Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503144A=CA2003527457KMT2Ac.7351A= (p.Asn2451=)
c.7342A= (p.Asn2448=)
c.1291A= (p.Asn431=)
c.1549A= (p.Asn517=)
c.7324A= (p.Asn2442=)
c.7243A= (p.Asn2415=)
n.6594A=
c.7252A= (p.Asn2418=)
c.7129A= (p.Asn2377=)
n.1379A=
c.4735A= (p.Asn1579=)
c.7348A= (p.Asn2450=)
c.5158A= (p.Asn1720=)
c.4834A= (p.Asn1612=)
11g.118503144A>CCA382804850KMT2Ac.7351A>C (p.Asn2451His)
c.7342A>C (p.Asn2448His)
c.1291A>C (p.Asn431His)
c.1549A>C (p.Asn517His)
c.7324A>C (p.Asn2442His)
c.7243A>C (p.Asn2415His)
n.6594A>C
c.7252A>C (p.Asn2418His)
c.7129A>C (p.Asn2377His)
n.1379A>C
c.4735A>C (p.Asn1579His)
c.7348A>C (p.Asn2450His)
c.5158A>C (p.Asn1720His)
c.4834A>C (p.Asn1612His)
11g.118503144A>GCA6304378KMT2Ac.7351A>G (p.Asn2451Asp)
c.7342A>G (p.Asn2448Asp)
c.1291A>G (p.Asn431Asp)
c.1549A>G (p.Asn517Asp)
c.7324A>G (p.Asn2442Asp)
c.7243A>G (p.Asn2415Asp)
n.6594A>G
c.7252A>G (p.Asn2418Asp)
c.7129A>G (p.Asn2377Asp)
n.1379A>G
c.4735A>G (p.Asn1579Asp)
c.7348A>G (p.Asn2450Asp)
c.5158A>G (p.Asn1720Asp)
c.4834A>G (p.Asn1612Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503144A>TCA382804851KMT2Ac.7351A>T (p.Asn2451Tyr)
c.7342A>T (p.Asn2448Tyr)
c.1291A>T (p.Asn431Tyr)
c.1549A>T (p.Asn517Tyr)
c.7324A>T (p.Asn2442Tyr)
c.7243A>T (p.Asn2415Tyr)
n.6594A>T
c.7252A>T (p.Asn2418Tyr)
c.7129A>T (p.Asn2377Tyr)
n.1379A>T
c.4735A>T (p.Asn1579Tyr)
c.7348A>T (p.Asn2450Tyr)
c.5158A>T (p.Asn1720Tyr)
c.4834A>T (p.Asn1612Tyr)
 dbSNP
11g.118503145A=CA2003527462KMT2Ac.7352A= (p.Asn2451=)
c.7343A= (p.Asn2448=)
c.1292A= (p.Asn431=)
c.1550A= (p.Asn517=)
c.7325A= (p.Asn2442=)
c.7244A= (p.Asn2415=)
n.6595A=
c.7253A= (p.Asn2418=)
c.7130A= (p.Asn2377=)
n.1380A=
c.4736A= (p.Asn1579=)
c.7349A= (p.Asn2450=)
c.5159A= (p.Asn1720=)
c.4835A= (p.Asn1612=)
11g.118503145A>CCA382804852KMT2Ac.7352A>C (p.Asn2451Thr)
c.7343A>C (p.Asn2448Thr)
c.1292A>C (p.Asn431Thr)
c.1550A>C (p.Asn517Thr)
c.7325A>C (p.Asn2442Thr)
c.7244A>C (p.Asn2415Thr)
n.6595A>C
c.7253A>C (p.Asn2418Thr)
c.7130A>C (p.Asn2377Thr)
n.1380A>C
c.4736A>C (p.Asn1579Thr)
c.7349A>C (p.Asn2450Thr)
c.5159A>C (p.Asn1720Thr)
c.4835A>C (p.Asn1612Thr)
11g.118503145A>GCA382804853KMT2Ac.7352A>G (p.Asn2451Ser)
c.7343A>G (p.Asn2448Ser)
c.1292A>G (p.Asn431Ser)
c.1550A>G (p.Asn517Ser)
c.7325A>G (p.Asn2442Ser)
c.7244A>G (p.Asn2415Ser)
n.6595A>G
c.7253A>G (p.Asn2418Ser)
c.7130A>G (p.Asn2377Ser)
n.1380A>G
c.4736A>G (p.Asn1579Ser)
c.7349A>G (p.Asn2450Ser)
c.5159A>G (p.Asn1720Ser)
c.4835A>G (p.Asn1612Ser)
 dbSNP gnomAD v4
11g.118503145A>TCA382804854KMT2Ac.7352A>T (p.Asn2451Ile)
c.7343A>T (p.Asn2448Ile)
c.1292A>T (p.Asn431Ile)
c.1550A>T (p.Asn517Ile)
c.7325A>T (p.Asn2442Ile)
c.7244A>T (p.Asn2415Ile)
n.6595A>T
c.7253A>T (p.Asn2418Ile)
c.7130A>T (p.Asn2377Ile)
n.1380A>T
c.4736A>T (p.Asn1579Ile)
c.7349A>T (p.Asn2450Ile)
c.5159A>T (p.Asn1720Ile)
c.4835A>T (p.Asn1612Ile)
11g.118503146C>ACA382804855KMT2Ac.7353C>A (p.Asn2451Lys)
c.7344C>A (p.Asn2448Lys)
c.1293C>A (p.Asn431Lys)
c.1551C>A (p.Asn517Lys)
c.7326C>A (p.Asn2442Lys)
c.7245C>A (p.Asn2415Lys)
n.6596C>A
c.7254C>A (p.Asn2418Lys)
c.7131C>A (p.Asn2377Lys)
n.1381C>A
c.4737C>A (p.Asn1579Lys)
c.7350C>A (p.Asn2450Lys)
c.5160C>A (p.Asn1720Lys)
c.4836C>A (p.Asn1612Lys)
 dbSNP
11g.118503146C=CA2003527472KMT2Ac.7353C= (p.Asn2451=)
c.7344C= (p.Asn2448=)
c.1293C= (p.Asn431=)
c.1551C= (p.Asn517=)
c.7326C= (p.Asn2442=)
c.7245C= (p.Asn2415=)
n.6596C=
c.7254C= (p.Asn2418=)
c.7131C= (p.Asn2377=)
n.1381C=
c.4737C= (p.Asn1579=)
c.7350C= (p.Asn2450=)
c.5160C= (p.Asn1720=)
c.4836C= (p.Asn1612=)
11g.118503146C>GCA382804856KMT2Ac.7353C>G (p.Asn2451Lys)
c.7344C>G (p.Asn2448Lys)
c.1293C>G (p.Asn431Lys)
c.1551C>G (p.Asn517Lys)
c.7326C>G (p.Asn2442Lys)
c.7245C>G (p.Asn2415Lys)
n.6596C>G
c.7254C>G (p.Asn2418Lys)
c.7131C>G (p.Asn2377Lys)
n.1381C>G
c.4737C>G (p.Asn1579Lys)
c.7350C>G (p.Asn2450Lys)
c.5160C>G (p.Asn1720Lys)
c.4836C>G (p.Asn1612Lys)
 dbSNP
11g.118503146C>TCA172394KMT2Ac.7353C>T (p.Asn2451=)
c.7344C>T (p.Asn2448=)
c.1293C>T (p.Asn431=)
c.1551C>T (p.Asn517=)
c.7326C>T (p.Asn2442=)
c.7245C>T (p.Asn2415=)
n.6596C>T
c.7254C>T (p.Asn2418=)
c.7131C>T (p.Asn2377=)
n.1381C>T
c.4737C>T (p.Asn1579=)
c.7350C>T (p.Asn2450=)
c.5160C>T (p.Asn1720=)
c.4836C>T (p.Asn1612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503147G>ACA6304379KMT2Ac.7354G>A (p.Glu2452Lys)
c.7345G>A (p.Glu2449Lys)
c.1294G>A (p.Glu432Lys)
c.1552G>A (p.Glu518Lys)
c.7327G>A (p.Glu2443Lys)
c.7246G>A (p.Glu2416Lys)
n.6597G>A
c.7255G>A (p.Glu2419Lys)
c.7132G>A (p.Glu2378Lys)
n.1382G>A
c.4738G>A (p.Glu1580Lys)
c.7351G>A (p.Glu2451Lys)
c.5161G>A (p.Glu1721Lys)
c.4837G>A (p.Glu1613Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503147G>CCA382804857KMT2Ac.7354G>C (p.Glu2452Gln)
c.7345G>C (p.Glu2449Gln)
c.1294G>C (p.Glu432Gln)
c.1552G>C (p.Glu518Gln)
c.7327G>C (p.Glu2443Gln)
c.7246G>C (p.Glu2416Gln)
n.6597G>C
c.7255G>C (p.Glu2419Gln)
c.7132G>C (p.Glu2378Gln)
n.1382G>C
c.4738G>C (p.Glu1580Gln)
c.7351G>C (p.Glu2451Gln)
c.5161G>C (p.Glu1721Gln)
c.4837G>C (p.Glu1613Gln)
 dbSNP
11g.118503147G=CA2003527479KMT2Ac.7354G= (p.Glu2452=)
c.7345G= (p.Glu2449=)
c.1294G= (p.Glu432=)
c.1552G= (p.Glu518=)
c.7327G= (p.Glu2443=)
c.7246G= (p.Glu2416=)
n.6597G=
c.7255G= (p.Glu2419=)
c.7132G= (p.Glu2378=)
n.1382G=
c.4738G= (p.Glu1580=)
c.7351G= (p.Glu2451=)
c.5161G= (p.Glu1721=)
c.4837G= (p.Glu1613=)
11g.118503147G>TCA382804858KMT2Ac.7354G>T (p.Glu2452Ter)
c.7345G>T (p.Glu2449Ter)
c.1294G>T (p.Glu432Ter)
c.1552G>T (p.Glu518Ter)
c.7327G>T (p.Glu2443Ter)
c.7246G>T (p.Glu2416Ter)
n.6597G>T
c.7255G>T (p.Glu2419Ter)
c.7132G>T (p.Glu2378Ter)
n.1382G>T
c.4738G>T (p.Glu1580Ter)
c.7351G>T (p.Glu2451Ter)
c.5161G>T (p.Glu1721Ter)
c.4837G>T (p.Glu1613Ter)
11g.118503148A>CCA382804859KMT2Ac.7355A>C (p.Glu2452Ala)
c.7346A>C (p.Glu2449Ala)
c.1295A>C (p.Glu432Ala)
c.1553A>C (p.Glu518Ala)
c.7328A>C (p.Glu2443Ala)
c.7247A>C (p.Glu2416Ala)
n.6598A>C
c.7256A>C (p.Glu2419Ala)
c.7133A>C (p.Glu2378Ala)
n.1383A>C
c.4739A>C (p.Glu1580Ala)
c.7352A>C (p.Glu2451Ala)
c.5162A>C (p.Glu1721Ala)
c.4838A>C (p.Glu1613Ala)
11g.118503148A>GCA382804860KMT2Ac.7355A>G (p.Glu2452Gly)
c.7346A>G (p.Glu2449Gly)
c.1295A>G (p.Glu432Gly)
c.1553A>G (p.Glu518Gly)
c.7328A>G (p.Glu2443Gly)
c.7247A>G (p.Glu2416Gly)
n.6598A>G
c.7256A>G (p.Glu2419Gly)
c.7133A>G (p.Glu2378Gly)
n.1383A>G
c.4739A>G (p.Glu1580Gly)
c.7352A>G (p.Glu2451Gly)
c.5162A>G (p.Glu1721Gly)
c.4838A>G (p.Glu1613Gly)
11g.118503148A>TCA382804861KMT2Ac.7355A>T (p.Glu2452Val)
c.7346A>T (p.Glu2449Val)
c.1295A>T (p.Glu432Val)
c.1553A>T (p.Glu518Val)
c.7328A>T (p.Glu2443Val)
c.7247A>T (p.Glu2416Val)
n.6598A>T
c.7256A>T (p.Glu2419Val)
c.7133A>T (p.Glu2378Val)
n.1383A>T
c.4739A>T (p.Glu1580Val)
c.7352A>T (p.Glu2451Val)
c.5162A>T (p.Glu1721Val)
c.4838A>T (p.Glu1613Val)
 dbSNP
11g.118503149A>CCA382804863KMT2Ac.7356A>C (p.Glu2452Asp)
c.7347A>C (p.Glu2449Asp)
c.1296A>C (p.Glu432Asp)
c.1554A>C (p.Glu518Asp)
c.7329A>C (p.Glu2443Asp)
c.7248A>C (p.Glu2416Asp)
n.6599A>C
c.7257A>C (p.Glu2419Asp)
c.7134A>C (p.Glu2378Asp)
n.1384A>C
c.4740A>C (p.Glu1580Asp)
c.7353A>C (p.Glu2451Asp)
c.5163A>C (p.Glu1721Asp)
c.4839A>C (p.Glu1613Asp)
11g.118503149A>GCA477359244KMT2Ac.7356A>G (p.Glu2452=)
c.7347A>G (p.Glu2449=)
c.1296A>G (p.Glu432=)
c.1554A>G (p.Glu518=)
c.7329A>G (p.Glu2443=)
c.7248A>G (p.Glu2416=)
n.6599A>G
c.7257A>G (p.Glu2419=)
c.7134A>G (p.Glu2378=)
n.1384A>G
c.4740A>G (p.Glu1580=)
c.7353A>G (p.Glu2451=)
c.5163A>G (p.Glu1721=)
c.4839A>G (p.Glu1613=)
 COSMIC COSMIC
11g.118503149A>TCA382804862KMT2Ac.7356A>T (p.Glu2452Asp)
c.7347A>T (p.Glu2449Asp)
c.1296A>T (p.Glu432Asp)
c.1554A>T (p.Glu518Asp)
c.7329A>T (p.Glu2443Asp)
c.7248A>T (p.Glu2416Asp)
n.6599A>T
c.7257A>T (p.Glu2419Asp)
c.7134A>T (p.Glu2378Asp)
n.1384A>T
c.4740A>T (p.Glu1580Asp)
c.7353A>T (p.Glu2451Asp)
c.5163A>T (p.Glu1721Asp)
c.4839A>T (p.Glu1613Asp)
 dbSNP
11g.118503150C>ACA382804864KMT2Ac.7357C>A (p.His2453Asn)
c.7348C>A (p.His2450Asn)
c.1297C>A (p.His433Asn)
c.1555C>A (p.His519Asn)
c.7330C>A (p.His2444Asn)
c.7249C>A (p.His2417Asn)
n.6600C>A
c.7258C>A (p.His2420Asn)
c.7135C>A (p.His2379Asn)
n.1385C>A
c.4741C>A (p.His1581Asn)
c.7354C>A (p.His2452Asn)
c.5164C>A (p.His1722Asn)
c.4840C>A (p.His1614Asn)
11g.118503150C>GCA382804866KMT2Ac.7357C>G (p.His2453Asp)
c.7348C>G (p.His2450Asp)
c.1297C>G (p.His433Asp)
c.1555C>G (p.His519Asp)
c.7330C>G (p.His2444Asp)
c.7249C>G (p.His2417Asp)
n.6600C>G
c.7258C>G (p.His2420Asp)
c.7135C>G (p.His2379Asp)
n.1385C>G
c.4741C>G (p.His1581Asp)
c.7354C>G (p.His2452Asp)
c.5164C>G (p.His1722Asp)
c.4840C>G (p.His1614Asp)
 dbSNP
11g.118503150C>TCA382804865KMT2Ac.7357C>T (p.His2453Tyr)
c.7348C>T (p.His2450Tyr)
c.1297C>T (p.His433Tyr)
c.1555C>T (p.His519Tyr)
c.7330C>T (p.His2444Tyr)
c.7249C>T (p.His2417Tyr)
n.6600C>T
c.7258C>T (p.His2420Tyr)
c.7135C>T (p.His2379Tyr)
n.1385C>T
c.4741C>T (p.His1581Tyr)
c.7354C>T (p.His2452Tyr)
c.5164C>T (p.His1722Tyr)
c.4840C>T (p.His1614Tyr)
 dbSNP gnomAD v4
11g.118503151A=CA2003527483KMT2Ac.7358A= (p.His2453=)
c.7349A= (p.His2450=)
c.1298A= (p.His433=)
c.1556A= (p.His519=)
c.7331A= (p.His2444=)
c.7250A= (p.His2417=)
n.6601A=
c.7259A= (p.His2420=)
c.7136A= (p.His2379=)
n.1386A=
c.4742A= (p.His1581=)
c.7355A= (p.His2452=)
c.5165A= (p.His1722=)
c.4841A= (p.His1614=)
11g.118503151A>CCA382804867KMT2Ac.7358A>C (p.His2453Pro)
c.7349A>C (p.His2450Pro)
c.1298A>C (p.His433Pro)
c.1556A>C (p.His519Pro)
c.7331A>C (p.His2444Pro)
c.7250A>C (p.His2417Pro)
n.6601A>C
c.7259A>C (p.His2420Pro)
c.7136A>C (p.His2379Pro)
n.1386A>C
c.4742A>C (p.His1581Pro)
c.7355A>C (p.His2452Pro)
c.5165A>C (p.His1722Pro)
c.4841A>C (p.His1614Pro)
11g.118503151A>GCA382804869KMT2Ac.7358A>G (p.His2453Arg)
c.7349A>G (p.His2450Arg)
c.1298A>G (p.His433Arg)
c.1556A>G (p.His519Arg)
c.7331A>G (p.His2444Arg)
c.7250A>G (p.His2417Arg)
n.6601A>G
c.7259A>G (p.His2420Arg)
c.7136A>G (p.His2379Arg)
n.1386A>G
c.4742A>G (p.His1581Arg)
c.7355A>G (p.His2452Arg)
c.5165A>G (p.His1722Arg)
c.4841A>G (p.His1614Arg)
 gnomAD v4
11g.118503151A>TCA382804868KMT2Ac.7358A>T (p.His2453Leu)
c.7349A>T (p.His2450Leu)
c.1298A>T (p.His433Leu)
c.1556A>T (p.His519Leu)
c.7331A>T (p.His2444Leu)
c.7250A>T (p.His2417Leu)
n.6601A>T
c.7259A>T (p.His2420Leu)
c.7136A>T (p.His2379Leu)
n.1386A>T
c.4742A>T (p.His1581Leu)
c.7355A>T (p.His2452Leu)
c.5165A>T (p.His1722Leu)
c.4841A>T (p.His1614Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.118503152T>ACA382804870KMT2Ac.7359T>A (p.His2453Gln)
c.7350T>A (p.His2450Gln)
c.1299T>A (p.His433Gln)
c.1557T>A (p.His519Gln)
c.7332T>A (p.His2444Gln)
c.7251T>A (p.His2417Gln)
n.6602T>A
c.7260T>A (p.His2420Gln)
c.7137T>A (p.His2379Gln)
n.1387T>A
c.4743T>A (p.His1581Gln)
c.7356T>A (p.His2452Gln)
c.5166T>A (p.His1722Gln)
c.4842T>A (p.His1614Gln)
 dbSNP
11g.118503152T>CCA477359248KMT2Ac.7359T>C (p.His2453=)
c.7350T>C (p.His2450=)
c.1299T>C (p.His433=)
c.1557T>C (p.His519=)
c.7332T>C (p.His2444=)
c.7251T>C (p.His2417=)
n.6602T>C
c.7260T>C (p.His2420=)
c.7137T>C (p.His2379=)
n.1387T>C
c.4743T>C (p.His1581=)
c.7356T>C (p.His2452=)
c.5166T>C (p.His1722=)
c.4842T>C (p.His1614=)
11g.118503152T>GCA382804871KMT2Ac.7359T>G (p.His2453Gln)
c.7350T>G (p.His2450Gln)
c.1299T>G (p.His433Gln)
c.1557T>G (p.His519Gln)
c.7332T>G (p.His2444Gln)
c.7251T>G (p.His2417Gln)
n.6602T>G
c.7260T>G (p.His2420Gln)
c.7137T>G (p.His2379Gln)
n.1387T>G
c.4743T>G (p.His1581Gln)
c.7356T>G (p.His2452Gln)
c.5166T>G (p.His1722Gln)
c.4842T>G (p.His1614Gln)
11g.118503153A>CCA382804872KMT2Ac.7360A>C (p.Met2454Leu)
c.7351A>C (p.Met2451Leu)
c.1300A>C (p.Met434Leu)
c.1558A>C (p.Met520Leu)
c.7333A>C (p.Met2445Leu)
c.7252A>C (p.Met2418Leu)
n.6603A>C
c.7261A>C (p.Met2421Leu)
c.7138A>C (p.Met2380Leu)
n.1388A>C
c.4744A>C (p.Met1582Leu)
c.7357A>C (p.Met2453Leu)
c.5167A>C (p.Met1723Leu)
c.4843A>C (p.Met1615Leu)
11g.118503153A>GCA382804873KMT2Ac.7360A>G (p.Met2454Val)
c.7351A>G (p.Met2451Val)
c.1300A>G (p.Met434Val)
c.1558A>G (p.Met520Val)
c.7333A>G (p.Met2445Val)
c.7252A>G (p.Met2418Val)
n.6603A>G
c.7261A>G (p.Met2421Val)
c.7138A>G (p.Met2380Val)
n.1388A>G
c.4744A>G (p.Met1582Val)
c.7357A>G (p.Met2453Val)
c.5167A>G (p.Met1723Val)
c.4843A>G (p.Met1615Val)
11g.118503153A>TCA382804874KMT2Ac.7360A>T (p.Met2454Leu)
c.7351A>T (p.Met2451Leu)
c.1300A>T (p.Met434Leu)
c.1558A>T (p.Met520Leu)
c.7333A>T (p.Met2445Leu)
c.7252A>T (p.Met2418Leu)
n.6603A>T
c.7261A>T (p.Met2421Leu)
c.7138A>T (p.Met2380Leu)
n.1388A>T
c.4744A>T (p.Met1582Leu)
c.7357A>T (p.Met2453Leu)
c.5167A>T (p.Met1723Leu)
c.4843A>T (p.Met1615Leu)
11g.118503154T>ACA382804875KMT2Ac.7361T>A (p.Met2454Lys)
c.7352T>A (p.Met2451Lys)
c.1301T>A (p.Met434Lys)
c.1559T>A (p.Met520Lys)
c.7334T>A (p.Met2445Lys)
c.7253T>A (p.Met2418Lys)
n.6604T>A
c.7262T>A (p.Met2421Lys)
c.7139T>A (p.Met2380Lys)
n.1389T>A
c.4745T>A (p.Met1582Lys)
c.7358T>A (p.Met2453Lys)
c.5168T>A (p.Met1723Lys)
c.4844T>A (p.Met1615Lys)
 dbSNP gnomAD v4
11g.118503154T>CCA382804876KMT2Ac.7361T>C (p.Met2454Thr)
c.7352T>C (p.Met2451Thr)
c.1301T>C (p.Met434Thr)
c.1559T>C (p.Met520Thr)
c.7334T>C (p.Met2445Thr)
c.7253T>C (p.Met2418Thr)
n.6604T>C
c.7262T>C (p.Met2421Thr)
c.7139T>C (p.Met2380Thr)
n.1389T>C
c.4745T>C (p.Met1582Thr)
c.7358T>C (p.Met2453Thr)
c.5168T>C (p.Met1723Thr)
c.4844T>C (p.Met1615Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.118503154T>GCA382804877KMT2Ac.7361T>G (p.Met2454Arg)
c.7352T>G (p.Met2451Arg)
c.1301T>G (p.Met434Arg)
c.1559T>G (p.Met520Arg)
c.7334T>G (p.Met2445Arg)
c.7253T>G (p.Met2418Arg)
n.6604T>G
c.7262T>G (p.Met2421Arg)
c.7139T>G (p.Met2380Arg)
n.1389T>G
c.4745T>G (p.Met1582Arg)
c.7358T>G (p.Met2453Arg)
c.5168T>G (p.Met1723Arg)
c.4844T>G (p.Met1615Arg)
11g.118503154T=CA2003527489KMT2Ac.7361T= (p.Met2454=)
c.7352T= (p.Met2451=)
c.1301T= (p.Met434=)
c.1559T= (p.Met520=)
c.7334T= (p.Met2445=)
c.7253T= (p.Met2418=)
n.6604T=
c.7262T= (p.Met2421=)
c.7139T= (p.Met2380=)
n.1389T=
c.4745T= (p.Met1582=)
c.7358T= (p.Met2453=)
c.5168T= (p.Met1723=)
c.4844T= (p.Met1615=)
11g.118503155G>ACA382804879KMT2Ac.7362G>A (p.Met2454Ile)
c.7353G>A (p.Met2451Ile)
c.1302G>A (p.Met434Ile)
c.1560G>A (p.Met520Ile)
c.7335G>A (p.Met2445Ile)
c.7254G>A (p.Met2418Ile)
n.6605G>A
c.7263G>A (p.Met2421Ile)
c.7140G>A (p.Met2380Ile)
n.1390G>A
c.4746G>A (p.Met1582Ile)
c.7359G>A (p.Met2453Ile)
c.5169G>A (p.Met1723Ile)
