=)
c.1683C>T (p.Asn561=)
c.7458C>T (p.Asn2486=)
c.7377C>T (p.Asn2459=)
n.6728C>T
c.7386C>T (p.Asn2462=)
c.7263C>T (p.Asn2421=)
n.1513C>T
c.4869C>T (p.Asn1623=)
c.7482C>T (p.Asn2494=)
c.5292C>T (p.Asn1764=)
c.4968C>T (p.Asn1656=)
 gnomAD v4
11g.118503279T>ACA382805353KMT2Ac.7486T>A (p.Leu2496Met)
c.7477T>A (p.Leu2493Met)
c.1426T>A (p.Leu476Met)
c.1684T>A (p.Leu562Met)
c.7459T>A (p.Leu2487Met)
c.7378T>A (p.Leu2460Met)
n.6729T>A
c.7387T>A (p.Leu2463Met)
c.7264T>A (p.Leu2422Met)
n.1514T>A
c.4870T>A (p.Leu1624Met)
c.7483T>A (p.Leu2495Met)
c.5293T>A (p.Leu1765Met)
c.4969T>A (p.Leu1657Met)
11g.118503279T>CCA477359381KMT2Ac.7486T>C (p.Leu2496=)
c.7477T>C (p.Leu2493=)
c.1426T>C (p.Leu476=)
c.1684T>C (p.Leu562=)
c.7459T>C (p.Leu2487=)
c.7378T>C (p.Leu2460=)
n.6729T>C
c.7387T>C (p.Leu2463=)
c.7264T>C (p.Leu2422=)
n.1514T>C
c.4870T>C (p.Leu1624=)
c.7483T>C (p.Leu2495=)
c.5293T>C (p.Leu1765=)
c.4969T>C (p.Leu1657=)
11g.118503279T>GCA382805354KMT2Ac.7486T>G (p.Leu2496Val)
c.7477T>G (p.Leu2493Val)
c.1426T>G (p.Leu476Val)
c.1684T>G (p.Leu562Val)
c.7459T>G (p.Leu2487Val)
c.7378T>G (p.Leu2460Val)
n.6729T>G
c.7387T>G (p.Leu2463Val)
c.7264T>G (p.Leu2422Val)
n.1514T>G
c.4870T>G (p.Leu1624Val)
c.7483T>G (p.Leu2495Val)
c.5293T>G (p.Leu1765Val)
c.4969T>G (p.Leu1657Val)
11g.118503280T>ACA382805360KMT2Ac.7487T>A (p.Leu2496Ter)
c.7478T>A (p.Leu2493Ter)
c.1427T>A (p.Leu476Ter)
c.1685T>A (p.Leu562Ter)
c.7460T>A (p.Leu2487Ter)
c.7379T>A (p.Leu2460Ter)
n.6730T>A
c.7388T>A (p.Leu2463Ter)
c.7265T>A (p.Leu2422Ter)
n.1515T>A
c.4871T>A (p.Leu1624Ter)
c.7484T>A (p.Leu2495Ter)
c.5294T>A (p.Leu1765Ter)
c.4970T>A (p.Leu1657Ter)
11g.118503280T>CCA382805359KMT2Ac.7487T>C (p.Leu2496Ser)
c.7478T>C (p.Leu2493Ser)
c.1427T>C (p.Leu476Ser)
c.1685T>C (p.Leu562Ser)
c.7460T>C (p.Leu2487Ser)
c.7379T>C (p.Leu2460Ser)
n.6730T>C
c.7388T>C (p.Leu2463Ser)
c.7265T>C (p.Leu2422Ser)
n.1515T>C
c.4871T>C (p.Leu1624Ser)
c.7484T>C (p.Leu2495Ser)
c.5294T>C (p.Leu1765Ser)
c.4970T>C (p.Leu1657Ser)
11g.118503280T>GCA382805357KMT2Ac.7487T>G (p.Leu2496Trp)
c.7478T>G (p.Leu2493Trp)
c.1427T>G (p.Leu476Trp)
c.1685T>G (p.Leu562Trp)
c.7460T>G (p.Leu2487Trp)
c.7379T>G (p.Leu2460Trp)
n.6730T>G
c.7388T>G (p.Leu2463Trp)
c.7265T>G (p.Leu2422Trp)
n.1515T>G
c.4871T>G (p.Leu1624Trp)
c.7484T>G (p.Leu2495Trp)
c.5294T>G (p.Leu1765Trp)
c.4970T>G (p.Leu1657Trp)
11g.118503281G>ACA477359385KMT2Ac.7488G>A (p.Leu2496=)
c.7479G>A (p.Leu2493=)
c.1428G>A (p.Leu476=)
c.1686G>A (p.Leu562=)
c.7461G>A (p.Leu2487=)
c.7380G>A (p.Leu2460=)
n.6731G>A
c.7389G>A (p.Leu2463=)
c.7266G>A (p.Leu2422=)
n.1516G>A
c.4872G>A (p.Leu1624=)
c.7485G>A (p.Leu2495=)
c.5295G>A (p.Leu1765=)
c.4971G>A (p.Leu1657=)
 dbSNP
11g.118503281G>CCA382805362KMT2Ac.7488G>C (p.Leu2496Phe)
c.7479G>C (p.Leu2493Phe)
c.1428G>C (p.Leu476Phe)
c.1686G>C (p.Leu562Phe)
c.7461G>C (p.Leu2487Phe)
c.7380G>C (p.Leu2460Phe)
n.6731G>C
c.7389G>C (p.Leu2463Phe)
c.7266G>C (p.Leu2422Phe)
n.1516G>C
c.4872G>C (p.Leu1624Phe)
c.7485G>C (p.Leu2495Phe)
c.5295G>C (p.Leu1765Phe)
c.4971G>C (p.Leu1657Phe)
11g.118503281G=CA2003527674KMT2Ac.7488G= (p.Leu2496=)
c.7479G= (p.Leu2493=)
c.1428G= (p.Leu476=)
c.1686G= (p.Leu562=)
c.7461G= (p.Leu2487=)
c.7380G= (p.Leu2460=)
n.6731G=
c.7389G= (p.Leu2463=)
c.7266G= (p.Leu2422=)
n.1516G=
c.4872G= (p.Leu1624=)
c.7485G= (p.Leu2495=)
c.5295G= (p.Leu1765=)
c.4971G= (p.Leu1657=)
11g.118503281G>TCA382805364KMT2Ac.7488G>T (p.Leu2496Phe)
c.7479G>T (p.Leu2493Phe)
c.1428G>T (p.Leu476Phe)
c.1686G>T (p.Leu562Phe)
c.7461G>T (p.Leu2487Phe)
c.7380G>T (p.Leu2460Phe)
n.6731G>T
c.7389G>T (p.Leu2463Phe)
c.7266G>T (p.Leu2422Phe)
n.1516G>T
c.4872G>T (p.Leu1624Phe)
c.7485G>T (p.Leu2495Phe)
c.5295G>T (p.Leu1765Phe)
c.4971G>T (p.Leu1657Phe)
11g.118503282_118503284dupCA2793815453KMT2Ac.7489_7491dup (p.Lys2497_Pro2498insLys)
c.7480_7482dup (p.Lys2494_Pro2495insLys)
c.1429_1431dup (p.Lys477_Pro478insLys)
c.1687_1689dup (p.Lys563_Pro564insLys)
c.7462_7464dup (p.Lys2488_Pro2489insLys)
c.7381_7383dup (p.Lys2461_Pro2462insLys)
n.6732_6734dup
c.7390_7392dup (p.Lys2464_Pro2465insLys)
c.7267_7269dup (p.Lys2423_Pro2424insLys)
n.1517_1519dup
c.4873_4875dup (p.Lys1625_Pro1626insLys)
c.7486_7488dup (p.Lys2496_Pro2497insLys)
c.5296_5298dup (p.Lys1766_Pro1767insLys)
c.4972_4974dup (p.Lys1658_Pro1659insLys)
11g.118503282A>CCA382805366KMT2Ac.7489A>C (p.Lys2497Gln)
c.7480A>C (p.Lys2494Gln)
c.1429A>C (p.Lys477Gln)
c.1687A>C (p.Lys563Gln)
c.7462A>C (p.Lys2488Gln)
c.7381A>C (p.Lys2461Gln)
n.6732A>C
c.7390A>C (p.Lys2464Gln)
c.7267A>C (p.Lys2423Gln)
n.1517A>C
c.4873A>C (p.Lys1625Gln)
c.7486A>C (p.Lys2496Gln)
c.5296A>C (p.Lys1766Gln)
c.4972A>C (p.Lys1658Gln)
11g.118503282A>GCA382805368KMT2Ac.7489A>G (p.Lys2497Glu)
c.7480A>G (p.Lys2494Glu)
c.1429A>G (p.Lys477Glu)
c.1687A>G (p.Lys563Glu)
c.7462A>G (p.Lys2488Glu)
c.7381A>G (p.Lys2461Glu)
n.6732A>G
c.7390A>G (p.Lys2464Glu)
c.7267A>G (p.Lys2423Glu)
n.1517A>G
c.4873A>G (p.Lys1625Glu)
c.7486A>G (p.Lys2496Glu)
c.5296A>G (p.Lys1766Glu)
c.4972A>G (p.Lys1658Glu)
11g.118503282A>TCA382805370KMT2Ac.7489A>T (p.Lys2497Ter)
c.7480A>T (p.Lys2494Ter)
c.1429A>T (p.Lys477Ter)
c.1687A>T (p.Lys563Ter)
c.7462A>T (p.Lys2488Ter)
c.7381A>T (p.Lys2461Ter)
n.6732A>T
c.7390A>T (p.Lys2464Ter)
c.7267A>T (p.Lys2423Ter)
n.1517A>T
c.4873A>T (p.Lys1625Ter)
c.7486A>T (p.Lys2496Ter)
c.5296A>T (p.Lys1766Ter)
c.4972A>T (p.Lys1658Ter)
