Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503356T>ACA382805679KMT2Ac.7563T>A (p.Asp2521Glu)
c.7554T>A (p.Asp2518Glu)
c.1503T>A (p.Asp501Glu)
c.1761T>A (p.Asp587Glu)
c.7536T>A (p.Asp2512Glu)
c.7455T>A (p.Asp2485Glu)
n.6806T>A
c.7464T>A (p.Asp2488Glu)
c.7341T>A (p.Asp2447Glu)
n.1591T>A
c.4947T>A (p.Asp1649Glu)
c.7560T>A (p.Asp2520Glu)
c.5370T>A (p.Asp1790Glu)
c.5046T>A (p.Asp1682Glu)
11g.118503356T>CCA229526863KMT2Ac.7563T>C (p.Asp2521=)
c.7554T>C (p.Asp2518=)
c.1503T>C (p.Asp501=)
c.1761T>C (p.Asp587=)
c.7536T>C (p.Asp2512=)
c.7455T>C (p.Asp2485=)
n.6806T>C
c.7464T>C (p.Asp2488=)
c.7341T>C (p.Asp2447=)
n.1591T>C
c.4947T>C (p.Asp1649=)
c.7560T>C (p.Asp2520=)
c.5370T>C (p.Asp1790=)
c.5046T>C (p.Asp1682=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503356T>GCA382805681KMT2Ac.7563T>G (p.Asp2521Glu)
c.7554T>G (p.Asp2518Glu)
c.1503T>G (p.Asp501Glu)
c.1761T>G (p.Asp587Glu)
c.7536T>G (p.Asp2512Glu)
c.7455T>G (p.Asp2485Glu)
n.6806T>G
c.7464T>G (p.Asp2488Glu)
c.7341T>G (p.Asp2447Glu)
n.1591T>G
c.4947T>G (p.Asp1649Glu)
c.7560T>G (p.Asp2520Glu)
c.5370T>G (p.Asp1790Glu)
c.5046T>G (p.Asp1682Glu)
11g.118503356T=CA2003527768KMT2Ac.7563T= (p.Asp2521=)
c.7554T= (p.Asp2518=)
c.1503T= (p.Asp501=)
c.1761T= (p.Asp587=)
c.7536T= (p.Asp2512=)
c.7455T= (p.Asp2485=)
n.6806T=
c.7464T= (p.Asp2488=)
c.7341T= (p.Asp2447=)
n.1591T=
c.4947T= (p.Asp1649=)
c.7560T= (p.Asp2520=)
c.5370T= (p.Asp1790=)
c.5046T= (p.Asp1682=)
11g.118503356dupCA645575345KMT2Ac.7563dup (p.Lys2522Ter)
c.7554dup (p.Lys2519Ter)
c.1503dup (p.Lys502Ter)
c.1761dup (p.Lys588Ter)
c.7536dup (p.Lys2513Ter)
c.7455dup (p.Lys2486Ter)
n.6806dup
c.7464dup (p.Lys2489Ter)
c.7341dup (p.Lys2448Ter)
n.1591dup
c.4947dup (p.Lys1650Ter)
c.7560dup (p.Lys2521Ter)
c.5370dup (p.Lys1791Ter)
c.5046dup (p.Lys1683Ter)
 COSMIC COSMIC
11g.118503357A>CCA382805682KMT2Ac.7564A>C (p.Lys2522Gln)
c.7555A>C (p.Lys2519Gln)
c.1504A>C (p.Lys502Gln)
c.1762A>C (p.Lys588Gln)
c.7537A>C (p.Lys2513Gln)
c.7456A>C (p.Lys2486Gln)
n.6807A>C
c.7465A>C (p.Lys2489Gln)
c.7342A>C (p.Lys2448Gln)
n.1592A>C
c.4948A>C (p.Lys1650Gln)
c.7561A>C (p.Lys2521Gln)
c.5371A>C (p.Lys1791Gln)
c.5047A>C (p.Lys1683Gln)
11g.118503357A>GCA382805684KMT2Ac.7564A>G (p.Lys2522Glu)
c.7555A>G (p.Lys2519Glu)
c.1504A>G (p.Lys502Glu)
c.1762A>G (p.Lys588Glu)
c.7537A>G (p.Lys2513Glu)
c.7456A>G (p.Lys2486Glu)
n.6807A>G
c.7465A>G (p.Lys2489Glu)
c.7342A>G (p.Lys2448Glu)
n.1592A>G
c.4948A>G (p.Lys1650Glu)
c.7561A>G (p.Lys2521Glu)
c.5371A>G (p.Lys1791Glu)
c.5047A>G (p.Lys1683Glu)
11g.118503357A>TCA382805685KMT2Ac.7564A>T (p.Lys2522Ter)
c.7555A>T (p.Lys2519Ter)
c.1504A>T (p.Lys502Ter)
c.1762A>T (p.Lys588Ter)
c.7537A>T (p.Lys2513Ter)
c.7456A>T (p.Lys2486Ter)
n.6807A>T
c.7465A>T (p.Lys2489Ter)
c.7342A>T (p.Lys2448Ter)
n.1592A>T
c.4948A>T (p.Lys1650Ter)
c.7561A>T (p.Lys2521Ter)
c.5371A>T (p.Lys1791Ter)
c.5047A>T (p.Lys1683Ter)
11g.118503358A=CA2003527773KMT2Ac.7565A= (p.Lys2522=)
c.7556A= (p.Lys2519=)
c.1505A= (p.Lys502=)
c.1763A= (p.Lys588=)
c.7538A= (p.Lys2513=)
c.7457A= (p.Lys2486=)
n.6808A=
c.7466A= (p.Lys2489=)
c.7343A= (p.Lys2448=)
n.1593A=
c.4949A= (p.Lys1650=)
c.7562A= (p.Lys2521=)
c.5372A= (p.Lys1791=)
c.5048A= (p.Lys1683=)
11g.118503358A>CCA382805689KMT2Ac.7565A>C (p.Lys2522Thr)
c.7556A>C (p.Lys2519Thr)
c.1505A>C (p.Lys502Thr)
c.1763A>C (p.Lys588Thr)
c.7538A>C (p.Lys2513Thr)
c.7457A>C (p.Lys2486Thr)
n.6808A>C
c.7466A>C (p.Lys2489Thr)
c.7343A>C (p.Lys2448Thr)
n.1593A>C
c.4949A>C (p.Lys1650Thr)
c.7562A>C (p.Lys2521Thr)
c.5372A>C (p.Lys1791Thr)
c.5048A>C (p.Lys1683Thr)
 ClinVar dbSNP
11g.118503358A>GCA382805690KMT2Ac.7565A>G (p.Lys2522Arg)
c.7556A>G (p.Lys2519Arg)
c.1505A>G (p.Lys502Arg)
c.1763A>G (p.Lys588Arg)
c.7538A>G (p.Lys2513Arg)
c.7457A>G (p.Lys2486Arg)
n.6808A>G
c.7466A>G (p.Lys2489Arg)
c.7343A>G (p.Lys2448Arg)
n.1593A>G
c.4949A>G (p.Lys1650Arg)
c.7562A>G (p.Lys2521Arg)
c.5372A>G (p.Lys1791Arg)
c.5048A>G (p.Lys1683Arg)
11g.118503358A>TCA382805687KMT2Ac.7565A>T (p.Lys2522Met)
c.7556A>T (p.Lys2519Met)
c.1505A>T (p.Lys502Met)
c.1763A>T (p.Lys588Met)
c.7538A>T (p.Lys2513Met)
c.7457A>T (p.Lys2486Met)
n.6808A>T
c.7466A>T (p.Lys2489Met)
c.7343A>T (p.Lys2448Met)
n.1593A>T
c.4949A>T (p.Lys1650Met)
c.7562A>T (p.Lys2521Met)
c.5372A>T (p.Lys1791Met)
c.5048A>T (p.Lys1683Met)
11g.118503359G>ACA477359448KMT2Ac.7566G>A (p.Lys2522=)
c.7557G>A (p.Lys2519=)
c.1506G>A (p.Lys502=)
c.1764G>A (p.Lys588=)
c.7539G>A (p.Lys2513=)
c.7458G>A (p.Lys2486=)
n.6809G>A
c.7467G>A (p.Lys2489=)
c.7344G>A (p.Lys2448=)
n.1594G>A
c.4950G>A (p.Lys1650=)
c.7563G>A (p.Lys2521=)
c.5373G>A (p.Lys1791=)
c.5049G>A (p.Lys1683=)
 dbSNP
11g.118503359G>CCA382805693KMT2Ac.7566G>C (p.Lys2522Asn)
c.7557G>C (p.Lys2519Asn)
c.1506G>C (p.Lys502Asn)
c.1764G>C (p.Lys588Asn)
c.7539G>C (p.Lys2513Asn)
c.7458G>C (p.Lys2486Asn)
n.6809G>C
c.7467G>C (p.Lys2489Asn)
c.7344G>C (p.Lys2448Asn)
n.1594G>C
c.4950G>C (p.Lys1650Asn)
c.7563G>C (p.Lys2521Asn)
c.5373G>C (p.Lys1791Asn)
c.5049G>C (p.Lys1683Asn)
11g.118503359G=CA2003527776KMT2Ac.7566G= (p.Lys2522=)
c.7557G= (p.Lys2519=)
c.1506G= (p.Lys502=)
c.1764G= (p.Lys588=)
c.7539G= (p.Lys2513=)
c.7458G= (p.Lys2486=)
n.6809G=
c.7467G= (p.Lys2489=)
c.7344G= (p.Lys2448=)
n.1594G=
c.4950G= (p.Lys1650=)
c.7563G= (p.Lys2521=)
c.5373G= (p.Lys1791=)
c.5049G= (p.Lys1683=)
11g.118503359G>TCA382805692KMT2Ac.7566G>T (p.Lys2522Asn)
c.7557G>T (p.Lys2519Asn)
c.1506G>T (p.Lys502Asn)
c.1764G>T (p.Lys588Asn)
c.7539G>T (p.Lys2513Asn)
c.7458G>T (p.Lys2486Asn)
n.6809G>T
c.7467G>T (p.Lys2489Asn)
c.7344G>T (p.Lys2448Asn)
n.1594G>T
c.4950G>T (p.Lys1650Asn)
c.7563G>T (p.Lys2521Asn)
c.5373G>T (p.Lys1791Asn)
c.5049G>T (p.Lys1683Asn)
11g.118503360A>CCA382805696KMT2Ac.7567A>C (p.Ile2523Leu)
c.7558A>C (p.Ile2520Leu)
c.1507A>C (p.Ile503Leu)
c.1765A>C (p.Ile589Leu)
c.7540A>C (p.Ile2514Leu)
c.7459A>C (p.Ile2487Leu)
n.6810A>C
c.7468A>C (p.Ile2490Leu)
c.7345A>C (p.Ile2449Leu)
n.1595A>C