c.4845G>A (p.Met1615Ile)
 dbSNP
11g.118503155G>CCA382804880KMT2Ac.7362G>C (p.Met2454Ile)
c.7353G>C (p.Met2451Ile)
c.1302G>C (p.Met434Ile)
c.1560G>C (p.Met520Ile)
c.7335G>C (p.Met2445Ile)
c.7254G>C (p.Met2418Ile)
n.6605G>C
c.7263G>C (p.Met2421Ile)
c.7140G>C (p.Met2380Ile)
n.1390G>C
c.4746G>C (p.Met1582Ile)
c.7359G>C (p.Met2453Ile)
c.5169G>C (p.Met1723Ile)
c.4845G>C (p.Met1615Ile)
11g.118503155G>TCA382804882KMT2Ac.7362G>T (p.Met2454Ile)
c.7353G>T (p.Met2451Ile)
c.1302G>T (p.Met434Ile)
c.1560G>T (p.Met520Ile)
c.7335G>T (p.Met2445Ile)
c.7254G>T (p.Met2418Ile)
n.6605G>T
c.7263G>T (p.Met2421Ile)
c.7140G>T (p.Met2380Ile)
n.1390G>T
c.4746G>T (p.Met1582Ile)
c.7359G>T (p.Met2453Ile)
c.5169G>T (p.Met1723Ile)
c.4845G>T (p.Met1615Ile)
 gnomAD v4
11g.118503156G>ACA6304380KMT2Ac.7363G>A (p.Gly2455Arg)
c.7354G>A (p.Gly2452Arg)
c.1303G>A (p.Gly435Arg)
c.1561G>A (p.Gly521Arg)
c.7336G>A (p.Gly2446Arg)
c.7255G>A (p.Gly2419Arg)
n.6606G>A
c.7264G>A (p.Gly2422Arg)
c.7141G>A (p.Gly2381Arg)
n.1391G>A
c.4747G>A (p.Gly1583Arg)
c.7360G>A (p.Gly2454Arg)
c.5170G>A (p.Gly1724Arg)
c.4846G>A (p.Gly1616Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503156G>CCA382804885KMT2Ac.7363G>C (p.Gly2455Arg)
c.7354G>C (p.Gly2452Arg)
c.1303G>C (p.Gly435Arg)
c.1561G>C (p.Gly521Arg)
c.7336G>C (p.Gly2446Arg)
c.7255G>C (p.Gly2419Arg)
n.6606G>C
c.7264G>C (p.Gly2422Arg)
c.7141G>C (p.Gly2381Arg)
n.1391G>C
c.4747G>C (p.Gly1583Arg)
c.7360G>C (p.Gly2454Arg)
c.5170G>C (p.Gly1724Arg)
c.4846G>C (p.Gly1616Arg)
 dbSNP
11g.118503156G=CA2003527492KMT2Ac.7363G= (p.Gly2455=)
c.7354G= (p.Gly2452=)
c.1303G= (p.Gly435=)
c.1561G= (p.Gly521=)
c.7336G= (p.Gly2446=)
c.7255G= (p.Gly2419=)
n.6606G=
c.7264G= (p.Gly2422=)
c.7141G= (p.Gly2381=)
n.1391G=
c.4747G= (p.Gly1583=)
c.7360G= (p.Gly2454=)
c.5170G= (p.Gly1724=)
c.4846G= (p.Gly1616=)
11g.118503156G>TCA382804884KMT2Ac.7363G>T (p.Gly2455Ter)
c.7354G>T (p.Gly2452Ter)
c.1303G>T (p.Gly435Ter)
c.1561G>T (p.Gly521Ter)
c.7336G>T (p.Gly2446Ter)
c.7255G>T (p.Gly2419Ter)
n.6606G>T
c.7264G>T (p.Gly2422Ter)
c.7141G>T (p.Gly2381Ter)
n.1391G>T
c.4747G>T (p.Gly1583Ter)
c.7360G>T (p.Gly2454Ter)
c.5170G>T (p.Gly1724Ter)
c.4846G>T (p.Gly1616Ter)
11g.118503157G>ACA382804887KMT2Ac.7364G>A (p.Gly2455Glu)
c.7355G>A (p.Gly2452Glu)
c.1304G>A (p.Gly435Glu)
c.1562G>A (p.Gly521Glu)
c.7337G>A (p.Gly2446Glu)
c.7256G>A (p.Gly2419Glu)
n.6607G>A
c.7265G>A (p.Gly2422Glu)
c.7142G>A (p.Gly2381Glu)
n.1392G>A
c.4748G>A (p.Gly1583Glu)
c.7361G>A (p.Gly2454Glu)
c.5171G>A (p.Gly1724Glu)
c.4847G>A (p.Gly1616Glu)
 dbSNP
11g.118503157G>CCA382804889KMT2Ac.7364G>C (p.Gly2455Ala)
c.7355G>C (p.Gly2452Ala)
c.1304G>C (p.Gly435Ala)
c.1562G>C (p.Gly521Ala)
c.7337G>C (p.Gly2446Ala)
c.7256G>C (p.Gly2419Ala)
n.6607G>C
c.7265G>C (p.Gly2422Ala)
c.7142G>C (p.Gly2381Ala)
n.1392G>C
c.4748G>C (p.Gly1583Ala)
c.7361G>C (p.Gly2454Ala)
c.5171G>C (p.Gly1724Ala)
c.4847G>C (p.Gly1616Ala)
 dbSNP
11g.118503157G>TCA382804890KMT2Ac.7364G>T (p.Gly2455Val)
c.7355G>T (p.Gly2452Val)
c.1304G>T (p.Gly435Val)
c.1562G>T (p.Gly521Val)
c.7337G>T (p.Gly2446Val)
c.7256G>T (p.Gly2419Val)
n.6607G>T
c.7265G>T (p.Gly2422Val)
c.7142G>T (p.Gly2381Val)
n.1392G>T
c.4748G>T (p.Gly1583Val)
c.7361G>T (p.Gly2454Val)
c.5171G>T (p.Gly1724Val)
c.4847G>T (p.Gly1616Val)
11g.118503158A=CA2003527497KMT2Ac.7365A= (p.Gly2455=)
c.7356A= (p.Gly2452=)
c.1305A= (p.Gly435=)
c.1563A= (p.Gly521=)
c.7338A= (p.Gly2446=)
c.7257A= (p.Gly2419=)
n.6608A=
c.7266A= (p.Gly2422=)
c.7143A= (p.Gly2381=)
n.1393A=
c.4749A= (p.Gly1583=)
c.7362A= (p.Gly2454=)
c.5172A= (p.Gly1724=)
c.4848A= (p.Gly1616=)
11g.118503158A>CCA477359255KMT2Ac.7365A>C (p.Gly2455=)
c.7356A>C (p.Gly2452=)
c.1305A>C (p.Gly435=)
c.1563A>C (p.Gly521=)
c.7338A>C (p.Gly2446=)
c.7257A>C (p.Gly2419=)
n.6608A>C
c.7266A>C (p.Gly2422=)
c.7143A>C (p.Gly2381=)
n.1393A>C
c.4749A>C (p.Gly1583=)
c.7362A>C (p.Gly2454=)
c.5172A>C (p.Gly1724=)
c.4848A>C (p.Gly1616=)
11g.118503158A>GCA477359256KMT2Ac.7365A>G (p.Gly2455=)
c.7356A>G (p.Gly2452=)
c.1305A>G (p.Gly435=)
c.1563A>G (p.Gly521=)
c.7338A>G (p.Gly2446=)
c.7257A>G (p.Gly2419=)
n.6608A>G
c.7266A>G (p.Gly2422=)
c.7143A>G (p.Gly2381=)
n.1393A>G
c.4749A>G (p.Gly1583=)
c.7362A>G (p.Gly2454=)
c.5172A>G (p.Gly1724=)
c.4848A>G (p.Gly1616=)
11g.118503158A>TCA477359257KMT2Ac.7365A>T (p.Gly2455=)
c.7356A>T (p.Gly2452=)
c.1305A>T (p.Gly435=)
c.1563A>T (p.Gly521=)
c.7338A>T (p.Gly2446=)
c.7257A>T (p.Gly2419=)
n.6608A>T
c.7266A>T (p.Gly2422=)
c.7143A>T (p.Gly2381=)
n.1393A>T
c.4749A>T (p.Gly1583=)
c.7362A>T (p.Gly2454=)
c.5172A>T (p.Gly1724=)
c.4848A>T (p.Gly1616=)
 dbSNP
11g.118503159T>ACA382804892KMT2Ac.7366T>A (p.Ser2456Thr)
c.7357T>A (p.Ser2453Thr)
c.1306T>A (p.Ser436Thr)
c.1564T>A (p.Ser522Thr)
c.7339T>A (p.Ser2447Thr)
c.7258T>A (p.Ser2420Thr)
n.6609T>A
c.7267T>A (p.Ser2423Thr)
c.7144T>A (p.Ser2382Thr)
n.1394T>A
c.4750T>A (p.Ser1584Thr)
c.7363T>A (p.Ser2455Thr)
c.5173T>A (p.Ser1725Thr)
c.4849T>A (p.Ser1617Thr)
 ClinVar
11g.118503159T>CCA382804893KMT2Ac.7366T>C (p.Ser2456Pro)
c.7357T>C (p.Ser2453Pro)
c.1306T>C (p.Ser436Pro)
c.1564T>C (p.Ser522Pro)
c.7339T>C (p.Ser2447Pro)
c.7258T>C (p.Ser2420Pro)
n.6609T>C
c.7267T>C (p.Ser2423Pro)
c.7144T>C (p.Ser2382Pro)
n.1394T>C
c.4750T>C (p.Ser1584Pro)
c.7363T>C (p.Ser2455Pro)
c.5173T>C (p.Ser1725Pro)
c.4849T>C (p.Ser1617Pro)
11g.118503159T>GCA382804895KMT2Ac.7366T>G (p.Ser2456Ala)
c.7357T>G (p.Ser2453Ala)
c.1306T>G (p.Ser436Ala)
c.1564T>G (p.Ser522Ala)
c.7339T>G (p.Ser2447Ala)
c.7258T>G (p.Ser2420Ala)
n.6609T>G
c.7267T>G (p.Ser2423Ala)
c.7144T>G (p.Ser2382Ala)
n.1394T>G
c.4750T>G (p.Ser1584Ala)
c.7363T>G (p.Ser2455Ala)
c.5173T>G (p.Ser1725Ala)
c.4849T>G (p.Ser1617Ala)
11g.118503160C>ACA382804897KMT2Ac.7367C>A (p.Ser2456Tyr)
c.7358C>A (p.Ser2453Tyr)
c.1307C>A (p.Ser436Tyr)
c.1565C>A (p.Ser522Tyr)
c.7340C>A (p.Ser2447Tyr)
c.7259C>A (p.Ser2420Tyr)
n.6610C>A
c.7268C>A (p.Ser2423Tyr)
c.7145C>A (p.Ser2382Tyr)
n.1395C>A
c.4751C>A (p.Ser1584Tyr)
c.7364C>A (p.Ser2455Tyr)
c.5174C>A (p.Ser1725Tyr)
c.4850C>A (p.Ser1617Tyr)
 gnomAD v4
11g.118503160C>GCA382804899KMT2Ac.7367C>G (p.Ser2456Cys)
c.7358C>G (p.Ser2453Cys)
c.1307C>G (p.Ser436Cys)
c.1565C>G (p.Ser522Cys)
c.7340C>G (p.Ser2447Cys)
c.7259C>G (p.Ser2420Cys)
n.6610C>G
c.7268C>G (p.Ser2423Cys)
c.7145C>G (p.Ser2382Cys)
n.1395C>G
c.4751C>G (p.Ser1584Cys)
c.7364C>G (p.Ser2455Cys)
c.5174C>G (p.Ser1725Cys)
c.4850C>G (p.Ser1617Cys)
 dbSNP
11g.118503160C>TCA382804900KMT2Ac.7367C>T (p.Ser2456Phe)
c.7358C>T (p.Ser2453Phe)
c.1307C>T (p.Ser436Phe)
c.1565C>T (p.Ser522Phe)
c.7340C>T (p.Ser2447Phe)
c.7259C>T (p.Ser2420Phe)
n.6610C>T
c.7268C>T (p.Ser2423Phe)
c.7145C>T (p.Ser2382Phe)
n.1395C>T
c.4751C>T (p.Ser1584Phe)
c.7364C>T (p.Ser2455Phe)
c.5174C>T (p.Ser1725Phe)
c.4850C>T (p.Ser1617Phe)
 dbSNP
11g.118503161T>ACA477359259KMT2Ac.7368T>A (p.Ser2456=)
c.7359T>A (p.Ser2453=)
c.1308T>A (p.Ser436=)
c.1566T>A (p.Ser522=)
c.7341T>A (p.Ser2447=)
c.7260T>A (p.Ser2420=)
n.6611T>A
c.7269T>A (p.Ser2423=)
c.7146T>A (p.Ser2382=)
n.1396T>A
c.4752T>A (p.Ser1584=)
c.7365T>A (p.Ser2455=)
c.5175T>A (p.Ser1725=)
c.4851T>A (p.Ser1617=)
 dbSNP
11g.118503161T>CCA477359260KMT2Ac.7368T>C (p.Ser2456=)
c.7359T>C (p.Ser2453=)
c.1308T>C (p.Ser436=)
c.1566T>C (p.Ser522=)
c.7341T>C (p.Ser2447=)
c.7260T>C (p.Ser2420=)
n.6611T>C
c.7269T>C (p.Ser2423=)
c.7146T>C (p.Ser2382=)
n.1396T>C
c.4752T>C (p.Ser1584=)
c.7365T>C (p.Ser2455=)
c.5175T>C (p.Ser1725=)
c.4851T>C (p.Ser1617=)
 dbSNP
11g.118503161T>GCA477359261KMT2Ac.7368T>G (p.Ser2456=)
c.7359T>G (p.Ser2453=)
c.1308T>G (p.Ser436=)
c.1566T>G (p.Ser522=)
c.7341T>G (p.Ser2447=)
c.7260T>G (p.Ser2420=)
n.6611T>G
c.7269T>G (p.Ser2423=)
c.7146T>G (p.Ser2382=)
n.1396T>G
c.4752T>G (p.Ser1584=)
c.7365T>G (p.Ser2455=)
c.5175T>G (p.Ser1725=)
c.4851T>G (p.Ser1617=)
11g.118503162A>CCA382804901KMT2Ac.7369A>C (p.Ser2457Arg)
c.7360A>C (p.Ser2454Arg)
c.1309A>C (p.Ser437Arg)
c.1567A>C (p.Ser523Arg)
c.7342A>C (p.Ser2448Arg)
c.7261A>C (p.Ser2421Arg)
n.6612A>C
c.7270A>C (p.Ser2424Arg)
c.7147A>C (p.Ser2383Arg)
n.1397A>C
c.4753A>C (p.Ser1585Arg)
c.7366A>C (p.Ser2456Arg)
c.5176A>C (p.Ser1726Arg)
c.4852A>C (p.Ser1618Arg)
11g.118503162A>GCA382804902KMT2Ac.7369A>G (p.Ser2457Gly)
c.7360A>G (p.Ser2454Gly)
c.1309A>G (p.Ser437Gly)
c.1567A>G (p.Ser523Gly)
c.7342A>G (p.Ser2448Gly)
c.7261A>G (p.Ser2421Gly)
n.6612A>G
c.7270A>G (p.Ser2424Gly)
c.7147A>G (p.Ser2383Gly)
n.1397A>G
c.4753A>G (p.Ser1585Gly)
c.7366A>G (p.Ser2456Gly)
c.5176A>G (p.Ser1726Gly)
c.4852A>G (p.Ser1618Gly)
11g.118503162A>TCA382804903KMT2Ac.7369A>T (p.Ser2457Cys)
c.7360A>T (p.Ser2454Cys)
c.1309A>T (p.Ser437Cys)
c.1567A>T (p.Ser523Cys)
c.7342A>T (p.Ser2448Cys)
c.7261A>T (p.Ser2421Cys)
n.6612A>T
c.7270A>T (p.Ser2424Cys)
c.7147A>T (p.Ser2383Cys)
n.1397A>T
c.4753A>T (p.Ser1585Cys)
c.7366A>T (p.Ser2456Cys)
c.5176A>T (p.Ser1726Cys)
c.4852A>T (p.Ser1618Cys)
11g.118503163G>ACA382804909KMT2Ac.7370G>A (p.Ser2457Asn)
c.7361G>A (p.Ser2454Asn)
c.1310G>A (p.Ser437Asn)
c.1568G>A (p.Ser523Asn)
c.7343G>A (p.Ser2448Asn)
c.7262G>A (p.Ser2421Asn)
n.6613G>A
c.7271G>A (p.Ser2424Asn)
c.7148G>A (p.Ser2383Asn)
n.1398G>A
c.4754G>A (p.Ser1585Asn)
c.7367G>A (p.Ser2456Asn)
c.5177G>A (p.Ser1726Asn)
c.4853G>A (p.Ser1618Asn)
 dbSNP
11g.118503163G>CCA382804907KMT2Ac.7370G>C (p.Ser2457Thr)
c.7361G>C (p.Ser2454Thr)
c.1310G>C (p.Ser437Thr)
c.1568G>C (p.Ser523Thr)
c.7343G>C (p.Ser2448Thr)
c.7262G>C (p.Ser2421Thr)
n.6613G>C
c.7271G>C (p.Ser2424Thr)
c.7148G>C (p.Ser2383Thr)
n.1398G>C
c.4754G>C (p.Ser1585Thr)
c.7367G>C (p.Ser2456Thr)
c.5177G>C (p.Ser1726Thr)
c.4853G>C (p.Ser1618Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503163G=CA2003527499KMT2Ac.7370G= (p.Ser2457=)
c.7361G= (p.Ser2454=)
c.1310G= (p.Ser437=)
c.1568G= (p.Ser523=)
c.7343G= (p.Ser2448=)
c.7262G= (p.Ser2421=)
n.6613G=
c.7271G= (p.Ser2424=)
c.7148G= (p.Ser2383=)
n.1398G=
c.4754G= (p.Ser1585=)
c.7367G= (p.Ser2456=)
c.5177G= (p.Ser1726=)
c.4853G= (p.Ser1618=)
11g.118503163G>TCA382804905KMT2Ac.7370G>T (p.Ser2457Ile)
c.7361G>T (p.Ser2454Ile)
c.1310G>T (p.Ser437Ile)
c.1568G>T (p.Ser523Ile)
c.7343G>T (p.Ser2448Ile)
c.7262G>T (p.Ser2421Ile)
n.6613G>T
c.7271G>T (p.Ser2424Ile)
c.7148G>T (p.Ser2383Ile)
n.1398G>T
c.4754G>T (p.Ser1585Ile)
c.7367G>T (p.Ser2456Ile)
c.5177G>T (p.Ser1726Ile)
c.4853G>T (p.Ser1618Ile)
11g.118503164T>ACA382804910KMT2Ac.7371T>A (p.Ser2457Arg)
c.7362T>A (p.Ser2454Arg)
c.1311T>A (p.Ser437Arg)
c.1569T>A (p.Ser523Arg)
c.7344T>A (p.Ser2448Arg)
c.7263T>A (p.Ser2421Arg)
n.6614T>A
c.7272T>A (p.Ser2424Arg)
c.7149T>A (p.Ser2383Arg)
n.1399T>A
c.4755T>A (p.Ser1585Arg)
c.7368T>A (p.Ser2456Arg)
c.5178T>A (p.Ser1726Arg)
c.4854T>A (p.Ser1618Arg)
11g.118503164T>CCA477359262KMT2Ac.7371T>C (p.Ser2457=)
c.7362T>C (p.Ser2454=)
c.1311T>C (p.Ser437=)
c.1569T>C (p.Ser523=)
c.7344T>C (p.Ser2448=)
c.7263T>C (p.Ser2421=)
n.6614T>C
c.7272T>C (p.Ser2424=)
c.7149T>C (p.Ser2383=)
n.1399T>C
c.4755T>C (p.Ser1585=)
c.7368T>C (p.Ser2456=)
c.5178T>C (p.Ser1726=)
c.4854T>C (p.Ser1618=)
 ClinVar dbSNP gnomAD v4
11g.118503164T>GCA382804912KMT2Ac.7371T>G (p.Ser2457Arg)
c.7362T>G (p.Ser2454Arg)
c.1311T>G (p.Ser437Arg)
c.1569T>G (p.Ser523Arg)
c.7344T>G (p.Ser2448Arg)
c.7263T>G (p.Ser2421Arg)
n.6614T>G
c.7272T>G (p.Ser2424Arg)
c.7149T>G (p.Ser2383Arg)
n.1399T>G
c.4755T>G (p.Ser1585Arg)
c.7368T>G (p.Ser2456Arg)
c.5178T>G (p.Ser1726Arg)
c.4854T>G (p.Ser1618Arg)
11g.118503165T>ACA382804914KMT2Ac.7372T>A (p.Ser2458Thr)
c.7363T>A (p.Ser2455Thr)
c.1312T>A (p.Ser438Thr)
c.1570T>A (p.Ser524Thr)
c.7345T>A (p.Ser2449Thr)
c.7264T>A (p.Ser2422Thr)
n.6615T>A
c.7273T>A (p.Ser2425Thr)
c.7150T>A (p.Ser2384Thr)
n.1400T>A
c.4756T>A (p.Ser1586Thr)
c.7369T>A (p.Ser2457Thr)
c.5179T>A (p.Ser1727Thr)
c.4855T>A (p.Ser1619Thr)
11g.118503165T>CCA382804915KMT2Ac.7372T>C (p.Ser2458Pro)
c.7363T>C (p.Ser2455Pro)
c.1312T>C (p.Ser438Pro)
c.1570T>C (p.Ser524Pro)
c.7345T>C (p.Ser2449Pro)
c.7264T>C (p.Ser2422Pro)
n.6615T>C
c.7273T>C (p.Ser2425Pro)
c.7150T>C (p.Ser2384Pro)
n.1400T>C
c.4756T>C (p.Ser1586Pro)
c.7369T>C (p.Ser2457Pro)
c.5179T>C (p.Ser1727Pro)
c.4855T>C (p.Ser1619Pro)
11g.118503165T>GCA382804917KMT2Ac.7372T>G (p.Ser2458Ala)
c.7363T>G (p.Ser2455Ala)
c.1312T>G (p.Ser438Ala)
c.1570T>G (p.Ser524Ala)
c.7345T>G (p.Ser2449Ala)
c.7264T>G (p.Ser2422Ala)
n.6615T>G
c.7273T>G (p.Ser2425Ala)
c.7150T>G (p.Ser2384Ala)
n.1400T>G
c.4756T>G (p.Ser1586Ala)
c.7369T>G (p.Ser2457Ala)
c.5179T>G (p.Ser1727Ala)
c.4855T>G (p.Ser1619Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503165T=CA2003527502KMT2Ac.7372T= (p.Ser2458=)
c.7363T= (p.Ser2455=)
c.1312T= (p.Ser438=)
c.1570T= (p.Ser524=)
c.7345T= (p.Ser2449=)
c.7264T= (p.Ser2422=)
n.6615T=
c.7273T= (p.Ser2425=)
c.7150T= (p.Ser2384=)
n.1400T=
c.4756T= (p.Ser1586=)
c.7369T= (p.Ser2457=)
c.5179T= (p.Ser1727=)
c.4855T= (p.Ser1619=)
11g.118503166C>ACA382804919KMT2Ac.7373C>A (p.Ser2458Tyr)
c.7364C>A (p.Ser2455Tyr)
c.1313C>A (p.Ser438Tyr)
c.1571C>A (p.Ser524Tyr)
c.7346C>A (p.Ser2449Tyr)
c.7265C>A (p.Ser2422Tyr)
n.6616C>A
c.7274C>A (p.Ser2425Tyr)
c.7151C>A (p.Ser2384Tyr)
n.1401C>A
c.4757C>A (p.Ser1586Tyr)
c.7370C>A (p.Ser2457Tyr)
c.5180C>A (p.Ser1727Tyr)
c.4856C>A (p.Ser1619Tyr)
 dbSNP
11g.118503166C>GCA382804920KMT2Ac.7373C>G (p.Ser2458Cys)
c.7364C>G (p.Ser2455Cys)
c.1313C>G (p.Ser438Cys)
c.1571C>G (p.Ser524Cys)
c.7346C>G (p.Ser2449Cys)
c.7265C>G (p.Ser2422Cys)
n.6616C>G
c.7274C>G (p.Ser2425Cys)
c.7151C>G (p.Ser2384Cys)
n.1401C>G
c.4757C>G (p.Ser1586Cys)
c.7370C>G (p.Ser2457Cys)
c.5180C>G (p.Ser1727Cys)
c.4856C>G (p.Ser1619Cys)
 dbSNP
11g.118503166C>TCA382804922KMT2Ac.7373C>T (p.Ser2458Phe)
c.7364C>T (p.Ser2455Phe)
c.1313C>T (p.Ser438Phe)
c.1571C>T (p.Ser524Phe)
c.7346C>T (p.Ser2449Phe)
c.7265C>T (p.Ser2422Phe)
n.6616C>T
c.7274C>T (p.Ser2425Phe)
c.7151C>T (p.Ser2384Phe)
n.1401C>T
c.4757C>T (p.Ser1586Phe)
c.7370C>T (p.Ser2457Phe)
c.5180C>T (p.Ser1727Phe)
c.4856C>T (p.Ser1619Phe)
 COSMIC COSMIC
11g.118503167delCA2725086116KMT2Ac.7374del (p.Arg2459GlufsTer?)
c.7365del (p.Arg2456GlufsTer?)
c.1314del (p.Arg439GlufsTer?)
c.1572del (p.Arg525GlufsTer?)
c.7347del (p.Arg2450GlufsTer?)
c.7266del (p.Arg2423GlufsTer?)
n.6617del
c.7275del (p.Arg2426GlufsTer?)
c.7152del (p.Arg2385GlufsTer?)
n.1402del
c.4758del (p.Arg1587GlufsTer?)
c.7371del (p.Arg2458GlufsTer?)
c.5181del (p.Arg1728GlufsTer?)
c.4857del (p.Arg1620GlufsTer?)