11g.118503283A=CA2003527678KMT2Ac.7490A= (p.Lys2497=)
c.7481A= (p.Lys2494=)
c.1430A= (p.Lys477=)
c.1688A= (p.Lys563=)
c.7463A= (p.Lys2488=)
c.7382A= (p.Lys2461=)
n.6733A=
c.7391A= (p.Lys2464=)
c.7268A= (p.Lys2423=)
n.1518A=
c.4874A= (p.Lys1625=)
c.7487A= (p.Lys2496=)
c.5297A= (p.Lys1766=)
c.4973A= (p.Lys1658=)
11g.118503283A>CCA382805372KMT2Ac.7490A>C (p.Lys2497Thr)
c.7481A>C (p.Lys2494Thr)
c.1430A>C (p.Lys477Thr)
c.1688A>C (p.Lys563Thr)
c.7463A>C (p.Lys2488Thr)
c.7382A>C (p.Lys2461Thr)
n.6733A>C
c.7391A>C (p.Lys2464Thr)
c.7268A>C (p.Lys2423Thr)
n.1518A>C
c.4874A>C (p.Lys1625Thr)
c.7487A>C (p.Lys2496Thr)
c.5297A>C (p.Lys1766Thr)
c.4973A>C (p.Lys1658Thr)
11g.118503283A>GCA382805374KMT2Ac.7490A>G (p.Lys2497Arg)
c.7481A>G (p.Lys2494Arg)
c.1430A>G (p.Lys477Arg)
c.1688A>G (p.Lys563Arg)
c.7463A>G (p.Lys2488Arg)
c.7382A>G (p.Lys2461Arg)
n.6733A>G
c.7391A>G (p.Lys2464Arg)
c.7268A>G (p.Lys2423Arg)
n.1518A>G
c.4874A>G (p.Lys1625Arg)
c.7487A>G (p.Lys2496Arg)
c.5297A>G (p.Lys1766Arg)
c.4973A>G (p.Lys1658Arg)
11g.118503283A>TCA382805375KMT2Ac.7490A>T (p.Lys2497Met)
c.7481A>T (p.Lys2494Met)
c.1430A>T (p.Lys477Met)
c.1688A>T (p.Lys563Met)
c.7463A>T (p.Lys2488Met)
c.7382A>T (p.Lys2461Met)
n.6733A>T
c.7391A>T (p.Lys2464Met)
c.7268A>T (p.Lys2423Met)
n.1518A>T
c.4874A>T (p.Lys1625Met)
c.7487A>T (p.Lys2496Met)
c.5297A>T (p.Lys1766Met)
c.4973A>T (p.Lys1658Met)
 dbSNP gnomAD v3 gnomAD v4
11g.118503284G>ACA477359386KMT2Ac.7491G>A (p.Lys2497=)
c.7482G>A (p.Lys2494=)
c.1431G>A (p.Lys477=)
c.1689G>A (p.Lys563=)
c.7464G>A (p.Lys2488=)
c.7383G>A (p.Lys2461=)
n.6734G>A
c.7392G>A (p.Lys2464=)
c.7269G>A (p.Lys2423=)
n.1519G>A
c.4875G>A (p.Lys1625=)
c.7488G>A (p.Lys2496=)
c.5298G>A (p.Lys1766=)
c.4974G>A (p.Lys1658=)
11g.118503284G>CCA382805378KMT2Ac.7491G>C (p.Lys2497Asn)
c.7482G>C (p.Lys2494Asn)
c.1431G>C (p.Lys477Asn)
c.1689G>C (p.Lys563Asn)
c.7464G>C (p.Lys2488Asn)
c.7383G>C (p.Lys2461Asn)
n.6734G>C
c.7392G>C (p.Lys2464Asn)
c.7269G>C (p.Lys2423Asn)
n.1519G>C
c.4875G>C (p.Lys1625Asn)
c.7488G>C (p.Lys2496Asn)
c.5298G>C (p.Lys1766Asn)
c.4974G>C (p.Lys1658Asn)
11g.118503284G>TCA382805377KMT2Ac.7491G>T (p.Lys2497Asn)
c.7482G>T (p.Lys2494Asn)
c.1431G>T (p.Lys477Asn)
c.1689G>T (p.Lys563Asn)
c.7464G>T (p.Lys2488Asn)
c.7383G>T (p.Lys2461Asn)
n.6734G>T
c.7392G>T (p.Lys2464Asn)
c.7269G>T (p.Lys2423Asn)
n.1519G>T
c.4875G>T (p.Lys1625Asn)
c.7488G>T (p.Lys2496Asn)
c.5298G>T (p.Lys1766Asn)
c.4974G>T (p.Lys1658Asn)
 COSMIC COSMIC
11g.118503285C>ACA382805381KMT2Ac.7492C>A (p.Pro2498Thr)
c.7483C>A (p.Pro2495Thr)
c.1432C>A (p.Pro478Thr)
c.1690C>A (p.Pro564Thr)
c.7465C>A (p.Pro2489Thr)
c.7384C>A (p.Pro2462Thr)
n.6735C>A
c.7393C>A (p.Pro2465Thr)
c.7270C>A (p.Pro2424Thr)
n.1520C>A
c.4876C>A (p.Pro1626Thr)
c.7489C>A (p.Pro2497Thr)
c.5299C>A (p.Pro1767Thr)
c.4975C>A (p.Pro1659Thr)
 dbSNP COSMIC COSMIC
11g.118503285C>GCA382805382KMT2Ac.7492C>G (p.Pro2498Ala)
c.7483C>G (p.Pro2495Ala)
c.1432C>G (p.Pro478Ala)
c.1690C>G (p.Pro564Ala)
c.7465C>G (p.Pro2489Ala)
c.7384C>G (p.Pro2462Ala)
n.6735C>G
c.7393C>G (p.Pro2465Ala)
c.7270C>G (p.Pro2424Ala)
n.1520C>G
c.4876C>G (p.Pro1626Ala)
c.7489C>G (p.Pro2497Ala)
c.5299C>G (p.Pro1767Ala)
c.4975C>G (p.Pro1659Ala)
11g.118503285C>TCA382805384KMT2Ac.7492C>T (p.Pro2498Ser)
c.7483C>T (p.Pro2495Ser)
c.1432C>T (p.Pro478Ser)
c.1690C>T (p.Pro564Ser)
c.7465C>T (p.Pro2489Ser)
c.7384C>T (p.Pro2462Ser)
n.6735C>T
c.7393C>T (p.Pro2465Ser)
c.7270C>T (p.Pro2424Ser)
n.1520C>T
c.4876C>T (p.Pro1626Ser)
c.7489C>T (p.Pro2497Ser)
c.5299C>T (p.Pro1767Ser)
c.4975C>T (p.Pro1659Ser)
11g.118503286C>ACA382805385KMT2Ac.7493C>A (p.Pro2498Gln)
c.7484C>A (p.Pro2495Gln)
c.1433C>A (p.Pro478Gln)
c.1691C>A (p.Pro564Gln)
c.7466C>A (p.Pro2489Gln)
c.7385C>A (p.Pro2462Gln)
n.6736C>A
c.7394C>A (p.Pro2465Gln)
c.7271C>A (p.Pro2424Gln)
n.1521C>A
c.4877C>A (p.Pro1626Gln)
c.7490C>A (p.Pro2497Gln)
c.5300C>A (p.Pro1767Gln)
c.4976C>A (p.Pro1659Gln)
11g.118503286C>GCA382805387KMT2Ac.7493C>G (p.Pro2498Arg)
c.7484C>G (p.Pro2495Arg)
c.1433C>G (p.Pro478Arg)
c.1691C>G (p.Pro564Arg)
c.7466C>G (p.Pro2489Arg)
c.7385C>G (p.Pro2462Arg)
n.6736C>G
c.7394C>G (p.Pro2465Arg)
c.7271C>G (p.Pro2424Arg)
n.1521C>G
c.4877C>G (p.Pro1626Arg)
c.7490C>G (p.Pro2497Arg)
c.5300C>G (p.Pro1767Arg)
c.4976C>G (p.Pro1659Arg)
 dbSNP
11g.118503286C>TCA382805389KMT2Ac.7493C>T (p.Pro2498Leu)
c.7484C>T (p.Pro2495Leu)
c.1433C>T (p.Pro478Leu)
c.1691C>T (p.Pro564Leu)
c.7466C>T (p.Pro2489Leu)
c.7385C>T (p.Pro2462Leu)
n.6736C>T
c.7394C>T (p.Pro2465Leu)
c.7271C>T (p.Pro2424Leu)
n.1521C>T
c.4877C>T (p.Pro1626Leu)
c.7490C>T (p.Pro2497Leu)
c.5300C>T (p.Pro1767Leu)
c.4976C>T (p.Pro1659Leu)
11g.118503287A>CCA477359392KMT2Ac.7494A>C (p.Pro2498=)
c.7485A>C (p.Pro2495=)
c.1434A>C (p.Pro478=)
c.1692A>C (p.Pro564=)
c.7467A>C (p.Pro2489=)
c.7386A>C (p.Pro2462=)
n.6737A>C
c.7395A>C (p.Pro2465=)
c.7272A>C (p.Pro2424=)
n.1522A>C
c.4878A>C (p.Pro1626=)
c.7491A>C (p.Pro2497=)
c.5301A>C (p.Pro1767=)
c.4977A>C (p.Pro1659=)
11g.118503287A>GCA477359390KMT2Ac.7494A>G (p.Pro2498=)
c.7485A>G (p.Pro2495=)
c.1434A>G (p.Pro478=)
c.1692A>G (p.Pro564=)
c.7467A>G (p.Pro2489=)
c.7386A>G (p.Pro2462=)
n.6737A>G
c.7395A>G (p.Pro2465=)
c.7272A>G (p.Pro2424=)
n.1522A>G
c.4878A>G (p.Pro1626=)
c.7491A>G (p.Pro2497=)
c.5301A>G (p.Pro1767=)
c.4977A>G (p.Pro1659=)
11g.118503287A>TCA477359391KMT2Ac.7494A>T (p.Pro2498=)
c.7485A>T (p.Pro2495=)
c.1434A>T (p.Pro478=)