c.4951A>C (p.Ile1651Leu)
c.7564A>C (p.Ile2522Leu)
c.5374A>C (p.Ile1792Leu)
c.5050A>C (p.Ile1684Leu)
11g.118503360A>GCA382805697KMT2Ac.7567A>G (p.Ile2523Val)
c.7558A>G (p.Ile2520Val)
c.1507A>G (p.Ile503Val)
c.1765A>G (p.Ile589Val)
c.7540A>G (p.Ile2514Val)
c.7459A>G (p.Ile2487Val)
n.6810A>G
c.7468A>G (p.Ile2490Val)
c.7345A>G (p.Ile2449Val)
n.1595A>G
c.4951A>G (p.Ile1651Val)
c.7564A>G (p.Ile2522Val)
c.5374A>G (p.Ile1792Val)
c.5050A>G (p.Ile1684Val)
11g.118503360A>TCA382805699KMT2Ac.7567A>T (p.Ile2523Phe)
c.7558A>T (p.Ile2520Phe)
c.1507A>T (p.Ile503Phe)
c.1765A>T (p.Ile589Phe)
c.7540A>T (p.Ile2514Phe)
c.7459A>T (p.Ile2487Phe)
n.6810A>T
c.7468A>T (p.Ile2490Phe)
c.7345A>T (p.Ile2449Phe)
n.1595A>T
c.4951A>T (p.Ile1651Phe)
c.7564A>T (p.Ile2522Phe)
c.5374A>T (p.Ile1792Phe)
c.5050A>T (p.Ile1684Phe)
11g.118503361T>ACA382805701KMT2Ac.7568T>A (p.Ile2523Asn)
c.7559T>A (p.Ile2520Asn)
c.1508T>A (p.Ile503Asn)
c.1766T>A (p.Ile589Asn)
c.7541T>A (p.Ile2514Asn)
c.7460T>A (p.Ile2487Asn)
n.6811T>A
c.7469T>A (p.Ile2490Asn)
c.7346T>A (p.Ile2449Asn)
n.1596T>A
c.4952T>A (p.Ile1651Asn)
c.7565T>A (p.Ile2522Asn)
c.5375T>A (p.Ile1792Asn)
c.5051T>A (p.Ile1684Asn)
11g.118503361T>CCA382805702KMT2Ac.7568T>C (p.Ile2523Thr)
c.7559T>C (p.Ile2520Thr)
c.1508T>C (p.Ile503Thr)
c.1766T>C (p.Ile589Thr)
c.7541T>C (p.Ile2514Thr)
c.7460T>C (p.Ile2487Thr)
n.6811T>C
c.7469T>C (p.Ile2490Thr)
c.7346T>C (p.Ile2449Thr)
n.1596T>C
c.4952T>C (p.Ile1651Thr)
c.7565T>C (p.Ile2522Thr)
c.5375T>C (p.Ile1792Thr)
c.5051T>C (p.Ile1684Thr)
 ClinVar gnomAD v4
11g.118503361T>GCA382805704KMT2Ac.7568T>G (p.Ile2523Ser)
c.7559T>G (p.Ile2520Ser)
c.1508T>G (p.Ile503Ser)
c.1766T>G (p.Ile589Ser)
c.7541T>G (p.Ile2514Ser)
c.7460T>G (p.Ile2487Ser)
n.6811T>G
c.7469T>G (p.Ile2490Ser)
c.7346T>G (p.Ile2449Ser)
n.1596T>G
c.4952T>G (p.Ile1651Ser)
c.7565T>G (p.Ile2522Ser)
c.5375T>G (p.Ile1792Ser)
c.5051T>G (p.Ile1684Ser)
11g.118503362T>ACA477359449KMT2Ac.7569T>A (p.Ile2523=)
c.7560T>A (p.Ile2520=)
c.1509T>A (p.Ile503=)
c.1767T>A (p.Ile589=)
c.7542T>A (p.Ile2514=)
c.7461T>A (p.Ile2487=)
n.6812T>A
c.7470T>A (p.Ile2490=)
c.7347T>A (p.Ile2449=)
n.1597T>A
c.4953T>A (p.Ile1651=)
c.7566T>A (p.Ile2522=)
c.5376T>A (p.Ile1792=)
c.5052T>A (p.Ile1684=)
11g.118503362T>CCA477359450KMT2Ac.7569T>C (p.Ile2523=)
c.7560T>C (p.Ile2520=)
c.1509T>C (p.Ile503=)
c.1767T>C (p.Ile589=)
c.7542T>C (p.Ile2514=)
c.7461T>C (p.Ile2487=)
n.6812T>C
c.7470T>C (p.Ile2490=)
c.7347T>C (p.Ile2449=)
n.1597T>C
c.4953T>C (p.Ile1651=)
c.7566T>C (p.Ile2522=)
c.5376T>C (p.Ile1792=)
c.5052T>C (p.Ile1684=)
11g.118503362T>GCA382805706KMT2Ac.7569T>G (p.Ile2523Met)
c.7560T>G (p.Ile2520Met)
c.1509T>G (p.Ile503Met)
c.1767T>G (p.Ile589Met)
c.7542T>G (p.Ile2514Met)
c.7461T>G (p.Ile2487Met)
n.6812T>G
c.7470T>G (p.Ile2490Met)
c.7347T>G (p.Ile2449Met)
n.1597T>G
c.4953T>G (p.Ile1651Met)
c.7566T>G (p.Ile2522Met)
c.5376T>G (p.Ile1792Met)
c.5052T>G (p.Ile1684Met)
11g.118503363G>ACA382805708KMT2Ac.7570G>A (p.Gly2524Ser)
c.7561G>A (p.Gly2521Ser)
c.1510G>A (p.Gly504Ser)
c.1768G>A (p.Gly590Ser)
c.7543G>A (p.Gly2515Ser)
c.7462G>A (p.Gly2488Ser)
n.6813G>A
c.7471G>A (p.Gly2491Ser)
c.7348G>A (p.Gly2450Ser)
n.1598G>A
c.4954G>A (p.Gly1652Ser)
c.7567G>A (p.Gly2523Ser)
c.5377G>A (p.Gly1793Ser)
c.5053G>A (p.Gly1685Ser)
11g.118503363G>CCA382805710KMT2Ac.7570G>C (p.Gly2524Arg)
c.7561G>C (p.Gly2521Arg)
c.1510G>C (p.Gly504Arg)
c.1768G>C (p.Gly590Arg)
c.7543G>C (p.Gly2515Arg)
c.7462G>C (p.Gly2488Arg)
n.6813G>C
c.7471G>C (p.Gly2491Arg)
c.7348G>C (p.Gly2450Arg)
n.1598G>C
c.4954G>C (p.Gly1652Arg)
c.7567G>C (p.Gly2523Arg)
c.5377G>C (p.Gly1793Arg)
c.5053G>C (p.Gly1685Arg)
11g.118503363G>TCA382805712KMT2Ac.7570G>T (p.Gly2524Cys)
c.7561G>T (p.Gly2521Cys)
c.1510G>T (p.Gly504Cys)
c.1768G>T (p.Gly590Cys)
c.7543G>T (p.Gly2515Cys)
c.7462G>T (p.Gly2488Cys)
n.6813G>T
c.7471G>T (p.Gly2491Cys)
c.7348G>T (p.Gly2450Cys)
n.1598G>T
c.4954G>T (p.Gly1652Cys)
c.7567G>T (p.Gly2523Cys)
c.5377G>T (p.Gly1793Cys)
c.5053G>T (p.Gly1685Cys)
11g.118503364G>ACA382805713KMT2Ac.7571G>A (p.Gly2524Asp)
c.7562G>A (p.Gly2521Asp)
c.1511G>A (p.Gly504Asp)
c.1769G>A (p.Gly590Asp)
c.7544G>A (p.Gly2515Asp)
c.7463G>A (p.Gly2488Asp)
n.6814G>A
c.7472G>A (p.Gly2491Asp)
c.7349G>A (p.Gly2450Asp)
n.1599G>A
c.4955G>A (p.Gly1652Asp)
c.7568G>A (p.Gly2523Asp)
c.5378G>A (p.Gly1793Asp)
c.5054G>A (p.Gly1685Asp)
 dbSNP gnomAD v4
11g.118503364G>CCA382805715KMT2Ac.7571G>C (p.Gly2524Ala)
c.7562G>C (p.Gly2521Ala)
c.1511G>C (p.Gly504Ala)
c.1769G>C (p.Gly590Ala)
c.7544G>C (p.Gly2515Ala)
c.7463G>C (p.Gly2488Ala)
n.6814G>C
c.7472G>C (p.Gly2491Ala)
c.7349G>C (p.Gly2450Ala)
n.1599G>C
c.4955G>C (p.Gly1652Ala)
c.7568G>C (p.Gly2523Ala)
c.5378G>C (p.Gly1793Ala)
c.5054G>C (p.Gly1685Ala)
11g.118503364G=CA2003527778KMT2Ac.7571G= (p.Gly2524=)
c.7562G= (p.Gly2521=)
c.1511G= (p.Gly504=)
c.1769G= (p.Gly590=)
c.7544G= (p.Gly2515=)
c.7463G= (p.Gly2488=)
n.6814G=
c.7472G= (p.Gly2491=)
c.7349G= (p.Gly2450=)
n.1599G=
c.4955G= (p.Gly1652=)
c.7568G= (p.Gly2523=)
c.5378G= (p.Gly1793=)
c.5054G= (p.Gly1685=)
11g.118503364G>TCA382805716KMT2Ac.7571G>T (p.Gly2524Val)
c.7562G>T (p.Gly2521Val)
c.1511G>T (p.Gly504Val)
c.1769G>T (p.Gly590Val)
c.7544G>T (p.Gly2515Val)
c.7463G>T (p.Gly2488Val)
n.6814G>T
c.7472G>T (p.Gly2491Val)
c.7349G>T (p.Gly2450Val)
n.1599G>T
c.4955G>T (p.Gly1652Val)
c.7568G>T (p.Gly2523Val)
c.5378G>T (p.Gly1793Val)
c.5054G>T (p.Gly1685Val)
11g.118503365T>ACA477359451KMT2Ac.7572T>A (p.Gly2524=)
c.7563T>A (p.Gly2521=)
c.1512T>A (p.Gly504=)
c.1770T>A (p.Gly590=)
c.7545T>A (p.Gly2515=)
c.7464T>A (p.Gly2488=)
n.6815T>A
c.7473T>A (p.Gly2491=)
c.7350T>A (p.Gly2450=)
n.1600T>A
c.4956T>A (p.Gly1652=)
c.7569T>A (p.Gly2523=)
c.5379T>A (p.Gly1793=)
c.5055T>A (p.Gly1685=)
11g.118503365T>CCA477359453KMT2Ac.7572T>C (p.Gly2524=)
c.7563T>C (p.Gly2521=)
c.1512T>C (p.Gly504=)
c.1770T>C (p.Gly590=)
c.7545T>C (p.Gly2515=)
c.7464T>C (p.Gly2488=)
n.6815T>C
c.7473T>C (p.Gly2491=)