 dbSNP
11g.118503167C>ACA477359264KMT2Ac.7374C>A (p.Ser2458=)
c.7365C>A (p.Ser2455=)
c.1314C>A (p.Ser438=)
c.1572C>A (p.Ser524=)
c.7347C>A (p.Ser2449=)
c.7266C>A (p.Ser2422=)
n.6617C>A
c.7275C>A (p.Ser2425=)
c.7152C>A (p.Ser2384=)
n.1402C>A
c.4758C>A (p.Ser1586=)
c.7371C>A (p.Ser2457=)
c.5181C>A (p.Ser1727=)
c.4857C>A (p.Ser1619=)
11g.118503167C>GCA477359265KMT2Ac.7374C>G (p.Ser2458=)
c.7365C>G (p.Ser2455=)
c.1314C>G (p.Ser438=)
c.1572C>G (p.Ser524=)
c.7347C>G (p.Ser2449=)
c.7266C>G (p.Ser2422=)
n.6617C>G
c.7275C>G (p.Ser2425=)
c.7152C>G (p.Ser2384=)
n.1402C>G
c.4758C>G (p.Ser1586=)
c.7371C>G (p.Ser2457=)
c.5181C>G (p.Ser1727=)
c.4857C>G (p.Ser1619=)
 dbSNP
11g.118503167C>TCA477359266KMT2Ac.7374C>T (p.Ser2458=)
c.7365C>T (p.Ser2455=)
c.1314C>T (p.Ser438=)
c.1572C>T (p.Ser524=)
c.7347C>T (p.Ser2449=)
c.7266C>T (p.Ser2422=)
n.6617C>T
c.7275C>T (p.Ser2425=)
c.7152C>T (p.Ser2384=)
n.1402C>T
c.4758C>T (p.Ser1586=)
c.7371C>T (p.Ser2457=)
c.5181C>T (p.Ser1727=)
c.4857C>T (p.Ser1619=)
 gnomAD v4
11g.118503168A>CCA477359267KMT2Ac.7375A>C (p.Arg2459=)
c.7366A>C (p.Arg2456=)
c.1315A>C (p.Arg439=)
c.1573A>C (p.Arg525=)
c.7348A>C (p.Arg2450=)
c.7267A>C (p.Arg2423=)
n.6618A>C
c.7276A>C (p.Arg2426=)
c.7153A>C (p.Arg2385=)
n.1403A>C
c.4759A>C (p.Arg1587=)
c.7372A>C (p.Arg2458=)
c.5182A>C (p.Arg1728=)
c.4858A>C (p.Arg1620=)
11g.118503168A>GCA382804924KMT2Ac.7375A>G (p.Arg2459Gly)
c.7366A>G (p.Arg2456Gly)
c.1315A>G (p.Arg439Gly)
c.1573A>G (p.Arg525Gly)
c.7348A>G (p.Arg2450Gly)
c.7267A>G (p.Arg2423Gly)
n.6618A>G
c.7276A>G (p.Arg2426Gly)
c.7153A>G (p.Arg2385Gly)
n.1403A>G
c.4759A>G (p.Arg1587Gly)
c.7372A>G (p.Arg2458Gly)
c.5182A>G (p.Arg1728Gly)
c.4858A>G (p.Arg1620Gly)
11g.118503168A>TCA382804925KMT2Ac.7375A>T (p.Arg2459Ter)
c.7366A>T (p.Arg2456Ter)
c.1315A>T (p.Arg439Ter)
c.1573A>T (p.Arg525Ter)
c.7348A>T (p.Arg2450Ter)
c.7267A>T (p.Arg2423Ter)
n.6618A>T
c.7276A>T (p.Arg2426Ter)
c.7153A>T (p.Arg2385Ter)
n.1403A>T
c.4759A>T (p.Arg1587Ter)
c.7372A>T (p.Arg2458Ter)
c.5182A>T (p.Arg1728Ter)
c.4858A>T (p.Arg1620Ter)
11g.118503169G>ACA382804927KMT2Ac.7376G>A (p.Arg2459Lys)
c.7367G>A (p.Arg2456Lys)
c.1316G>A (p.Arg439Lys)
c.1574G>A (p.Arg525Lys)
c.7349G>A (p.Arg2450Lys)
c.7268G>A (p.Arg2423Lys)
n.6619G>A
c.7277G>A (p.Arg2426Lys)
c.7154G>A (p.Arg2385Lys)
n.1404G>A
c.4760G>A (p.Arg1587Lys)
c.7373G>A (p.Arg2458Lys)
c.5183G>A (p.Arg1728Lys)
c.4859G>A (p.Arg1620Lys)
 dbSNP
11g.118503169G>CCA382804929KMT2Ac.7376G>C (p.Arg2459Thr)
c.7367G>C (p.Arg2456Thr)
c.1316G>C (p.Arg439Thr)
c.1574G>C (p.Arg525Thr)
c.7349G>C (p.Arg2450Thr)
c.7268G>C (p.Arg2423Thr)
n.6619G>C
c.7277G>C (p.Arg2426Thr)
c.7154G>C (p.Arg2385Thr)
n.1404G>C
c.4760G>C (p.Arg1587Thr)
c.7373G>C (p.Arg2458Thr)
c.5183G>C (p.Arg1728Thr)
c.4859G>C (p.Arg1620Thr)
11g.118503169G>TCA382804930KMT2Ac.7376G>T (p.Arg2459Ile)
c.7367G>T (p.Arg2456Ile)
c.1316G>T (p.Arg439Ile)
c.1574G>T (p.Arg525Ile)
c.7349G>T (p.Arg2450Ile)
c.7268G>T (p.Arg2423Ile)
n.6619G>T
c.7277G>T (p.Arg2426Ile)
c.7154G>T (p.Arg2385Ile)
n.1404G>T
c.4760G>T (p.Arg1587Ile)
c.7373G>T (p.Arg2458Ile)
c.5183G>T (p.Arg1728Ile)
c.4859G>T (p.Arg1620Ile)
11g.118503170A>CCA382804934KMT2Ac.7377A>C (p.Arg2459Ser)
c.7368A>C (p.Arg2456Ser)
c.1317A>C (p.Arg439Ser)
c.1575A>C (p.Arg525Ser)
c.7350A>C (p.Arg2450Ser)
c.7269A>C (p.Arg2423Ser)
n.6620A>C
c.7278A>C (p.Arg2426Ser)
c.7155A>C (p.Arg2385Ser)
n.1405A>C
c.4761A>C (p.Arg1587Ser)
c.7374A>C (p.Arg2458Ser)
c.5184A>C (p.Arg1728Ser)
c.4860A>C (p.Arg1620Ser)
11g.118503170A>GCA477359269KMT2Ac.7377A>G (p.Arg2459=)
c.7368A>G (p.Arg2456=)
c.1317A>G (p.Arg439=)
c.1575A>G (p.Arg525=)
c.7350A>G (p.Arg2450=)
c.7269A>G (p.Arg2423=)
n.6620A>G
c.7278A>G (p.Arg2426=)
c.7155A>G (p.Arg2385=)
n.1405A>G
c.4761A>G (p.Arg1587=)
c.7374A>G (p.Arg2458=)
c.5184A>G (p.Arg1728=)
c.4860A>G (p.Arg1620=)
11g.118503170A>TCA382804932KMT2Ac.7377A>T (p.Arg2459Ser)
c.7368A>T (p.Arg2456Ser)
c.1317A>T (p.Arg439Ser)
c.1575A>T (p.Arg525Ser)
c.7350A>T (p.Arg2450Ser)
c.7269A>T (p.Arg2423Ser)
n.6620A>T
c.7278A>T (p.Arg2426Ser)
c.7155A>T (p.Arg2385Ser)
n.1405A>T
c.4761A>T (p.Arg1587Ser)
c.7374A>T (p.Arg2458Ser)
c.5184A>T (p.Arg1728Ser)
c.4860A>T (p.Arg1620Ser)
11g.118503171G>ACA382804936KMT2Ac.7378G>A (p.Asp2460Asn)
c.7369G>A (p.Asp2457Asn)
c.1318G>A (p.Asp440Asn)
c.1576G>A (p.Asp526Asn)
c.7351G>A (p.Asp2451Asn)
c.7270G>A (p.Asp2424Asn)
n.6621G>A
c.7279G>A (p.Asp2427Asn)
c.7156G>A (p.Asp2386Asn)
n.1406G>A
c.4762G>A (p.Asp1588Asn)
c.7375G>A (p.Asp2459Asn)
c.5185G>A (p.Asp1729Asn)
c.4861G>A (p.Asp1621Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.118503171G>CCA382804937KMT2Ac.7378G>C (p.Asp2460His)
c.7369G>C (p.Asp2457His)
c.1318G>C (p.Asp440His)
c.1576G>C (p.Asp526His)
c.7351G>C (p.Asp2451His)
c.7270G>C (p.Asp2424His)
n.6621G>C
c.7279G>C (p.Asp2427His)
c.7156G>C (p.Asp2386His)
n.1406G>C
c.4762G>C (p.Asp1588His)
c.7375G>C (p.Asp2459His)
c.5185G>C (p.Asp1729His)
c.4861G>C (p.Asp1621His)
11g.118503171G=CA2003527507KMT2Ac.7378G= (p.Asp2460=)
c.7369G= (p.Asp2457=)
c.1318G= (p.Asp440=)
c.1576G= (p.Asp526=)
c.7351G= (p.Asp2451=)
c.7270G= (p.Asp2424=)
n.6621G=
c.7279G= (p.Asp2427=)
c.7156G= (p.Asp2386=)
n.1406G=
c.4762G= (p.Asp1588=)
c.7375G= (p.Asp2459=)
c.5185G= (p.Asp1729=)
c.4861G= (p.Asp1621=)
11g.118503171G>TCA382804938KMT2Ac.7378G>T (p.Asp2460Tyr)
c.7369G>T (p.Asp2457Tyr)
c.1318G>T (p.Asp440Tyr)
c.1576G>T (p.Asp526Tyr)
c.7351G>T (p.Asp2451Tyr)
c.7270G>T (p.Asp2424Tyr)
n.6621G>T
c.7279G>T (p.Asp2427Tyr)
c.7156G>T (p.Asp2386Tyr)
n.1406G>T
c.4762G>T (p.Asp1588Tyr)
c.7375G>T (p.Asp2459Tyr)
c.5185G>T (p.Asp1729Tyr)
c.4861G>T (p.Asp1621Tyr)
11g.118503172A=CA2003527511KMT2Ac.7379A= (p.Asp2460=)
c.7370A= (p.Asp2457=)
c.1319A= (p.Asp440=)
c.1577A= (p.Asp526=)
c.7352A= (p.Asp2451=)
c.7271A= (p.Asp2424=)
n.6622A=
c.7280A= (p.Asp2427=)
c.7157A= (p.Asp2386=)
n.1407A=
c.4763A= (p.Asp1588=)
c.7376A= (p.Asp2459=)
c.5186A= (p.Asp1729=)
c.4862A= (p.Asp1621=)
11g.118503172A>CCA382804941KMT2Ac.7379A>C (p.Asp2460Ala)
c.7370A>C (p.Asp2457Ala)
c.1319A>C (p.Asp440Ala)
c.1577A>C (p.Asp526Ala)
c.7352A>C (p.Asp2451Ala)
c.7271A>C (p.Asp2424Ala)
n.6622A>C
c.7280A>C (p.Asp2427Ala)
c.7157A>C (p.Asp2386Ala)
n.1407A>C
c.4763A>C (p.Asp1588Ala)
c.7376A>C (p.Asp2459Ala)
c.5186A>C (p.Asp1729Ala)
c.4862A>C (p.Asp1621Ala)
11g.118503172A>GCA382804942KMT2Ac.7379A>G (p.Asp2460Gly)
c.7370A>G (p.Asp2457Gly)
c.1319A>G (p.Asp440Gly)
c.1577A>G (p.Asp526Gly)
c.7352A>G (p.Asp2451Gly)
c.7271A>G (p.Asp2424Gly)
n.6622A>G
c.7280A>G (p.Asp2427Gly)
c.7157A>G (p.Asp2386Gly)
n.1407A>G
c.4763A>G (p.Asp1588Gly)
c.7376A>G (p.Asp2459Gly)
c.5186A>G (p.Asp1729Gly)
c.4862A>G (p.Asp1621Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503172A>TCA382804944KMT2Ac.7379A>T (p.Asp2460Val)
c.7370A>T (p.Asp2457Val)
c.1319A>T (p.Asp440Val)
c.1577A>T (p.Asp526Val)
c.7352A>T (p.Asp2451Val)
c.7271A>T (p.Asp2424Val)
n.6622A>T
c.7280A>T (p.Asp2427Val)
c.7157A>T (p.Asp2386Val)
n.1407A>T
c.4763A>T (p.Asp1588Val)
c.7376A>T (p.Asp2459Val)
c.5186A>T (p.Asp1729Val)
c.4862A>T (p.Asp1621Val)
11g.118503173T>ACA382804945KMT2Ac.7380T>A (p.Asp2460Glu)
c.7371T>A (p.Asp2457Glu)
c.1320T>A (p.Asp440Glu)
c.1578T>A (p.Asp526Glu)
c.7353T>A (p.Asp2451Glu)
c.7272T>A (p.Asp2424Glu)
n.6623T>A
c.7281T>A (p.Asp2427Glu)
c.7158T>A (p.Asp2386Glu)
n.1408T>A
c.4764T>A (p.Asp1588Glu)
c.7377T>A (p.Asp2459Glu)
c.5187T>A (p.Asp1729Glu)
c.4863T>A (p.Asp1621Glu)
11g.118503173T>CCA477359273KMT2Ac.7380T>C (p.Asp2460=)
c.7371T>C (p.Asp2457=)
c.1320T>C (p.Asp440=)
c.1578T>C (p.Asp526=)
c.7353T>C (p.Asp2451=)
c.7272T>C (p.Asp2424=)
n.6623T>C
c.7281T>C (p.Asp2427=)
c.7158T>C (p.Asp2386=)
n.1408T>C
c.4764T>C (p.Asp1588=)
c.7377T>C (p.Asp2459=)
c.5187T>C (p.Asp1729=)
c.4863T>C (p.Asp1621=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503173T>GCA382804947KMT2Ac.7380T>G (p.Asp2460Glu)
c.7371T>G (p.Asp2457Glu)
c.1320T>G (p.Asp440Glu)
c.1578T>G (p.Asp526Glu)
c.7353T>G (p.Asp2451Glu)
c.7272T>G (p.Asp2424Glu)
n.6623T>G
c.7281T>G (p.Asp2427Glu)
c.7158T>G (p.Asp2386Glu)
n.1408T>G
c.4764T>G (p.Asp1588Glu)
c.7377T>G (p.Asp2459Glu)
c.5187T>G (p.Asp1729Glu)
c.4863T>G (p.Asp1621Glu)
11g.118503173T=CA2003527516KMT2Ac.7380T= (p.Asp2460=)
c.7371T= (p.Asp2457=)
c.1320T= (p.Asp440=)
c.1578T= (p.Asp526=)
c.7353T= (p.Asp2451=)
c.7272T= (p.Asp2424=)
n.6623T=
c.7281T= (p.Asp2427=)
c.7158T= (p.Asp2386=)
n.1408T=
c.4764T= (p.Asp1588=)
c.7377T= (p.Asp2459=)
c.5187T= (p.Asp1729=)
c.4863T= (p.Asp1621=)
11g.118503173_118503176delinsTAGGCA2003527514KMT2Ac.7380_7383delinsTAGG (p.Asp2460=)
c.7371_7374delinsTAGG (p.Asp2457=)
c.1320_1323delinsTAGG (p.Asp440=)
c.1578_1581delinsTAGG (p.Asp526=)
c.7353_7356delinsTAGG (p.Asp2451=)
c.7272_7275delinsTAGG (p.Asp2424=)
n.6623_6626delinsTAGG
c.7281_7284delinsTAGG (p.Asp2427=)
c.7158_7161delinsTAGG (p.Asp2386=)
n.1408_1411delinsTAGG
c.4764_4767delinsTAGG (p.Asp1588=)
c.7377_7380delinsTAGG (p.Asp2459=)
c.5187_5190delinsTAGG (p.Asp1729=)
c.4863_4866delinsTAGG (p.Asp1621=)
11g.118503174A>CCA477359274KMT2Ac.7381A>C (p.Arg2461=)
c.7372A>C (p.Arg2458=)
c.1321A>C (p.Arg441=)
c.1579A>C (p.Arg527=)
c.7354A>C (p.Arg2452=)
c.7273A>C (p.Arg2425=)
n.6624A>C
c.7282A>C (p.Arg2428=)
c.7159A>C (p.Arg2387=)
n.1409A>C
c.4765A>C (p.Arg1589=)
c.7378A>C (p.Arg2460=)
c.5188A>C (p.Arg1730=)
c.4864A>C (p.Arg1622=)
11g.118503174A>GCA382804949KMT2Ac.7381A>G (p.Arg2461Gly)
c.7372A>G (p.Arg2458Gly)
c.1321A>G (p.Arg441Gly)
c.1579A>G (p.Arg527Gly)
c.7354A>G (p.Arg2452Gly)
c.7273A>G (p.Arg2425Gly)
n.6624A>G
c.7282A>G (p.Arg2428Gly)
c.7159A>G (p.Arg2387Gly)
n.1409A>G
c.4765A>G (p.Arg1589Gly)
c.7378A>G (p.Arg2460Gly)
c.5188A>G (p.Arg1730Gly)
c.4864A>G (p.Arg1622Gly)
11g.118503174A>TCA382804950KMT2Ac.7381A>T (p.Arg2461Trp)
c.7372A>T (p.Arg2458Trp)
c.1321A>T (p.Arg441Trp)
c.1579A>T (p.Arg527Trp)
c.7354A>T (p.Arg2452Trp)
c.7273A>T (p.Arg2425Trp)
n.6624A>T
c.7282A>T (p.Arg2428Trp)
c.7159A>T (p.Arg2387Trp)
n.1409A>T
c.4765A>T (p.Arg1589Trp)
c.7378A>T (p.Arg2460Trp)
c.5188A>T (p.Arg1730Trp)
c.4864A>T (p.Arg1622Trp)
11g.118503176_118503178delCA2003527522KMT2Ac.7383_7385del (p.Arg2462del)
c.7374_7376del (p.Arg2459del)
c.1323_1325del (p.Arg442del)
c.1581_1583del (p.Arg528del)
c.7356_7358del (p.Arg2453del)
c.7275_7277del (p.Arg2426del)
n.6626_6628del
c.7284_7286del (p.Arg2429del)
c.7161_7163del (p.Arg2388del)
n.1411_1413del
c.4767_4769del (p.Arg1590del)
c.7380_7382del (p.Arg2461del)
c.5190_5192del (p.Arg1731del)
c.4866_4868del (p.Arg1623del)
 dbSNP
11g.118503175G>ACA382804952KMT2Ac.7382G>A (p.Arg2461Lys)
c.7373G>A (p.Arg2458Lys)
c.1322G>A (p.Arg441Lys)
c.1580G>A (p.Arg527Lys)
c.7355G>A (p.Arg2452Lys)
c.7274G>A (p.Arg2425Lys)
n.6625G>A
c.7283G>A (p.Arg2428Lys)
c.7160G>A (p.Arg2387Lys)
n.1410G>A
c.4766G>A (p.Arg1589Lys)
c.7379G>A (p.Arg2460Lys)
c.5189G>A (p.Arg1730Lys)
c.4865G>A (p.Arg1622Lys)
11g.118503175G>CCA382804954KMT2Ac.7382G>C (p.Arg2461Thr)
c.7373G>C (p.Arg2458Thr)
c.1322G>C (p.Arg441Thr)
c.1580G>C (p.Arg527Thr)
c.7355G>C (p.Arg2452Thr)
c.7274G>C (p.Arg2425Thr)
n.6625G>C
c.7283G>C (p.Arg2428Thr)
c.7160G>C (p.Arg2387Thr)
n.1410G>C
c.4766G>C (p.Arg1589Thr)
c.7379G>C (p.Arg2460Thr)
c.5189G>C (p.Arg1730Thr)
c.4865G>C (p.Arg1622Thr)
11g.118503175G>TCA382804955KMT2Ac.7382G>T (p.Arg2461Met)
c.7373G>T (p.Arg2458Met)
c.1322G>T (p.Arg441Met)
c.1580G>T (p.Arg527Met)
c.7355G>T (p.Arg2452Met)
c.7274G>T (p.Arg2425Met)
n.6625G>T
c.7283G>T (p.Arg2428Met)
c.7160G>T (p.Arg2387Met)
n.1410G>T
c.4766G>T (p.Arg1589Met)
c.7379G>T (p.Arg2460Met)
c.5189G>T (p.Arg1730Met)
c.4865G>T (p.Arg1622Met)
11g.118503176G>ACA477359276KMT2Ac.7383G>A (p.Arg2461=)
c.7374G>A (p.Arg2458=)
c.1323G>A (p.Arg441=)
c.1581G>A (p.Arg527=)
c.7356G>A (p.Arg2452=)
c.7275G>A (p.Arg2425=)
n.6626G>A
c.7284G>A (p.Arg2428=)
c.7161G>A (p.Arg2387=)
n.1411G>A
c.4767G>A (p.Arg1589=)
c.7380G>A (p.Arg2460=)
c.5190G>A (p.Arg1730=)
c.4866G>A (p.Arg1622=)
11g.118503176G>CCA382804957KMT2Ac.7383G>C (p.Arg2461Ser)
c.7374G>C (p.Arg2458Ser)
c.1323G>C (p.Arg441Ser)
c.1581G>C (p.Arg527Ser)
c.7356G>C (p.Arg2452Ser)
c.7275G>C (p.Arg2425Ser)
n.6626G>C
c.7284G>C (p.Arg2428Ser)
c.7161G>C (p.Arg2387Ser)
n.1411G>C
c.4767G>C (p.Arg1589Ser)
c.7380G>C (p.Arg2460Ser)
c.5190G>C (p.Arg1730Ser)
c.4866G>C (p.Arg1622Ser)
11g.118503176G>TCA382804958KMT2Ac.7383G>T (p.Arg2461Ser)
c.7374G>T (p.Arg2458Ser)
c.1323G>T (p.Arg441Ser)
c.1581G>T (p.Arg527Ser)
c.7356G>T (p.Arg2452Ser)
c.7275G>T (p.Arg2425Ser)
n.6626G>T
c.7284G>T (p.Arg2428Ser)
c.7161G>T (p.Arg2387Ser)
n.1411G>T
c.4767G>T (p.Arg1589Ser)
c.7380G>T (p.Arg2460Ser)
c.5190G>T (p.Arg1730Ser)
c.4866G>T (p.Arg1622Ser)
11g.118503177A>CCA477359278KMT2Ac.7384A>C (p.Arg2462=)
c.7375A>C (p.Arg2459=)
c.1324A>C (p.Arg442=)
c.1582A>C (p.Arg528=)
c.7357A>C (p.Arg2453=)
c.7276A>C (p.Arg2426=)
n.6627A>C
c.7285A>C (p.Arg2429=)
c.7162A>C (p.Arg2388=)
n.1412A>C
c.4768A>C (p.Arg1590=)
c.7381A>C (p.Arg2461=)
c.5191A>C (p.Arg1731=)
c.4867A>C (p.Arg1623=)
11g.118503177A>GCA382804960KMT2Ac.7384A>G (p.Arg2462Gly)
c.7375A>G (p.Arg2459Gly)
c.1324A>G (p.Arg442Gly)
c.1582A>G (p.Arg528Gly)
c.7357A>G (p.Arg2453Gly)
c.7276A>G (p.Arg2426Gly)
n.6627A>G
c.7285A>G (p.Arg2429Gly)
c.7162A>G (p.Arg2388Gly)
n.1412A>G
c.4768A>G (p.Arg1590Gly)
c.7381A>G (p.Arg2461Gly)
c.5191A>G (p.Arg1731Gly)
c.4867A>G (p.Arg1623Gly)
11g.118503177A>TCA382804962KMT2Ac.7384A>T (p.Arg2462Ter)
c.7375A>T (p.Arg2459Ter)
c.1324A>T (p.Arg442Ter)
c.1582A>T (p.Arg528Ter)
c.7357A>T (p.Arg2453Ter)
c.7276A>T (p.Arg2426Ter)
n.6627A>T
c.7285A>T (p.Arg2429Ter)
c.7162A>T (p.Arg2388Ter)
n.1412A>T
c.4768A>T (p.Arg1590Ter)
c.7381A>T (p.Arg2461Ter)
c.5191A>T (p.Arg1731Ter)
c.4867A>T (p.Arg1623Ter)
11g.118503178G>ACA382804964KMT2Ac.7385G>A (p.Arg2462Lys)
c.7376G>A (p.Arg2459Lys)
c.1325G>A (p.Arg442Lys)
c.1583G>A (p.Arg528Lys)
c.7358G>A (p.Arg2453Lys)
c.7277G>A (p.Arg2426Lys)
n.6628G>A
c.7286G>A (p.Arg2429Lys)
c.7163G>A (p.Arg2388Lys)
n.1413G>A
c.4769G>A (p.Arg1590Lys)
c.7382G>A (p.Arg2461Lys)
c.5192G>A (p.Arg1731Lys)
c.4868G>A (p.Arg1623Lys)
 dbSNP COSMIC COSMIC
11g.118503178G>CCA382804965KMT2Ac.7385G>C (p.Arg2462Thr)
c.7376G>C (p.Arg2459Thr)
c.1325G>C (p.Arg442Thr)
c.1583G>C (p.Arg528Thr)
c.7358G>C (p.Arg2453Thr)
c.7277G>C (p.Arg2426Thr)
n.6628G>C
c.7286G>C (p.Arg2429Thr)
c.7163G>C (p.Arg2388Thr)
n.1413G>C
c.4769G>C (p.Arg1590Thr)
c.7382G>C (p.Arg2461Thr)
c.5192G>C (p.Arg1731Thr)
c.4868G>C (p.Arg1623Thr)
11g.118503178G>TCA382804967KMT2Ac.7385G>T (p.Arg2462Ile)
c.7376G>T (p.Arg2459Ile)
c.1325G>T (p.Arg442Ile)
c.1583G>T (p.Arg528Ile)
c.7358G>T (p.Arg2453Ile)
c.7277G>T (p.Arg2426Ile)
n.6628G>T
c.7286G>T (p.Arg2429Ile)
c.7163G>T (p.Arg2388Ile)
n.1413G>T
c.4769G>T (p.Arg1590Ile)
c.7382G>T (p.Arg2461Ile)
c.5192G>T (p.Arg1731Ile)
c.4868G>T (p.Arg1623Ile)
11g.118503179A>CCA382804969KMT2Ac.7386A>C (p.Arg2462Ser)
c.7377A>C (p.Arg2459Ser)
c.1326A>C (p.Arg442Ser)
c.1584A>C (p.Arg528Ser)
c.7359A>C (p.Arg2453Ser)
c.7278A>C (p.Arg2426Ser)
n.6629A>C
c.7287A>C (p.Arg2429Ser)
c.7164A>C (p.Arg2388Ser)
n.1414A>C
c.4770A>C (p.Arg1590Ser)
c.7383A>C (p.Arg2461Ser)
c.5193A>C (p.Arg1731Ser)
c.4869A>C (p.Arg1623Ser)
11g.118503179A>GCA477359281KMT2Ac.7386A>G (p.Arg2462=)
c.7377A>G (p.Arg2459=)
c.1326A>G (p.Arg442=)
c.1584A>G (p.Arg528=)
c.7359A>G (p.Arg2453=)
c.7278A>G (p.Arg2426=)
n.6629A>G
c.7287A>G (p.Arg2429=)
c.7164A>G (p.Arg2388=)
n.1414A>G
c.4770A>G (p.Arg1590=)
c.7383A>G (p.Arg2461=)
c.5193A>G (p.Arg1731=)
c.4869A>G (p.Arg1623=)
11g.118503179A>TCA382804971KMT2Ac.7386A>T (p.Arg2462Ser)
c.7377A>T (p.Arg2459Ser)
c.1326A>T (p.Arg442Ser)
c.1584A>T (p.Arg528Ser)
c.7359A>T (p.Arg2453Ser)
c.7278A>T (p.Arg2426Ser)
n.6629A>T
c.7287A>T (p.Arg2429Ser)
c.7164A>T (p.Arg2388Ser)
n.1414A>T
c.4770A>T (p.Arg1590Ser)
c.7383A>T (p.Arg2461Ser)
c.5193A>T (p.Arg1731Ser)
c.4869A>T (p.Arg1623Ser)
 gnomAD v4
11g.118503180C>ACA382804972KMT2Ac.7387C>A (p.Gln2463Lys)
c.7378C>A (p.Gln2460Lys)
c.1327C>A (p.Gln443Lys)
c.1585C>A (p.Gln529Lys)
c.7360C>A (p.Gln2454Lys)
c.7279C>A (p.Gln2427Lys)
n.6630C>A
c.7288C>A (p.Gln2430Lys)
c.7165C>A (p.Gln2389Lys)
n.1415C>A
c.4771C>A (p.Gln1591Lys)
c.7384C>A (p.Gln2462Lys)
c.5194C>A (p.Gln1732Lys)
c.4870C>A (p.Gln1624Lys)
11g.118503180C>GCA382804973KMT2Ac.7387C>G (p.Gln2463Glu)