c.1692A>T (p.Pro564=)
c.7467A>T (p.Pro2489=)
c.7386A>T (p.Pro2462=)
n.6737A>T
c.7395A>T (p.Pro2465=)
c.7272A>T (p.Pro2424=)
n.1522A>T
c.4878A>T (p.Pro1626=)
c.7491A>T (p.Pro2497=)
c.5301A>T (p.Pro1767=)
c.4977A>T (p.Pro1659=)
11g.118503288G>ACA382805392KMT2Ac.7495G>A (p.Glu2499Lys)
c.7486G>A (p.Glu2496Lys)
c.1435G>A (p.Glu479Lys)
c.1693G>A (p.Glu565Lys)
c.7468G>A (p.Glu2490Lys)
c.7387G>A (p.Glu2463Lys)
n.6738G>A
c.7396G>A (p.Glu2466Lys)
c.7273G>A (p.Glu2425Lys)
n.1523G>A
c.4879G>A (p.Glu1627Lys)
c.7492G>A (p.Glu2498Lys)
c.5302G>A (p.Glu1768Lys)
c.4978G>A (p.Glu1660Lys)
 dbSNP
11g.118503288G>CCA382805395KMT2Ac.7495G>C (p.Glu2499Gln)
c.7486G>C (p.Glu2496Gln)
c.1435G>C (p.Glu479Gln)
c.1693G>C (p.Glu565Gln)
c.7468G>C (p.Glu2490Gln)
c.7387G>C (p.Glu2463Gln)
n.6738G>C
c.7396G>C (p.Glu2466Gln)
c.7273G>C (p.Glu2425Gln)
n.1523G>C
c.4879G>C (p.Glu1627Gln)
c.7492G>C (p.Glu2498Gln)
c.5302G>C (p.Glu1768Gln)
c.4978G>C (p.Glu1660Gln)
11g.118503288G>TCA382805393KMT2Ac.7495G>T (p.Glu2499Ter)
c.7486G>T (p.Glu2496Ter)
c.1435G>T (p.Glu479Ter)
c.1693G>T (p.Glu565Ter)
c.7468G>T (p.Glu2490Ter)
c.7387G>T (p.Glu2463Ter)
n.6738G>T
c.7396G>T (p.Glu2466Ter)
c.7273G>T (p.Glu2425Ter)
n.1523G>T
c.4879G>T (p.Glu1627Ter)
c.7492G>T (p.Glu2498Ter)
c.5302G>T (p.Glu1768Ter)
c.4978G>T (p.Glu1660Ter)
11g.118503289A>CCA382805396KMT2Ac.7496A>C (p.Glu2499Ala)
c.7487A>C (p.Glu2496Ala)
c.1436A>C (p.Glu479Ala)
c.1694A>C (p.Glu565Ala)
c.7469A>C (p.Glu2490Ala)
c.7388A>C (p.Glu2463Ala)
n.6739A>C
c.7397A>C (p.Glu2466Ala)
c.7274A>C (p.Glu2425Ala)
n.1524A>C
c.4880A>C (p.Glu1627Ala)
c.7493A>C (p.Glu2498Ala)
c.5303A>C (p.Glu1768Ala)
c.4979A>C (p.Glu1660Ala)
11g.118503289A>GCA382805398KMT2Ac.7496A>G (p.Glu2499Gly)
c.7487A>G (p.Glu2496Gly)
c.1436A>G (p.Glu479Gly)
c.1694A>G (p.Glu565Gly)
c.7469A>G (p.Glu2490Gly)
c.7388A>G (p.Glu2463Gly)
n.6739A>G
c.7397A>G (p.Glu2466Gly)
c.7274A>G (p.Glu2425Gly)
n.1524A>G
c.4880A>G (p.Glu1627Gly)
c.7493A>G (p.Glu2498Gly)
c.5303A>G (p.Glu1768Gly)
c.4979A>G (p.Glu1660Gly)
11g.118503289A>TCA382805400KMT2Ac.7496A>T (p.Glu2499Val)
c.7487A>T (p.Glu2496Val)
c.1436A>T (p.Glu479Val)
c.1694A>T (p.Glu565Val)
c.7469A>T (p.Glu2490Val)
c.7388A>T (p.Glu2463Val)
n.6739A>T
c.7397A>T (p.Glu2466Val)
c.7274A>T (p.Glu2425Val)
n.1524A>T
c.4880A>T (p.Glu1627Val)
c.7493A>T (p.Glu2498Val)
c.5303A>T (p.Glu1768Val)
c.4979A>T (p.Glu1660Val)
11g.118503290G>ACA477359393KMT2Ac.7497G>A (p.Glu2499=)
c.7488G>A (p.Glu2496=)
c.1437G>A (p.Glu479=)
c.1695G>A (p.Glu565=)
c.7470G>A (p.Glu2490=)
c.7389G>A (p.Glu2463=)
n.6740G>A
c.7398G>A (p.Glu2466=)
c.7275G>A (p.Glu2425=)
n.1525G>A
c.4881G>A (p.Glu1627=)
c.7494G>A (p.Glu2498=)
c.5304G>A (p.Glu1768=)
c.4980G>A (p.Glu1660=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503290G>CCA382805402KMT2Ac.7497G>C (p.Glu2499Asp)
c.7488G>C (p.Glu2496Asp)
c.1437G>C (p.Glu479Asp)
c.1695G>C (p.Glu565Asp)
c.7470G>C (p.Glu2490Asp)
c.7389G>C (p.Glu2463Asp)
n.6740G>C
c.7398G>C (p.Glu2466Asp)
c.7275G>C (p.Glu2425Asp)
n.1525G>C
c.4881G>C (p.Glu1627Asp)
c.7494G>C (p.Glu2498Asp)
c.5304G>C (p.Glu1768Asp)
c.4980G>C (p.Glu1660Asp)
 dbSNP
11g.118503290G=CA2003527682KMT2Ac.7497G= (p.Glu2499=)
c.7488G= (p.Glu2496=)
c.1437G= (p.Glu479=)
c.1695G= (p.Glu565=)
c.7470G= (p.Glu2490=)
c.7389G= (p.Glu2463=)
n.6740G=
c.7398G= (p.Glu2466=)
c.7275G= (p.Glu2425=)
n.1525G=
c.4881G= (p.Glu1627=)
c.7494G= (p.Glu2498=)
c.5304G= (p.Glu1768=)
c.4980G= (p.Glu1660=)
11g.118503290G>TCA382805403KMT2Ac.7497G>T (p.Glu2499Asp)
c.7488G>T (p.Glu2496Asp)
c.1437G>T (p.Glu479Asp)
c.1695G>T (p.Glu565Asp)
c.7470G>T (p.Glu2490Asp)
c.7389G>T (p.Glu2463Asp)
n.6740G>T
c.7398G>T (p.Glu2466Asp)
c.7275G>T (p.Glu2425Asp)
n.1525G>T
c.4881G>T (p.Glu1627Asp)
c.7494G>T (p.Glu2498Asp)
c.5304G>T (p.Glu1768Asp)
c.4980G>T (p.Glu1660Asp)
11g.118503291T>ACA382805405KMT2Ac.7498T>A (p.Phe2500Ile)
c.7489T>A (p.Phe2497Ile)
c.1438T>A (p.Phe480Ile)
c.1696T>A (p.Phe566Ile)
c.7471T>A (p.Phe2491Ile)
c.7390T>A (p.Phe2464Ile)
n.6741T>A
c.7399T>A (p.Phe2467Ile)
c.7276T>A (p.Phe2426Ile)
n.1526T>A
c.4882T>A (p.Phe1628Ile)
c.7495T>A (p.Phe2499Ile)
c.5305T>A (p.Phe1769Ile)
c.4981T>A (p.Phe1661Ile)
11g.118503291T>CCA382805407KMT2Ac.7498T>C (p.Phe2500Leu)
c.7489T>C (p.Phe2497Leu)
c.1438T>C (p.Phe480Leu)
c.1696T>C (p.Phe566Leu)
c.7471T>C (p.Phe2491Leu)
c.7390T>C (p.Phe2464Leu)
n.6741T>C
c.7399T>C (p.Phe2467Leu)
c.7276T>C (p.Phe2426Leu)
n.1526T>C
c.4882T>C (p.Phe1628Leu)
c.7495T>C (p.Phe2499Leu)
c.5305T>C (p.Phe1769Leu)
c.4981T>C (p.Phe1661Leu)
11g.118503291T>GCA382805409KMT2Ac.7498T>G (p.Phe2500Val)
c.7489T>G (p.Phe2497Val)
c.1438T>G (p.Phe480Val)
c.1696T>G (p.Phe566Val)
c.7471T>G (p.Phe2491Val)
c.7390T>G (p.Phe2464Val)
n.6741T>G
c.7399T>G (p.Phe2467Val)
c.7276T>G (p.Phe2426Val)
n.1526T>G
c.4882T>G (p.Phe1628Val)
c.7495T>G (p.Phe2499Val)
c.5305T>G (p.Phe1769Val)
c.4981T>G (p.Phe1661Val)
11g.118503292T>ACA382805410KMT2Ac.7499T>A (p.Phe2500Tyr)
c.7490T>A (p.Phe2497Tyr)
c.1439T>A (p.Phe480Tyr)
c.1697T>A (p.Phe566Tyr)
c.7472T>A (p.Phe2491Tyr)
c.7391T>A (p.Phe2464Tyr)
n.6742T>A
c.7400T>A (p.Phe2467Tyr)
c.7277T>A (p.Phe2426Tyr)
n.1527T>A
c.4883T>A (p.Phe1628Tyr)
c.7496T>A (p.Phe2499Tyr)
c.5306T>A (p.Phe1769Tyr)
c.4982T>A (p.Phe1661Tyr)
11g.118503292T>CCA382805413KMT2Ac.7499T>C (p.Phe2500Ser)
c.7490T>C (p.Phe2497Ser)
c.1439T>C (p.Phe480Ser)
c.1697T>C (p.Phe566Ser)
c.7472T>C (p.Phe2491Ser)
c.7391T>C (p.Phe2464Ser)