c.7350T>C (p.Gly2450=)
n.1600T>C
c.4956T>C (p.Gly1652=)
c.7569T>C (p.Gly2523=)
c.5379T>C (p.Gly1793=)
c.5055T>C (p.Gly1685=)
11g.118503365T>GCA477359452KMT2Ac.7572T>G (p.Gly2524=)
c.7563T>G (p.Gly2521=)
c.1512T>G (p.Gly504=)
c.1770T>G (p.Gly590=)
c.7545T>G (p.Gly2515=)
c.7464T>G (p.Gly2488=)
n.6815T>G
c.7473T>G (p.Gly2491=)
c.7350T>G (p.Gly2450=)
n.1600T>G
c.4956T>G (p.Gly1652=)
c.7569T>G (p.Gly2523=)
c.5379T>G (p.Gly1793=)
c.5055T>G (p.Gly1685=)
11g.118503366G>ACA382805722KMT2Ac.7573G>A (p.Asp2525Asn)
c.7564G>A (p.Asp2522Asn)
c.1513G>A (p.Asp505Asn)
c.1771G>A (p.Asp591Asn)
c.7546G>A (p.Asp2516Asn)
c.7465G>A (p.Asp2489Asn)
n.6816G>A
c.7474G>A (p.Asp2492Asn)
c.7351G>A (p.Asp2451Asn)
n.1601G>A
c.4957G>A (p.Asp1653Asn)
c.7570G>A (p.Asp2524Asn)
c.5380G>A (p.Asp1794Asn)
c.5056G>A (p.Asp1686Asn)
11g.118503366G>CCA382805718KMT2Ac.7573G>C (p.Asp2525His)
c.7564G>C (p.Asp2522His)
c.1513G>C (p.Asp505His)
c.1771G>C (p.Asp591His)
c.7546G>C (p.Asp2516His)
c.7465G>C (p.Asp2489His)
n.6816G>C
c.7474G>C (p.Asp2492His)
c.7351G>C (p.Asp2451His)
n.1601G>C
c.4957G>C (p.Asp1653His)
c.7570G>C (p.Asp2524His)
c.5380G>C (p.Asp1794His)
c.5056G>C (p.Asp1686His)
11g.118503366G>TCA382805720KMT2Ac.7573G>T (p.Asp2525Tyr)
c.7564G>T (p.Asp2522Tyr)
c.1513G>T (p.Asp505Tyr)
c.1771G>T (p.Asp591Tyr)
c.7546G>T (p.Asp2516Tyr)
c.7465G>T (p.Asp2489Tyr)
n.6816G>T
c.7474G>T (p.Asp2492Tyr)
c.7351G>T (p.Asp2451Tyr)
n.1601G>T
c.4957G>T (p.Asp1653Tyr)
c.7570G>T (p.Asp2524Tyr)
c.5380G>T (p.Asp1794Tyr)
c.5056G>T (p.Asp1686Tyr)
11g.118503367A=CA2003527781KMT2Ac.7574A= (p.Asp2525=)
c.7565A= (p.Asp2522=)
c.1514A= (p.Asp505=)
c.1772A= (p.Asp591=)
c.7547A= (p.Asp2516=)
c.7466A= (p.Asp2489=)
n.6817A=
c.7475A= (p.Asp2492=)
c.7352A= (p.Asp2451=)
n.1602A=
c.4958A= (p.Asp1653=)
c.7571A= (p.Asp2524=)
c.5381A= (p.Asp1794=)
c.5057A= (p.Asp1686=)
11g.118503367A>CCA382805723KMT2Ac.7574A>C (p.Asp2525Ala)
c.7565A>C (p.Asp2522Ala)
c.1514A>C (p.Asp505Ala)
c.1772A>C (p.Asp591Ala)
c.7547A>C (p.Asp2516Ala)
c.7466A>C (p.Asp2489Ala)
n.6817A>C
c.7475A>C (p.Asp2492Ala)
c.7352A>C (p.Asp2451Ala)
n.1602A>C
c.4958A>C (p.Asp1653Ala)
c.7571A>C (p.Asp2524Ala)
c.5381A>C (p.Asp1794Ala)
c.5057A>C (p.Asp1686Ala)
11g.118503367A>GCA6304401KMT2Ac.7574A>G (p.Asp2525Gly)
c.7565A>G (p.Asp2522Gly)
c.1514A>G (p.Asp505Gly)
c.1772A>G (p.Asp591Gly)
c.7547A>G (p.Asp2516Gly)
c.7466A>G (p.Asp2489Gly)
n.6817A>G
c.7475A>G (p.Asp2492Gly)
c.7352A>G (p.Asp2451Gly)
n.1602A>G
c.4958A>G (p.Asp1653Gly)
c.7571A>G (p.Asp2524Gly)
c.5381A>G (p.Asp1794Gly)
c.5057A>G (p.Asp1686Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503367A>TCA382805726KMT2Ac.7574A>T (p.Asp2525Val)
c.7565A>T (p.Asp2522Val)
c.1514A>T (p.Asp505Val)
c.1772A>T (p.Asp591Val)
c.7547A>T (p.Asp2516Val)
c.7466A>T (p.Asp2489Val)
n.6817A>T
c.7475A>T (p.Asp2492Val)
c.7352A>T (p.Asp2451Val)
n.1602A>T
c.4958A>T (p.Asp1653Val)
c.7571A>T (p.Asp2524Val)
c.5381A>T (p.Asp1794Val)
c.5057A>T (p.Asp1686Val)
11g.118503368T>ACA382805727KMT2Ac.7575T>A (p.Asp2525Glu)
c.7566T>A (p.Asp2522Glu)
c.1515T>A (p.Asp505Glu)
c.1773T>A (p.Asp591Glu)
c.7548T>A (p.Asp2516Glu)
c.7467T>A (p.Asp2489Glu)
n.6818T>A
c.7476T>A (p.Asp2492Glu)
c.7353T>A (p.Asp2451Glu)
n.1603T>A
c.4959T>A (p.Asp1653Glu)
c.7572T>A (p.Asp2524Glu)
c.5382T>A (p.Asp1794Glu)
c.5058T>A (p.Asp1686Glu)
 dbSNP
11g.118503368T>CCA477359454KMT2Ac.7575T>C (p.Asp2525=)
c.7566T>C (p.Asp2522=)
c.1515T>C (p.Asp505=)
c.1773T>C (p.Asp591=)
c.7548T>C (p.Asp2516=)
c.7467T>C (p.Asp2489=)
n.6818T>C
c.7476T>C (p.Asp2492=)
c.7353T>C (p.Asp2451=)
n.1603T>C
c.4959T>C (p.Asp1653=)
c.7572T>C (p.Asp2524=)
c.5382T>C (p.Asp1794=)
c.5058T>C (p.Asp1686=)
11g.118503368T>GCA382805729KMT2Ac.7575T>G (p.Asp2525Glu)
c.7566T>G (p.Asp2522Glu)
c.1515T>G (p.Asp505Glu)
c.1773T>G (p.Asp591Glu)
c.7548T>G (p.Asp2516Glu)
c.7467T>G (p.Asp2489Glu)
n.6818T>G
c.7476T>G (p.Asp2492Glu)
c.7353T>G (p.Asp2451Glu)
n.1603T>G
c.4959T>G (p.Asp1653Glu)
c.7572T>G (p.Asp2524Glu)
c.5382T>G (p.Asp1794Glu)
c.5058T>G (p.Asp1686Glu)
11g.118503369A=CA2003527784KMT2Ac.7576A= (p.Lys2526=)
c.7567A= (p.Lys2523=)
c.1516A= (p.Lys506=)
c.1774A= (p.Lys592=)
c.7549A= (p.Lys2517=)
c.7468A= (p.Lys2490=)
n.6819A=
c.7477A= (p.Lys2493=)
c.7354A= (p.Lys2452=)
n.1604A=
c.4960A= (p.Lys1654=)
c.7573A= (p.Lys2525=)
c.5383A= (p.Lys1795=)
c.5059A= (p.Lys1687=)
11g.118503369A>CCA382805731KMT2Ac.7576A>C (p.Lys2526Gln)
c.7567A>C (p.Lys2523Gln)
c.1516A>C (p.Lys506Gln)
c.1774A>C (p.Lys592Gln)
c.7549A>C (p.Lys2517Gln)
c.7468A>C (p.Lys2490Gln)
n.6819A>C
c.7477A>C (p.Lys2493Gln)
c.7354A>C (p.Lys2452Gln)
n.1604A>C
c.4960A>C (p.Lys1654Gln)
c.7573A>C (p.Lys2525Gln)
c.5383A>C (p.Lys1795Gln)
c.5059A>C (p.Lys1687Gln)
11g.118503369A>GCA382805733KMT2Ac.7576A>G (p.Lys2526Glu)
c.7567A>G (p.Lys2523Glu)
c.1516A>G (p.Lys506Glu)
c.1774A>G (p.Lys592Glu)
c.7549A>G (p.Lys2517Glu)
c.7468A>G (p.Lys2490Glu)
n.6819A>G
c.7477A>G (p.Lys2493Glu)
c.7354A>G (p.Lys2452Glu)
n.1604A>G
c.4960A>G (p.Lys1654Glu)
c.7573A>G (p.Lys2525Glu)
c.5383A>G (p.Lys1795Glu)
c.5059A>G (p.Lys1687Glu)
 ClinVar dbSNP gnomAD v4
11g.118503369A>TCA382805735KMT2Ac.7576A>T (p.Lys2526Ter)
c.7567A>T (p.Lys2523Ter)
c.1516A>T (p.Lys506Ter)
c.1774A>T (p.Lys592Ter)
c.7549A>T (p.Lys2517Ter)
c.7468A>T (p.Lys2490Ter)
n.6819A>T
c.7477A>T (p.Lys2493Ter)
c.7354A>T (p.Lys2452Ter)
n.1604A>T
c.4960A>T (p.Lys1654Ter)
c.7573A>T (p.Lys2525Ter)
c.5383A>T (p.Lys1795Ter)
c.5059A>T (p.Lys1687Ter)
11g.118503370A>CCA382805736KMT2Ac.7577A>C (p.Lys2526Thr)
c.7568A>C (p.Lys2523Thr)
c.1517A>C (p.Lys506Thr)
c.1775A>C (p.Lys592Thr)
c.7550A>C (p.Lys2517Thr)
c.7469A>C (p.Lys2490Thr)
n.6820A>C
c.7478A>C (p.Lys2493Thr)
c.7355A>C (p.Lys2452Thr)
n.1605A>C
c.4961A>C (p.Lys1654Thr)
c.7574A>C (p.Lys2525Thr)
c.5384A>C (p.Lys1795Thr)
c.5060A>C (p.Lys1687Thr)
11g.118503370A>GCA382805738KMT2Ac.7577A>G (p.Lys2526Arg)
c.7568A>G (p.Lys2523Arg)
c.1517A>G (p.Lys506Arg)
c.1775A>G (p.Lys592Arg)