c.7378C>G (p.Gln2460Glu)
c.1327C>G (p.Gln443Glu)
c.1585C>G (p.Gln529Glu)
c.7360C>G (p.Gln2454Glu)
c.7279C>G (p.Gln2427Glu)
n.6630C>G
c.7288C>G (p.Gln2430Glu)
c.7165C>G (p.Gln2389Glu)
n.1415C>G
c.4771C>G (p.Gln1591Glu)
c.7384C>G (p.Gln2462Glu)
c.5194C>G (p.Gln1732Glu)
c.4870C>G (p.Gln1624Glu)
11g.118503180C>TCA382804975KMT2Ac.7387C>T (p.Gln2463Ter)
c.7378C>T (p.Gln2460Ter)
c.1327C>T (p.Gln443Ter)
c.1585C>T (p.Gln529Ter)
c.7360C>T (p.Gln2454Ter)
c.7279C>T (p.Gln2427Ter)
n.6630C>T
c.7288C>T (p.Gln2430Ter)
c.7165C>T (p.Gln2389Ter)
n.1415C>T
c.4771C>T (p.Gln1591Ter)
c.7384C>T (p.Gln2462Ter)
c.5194C>T (p.Gln1732Ter)
c.4870C>T (p.Gln1624Ter)
11g.118503181A>CCA382804977KMT2Ac.7388A>C (p.Gln2463Pro)
c.7379A>C (p.Gln2460Pro)
c.1328A>C (p.Gln443Pro)
c.1586A>C (p.Gln529Pro)
c.7361A>C (p.Gln2454Pro)
c.7280A>C (p.Gln2427Pro)
n.6631A>C
c.7289A>C (p.Gln2430Pro)
c.7166A>C (p.Gln2389Pro)
n.1416A>C
c.4772A>C (p.Gln1591Pro)
c.7385A>C (p.Gln2462Pro)
c.5195A>C (p.Gln1732Pro)
c.4871A>C (p.Gln1624Pro)
 gnomAD v4
11g.118503181A>GCA382804979KMT2Ac.7388A>G (p.Gln2463Arg)
c.7379A>G (p.Gln2460Arg)
c.1328A>G (p.Gln443Arg)
c.1586A>G (p.Gln529Arg)
c.7361A>G (p.Gln2454Arg)
c.7280A>G (p.Gln2427Arg)
n.6631A>G
c.7289A>G (p.Gln2430Arg)
c.7166A>G (p.Gln2389Arg)
n.1416A>G
c.4772A>G (p.Gln1591Arg)
c.7385A>G (p.Gln2462Arg)
c.5195A>G (p.Gln1732Arg)
c.4871A>G (p.Gln1624Arg)
11g.118503181A>TCA382804980KMT2Ac.7388A>T (p.Gln2463Leu)
c.7379A>T (p.Gln2460Leu)
c.1328A>T (p.Gln443Leu)
c.1586A>T (p.Gln529Leu)
c.7361A>T (p.Gln2454Leu)
c.7280A>T (p.Gln2427Leu)
n.6631A>T
c.7289A>T (p.Gln2430Leu)
c.7166A>T (p.Gln2389Leu)
n.1416A>T
c.4772A>T (p.Gln1591Leu)
c.7385A>T (p.Gln2462Leu)
c.5195A>T (p.Gln1732Leu)
c.4871A>T (p.Gln1624Leu)
11g.118503182G>ACA477359284KMT2Ac.7389G>A (p.Gln2463=)
c.7380G>A (p.Gln2460=)
c.1329G>A (p.Gln443=)
c.1587G>A (p.Gln529=)
c.7362G>A (p.Gln2454=)
c.7281G>A (p.Gln2427=)
n.6632G>A
c.7290G>A (p.Gln2430=)
c.7167G>A (p.Gln2389=)
n.1417G>A
c.4773G>A (p.Gln1591=)
c.7386G>A (p.Gln2462=)
c.5196G>A (p.Gln1732=)
c.4872G>A (p.Gln1624=)
 dbSNP
11g.118503182G>CCA382804982KMT2Ac.7389G>C (p.Gln2463His)
c.7380G>C (p.Gln2460His)
c.1329G>C (p.Gln443His)
c.1587G>C (p.Gln529His)
c.7362G>C (p.Gln2454His)
c.7281G>C (p.Gln2427His)
n.6632G>C
c.7290G>C (p.Gln2430His)
c.7167G>C (p.Gln2389His)
n.1417G>C
c.4773G>C (p.Gln1591His)
c.7386G>C (p.Gln2462His)
c.5196G>C (p.Gln1732His)
c.4872G>C (p.Gln1624His)
11g.118503182G>TCA382804983KMT2Ac.7389G>T (p.Gln2463His)
c.7380G>T (p.Gln2460His)
c.1329G>T (p.Gln443His)
c.1587G>T (p.Gln529His)
c.7362G>T (p.Gln2454His)
c.7281G>T (p.Gln2427His)
n.6632G>T
c.7290G>T (p.Gln2430His)
c.7167G>T (p.Gln2389His)
n.1417G>T
c.4773G>T (p.Gln1591His)
c.7386G>T (p.Gln2462His)
c.5196G>T (p.Gln1732His)
c.4872G>T (p.Gln1624His)
11g.118503183A>CCA382804985KMT2Ac.7390A>C (p.Lys2464Gln)
c.7381A>C (p.Lys2461Gln)
c.1330A>C (p.Lys444Gln)
c.1588A>C (p.Lys530Gln)
c.7363A>C (p.Lys2455Gln)
c.7282A>C (p.Lys2428Gln)
n.6633A>C
c.7291A>C (p.Lys2431Gln)
c.7168A>C (p.Lys2390Gln)
n.1418A>C
c.4774A>C (p.Lys1592Gln)
c.7387A>C (p.Lys2463Gln)
c.5197A>C (p.Lys1733Gln)
c.4873A>C (p.Lys1625Gln)
11g.118503183A>GCA382804988KMT2Ac.7390A>G (p.Lys2464Glu)
c.7381A>G (p.Lys2461Glu)
c.1330A>G (p.Lys444Glu)
c.1588A>G (p.Lys530Glu)
c.7363A>G (p.Lys2455Glu)
c.7282A>G (p.Lys2428Glu)
n.6633A>G
c.7291A>G (p.Lys2431Glu)
c.7168A>G (p.Lys2390Glu)
n.1418A>G
c.4774A>G (p.Lys1592Glu)
c.7387A>G (p.Lys2463Glu)
c.5197A>G (p.Lys1733Glu)
c.4873A>G (p.Lys1625Glu)
11g.118503183A>TCA382804987KMT2Ac.7390A>T (p.Lys2464Ter)
c.7381A>T (p.Lys2461Ter)
c.1330A>T (p.Lys444Ter)
c.1588A>T (p.Lys530Ter)
c.7363A>T (p.Lys2455Ter)
c.7282A>T (p.Lys2428Ter)
n.6633A>T
c.7291A>T (p.Lys2431Ter)
c.7168A>T (p.Lys2390Ter)
n.1418A>T
c.4774A>T (p.Lys1592Ter)
c.7387A>T (p.Lys2463Ter)
c.5197A>T (p.Lys1733Ter)
c.4873A>T (p.Lys1625Ter)
11g.118503184A=CA2003527524KMT2Ac.7391A= (p.Lys2464=)
c.7382A= (p.Lys2461=)
c.1331A= (p.Lys444=)
c.1589A= (p.Lys530=)
c.7364A= (p.Lys2455=)
c.7283A= (p.Lys2428=)
n.6634A=
c.7292A= (p.Lys2431=)
c.7169A= (p.Lys2390=)
n.1419A=
c.4775A= (p.Lys1592=)
c.7388A= (p.Lys2463=)
c.5198A= (p.Lys1733=)
c.4874A= (p.Lys1625=)
11g.118503184A>CCA382804990KMT2Ac.7391A>C (p.Lys2464Thr)
c.7382A>C (p.Lys2461Thr)
c.1331A>C (p.Lys444Thr)
c.1589A>C (p.Lys530Thr)
c.7364A>C (p.Lys2455Thr)
c.7283A>C (p.Lys2428Thr)
n.6634A>C
c.7292A>C (p.Lys2431Thr)
c.7169A>C (p.Lys2390Thr)
n.1419A>C
c.4775A>C (p.Lys1592Thr)
c.7388A>C (p.Lys2463Thr)
c.5198A>C (p.Lys1733Thr)
c.4874A>C (p.Lys1625Thr)
11g.118503184A>GCA382804992KMT2Ac.7391A>G (p.Lys2464Arg)
c.7382A>G (p.Lys2461Arg)
c.1331A>G (p.Lys444Arg)
c.1589A>G (p.Lys530Arg)
c.7364A>G (p.Lys2455Arg)
c.7283A>G (p.Lys2428Arg)
n.6634A>G
c.7292A>G (p.Lys2431Arg)
c.7169A>G (p.Lys2390Arg)
n.1419A>G
c.4775A>G (p.Lys1592Arg)
c.7388A>G (p.Lys2463Arg)
c.5198A>G (p.Lys1733Arg)
c.4874A>G (p.Lys1625Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.118503184A>TCA382804993KMT2Ac.7391A>T (p.Lys2464Ile)
c.7382A>T (p.Lys2461Ile)
c.1331A>T (p.Lys444Ile)
c.1589A>T (p.Lys530Ile)
c.7364A>T (p.Lys2455Ile)
c.7283A>T (p.Lys2428Ile)
n.6634A>T
c.7292A>T (p.Lys2431Ile)
c.7169A>T (p.Lys2390Ile)
n.1419A>T
c.4775A>T (p.Lys1592Ile)
c.7388A>T (p.Lys2463Ile)
c.5198A>T (p.Lys1733Ile)
c.4874A>T (p.Lys1625Ile)
11g.118503185A=CA2003527529KMT2Ac.7392A= (p.Lys2464=)
c.7383A= (p.Lys2461=)
c.1332A= (p.Lys444=)
c.1590A= (p.Lys530=)
c.7365A= (p.Lys2455=)
c.7284A= (p.Lys2428=)
n.6635A=
c.7293A= (p.Lys2431=)
c.7170A= (p.Lys2390=)
n.1420A=
c.4776A= (p.Lys1592=)
c.7389A= (p.Lys2463=)
c.5199A= (p.Lys1733=)
c.4875A= (p.Lys1625=)
11g.118503185A>CCA382804995KMT2Ac.7392A>C (p.Lys2464Asn)
c.7383A>C (p.Lys2461Asn)
c.1332A>C (p.Lys444Asn)
c.1590A>C (p.Lys530Asn)
c.7365A>C (p.Lys2455Asn)
c.7284A>C (p.Lys2428Asn)
n.6635A>C
c.7293A>C (p.Lys2431Asn)
c.7170A>C (p.Lys2390Asn)
n.1420A>C
c.4776A>C (p.Lys1592Asn)
c.7389A>C (p.Lys2463Asn)
c.5199A>C (p.Lys1733Asn)
c.4875A>C (p.Lys1625Asn)
11g.118503185A>GCA477359286KMT2Ac.7392A>G (p.Lys2464=)
c.7383A>G (p.Lys2461=)
c.1332A>G (p.Lys444=)
c.1590A>G (p.Lys530=)
c.7365A>G (p.Lys2455=)
c.7284A>G (p.Lys2428=)
n.6635A>G
c.7293A>G (p.Lys2431=)
c.7170A>G (p.Lys2390=)
n.1420A>G
c.4776A>G (p.Lys1592=)
c.7389A>G (p.Lys2463=)
c.5199A>G (p.Lys1733=)
c.4875A>G (p.Lys1625=)
 dbSNP
11g.118503185A>TCA382804997KMT2Ac.7392A>T (p.Lys2464Asn)
c.7383A>T (p.Lys2461Asn)
c.1332A>T (p.Lys444Asn)
c.1590A>T (p.Lys530Asn)
c.7365A>T (p.Lys2455Asn)
c.7284A>T (p.Lys2428Asn)
n.6635A>T
c.7293A>T (p.Lys2431Asn)
c.7170A>T (p.Lys2390Asn)
n.1420A>T
c.4776A>T (p.Lys1592Asn)
c.7389A>T (p.Lys2463Asn)
c.5199A>T (p.Lys1733Asn)
c.4875A>T (p.Lys1625Asn)
11g.118503186G>ACA382804999KMT2Ac.7393G>A (p.Gly2465Arg)
c.7384G>A (p.Gly2462Arg)
c.1333G>A (p.Gly445Arg)
c.1591G>A (p.Gly531Arg)
c.7366G>A (p.Gly2456Arg)
c.7285G>A (p.Gly2429Arg)
n.6636G>A
c.7294G>A (p.Gly2432Arg)
c.7171G>A (p.Gly2391Arg)
n.1421G>A
c.4777G>A (p.Gly1593Arg)
c.7390G>A (p.Gly2464Arg)
c.5200G>A (p.Gly1734Arg)
c.4876G>A (p.Gly1626Arg)
 dbSNP
11g.118503186G>CCA382805001KMT2Ac.7393G>C (p.Gly2465Arg)
c.7384G>C (p.Gly2462Arg)
c.1333G>C (p.Gly445Arg)
c.1591G>C (p.Gly531Arg)
c.7366G>C (p.Gly2456Arg)
c.7285G>C (p.Gly2429Arg)
n.6636G>C
c.7294G>C (p.Gly2432Arg)
c.7171G>C (p.Gly2391Arg)
n.1421G>C
c.4777G>C (p.Gly1593Arg)
c.7390G>C (p.Gly2464Arg)
c.5200G>C (p.Gly1734Arg)
c.4876G>C (p.Gly1626Arg)
 gnomAD v4
11g.118503186G>TCA382805002KMT2Ac.7393G>T (p.Gly2465Trp)
c.7384G>T (p.Gly2462Trp)
c.1333G>T (p.Gly445Trp)
c.1591G>T (p.Gly531Trp)
c.7366G>T (p.Gly2456Trp)
c.7285G>T (p.Gly2429Trp)
n.6636G>T
c.7294G>T (p.Gly2432Trp)
c.7171G>T (p.Gly2391Trp)
n.1421G>T
c.4777G>T (p.Gly1593Trp)
c.7390G>T (p.Gly2464Trp)
c.5200G>T (p.Gly1734Trp)
c.4876G>T (p.Gly1626Trp)
11g.118503187G>ACA6304381KMT2Ac.7394G>A (p.Gly2465Glu)
c.7385G>A (p.Gly2462Glu)
c.1334G>A (p.Gly445Glu)
c.1592G>A (p.Gly531Glu)
c.7367G>A (p.Gly2456Glu)
c.7286G>A (p.Gly2429Glu)
n.6637G>A
c.7295G>A (p.Gly2432Glu)
c.7172G>A (p.Gly2391Glu)
n.1422G>A
c.4778G>A (p.Gly1593Glu)
c.7391G>A (p.Gly2464Glu)
c.5201G>A (p.Gly1734Glu)
c.4877G>A (p.Gly1626Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503187G>CCA382805005KMT2Ac.7394G>C (p.Gly2465Ala)
c.7385G>C (p.Gly2462Ala)
c.1334G>C (p.Gly445Ala)
c.1592G>C (p.Gly531Ala)
c.7367G>C (p.Gly2456Ala)
c.7286G>C (p.Gly2429Ala)
n.6637G>C
c.7295G>C (p.Gly2432Ala)
c.7172G>C (p.Gly2391Ala)
n.1422G>C
c.4778G>C (p.Gly1593Ala)
c.7391G>C (p.Gly2464Ala)
c.5201G>C (p.Gly1734Ala)
c.4877G>C (p.Gly1626Ala)
11g.118503187G=CA2003527535KMT2Ac.7394G= (p.Gly2465=)
c.7385G= (p.Gly2462=)
c.1334G= (p.Gly445=)
c.1592G= (p.Gly531=)
c.7367G= (p.Gly2456=)
c.7286G= (p.Gly2429=)
n.6637G=
c.7295G= (p.Gly2432=)
c.7172G= (p.Gly2391=)
n.1422G=
c.4778G= (p.Gly1593=)
c.7391G= (p.Gly2464=)
c.5201G= (p.Gly1734=)
c.4877G= (p.Gly1626=)
11g.118503187G>TCA382805006KMT2Ac.7394G>T (p.Gly2465Val)
c.7385G>T (p.Gly2462Val)
c.1334G>T (p.Gly445Val)
c.1592G>T (p.Gly531Val)
c.7367G>T (p.Gly2456Val)
c.7286G>T (p.Gly2429Val)
n.6637G>T
c.7295G>T (p.Gly2432Val)
c.7172G>T (p.Gly2391Val)
n.1422G>T
c.4778G>T (p.Gly1593Val)
c.7391G>T (p.Gly2464Val)
c.5201G>T (p.Gly1734Val)
c.4877G>T (p.Gly1626Val)
11g.118503188G>ACA477359288KMT2Ac.7395G>A (p.Gly2465=)
c.7386G>A (p.Gly2462=)
c.1335G>A (p.Gly445=)
c.1593G>A (p.Gly531=)
c.7368G>A (p.Gly2456=)
c.7287G>A (p.Gly2429=)
n.6638G>A
c.7296G>A (p.Gly2432=)
c.7173G>A (p.Gly2391=)
n.1423G>A
c.4779G>A (p.Gly1593=)
c.7392G>A (p.Gly2464=)
c.5202G>A (p.Gly1734=)
c.4878G>A (p.Gly1626=)
11g.118503188G>CCA477359289KMT2Ac.7395G>C (p.Gly2465=)
c.7386G>C (p.Gly2462=)
c.1335G>C (p.Gly445=)
c.1593G>C (p.Gly531=)
c.7368G>C (p.Gly2456=)
c.7287G>C (p.Gly2429=)
n.6638G>C
c.7296G>C (p.Gly2432=)
c.7173G>C (p.Gly2391=)
n.1423G>C
c.4779G>C (p.Gly1593=)
c.7392G>C (p.Gly2464=)
c.5202G>C (p.Gly1734=)
c.4878G>C (p.Gly1626=)
11g.118503188G>TCA477359290KMT2Ac.7395G>T (p.Gly2465=)
c.7386G>T (p.Gly2462=)
c.1335G>T (p.Gly445=)
c.1593G>T (p.Gly531=)
c.7368G>T (p.Gly2456=)
c.7287G>T (p.Gly2429=)
n.6638G>T
c.7296G>T (p.Gly2432=)
c.7173G>T (p.Gly2391=)
n.1423G>T
c.4779G>T (p.Gly1593=)
c.7392G>T (p.Gly2464=)
c.5202G>T (p.Gly1734=)
c.4878G>T (p.Gly1626=)
11g.118503189A>CCA382805009KMT2Ac.7396A>C (p.Lys2466Gln)
c.7387A>C (p.Lys2463Gln)
c.1336A>C (p.Lys446Gln)
c.1594A>C (p.Lys532Gln)
c.7369A>C (p.Lys2457Gln)
c.7288A>C (p.Lys2430Gln)
n.6639A>C
c.7297A>C (p.Lys2433Gln)
c.7174A>C (p.Lys2392Gln)
n.1424A>C
c.4780A>C (p.Lys1594Gln)
c.7393A>C (p.Lys2465Gln)
c.5203A>C (p.Lys1735Gln)
c.4879A>C (p.Lys1627Gln)
11g.118503189A>GCA382805011KMT2Ac.7396A>G (p.Lys2466Glu)
c.7387A>G (p.Lys2463Glu)
c.1336A>G (p.Lys446Glu)
c.1594A>G (p.Lys532Glu)
c.7369A>G (p.Lys2457Glu)
c.7288A>G (p.Lys2430Glu)
n.6639A>G
c.7297A>G (p.Lys2433Glu)
c.7174A>G (p.Lys2392Glu)
n.1424A>G
c.4780A>G (p.Lys1594Glu)
c.7393A>G (p.Lys2465Glu)
c.5203A>G (p.Lys1735Glu)
c.4879A>G (p.Lys1627Glu)
11g.118503189A>TCA382805008KMT2Ac.7396A>T (p.Lys2466Ter)
c.7387A>T (p.Lys2463Ter)
c.1336A>T (p.Lys446Ter)
c.1594A>T (p.Lys532Ter)
c.7369A>T (p.Lys2457Ter)
c.7288A>T (p.Lys2430Ter)
n.6639A>T
c.7297A>T (p.Lys2433Ter)
c.7174A>T (p.Lys2392Ter)
n.1424A>T
c.4780A>T (p.Lys1594Ter)
c.7393A>T (p.Lys2465Ter)
c.5203A>T (p.Lys1735Ter)
c.4879A>T (p.Lys1627Ter)
11g.118503194dupCA2580083615KMT2Ac.7401dup (p.Ser2468IlefsTer3)
c.7392dup (p.Ser2465IlefsTer3)
c.1341dup (p.Ser448IlefsTer3)
c.1599dup (p.Ser534IlefsTer3)
c.7374dup (p.Ser2459IlefsTer3)
c.7293dup (p.Ser2432IlefsTer3)
n.6644dup
c.7302dup (p.Ser2435IlefsTer3)
c.7179dup (p.Ser2394IlefsTer3)
n.1429dup
c.4785dup (p.Ser1596IlefsTer3)
c.7398dup (p.Ser2467IlefsTer3)
c.5208dup (p.Ser1737IlefsTer3)
c.4884dup (p.Ser1629IlefsTer3)
 ClinVar
11g.118503190A>CCA382805013KMT2Ac.7397A>C (p.Lys2466Thr)
c.7388A>C (p.Lys2463Thr)
c.1337A>C (p.Lys446Thr)
c.1595A>C (p.Lys532Thr)
c.7370A>C (p.Lys2457Thr)
c.7289A>C (p.Lys2430Thr)
n.6640A>C
c.7298A>C (p.Lys2433Thr)
c.7175A>C (p.Lys2392Thr)
n.1425A>C
c.4781A>C (p.Lys1594Thr)
c.7394A>C (p.Lys2465Thr)
c.5204A>C (p.Lys1735Thr)
c.4880A>C (p.Lys1627Thr)
11g.118503190A>GCA382805015KMT2Ac.7397A>G (p.Lys2466Arg)
c.7388A>G (p.Lys2463Arg)
c.1337A>G (p.Lys446Arg)
c.1595A>G (p.Lys532Arg)
c.7370A>G (p.Lys2457Arg)
c.7289A>G (p.Lys2430Arg)
n.6640A>G
c.7298A>G (p.Lys2433Arg)
c.7175A>G (p.Lys2392Arg)
n.1425A>G
c.4781A>G (p.Lys1594Arg)
c.7394A>G (p.Lys2465Arg)
c.5204A>G (p.Lys1735Arg)
c.4880A>G (p.Lys1627Arg)
11g.118503190A>TCA382805016KMT2Ac.7397A>T (p.Lys2466Ile)
c.7388A>T (p.Lys2463Ile)
c.1337A>T (p.Lys446Ile)
c.1595A>T (p.Lys532Ile)
c.7370A>T (p.Lys2457Ile)
c.7289A>T (p.Lys2430Ile)
n.6640A>T
c.7298A>T (p.Lys2433Ile)
c.7175A>T (p.Lys2392Ile)
n.1425A>T
c.4781A>T (p.Lys1594Ile)
c.7394A>T (p.Lys2465Ile)
c.5204A>T (p.Lys1735Ile)
c.4880A>T (p.Lys1627Ile)
11g.118503191A=CA2003527538KMT2Ac.7398A= (p.Lys2466=)
c.7389A= (p.Lys2463=)
c.1338A= (p.Lys446=)
c.1596A= (p.Lys532=)
c.7371A= (p.Lys2457=)
c.7290A= (p.Lys2430=)
n.6641A=
c.7299A= (p.Lys2433=)
c.7176A= (p.Lys2392=)
n.1426A=
c.4782A= (p.Lys1594=)
c.7395A= (p.Lys2465=)
c.5205A= (p.Lys1735=)
c.4881A= (p.Lys1627=)
11g.118503191A>CCA382805018KMT2Ac.7398A>C (p.Lys2466Asn)
c.7389A>C (p.Lys2463Asn)
c.1338A>C (p.Lys446Asn)
c.1596A>C (p.Lys532Asn)
c.7371A>C (p.Lys2457Asn)
c.7290A>C (p.Lys2430Asn)
n.6641A>C
c.7299A>C (p.Lys2433Asn)
c.7176A>C (p.Lys2392Asn)
n.1426A>C
c.4782A>C (p.Lys1594Asn)
c.7395A>C (p.Lys2465Asn)
c.5205A>C (p.Lys1735Asn)
c.4881A>C (p.Lys1627Asn)
 COSMIC COSMIC
11g.118503191A>GCA6304382KMT2Ac.7398A>G (p.Lys2466=)
c.7389A>G (p.Lys2463=)
c.1338A>G (p.Lys446=)
c.1596A>G (p.Lys532=)
c.7371A>G (p.Lys2457=)
c.7290A>G (p.Lys2430=)
n.6641A>G
c.7299A>G (p.Lys2433=)
c.7176A>G (p.Lys2392=)
n.1426A>G
c.4782A>G (p.Lys1594=)
c.7395A>G (p.Lys2465=)
c.5205A>G (p.Lys1735=)
c.4881A>G (p.Lys1627=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503191A>TCA382805020KMT2Ac.7398A>T (p.Lys2466Asn)
c.7389A>T (p.Lys2463Asn)
c.1338A>T (p.Lys446Asn)
c.1596A>T (p.Lys532Asn)
c.7371A>T (p.Lys2457Asn)
c.7290A>T (p.Lys2430Asn)
n.6641A>T
c.7299A>T (p.Lys2433Asn)
c.7176A>T (p.Lys2392Asn)
n.1426A>T
c.4782A>T (p.Lys1594Asn)
c.7395A>T (p.Lys2465Asn)
c.5205A>T (p.Lys1735Asn)
c.4881A>T (p.Lys1627Asn)
11g.118503192A>CCA382805025KMT2Ac.7399A>C (p.Lys2467Gln)
c.7390A>C (p.Lys2464Gln)
c.1339A>C (p.Lys447Gln)
c.1597A>C (p.Lys533Gln)
c.7372A>C (p.Lys2458Gln)
c.7291A>C (p.Lys2431Gln)
n.6642A>C
c.7300A>C (p.Lys2434Gln)
c.7177A>C (p.Lys2393Gln)
n.1427A>C
c.4783A>C (p.Lys1595Gln)
c.7396A>C (p.Lys2466Gln)
c.5206A>C (p.Lys1736Gln)
c.4882A>C (p.Lys1628Gln)
11g.118503192A>GCA382805022KMT2Ac.7399A>G (p.Lys2467Glu)
c.7390A>G (p.Lys2464Glu)
c.1339A>G (p.Lys447Glu)
c.1597A>G (p.Lys533Glu)
c.7372A>G (p.Lys2458Glu)
c.7291A>G (p.Lys2431Glu)
n.6642A>G
c.7300A>G (p.Lys2434Glu)
c.7177A>G (p.Lys2393Glu)
n.1427A>G
c.4783A>G (p.Lys1595Glu)
c.7396A>G (p.Lys2466Glu)
c.5206A>G (p.Lys1736Glu)
c.4882A>G (p.Lys1628Glu)
 COSMIC COSMIC
11g.118503192A>TCA382805024KMT2Ac.7399A>T (p.Lys2467Ter)
c.7390A>T (p.Lys2464Ter)
c.1339A>T (p.Lys447Ter)
c.1597A>T (p.Lys533Ter)
c.7372A>T (p.Lys2458Ter)
c.7291A>T (p.Lys2431Ter)
n.6642A>T
c.7300A>T (p.Lys2434Ter)
c.7177A>T (p.Lys2393Ter)
n.1427A>T
c.4783A>T (p.Lys1595Ter)
c.7396A>T (p.Lys2466Ter)
c.5206A>T (p.Lys1736Ter)
c.4882A>T (p.Lys1628Ter)
11g.118503193A>CCA382805027KMT2Ac.7400A>C (p.Lys2467Thr)
c.7391A>C (p.Lys2464Thr)
c.1340A>C (p.Lys447Thr)
c.1598A>C (p.Lys533Thr)
c.7373A>C (p.Lys2458Thr)
c.7292A>C (p.Lys2431Thr)
n.6643A>C
c.7301A>C (p.Lys2434Thr)
c.7178A>C (p.Lys2393Thr)
n.1428A>C
c.4784A>C (p.Lys1595Thr)
c.7397A>C (p.Lys2466Thr)
c.5207A>C (p.Lys1736Thr)
c.4883A>C (p.Lys1628Thr)
11g.118503193A>GCA382805028KMT2Ac.7400A>G (p.Lys2467Arg)
c.7391A>G (p.Lys2464Arg)
c.1340A>G (p.Lys447Arg)
c.1598A>G (p.Lys533Arg)
c.7373A>G (p.Lys2458Arg)
c.7292A>G (p.Lys2431Arg)
n.6643A>G
c.7301A>G (p.Lys2434Arg)
c.7178A>G (p.Lys2393Arg)
n.1428A>G
c.4784A>G (p.Lys1595Arg)
c.7397A>G (p.Lys2466Arg)
c.5207A>G (p.Lys1736Arg)
c.4883A>G (p.Lys1628Arg)
11g.118503193A>TCA382805030KMT2Ac.7400A>T (p.Lys2467Ile)
c.7391A>T (p.Lys2464Ile)
c.1340A>T (p.Lys447Ile)
c.1598A>T (p.Lys533Ile)
c.7373A>T (p.Lys2458Ile)
c.7292A>T (p.Lys2431Ile)
n.6643A>T
c.7301A>T (p.Lys2434Ile)