n.6742T>C
c.7400T>C (p.Phe2467Ser)
c.7277T>C (p.Phe2426Ser)
n.1527T>C
c.4883T>C (p.Phe1628Ser)
c.7496T>C (p.Phe2499Ser)
c.5306T>C (p.Phe1769Ser)
c.4982T>C (p.Phe1661Ser)
11g.118503292T>GCA382805416KMT2Ac.7499T>G (p.Phe2500Cys)
c.7490T>G (p.Phe2497Cys)
c.1439T>G (p.Phe480Cys)
c.1697T>G (p.Phe566Cys)
c.7472T>G (p.Phe2491Cys)
c.7391T>G (p.Phe2464Cys)
n.6742T>G
c.7400T>G (p.Phe2467Cys)
c.7277T>G (p.Phe2426Cys)
n.1527T>G
c.4883T>G (p.Phe1628Cys)
c.7496T>G (p.Phe2499Cys)
c.5306T>G (p.Phe1769Cys)
c.4982T>G (p.Phe1661Cys)
11g.118503293T>ACA382805418KMT2Ac.7500T>A (p.Phe2500Leu)
c.7491T>A (p.Phe2497Leu)
c.1440T>A (p.Phe480Leu)
c.1698T>A (p.Phe566Leu)
c.7473T>A (p.Phe2491Leu)
c.7392T>A (p.Phe2464Leu)
n.6743T>A
c.7401T>A (p.Phe2467Leu)
c.7278T>A (p.Phe2426Leu)
n.1528T>A
c.4884T>A (p.Phe1628Leu)
c.7497T>A (p.Phe2499Leu)
c.5307T>A (p.Phe1769Leu)
c.4983T>A (p.Phe1661Leu)
11g.118503293T>CCA477359395KMT2Ac.7500T>C (p.Phe2500=)
c.7491T>C (p.Phe2497=)
c.1440T>C (p.Phe480=)
c.1698T>C (p.Phe566=)
c.7473T>C (p.Phe2491=)
c.7392T>C (p.Phe2464=)
n.6743T>C
c.7401T>C (p.Phe2467=)
c.7278T>C (p.Phe2426=)
n.1528T>C
c.4884T>C (p.Phe1628=)
c.7497T>C (p.Phe2499=)
c.5307T>C (p.Phe1769=)
c.4983T>C (p.Phe1661=)
11g.118503293T>GCA382805420KMT2Ac.7500T>G (p.Phe2500Leu)
c.7491T>G (p.Phe2497Leu)
c.1440T>G (p.Phe480Leu)
c.1698T>G (p.Phe566Leu)
c.7473T>G (p.Phe2491Leu)
c.7392T>G (p.Phe2464Leu)
n.6743T>G
c.7401T>G (p.Phe2467Leu)
c.7278T>G (p.Phe2426Leu)
n.1528T>G
c.4884T>G (p.Phe1628Leu)
c.7497T>G (p.Phe2499Leu)
c.5307T>G (p.Phe1769Leu)
c.4983T>G (p.Phe1661Leu)
11g.118503294A>CCA382805422KMT2Ac.7501A>C (p.Met2501Leu)
c.7492A>C (p.Met2498Leu)
c.1441A>C (p.Met481Leu)
c.1699A>C (p.Met567Leu)
c.7474A>C (p.Met2492Leu)
c.7393A>C (p.Met2465Leu)
n.6744A>C
c.7402A>C (p.Met2468Leu)
c.7279A>C (p.Met2427Leu)
n.1529A>C
c.4885A>C (p.Met1629Leu)
c.7498A>C (p.Met2500Leu)
c.5308A>C (p.Met1770Leu)
c.4984A>C (p.Met1662Leu)
 gnomAD v4
11g.118503294A>GCA382805423KMT2Ac.7501A>G (p.Met2501Val)
c.7492A>G (p.Met2498Val)
c.1441A>G (p.Met481Val)
c.1699A>G (p.Met567Val)
c.7474A>G (p.Met2492Val)
c.7393A>G (p.Met2465Val)
n.6744A>G
c.7402A>G (p.Met2468Val)
c.7279A>G (p.Met2427Val)
n.1529A>G
c.4885A>G (p.Met1629Val)
c.7498A>G (p.Met2500Val)
c.5308A>G (p.Met1770Val)
c.4984A>G (p.Met1662Val)
 ClinVar
11g.118503294A>TCA382805425KMT2Ac.7501A>T (p.Met2501Leu)
c.7492A>T (p.Met2498Leu)
c.1441A>T (p.Met481Leu)
c.1699A>T (p.Met567Leu)
c.7474A>T (p.Met2492Leu)
c.7393A>T (p.Met2465Leu)
n.6744A>T
c.7402A>T (p.Met2468Leu)
c.7279A>T (p.Met2427Leu)
n.1529A>T
c.4885A>T (p.Met1629Leu)
c.7498A>T (p.Met2500Leu)
c.5308A>T (p.Met1770Leu)
c.4984A>T (p.Met1662Leu)
 ClinVar dbSNP
11g.118503295T>ACA382805428KMT2Ac.7502T>A (p.Met2501Lys)
c.7493T>A (p.Met2498Lys)
c.1442T>A (p.Met481Lys)
c.1700T>A (p.Met567Lys)
c.7475T>A (p.Met2492Lys)
c.7394T>A (p.Met2465Lys)
n.6745T>A
c.7403T>A (p.Met2468Lys)
c.7280T>A (p.Met2427Lys)
n.1530T>A
c.4886T>A (p.Met1629Lys)
c.7499T>A (p.Met2500Lys)
c.5309T>A (p.Met1770Lys)
c.4985T>A (p.Met1662Lys)
11g.118503295T>CCA382805429KMT2Ac.7502T>C (p.Met2501Thr)
c.7493T>C (p.Met2498Thr)
c.1442T>C (p.Met481Thr)
c.1700T>C (p.Met567Thr)
c.7475T>C (p.Met2492Thr)
c.7394T>C (p.Met2465Thr)
n.6745T>C
c.7403T>C (p.Met2468Thr)
c.7280T>C (p.Met2427Thr)
n.1530T>C
c.4886T>C (p.Met1629Thr)
c.7499T>C (p.Met2500Thr)
c.5309T>C (p.Met1770Thr)
c.4985T>C (p.Met1662Thr)
11g.118503295T>GCA382805431KMT2Ac.7502T>G (p.Met2501Arg)
c.7493T>G (p.Met2498Arg)
c.1442T>G (p.Met481Arg)
c.1700T>G (p.Met567Arg)
c.7475T>G (p.Met2492Arg)
c.7394T>G (p.Met2465Arg)
n.6745T>G
c.7403T>G (p.Met2468Arg)
c.7280T>G (p.Met2427Arg)
n.1530T>G
c.4886T>G (p.Met1629Arg)
c.7499T>G (p.Met2500Arg)
c.5309T>G (p.Met1770Arg)
c.4985T>G (p.Met1662Arg)
11g.118503296G>ACA382805433KMT2Ac.7503G>A (p.Met2501Ile)
c.7494G>A (p.Met2498Ile)
c.1443G>A (p.Met481Ile)
c.1701G>A (p.Met567Ile)
c.7476G>A (p.Met2492Ile)
c.7395G>A (p.Met2465Ile)
n.6746G>A
c.7404G>A (p.Met2468Ile)
c.7281G>A (p.Met2427Ile)
n.1531G>A
c.4887G>A (p.Met1629Ile)
c.7500G>A (p.Met2500Ile)
c.5310G>A (p.Met1770Ile)
c.4986G>A (p.Met1662Ile)
11g.118503296G>CCA382805435KMT2Ac.7503G>C (p.Met2501Ile)
c.7494G>C (p.Met2498Ile)
c.1443G>C (p.Met481Ile)
c.1701G>C (p.Met567Ile)
c.7476G>C (p.Met2492Ile)
c.7395G>C (p.Met2465Ile)
n.6746G>C
c.7404G>C (p.Met2468Ile)
c.7281G>C (p.Met2427Ile)
n.1531G>C
c.4887G>C (p.Met1629Ile)
c.7500G>C (p.Met2500Ile)
c.5310G>C (p.Met1770Ile)
c.4986G>C (p.Met1662Ile)
11g.118503296G>TCA382805436KMT2Ac.7503G>T (p.Met2501Ile)
c.7494G>T (p.Met2498Ile)
c.1443G>T (p.Met481Ile)
c.1701G>T (p.Met567Ile)
c.7476G>T (p.Met2492Ile)
c.7395G>T (p.Met2465Ile)
n.6746G>T
c.7404G>T (p.Met2468Ile)
c.7281G>T (p.Met2427Ile)
n.1531G>T
c.4887G>T (p.Met1629Ile)
c.7500G>T (p.Met2500Ile)
c.5310G>T (p.Met1770Ile)
c.4986G>T (p.Met1662Ile)
11g.118503297G>ACA382805438KMT2Ac.7504G>A (p.Asp2502Asn)
c.7495G>A (p.Asp2499Asn)
c.1444G>A (p.Asp482Asn)
c.1702G>A (p.Asp568Asn)
c.7477G>A (p.Asp2493Asn)
c.7396G>A (p.Asp2466Asn)
n.6747G>A
c.7405G>A (p.Asp2469Asn)
c.7282G>A (p.Asp2428Asn)
n.1532G>A
c.4888G>A (p.Asp1630Asn)
c.7501G>A (p.Asp2501Asn)
c.5311G>A (p.Asp1771Asn)
c.4987G>A (p.Asp1663Asn)
11g.118503297G>CCA382805440KMT2Ac.7504G>C (p.Asp2502His)
c.7495G>C (p.Asp2499His)
c.1444G>C (p.Asp482His)
c.1702G>C (p.Asp568His)
c.7477G>C (p.Asp2493His)
c.7396G>C (p.Asp2466His)
n.6747G>C
c.7405G>C (p.Asp2469His)