c.7550A>G (p.Lys2517Arg)
c.7469A>G (p.Lys2490Arg)
n.6820A>G
c.7478A>G (p.Lys2493Arg)
c.7355A>G (p.Lys2452Arg)
n.1605A>G
c.4961A>G (p.Lys1654Arg)
c.7574A>G (p.Lys2525Arg)
c.5384A>G (p.Lys1795Arg)
c.5060A>G (p.Lys1687Arg)
 gnomAD v4
11g.118503370A>TCA382805739KMT2Ac.7577A>T (p.Lys2526Ile)
c.7568A>T (p.Lys2523Ile)
c.1517A>T (p.Lys506Ile)
c.1775A>T (p.Lys592Ile)
c.7550A>T (p.Lys2517Ile)
c.7469A>T (p.Lys2490Ile)
n.6820A>T
c.7478A>T (p.Lys2493Ile)
c.7355A>T (p.Lys2452Ile)
n.1605A>T
c.4961A>T (p.Lys1654Ile)
c.7574A>T (p.Lys2525Ile)
c.5384A>T (p.Lys1795Ile)
c.5060A>T (p.Lys1687Ile)
11g.118503371A=CA2003527786KMT2Ac.7578A= (p.Lys2526=)
c.7569A= (p.Lys2523=)
c.1518A= (p.Lys506=)
c.1776A= (p.Lys592=)
c.7551A= (p.Lys2517=)
c.7470A= (p.Lys2490=)
n.6821A=
c.7479A= (p.Lys2493=)
c.7356A= (p.Lys2452=)
n.1606A=
c.4962A= (p.Lys1654=)
c.7575A= (p.Lys2525=)
c.5385A= (p.Lys1795=)
c.5061A= (p.Lys1687=)
11g.118503371A>CCA382805741KMT2Ac.7578A>C (p.Lys2526Asn)
c.7569A>C (p.Lys2523Asn)
c.1518A>C (p.Lys506Asn)
c.1776A>C (p.Lys592Asn)
c.7551A>C (p.Lys2517Asn)
c.7470A>C (p.Lys2490Asn)
n.6821A>C
c.7479A>C (p.Lys2493Asn)
c.7356A>C (p.Lys2452Asn)
n.1606A>C
c.4962A>C (p.Lys1654Asn)
c.7575A>C (p.Lys2525Asn)
c.5385A>C (p.Lys1795Asn)
c.5061A>C (p.Lys1687Asn)
11g.118503371A>GCA477359455KMT2Ac.7578A>G (p.Lys2526=)
c.7569A>G (p.Lys2523=)
c.1518A>G (p.Lys506=)
c.1776A>G (p.Lys592=)
c.7551A>G (p.Lys2517=)
c.7470A>G (p.Lys2490=)
n.6821A>G
c.7479A>G (p.Lys2493=)
c.7356A>G (p.Lys2452=)
n.1606A>G
c.4962A>G (p.Lys1654=)
c.7575A>G (p.Lys2525=)
c.5385A>G (p.Lys1795=)
c.5061A>G (p.Lys1687=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503371A>TCA382805742KMT2Ac.7578A>T (p.Lys2526Asn)
c.7569A>T (p.Lys2523Asn)
c.1518A>T (p.Lys506Asn)
c.1776A>T (p.Lys592Asn)
c.7551A>T (p.Lys2517Asn)
c.7470A>T (p.Lys2490Asn)
n.6821A>T
c.7479A>T (p.Lys2493Asn)
c.7356A>T (p.Lys2452Asn)
n.1606A>T
c.4962A>T (p.Lys1654Asn)
c.7575A>T (p.Lys2525Asn)
c.5385A>T (p.Lys1795Asn)
c.5061A>T (p.Lys1687Asn)
11g.118503372G>ACA382805743KMT2Ac.7579G>A (p.Gly2527Ser)
c.7570G>A (p.Gly2524Ser)
c.1519G>A (p.Gly507Ser)
c.1777G>A (p.Gly593Ser)
c.7552G>A (p.Gly2518Ser)
c.7471G>A (p.Gly2491Ser)
n.6822G>A
c.7480G>A (p.Gly2494Ser)
c.7357G>A (p.Gly2453Ser)
n.1607G>A
c.4963G>A (p.Gly1655Ser)
c.7576G>A (p.Gly2526Ser)
c.5386G>A (p.Gly1796Ser)
c.5062G>A (p.Gly1688Ser)
11g.118503372G>CCA382805746KMT2Ac.7579G>C (p.Gly2527Arg)
c.7570G>C (p.Gly2524Arg)
c.1519G>C (p.Gly507Arg)
c.1777G>C (p.Gly593Arg)
c.7552G>C (p.Gly2518Arg)
c.7471G>C (p.Gly2491Arg)
n.6822G>C
c.7480G>C (p.Gly2494Arg)
c.7357G>C (p.Gly2453Arg)
n.1607G>C
c.4963G>C (p.Gly1655Arg)
c.7576G>C (p.Gly2526Arg)
c.5386G>C (p.Gly1796Arg)
c.5062G>C (p.Gly1688Arg)
11g.118503372G>TCA382805744KMT2Ac.7579G>T (p.Gly2527Cys)
c.7570G>T (p.Gly2524Cys)
c.1519G>T (p.Gly507Cys)
c.1777G>T (p.Gly593Cys)
c.7552G>T (p.Gly2518Cys)
c.7471G>T (p.Gly2491Cys)
n.6822G>T
c.7480G>T (p.Gly2494Cys)
c.7357G>T (p.Gly2453Cys)
n.1607G>T
c.4963G>T (p.Gly1655Cys)
c.7576G>T (p.Gly2526Cys)
c.5386G>T (p.Gly1796Cys)
c.5062G>T (p.Gly1688Cys)
 dbSNP
11g.118503373G>ACA382805748KMT2Ac.7580G>A (p.Gly2527Asp)
c.7571G>A (p.Gly2524Asp)
c.1520G>A (p.Gly507Asp)
c.1778G>A (p.Gly593Asp)
c.7553G>A (p.Gly2518Asp)
c.7472G>A (p.Gly2491Asp)
n.6823G>A
c.7481G>A (p.Gly2494Asp)
c.7358G>A (p.Gly2453Asp)
n.1608G>A
c.4964G>A (p.Gly1655Asp)
c.7577G>A (p.Gly2526Asp)
c.5387G>A (p.Gly1796Asp)
c.5063G>A (p.Gly1688Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503373G>CCA382805750KMT2Ac.7580G>C (p.Gly2527Ala)
c.7571G>C (p.Gly2524Ala)
c.1520G>C (p.Gly507Ala)
c.1778G>C (p.Gly593Ala)
c.7553G>C (p.Gly2518Ala)
c.7472G>C (p.Gly2491Ala)
n.6823G>C
c.7481G>C (p.Gly2494Ala)
c.7358G>C (p.Gly2453Ala)
n.1608G>C
c.4964G>C (p.Gly1655Ala)
c.7577G>C (p.Gly2526Ala)
c.5387G>C (p.Gly1796Ala)
c.5063G>C (p.Gly1688Ala)
11g.118503373G=CA2003527789KMT2Ac.7580G= (p.Gly2527=)
c.7571G= (p.Gly2524=)
c.1520G= (p.Gly507=)
c.1778G= (p.Gly593=)
c.7553G= (p.Gly2518=)
c.7472G= (p.Gly2491=)
n.6823G=
c.7481G= (p.Gly2494=)
c.7358G= (p.Gly2453=)
n.1608G=
c.4964G= (p.Gly1655=)
c.7577G= (p.Gly2526=)
c.5387G= (p.Gly1796=)
c.5063G= (p.Gly1688=)
11g.118503373G>TCA382805751KMT2Ac.7580G>T (p.Gly2527Val)
c.7571G>T (p.Gly2524Val)
c.1520G>T (p.Gly507Val)
c.1778G>T (p.Gly593Val)
c.7553G>T (p.Gly2518Val)
c.7472G>T (p.Gly2491Val)
n.6823G>T
c.7481G>T (p.Gly2494Val)
c.7358G>T (p.Gly2453Val)
n.1608G>T
c.4964G>T (p.Gly1655Val)
c.7577G>T (p.Gly2526Val)
c.5387G>T (p.Gly1796Val)
c.5063G>T (p.Gly1688Val)
11g.118503374C>ACA477359456KMT2Ac.7581C>A (p.Gly2527=)
c.7572C>A (p.Gly2524=)
c.1521C>A (p.Gly507=)
c.1779C>A (p.Gly593=)
c.7554C>A (p.Gly2518=)
c.7473C>A (p.Gly2491=)
n.6824C>A
c.7482C>A (p.Gly2494=)
c.7359C>A (p.Gly2453=)
n.1609C>A
c.4965C>A (p.Gly1655=)
c.7578C>A (p.Gly2526=)
c.5388C>A (p.Gly1796=)
c.5064C>A (p.Gly1688=)
11g.118503374C=CA2003527794KMT2Ac.7581C= (p.Gly2527=)
c.7572C= (p.Gly2524=)
c.1521C= (p.Gly507=)
c.1779C= (p.Gly593=)
c.7554C= (p.Gly2518=)
c.7473C= (p.Gly2491=)
n.6824C=
c.7482C= (p.Gly2494=)
c.7359C= (p.Gly2453=)
n.1609C=
c.4965C= (p.Gly1655=)
c.7578C= (p.Gly2526=)
c.5388C= (p.Gly1796=)
c.5064C= (p.Gly1688=)
11g.118503374C>GCA477359457KMT2Ac.7581C>G (p.Gly2527=)
c.7572C>G (p.Gly2524=)
c.1521C>G (p.Gly507=)
c.1779C>G (p.Gly593=)
c.7554C>G (p.Gly2518=)
c.7473C>G (p.Gly2491=)
n.6824C>G
c.7482C>G (p.Gly2494=)
c.7359C>G (p.Gly2453=)
n.1609C>G
c.4965C>G (p.Gly1655=)
c.7578C>G (p.Gly2526=)
c.5388C>G (p.Gly1796=)
c.5064C>G (p.Gly1688=)
11g.118503374C>TCA477359458KMT2Ac.7581C>T (p.Gly2527=)
c.7572C>T (p.Gly2524=)
c.1521C>T (p.Gly507=)
c.1779C>T (p.Gly593=)
c.7554C>T (p.Gly2518=)
c.7473C>T (p.Gly2491=)
n.6824C>T
c.7482C>T (p.Gly2494=)
c.7359C>T (p.Gly2453=)
n.1609C>T
c.4965C>T (p.Gly1655=)
c.7578C>T (p.Gly2526=)
c.5388C>T (p.Gly1796=)
c.5064C>T (p.Gly1688=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503375C>ACA382805753KMT2Ac.7582C>A (p.Leu2528Ile)