c.7178A>T (p.Lys2393Ile)
n.1428A>T
c.4784A>T (p.Lys1595Ile)
c.7397A>T (p.Lys2466Ile)
c.5207A>T (p.Lys1736Ile)
c.4883A>T (p.Lys1628Ile)
 ClinVar dbSNP
11g.118503194A=CA2003527547KMT2Ac.7401A= (p.Lys2467=)
c.7392A= (p.Lys2464=)
c.1341A= (p.Lys447=)
c.1599A= (p.Lys533=)
c.7374A= (p.Lys2458=)
c.7293A= (p.Lys2431=)
n.6644A=
c.7302A= (p.Lys2434=)
c.7179A= (p.Lys2393=)
n.1429A=
c.4785A= (p.Lys1595=)
c.7398A= (p.Lys2466=)
c.5208A= (p.Lys1736=)
c.4884A= (p.Lys1628=)
11g.118503194A>CCA382805031KMT2Ac.7401A>C (p.Lys2467Asn)
c.7392A>C (p.Lys2464Asn)
c.1341A>C (p.Lys447Asn)
c.1599A>C (p.Lys533Asn)
c.7374A>C (p.Lys2458Asn)
c.7293A>C (p.Lys2431Asn)
n.6644A>C
c.7302A>C (p.Lys2434Asn)
c.7179A>C (p.Lys2393Asn)
n.1429A>C
c.4785A>C (p.Lys1595Asn)
c.7398A>C (p.Lys2466Asn)
c.5208A>C (p.Lys1736Asn)
c.4884A>C (p.Lys1628Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.118503194A>GCA477359297KMT2Ac.7401A>G (p.Lys2467=)
c.7392A>G (p.Lys2464=)
c.1341A>G (p.Lys447=)
c.1599A>G (p.Lys533=)
c.7374A>G (p.Lys2458=)
c.7293A>G (p.Lys2431=)
n.6644A>G
c.7302A>G (p.Lys2434=)
c.7179A>G (p.Lys2393=)
n.1429A>G
c.4785A>G (p.Lys1595=)
c.7398A>G (p.Lys2466=)
c.5208A>G (p.Lys1736=)
c.4884A>G (p.Lys1628=)
 ClinVar
11g.118503194A>TCA382805032KMT2Ac.7401A>T (p.Lys2467Asn)
c.7392A>T (p.Lys2464Asn)
c.1341A>T (p.Lys447Asn)
c.1599A>T (p.Lys533Asn)
c.7374A>T (p.Lys2458Asn)
c.7293A>T (p.Lys2431Asn)
n.6644A>T
c.7302A>T (p.Lys2434Asn)
c.7179A>T (p.Lys2393Asn)
n.1429A>T
c.4785A>T (p.Lys1595Asn)
c.7398A>T (p.Lys2466Asn)
c.5208A>T (p.Lys1736Asn)
c.4884A>T (p.Lys1628Asn)
11g.118503195T>ACA382805034KMT2Ac.7402T>A (p.Ser2468Thr)
c.7393T>A (p.Ser2465Thr)
c.1342T>A (p.Ser448Thr)
c.1600T>A (p.Ser534Thr)
c.7375T>A (p.Ser2459Thr)
c.7294T>A (p.Ser2432Thr)
n.6645T>A
c.7303T>A (p.Ser2435Thr)
c.7180T>A (p.Ser2394Thr)
n.1430T>A
c.4786T>A (p.Ser1596Thr)
c.7399T>A (p.Ser2467Thr)
c.5209T>A (p.Ser1737Thr)
c.4885T>A (p.Ser1629Thr)
11g.118503195T>CCA382805037KMT2Ac.7402T>C (p.Ser2468Pro)
c.7393T>C (p.Ser2465Pro)
c.1342T>C (p.Ser448Pro)
c.1600T>C (p.Ser534Pro)
c.7375T>C (p.Ser2459Pro)
c.7294T>C (p.Ser2432Pro)
n.6645T>C
c.7303T>C (p.Ser2435Pro)
c.7180T>C (p.Ser2394Pro)
n.1430T>C
c.4786T>C (p.Ser1596Pro)
c.7399T>C (p.Ser2467Pro)
c.5209T>C (p.Ser1737Pro)
c.4885T>C (p.Ser1629Pro)
11g.118503195T>GCA382805035KMT2Ac.7402T>G (p.Ser2468Ala)
c.7393T>G (p.Ser2465Ala)
c.1342T>G (p.Ser448Ala)
c.1600T>G (p.Ser534Ala)
c.7375T>G (p.Ser2459Ala)
c.7294T>G (p.Ser2432Ala)
n.6645T>G
c.7303T>G (p.Ser2435Ala)
c.7180T>G (p.Ser2394Ala)
n.1430T>G
c.4786T>G (p.Ser1596Ala)
c.7399T>G (p.Ser2467Ala)
c.5209T>G (p.Ser1737Ala)
c.4885T>G (p.Ser1629Ala)
11g.118503196C>ACA382805038KMT2Ac.7403C>A (p.Ser2468Tyr)
c.7394C>A (p.Ser2465Tyr)
c.1343C>A (p.Ser448Tyr)
c.1601C>A (p.Ser534Tyr)
c.7376C>A (p.Ser2459Tyr)
c.7295C>A (p.Ser2432Tyr)
n.6646C>A
c.7304C>A (p.Ser2435Tyr)
c.7181C>A (p.Ser2394Tyr)
n.1431C>A
c.4787C>A (p.Ser1596Tyr)
c.7400C>A (p.Ser2467Tyr)
c.5210C>A (p.Ser1737Tyr)
c.4886C>A (p.Ser1629Tyr)
11g.118503196C=CA2003527554KMT2Ac.7403C= (p.Ser2468=)
c.7394C= (p.Ser2465=)
c.1343C= (p.Ser448=)
c.1601C= (p.Ser534=)
c.7376C= (p.Ser2459=)
c.7295C= (p.Ser2432=)
n.6646C=
c.7304C= (p.Ser2435=)
c.7181C= (p.Ser2394=)
n.1431C=
c.4787C= (p.Ser1596=)
c.7400C= (p.Ser2467=)
c.5210C= (p.Ser1737=)
c.4886C= (p.Ser1629=)
11g.118503196C>GCA6304383KMT2Ac.7403C>G (p.Ser2468Cys)
c.7394C>G (p.Ser2465Cys)
c.1343C>G (p.Ser448Cys)
c.1601C>G (p.Ser534Cys)
c.7376C>G (p.Ser2459Cys)
c.7295C>G (p.Ser2432Cys)
n.6646C>G
c.7304C>G (p.Ser2435Cys)
c.7181C>G (p.Ser2394Cys)
n.1431C>G
c.4787C>G (p.Ser1596Cys)
c.7400C>G (p.Ser2467Cys)
c.5210C>G (p.Ser1737Cys)
c.4886C>G (p.Ser1629Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503196C>TCA382805040KMT2Ac.7403C>T (p.Ser2468Phe)
c.7394C>T (p.Ser2465Phe)
c.1343C>T (p.Ser448Phe)
c.1601C>T (p.Ser534Phe)
c.7376C>T (p.Ser2459Phe)
c.7295C>T (p.Ser2432Phe)
n.6646C>T
c.7304C>T (p.Ser2435Phe)
c.7181C>T (p.Ser2394Phe)
n.1431C>T
c.4787C>T (p.Ser1596Phe)
c.7400C>T (p.Ser2467Phe)
c.5210C>T (p.Ser1737Phe)
c.4886C>T (p.Ser1629Phe)
11g.118503197C>ACA477359299KMT2Ac.7404C>A (p.Ser2468=)
c.7395C>A (p.Ser2465=)
c.1344C>A (p.Ser448=)
c.1602C>A (p.Ser534=)
c.7377C>A (p.Ser2459=)
c.7296C>A (p.Ser2432=)
n.6647C>A
c.7305C>A (p.Ser2435=)
c.7182C>A (p.Ser2394=)
n.1432C>A
c.4788C>A (p.Ser1596=)
c.7401C>A (p.Ser2467=)
c.5211C>A (p.Ser1737=)
c.4887C>A (p.Ser1629=)
11g.118503197C=CA2003527562KMT2Ac.7404C= (p.Ser2468=)
c.7395C= (p.Ser2465=)
c.1344C= (p.Ser448=)
c.1602C= (p.Ser534=)
c.7377C= (p.Ser2459=)
c.7296C= (p.Ser2432=)
n.6647C=
c.7305C= (p.Ser2435=)
c.7182C= (p.Ser2394=)
n.1432C=
c.4788C= (p.Ser1596=)
c.7401C= (p.Ser2467=)
c.5211C= (p.Ser1737=)
c.4887C= (p.Ser1629=)
11g.118503197C>GCA6304384KMT2Ac.7404C>G (p.Ser2468=)
c.7395C>G (p.Ser2465=)
c.1344C>G (p.Ser448=)
c.1602C>G (p.Ser534=)
c.7377C>G (p.Ser2459=)
c.7296C>G (p.Ser2432=)
n.6647C>G
c.7305C>G (p.Ser2435=)
c.7182C>G (p.Ser2394=)
n.1432C>G
c.4788C>G (p.Ser1596=)
c.7401C>G (p.Ser2467=)
c.5211C>G (p.Ser1737=)
c.4887C>G (p.Ser1629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503197C>TCA477359300KMT2Ac.7404C>T (p.Ser2468=)
c.7395C>T (p.Ser2465=)
c.1344C>T (p.Ser448=)
c.1602C>T (p.Ser534=)
c.7377C>T (p.Ser2459=)
c.7296C>T (p.Ser2432=)
n.6647C>T
c.7305C>T (p.Ser2435=)
c.7182C>T (p.Ser2394=)
n.1432C>T
c.4788C>T (p.Ser1596=)
c.7401C>T (p.Ser2467=)
c.5211C>T (p.Ser1737=)
c.4887C>T (p.Ser1629=)
 dbSNP
11g.118503198T>ACA382805043KMT2Ac.7405T>A (p.Cys2469Ser)
c.7396T>A (p.Cys2466Ser)
c.1345T>A (p.Cys449Ser)
c.1603T>A (p.Cys535Ser)
c.7378T>A (p.Cys2460Ser)
c.7297T>A (p.Cys2433Ser)
n.6648T>A
c.7306T>A (p.Cys2436Ser)
c.7183T>A (p.Cys2395Ser)
n.1433T>A
c.4789T>A (p.Cys1597Ser)
c.7402T>A (p.Cys2468Ser)
c.5212T>A (p.Cys1738Ser)
c.4888T>A (p.Cys1630Ser)
11g.118503198T>CCA382805044KMT2Ac.7405T>C (p.Cys2469Arg)
c.7396T>C (p.Cys2466Arg)
c.1345T>C (p.Cys449Arg)
c.1603T>C (p.Cys535Arg)
c.7378T>C (p.Cys2460Arg)
c.7297T>C (p.Cys2433Arg)
n.6648T>C
c.7306T>C (p.Cys2436Arg)
c.7183T>C (p.Cys2395Arg)
n.1433T>C
c.4789T>C (p.Cys1597Arg)
c.7402T>C (p.Cys2468Arg)
c.5212T>C (p.Cys1738Arg)
c.4888T>C (p.Cys1630Arg)
 dbSNP
11g.118503198T>GCA382805046KMT2Ac.7405T>G (p.Cys2469Gly)
c.7396T>G (p.Cys2466Gly)
c.1345T>G (p.Cys449Gly)
c.1603T>G (p.Cys535Gly)
c.7378T>G (p.Cys2460Gly)
c.7297T>G (p.Cys2433Gly)
n.6648T>G
c.7306T>G (p.Cys2436Gly)
c.7183T>G (p.Cys2395Gly)
n.1433T>G
c.4789T>G (p.Cys1597Gly)
c.7402T>G (p.Cys2468Gly)
c.5212T>G (p.Cys1738Gly)
c.4888T>G (p.Cys1630Gly)
11g.118503198T=CA2003527567KMT2Ac.7405T= (p.Cys2469=)
c.7396T= (p.Cys2466=)
c.1345T= (p.Cys449=)
c.1603T= (p.Cys535=)
c.7378T= (p.Cys2460=)
c.7297T= (p.Cys2433=)
n.6648T=
c.7306T= (p.Cys2436=)
c.7183T= (p.Cys2395=)
n.1433T=
c.4789T= (p.Cys1597=)
c.7402T= (p.Cys2468=)
c.5212T= (p.Cys1738=)
c.4888T= (p.Cys1630=)
11g.118503199G>ACA6304385KMT2Ac.7406G>A (p.Cys2469Tyr)
c.7397G>A (p.Cys2466Tyr)
c.1346G>A (p.Cys449Tyr)
c.1604G>A (p.Cys535Tyr)
c.7379G>A (p.Cys2460Tyr)
c.7298G>A (p.Cys2433Tyr)
n.6649G>A
c.7307G>A (p.Cys2436Tyr)
c.7184G>A (p.Cys2395Tyr)
n.1434G>A
c.4790G>A (p.Cys1597Tyr)
c.7403G>A (p.Cys2468Tyr)
c.5213G>A (p.Cys1738Tyr)
c.4889G>A (p.Cys1630Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503199G>CCA382805049KMT2Ac.7406G>C (p.Cys2469Ser)
c.7397G>C (p.Cys2466Ser)
c.1346G>C (p.Cys449Ser)
c.1604G>C (p.Cys535Ser)
c.7379G>C (p.Cys2460Ser)
c.7298G>C (p.Cys2433Ser)
n.6649G>C
c.7307G>C (p.Cys2436Ser)
c.7184G>C (p.Cys2395Ser)
n.1434G>C
c.4790G>C (p.Cys1597Ser)
c.7403G>C (p.Cys2468Ser)
c.5213G>C (p.Cys1738Ser)
c.4889G>C (p.Cys1630Ser)
11g.118503199G=CA2003527569KMT2Ac.7406G= (p.Cys2469=)
c.7397G= (p.Cys2466=)
c.1346G= (p.Cys449=)
c.1604G= (p.Cys535=)
c.7379G= (p.Cys2460=)
c.7298G= (p.Cys2433=)
n.6649G=
c.7307G= (p.Cys2436=)
c.7184G= (p.Cys2395=)
n.1434G=
c.4790G= (p.Cys1597=)
c.7403G= (p.Cys2468=)
c.5213G= (p.Cys1738=)
c.4889G= (p.Cys1630=)
11g.118503199G>TCA382805051KMT2Ac.7406G>T (p.Cys2469Phe)
c.7397G>T (p.Cys2466Phe)
c.1346G>T (p.Cys449Phe)
c.1604G>T (p.Cys535Phe)
c.7379G>T (p.Cys2460Phe)
c.7298G>T (p.Cys2433Phe)
n.6649G>T
c.7307G>T (p.Cys2436Phe)
c.7184G>T (p.Cys2395Phe)
n.1434G>T
c.4790G>T (p.Cys1597Phe)
c.7403G>T (p.Cys2468Phe)
c.5213G>T (p.Cys1738Phe)
c.4889G>T (p.Cys1630Phe)
11g.118503200T>ACA382805053KMT2Ac.7407T>A (p.Cys2469Ter)
c.7398T>A (p.Cys2466Ter)
c.1347T>A (p.Cys449Ter)
c.1605T>A (p.Cys535Ter)
c.7380T>A (p.Cys2460Ter)
c.7299T>A (p.Cys2433Ter)
n.6650T>A
c.7308T>A (p.Cys2436Ter)
c.7185T>A (p.Cys2395Ter)
n.1435T>A
c.4791T>A (p.Cys1597Ter)
c.7404T>A (p.Cys2468Ter)
c.5214T>A (p.Cys1738Ter)
c.4890T>A (p.Cys1630Ter)
11g.118503200T>CCA477359302KMT2Ac.7407T>C (p.Cys2469=)
c.7398T>C (p.Cys2466=)
c.1347T>C (p.Cys449=)
c.1605T>C (p.Cys535=)
c.7380T>C (p.Cys2460=)
c.7299T>C (p.Cys2433=)
n.6650T>C
c.7308T>C (p.Cys2436=)
c.7185T>C (p.Cys2395=)
n.1435T>C
c.4791T>C (p.Cys1597=)
c.7404T>C (p.Cys2468=)
c.5214T>C (p.Cys1738=)
c.4890T>C (p.Cys1630=)
11g.118503200T>GCA382805054KMT2Ac.7407T>G (p.Cys2469Trp)
c.7398T>G (p.Cys2466Trp)
c.1347T>G (p.Cys449Trp)
c.1605T>G (p.Cys535Trp)
c.7380T>G (p.Cys2460Trp)
c.7299T>G (p.Cys2433Trp)
n.6650T>G
c.7308T>G (p.Cys2436Trp)
c.7185T>G (p.Cys2395Trp)
n.1435T>G
c.4791T>G (p.Cys1597Trp)
c.7404T>G (p.Cys2468Trp)
c.5214T>G (p.Cys1738Trp)
c.4890T>G (p.Cys1630Trp)
11g.118503201A>CCA382805056KMT2Ac.7408A>C (p.Lys2470Gln)
c.7399A>C (p.Lys2467Gln)
c.1348A>C (p.Lys450Gln)
c.1606A>C (p.Lys536Gln)
c.7381A>C (p.Lys2461Gln)
c.7300A>C (p.Lys2434Gln)
n.6651A>C
c.7309A>C (p.Lys2437Gln)
c.7186A>C (p.Lys2396Gln)
n.1436A>C
c.4792A>C (p.Lys1598Gln)
c.7405A>C (p.Lys2469Gln)
c.5215A>C (p.Lys1739Gln)
c.4891A>C (p.Lys1631Gln)
11g.118503201A>GCA382805060KMT2Ac.7408A>G (p.Lys2470Glu)
c.7399A>G (p.Lys2467Glu)
c.1348A>G (p.Lys450Glu)
c.1606A>G (p.Lys536Glu)
c.7381A>G (p.Lys2461Glu)
c.7300A>G (p.Lys2434Glu)
n.6651A>G
c.7309A>G (p.Lys2437Glu)
c.7186A>G (p.Lys2396Glu)
n.1436A>G
c.4792A>G (p.Lys1598Glu)
c.7405A>G (p.Lys2469Glu)
c.5215A>G (p.Lys1739Glu)
c.4891A>G (p.Lys1631Glu)
11g.118503201A>TCA382805058KMT2Ac.7408A>T (p.Lys2470Ter)
c.7399A>T (p.Lys2467Ter)
c.1348A>T (p.Lys450Ter)
c.1606A>T (p.Lys536Ter)
c.7381A>T (p.Lys2461Ter)
c.7300A>T (p.Lys2434Ter)
n.6651A>T
c.7309A>T (p.Lys2437Ter)
c.7186A>T (p.Lys2396Ter)
n.1436A>T
c.4792A>T (p.Lys1598Ter)
c.7405A>T (p.Lys2469Ter)
c.5215A>T (p.Lys1739Ter)
c.4891A>T (p.Lys1631Ter)
11g.118503208_118503219delCA2725086117KMT2Ac.7415_7426del (p.Thr2472_Glu2475del)
c.7406_7417del (p.Thr2469_Glu2472del)
c.1355_1366del (p.Thr452_Glu455del)
c.1613_1624del (p.Thr538_Glu541del)
c.7388_7399del (p.Thr2463_Glu2466del)
c.7307_7318del (p.Thr2436_Glu2439del)
n.6658_6669del
c.7316_7327del (p.Thr2439_Glu2442del)
c.7193_7204del (p.Thr2398_Glu2401del)
n.1443_1454del
c.4799_4810del (p.Thr1600_Glu1603del)
c.7412_7423del (p.Thr2471_Glu2474del)
c.5222_5233del (p.Thr1741_Glu1744del)
c.4898_4909del (p.Thr1633_Glu1636del)
 dbSNP
11g.118503202A=CA2003527573KMT2Ac.7409A= (p.Lys2470=)
c.7400A= (p.Lys2467=)
c.1349A= (p.Lys450=)
c.1607A= (p.Lys536=)
c.7382A= (p.Lys2461=)
c.7301A= (p.Lys2434=)
n.6652A=
c.7310A= (p.Lys2437=)
c.7187A= (p.Lys2396=)
n.1437A=
c.4793A= (p.Lys1598=)
c.7406A= (p.Lys2469=)
c.5216A= (p.Lys1739=)
c.4892A= (p.Lys1631=)
11g.118503202A>CCA382805062KMT2Ac.7409A>C (p.Lys2470Thr)
c.7400A>C (p.Lys2467Thr)
c.1349A>C (p.Lys450Thr)
c.1607A>C (p.Lys536Thr)
c.7382A>C (p.Lys2461Thr)
c.7301A>C (p.Lys2434Thr)
n.6652A>C
c.7310A>C (p.Lys2437Thr)
c.7187A>C (p.Lys2396Thr)
n.1437A>C
c.4793A>C (p.Lys1598Thr)
c.7406A>C (p.Lys2469Thr)
c.5216A>C (p.Lys1739Thr)
c.4892A>C (p.Lys1631Thr)
11g.118503202A>GCA6304386KMT2Ac.7409A>G (p.Lys2470Arg)
c.7400A>G (p.Lys2467Arg)
c.1349A>G (p.Lys450Arg)
c.1607A>G (p.Lys536Arg)
c.7382A>G (p.Lys2461Arg)
c.7301A>G (p.Lys2434Arg)
n.6652A>G
c.7310A>G (p.Lys2437Arg)
c.7187A>G (p.Lys2396Arg)
n.1437A>G
c.4793A>G (p.Lys1598Arg)
c.7406A>G (p.Lys2469Arg)
c.5216A>G (p.Lys1739Arg)
c.4892A>G (p.Lys1631Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503202A>TCA382805063KMT2Ac.7409A>T (p.Lys2470Ile)
c.7400A>T (p.Lys2467Ile)
c.1349A>T (p.Lys450Ile)
c.1607A>T (p.Lys536Ile)
c.7382A>T (p.Lys2461Ile)
c.7301A>T (p.Lys2434Ile)
n.6652A>T
c.7310A>T (p.Lys2437Ile)
c.7187A>T (p.Lys2396Ile)
n.1437A>T
c.4793A>T (p.Lys1598Ile)
c.7406A>T (p.Lys2469Ile)
c.5216A>T (p.Lys1739Ile)
c.4892A>T (p.Lys1631Ile)
11g.118503203A>CCA382805066KMT2Ac.7410A>C (p.Lys2470Asn)
c.7401A>C (p.Lys2467Asn)
c.1350A>C (p.Lys450Asn)
c.1608A>C (p.Lys536Asn)
c.7383A>C (p.Lys2461Asn)
c.7302A>C (p.Lys2434Asn)
n.6653A>C
c.7311A>C (p.Lys2437Asn)
c.7188A>C (p.Lys2396Asn)
n.1438A>C
c.4794A>C (p.Lys1598Asn)
c.7407A>C (p.Lys2469Asn)
c.5217A>C (p.Lys1739Asn)
c.4893A>C (p.Lys1631Asn)
11g.118503203A>GCA477359305KMT2Ac.7410A>G (p.Lys2470=)
c.7401A>G (p.Lys2467=)
c.1350A>G (p.Lys450=)
c.1608A>G (p.Lys536=)
c.7383A>G (p.Lys2461=)
c.7302A>G (p.Lys2434=)
n.6653A>G
c.7311A>G (p.Lys2437=)
c.7188A>G (p.Lys2396=)
n.1438A>G
c.4794A>G (p.Lys1598=)
c.7407A>G (p.Lys2469=)
c.5217A>G (p.Lys1739=)
c.4893A>G (p.Lys1631=)
11g.118503203A>TCA382805067KMT2Ac.7410A>T (p.Lys2470Asn)
c.7401A>T (p.Lys2467Asn)
c.1350A>T (p.Lys450Asn)
c.1608A>T (p.Lys536Asn)
c.7383A>T (p.Lys2461Asn)
c.7302A>T (p.Lys2434Asn)
n.6653A>T
c.7311A>T (p.Lys2437Asn)
c.7188A>T (p.Lys2396Asn)
n.1438A>T
c.4794A>T (p.Lys1598Asn)
c.7407A>T (p.Lys2469Asn)
c.5217A>T (p.Lys1739Asn)
c.4893A>T (p.Lys1631Asn)
11g.118503204G>ACA382805069KMT2Ac.7411G>A (p.Glu2471Lys)
c.7402G>A (p.Glu2468Lys)
c.1351G>A (p.Glu451Lys)
c.1609G>A (p.Glu537Lys)
c.7384G>A (p.Glu2462Lys)
c.7303G>A (p.Glu2435Lys)
n.6654G>A
c.7312G>A (p.Glu2438Lys)
c.7189G>A (p.Glu2397Lys)
n.1439G>A
c.4795G>A (p.Glu1599Lys)
c.7408G>A (p.Glu2470Lys)
c.5218G>A (p.Glu1740Lys)
c.4894G>A (p.Glu1632Lys)
11g.118503204G>CCA382805071KMT2Ac.7411G>C (p.Glu2471Gln)
c.7402G>C (p.Glu2468Gln)
c.1351G>C (p.Glu451Gln)
c.1609G>C (p.Glu537Gln)
c.7384G>C (p.Glu2462Gln)
c.7303G>C (p.Glu2435Gln)
n.6654G>C
c.7312G>C (p.Glu2438Gln)
c.7189G>C (p.Glu2397Gln)
n.1439G>C
c.4795G>C (p.Glu1599Gln)
c.7408G>C (p.Glu2470Gln)
c.5218G>C (p.Glu1740Gln)
c.4894G>C (p.Glu1632Gln)
11g.118503204G>TCA382805070KMT2Ac.7411G>T (p.Glu2471Ter)
c.7402G>T (p.Glu2468Ter)
c.1351G>T (p.Glu451Ter)
c.1609G>T (p.Glu537Ter)
c.7384G>T (p.Glu2462Ter)
c.7303G>T (p.Glu2435Ter)
n.6654G>T
c.7312G>T (p.Glu2438Ter)
c.7189G>T (p.Glu2397Ter)
n.1439G>T
c.4795G>T (p.Glu1599Ter)
c.7408G>T (p.Glu2470Ter)
c.5218G>T (p.Glu1740Ter)
c.4894G>T (p.Glu1632Ter)
11g.118503205A>CCA382805072KMT2Ac.7412A>C (p.Glu2471Ala)
c.7403A>C (p.Glu2468Ala)
c.1352A>C (p.Glu451Ala)
c.1610A>C (p.Glu537Ala)
c.7385A>C (p.Glu2462Ala)
c.7304A>C (p.Glu2435Ala)
n.6655A>C
c.7313A>C (p.Glu2438Ala)
c.7190A>C (p.Glu2397Ala)
n.1440A>C
c.4796A>C (p.Glu1599Ala)
c.7409A>C (p.Glu2470Ala)
c.5219A>C (p.Glu1740Ala)
c.4895A>C (p.Glu1632Ala)
11g.118503205A>GCA382805073KMT2Ac.7412A>G (p.Glu2471Gly)
c.7403A>G (p.Glu2468Gly)
c.1352A>G (p.Glu451Gly)
c.1610A>G (p.Glu537Gly)
c.7385A>G (p.Glu2462Gly)
c.7304A>G (p.Glu2435Gly)
n.6655A>G
c.7313A>G (p.Glu2438Gly)
c.7190A>G (p.Glu2397Gly)
n.1440A>G
c.4796A>G (p.Glu1599Gly)
c.7409A>G (p.Glu2470Gly)
c.5219A>G (p.Glu1740Gly)
c.4895A>G (p.Glu1632Gly)
11g.118503205A>TCA382805075KMT2Ac.7412A>T (p.Glu2471Val)
c.7403A>T (p.Glu2468Val)
c.1352A>T (p.Glu451Val)
c.1610A>T (p.Glu537Val)
c.7385A>T (p.Glu2462Val)
c.7304A>T (p.Glu2435Val)
n.6655A>T
c.7313A>T (p.Glu2438Val)
c.7190A>T (p.Glu2397Val)
n.1440A>T
c.4796A>T (p.Glu1599Val)
c.7409A>T (p.Glu2470Val)
c.5219A>T (p.Glu1740Val)
c.4895A>T (p.Glu1632Val)
11g.118503206A>CCA382805076KMT2Ac.7413A>C (p.Glu2471Asp)
c.7404A>C (p.Glu2468Asp)
c.1353A>C (p.Glu451Asp)
c.1611A>C (p.Glu537Asp)
c.7386A>C (p.Glu2462Asp)
c.7305A>C (p.Glu2435Asp)
n.6656A>C
c.7314A>C (p.Glu2438Asp)
c.7191A>C (p.Glu2397Asp)
n.1441A>C
c.4797A>C (p.Glu1599Asp)
c.7410A>C (p.Glu2470Asp)
c.5220A>C (p.Glu1740Asp)
c.4896A>C (p.Glu1632Asp)
11g.118503206A>GCA477359310KMT2Ac.7413A>G (p.Glu2471=)
c.7404A>G (p.Glu2468=)
c.1353A>G (p.Glu451=)
c.1611A>G (p.Glu537=)
c.7386A>G (p.Glu2462=)
c.7305A>G (p.Glu2435=)
n.6656A>G
c.7314A>G (p.Glu2438=)
c.7191A>G (p.Glu2397=)
n.1441A>G
c.4797A>G (p.Glu1599=)
c.7410A>G (p.Glu2470=)
c.5220A>G (p.Glu1740=)
c.4896A>G (p.Glu1632=)