c.7282G>C (p.Asp2428His)
n.1532G>C
c.4888G>C (p.Asp1630His)
c.7501G>C (p.Asp2501His)
c.5311G>C (p.Asp1771His)
c.4987G>C (p.Asp1663His)
11g.118503297G>TCA382805442KMT2Ac.7504G>T (p.Asp2502Tyr)
c.7495G>T (p.Asp2499Tyr)
c.1444G>T (p.Asp482Tyr)
c.1702G>T (p.Asp568Tyr)
c.7477G>T (p.Asp2493Tyr)
c.7396G>T (p.Asp2466Tyr)
n.6747G>T
c.7405G>T (p.Asp2469Tyr)
c.7282G>T (p.Asp2428Tyr)
n.1532G>T
c.4888G>T (p.Asp1630Tyr)
c.7501G>T (p.Asp2501Tyr)
c.5311G>T (p.Asp1771Tyr)
c.4987G>T (p.Asp1663Tyr)
11g.118503298A>CCA382805447KMT2Ac.7505A>C (p.Asp2502Ala)
c.7496A>C (p.Asp2499Ala)
c.1445A>C (p.Asp482Ala)
c.1703A>C (p.Asp568Ala)
c.7478A>C (p.Asp2493Ala)
c.7397A>C (p.Asp2466Ala)
n.6748A>C
c.7406A>C (p.Asp2469Ala)
c.7283A>C (p.Asp2428Ala)
n.1533A>C
c.4889A>C (p.Asp1630Ala)
c.7502A>C (p.Asp2501Ala)
c.5312A>C (p.Asp1771Ala)
c.4988A>C (p.Asp1663Ala)
11g.118503298A>GCA382805448KMT2Ac.7505A>G (p.Asp2502Gly)
c.7496A>G (p.Asp2499Gly)
c.1445A>G (p.Asp482Gly)
c.1703A>G (p.Asp568Gly)
c.7478A>G (p.Asp2493Gly)
c.7397A>G (p.Asp2466Gly)
n.6748A>G
c.7406A>G (p.Asp2469Gly)
c.7283A>G (p.Asp2428Gly)
n.1533A>G
c.4889A>G (p.Asp1630Gly)
c.7502A>G (p.Asp2501Gly)
c.5312A>G (p.Asp1771Gly)
c.4988A>G (p.Asp1663Gly)
 gnomAD v4
11g.118503298A>TCA382805445KMT2Ac.7505A>T (p.Asp2502Val)
c.7496A>T (p.Asp2499Val)
c.1445A>T (p.Asp482Val)
c.1703A>T (p.Asp568Val)
c.7478A>T (p.Asp2493Val)
c.7397A>T (p.Asp2466Val)
n.6748A>T
c.7406A>T (p.Asp2469Val)
c.7283A>T (p.Asp2428Val)
n.1533A>T
c.4889A>T (p.Asp1630Val)
c.7502A>T (p.Asp2501Val)
c.5312A>T (p.Asp1771Val)
c.4988A>T (p.Asp1663Val)
 ClinVar gnomAD v4
11g.118503299T>ACA382805450KMT2Ac.7506T>A (p.Asp2502Glu)
c.7497T>A (p.Asp2499Glu)
c.1446T>A (p.Asp482Glu)
c.1704T>A (p.Asp568Glu)
c.7479T>A (p.Asp2493Glu)
c.7398T>A (p.Asp2466Glu)
n.6749T>A
c.7407T>A (p.Asp2469Glu)
c.7284T>A (p.Asp2428Glu)
n.1534T>A
c.4890T>A (p.Asp1630Glu)
c.7503T>A (p.Asp2501Glu)
c.5313T>A (p.Asp1771Glu)
c.4989T>A (p.Asp1663Glu)
11g.118503299T>CCA477359401KMT2Ac.7506T>C (p.Asp2502=)
c.7497T>C (p.Asp2499=)
c.1446T>C (p.Asp482=)
c.1704T>C (p.Asp568=)
c.7479T>C (p.Asp2493=)
c.7398T>C (p.Asp2466=)
n.6749T>C
c.7407T>C (p.Asp2469=)
c.7284T>C (p.Asp2428=)
n.1534T>C
c.4890T>C (p.Asp1630=)
c.7503T>C (p.Asp2501=)
c.5313T>C (p.Asp1771=)
c.4989T>C (p.Asp1663=)
11g.118503299T>GCA382805452KMT2Ac.7506T>G (p.Asp2502Glu)
c.7497T>G (p.Asp2499Glu)
c.1446T>G (p.Asp482Glu)
c.1704T>G (p.Asp568Glu)
c.7479T>G (p.Asp2493Glu)
c.7398T>G (p.Asp2466Glu)
n.6749T>G
c.7407T>G (p.Asp2469Glu)
c.7284T>G (p.Asp2428Glu)
n.1534T>G
c.4890T>G (p.Asp1630Glu)
c.7503T>G (p.Asp2501Glu)
c.5313T>G (p.Asp1771Glu)
c.4989T>G (p.Asp1663Glu)
11g.118503300G>ACA382805454KMT2Ac.7507G>A (p.Glu2503Lys)
c.7498G>A (p.Glu2500Lys)
c.1447G>A (p.Glu483Lys)
c.1705G>A (p.Glu569Lys)
c.7480G>A (p.Glu2494Lys)
c.7399G>A (p.Glu2467Lys)
n.6750G>A
c.7408G>A (p.Glu2470Lys)
c.7285G>A (p.Glu2429Lys)
n.1535G>A
c.4891G>A (p.Glu1631Lys)
c.7504G>A (p.Glu2502Lys)
c.5314G>A (p.Glu1772Lys)
c.4990G>A (p.Glu1664Lys)
 dbSNP gnomAD v4
11g.118503300G>CCA382805455KMT2Ac.7507G>C (p.Glu2503Gln)
c.7498G>C (p.Glu2500Gln)
c.1447G>C (p.Glu483Gln)
c.1705G>C (p.Glu569Gln)
c.7480G>C (p.Glu2494Gln)
c.7399G>C (p.Glu2467Gln)
n.6750G>C
c.7408G>C (p.Glu2470Gln)
c.7285G>C (p.Glu2429Gln)
n.1535G>C
c.4891G>C (p.Glu1631Gln)
c.7504G>C (p.Glu2502Gln)
c.5314G>C (p.Glu1772Gln)
c.4990G>C (p.Glu1664Gln)
11g.118503300G=CA2003527686KMT2Ac.7507G= (p.Glu2503=)
c.7498G= (p.Glu2500=)
c.1447G= (p.Glu483=)
c.1705G= (p.Glu569=)
c.7480G= (p.Glu2494=)
c.7399G= (p.Glu2467=)
n.6750G=
c.7408G= (p.Glu2470=)
c.7285G= (p.Glu2429=)
n.1535G=
c.4891G= (p.Glu1631=)
c.7504G= (p.Glu2502=)
c.5314G= (p.Glu1772=)
c.4990G= (p.Glu1664=)
11g.118503300G>TCA382805457KMT2Ac.7507G>T (p.Glu2503Ter)
c.7498G>T (p.Glu2500Ter)
c.1447G>T (p.Glu483Ter)
c.1705G>T (p.Glu569Ter)
c.7480G>T (p.Glu2494Ter)
c.7399G>T (p.Glu2467Ter)
n.6750G>T
c.7408G>T (p.Glu2470Ter)
c.7285G>T (p.Glu2429Ter)
n.1535G>T
c.4891G>T (p.Glu1631Ter)
c.7504G>T (p.Glu2502Ter)
c.5314G>T (p.Glu1772Ter)
c.4990G>T (p.Glu1664Ter)
11g.118503301A=CA2003527691KMT2Ac.7508A= (p.Glu2503=)
c.7499A= (p.Glu2500=)
c.1448A= (p.Glu483=)
c.1706A= (p.Glu569=)
c.7481A= (p.Glu2494=)
c.7400A= (p.Glu2467=)
n.6751A=
c.7409A= (p.Glu2470=)
c.7286A= (p.Glu2429=)
n.1536A=
c.4892A= (p.Glu1631=)
c.7505A= (p.Glu2502=)
c.5315A= (p.Glu1772=)
c.4991A= (p.Glu1664=)
11g.118503301A>CCA382805462KMT2Ac.7508A>C (p.Glu2503Ala)
c.7499A>C (p.Glu2500Ala)
c.1448A>C (p.Glu483Ala)
c.1706A>C (p.Glu569Ala)
c.7481A>C (p.Glu2494Ala)
c.7400A>C (p.Glu2467Ala)
n.6751A>C
c.7409A>C (p.Glu2470Ala)
c.7286A>C (p.Glu2429Ala)
n.1536A>C
c.4892A>C (p.Glu1631Ala)
c.7505A>C (p.Glu2502Ala)
c.5315A>C (p.Glu1772Ala)
c.4991A>C (p.Glu1664Ala)
11g.118503301A>GCA6304395KMT2Ac.7508A>G (p.Glu2503Gly)
c.7499A>G (p.Glu2500Gly)
c.1448A>G (p.Glu483Gly)
c.1706A>G (p.Glu569Gly)
c.7481A>G (p.Glu2494Gly)
c.7400A>G (p.Glu2467Gly)
n.6751A>G
c.7409A>G (p.Glu2470Gly)
c.7286A>G (p.Glu2429Gly)
n.1536A>G
c.4892A>G (p.Glu1631Gly)
c.7505A>G (p.Glu2502Gly)
c.5315A>G (p.Glu1772Gly)
c.4991A>G (p.Glu1664Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503301A>TCA382805461KMT2Ac.7508A>T (p.Glu2503Val)
c.7499A>T (p.Glu2500Val)
c.1448A>T (p.Glu483Val)
c.1706A>T (p.Glu569Val)
c.7481A>T (p.Glu2494Val)
c.7400A>T (p.Glu2467Val)
n.6751A>T
c.7409A>T (p.Glu2470Val)
c.7286A>T (p.Glu2429Val)
n.1536A>T
c.4892A>T (p.Glu1631Val)