c.7573C>A (p.Leu2525Ile)
c.1522C>A (p.Leu508Ile)
c.1780C>A (p.Leu594Ile)
c.7555C>A (p.Leu2519Ile)
c.7474C>A (p.Leu2492Ile)
n.6825C>A
c.7483C>A (p.Leu2495Ile)
c.7360C>A (p.Leu2454Ile)
n.1610C>A
c.4966C>A (p.Leu1656Ile)
c.7579C>A (p.Leu2527Ile)
c.5389C>A (p.Leu1797Ile)
c.5065C>A (p.Leu1689Ile)
11g.118503375C=CA2003527798KMT2Ac.7582C= (p.Leu2528=)
c.7573C= (p.Leu2525=)
c.1522C= (p.Leu508=)
c.1780C= (p.Leu594=)
c.7555C= (p.Leu2519=)
c.7474C= (p.Leu2492=)
n.6825C=
c.7483C= (p.Leu2495=)
c.7360C= (p.Leu2454=)
n.1610C=
c.4966C= (p.Leu1656=)
c.7579C= (p.Leu2527=)
c.5389C= (p.Leu1797=)
c.5065C= (p.Leu1689=)
11g.118503375C>GCA382805754KMT2Ac.7582C>G (p.Leu2528Val)
c.7573C>G (p.Leu2525Val)
c.1522C>G (p.Leu508Val)
c.1780C>G (p.Leu594Val)
c.7555C>G (p.Leu2519Val)
c.7474C>G (p.Leu2492Val)
n.6825C>G
c.7483C>G (p.Leu2495Val)
c.7360C>G (p.Leu2454Val)
n.1610C>G
c.4966C>G (p.Leu1656Val)
c.7579C>G (p.Leu2527Val)
c.5389C>G (p.Leu1797Val)
c.5065C>G (p.Leu1689Val)
11g.118503375C>TCA382805755KMT2Ac.7582C>T (p.Leu2528Phe)
c.7573C>T (p.Leu2525Phe)
c.1522C>T (p.Leu508Phe)
c.1780C>T (p.Leu594Phe)
c.7555C>T (p.Leu2519Phe)
c.7474C>T (p.Leu2492Phe)
n.6825C>T
c.7483C>T (p.Leu2495Phe)
c.7360C>T (p.Leu2454Phe)
n.1610C>T
c.4966C>T (p.Leu1656Phe)
c.7579C>T (p.Leu2527Phe)
c.5389C>T (p.Leu1797Phe)
c.5065C>T (p.Leu1689Phe)
 dbSNP gnomAD v4
11g.118503376T>ACA382805756KMT2Ac.7583T>A (p.Leu2528His)
c.7574T>A (p.Leu2525His)
c.1523T>A (p.Leu508His)
c.1781T>A (p.Leu594His)
c.7556T>A (p.Leu2519His)
c.7475T>A (p.Leu2492His)
n.6826T>A
c.7484T>A (p.Leu2495His)
c.7361T>A (p.Leu2454His)
n.1611T>A
c.4967T>A (p.Leu1656His)
c.7580T>A (p.Leu2527His)
c.5390T>A (p.Leu1797His)
c.5066T>A (p.Leu1689His)
11g.118503376T>CCA382805757KMT2Ac.7583T>C (p.Leu2528Pro)
c.7574T>C (p.Leu2525Pro)
c.1523T>C (p.Leu508Pro)
c.1781T>C (p.Leu594Pro)
c.7556T>C (p.Leu2519Pro)
c.7475T>C (p.Leu2492Pro)
n.6826T>C
c.7484T>C (p.Leu2495Pro)
c.7361T>C (p.Leu2454Pro)
n.1611T>C
c.4967T>C (p.Leu1656Pro)
c.7580T>C (p.Leu2527Pro)
c.5390T>C (p.Leu1797Pro)
c.5066T>C (p.Leu1689Pro)
11g.118503376T>GCA382805758KMT2Ac.7583T>G (p.Leu2528Arg)
c.7574T>G (p.Leu2525Arg)
c.1523T>G (p.Leu508Arg)
c.1781T>G (p.Leu594Arg)
c.7556T>G (p.Leu2519Arg)
c.7475T>G (p.Leu2492Arg)
n.6826T>G
c.7484T>G (p.Leu2495Arg)
c.7361T>G (p.Leu2454Arg)
n.1611T>G
c.4967T>G (p.Leu1656Arg)
c.7580T>G (p.Leu2527Arg)
c.5390T>G (p.Leu1797Arg)
c.5066T>G (p.Leu1689Arg)
11g.118503377T>ACA477359459KMT2Ac.7584T>A (p.Leu2528=)
c.7575T>A (p.Leu2525=)
c.1524T>A (p.Leu508=)
c.1782T>A (p.Leu594=)
c.7557T>A (p.Leu2519=)
c.7476T>A (p.Leu2492=)
n.6827T>A
c.7485T>A (p.Leu2495=)
c.7362T>A (p.Leu2454=)
n.1612T>A
c.4968T>A (p.Leu1656=)
c.7581T>A (p.Leu2527=)
c.5391T>A (p.Leu1797=)
c.5067T>A (p.Leu1689=)
11g.118503377T>CCA477359460KMT2Ac.7584T>C (p.Leu2528=)
c.7575T>C (p.Leu2525=)
c.1524T>C (p.Leu508=)
c.1782T>C (p.Leu594=)
c.7557T>C (p.Leu2519=)
c.7476T>C (p.Leu2492=)
n.6827T>C
c.7485T>C (p.Leu2495=)
c.7362T>C (p.Leu2454=)
n.1612T>C
c.4968T>C (p.Leu1656=)
c.7581T>C (p.Leu2527=)
c.5391T>C (p.Leu1797=)
c.5067T>C (p.Leu1689=)
11g.118503377T>GCA477359461KMT2Ac.7584T>G (p.Leu2528=)
c.7575T>G (p.Leu2525=)
c.1524T>G (p.Leu508=)
c.1782T>G (p.Leu594=)
c.7557T>G (p.Leu2519=)
c.7476T>G (p.Leu2492=)
n.6827T>G
c.7485T>G (p.Leu2495=)
c.7362T>G (p.Leu2454=)
n.1612T>G
c.4968T>G (p.Leu1656=)
c.7581T>G (p.Leu2527=)
c.5391T>G (p.Leu1797=)
c.5067T>G (p.Leu1689=)
11g.118503378T>ACA382805760KMT2Ac.7585T>A (p.Ser2529Thr)
c.7576T>A (p.Ser2526Thr)
c.1525T>A (p.Ser509Thr)
c.1783T>A (p.Ser595Thr)
c.7558T>A (p.Ser2520Thr)
c.7477T>A (p.Ser2493Thr)
n.6828T>A
c.7486T>A (p.Ser2496Thr)
c.7363T>A (p.Ser2455Thr)
n.1613T>A
c.4969T>A (p.Ser1657Thr)
c.7582T>A (p.Ser2528Thr)
c.5392T>A (p.Ser1798Thr)
c.5068T>A (p.Ser1690Thr)
11g.118503378T>CCA382805762KMT2Ac.7585T>C (p.Ser2529Pro)
c.7576T>C (p.Ser2526Pro)
c.1525T>C (p.Ser509Pro)
c.1783T>C (p.Ser595Pro)
c.7558T>C (p.Ser2520Pro)
c.7477T>C (p.Ser2493Pro)
n.6828T>C
c.7486T>C (p.Ser2496Pro)
c.7363T>C (p.Ser2455Pro)
n.1613T>C
c.4969T>C (p.Ser1657Pro)
c.7582T>C (p.Ser2528Pro)
c.5392T>C (p.Ser1798Pro)
c.5068T>C (p.Ser1690Pro)
11g.118503378T>GCA382805763KMT2Ac.7585T>G (p.Ser2529Ala)
c.7576T>G (p.Ser2526Ala)
c.1525T>G (p.Ser509Ala)
c.1783T>G (p.Ser595Ala)
c.7558T>G (p.Ser2520Ala)
c.7477T>G (p.Ser2493Ala)
n.6828T>G
c.7486T>G (p.Ser2496Ala)
c.7363T>G (p.Ser2455Ala)
n.1613T>G
c.4969T>G (p.Ser1657Ala)
c.7582T>G (p.Ser2528Ala)
c.5392T>G (p.Ser1798Ala)
c.5068T>G (p.Ser1690Ala)
11g.118503379C>ACA382805768KMT2Ac.7586C>A (p.Ser2529Tyr)
c.7577C>A (p.Ser2526Tyr)
c.1526C>A (p.Ser509Tyr)
c.1784C>A (p.Ser595Tyr)
c.7559C>A (p.Ser2520Tyr)
c.7478C>A (p.Ser2493Tyr)
n.6829C>A
c.7487C>A (p.Ser2496Tyr)
c.7364C>A (p.Ser2455Tyr)
n.1614C>A
c.4970C>A (p.Ser1657Tyr)
c.7583C>A (p.Ser2528Tyr)
c.5393C>A (p.Ser1798Tyr)
c.5069C>A (p.Ser1690Tyr)
11g.118503379C>GCA382805766KMT2Ac.7586C>G (p.Ser2529Cys)
c.7577C>G (p.Ser2526Cys)
c.1526C>G (p.Ser509Cys)
c.1784C>G (p.Ser595Cys)
c.7559C>G (p.Ser2520Cys)
c.7478C>G (p.Ser2493Cys)
n.6829C>G
c.7487C>G (p.Ser2496Cys)
c.7364C>G (p.Ser2455Cys)
n.1614C>G
c.4970C>G (p.Ser1657Cys)
c.7583C>G (p.Ser2528Cys)
c.5393C>G (p.Ser1798Cys)
c.5069C>G (p.Ser1690Cys)
11g.118503379C>TCA382805765KMT2Ac.7586C>T (p.Ser2529Phe)
c.7577C>T (p.Ser2526Phe)
c.1526C>T (p.Ser509Phe)
c.1784C>T (p.Ser595Phe)
c.7559C>T (p.Ser2520Phe)
c.7478C>T (p.Ser2493Phe)
n.6829C>T
c.7487C>T (p.Ser2496Phe)
c.7364C>T (p.Ser2455Phe)
n.1614C>T
c.4970C>T (p.Ser1657Phe)
c.7583C>T (p.Ser2528Phe)
c.5393C>T (p.Ser1798Phe)
c.5069C>T (p.Ser1690Phe)
 COSMIC COSMIC
11g.118503380T>ACA477359462KMT2Ac.7587T>A (p.Ser2529=)
c.7578T>A (p.Ser2526=)
c.1527T>A (p.Ser509=)
c.1785T>A (p.Ser595=)
c.7560T>A (p.Ser2520=)
c.7479T>A (p.Ser2493=)
n.6830T>A
c.7488T>A (p.Ser2496=)
c.7365T>A (p.Ser2455=)
n.1615T>A
c.4971T>A (p.Ser1657=)
c.7584T>A (p.Ser2528=)
c.5394T>A (p.Ser1798=)
c.5070T>A (p.Ser1690=)
 dbSNP