11g.118503206A>TCA382805077KMT2Ac.7413A>T (p.Glu2471Asp)
c.7404A>T (p.Glu2468Asp)
c.1353A>T (p.Glu451Asp)
c.1611A>T (p.Glu537Asp)
c.7386A>T (p.Glu2462Asp)
c.7305A>T (p.Glu2435Asp)
n.6656A>T
c.7314A>T (p.Glu2438Asp)
c.7191A>T (p.Glu2397Asp)
n.1441A>T
c.4797A>T (p.Glu1599Asp)
c.7410A>T (p.Glu2470Asp)
c.5220A>T (p.Glu1740Asp)
c.4896A>T (p.Glu1632Asp)
11g.118503207A>CCA382805079KMT2Ac.7414A>C (p.Thr2472Pro)
c.7405A>C (p.Thr2469Pro)
c.1354A>C (p.Thr452Pro)
c.1612A>C (p.Thr538Pro)
c.7387A>C (p.Thr2463Pro)
c.7306A>C (p.Thr2436Pro)
n.6657A>C
c.7315A>C (p.Thr2439Pro)
c.7192A>C (p.Thr2398Pro)
n.1442A>C
c.4798A>C (p.Thr1600Pro)
c.7411A>C (p.Thr2471Pro)
c.5221A>C (p.Thr1741Pro)
c.4897A>C (p.Thr1633Pro)
11g.118503207A>GCA382805081KMT2Ac.7414A>G (p.Thr2472Ala)
c.7405A>G (p.Thr2469Ala)
c.1354A>G (p.Thr452Ala)
c.1612A>G (p.Thr538Ala)
c.7387A>G (p.Thr2463Ala)
c.7306A>G (p.Thr2436Ala)
n.6657A>G
c.7315A>G (p.Thr2439Ala)
c.7192A>G (p.Thr2398Ala)
n.1442A>G
c.4798A>G (p.Thr1600Ala)
c.7411A>G (p.Thr2471Ala)
c.5221A>G (p.Thr1741Ala)
c.4897A>G (p.Thr1633Ala)
11g.118503207A>TCA382805082KMT2Ac.7414A>T (p.Thr2472Ser)
c.7405A>T (p.Thr2469Ser)
c.1354A>T (p.Thr452Ser)
c.1612A>T (p.Thr538Ser)
c.7387A>T (p.Thr2463Ser)
c.7306A>T (p.Thr2436Ser)
n.6657A>T
c.7315A>T (p.Thr2439Ser)
c.7192A>T (p.Thr2398Ser)
n.1442A>T
c.4798A>T (p.Thr1600Ser)
c.7411A>T (p.Thr2471Ser)
c.5221A>T (p.Thr1741Ser)
c.4897A>T (p.Thr1633Ser)
 gnomAD v4
11g.118503208C>ACA382805083KMT2Ac.7415C>A (p.Thr2472Asn)
c.7406C>A (p.Thr2469Asn)
c.1355C>A (p.Thr452Asn)
c.1613C>A (p.Thr538Asn)
c.7388C>A (p.Thr2463Asn)
c.7307C>A (p.Thr2436Asn)
n.6658C>A
c.7316C>A (p.Thr2439Asn)
c.7193C>A (p.Thr2398Asn)
n.1443C>A
c.4799C>A (p.Thr1600Asn)
c.7412C>A (p.Thr2471Asn)
c.5222C>A (p.Thr1741Asn)
c.4898C>A (p.Thr1633Asn)
11g.118503208C>GCA382805084KMT2Ac.7415C>G (p.Thr2472Ser)
c.7406C>G (p.Thr2469Ser)
c.1355C>G (p.Thr452Ser)
c.1613C>G (p.Thr538Ser)
c.7388C>G (p.Thr2463Ser)
c.7307C>G (p.Thr2436Ser)
n.6658C>G
c.7316C>G (p.Thr2439Ser)
c.7193C>G (p.Thr2398Ser)
n.1443C>G
c.4799C>G (p.Thr1600Ser)
c.7412C>G (p.Thr2471Ser)
c.5222C>G (p.Thr1741Ser)
c.4898C>G (p.Thr1633Ser)
11g.118503208C>TCA382805085KMT2Ac.7415C>T (p.Thr2472Ile)
c.7406C>T (p.Thr2469Ile)
c.1355C>T (p.Thr452Ile)
c.1613C>T (p.Thr538Ile)
c.7388C>T (p.Thr2463Ile)
c.7307C>T (p.Thr2436Ile)
n.6658C>T
c.7316C>T (p.Thr2439Ile)
c.7193C>T (p.Thr2398Ile)
n.1443C>T
c.4799C>T (p.Thr1600Ile)
c.7412C>T (p.Thr2471Ile)
c.5222C>T (p.Thr1741Ile)
c.4898C>T (p.Thr1633Ile)
11g.118503209T>ACA477359314KMT2Ac.7416T>A (p.Thr2472=)
c.7407T>A (p.Thr2469=)
c.1356T>A (p.Thr452=)
c.1614T>A (p.Thr538=)
c.7389T>A (p.Thr2463=)
c.7308T>A (p.Thr2436=)
n.6659T>A
c.7317T>A (p.Thr2439=)
c.7194T>A (p.Thr2398=)
n.1444T>A
c.4800T>A (p.Thr1600=)
c.7413T>A (p.Thr2471=)
c.5223T>A (p.Thr1741=)
c.4899T>A (p.Thr1633=)
11g.118503209T>CCA477359312KMT2Ac.7416T>C (p.Thr2472=)
c.7407T>C (p.Thr2469=)
c.1356T>C (p.Thr452=)
c.1614T>C (p.Thr538=)
c.7389T>C (p.Thr2463=)
c.7308T>C (p.Thr2436=)
n.6659T>C
c.7317T>C (p.Thr2439=)
c.7194T>C (p.Thr2398=)
n.1444T>C
c.4800T>C (p.Thr1600=)
c.7413T>C (p.Thr2471=)
c.5223T>C (p.Thr1741=)
c.4899T>C (p.Thr1633=)
11g.118503209T>GCA477359313KMT2Ac.7416T>G (p.Thr2472=)
c.7407T>G (p.Thr2469=)
c.1356T>G (p.Thr452=)
c.1614T>G (p.Thr538=)
c.7389T>G (p.Thr2463=)
c.7308T>G (p.Thr2436=)
n.6659T>G
c.7317T>G (p.Thr2439=)
c.7194T>G (p.Thr2398=)
n.1444T>G
c.4800T>G (p.Thr1600=)
c.7413T>G (p.Thr2471=)
c.5223T>G (p.Thr1741=)
c.4899T>G (p.Thr1633=)
11g.118503210T>ACA382805090KMT2Ac.7417T>A (p.Phe2473Ile)
c.7408T>A (p.Phe2470Ile)
c.1357T>A (p.Phe453Ile)
c.1615T>A (p.Phe539Ile)
c.7390T>A (p.Phe2464Ile)
c.7309T>A (p.Phe2437Ile)
n.6660T>A
c.7318T>A (p.Phe2440Ile)
c.7195T>A (p.Phe2399Ile)
n.1445T>A
c.4801T>A (p.Phe1601Ile)
c.7414T>A (p.Phe2472Ile)
c.5224T>A (p.Phe1742Ile)
c.4900T>A (p.Phe1634Ile)
11g.118503210T>CCA382805087KMT2Ac.7417T>C (p.Phe2473Leu)
c.7408T>C (p.Phe2470Leu)
c.1357T>C (p.Phe453Leu)
c.1615T>C (p.Phe539Leu)
c.7390T>C (p.Phe2464Leu)
c.7309T>C (p.Phe2437Leu)
n.6660T>C
c.7318T>C (p.Phe2440Leu)
c.7195T>C (p.Phe2399Leu)
n.1445T>C
c.4801T>C (p.Phe1601Leu)
c.7414T>C (p.Phe2472Leu)
c.5224T>C (p.Phe1742Leu)
c.4900T>C (p.Phe1634Leu)
11g.118503210T>GCA382805089KMT2Ac.7417T>G (p.Phe2473Val)
c.7408T>G (p.Phe2470Val)
c.1357T>G (p.Phe453Val)
c.1615T>G (p.Phe539Val)
c.7390T>G (p.Phe2464Val)
c.7309T>G (p.Phe2437Val)
n.6660T>G
c.7318T>G (p.Phe2440Val)
c.7195T>G (p.Phe2399Val)
n.1445T>G
c.4801T>G (p.Phe1601Val)
c.7414T>G (p.Phe2472Val)
c.5224T>G (p.Phe1742Val)
c.4900T>G (p.Phe1634Val)
 dbSNP
11g.118503210T=CA2003527577KMT2Ac.7417T= (p.Phe2473=)
c.7408T= (p.Phe2470=)
c.1357T= (p.Phe453=)
c.1615T= (p.Phe539=)
c.7390T= (p.Phe2464=)
c.7309T= (p.Phe2437=)
n.6660T=
c.7318T= (p.Phe2440=)
c.7195T= (p.Phe2399=)
n.1445T=
c.4801T= (p.Phe1601=)
c.7414T= (p.Phe2472=)
c.5224T= (p.Phe1742=)
c.4900T= (p.Phe1634=)
11g.118503211T>ACA6304387KMT2Ac.7418T>A (p.Phe2473Tyr)
c.7409T>A (p.Phe2470Tyr)
c.1358T>A (p.Phe453Tyr)
c.1616T>A (p.Phe539Tyr)
c.7391T>A (p.Phe2464Tyr)
c.7310T>A (p.Phe2437Tyr)
n.6661T>A
c.7319T>A (p.Phe2440Tyr)
c.7196T>A (p.Phe2399Tyr)
n.1446T>A
c.4802T>A (p.Phe1601Tyr)
c.7415T>A (p.Phe2472Tyr)
c.5225T>A (p.Phe1742Tyr)
c.4901T>A (p.Phe1634Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503211T>CCA382805093KMT2Ac.7418T>C (p.Phe2473Ser)
c.7409T>C (p.Phe2470Ser)
c.1358T>C (p.Phe453Ser)
c.1616T>C (p.Phe539Ser)
c.7391T>C (p.Phe2464Ser)
c.7310T>C (p.Phe2437Ser)
n.6661T>C
c.7319T>C (p.Phe2440Ser)
c.7196T>C (p.Phe2399Ser)
n.1446T>C
c.4802T>C (p.Phe1601Ser)
c.7415T>C (p.Phe2472Ser)
c.5225T>C (p.Phe1742Ser)
c.4901T>C (p.Phe1634Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.118503211T>GCA382805094KMT2Ac.7418T>G (p.Phe2473Cys)
c.7409T>G (p.Phe2470Cys)
c.1358T>G (p.Phe453Cys)
c.1616T>G (p.Phe539Cys)
c.7391T>G (p.Phe2464Cys)
c.7310T>G (p.Phe2437Cys)
n.6661T>G
c.7319T>G (p.Phe2440Cys)
c.7196T>G (p.Phe2399Cys)
n.1446T>G
c.4802T>G (p.Phe1601Cys)
c.7415T>G (p.Phe2472Cys)
c.5225T>G (p.Phe1742Cys)
c.4901T>G (p.Phe1634Cys)
11g.118503211T=CA2003527583KMT2Ac.7418T= (p.Phe2473=)
c.7409T= (p.Phe2470=)
c.1358T= (p.Phe453=)
c.1616T= (p.Phe539=)
c.7391T= (p.Phe2464=)
c.7310T= (p.Phe2437=)
n.6661T=
c.7319T= (p.Phe2440=)
c.7196T= (p.Phe2399=)
n.1446T=
c.4802T= (p.Phe1601=)
c.7415T= (p.Phe2472=)
c.5225T= (p.Phe1742=)
c.4901T= (p.Phe1634=)
11g.118503212C>ACA382805096KMT2Ac.7419C>A (p.Phe2473Leu)
c.7410C>A (p.Phe2470Leu)
c.1359C>A (p.Phe453Leu)
c.1617C>A (p.Phe539Leu)
c.7392C>A (p.Phe2464Leu)
c.7311C>A (p.Phe2437Leu)
n.6662C>A
c.7320C>A (p.Phe2440Leu)
c.7197C>A (p.Phe2399Leu)
n.1447C>A
c.4803C>A (p.Phe1601Leu)
c.7416C>A (p.Phe2472Leu)
c.5226C>A (p.Phe1742Leu)
c.4902C>A (p.Phe1634Leu)
 gnomAD v4
11g.118503212C=CA2003527587KMT2Ac.7419C= (p.Phe2473=)
c.7410C= (p.Phe2470=)
c.1359C= (p.Phe453=)
c.1617C= (p.Phe539=)
c.7392C= (p.Phe2464=)
c.7311C= (p.Phe2437=)
n.6662C=
c.7320C= (p.Phe2440=)
c.7197C= (p.Phe2399=)
n.1447C=
c.4803C= (p.Phe1601=)
c.7416C= (p.Phe2472=)
c.5226C= (p.Phe1742=)
c.4902C= (p.Phe1634=)
11g.118503212C>GCA382805098KMT2Ac.7419C>G (p.Phe2473Leu)
c.7410C>G (p.Phe2470Leu)
c.1359C>G (p.Phe453Leu)
c.1617C>G (p.Phe539Leu)
c.7392C>G (p.Phe2464Leu)
c.7311C>G (p.Phe2437Leu)
n.6662C>G
c.7320C>G (p.Phe2440Leu)
c.7197C>G (p.Phe2399Leu)
n.1447C>G
c.4803C>G (p.Phe1601Leu)
c.7416C>G (p.Phe2472Leu)
c.5226C>G (p.Phe1742Leu)
c.4902C>G (p.Phe1634Leu)
 dbSNP gnomAD v4
11g.118503212C>TCA477359316KMT2Ac.7419C>T (p.Phe2473=)
c.7410C>T (p.Phe2470=)
c.1359C>T (p.Phe453=)
c.1617C>T (p.Phe539=)
c.7392C>T (p.Phe2464=)
c.7311C>T (p.Phe2437=)
n.6662C>T
c.7320C>T (p.Phe2440=)
c.7197C>T (p.Phe2399=)
n.1447C>T
c.4803C>T (p.Phe1601=)
c.7416C>T (p.Phe2472=)
c.5226C>T (p.Phe1742=)
c.4902C>T (p.Phe1634=)
 dbSNP
11g.118503213A>CCA382805099KMT2Ac.7420A>C (p.Lys2474Gln)
c.7411A>C (p.Lys2471Gln)
c.1360A>C (p.Lys454Gln)
c.1618A>C (p.Lys540Gln)
c.7393A>C (p.Lys2465Gln)
c.7312A>C (p.Lys2438Gln)
n.6663A>C
c.7321A>C (p.Lys2441Gln)
c.7198A>C (p.Lys2400Gln)
n.1448A>C
c.4804A>C (p.Lys1602Gln)
c.7417A>C (p.Lys2473Gln)
c.5227A>C (p.Lys1743Gln)
c.4903A>C (p.Lys1635Gln)
11g.118503213A>GCA382805101KMT2Ac.7420A>G (p.Lys2474Glu)
c.7411A>G (p.Lys2471Glu)
c.1360A>G (p.Lys454Glu)
c.1618A>G (p.Lys540Glu)
c.7393A>G (p.Lys2465Glu)
c.7312A>G (p.Lys2438Glu)
n.6663A>G
c.7321A>G (p.Lys2441Glu)
c.7198A>G (p.Lys2400Glu)
n.1448A>G
c.4804A>G (p.Lys1602Glu)
c.7417A>G (p.Lys2473Glu)
c.5227A>G (p.Lys1743Glu)
c.4903A>G (p.Lys1635Glu)
11g.118503213A>TCA382805102KMT2Ac.7420A>T (p.Lys2474Ter)
c.7411A>T (p.Lys2471Ter)
c.1360A>T (p.Lys454Ter)
c.1618A>T (p.Lys540Ter)
c.7393A>T (p.Lys2465Ter)
c.7312A>T (p.Lys2438Ter)
n.6663A>T
c.7321A>T (p.Lys2441Ter)
c.7198A>T (p.Lys2400Ter)
n.1448A>T
c.4804A>T (p.Lys1602Ter)
c.7417A>T (p.Lys2473Ter)
c.5227A>T (p.Lys1743Ter)
c.4903A>T (p.Lys1635Ter)
11g.118503214A>CCA382805104KMT2Ac.7421A>C (p.Lys2474Thr)
c.7412A>C (p.Lys2471Thr)
c.1361A>C (p.Lys454Thr)
c.1619A>C (p.Lys540Thr)
c.7394A>C (p.Lys2465Thr)
c.7313A>C (p.Lys2438Thr)
n.6664A>C
c.7322A>C (p.Lys2441Thr)
c.7199A>C (p.Lys2400Thr)
n.1449A>C
c.4805A>C (p.Lys1602Thr)
c.7418A>C (p.Lys2473Thr)
c.5228A>C (p.Lys1743Thr)
c.4904A>C (p.Lys1635Thr)
11g.118503214A>GCA382805106KMT2Ac.7421A>G (p.Lys2474Arg)
c.7412A>G (p.Lys2471Arg)
c.1361A>G (p.Lys454Arg)
c.1619A>G (p.Lys540Arg)
c.7394A>G (p.Lys2465Arg)
c.7313A>G (p.Lys2438Arg)
n.6664A>G
c.7322A>G (p.Lys2441Arg)
c.7199A>G (p.Lys2400Arg)
n.1449A>G
c.4805A>G (p.Lys1602Arg)
c.7418A>G (p.Lys2473Arg)
c.5228A>G (p.Lys1743Arg)
c.4904A>G (p.Lys1635Arg)
11g.118503214A>TCA382805107KMT2Ac.7421A>T (p.Lys2474Ile)
c.7412A>T (p.Lys2471Ile)
c.1361A>T (p.Lys454Ile)
c.1619A>T (p.Lys540Ile)
c.7394A>T (p.Lys2465Ile)
c.7313A>T (p.Lys2438Ile)
n.6664A>T
c.7322A>T (p.Lys2441Ile)
c.7199A>T (p.Lys2400Ile)
n.1449A>T
c.4805A>T (p.Lys1602Ile)
c.7418A>T (p.Lys2473Ile)
c.5228A>T (p.Lys1743Ile)
c.4904A>T (p.Lys1635Ile)
11g.118503215A>CCA382805111KMT2Ac.7422A>C (p.Lys2474Asn)
c.7413A>C (p.Lys2471Asn)
c.1362A>C (p.Lys454Asn)
c.1620A>C (p.Lys540Asn)
c.7395A>C (p.Lys2465Asn)
c.7314A>C (p.Lys2438Asn)
n.6665A>C
c.7323A>C (p.Lys2441Asn)
c.7200A>C (p.Lys2400Asn)
n.1450A>C
c.4806A>C (p.Lys1602Asn)
c.7419A>C (p.Lys2473Asn)
c.5229A>C (p.Lys1743Asn)
c.4905A>C (p.Lys1635Asn)
11g.118503215A>GCA477359320KMT2Ac.7422A>G (p.Lys2474=)
c.7413A>G (p.Lys2471=)
c.1362A>G (p.Lys454=)
c.1620A>G (p.Lys540=)
c.7395A>G (p.Lys2465=)
c.7314A>G (p.Lys2438=)
n.6665A>G
c.7323A>G (p.Lys2441=)
c.7200A>G (p.Lys2400=)
n.1450A>G
c.4806A>G (p.Lys1602=)
c.7419A>G (p.Lys2473=)
c.5229A>G (p.Lys1743=)
c.4905A>G (p.Lys1635=)
11g.118503215A>TCA382805109KMT2Ac.7422A>T (p.Lys2474Asn)
c.7413A>T (p.Lys2471Asn)
c.1362A>T (p.Lys454Asn)
c.1620A>T (p.Lys540Asn)
c.7395A>T (p.Lys2465Asn)
c.7314A>T (p.Lys2438Asn)
n.6665A>T
c.7323A>T (p.Lys2441Asn)
c.7200A>T (p.Lys2400Asn)
n.1450A>T
c.4806A>T (p.Lys1602Asn)
c.7419A>T (p.Lys2473Asn)
c.5229A>T (p.Lys1743Asn)
c.4905A>T (p.Lys1635Asn)
11g.118503216G>ACA382805113KMT2Ac.7423G>A (p.Glu2475Lys)
c.7414G>A (p.Glu2472Lys)
c.1363G>A (p.Glu455Lys)
c.1621G>A (p.Glu541Lys)
c.7396G>A (p.Glu2466Lys)
c.7315G>A (p.Glu2439Lys)
n.6666G>A
c.7324G>A (p.Glu2442Lys)
c.7201G>A (p.Glu2401Lys)
n.1451G>A
c.4807G>A (p.Glu1603Lys)
c.7420G>A (p.Glu2474Lys)
c.5230G>A (p.Glu1744Lys)
c.4906G>A (p.Glu1636Lys)
 ClinVar gnomAD v4
11g.118503216G>CCA382805114KMT2Ac.7423G>C (p.Glu2475Gln)
c.7414G>C (p.Glu2472Gln)
c.1363G>C (p.Glu455Gln)
c.1621G>C (p.Glu541Gln)
c.7396G>C (p.Glu2466Gln)
c.7315G>C (p.Glu2439Gln)
n.6666G>C
c.7324G>C (p.Glu2442Gln)
c.7201G>C (p.Glu2401Gln)
n.1451G>C
c.4807G>C (p.Glu1603Gln)
c.7420G>C (p.Glu2474Gln)
c.5230G>C (p.Glu1744Gln)
c.4906G>C (p.Glu1636Gln)
 dbSNP
11g.118503216G>TCA382805116KMT2Ac.7423G>T (p.Glu2475Ter)
c.7414G>T (p.Glu2472Ter)
c.1363G>T (p.Glu455Ter)
c.1621G>T (p.Glu541Ter)
c.7396G>T (p.Glu2466Ter)
c.7315G>T (p.Glu2439Ter)
n.6666G>T
c.7324G>T (p.Glu2442Ter)
c.7201G>T (p.Glu2401Ter)
n.1451G>T
c.4807G>T (p.Glu1603Ter)
c.7420G>T (p.Glu2474Ter)
c.5230G>T (p.Glu1744Ter)
c.4906G>T (p.Glu1636Ter)
11g.118503217A=CA2003527591KMT2Ac.7424A= (p.Glu2475=)
c.7415A= (p.Glu2472=)
c.1364A= (p.Glu455=)
c.1622A= (p.Glu541=)
c.7397A= (p.Glu2466=)
c.7316A= (p.Glu2439=)
n.6667A=
c.7325A= (p.Glu2442=)
c.7202A= (p.Glu2401=)
n.1452A=
c.4808A= (p.Glu1603=)
c.7421A= (p.Glu2474=)
c.5231A= (p.Glu1744=)
c.4907A= (p.Glu1636=)
11g.118503217A>CCA382805118KMT2Ac.7424A>C (p.Glu2475Ala)
c.7415A>C (p.Glu2472Ala)
c.1364A>C (p.Glu455Ala)
c.1622A>C (p.Glu541Ala)
c.7397A>C (p.Glu2466Ala)
c.7316A>C (p.Glu2439Ala)
n.6667A>C
c.7325A>C (p.Glu2442Ala)
c.7202A>C (p.Glu2401Ala)
n.1452A>C
c.4808A>C (p.Glu1603Ala)
c.7421A>C (p.Glu2474Ala)
c.5231A>C (p.Glu1744Ala)
c.4907A>C (p.Glu1636Ala)
 COSMIC COSMIC
11g.118503217A>GCA6304388KMT2Ac.7424A>G (p.Glu2475Gly)
c.7415A>G (p.Glu2472Gly)
c.1364A>G (p.Glu455Gly)
c.1622A>G (p.Glu541Gly)
c.7397A>G (p.Glu2466Gly)
c.7316A>G (p.Glu2439Gly)
n.6667A>G
c.7325A>G (p.Glu2442Gly)
c.7202A>G (p.Glu2401Gly)
n.1452A>G
c.4808A>G (p.Glu1603Gly)
c.7421A>G (p.Glu2474Gly)
c.5231A>G (p.Glu1744Gly)
c.4907A>G (p.Glu1636Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503217A>TCA382805120KMT2Ac.7424A>T (p.Glu2475Val)
c.7415A>T (p.Glu2472Val)
c.1364A>T (p.Glu455Val)
c.1622A>T (p.Glu541Val)
c.7397A>T (p.Glu2466Val)
c.7316A>T (p.Glu2439Val)
n.6667A>T
c.7325A>T (p.Glu2442Val)
c.7202A>T (p.Glu2401Val)
n.1452A>T
c.4808A>T (p.Glu1603Val)
c.7421A>T (p.Glu2474Val)
c.5231A>T (p.Glu1744Val)
c.4907A>T (p.Glu1636Val)
11g.118503218A>CCA382805122KMT2Ac.7425A>C (p.Glu2475Asp)
c.7416A>C (p.Glu2472Asp)
c.1365A>C (p.Glu455Asp)
c.1623A>C (p.Glu541Asp)
c.7398A>C (p.Glu2466Asp)
c.7317A>C (p.Glu2439Asp)
n.6668A>C
c.7326A>C (p.Glu2442Asp)
c.7203A>C (p.Glu2401Asp)
n.1453A>C
c.4809A>C (p.Glu1603Asp)
c.7422A>C (p.Glu2474Asp)
c.5232A>C (p.Glu1744Asp)
c.4908A>C (p.Glu1636Asp)
11g.118503218A>GCA477359322KMT2Ac.7425A>G (p.Glu2475=)
c.7416A>G (p.Glu2472=)
c.1365A>G (p.Glu455=)
c.1623A>G (p.Glu541=)
c.7398A>G (p.Glu2466=)
c.7317A>G (p.Glu2439=)
n.6668A>G
c.7326A>G (p.Glu2442=)
c.7203A>G (p.Glu2401=)
n.1453A>G
c.4809A>G (p.Glu1603=)
c.7422A>G (p.Glu2474=)
c.5232A>G (p.Glu1744=)
c.4908A>G (p.Glu1636=)
11g.118503218A>TCA382805124KMT2Ac.7425A>T (p.Glu2475Asp)
c.7416A>T (p.Glu2472Asp)
c.1365A>T (p.Glu455Asp)
c.1623A>T (p.Glu541Asp)
c.7398A>T (p.Glu2466Asp)
c.7317A>T (p.Glu2439Asp)
n.6668A>T
c.7326A>T (p.Glu2442Asp)
c.7203A>T (p.Glu2401Asp)
n.1453A>T
c.4809A>T (p.Glu1603Asp)
c.7422A>T (p.Glu2474Asp)
c.5232A>T (p.Glu1744Asp)
c.4908A>T (p.Glu1636Asp)
11g.118503219A>CCA382805125KMT2Ac.7426A>C (p.Lys2476Gln)
c.7417A>C (p.Lys2473Gln)
c.1366A>C (p.Lys456Gln)
c.1624A>C (p.Lys542Gln)
c.7399A>C (p.Lys2467Gln)
c.7318A>C (p.Lys2440Gln)
n.6669A>C
c.7327A>C (p.Lys2443Gln)
c.7204A>C (p.Lys2402Gln)
n.1454A>C
c.4810A>C (p.Lys1604Gln)
c.7423A>C (p.Lys2475Gln)
c.5233A>C (p.Lys1745Gln)
c.4909A>C (p.Lys1637Gln)
11g.118503219A>GCA382805126KMT2Ac.7426A>G (p.Lys2476Glu)
c.7417A>G (p.Lys2473Glu)
c.1366A>G (p.Lys456Glu)
c.1624A>G (p.Lys542Glu)
c.7399A>G (p.Lys2467Glu)
c.7318A>G (p.Lys2440Glu)
n.6669A>G
c.7327A>G (p.Lys2443Glu)
c.7204A>G (p.Lys2402Glu)
n.1454A>G
c.4810A>G (p.Lys1604Glu)
c.7423A>G (p.Lys2475Glu)
c.5233A>G (p.Lys1745Glu)
c.4909A>G (p.Lys1637Glu)
11g.118503219A>TCA382805128KMT2Ac.7426A>T (p.Lys2476Ter)
c.7417A>T (p.Lys2473Ter)
c.1366A>T (p.Lys456Ter)
c.1624A>T (p.Lys542Ter)
c.7399A>T (p.Lys2467Ter)
c.7318A>T (p.Lys2440Ter)
n.6669A>T
c.7327A>T (p.Lys2443Ter)
c.7204A>T (p.Lys2402Ter)
n.1454A>T
c.4810A>T (p.Lys1604Ter)
c.7423A>T (p.Lys2475Ter)
c.5233A>T (p.Lys1745Ter)
c.4909A>T (p.Lys1637Ter)
11g.118503220A=CA2003527594KMT2Ac.7427A= (p.Lys2476=)
c.7418A= (p.Lys2473=)
c.1367A= (p.Lys456=)
c.1625A= (p.Lys542=)
c.7400A= (p.Lys2467=)
c.7319A= (p.Lys2440=)
n.6670A=
c.7328A= (p.Lys2443=)
c.7205A= (p.Lys2402=)
n.1455A=
c.4811A= (p.Lys1604=)
c.7424A= (p.Lys2475=)
c.5234A= (p.Lys1745=)
c.4910A= (p.Lys1637=)
11g.118503220A>CCA382805130KMT2Ac.7427A>C (p.Lys2476Thr)
c.7418A>C (p.Lys2473Thr)
c.1367A>C (p.Lys456Thr)
c.1625A>C (p.Lys542Thr)
c.7400A>C (p.Lys2467Thr)
c.7319A>C (p.Lys2440Thr)
n.6670A>C
c.7328A>C (p.Lys2443Thr)
c.7205A>C (p.Lys2402Thr)
n.1455A>C