c.7505A>T (p.Glu2502Val)
c.5315A>T (p.Glu1772Val)
c.4991A>T (p.Glu1664Val)
11g.118503302G>ACA477359405KMT2Ac.7509G>A (p.Glu2503=)
c.7500G>A (p.Glu2500=)
c.1449G>A (p.Glu483=)
c.1707G>A (p.Glu569=)
c.7482G>A (p.Glu2494=)
c.7401G>A (p.Glu2467=)
n.6752G>A
c.7410G>A (p.Glu2470=)
c.7287G>A (p.Glu2429=)
n.1537G>A
c.4893G>A (p.Glu1631=)
c.7506G>A (p.Glu2502=)
c.5316G>A (p.Glu1772=)
c.4992G>A (p.Glu1664=)
 gnomAD v4
11g.118503302G>CCA382805464KMT2Ac.7509G>C (p.Glu2503Asp)
c.7500G>C (p.Glu2500Asp)
c.1449G>C (p.Glu483Asp)
c.1707G>C (p.Glu569Asp)
c.7482G>C (p.Glu2494Asp)
c.7401G>C (p.Glu2467Asp)
n.6752G>C
c.7410G>C (p.Glu2470Asp)
c.7287G>C (p.Glu2429Asp)
n.1537G>C
c.4893G>C (p.Glu1631Asp)
c.7506G>C (p.Glu2502Asp)
c.5316G>C (p.Glu1772Asp)
c.4992G>C (p.Glu1664Asp)
11g.118503302G>TCA382805466KMT2Ac.7509G>T (p.Glu2503Asp)
c.7500G>T (p.Glu2500Asp)
c.1449G>T (p.Glu483Asp)
c.1707G>T (p.Glu569Asp)
c.7482G>T (p.Glu2494Asp)
c.7401G>T (p.Glu2467Asp)
n.6752G>T
c.7410G>T (p.Glu2470Asp)
c.7287G>T (p.Glu2429Asp)
n.1537G>T
c.4893G>T (p.Glu1631Asp)
c.7506G>T (p.Glu2502Asp)
c.5316G>T (p.Glu1772Asp)
c.4992G>T (p.Glu1664Asp)
11g.118503303G>ACA382805468KMT2Ac.7510G>A (p.Val2504Ile)
c.7501G>A (p.Val2501Ile)
c.1450G>A (p.Val484Ile)
c.1708G>A (p.Val570Ile)
c.7483G>A (p.Val2495Ile)
c.7402G>A (p.Val2468Ile)
n.6753G>A
c.7411G>A (p.Val2471Ile)
c.7288G>A (p.Val2430Ile)
n.1538G>A
c.4894G>A (p.Val1632Ile)
c.7507G>A (p.Val2503Ile)
c.5317G>A (p.Val1773Ile)
c.4993G>A (p.Val1665Ile)
11g.118503303G>CCA382805470KMT2Ac.7510G>C (p.Val2504Leu)
c.7501G>C (p.Val2501Leu)
c.1450G>C (p.Val484Leu)
c.1708G>C (p.Val570Leu)
c.7483G>C (p.Val2495Leu)
c.7402G>C (p.Val2468Leu)
n.6753G>C
c.7411G>C (p.Val2471Leu)
c.7288G>C (p.Val2430Leu)
n.1538G>C
c.4894G>C (p.Val1632Leu)
c.7507G>C (p.Val2503Leu)
c.5317G>C (p.Val1773Leu)
c.4993G>C (p.Val1665Leu)
11g.118503303G>TCA382805471KMT2Ac.7510G>T (p.Val2504Phe)
c.7501G>T (p.Val2501Phe)
c.1450G>T (p.Val484Phe)
c.1708G>T (p.Val570Phe)
c.7483G>T (p.Val2495Phe)
c.7402G>T (p.Val2468Phe)
n.6753G>T
c.7411G>T (p.Val2471Phe)
c.7288G>T (p.Val2430Phe)
n.1538G>T
c.4894G>T (p.Val1632Phe)
c.7507G>T (p.Val2503Phe)
c.5317G>T (p.Val1773Phe)
c.4993G>T (p.Val1665Phe)
 gnomAD v4
11g.118503304T>ACA382805478KMT2Ac.7511T>A (p.Val2504Asp)
c.7502T>A (p.Val2501Asp)
c.1451T>A (p.Val484Asp)
c.1709T>A (p.Val570Asp)
c.7484T>A (p.Val2495Asp)
c.7403T>A (p.Val2468Asp)
n.6754T>A
c.7412T>A (p.Val2471Asp)
c.7289T>A (p.Val2430Asp)
n.1539T>A
c.4895T>A (p.Val1632Asp)
c.7508T>A (p.Val2503Asp)
c.5318T>A (p.Val1773Asp)
c.4994T>A (p.Val1665Asp)
11g.118503304T>CCA382805474KMT2Ac.7511T>C (p.Val2504Ala)
c.7502T>C (p.Val2501Ala)
c.1451T>C (p.Val484Ala)
c.1709T>C (p.Val570Ala)
c.7484T>C (p.Val2495Ala)
c.7403T>C (p.Val2468Ala)
n.6754T>C
c.7412T>C (p.Val2471Ala)
c.7289T>C (p.Val2430Ala)
n.1539T>C
c.4895T>C (p.Val1632Ala)
c.7508T>C (p.Val2503Ala)
c.5318T>C (p.Val1773Ala)
c.4994T>C (p.Val1665Ala)
11g.118503304T>GCA382805476KMT2Ac.7511T>G (p.Val2504Gly)
c.7502T>G (p.Val2501Gly)
c.1451T>G (p.Val484Gly)
c.1709T>G (p.Val570Gly)
c.7484T>G (p.Val2495Gly)
c.7403T>G (p.Val2468Gly)
n.6754T>G
c.7412T>G (p.Val2471Gly)
c.7289T>G (p.Val2430Gly)
n.1539T>G
c.4895T>G (p.Val1632Gly)
c.7508T>G (p.Val2503Gly)
c.5318T>G (p.Val1773Gly)
c.4994T>G (p.Val1665Gly)
11g.118503307delCA2725086150KMT2Ac.7514del (p.Leu2505Ter)
c.7505del (p.Leu2502Ter)
c.1454del (p.Leu485Ter)
c.1712del (p.Leu571Ter)
c.7487del (p.Leu2496Ter)
c.7406del (p.Leu2469Ter)
n.6757del
c.7415del (p.Leu2472Ter)
c.7292del (p.Leu2431Ter)
n.1542del
c.4898del (p.Leu1633Ter)
c.7511del (p.Leu2504Ter)
c.5321del (p.Leu1774Ter)
c.4997del (p.Leu1666Ter)
 dbSNP
11g.118503305T>ACA477359409KMT2Ac.7512T>A (p.Val2504=)
c.7503T>A (p.Val2501=)
c.1452T>A (p.Val484=)
c.1710T>A (p.Val570=)
c.7485T>A (p.Val2495=)
c.7404T>A (p.Val2468=)
n.6755T>A
c.7413T>A (p.Val2471=)
c.7290T>A (p.Val2430=)
n.1540T>A
c.4896T>A (p.Val1632=)
c.7509T>A (p.Val2503=)
c.5319T>A (p.Val1773=)
c.4995T>A (p.Val1665=)
11g.118503305T>CCA477359410KMT2Ac.7512T>C (p.Val2504=)
c.7503T>C (p.Val2501=)
c.1452T>C (p.Val484=)
c.1710T>C (p.Val570=)
c.7485T>C (p.Val2495=)
c.7404T>C (p.Val2468=)
n.6755T>C
c.7413T>C (p.Val2471=)
c.7290T>C (p.Val2430=)
n.1540T>C
c.4896T>C (p.Val1632=)
c.7509T>C (p.Val2503=)
c.5319T>C (p.Val1773=)
c.4995T>C (p.Val1665=)
 gnomAD v4
11g.118503305T>GCA477359411KMT2Ac.7512T>G (p.Val2504=)
c.7503T>G (p.Val2501=)
c.1452T>G (p.Val484=)
c.1710T>G (p.Val570=)
c.7485T>G (p.Val2495=)
c.7404T>G (p.Val2468=)
n.6755T>G
c.7413T>G (p.Val2471=)
c.7290T>G (p.Val2430=)
n.1540T>G
c.4896T>G (p.Val1632=)
c.7509T>G (p.Val2503=)
c.5319T>G (p.Val1773=)
c.4995T>G (p.Val1665=)
 gnomAD v4
11g.118503306T>ACA382805480KMT2Ac.7513T>A (p.Leu2505Met)
c.7504T>A (p.Leu2502Met)
c.1453T>A (p.Leu485Met)
c.1711T>A (p.Leu571Met)
c.7486T>A (p.Leu2496Met)
c.7405T>A (p.Leu2469Met)
n.6756T>A
c.7414T>A (p.Leu2472Met)
c.7291T>A (p.Leu2431Met)
n.1541T>A
c.4897T>A (p.Leu1633Met)
c.7510T>A (p.Leu2504Met)
c.5320T>A (p.Leu1774Met)
c.4996T>A (p.Leu1666Met)
11g.118503306T>CCA477359413KMT2Ac.7513T>C (p.Leu2505=)
c.7504T>C (p.Leu2502=)
c.1453T>C (p.Leu485=)
c.1711T>C (p.Leu571=)
c.7486T>C (p.Leu2496=)
c.7405T>C (p.Leu2469=)
n.6756T>C
c.7414T>C (p.Leu2472=)
c.7291T>C (p.Leu2431=)
n.1541T>C
c.4897T>C (p.Leu1633=)
c.7510T>C (p.Leu2504=)
c.5320T>C (p.Leu1774=)
c.4996T>C (p.Leu1666=)
11g.118503306T>GCA382805481KMT2Ac.7513T>G (p.Leu2505Val)