11g.118503380T>CCA477359463KMT2Ac.7587T>C (p.Ser2529=)
c.7578T>C (p.Ser2526=)
c.1527T>C (p.Ser509=)
c.1785T>C (p.Ser595=)
c.7560T>C (p.Ser2520=)
c.7479T>C (p.Ser2493=)
n.6830T>C
c.7488T>C (p.Ser2496=)
c.7365T>C (p.Ser2455=)
n.1615T>C
c.4971T>C (p.Ser1657=)
c.7584T>C (p.Ser2528=)
c.5394T>C (p.Ser1798=)
c.5070T>C (p.Ser1690=)
11g.118503380T>GCA477359464KMT2Ac.7587T>G (p.Ser2529=)
c.7578T>G (p.Ser2526=)
c.1527T>G (p.Ser509=)
c.1785T>G (p.Ser595=)
c.7560T>G (p.Ser2520=)
c.7479T>G (p.Ser2493=)
n.6830T>G
c.7488T>G (p.Ser2496=)
c.7365T>G (p.Ser2455=)
n.1615T>G
c.4971T>G (p.Ser1657=)
c.7584T>G (p.Ser2528=)
c.5394T>G (p.Ser1798=)
c.5070T>G (p.Ser1690=)
11g.118503380T=CA2003527801KMT2Ac.7587T= (p.Ser2529=)
c.7578T= (p.Ser2526=)
c.1527T= (p.Ser509=)
c.1785T= (p.Ser595=)
c.7560T= (p.Ser2520=)
c.7479T= (p.Ser2493=)
n.6830T=
c.7488T= (p.Ser2496=)
c.7365T= (p.Ser2455=)
n.1615T=
c.4971T= (p.Ser1657=)
c.7584T= (p.Ser2528=)
c.5394T= (p.Ser1798=)
c.5070T= (p.Ser1690=)
11g.118503381A>CCA382805770KMT2Ac.7588A>C (p.Met2530Leu)
c.7579A>C (p.Met2527Leu)
c.1528A>C (p.Met510Leu)
c.1786A>C (p.Met596Leu)
c.7561A>C (p.Met2521Leu)
c.7480A>C (p.Met2494Leu)
n.6831A>C
c.7489A>C (p.Met2497Leu)
c.7366A>C (p.Met2456Leu)
n.1616A>C
c.4972A>C (p.Met1658Leu)
c.7585A>C (p.Met2529Leu)
c.5395A>C (p.Met1799Leu)
c.5071A>C (p.Met1691Leu)
11g.118503381A>GCA382805772KMT2Ac.7588A>G (p.Met2530Val)
c.7579A>G (p.Met2527Val)
c.1528A>G (p.Met510Val)
c.1786A>G (p.Met596Val)
c.7561A>G (p.Met2521Val)
c.7480A>G (p.Met2494Val)
n.6831A>G
c.7489A>G (p.Met2497Val)
c.7366A>G (p.Met2456Val)
n.1616A>G
c.4972A>G (p.Met1658Val)
c.7585A>G (p.Met2529Val)
c.5395A>G (p.Met1799Val)
c.5071A>G (p.Met1691Val)
11g.118503381A>TCA382805773KMT2Ac.7588A>T (p.Met2530Leu)
c.7579A>T (p.Met2527Leu)
c.1528A>T (p.Met510Leu)
c.1786A>T (p.Met596Leu)
c.7561A>T (p.Met2521Leu)
c.7480A>T (p.Met2494Leu)
n.6831A>T
c.7489A>T (p.Met2497Leu)
c.7366A>T (p.Met2456Leu)
n.1616A>T
c.4972A>T (p.Met1658Leu)
c.7585A>T (p.Met2529Leu)
c.5395A>T (p.Met1799Leu)
c.5071A>T (p.Met1691Leu)
11g.118503382T>ACA382805775KMT2Ac.7589T>A (p.Met2530Lys)
c.7580T>A (p.Met2527Lys)
c.1529T>A (p.Met510Lys)
c.1787T>A (p.Met596Lys)
c.7562T>A (p.Met2521Lys)
c.7481T>A (p.Met2494Lys)
n.6832T>A
c.7490T>A (p.Met2497Lys)
c.7367T>A (p.Met2456Lys)
n.1617T>A
c.4973T>A (p.Met1658Lys)
c.7586T>A (p.Met2529Lys)
c.5396T>A (p.Met1799Lys)
c.5072T>A (p.Met1691Lys)
11g.118503382T>CCA382805777KMT2Ac.7589T>C (p.Met2530Thr)
c.7580T>C (p.Met2527Thr)
c.1529T>C (p.Met510Thr)
c.1787T>C (p.Met596Thr)
c.7562T>C (p.Met2521Thr)
c.7481T>C (p.Met2494Thr)
n.6832T>C
c.7490T>C (p.Met2497Thr)
c.7367T>C (p.Met2456Thr)
n.1617T>C
c.4973T>C (p.Met1658Thr)
c.7586T>C (p.Met2529Thr)
c.5396T>C (p.Met1799Thr)
c.5072T>C (p.Met1691Thr)
 dbSNP gnomAD v4
11g.118503382T>GCA382805779KMT2Ac.7589T>G (p.Met2530Arg)
c.7580T>G (p.Met2527Arg)
c.1529T>G (p.Met510Arg)
c.1787T>G (p.Met596Arg)
c.7562T>G (p.Met2521Arg)
c.7481T>G (p.Met2494Arg)
n.6832T>G
c.7490T>G (p.Met2497Arg)
c.7367T>G (p.Met2456Arg)
n.1617T>G
c.4973T>G (p.Met1658Arg)
c.7586T>G (p.Met2529Arg)
c.5396T>G (p.Met1799Arg)
c.5072T>G (p.Met1691Arg)
11g.118503382T=CA2003527804KMT2Ac.7589T= (p.Met2530=)
c.7580T= (p.Met2527=)
c.1529T= (p.Met510=)
c.1787T= (p.Met596=)
c.7562T= (p.Met2521=)
c.7481T= (p.Met2494=)
n.6832T=
c.7490T= (p.Met2497=)
c.7367T= (p.Met2456=)
n.1617T=
c.4973T= (p.Met1658=)
c.7586T= (p.Met2529=)
c.5396T= (p.Met1799=)
c.5072T= (p.Met1691=)
11g.118503383G>ACA382805781KMT2Ac.7590G>A (p.Met2530Ile)
c.7581G>A (p.Met2527Ile)
c.1530G>A (p.Met510Ile)
c.1788G>A (p.Met596Ile)
c.7563G>A (p.Met2521Ile)
c.7482G>A (p.Met2494Ile)
n.6833G>A
c.7491G>A (p.Met2497Ile)
c.7368G>A (p.Met2456Ile)
n.1618G>A
c.4974G>A (p.Met1658Ile)
c.7587G>A (p.Met2529Ile)
c.5397G>A (p.Met1799Ile)
c.5073G>A (p.Met1691Ile)
 dbSNP
11g.118503383G>CCA382805782KMT2Ac.7590G>C (p.Met2530Ile)
c.7581G>C (p.Met2527Ile)
c.1530G>C (p.Met510Ile)
c.1788G>C (p.Met596Ile)
c.7563G>C (p.Met2521Ile)
c.7482G>C (p.Met2494Ile)
n.6833G>C
c.7491G>C (p.Met2497Ile)
c.7368G>C (p.Met2456Ile)
n.1618G>C
c.4974G>C (p.Met1658Ile)
c.7587G>C (p.Met2529Ile)
c.5397G>C (p.Met1799Ile)
c.5073G>C (p.Met1691Ile)
11g.118503383G>TCA382805783KMT2Ac.7590G>T (p.Met2530Ile)
c.7581G>T (p.Met2527Ile)
c.1530G>T (p.Met510Ile)
c.1788G>T (p.Met596Ile)
c.7563G>T (p.Met2521Ile)
c.7482G>T (p.Met2494Ile)
n.6833G>T
c.7491G>T (p.Met2497Ile)
c.7368G>T (p.Met2456Ile)
n.1618G>T
c.4974G>T (p.Met1658Ile)
c.7587G>T (p.Met2529Ile)
c.5397G>T (p.Met1799Ile)
c.5073G>T (p.Met1691Ile)
11g.118503384C>ACA382805784KMT2Ac.7591C>A (p.Pro2531Thr)
c.7582C>A (p.Pro2528Thr)
c.1531C>A (p.Pro511Thr)
c.1789C>A (p.Pro597Thr)
c.7564C>A (p.Pro2522Thr)
c.7483C>A (p.Pro2495Thr)
n.6834C>A
c.7492C>A (p.Pro2498Thr)
c.7369C>A (p.Pro2457Thr)
n.1619C>A
c.4975C>A (p.Pro1659Thr)
c.7588C>A (p.Pro2530Thr)
c.5398C>A (p.Pro1800Thr)
c.5074C>A (p.Pro1692Thr)
 ClinVar dbSNP gnomAD v4
11g.118503384C=CA2003527809KMT2Ac.7591C= (p.Pro2531=)
c.7582C= (p.Pro2528=)
c.1531C= (p.Pro511=)
c.1789C= (p.Pro597=)
c.7564C= (p.Pro2522=)
c.7483C= (p.Pro2495=)
n.6834C=
c.7492C= (p.Pro2498=)
c.7369C= (p.Pro2457=)
n.1619C=
c.4975C= (p.Pro1659=)
c.7588C= (p.Pro2530=)
c.5398C= (p.Pro1800=)
c.5074C= (p.Pro1692=)
11g.118503384C>GCA382805785KMT2Ac.7591C>G (p.Pro2531Ala)
c.7582C>G (p.Pro2528Ala)
c.1531C>G (p.Pro511Ala)
c.1789C>G (p.Pro597Ala)
c.7564C>G (p.Pro2522Ala)
c.7483C>G (p.Pro2495Ala)
n.6834C>G
c.7492C>G (p.Pro2498Ala)
c.7369C>G (p.Pro2457Ala)
n.1619C>G
c.4975C>G (p.Pro1659Ala)
c.7588C>G (p.Pro2530Ala)
c.5398C>G (p.Pro1800Ala)
c.5074C>G (p.Pro1692Ala)
 dbSNP
11g.118503384C>TCA382805787KMT2Ac.7591C>T (p.Pro2531Ser)
c.7582C>T (p.Pro2528Ser)
c.1531C>T (p.Pro511Ser)
c.1789C>T (p.Pro597Ser)
c.7564C>T (p.Pro2522Ser)
c.7483C>T (p.Pro2495Ser)
n.6834C>T
c.7492C>T (p.Pro2498Ser)
c.7369C>T (p.Pro2457Ser)
n.1619C>T
c.4975C>T (p.Pro1659Ser)
c.7588C>T (p.Pro2530Ser)
c.5398C>T (p.Pro1800Ser)
c.5074C>T (p.Pro1692Ser)