c.4811A>C (p.Lys1604Thr)
c.7424A>C (p.Lys2475Thr)
c.5234A>C (p.Lys1745Thr)
c.4910A>C (p.Lys1637Thr)
 dbSNP gnomAD v4
11g.118503220A>GCA382805132KMT2Ac.7427A>G (p.Lys2476Arg)
c.7418A>G (p.Lys2473Arg)
c.1367A>G (p.Lys456Arg)
c.1625A>G (p.Lys542Arg)
c.7400A>G (p.Lys2467Arg)
c.7319A>G (p.Lys2440Arg)
n.6670A>G
c.7328A>G (p.Lys2443Arg)
c.7205A>G (p.Lys2402Arg)
n.1455A>G
c.4811A>G (p.Lys1604Arg)
c.7424A>G (p.Lys2475Arg)
c.5234A>G (p.Lys1745Arg)
c.4910A>G (p.Lys1637Arg)
 dbSNP
11g.118503220A>TCA382805133KMT2Ac.7427A>T (p.Lys2476Met)
c.7418A>T (p.Lys2473Met)
c.1367A>T (p.Lys456Met)
c.1625A>T (p.Lys542Met)
c.7400A>T (p.Lys2467Met)
c.7319A>T (p.Lys2440Met)
n.6670A>T
c.7328A>T (p.Lys2443Met)
c.7205A>T (p.Lys2402Met)
n.1455A>T
c.4811A>T (p.Lys1604Met)
c.7424A>T (p.Lys2475Met)
c.5234A>T (p.Lys1745Met)
c.4910A>T (p.Lys1637Met)
11g.118503221G>ACA477359324KMT2Ac.7428G>A (p.Lys2476=)
c.7419G>A (p.Lys2473=)
c.1368G>A (p.Lys456=)
c.1626G>A (p.Lys542=)
c.7401G>A (p.Lys2467=)
c.7320G>A (p.Lys2440=)
n.6671G>A
c.7329G>A (p.Lys2443=)
c.7206G>A (p.Lys2402=)
n.1456G>A
c.4812G>A (p.Lys1604=)
c.7425G>A (p.Lys2475=)
c.5235G>A (p.Lys1745=)
c.4911G>A (p.Lys1637=)
 dbSNP gnomAD v3 gnomAD v4
11g.118503221G>CCA382805135KMT2Ac.7428G>C (p.Lys2476Asn)
c.7419G>C (p.Lys2473Asn)
c.1368G>C (p.Lys456Asn)
c.1626G>C (p.Lys542Asn)
c.7401G>C (p.Lys2467Asn)
c.7320G>C (p.Lys2440Asn)
n.6671G>C
c.7329G>C (p.Lys2443Asn)
c.7206G>C (p.Lys2402Asn)
n.1456G>C
c.4812G>C (p.Lys1604Asn)
c.7425G>C (p.Lys2475Asn)
c.5235G>C (p.Lys1745Asn)
c.4911G>C (p.Lys1637Asn)
 dbSNP
11g.118503221G=CA2003527597KMT2Ac.7428G= (p.Lys2476=)
c.7419G= (p.Lys2473=)
c.1368G= (p.Lys456=)
c.1626G= (p.Lys542=)
c.7401G= (p.Lys2467=)
c.7320G= (p.Lys2440=)
n.6671G=
c.7329G= (p.Lys2443=)
c.7206G= (p.Lys2402=)
n.1456G=
c.4812G= (p.Lys1604=)
c.7425G= (p.Lys2475=)
c.5235G= (p.Lys1745=)
c.4911G= (p.Lys1637=)
11g.118503221G>TCA382805136KMT2Ac.7428G>T (p.Lys2476Asn)
c.7419G>T (p.Lys2473Asn)
c.1368G>T (p.Lys456Asn)
c.1626G>T (p.Lys542Asn)
c.7401G>T (p.Lys2467Asn)
c.7320G>T (p.Lys2440Asn)
n.6671G>T
c.7329G>T (p.Lys2443Asn)
c.7206G>T (p.Lys2402Asn)
n.1456G>T
c.4812G>T (p.Lys1604Asn)
c.7425G>T (p.Lys2475Asn)
c.5235G>T (p.Lys1745Asn)
c.4911G>T (p.Lys1637Asn)
 dbSNP
11g.118503222C>ACA382805138KMT2Ac.7429C>A (p.His2477Asn)
c.7420C>A (p.His2474Asn)
c.1369C>A (p.His457Asn)
c.1627C>A (p.His543Asn)
c.7402C>A (p.His2468Asn)
c.7321C>A (p.His2441Asn)
n.6672C>A
c.7330C>A (p.His2444Asn)
c.7207C>A (p.His2403Asn)
n.1457C>A
c.4813C>A (p.His1605Asn)
c.7426C>A (p.His2476Asn)
c.5236C>A (p.His1746Asn)
c.4912C>A (p.His1638Asn)
 dbSNP
11g.118503222C=CA2003527600KMT2Ac.7429C= (p.His2477=)
c.7420C= (p.His2474=)
c.1369C= (p.His457=)
c.1627C= (p.His543=)
c.7402C= (p.His2468=)
c.7321C= (p.His2441=)
n.6672C=
c.7330C= (p.His2444=)
c.7207C= (p.His2403=)
n.1457C=
c.4813C= (p.His1605=)
c.7426C= (p.His2476=)
c.5236C= (p.His1746=)
c.4912C= (p.His1638=)
11g.118503222C>GCA382805140KMT2Ac.7429C>G (p.His2477Asp)
c.7420C>G (p.His2474Asp)
c.1369C>G (p.His457Asp)
c.1627C>G (p.His543Asp)
c.7402C>G (p.His2468Asp)
c.7321C>G (p.His2441Asp)
n.6672C>G
c.7330C>G (p.His2444Asp)
c.7207C>G (p.His2403Asp)
n.1457C>G
c.4813C>G (p.His1605Asp)
c.7426C>G (p.His2476Asp)
c.5236C>G (p.His1746Asp)
c.4912C>G (p.His1638Asp)
11g.118503222C>TCA229526775KMT2Ac.7429C>T (p.His2477Tyr)
c.7420C>T (p.His2474Tyr)
c.1369C>T (p.His457Tyr)
c.1627C>T (p.His543Tyr)
c.7402C>T (p.His2468Tyr)
c.7321C>T (p.His2441Tyr)
n.6672C>T
c.7330C>T (p.His2444Tyr)
c.7207C>T (p.His2403Tyr)
n.1457C>T
c.4813C>T (p.His1605Tyr)
c.7426C>T (p.His2476Tyr)
c.5236C>T (p.His1746Tyr)
c.4912C>T (p.His1638Tyr)
 ClinVar dbSNP gnomAD v4
11g.118503223A=CA2003527603KMT2Ac.7430A= (p.His2477=)
c.7421A= (p.His2474=)
c.1370A= (p.His457=)
c.1628A= (p.His543=)
c.7403A= (p.His2468=)
c.7322A= (p.His2441=)
n.6673A=
c.7331A= (p.His2444=)
c.7208A= (p.His2403=)
n.1458A=
c.4814A= (p.His1605=)
c.7427A= (p.His2476=)
c.5237A= (p.His1746=)
c.4913A= (p.His1638=)
11g.118503223A>CCA382805143KMT2Ac.7430A>C (p.His2477Pro)
c.7421A>C (p.His2474Pro)
c.1370A>C (p.His457Pro)
c.1628A>C (p.His543Pro)
c.7403A>C (p.His2468Pro)
c.7322A>C (p.His2441Pro)
n.6673A>C
c.7331A>C (p.His2444Pro)
c.7208A>C (p.His2403Pro)
n.1458A>C
c.4814A>C (p.His1605Pro)
c.7427A>C (p.His2476Pro)
c.5237A>C (p.His1746Pro)
c.4913A>C (p.His1638Pro)
11g.118503223A>GCA382805144KMT2Ac.7430A>G (p.His2477Arg)
c.7421A>G (p.His2474Arg)
c.1370A>G (p.His457Arg)
c.1628A>G (p.His543Arg)
c.7403A>G (p.His2468Arg)
c.7322A>G (p.His2441Arg)
n.6673A>G
c.7331A>G (p.His2444Arg)
c.7208A>G (p.His2403Arg)
n.1458A>G
c.4814A>G (p.His1605Arg)
c.7427A>G (p.His2476Arg)
c.5237A>G (p.His1746Arg)
c.4913A>G (p.His1638Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.118503223A>TCA382805146KMT2Ac.7430A>T (p.His2477Leu)
c.7421A>T (p.His2474Leu)
c.1370A>T (p.His457Leu)
c.1628A>T (p.His543Leu)
c.7403A>T (p.His2468Leu)
c.7322A>T (p.His2441Leu)
n.6673A>T
c.7331A>T (p.His2444Leu)
c.7208A>T (p.His2403Leu)
n.1458A>T
c.4814A>T (p.His1605Leu)
c.7427A>T (p.His2476Leu)
c.5237A>T (p.His1746Leu)
c.4913A>T (p.His1638Leu)
11g.118503224T>ACA382805147KMT2Ac.7431T>A (p.His2477Gln)
c.7422T>A (p.His2474Gln)
c.1371T>A (p.His457Gln)
c.1629T>A (p.His543Gln)
c.7404T>A (p.His2468Gln)
c.7323T>A (p.His2441Gln)
n.6674T>A
c.7332T>A (p.His2444Gln)
c.7209T>A (p.His2403Gln)
n.1459T>A
c.4815T>A (p.His1605Gln)
c.7428T>A (p.His2476Gln)
c.5238T>A (p.His1746Gln)
c.4914T>A (p.His1638Gln)
11g.118503224T>CCA6304389KMT2Ac.7431T>C (p.His2477=)
c.7422T>C (p.His2474=)
c.1371T>C (p.His457=)
c.1629T>C (p.His543=)
c.7404T>C (p.His2468=)
c.7323T>C (p.His2441=)
n.6674T>C
c.7332T>C (p.His2444=)
c.7209T>C (p.His2403=)
n.1459T>C
c.4815T>C (p.His1605=)
c.7428T>C (p.His2476=)
c.5238T>C (p.His1746=)
c.4914T>C (p.His1638=)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.118503224T>GCA382805150KMT2Ac.7431T>G (p.His2477Gln)
c.7422T>G (p.His2474Gln)
c.1371T>G (p.His457Gln)
c.1629T>G (p.His543Gln)
c.7404T>G (p.His2468Gln)
c.7323T>G (p.His2441Gln)
n.6674T>G
c.7332T>G (p.His2444Gln)
c.7209T>G (p.His2403Gln)
n.1459T>G
c.4815T>G (p.His1605Gln)
c.7428T>G (p.His2476Gln)
c.5238T>G (p.His1746Gln)
c.4914T>G (p.His1638Gln)
11g.118503224T=CA2003527608KMT2Ac.7431T= (p.His2477=)
c.7422T= (p.His2474=)
c.1371T= (p.His457=)
c.1629T= (p.His543=)
c.7404T= (p.His2468=)
c.7323T= (p.His2441=)
n.6674T=
c.7332T= (p.His2444=)
c.7209T= (p.His2403=)
n.1459T=
c.4815T= (p.His1605=)
c.7428T= (p.His2476=)
c.5238T= (p.His1746=)
c.4914T= (p.His1638=)
11g.118503225T>ACA382805151KMT2Ac.7432T>A (p.Ser2478Thr)
c.7423T>A (p.Ser2475Thr)
c.1372T>A (p.Ser458Thr)
c.1630T>A (p.Ser544Thr)
c.7405T>A (p.Ser2469Thr)
c.7324T>A (p.Ser2442Thr)
n.6675T>A
c.7333T>A (p.Ser2445Thr)
c.7210T>A (p.Ser2404Thr)
n.1460T>A
c.4816T>A (p.Ser1606Thr)
c.7429T>A (p.Ser2477Thr)
c.5239T>A (p.Ser1747Thr)
c.4915T>A (p.Ser1639Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.118503225T>CCA382805153KMT2Ac.7432T>C (p.Ser2478Pro)
c.7423T>C (p.Ser2475Pro)
c.1372T>C (p.Ser458Pro)
c.1630T>C (p.Ser544Pro)
c.7405T>C (p.Ser2469Pro)
c.7324T>C (p.Ser2442Pro)
n.6675T>C
c.7333T>C (p.Ser2445Pro)
c.7210T>C (p.Ser2404Pro)
n.1460T>C
c.4816T>C (p.Ser1606Pro)
c.7429T>C (p.Ser2477Pro)
c.5239T>C (p.Ser1747Pro)
c.4915T>C (p.Ser1639Pro)
11g.118503225T>GCA382805154KMT2Ac.7432T>G (p.Ser2478Ala)
c.7423T>G (p.Ser2475Ala)
c.1372T>G (p.Ser458Ala)
c.1630T>G (p.Ser544Ala)
c.7405T>G (p.Ser2469Ala)
c.7324T>G (p.Ser2442Ala)
n.6675T>G
c.7333T>G (p.Ser2445Ala)
c.7210T>G (p.Ser2404Ala)
n.1460T>G
c.4816T>G (p.Ser1606Ala)
c.7429T>G (p.Ser2477Ala)
c.5239T>G (p.Ser1747Ala)
c.4915T>G (p.Ser1639Ala)
11g.118503225T=CA2003527612KMT2Ac.7432T= (p.Ser2478=)
c.7423T= (p.Ser2475=)
c.1372T= (p.Ser458=)
c.1630T= (p.Ser544=)
c.7405T= (p.Ser2469=)
c.7324T= (p.Ser2442=)
n.6675T=
c.7333T= (p.Ser2445=)
c.7210T= (p.Ser2404=)
n.1460T=
c.4816T= (p.Ser1606=)
c.7429T= (p.Ser2477=)
c.5239T= (p.Ser1747=)
c.4915T= (p.Ser1639=)
11g.118503226C>ACA382805159KMT2Ac.7433C>A (p.Ser2478Tyr)
c.7424C>A (p.Ser2475Tyr)
c.1373C>A (p.Ser458Tyr)
c.1631C>A (p.Ser544Tyr)
c.7406C>A (p.Ser2469Tyr)
c.7325C>A (p.Ser2442Tyr)
n.6676C>A
c.7334C>A (p.Ser2445Tyr)
c.7211C>A (p.Ser2404Tyr)
n.1461C>A
c.4817C>A (p.Ser1606Tyr)
c.7430C>A (p.Ser2477Tyr)
c.5240C>A (p.Ser1747Tyr)
c.4916C>A (p.Ser1639Tyr)
 dbSNP gnomAD v4
11g.118503226C>GCA382805158KMT2Ac.7433C>G (p.Ser2478Cys)
c.7424C>G (p.Ser2475Cys)
c.1373C>G (p.Ser458Cys)
c.1631C>G (p.Ser544Cys)
c.7406C>G (p.Ser2469Cys)
c.7325C>G (p.Ser2442Cys)
n.6676C>G
c.7334C>G (p.Ser2445Cys)
c.7211C>G (p.Ser2404Cys)
n.1461C>G
c.4817C>G (p.Ser1606Cys)
c.7430C>G (p.Ser2477Cys)
c.5240C>G (p.Ser1747Cys)
c.4916C>G (p.Ser1639Cys)
 dbSNP
11g.118503226C>TCA382805156KMT2Ac.7433C>T (p.Ser2478Phe)
c.7424C>T (p.Ser2475Phe)
c.1373C>T (p.Ser458Phe)
c.1631C>T (p.Ser544Phe)
c.7406C>T (p.Ser2469Phe)
c.7325C>T (p.Ser2442Phe)
n.6676C>T
c.7334C>T (p.Ser2445Phe)
c.7211C>T (p.Ser2404Phe)
n.1461C>T
c.4817C>T (p.Ser1606Phe)
c.7430C>T (p.Ser2477Phe)
c.5240C>T (p.Ser1747Phe)
c.4916C>T (p.Ser1639Phe)
 dbSNP
11g.118503227C>ACA477359328KMT2Ac.7434C>A (p.Ser2478=)
c.7425C>A (p.Ser2475=)
c.1374C>A (p.Ser458=)
c.1632C>A (p.Ser544=)
c.7407C>A (p.Ser2469=)
c.7326C>A (p.Ser2442=)
n.6677C>A
c.7335C>A (p.Ser2445=)
c.7212C>A (p.Ser2404=)
n.1462C>A
c.4818C>A (p.Ser1606=)
c.7431C>A (p.Ser2477=)
c.5241C>A (p.Ser1747=)
c.4917C>A (p.Ser1639=)
11g.118503227C=CA2003527615KMT2Ac.7434C= (p.Ser2478=)
c.7425C= (p.Ser2475=)
c.1374C= (p.Ser458=)
c.1632C= (p.Ser544=)
c.7407C= (p.Ser2469=)
c.7326C= (p.Ser2442=)
n.6677C=
c.7335C= (p.Ser2445=)
c.7212C= (p.Ser2404=)
n.1462C=
c.4818C= (p.Ser1606=)
c.7431C= (p.Ser2477=)
c.5241C= (p.Ser1747=)
c.4917C= (p.Ser1639=)
11g.118503227C>GCA477359327KMT2Ac.7434C>G (p.Ser2478=)
c.7425C>G (p.Ser2475=)
c.1374C>G (p.Ser458=)
c.1632C>G (p.Ser544=)
c.7407C>G (p.Ser2469=)
c.7326C>G (p.Ser2442=)
n.6677C>G
c.7335C>G (p.Ser2445=)
c.7212C>G (p.Ser2404=)
n.1462C>G
c.4818C>G (p.Ser1606=)
c.7431C>G (p.Ser2477=)
c.5241C>G (p.Ser1747=)
c.4917C>G (p.Ser1639=)
11g.118503227C>TCA6304390KMT2Ac.7434C>T (p.Ser2478=)
c.7425C>T (p.Ser2475=)
c.1374C>T (p.Ser458=)
c.1632C>T (p.Ser544=)
c.7407C>T (p.Ser2469=)
c.7326C>T (p.Ser2442=)
n.6677C>T
c.7335C>T (p.Ser2445=)
c.7212C>T (p.Ser2404=)
n.1462C>T
c.4818C>T (p.Ser1606=)
c.7431C>T (p.Ser2477=)
c.5241C>T (p.Ser1747=)
c.4917C>T (p.Ser1639=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503228A>CCA382805165KMT2Ac.7435A>C (p.Ser2479Arg)
c.7426A>C (p.Ser2476Arg)
c.1375A>C (p.Ser459Arg)
c.1633A>C (p.Ser545Arg)
c.7408A>C (p.Ser2470Arg)
c.7327A>C (p.Ser2443Arg)
n.6678A>C
c.7336A>C (p.Ser2446Arg)
c.7213A>C (p.Ser2405Arg)
n.1463A>C
c.4819A>C (p.Ser1607Arg)
c.7432A>C (p.Ser2478Arg)
c.5242A>C (p.Ser1748Arg)
c.4918A>C (p.Ser1640Arg)
11g.118503228A>GCA382805163KMT2Ac.7435A>G (p.Ser2479Gly)
c.7426A>G (p.Ser2476Gly)
c.1375A>G (p.Ser459Gly)
c.1633A>G (p.Ser545Gly)
c.7408A>G (p.Ser2470Gly)
c.7327A>G (p.Ser2443Gly)
n.6678A>G
c.7336A>G (p.Ser2446Gly)
c.7213A>G (p.Ser2405Gly)
n.1463A>G
c.4819A>G (p.Ser1607Gly)
c.7432A>G (p.Ser2478Gly)
c.5242A>G (p.Ser1748Gly)
c.4918A>G (p.Ser1640Gly)
11g.118503228A>TCA382805164KMT2Ac.7435A>T (p.Ser2479Cys)
c.7426A>T (p.Ser2476Cys)
c.1375A>T (p.Ser459Cys)
c.1633A>T (p.Ser545Cys)
c.7408A>T (p.Ser2470Cys)
c.7327A>T (p.Ser2443Cys)
n.6678A>T
c.7336A>T (p.Ser2446Cys)
c.7213A>T (p.Ser2405Cys)
n.1463A>T
c.4819A>T (p.Ser1607Cys)
c.7432A>T (p.Ser2478Cys)
c.5242A>T (p.Ser1748Cys)
c.4918A>T (p.Ser1640Cys)
11g.118503229G>ACA382805167KMT2Ac.7436G>A (p.Ser2479Asn)
c.7427G>A (p.Ser2476Asn)
c.1376G>A (p.Ser459Asn)
c.1634G>A (p.Ser545Asn)
c.7409G>A (p.Ser2470Asn)
c.7328G>A (p.Ser2443Asn)
n.6679G>A
c.7337G>A (p.Ser2446Asn)
c.7214G>A (p.Ser2405Asn)
n.1464G>A
c.4820G>A (p.Ser1607Asn)
c.7433G>A (p.Ser2478Asn)
c.5243G>A (p.Ser1748Asn)
c.4919G>A (p.Ser1640Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503229G>CCA382805169KMT2Ac.7436G>C (p.Ser2479Thr)
c.7427G>C (p.Ser2476Thr)
c.1376G>C (p.Ser459Thr)
c.1634G>C (p.Ser545Thr)
c.7409G>C (p.Ser2470Thr)
c.7328G>C (p.Ser2443Thr)
n.6679G>C
c.7337G>C (p.Ser2446Thr)
c.7214G>C (p.Ser2405Thr)
n.1464G>C
c.4820G>C (p.Ser1607Thr)
c.7433G>C (p.Ser2478Thr)
c.5243G>C (p.Ser1748Thr)
c.4919G>C (p.Ser1640Thr)
11g.118503229G=CA2003527618KMT2Ac.7436G= (p.Ser2479=)
c.7427G= (p.Ser2476=)
c.1376G= (p.Ser459=)
c.1634G= (p.Ser545=)
c.7409G= (p.Ser2470=)
c.7328G= (p.Ser2443=)
n.6679G=
c.7337G= (p.Ser2446=)
c.7214G= (p.Ser2405=)
n.1464G=
c.4820G= (p.Ser1607=)
c.7433G= (p.Ser2478=)
c.5243G= (p.Ser1748=)
c.4919G= (p.Ser1640=)
11g.118503229G>TCA382805170KMT2Ac.7436G>T (p.Ser2479Ile)
c.7427G>T (p.Ser2476Ile)
c.1376G>T (p.Ser459Ile)
c.1634G>T (p.Ser545Ile)
c.7409G>T (p.Ser2470Ile)
c.7328G>T (p.Ser2443Ile)
n.6679G>T
c.7337G>T (p.Ser2446Ile)
c.7214G>T (p.Ser2405Ile)
n.1464G>T
c.4820G>T (p.Ser1607Ile)
c.7433G>T (p.Ser2478Ile)
c.5243G>T (p.Ser1748Ile)
c.4919G>T (p.Ser1640Ile)
11g.118503230T>ACA382805172KMT2Ac.7437T>A (p.Ser2479Arg)
c.7428T>A (p.Ser2476Arg)
c.1377T>A (p.Ser459Arg)
c.1635T>A (p.Ser545Arg)
c.7410T>A (p.Ser2470Arg)
c.7329T>A (p.Ser2443Arg)
n.6680T>A
c.7338T>A (p.Ser2446Arg)
c.7215T>A (p.Ser2405Arg)
n.1465T>A
c.4821T>A (p.Ser1607Arg)
c.7434T>A (p.Ser2478Arg)
c.5244T>A (p.Ser1748Arg)
c.4920T>A (p.Ser1640Arg)
11g.118503230T>CCA6304391KMT2Ac.7437T>C (p.Ser2479=)
c.7428T>C (p.Ser2476=)
c.1377T>C (p.Ser459=)
c.1635T>C (p.Ser545=)
c.7410T>C (p.Ser2470=)
c.7329T>C (p.Ser2443=)
n.6680T>C
c.7338T>C (p.Ser2446=)
c.7215T>C (p.Ser2405=)
n.1465T>C
c.4821T>C (p.Ser1607=)
c.7434T>C (p.Ser2478=)
c.5244T>C (p.Ser1748=)
c.4920T>C (p.Ser1640=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503230T>GCA382805174KMT2Ac.7437T>G (p.Ser2479Arg)
c.7428T>G (p.Ser2476Arg)
c.1377T>G (p.Ser459Arg)
c.1635T>G (p.Ser545Arg)
c.7410T>G (p.Ser2470Arg)
c.7329T>G (p.Ser2443Arg)
n.6680T>G
c.7338T>G (p.Ser2446Arg)
c.7215T>G (p.Ser2405Arg)
n.1465T>G
c.4821T>G (p.Ser1607Arg)
c.7434T>G (p.Ser2478Arg)
c.5244T>G (p.Ser1748Arg)
c.4920T>G (p.Ser1640Arg)
11g.118503230T=CA2003527622KMT2Ac.7437T= (p.Ser2479=)
c.7428T= (p.Ser2476=)
c.1377T= (p.Ser459=)
c.1635T= (p.Ser545=)
c.7410T= (p.Ser2470=)
c.7329T= (p.Ser2443=)
n.6680T=
c.7338T= (p.Ser2446=)
c.7215T= (p.Ser2405=)
n.1465T=
c.4821T= (p.Ser1607=)
c.7434T= (p.Ser2478=)
c.5244T= (p.Ser1748=)
c.4920T= (p.Ser1640=)
11g.118503231A>CCA382805176KMT2Ac.7438A>C (p.Lys2480Gln)
c.7429A>C (p.Lys2477Gln)
c.1378A>C (p.Lys460Gln)
c.1636A>C (p.Lys546Gln)
c.7411A>C (p.Lys2471Gln)
c.7330A>C (p.Lys2444Gln)
n.6681A>C
c.7339A>C (p.Lys2447Gln)
c.7216A>C (p.Lys2406Gln)
n.1466A>C
c.4822A>C (p.Lys1608Gln)
c.7435A>C (p.Lys2479Gln)
c.5245A>C (p.Lys1749Gln)
c.4921A>C (p.Lys1641Gln)
11g.118503231A>GCA382805178KMT2Ac.7438A>G (p.Lys2480Glu)
c.7429A>G (p.Lys2477Glu)
c.1378A>G (p.Lys460Glu)
c.1636A>G (p.Lys546Glu)
c.7411A>G (p.Lys2471Glu)
c.7330A>G (p.Lys2444Glu)
n.6681A>G
c.7339A>G (p.Lys2447Glu)
c.7216A>G (p.Lys2406Glu)
n.1466A>G
c.4822A>G (p.Lys1608Glu)
c.7435A>G (p.Lys2479Glu)
c.5245A>G (p.Lys1749Glu)
c.4921A>G (p.Lys1641Glu)
 gnomAD v4
11g.118503231A>TCA382805180KMT2Ac.7438A>T (p.Lys2480Ter)
c.7429A>T (p.Lys2477Ter)
c.1378A>T (p.Lys460Ter)
c.1636A>T (p.Lys546Ter)
c.7411A>T (p.Lys2471Ter)
c.7330A>T (p.Lys2444Ter)
n.6681A>T
c.7339A>T (p.Lys2447Ter)
c.7216A>T (p.Lys2406Ter)
n.1466A>T
c.4822A>T (p.Lys1608Ter)
c.7435A>T (p.Lys2479Ter)
c.5245A>T (p.Lys1749Ter)
c.4921A>T (p.Lys1641Ter)
11g.118503232A>CCA382805182KMT2Ac.7439A>C (p.Lys2480Thr)
c.7430A>C (p.Lys2477Thr)
c.1379A>C (p.Lys460Thr)
c.1637A>C (p.Lys546Thr)
c.7412A>C (p.Lys2471Thr)
c.7331A>C (p.Lys2444Thr)
n.6682A>C
c.7340A>C (p.Lys2447Thr)
c.7217A>C (p.Lys2406Thr)
n.1467A>C
c.4823A>C (p.Lys1608Thr)
c.7436A>C (p.Lys2479Thr)
c.5246A>C (p.Lys1749Thr)
c.4922A>C (p.Lys1641Thr)
11g.118503232A>GCA382805183KMT2Ac.7439A>G (p.Lys2480Arg)
c.7430A>G (p.Lys2477Arg)
c.1379A>G (p.Lys460Arg)
c.1637A>G (p.Lys546Arg)
c.7412A>G (p.Lys2471Arg)
c.7331A>G (p.Lys2444Arg)
n.6682A>G
c.7340A>G (p.Lys2447Arg)
c.7217A>G (p.Lys2406Arg)
n.1467A>G
c.4823A>G (p.Lys1608Arg)
c.7436A>G (p.Lys2479Arg)
c.5246A>G (p.Lys1749Arg)
c.4922A>G (p.Lys1641Arg)
11g.118503232A>TCA382805185KMT2Ac.7439A>T (p.Lys2480Ile)
c.7430A>T (p.Lys2477Ile)
c.1379A>T (p.Lys460Ile)