c.7504T>G (p.Leu2502Val)
c.1453T>G (p.Leu485Val)
c.1711T>G (p.Leu571Val)
c.7486T>G (p.Leu2496Val)
c.7405T>G (p.Leu2469Val)
n.6756T>G
c.7414T>G (p.Leu2472Val)
c.7291T>G (p.Leu2431Val)
n.1541T>G
c.4897T>G (p.Leu1633Val)
c.7510T>G (p.Leu2504Val)
c.5320T>G (p.Leu1774Val)
c.4996T>G (p.Leu1666Val)
11g.118503307T>ACA382805482KMT2Ac.7514T>A (p.Leu2505Ter)
c.7505T>A (p.Leu2502Ter)
c.1454T>A (p.Leu485Ter)
c.1712T>A (p.Leu571Ter)
c.7487T>A (p.Leu2496Ter)
c.7406T>A (p.Leu2469Ter)
n.6757T>A
c.7415T>A (p.Leu2472Ter)
c.7292T>A (p.Leu2431Ter)
n.1542T>A
c.4898T>A (p.Leu1633Ter)
c.7511T>A (p.Leu2504Ter)
c.5321T>A (p.Leu1774Ter)
c.4997T>A (p.Leu1666Ter)
11g.118503307T>CCA382805485KMT2Ac.7514T>C (p.Leu2505Ser)
c.7505T>C (p.Leu2502Ser)
c.1454T>C (p.Leu485Ser)
c.1712T>C (p.Leu571Ser)
c.7487T>C (p.Leu2496Ser)
c.7406T>C (p.Leu2469Ser)
n.6757T>C
c.7415T>C (p.Leu2472Ser)
c.7292T>C (p.Leu2431Ser)
n.1542T>C
c.4898T>C (p.Leu1633Ser)
c.7511T>C (p.Leu2504Ser)
c.5321T>C (p.Leu1774Ser)
c.4997T>C (p.Leu1666Ser)
11g.118503307T>GCA382805483KMT2Ac.7514T>G (p.Leu2505Trp)
c.7505T>G (p.Leu2502Trp)
c.1454T>G (p.Leu485Trp)
c.1712T>G (p.Leu571Trp)
c.7487T>G (p.Leu2496Trp)
c.7406T>G (p.Leu2469Trp)
n.6757T>G
c.7415T>G (p.Leu2472Trp)
c.7292T>G (p.Leu2431Trp)
n.1542T>G
c.4898T>G (p.Leu1633Trp)
c.7511T>G (p.Leu2504Trp)
c.5321T>G (p.Leu1774Trp)
c.4997T>G (p.Leu1666Trp)
11g.118503308G>ACA477359415KMT2Ac.7515G>A (p.Leu2505=)
c.7506G>A (p.Leu2502=)
c.1455G>A (p.Leu485=)
c.1713G>A (p.Leu571=)
c.7488G>A (p.Leu2496=)
c.7407G>A (p.Leu2469=)
n.6758G>A
c.7416G>A (p.Leu2472=)
c.7293G>A (p.Leu2431=)
n.1543G>A
c.4899G>A (p.Leu1633=)
c.7512G>A (p.Leu2504=)
c.5322G>A (p.Leu1774=)
c.4998G>A (p.Leu1666=)
11g.118503308G>CCA382805486KMT2Ac.7515G>C (p.Leu2505Phe)
c.7506G>C (p.Leu2502Phe)
c.1455G>C (p.Leu485Phe)
c.1713G>C (p.Leu571Phe)
c.7488G>C (p.Leu2496Phe)
c.7407G>C (p.Leu2469Phe)
n.6758G>C
c.7416G>C (p.Leu2472Phe)
c.7293G>C (p.Leu2431Phe)
n.1543G>C
c.4899G>C (p.Leu1633Phe)
c.7512G>C (p.Leu2504Phe)
c.5322G>C (p.Leu1774Phe)
c.4998G>C (p.Leu1666Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503308G=CA2003527696KMT2Ac.7515G= (p.Leu2505=)
c.7506G= (p.Leu2502=)
c.1455G= (p.Leu485=)
c.1713G= (p.Leu571=)
c.7488G= (p.Leu2496=)
c.7407G= (p.Leu2469=)
n.6758G=
c.7416G= (p.Leu2472=)
c.7293G= (p.Leu2431=)
n.1543G=
c.4899G= (p.Leu1633=)
c.7512G= (p.Leu2504=)
c.5322G= (p.Leu1774=)
c.4998G= (p.Leu1666=)
11g.118503308G>TCA382805488KMT2Ac.7515G>T (p.Leu2505Phe)
c.7506G>T (p.Leu2502Phe)
c.1455G>T (p.Leu485Phe)
c.1713G>T (p.Leu571Phe)
c.7488G>T (p.Leu2496Phe)
c.7407G>T (p.Leu2469Phe)
n.6758G>T
c.7416G>T (p.Leu2472Phe)
c.7293G>T (p.Leu2431Phe)
n.1543G>T
c.4899G>T (p.Leu1633Phe)
c.7512G>T (p.Leu2504Phe)
c.5322G>T (p.Leu1774Phe)
c.4998G>T (p.Leu1666Phe)
11g.118503309A>CCA382805490KMT2Ac.7516A>C (p.Thr2506Pro)
c.7507A>C (p.Thr2503Pro)
c.1456A>C (p.Thr486Pro)
c.1714A>C (p.Thr572Pro)
c.7489A>C (p.Thr2497Pro)
c.7408A>C (p.Thr2470Pro)
n.6759A>C
c.7417A>C (p.Thr2473Pro)
c.7294A>C (p.Thr2432Pro)
n.1544A>C
c.4900A>C (p.Thr1634Pro)
c.7513A>C (p.Thr2505Pro)
c.5323A>C (p.Thr1775Pro)
c.4999A>C (p.Thr1667Pro)
11g.118503309A>GCA382805492KMT2Ac.7516A>G (p.Thr2506Ala)
c.7507A>G (p.Thr2503Ala)
c.1456A>G (p.Thr486Ala)
c.1714A>G (p.Thr572Ala)
c.7489A>G (p.Thr2497Ala)
c.7408A>G (p.Thr2470Ala)
n.6759A>G
c.7417A>G (p.Thr2473Ala)
c.7294A>G (p.Thr2432Ala)
n.1544A>G
c.4900A>G (p.Thr1634Ala)
c.7513A>G (p.Thr2505Ala)
c.5323A>G (p.Thr1775Ala)
c.4999A>G (p.Thr1667Ala)
11g.118503309A>TCA382805494KMT2Ac.7516A>T (p.Thr2506Ser)
c.7507A>T (p.Thr2503Ser)
c.1456A>T (p.Thr486Ser)
c.1714A>T (p.Thr572Ser)
c.7489A>T (p.Thr2497Ser)
c.7408A>T (p.Thr2470Ser)
n.6759A>T
c.7417A>T (p.Thr2473Ser)
c.7294A>T (p.Thr2432Ser)
n.1544A>T
c.4900A>T (p.Thr1634Ser)
c.7513A>T (p.Thr2505Ser)
c.5323A>T (p.Thr1775Ser)
c.4999A>T (p.Thr1667Ser)
 dbSNP
11g.118503310C>ACA382805496KMT2Ac.7517C>A (p.Thr2506Asn)
c.7508C>A (p.Thr2503Asn)
c.1457C>A (p.Thr486Asn)
c.1715C>A (p.Thr572Asn)
c.7490C>A (p.Thr2497Asn)
c.7409C>A (p.Thr2470Asn)
n.6760C>A
c.7418C>A (p.Thr2473Asn)
c.7295C>A (p.Thr2432Asn)
n.1545C>A
c.4901C>A (p.Thr1634Asn)
c.7514C>A (p.Thr2505Asn)
c.5324C>A (p.Thr1775Asn)
c.5000C>A (p.Thr1667Asn)
 dbSNP
11g.118503310C>GCA382805498KMT2Ac.7517C>G (p.Thr2506Ser)
c.7508C>G (p.Thr2503Ser)
c.1457C>G (p.Thr486Ser)
c.1715C>G (p.Thr572Ser)
c.7490C>G (p.Thr2497Ser)
c.7409C>G (p.Thr2470Ser)
n.6760C>G
c.7418C>G (p.Thr2473Ser)
c.7295C>G (p.Thr2432Ser)
n.1545C>G
c.4901C>G (p.Thr1634Ser)
c.7514C>G (p.Thr2505Ser)
c.5324C>G (p.Thr1775Ser)
c.5000C>G (p.Thr1667Ser)
 dbSNP
11g.118503310C>TCA382805500KMT2Ac.7517C>T (p.Thr2506Ile)
c.7508C>T (p.Thr2503Ile)
c.1457C>T (p.Thr486Ile)
c.1715C>T (p.Thr572Ile)
c.7490C>T (p.Thr2497Ile)
c.7409C>T (p.Thr2470Ile)
n.6760C>T
c.7418C>T (p.Thr2473Ile)
c.7295C>T (p.Thr2432Ile)
n.1545C>T
c.4901C>T (p.Thr1634Ile)
c.7514C>T (p.Thr2505Ile)
c.5324C>T (p.Thr1775Ile)
c.5000C>T (p.Thr1667Ile)
 dbSNP gnomAD v4
11g.118503311delCA2695215550KMT2Ac.7518del (p.Pro2507LeufsTer?)
c.7509del (p.Pro2504LeufsTer?)
c.1458del (p.Pro487LeufsTer?)
c.1716del (p.Pro573LeufsTer?)
c.7491del (p.Pro2498LeufsTer?)
c.7410del (p.Pro2471LeufsTer?)
n.6761del
c.7419del (p.Pro2474LeufsTer?)
c.7296del (p.Pro2433LeufsTer?)
n.1546del
c.4902del (p.Pro1635LeufsTer?)
c.7515del (p.Pro2506LeufsTer?)
c.5325del (p.Pro1776LeufsTer?)
c.5001del (p.Pro1668LeufsTer?)