11g.118503385C>ACA382805792KMT2Ac.7592C>A (p.Pro2531Gln)
c.7583C>A (p.Pro2528Gln)
c.1532C>A (p.Pro511Gln)
c.1790C>A (p.Pro597Gln)
c.7565C>A (p.Pro2522Gln)
c.7484C>A (p.Pro2495Gln)
n.6835C>A
c.7493C>A (p.Pro2498Gln)
c.7370C>A (p.Pro2457Gln)
n.1620C>A
c.4976C>A (p.Pro1659Gln)
c.7589C>A (p.Pro2530Gln)
c.5399C>A (p.Pro1800Gln)
c.5075C>A (p.Pro1692Gln)
11g.118503385C>GCA382805790KMT2Ac.7592C>G (p.Pro2531Arg)
c.7583C>G (p.Pro2528Arg)
c.1532C>G (p.Pro511Arg)
c.1790C>G (p.Pro597Arg)
c.7565C>G (p.Pro2522Arg)
c.7484C>G (p.Pro2495Arg)
n.6835C>G
c.7493C>G (p.Pro2498Arg)
c.7370C>G (p.Pro2457Arg)
n.1620C>G
c.4976C>G (p.Pro1659Arg)
c.7589C>G (p.Pro2530Arg)
c.5399C>G (p.Pro1800Arg)
c.5075C>G (p.Pro1692Arg)
11g.118503385C>TCA382805789KMT2Ac.7592C>T (p.Pro2531Leu)
c.7583C>T (p.Pro2528Leu)
c.1532C>T (p.Pro511Leu)
c.1790C>T (p.Pro597Leu)
c.7565C>T (p.Pro2522Leu)
c.7484C>T (p.Pro2495Leu)
n.6835C>T
c.7493C>T (p.Pro2498Leu)
c.7370C>T (p.Pro2457Leu)
n.1620C>T
c.4976C>T (p.Pro1659Leu)
c.7589C>T (p.Pro2530Leu)
c.5399C>T (p.Pro1800Leu)
c.5075C>T (p.Pro1692Leu)
11g.118503385_118503388delinsCAGGCA2003527811KMT2Ac.7592_7595delinsCAGG (p.Pro2531=)
c.7583_7586delinsCAGG (p.Pro2528=)
c.1532_1535delinsCAGG (p.Pro511=)
c.1790_1793delinsCAGG (p.Pro597=)
c.7565_7568delinsCAGG (p.Pro2522=)
c.7484_7487delinsCAGG (p.Pro2495=)
n.6835_6838delinsCAGG
c.7493_7496delinsCAGG (p.Pro2498=)
c.7370_7373delinsCAGG (p.Pro2457=)
n.1620_1623delinsCAGG
c.4976_4979delinsCAGG (p.Pro1659=)
c.7589_7592delinsCAGG (p.Pro2530=)
c.5399_5402delinsCAGG (p.Pro1800=)
c.5075_5078delinsCAGG (p.Pro1692=)
11g.118503386A>CCA477359465KMT2Ac.7593A>C (p.Pro2531=)
c.7584A>C (p.Pro2528=)
c.1533A>C (p.Pro511=)
c.1791A>C (p.Pro597=)
c.7566A>C (p.Pro2522=)
c.7485A>C (p.Pro2495=)
n.6836A>C
c.7494A>C (p.Pro2498=)
c.7371A>C (p.Pro2457=)
n.1621A>C
c.4977A>C (p.Pro1659=)
c.7590A>C (p.Pro2530=)
c.5400A>C (p.Pro1800=)
c.5076A>C (p.Pro1692=)
11g.118503386A>GCA477359466KMT2Ac.7593A>G (p.Pro2531=)
c.7584A>G (p.Pro2528=)
c.1533A>G (p.Pro511=)
c.1791A>G (p.Pro597=)
c.7566A>G (p.Pro2522=)
c.7485A>G (p.Pro2495=)
n.6836A>G
c.7494A>G (p.Pro2498=)
c.7371A>G (p.Pro2457=)
n.1621A>G
c.4977A>G (p.Pro1659=)
c.7590A>G (p.Pro2530=)
c.5400A>G (p.Pro1800=)
c.5076A>G (p.Pro1692=)
11g.118503386A>TCA477359467KMT2Ac.7593A>T (p.Pro2531=)
c.7584A>T (p.Pro2528=)
c.1533A>T (p.Pro511=)
c.1791A>T (p.Pro597=)
c.7566A>T (p.Pro2522=)
c.7485A>T (p.Pro2495=)
n.6836A>T
c.7494A>T (p.Pro2498=)
c.7371A>T (p.Pro2457=)
n.1621A>T
c.4977A>T (p.Pro1659=)
c.7590A>T (p.Pro2530=)
c.5400A>T (p.Pro1800=)
c.5076A>T (p.Pro1692=)
11g.118503388_118503390delCA602140931KMT2Ac.7595_7597del (p.Gly2532del)
c.7586_7588del (p.Gly2529del)
c.1535_1537del (p.Gly512del)
c.1793_1795del (p.Gly598del)
c.7568_7570del (p.Gly2523del)
c.7487_7489del (p.Gly2496del)
n.6838_6840del
c.7496_7498del (p.Gly2499del)
c.7373_7375del (p.Gly2458del)
n.1623_1625del
c.4979_4981del (p.Gly1660del)
c.7592_7594del (p.Gly2531del)
c.5402_5404del (p.Gly1801del)
c.5078_5080del (p.Gly1693del)
 dbSNP gnomAD v2 gnomAD v4
11g.118503387G>ACA382805794KMT2Ac.7594G>A (p.Gly2532Arg)
c.7585G>A (p.Gly2529Arg)
c.1534G>A (p.Gly512Arg)
c.1792G>A (p.Gly598Arg)
c.7567G>A (p.Gly2523Arg)
c.7486G>A (p.Gly2496Arg)
n.6837G>A
c.7495G>A (p.Gly2499Arg)
c.7372G>A (p.Gly2458Arg)
n.1622G>A
c.4978G>A (p.Gly1660Arg)
c.7591G>A (p.Gly2531Arg)
c.5401G>A (p.Gly1801Arg)
c.5077G>A (p.Gly1693Arg)
11g.118503387G>CCA382805797KMT2Ac.7594G>C (p.Gly2532Arg)
c.7585G>C (p.Gly2529Arg)
c.1534G>C (p.Gly512Arg)
c.1792G>C (p.Gly598Arg)
c.7567G>C (p.Gly2523Arg)
c.7486G>C (p.Gly2496Arg)
n.6837G>C
c.7495G>C (p.Gly2499Arg)
c.7372G>C (p.Gly2458Arg)
n.1622G>C
c.4978G>C (p.Gly1660Arg)
c.7591G>C (p.Gly2531Arg)
c.5401G>C (p.Gly1801Arg)
c.5077G>C (p.Gly1693Arg)
11g.118503387G>TCA382805795KMT2Ac.7594G>T (p.Gly2532Ter)
c.7585G>T (p.Gly2529Ter)
c.1534G>T (p.Gly512Ter)
c.1792G>T (p.Gly598Ter)
c.7567G>T (p.Gly2523Ter)
c.7486G>T (p.Gly2496Ter)
n.6837G>T
c.7495G>T (p.Gly2499Ter)
c.7372G>T (p.Gly2458Ter)
n.1622G>T
c.4978G>T (p.Gly1660Ter)
c.7591G>T (p.Gly2531Ter)
c.5401G>T (p.Gly1801Ter)
c.5077G>T (p.Gly1693Ter)
11g.118503388G>ACA382805798KMT2Ac.7595G>A (p.Gly2532Glu)
c.7586G>A (p.Gly2529Glu)
c.1535G>A (p.Gly512Glu)
c.1793G>A (p.Gly598Glu)
c.7568G>A (p.Gly2523Glu)
c.7487G>A (p.Gly2496Glu)
n.6838G>A
c.7496G>A (p.Gly2499Glu)
c.7373G>A (p.Gly2458Glu)
n.1623G>A
c.4979G>A (p.Gly1660Glu)
c.7592G>A (p.Gly2531Glu)
c.5402G>A (p.Gly1801Glu)
c.5078G>A (p.Gly1693Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503388G>CCA382805800KMT2Ac.7595G>C (p.Gly2532Ala)
c.7586G>C (p.Gly2529Ala)
c.1535G>C (p.Gly512Ala)
c.1793G>C (p.Gly598Ala)
c.7568G>C (p.Gly2523Ala)
c.7487G>C (p.Gly2496Ala)
n.6838G>C
c.7496G>C (p.Gly2499Ala)
c.7373G>C (p.Gly2458Ala)
n.1623G>C
c.4979G>C (p.Gly1660Ala)
c.7592G>C (p.Gly2531Ala)
c.5402G>C (p.Gly1801Ala)
c.5078G>C (p.Gly1693Ala)
11g.118503388G=CA2003527813KMT2Ac.7595G= (p.Gly2532=)
c.7586G= (p.Gly2529=)
c.1535G= (p.Gly512=)
c.1793G= (p.Gly598=)
c.7568G= (p.Gly2523=)
c.7487G= (p.Gly2496=)
n.6838G=
c.7496G= (p.Gly2499=)
c.7373G= (p.Gly2458=)
n.1623G=
c.4979G= (p.Gly1660=)
c.7592G= (p.Gly2531=)
c.5402G= (p.Gly1801=)
c.5078G= (p.Gly1693=)
11g.118503388G>TCA382805801KMT2Ac.7595G>T (p.Gly2532Val)
c.7586G>T (p.Gly2529Val)
c.1535G>T (p.Gly512Val)
c.1793G>T (p.Gly598Val)
c.7568G>T (p.Gly2523Val)
c.7487G>T (p.Gly2496Val)
n.6838G>T
c.7496G>T (p.Gly2499Val)
c.7373G>T (p.Gly2458Val)
n.1623G>T
c.4979G>T (p.Gly1660Val)
c.7592G>T (p.Gly2531Val)
c.5402G>T (p.Gly1801Val)
c.5078G>T (p.Gly1693Val)
11g.118503388_118503389delinsGACA2003527814KMT2Ac.7595_7596delinsGA (p.Gly2532=)
c.7586_7587delinsGA (p.Gly2529=)
c.1535_1536delinsGA (p.Gly512=)
c.1793_1794delinsGA (p.Gly598=)
c.7568_7569delinsGA (p.Gly2523=)
c.7487_7488delinsGA (p.Gly2496=)
n.6838_6839delinsGA
c.7496_7497delinsGA (p.Gly2499=)
c.7373_7374delinsGA (p.Gly2458=)
n.1623_1624delinsGA