c.1637A>T (p.Lys546Ile)
c.7412A>T (p.Lys2471Ile)
c.7331A>T (p.Lys2444Ile)
n.6682A>T
c.7340A>T (p.Lys2447Ile)
c.7217A>T (p.Lys2406Ile)
n.1467A>T
c.4823A>T (p.Lys1608Ile)
c.7436A>T (p.Lys2479Ile)
c.5246A>T (p.Lys1749Ile)
c.4922A>T (p.Lys1641Ile)
11g.118503233A>CCA382805186KMT2Ac.7440A>C (p.Lys2480Asn)
c.7431A>C (p.Lys2477Asn)
c.1380A>C (p.Lys460Asn)
c.1638A>C (p.Lys546Asn)
c.7413A>C (p.Lys2471Asn)
c.7332A>C (p.Lys2444Asn)
n.6683A>C
c.7341A>C (p.Lys2447Asn)
c.7218A>C (p.Lys2406Asn)
n.1468A>C
c.4824A>C (p.Lys1608Asn)
c.7437A>C (p.Lys2479Asn)
c.5247A>C (p.Lys1749Asn)
c.4923A>C (p.Lys1641Asn)
11g.118503233A>GCA477359332KMT2Ac.7440A>G (p.Lys2480=)
c.7431A>G (p.Lys2477=)
c.1380A>G (p.Lys460=)
c.1638A>G (p.Lys546=)
c.7413A>G (p.Lys2471=)
c.7332A>G (p.Lys2444=)
n.6683A>G
c.7341A>G (p.Lys2447=)
c.7218A>G (p.Lys2406=)
n.1468A>G
c.4824A>G (p.Lys1608=)
c.7437A>G (p.Lys2479=)
c.5247A>G (p.Lys1749=)
c.4923A>G (p.Lys1641=)
 COSMIC
11g.118503233A>TCA382805187KMT2Ac.7440A>T (p.Lys2480Asn)
c.7431A>T (p.Lys2477Asn)
c.1380A>T (p.Lys460Asn)
c.1638A>T (p.Lys546Asn)
c.7413A>T (p.Lys2471Asn)
c.7332A>T (p.Lys2444Asn)
n.6683A>T
c.7341A>T (p.Lys2447Asn)
c.7218A>T (p.Lys2406Asn)
n.1468A>T
c.4824A>T (p.Lys1608Asn)
c.7437A>T (p.Lys2479Asn)
c.5247A>T (p.Lys1749Asn)
c.4923A>T (p.Lys1641Asn)
 gnomAD v4
11g.118503234T>ACA382805189KMT2Ac.7441T>A (p.Ser2481Thr)
c.7432T>A (p.Ser2478Thr)
c.1381T>A (p.Ser461Thr)
c.1639T>A (p.Ser547Thr)
c.7414T>A (p.Ser2472Thr)
c.7333T>A (p.Ser2445Thr)
n.6684T>A
c.7342T>A (p.Ser2448Thr)
c.7219T>A (p.Ser2407Thr)
n.1469T>A
c.4825T>A (p.Ser1609Thr)
c.7438T>A (p.Ser2480Thr)
c.5248T>A (p.Ser1750Thr)
c.4924T>A (p.Ser1642Thr)
11g.118503234T>CCA382805190KMT2Ac.7441T>C (p.Ser2481Pro)
c.7432T>C (p.Ser2478Pro)
c.1381T>C (p.Ser461Pro)
c.1639T>C (p.Ser547Pro)
c.7414T>C (p.Ser2472Pro)
c.7333T>C (p.Ser2445Pro)
n.6684T>C
c.7342T>C (p.Ser2448Pro)
c.7219T>C (p.Ser2407Pro)
n.1469T>C
c.4825T>C (p.Ser1609Pro)
c.7438T>C (p.Ser2480Pro)
c.5248T>C (p.Ser1750Pro)
c.4924T>C (p.Ser1642Pro)
11g.118503234T>GCA382805192KMT2Ac.7441T>G (p.Ser2481Ala)
c.7432T>G (p.Ser2478Ala)
c.1381T>G (p.Ser461Ala)
c.1639T>G (p.Ser547Ala)
c.7414T>G (p.Ser2472Ala)
c.7333T>G (p.Ser2445Ala)
n.6684T>G
c.7342T>G (p.Ser2448Ala)
c.7219T>G (p.Ser2407Ala)
n.1469T>G
c.4825T>G (p.Ser1609Ala)
c.7438T>G (p.Ser2480Ala)
c.5248T>G (p.Ser1750Ala)
c.4924T>G (p.Ser1642Ala)
11g.118503235C>ACA382805193KMT2Ac.7442C>A (p.Ser2481Tyr)
c.7433C>A (p.Ser2478Tyr)
c.1382C>A (p.Ser461Tyr)
c.1640C>A (p.Ser547Tyr)
c.7415C>A (p.Ser2472Tyr)
c.7334C>A (p.Ser2445Tyr)
n.6685C>A
c.7343C>A (p.Ser2448Tyr)
c.7220C>A (p.Ser2407Tyr)
n.1470C>A
c.4826C>A (p.Ser1609Tyr)
c.7439C>A (p.Ser2480Tyr)
c.5249C>A (p.Ser1750Tyr)
c.4925C>A (p.Ser1642Tyr)
 ClinVar
11g.118503235C>GCA382805194KMT2Ac.7442C>G (p.Ser2481Cys)
c.7433C>G (p.Ser2478Cys)
c.1382C>G (p.Ser461Cys)
c.1640C>G (p.Ser547Cys)
c.7415C>G (p.Ser2472Cys)
c.7334C>G (p.Ser2445Cys)
n.6685C>G
c.7343C>G (p.Ser2448Cys)
c.7220C>G (p.Ser2407Cys)
n.1470C>G
c.4826C>G (p.Ser1609Cys)
c.7439C>G (p.Ser2480Cys)
c.5249C>G (p.Ser1750Cys)
c.4925C>G (p.Ser1642Cys)
11g.118503235C>TCA382805196KMT2Ac.7442C>T (p.Ser2481Phe)
c.7433C>T (p.Ser2478Phe)
c.1382C>T (p.Ser461Phe)
c.1640C>T (p.Ser547Phe)
c.7415C>T (p.Ser2472Phe)
c.7334C>T (p.Ser2445Phe)
n.6685C>T
c.7343C>T (p.Ser2448Phe)
c.7220C>T (p.Ser2407Phe)
n.1470C>T
c.4826C>T (p.Ser1609Phe)
c.7439C>T (p.Ser2480Phe)
c.5249C>T (p.Ser1750Phe)
c.4925C>T (p.Ser1642Phe)
11g.118503235_118503236delinsCTCA2003527626KMT2Ac.7442_7443delinsCT (p.Ser2481=)
c.7433_7434delinsCT (p.Ser2478=)
c.1382_1383delinsCT (p.Ser461=)
c.1640_1641delinsCT (p.Ser547=)
c.7415_7416delinsCT (p.Ser2472=)
c.7334_7335delinsCT (p.Ser2445=)
n.6685_6686delinsCT
c.7343_7344delinsCT (p.Ser2448=)
c.7220_7221delinsCT (p.Ser2407=)
n.1470_1471delinsCT
c.4826_4827delinsCT (p.Ser1609=)
c.7439_7440delinsCT (p.Ser2480=)
c.5249_5250delinsCT (p.Ser1750=)
c.4925_4926delinsCT (p.Ser1642=)
11g.118503236T>ACA477359335KMT2Ac.7443T>A (p.Ser2481=)
c.7434T>A (p.Ser2478=)
c.1383T>A (p.Ser461=)
c.1641T>A (p.Ser547=)
c.7416T>A (p.Ser2472=)
c.7335T>A (p.Ser2445=)
n.6686T>A
c.7344T>A (p.Ser2448=)
c.7221T>A (p.Ser2407=)
n.1471T>A
c.4827T>A (p.Ser1609=)
c.7440T>A (p.Ser2480=)
c.5250T>A (p.Ser1750=)
c.4926T>A (p.Ser1642=)
 COSMIC COSMIC
11g.118503236T>CCA477359336KMT2Ac.7443T>C (p.Ser2481=)
c.7434T>C (p.Ser2478=)
c.1383T>C (p.Ser461=)
c.1641T>C (p.Ser547=)
c.7416T>C (p.Ser2472=)
c.7335T>C (p.Ser2445=)
n.6686T>C
c.7344T>C (p.Ser2448=)
c.7221T>C (p.Ser2407=)
n.1471T>C
c.4827T>C (p.Ser1609=)
c.7440T>C (p.Ser2480=)
c.5250T>C (p.Ser1750=)
c.4926T>C (p.Ser1642=)
11g.118503236T>GCA477359337KMT2Ac.7443T>G (p.Ser2481=)
c.7434T>G (p.Ser2478=)
c.1383T>G (p.Ser461=)
c.1641T>G (p.Ser547=)
c.7416T>G (p.Ser2472=)
c.7335T>G (p.Ser2445=)
n.6686T>G
c.7344T>G (p.Ser2448=)
c.7221T>G (p.Ser2407=)
n.1471T>G
c.4827T>G (p.Ser1609=)
c.7440T>G (p.Ser2480=)
c.5250T>G (p.Ser1750=)
c.4926T>G (p.Ser1642=)
11g.118503241dupCA2724978460KMT2Ac.7448dup (p.Leu2483PhefsTer10)
c.7439dup (p.Leu2480PhefsTer10)
c.1388dup (p.Leu463PhefsTer10)
c.1646dup (p.Leu549PhefsTer10)
c.7421dup (p.Leu2474PhefsTer10)
c.7340dup (p.Leu2447PhefsTer10)
n.6691dup
c.7349dup (p.Leu2450PhefsTer10)
c.7226dup (p.Leu2409PhefsTer10)
n.1476dup
c.4832dup (p.Leu1611PhefsTer10)
c.7445dup (p.Leu2482PhefsTer10)
c.5255dup (p.Leu1752PhefsTer10)
c.4931dup (p.Leu1644PhefsTer10)
 dbSNP
11g.118503241delCA915947783KMT2Ac.7448del (p.Leu2483TrpfsTer6)
c.7439del (p.Leu2480TrpfsTer6)
c.1388del (p.Leu463TrpfsTer6)
c.1646del (p.Leu549TrpfsTer6)
c.7421del (p.Leu2474TrpfsTer6)
c.7340del (p.Leu2447TrpfsTer6)
n.6691del
c.7349del (p.Leu2450TrpfsTer6)
c.7226del (p.Leu2409TrpfsTer6)
n.1476del
c.4832del (p.Leu1611TrpfsTer6)
c.7445del (p.Leu2482TrpfsTer6)
c.5255del (p.Leu1752TrpfsTer6)
c.4931del (p.Leu1644TrpfsTer6)
 ClinVar dbSNP
11g.118503237T>ACA382805199KMT2Ac.7444T>A (p.Phe2482Ile)
c.7435T>A (p.Phe2479Ile)
c.1384T>A (p.Phe462Ile)
c.1642T>A (p.Phe548Ile)
c.7417T>A (p.Phe2473Ile)
c.7336T>A (p.Phe2446Ile)
n.6687T>A
c.7345T>A (p.Phe2449Ile)
c.7222T>A (p.Phe2408Ile)
n.1472T>A
c.4828T>A (p.Phe1610Ile)
c.7441T>A (p.Phe2481Ile)
c.5251T>A (p.Phe1751Ile)
c.4927T>A (p.Phe1643Ile)
11g.118503237T>CCA382805200KMT2Ac.7444T>C (p.Phe2482Leu)
c.7435T>C (p.Phe2479Leu)
c.1384T>C (p.Phe462Leu)
c.1642T>C (p.Phe548Leu)
c.7417T>C (p.Phe2473Leu)
c.7336T>C (p.Phe2446Leu)
n.6687T>C
c.7345T>C (p.Phe2449Leu)
c.7222T>C (p.Phe2408Leu)
n.1472T>C
c.4828T>C (p.Phe1610Leu)
c.7441T>C (p.Phe2481Leu)
c.5251T>C (p.Phe1751Leu)
c.4927T>C (p.Phe1643Leu)
11g.118503237T>GCA382805201KMT2Ac.7444T>G (p.Phe2482Val)
c.7435T>G (p.Phe2479Val)
c.1384T>G (p.Phe462Val)
c.1642T>G (p.Phe548Val)
c.7417T>G (p.Phe2473Val)
c.7336T>G (p.Phe2446Val)
n.6687T>G
c.7345T>G (p.Phe2449Val)
c.7222T>G (p.Phe2408Val)
n.1472T>G
c.4828T>G (p.Phe1610Val)
c.7441T>G (p.Phe2481Val)
c.5251T>G (p.Phe1751Val)
c.4927T>G (p.Phe1643Val)
11g.118503238T>ACA382805203KMT2Ac.7445T>A (p.Phe2482Tyr)
c.7436T>A (p.Phe2479Tyr)
c.1385T>A (p.Phe462Tyr)
c.1643T>A (p.Phe548Tyr)
c.7418T>A (p.Phe2473Tyr)
c.7337T>A (p.Phe2446Tyr)
n.6688T>A
c.7346T>A (p.Phe2449Tyr)
c.7223T>A (p.Phe2408Tyr)
n.1473T>A
c.4829T>A (p.Phe1610Tyr)
c.7442T>A (p.Phe2481Tyr)
c.5252T>A (p.Phe1751Tyr)
c.4928T>A (p.Phe1643Tyr)
11g.118503238T>CCA6304392KMT2Ac.7445T>C (p.Phe2482Ser)
c.7436T>C (p.Phe2479Ser)
c.1385T>C (p.Phe462Ser)
c.1643T>C (p.Phe548Ser)
c.7418T>C (p.Phe2473Ser)
c.7337T>C (p.Phe2446Ser)
n.6688T>C
c.7346T>C (p.Phe2449Ser)
c.7223T>C (p.Phe2408Ser)
n.1473T>C
c.4829T>C (p.Phe1610Ser)
c.7442T>C (p.Phe2481Ser)
c.5252T>C (p.Phe1751Ser)
c.4928T>C (p.Phe1643Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503238T>GCA382805205KMT2Ac.7445T>G (p.Phe2482Cys)
c.7436T>G (p.Phe2479Cys)
c.1385T>G (p.Phe462Cys)
c.1643T>G (p.Phe548Cys)
c.7418T>G (p.Phe2473Cys)
c.7337T>G (p.Phe2446Cys)
n.6688T>G
c.7346T>G (p.Phe2449Cys)
c.7223T>G (p.Phe2408Cys)
n.1473T>G
c.4829T>G (p.Phe1610Cys)
c.7442T>G (p.Phe2481Cys)
c.5252T>G (p.Phe1751Cys)
c.4928T>G (p.Phe1643Cys)
11g.118503238T=CA2003527636KMT2Ac.7445T= (p.Phe2482=)
c.7436T= (p.Phe2479=)
c.1385T= (p.Phe462=)
c.1643T= (p.Phe548=)
c.7418T= (p.Phe2473=)
c.7337T= (p.Phe2446=)
n.6688T=
c.7346T= (p.Phe2449=)
c.7223T= (p.Phe2408=)
n.1473T=
c.4829T= (p.Phe1610=)
c.7442T= (p.Phe2481=)
c.5252T= (p.Phe1751=)
c.4928T= (p.Phe1643=)
11g.118503239T>ACA382805208KMT2Ac.7446T>A (p.Phe2482Leu)
c.7437T>A (p.Phe2479Leu)
c.1386T>A (p.Phe462Leu)
c.1644T>A (p.Phe548Leu)
c.7419T>A (p.Phe2473Leu)
c.7338T>A (p.Phe2446Leu)
n.6689T>A
c.7347T>A (p.Phe2449Leu)
c.7224T>A (p.Phe2408Leu)
n.1474T>A
c.4830T>A (p.Phe1610Leu)
c.7443T>A (p.Phe2481Leu)
c.5253T>A (p.Phe1751Leu)
c.4929T>A (p.Phe1643Leu)
11g.118503239T>CCA477359341KMT2Ac.7446T>C (p.Phe2482=)
c.7437T>C (p.Phe2479=)
c.1386T>C (p.Phe462=)
c.1644T>C (p.Phe548=)
c.7419T>C (p.Phe2473=)
c.7338T>C (p.Phe2446=)
n.6689T>C
c.7347T>C (p.Phe2449=)
c.7224T>C (p.Phe2408=)
n.1474T>C
c.4830T>C (p.Phe1610=)
c.7443T>C (p.Phe2481=)
c.5253T>C (p.Phe1751=)
c.4929T>C (p.Phe1643=)
 ClinVar dbSNP
11g.118503239T>GCA382805209KMT2Ac.7446T>G (p.Phe2482Leu)
c.7437T>G (p.Phe2479Leu)
c.1386T>G (p.Phe462Leu)
c.1644T>G (p.Phe548Leu)
c.7419T>G (p.Phe2473Leu)
c.7338T>G (p.Phe2446Leu)
n.6689T>G
c.7347T>G (p.Phe2449Leu)
c.7224T>G (p.Phe2408Leu)
n.1474T>G
c.4830T>G (p.Phe1610Leu)
c.7443T>G (p.Phe2481Leu)
c.5253T>G (p.Phe1751Leu)
c.4929T>G (p.Phe1643Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.118503239T=CA2003527640KMT2Ac.7446T= (p.Phe2482=)
c.7437T= (p.Phe2479=)
c.1386T= (p.Phe462=)
c.1644T= (p.Phe548=)
c.7419T= (p.Phe2473=)
c.7338T= (p.Phe2446=)
n.6689T=
c.7347T= (p.Phe2449=)
c.7224T= (p.Phe2408=)
n.1474T=
c.4830T= (p.Phe1610=)
c.7443T= (p.Phe2481=)
c.5253T= (p.Phe1751=)
c.4929T= (p.Phe1643=)
11g.118503240T>ACA382805211KMT2Ac.7447T>A (p.Leu2483Met)
c.7438T>A (p.Leu2480Met)
c.1387T>A (p.Leu463Met)
c.1645T>A (p.Leu549Met)
c.7420T>A (p.Leu2474Met)
c.7339T>A (p.Leu2447Met)
n.6690T>A
c.7348T>A (p.Leu2450Met)
c.7225T>A (p.Leu2409Met)
n.1475T>A
c.4831T>A (p.Leu1611Met)
c.7444T>A (p.Leu2482Met)
c.5254T>A (p.Leu1752Met)
c.4930T>A (p.Leu1644Met)
11g.118503240T>CCA477359342KMT2Ac.7447T>C (p.Leu2483=)
c.7438T>C (p.Leu2480=)
c.1387T>C (p.Leu463=)
c.1645T>C (p.Leu549=)
c.7420T>C (p.Leu2474=)
c.7339T>C (p.Leu2447=)
n.6690T>C
c.7348T>C (p.Leu2450=)
c.7225T>C (p.Leu2409=)
n.1475T>C
c.4831T>C (p.Leu1611=)
c.7444T>C (p.Leu2482=)
c.5254T>C (p.Leu1752=)
c.4930T>C (p.Leu1644=)
11g.118503240T>GCA382805212KMT2Ac.7447T>G (p.Leu2483Val)
c.7438T>G (p.Leu2480Val)
c.1387T>G (p.Leu463Val)
c.1645T>G (p.Leu549Val)
c.7420T>G (p.Leu2474Val)
c.7339T>G (p.Leu2447Val)
n.6690T>G
c.7348T>G (p.Leu2450Val)
c.7225T>G (p.Leu2409Val)
n.1475T>G
c.4831T>G (p.Leu1611Val)
c.7444T>G (p.Leu2482Val)
c.5254T>G (p.Leu1752Val)
c.4930T>G (p.Leu1644Val)
11g.118503241T>ACA382805214KMT2Ac.7448T>A (p.Leu2483Ter)
c.7439T>A (p.Leu2480Ter)
c.1388T>A (p.Leu463Ter)
c.1646T>A (p.Leu549Ter)
c.7421T>A (p.Leu2474Ter)
c.7340T>A (p.Leu2447Ter)
n.6691T>A
c.7349T>A (p.Leu2450Ter)
c.7226T>A (p.Leu2409Ter)
n.1476T>A
c.4832T>A (p.Leu1611Ter)
c.7445T>A (p.Leu2482Ter)
c.5255T>A (p.Leu1752Ter)
c.4931T>A (p.Leu1644Ter)
11g.118503241T>CCA382805216KMT2Ac.7448T>C (p.Leu2483Ser)
c.7439T>C (p.Leu2480Ser)
c.1388T>C (p.Leu463Ser)
c.1646T>C (p.Leu549Ser)
c.7421T>C (p.Leu2474Ser)
c.7340T>C (p.Leu2447Ser)
n.6691T>C
c.7349T>C (p.Leu2450Ser)
c.7226T>C (p.Leu2409Ser)
n.1476T>C
c.4832T>C (p.Leu1611Ser)
c.7445T>C (p.Leu2482Ser)
c.5255T>C (p.Leu1752Ser)
c.4931T>C (p.Leu1644Ser)
11g.118503241T>GCA382805218KMT2Ac.7448T>G (p.Leu2483Trp)
c.7439T>G (p.Leu2480Trp)
c.1388T>G (p.Leu463Trp)
c.1646T>G (p.Leu549Trp)
c.7421T>G (p.Leu2474Trp)
c.7340T>G (p.Leu2447Trp)
n.6691T>G
c.7349T>G (p.Leu2450Trp)
c.7226T>G (p.Leu2409Trp)
n.1476T>G
c.4832T>G (p.Leu1611Trp)
c.7445T>G (p.Leu2482Trp)
c.5255T>G (p.Leu1752Trp)
c.4931T>G (p.Leu1644Trp)
 dbSNP
11g.118503242G>ACA477359343KMT2Ac.7449G>A (p.Leu2483=)
c.7440G>A (p.Leu2480=)
c.1389G>A (p.Leu463=)
c.1647G>A (p.Leu549=)
c.7422G>A (p.Leu2474=)
c.7341G>A (p.Leu2447=)
n.6692G>A
c.7350G>A (p.Leu2450=)
c.7227G>A (p.Leu2409=)
n.1477G>A
c.4833G>A (p.Leu1611=)
c.7446G>A (p.Leu2482=)
c.5256G>A (p.Leu1752=)
c.4932G>A (p.Leu1644=)
11g.118503242G>CCA382805219KMT2Ac.7449G>C (p.Leu2483Phe)
c.7440G>C (p.Leu2480Phe)
c.1389G>C (p.Leu463Phe)
c.1647G>C (p.Leu549Phe)
c.7422G>C (p.Leu2474Phe)
c.7341G>C (p.Leu2447Phe)
n.6692G>C
c.7350G>C (p.Leu2450Phe)
c.7227G>C (p.Leu2409Phe)
n.1477G>C
c.4833G>C (p.Leu1611Phe)
c.7446G>C (p.Leu2482Phe)
c.5256G>C (p.Leu1752Phe)
c.4932G>C (p.Leu1644Phe)
11g.118503242G>TCA382805220KMT2Ac.7449G>T (p.Leu2483Phe)
c.7440G>T (p.Leu2480Phe)
c.1389G>T (p.Leu463Phe)
c.1647G>T (p.Leu549Phe)
c.7422G>T (p.Leu2474Phe)
c.7341G>T (p.Leu2447Phe)
n.6692G>T
c.7350G>T (p.Leu2450Phe)
c.7227G>T (p.Leu2409Phe)
n.1477G>T
c.4833G>T (p.Leu1611Phe)
c.7446G>T (p.Leu2482Phe)
c.5256G>T (p.Leu1752Phe)
c.4932G>T (p.Leu1644Phe)
11g.118503243delCA645575344KMT2Ac.7450del (p.Glu2484AsnfsTer5)
c.7441del (p.Glu2481AsnfsTer5)
c.1390del (p.Glu464AsnfsTer5)
c.1648del (p.Glu550AsnfsTer5)
c.7423del (p.Glu2475AsnfsTer5)
c.7342del (p.Glu2448AsnfsTer5)
n.6693del
c.7351del (p.Glu2451AsnfsTer5)
c.7228del (p.Glu2410AsnfsTer5)
n.1478del
c.4834del (p.Glu1612AsnfsTer5)
c.7447del (p.Glu2483AsnfsTer5)
c.5257del (p.Glu1753AsnfsTer5)
c.4933del (p.Glu1645AsnfsTer5)
 COSMIC COSMIC
11g.118503242_118503250delCA942727672KMT2Ac.7449_7457del (p.Leu2483_Gly2486delinsPhe)
c.7440_7448del (p.Leu2480_Gly2483delinsPhe)
c.1389_1397del (p.Leu463_Gly466delinsPhe)
c.1647_1655del (p.Leu549_Gly552delinsPhe)
c.7422_7430del (p.Leu2474_Gly2477delinsPhe)
c.7341_7349del (p.Leu2447_Gly2450delinsPhe)
n.6692_6700del
c.7350_7358del (p.Leu2450_Gly2453delinsPhe)
c.7227_7235del (p.Leu2409_Gly2412delinsPhe)
n.1477_1485del
c.4833_4841del (p.Leu1611_Gly1614delinsPhe)
c.7446_7454del (p.Leu2482_Gly2485delinsPhe)
c.5256_5264del (p.Leu1752_Gly1755delinsPhe)
c.4932_4940del (p.Leu1644_Gly1647delinsPhe)
 gnomAD v3 gnomAD v4
11g.118503243G>ACA382805223KMT2Ac.7450G>A (p.Glu2484Lys)
c.7441G>A (p.Glu2481Lys)
c.1390G>A (p.Glu464Lys)
c.1648G>A (p.Glu550Lys)
c.7423G>A (p.Glu2475Lys)
c.7342G>A (p.Glu2448Lys)
n.6693G>A
c.7351G>A (p.Glu2451Lys)
c.7228G>A (p.Glu2410Lys)
n.1478G>A
c.4834G>A (p.Glu1612Lys)
c.7447G>A (p.Glu2483Lys)
c.5257G>A (p.Glu1753Lys)
c.4933G>A (p.Glu1645Lys)
11g.118503243G>CCA382805224KMT2Ac.7450G>C (p.Glu2484Gln)
c.7441G>C (p.Glu2481Gln)
c.1390G>C (p.Glu464Gln)
c.1648G>C (p.Glu550Gln)
c.7423G>C (p.Glu2475Gln)
c.7342G>C (p.Glu2448Gln)
n.6693G>C
c.7351G>C (p.Glu2451Gln)
c.7228G>C (p.Glu2410Gln)
n.1478G>C
c.4834G>C (p.Glu1612Gln)
c.7447G>C (p.Glu2483Gln)
c.5257G>C (p.Glu1753Gln)
c.4933G>C (p.Glu1645Gln)
11g.118503243G>TCA382805225KMT2Ac.7450G>T (p.Glu2484Ter)
c.7441G>T (p.Glu2481Ter)
c.1390G>T (p.Glu464Ter)
c.1648G>T (p.Glu550Ter)
c.7423G>T (p.Glu2475Ter)
c.7342G>T (p.Glu2448Ter)
n.6693G>T
c.7351G>T (p.Glu2451Ter)
c.7228G>T (p.Glu2410Ter)
n.1478G>T
c.4834G>T (p.Glu1612Ter)
c.7447G>T (p.Glu2483Ter)
c.5257G>T (p.Glu1753Ter)
c.4933G>T (p.Glu1645Ter)
11g.118503244A>CCA382805227KMT2Ac.7451A>C (p.Glu2484Ala)
c.7442A>C (p.Glu2481Ala)
c.1391A>C (p.Glu464Ala)
c.1649A>C (p.Glu550Ala)
c.7424A>C (p.Glu2475Ala)
c.7343A>C (p.Glu2448Ala)
n.6694A>C
c.7352A>C (p.Glu2451Ala)
c.7229A>C (p.Glu2410Ala)
n.1479A>C
c.4835A>C (p.Glu1612Ala)
c.7448A>C (p.Glu2483Ala)
c.5258A>C (p.Glu1753Ala)
c.4934A>C (p.Glu1645Ala)
11g.118503244A>GCA382805229KMT2Ac.7451A>G (p.Glu2484Gly)
c.7442A>G (p.Glu2481Gly)
c.1391A>G (p.Glu464Gly)
c.1649A>G (p.Glu550Gly)
c.7424A>G (p.Glu2475Gly)
c.7343A>G (p.Glu2448Gly)
n.6694A>G
c.7352A>G (p.Glu2451Gly)
c.7229A>G (p.Glu2410Gly)
n.1479A>G
c.4835A>G (p.Glu1612Gly)
c.7448A>G (p.Glu2483Gly)
c.5258A>G (p.Glu1753Gly)
c.4934A>G (p.Glu1645Gly)
11g.118503244A>TCA382805230KMT2Ac.7451A>T (p.Glu2484Val)
c.7442A>T (p.Glu2481Val)
c.1391A>T (p.Glu464Val)
c.1649A>T (p.Glu550Val)
c.7424A>T (p.Glu2475Val)
c.7343A>T (p.Glu2448Val)
n.6694A>T
c.7352A>T (p.Glu2451Val)
c.7229A>T (p.Glu2410Val)
n.1479A>T
c.4835A>T (p.Glu1612Val)
c.7448A>T (p.Glu2483Val)
c.5258A>T (p.Glu1753Val)
c.4934A>T (p.Glu1645Val)

Number of alleles fetched