11g.118503311T>ACA477359416KMT2Ac.7518T>A (p.Thr2506=)
c.7509T>A (p.Thr2503=)
c.1458T>A (p.Thr486=)
c.1716T>A (p.Thr572=)
c.7491T>A (p.Thr2497=)
c.7410T>A (p.Thr2470=)
n.6761T>A
c.7419T>A (p.Thr2473=)
c.7296T>A (p.Thr2432=)
n.1546T>A
c.4902T>A (p.Thr1634=)
c.7515T>A (p.Thr2505=)
c.5325T>A (p.Thr1775=)
c.5001T>A (p.Thr1667=)
11g.118503311T>CCA477359417KMT2Ac.7518T>C (p.Thr2506=)
c.7509T>C (p.Thr2503=)
c.1458T>C (p.Thr486=)
c.1716T>C (p.Thr572=)
c.7491T>C (p.Thr2497=)
c.7410T>C (p.Thr2470=)
n.6761T>C
c.7419T>C (p.Thr2473=)
c.7296T>C (p.Thr2432=)
n.1546T>C
c.4902T>C (p.Thr1634=)
c.7515T>C (p.Thr2505=)
c.5325T>C (p.Thr1775=)
c.5001T>C (p.Thr1667=)
11g.118503311T>GCA477359419KMT2Ac.7518T>G (p.Thr2506=)
c.7509T>G (p.Thr2503=)
c.1458T>G (p.Thr486=)
c.1716T>G (p.Thr572=)
c.7491T>G (p.Thr2497=)
c.7410T>G (p.Thr2470=)
n.6761T>G
c.7419T>G (p.Thr2473=)
c.7296T>G (p.Thr2432=)
n.1546T>G
c.4902T>G (p.Thr1634=)
c.7515T>G (p.Thr2505=)
c.5325T>G (p.Thr1775=)
c.5001T>G (p.Thr1667=)
11g.118503312C>ACA382805501KMT2Ac.7519C>A (p.Pro2507Thr)
c.7510C>A (p.Pro2504Thr)
c.1459C>A (p.Pro487Thr)
c.1717C>A (p.Pro573Thr)
c.7492C>A (p.Pro2498Thr)
c.7411C>A (p.Pro2471Thr)
n.6762C>A
c.7420C>A (p.Pro2474Thr)
c.7297C>A (p.Pro2433Thr)
n.1547C>A
c.4903C>A (p.Pro1635Thr)
c.7516C>A (p.Pro2506Thr)
c.5326C>A (p.Pro1776Thr)
c.5002C>A (p.Pro1668Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.118503312C=CA2003527699KMT2Ac.7519C= (p.Pro2507=)
c.7510C= (p.Pro2504=)
c.1459C= (p.Pro487=)
c.1717C= (p.Pro573=)
c.7492C= (p.Pro2498=)
c.7411C= (p.Pro2471=)
n.6762C=
c.7420C= (p.Pro2474=)
c.7297C= (p.Pro2433=)
n.1547C=
c.4903C= (p.Pro1635=)
c.7516C= (p.Pro2506=)
c.5326C= (p.Pro1776=)
c.5002C= (p.Pro1668=)
11g.118503312C>GCA382805503KMT2Ac.7519C>G (p.Pro2507Ala)
c.7510C>G (p.Pro2504Ala)
c.1459C>G (p.Pro487Ala)
c.1717C>G (p.Pro573Ala)
c.7492C>G (p.Pro2498Ala)
c.7411C>G (p.Pro2471Ala)
n.6762C>G
c.7420C>G (p.Pro2474Ala)
c.7297C>G (p.Pro2433Ala)
n.1547C>G
c.4903C>G (p.Pro1635Ala)
c.7516C>G (p.Pro2506Ala)
c.5326C>G (p.Pro1776Ala)
c.5002C>G (p.Pro1668Ala)
 dbSNP
11g.118503312C>TCA382805505KMT2Ac.7519C>T (p.Pro2507Ser)
c.7510C>T (p.Pro2504Ser)
c.1459C>T (p.Pro487Ser)
c.1717C>T (p.Pro573Ser)
c.7492C>T (p.Pro2498Ser)
c.7411C>T (p.Pro2471Ser)
n.6762C>T
c.7420C>T (p.Pro2474Ser)
c.7297C>T (p.Pro2433Ser)
n.1547C>T
c.4903C>T (p.Pro1635Ser)
c.7516C>T (p.Pro2506Ser)
c.5326C>T (p.Pro1776Ser)
c.5002C>T (p.Pro1668Ser)
 dbSNP COSMIC COSMIC
11g.118503313C>ACA382805507KMT2Ac.7520C>A (p.Pro2507His)
c.7511C>A (p.Pro2504His)
c.1460C>A (p.Pro487His)
c.1718C>A (p.Pro573His)
c.7493C>A (p.Pro2498His)
c.7412C>A (p.Pro2471His)
n.6763C>A
c.7421C>A (p.Pro2474His)
c.7298C>A (p.Pro2433His)
n.1548C>A
c.4904C>A (p.Pro1635His)
c.7517C>A (p.Pro2506His)
c.5327C>A (p.Pro1776His)
c.5003C>A (p.Pro1668His)
11g.118503313C>GCA382805509KMT2Ac.7520C>G (p.Pro2507Arg)
c.7511C>G (p.Pro2504Arg)
c.1460C>G (p.Pro487Arg)
c.1718C>G (p.Pro573Arg)
c.7493C>G (p.Pro2498Arg)
c.7412C>G (p.Pro2471Arg)
n.6763C>G
c.7421C>G (p.Pro2474Arg)
c.7298C>G (p.Pro2433Arg)
n.1548C>G
c.4904C>G (p.Pro1635Arg)
c.7517C>G (p.Pro2506Arg)
c.5327C>G (p.Pro1776Arg)
c.5003C>G (p.Pro1668Arg)
11g.118503313C>TCA382805510KMT2Ac.7520C>T (p.Pro2507Leu)
c.7511C>T (p.Pro2504Leu)
c.1460C>T (p.Pro487Leu)
c.1718C>T (p.Pro573Leu)
c.7493C>T (p.Pro2498Leu)
c.7412C>T (p.Pro2471Leu)
n.6763C>T
c.7421C>T (p.Pro2474Leu)
c.7298C>T (p.Pro2433Leu)
n.1548C>T
c.4904C>T (p.Pro1635Leu)
c.7517C>T (p.Pro2506Leu)
c.5327C>T (p.Pro1776Leu)
c.5003C>T (p.Pro1668Leu)
11g.118503314T>ACA477359422KMT2Ac.7521T>A (p.Pro2507=)
c.7512T>A (p.Pro2504=)
c.1461T>A (p.Pro487=)
c.1719T>A (p.Pro573=)
c.7494T>A (p.Pro2498=)
c.7413T>A (p.Pro2471=)
n.6764T>A
c.7422T>A (p.Pro2474=)
c.7299T>A (p.Pro2433=)
n.1549T>A
c.4905T>A (p.Pro1635=)
c.7518T>A (p.Pro2506=)
c.5328T>A (p.Pro1776=)
c.5004T>A (p.Pro1668=)
11g.118503314T>CCA477359423KMT2Ac.7521T>C (p.Pro2507=)
c.7512T>C (p.Pro2504=)
c.1461T>C (p.Pro487=)
c.1719T>C (p.Pro573=)
c.7494T>C (p.Pro2498=)
c.7413T>C (p.Pro2471=)
n.6764T>C
c.7422T>C (p.Pro2474=)
c.7299T>C (p.Pro2433=)
n.1549T>C
c.4905T>C (p.Pro1635=)
c.7518T>C (p.Pro2506=)
c.5328T>C (p.Pro1776=)
c.5004T>C (p.Pro1668=)
 dbSNP gnomAD v4
11g.118503314T>GCA477359424KMT2Ac.7521T>G (p.Pro2507=)
c.7512T>G (p.Pro2504=)
c.1461T>G (p.Pro487=)
c.1719T>G (p.Pro573=)
c.7494T>G (p.Pro2498=)
c.7413T>G (p.Pro2471=)
n.6764T>G
c.7422T>G (p.Pro2474=)
c.7299T>G (p.Pro2433=)
n.1549T>G
c.4905T>G (p.Pro1635=)
c.7518T>G (p.Pro2506=)
c.5328T>G (p.Pro1776=)
c.5004T>G (p.Pro1668=)
11g.118503314T=CA2003527701KMT2Ac.7521T= (p.Pro2507=)
c.7512T= (p.Pro2504=)
c.1461T= (p.Pro487=)
c.1719T= (p.Pro573=)
c.7494T= (p.Pro2498=)
c.7413T= (p.Pro2471=)
n.6764T=
c.7422T= (p.Pro2474=)
c.7299T= (p.Pro2433=)
n.1549T=
c.4905T= (p.Pro1635=)
c.7518T= (p.Pro2506=)
c.5328T= (p.Pro1776=)
c.5004T= (p.Pro1668=)
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)

Number of alleles fetched