c.4979_4980delinsGA (p.Gly1660=)
c.7592_7593delinsGA (p.Gly2531=)
c.5402_5403delinsGA (p.Gly1801=)
c.5078_5079delinsGA (p.Gly1693=)
11g.118503389delCA658797809KMT2Ac.7596del (p.Val2533SerfsTer9)
c.7587del (p.Val2530SerfsTer9)
c.1536del (p.Val513SerfsTer9)
c.1794del (p.Val599SerfsTer9)
c.7569del (p.Val2524SerfsTer9)
c.7488del (p.Val2497SerfsTer9)
n.6839del
c.7497del (p.Val2500SerfsTer9)
c.7374del (p.Val2459SerfsTer9)
n.1624del
c.4980del (p.Val1661SerfsTer9)
c.7593del (p.Val2532SerfsTer9)
c.5403del (p.Val1802SerfsTer9)
c.5079del (p.Val1694SerfsTer9)
 ClinVar dbSNP
11g.118503389A>CCA477359470KMT2Ac.7596A>C (p.Gly2532=)
c.7587A>C (p.Gly2529=)
c.1536A>C (p.Gly512=)
c.1794A>C (p.Gly598=)
c.7569A>C (p.Gly2523=)
c.7488A>C (p.Gly2496=)
n.6839A>C
c.7497A>C (p.Gly2499=)
c.7374A>C (p.Gly2458=)
n.1624A>C
c.4980A>C (p.Gly1660=)
c.7593A>C (p.Gly2531=)
c.5403A>C (p.Gly1801=)
c.5079A>C (p.Gly1693=)
11g.118503389A>GCA477359469KMT2Ac.7596A>G (p.Gly2532=)
c.7587A>G (p.Gly2529=)
c.1536A>G (p.Gly512=)
c.1794A>G (p.Gly598=)
c.7569A>G (p.Gly2523=)
c.7488A>G (p.Gly2496=)
n.6839A>G
c.7497A>G (p.Gly2499=)
c.7374A>G (p.Gly2458=)
n.1624A>G
c.4980A>G (p.Gly1660=)
c.7593A>G (p.Gly2531=)
c.5403A>G (p.Gly1801=)
c.5079A>G (p.Gly1693=)
11g.118503389A>TCA477359468KMT2Ac.7596A>T (p.Gly2532=)
c.7587A>T (p.Gly2529=)
c.1536A>T (p.Gly512=)
c.1794A>T (p.Gly598=)
c.7569A>T (p.Gly2523=)
c.7488A>T (p.Gly2496=)
n.6839A>T
c.7497A>T (p.Gly2499=)
c.7374A>T (p.Gly2458=)
n.1624A>T
c.4980A>T (p.Gly1660=)
c.7593A>T (p.Gly2531=)
c.5403A>T (p.Gly1801=)
c.5079A>T (p.Gly1693=)
11g.118503390G>ACA382805803KMT2Ac.7597G>A (p.Val2533Ile)
c.7588G>A (p.Val2530Ile)
c.1537G>A (p.Val513Ile)
c.1795G>A (p.Val599Ile)
c.7570G>A (p.Val2524Ile)
c.7489G>A (p.Val2497Ile)
n.6840G>A
c.7498G>A (p.Val2500Ile)
c.7375G>A (p.Val2459Ile)
n.1625G>A
c.4981G>A (p.Val1661Ile)
c.7594G>A (p.Val2532Ile)
c.5404G>A (p.Val1802Ile)
c.5080G>A (p.Val1694Ile)
 dbSNP
11g.118503390G>CCA382805805KMT2Ac.7597G>C (p.Val2533Leu)
c.7588G>C (p.Val2530Leu)
c.1537G>C (p.Val513Leu)
c.1795G>C (p.Val599Leu)
c.7570G>C (p.Val2524Leu)
c.7489G>C (p.Val2497Leu)
n.6840G>C
c.7498G>C (p.Val2500Leu)
c.7375G>C (p.Val2459Leu)
n.1625G>C
c.4981G>C (p.Val1661Leu)
c.7594G>C (p.Val2532Leu)
c.5404G>C (p.Val1802Leu)
c.5080G>C (p.Val1694Leu)
 dbSNP
11g.118503390G>TCA382805806KMT2Ac.7597G>T (p.Val2533Phe)
c.7588G>T (p.Val2530Phe)
c.1537G>T (p.Val513Phe)
c.1795G>T (p.Val599Phe)
c.7570G>T (p.Val2524Phe)
c.7489G>T (p.Val2497Phe)
n.6840G>T
c.7498G>T (p.Val2500Phe)
c.7375G>T (p.Val2459Phe)
n.1625G>T
c.4981G>T (p.Val1661Phe)
c.7594G>T (p.Val2532Phe)
c.5404G>T (p.Val1802Phe)
c.5080G>T (p.Val1694Phe)
11g.118503391T>ACA382805808KMT2Ac.7598T>A (p.Val2533Asp)
c.7589T>A (p.Val2530Asp)
c.1538T>A (p.Val513Asp)
c.1796T>A (p.Val599Asp)
c.7571T>A (p.Val2524Asp)
c.7490T>A (p.Val2497Asp)
n.6841T>A
c.7499T>A (p.Val2500Asp)
c.7376T>A (p.Val2459Asp)
n.1626T>A
c.4982T>A (p.Val1661Asp)
c.7595T>A (p.Val2532Asp)
c.5405T>A (p.Val1802Asp)
c.5081T>A (p.Val1694Asp)
 ClinVar dbSNP
11g.118503391T>CCA382805810KMT2Ac.7598T>C (p.Val2533Ala)
c.7589T>C (p.Val2530Ala)
c.1538T>C (p.Val513Ala)
c.1796T>C (p.Val599Ala)
c.7571T>C (p.Val2524Ala)
c.7490T>C (p.Val2497Ala)
n.6841T>C
c.7499T>C (p.Val2500Ala)
c.7376T>C (p.Val2459Ala)
n.1626T>C
c.4982T>C (p.Val1661Ala)
c.7595T>C (p.Val2532Ala)
c.5405T>C (p.Val1802Ala)
c.5081T>C (p.Val1694Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503391T>GCA382805812KMT2Ac.7598T>G (p.Val2533Gly)
c.7589T>G (p.Val2530Gly)
c.1538T>G (p.Val513Gly)
c.1796T>G (p.Val599Gly)
c.7571T>G (p.Val2524Gly)
c.7490T>G (p.Val2497Gly)
n.6841T>G
c.7499T>G (p.Val2500Gly)
c.7376T>G (p.Val2459Gly)
n.1626T>G
c.4982T>G (p.Val1661Gly)
c.7595T>G (p.Val2532Gly)
c.5405T>G (p.Val1802Gly)
c.5081T>G (p.Val1694Gly)
11g.118503391T=CA2003527818KMT2Ac.7598T= (p.Val2533=)
c.7589T= (p.Val2530=)
c.1538T= (p.Val513=)
c.1796T= (p.Val599=)
c.7571T= (p.Val2524=)
c.7490T= (p.Val2497=)
n.6841T=
c.7499T= (p.Val2500=)
c.7376T= (p.Val2459=)
n.1626T=
c.4982T= (p.Val1661=)
c.7595T= (p.Val2532=)
c.5405T= (p.Val1802=)
c.5081T= (p.Val1694=)
11g.118503392C>ACA477359473KMT2Ac.7599C>A (p.Val2533=)
c.7590C>A (p.Val2530=)
c.1539C>A (p.Val513=)
c.1797C>A (p.Val599=)
c.7572C>A (p.Val2524=)
c.7491C>A (p.Val2497=)
n.6842C>A
c.7500C>A (p.Val2500=)
c.7377C>A (p.Val2459=)
n.1627C>A
c.4983C>A (p.Val1661=)
c.7596C>A (p.Val2532=)
c.5406C>A (p.Val1802=)
c.5082C>A (p.Val1694=)
11g.118503392C>GCA477359472KMT2Ac.7599C>G (p.Val2533=)
c.7590C>G (p.Val2530=)
c.1539C>G (p.Val513=)
c.1797C>G (p.Val599=)
c.7572C>G (p.Val2524=)
c.7491C>G (p.Val2497=)
n.6842C>G
c.7500C>G (p.Val2500=)
c.7377C>G (p.Val2459=)
n.1627C>G
c.4983C>G (p.Val1661=)
c.7596C>G (p.Val2532=)
c.5406C>G (p.Val1802=)
c.5082C>G (p.Val1694=)
11g.118503392C>TCA477359471KMT2Ac.7599C>T (p.Val2533=)
c.7590C>T (p.Val2530=)
c.1539C>T (p.Val513=)
c.1797C>T (p.Val599=)
c.7572C>T (p.Val2524=)
c.7491C>T (p.Val2497=)
n.6842C>T
c.7500C>T (p.Val2500=)
c.7377C>T (p.Val2459=)
n.1627C>T
c.4983C>T (p.Val1661=)
c.7596C>T (p.Val2532=)
c.5406C>T (p.Val1802=)
c.5082C>T (p.Val1694=)
 COSMIC COSMIC
11g.118503393C>ACA382805813KMT2Ac.7600C>A (p.Pro2534Thr)
c.7591C>A (p.Pro2531Thr)
c.1540C>A (p.Pro514Thr)
c.1798C>A (p.Pro600Thr)
c.7573C>A (p.Pro2525Thr)
c.7492C>A (p.Pro2498Thr)
n.6843C>A
c.7501C>A (p.Pro2501Thr)
c.7378C>A (p.Pro2460Thr)
n.1628C>A
c.4984C>A (p.Pro1662Thr)
c.7597C>A (p.Pro2533Thr)
c.5407C>A (p.Pro1803Thr)
c.5083C>A (p.Pro1695Thr)
11g.118503393C=CA2003527820KMT2Ac.7600C= (p.Pro2534=)
c.7591C= (p.Pro2531=)
c.1540C= (p.Pro514=)
c.1798C= (p.Pro600=)
c.7573C= (p.Pro2525=)
c.7492C= (p.Pro2498=)
n.6843C=
c.7501C= (p.Pro2501=)
c.7378C= (p.Pro2460=)
n.1628C=
c.4984C= (p.Pro1662=)
c.7597C= (p.Pro2533=)
c.5407C= (p.Pro1803=)
c.5083C= (p.Pro1695=)
11g.118503393C>GCA382805815KMT2Ac.7600C>G (p.Pro2534Ala)
c.7591C>G (p.Pro2531Ala)
c.1540C>G (p.Pro514Ala)
c.1798C>G (p.Pro600Ala)
c.7573C>G (p.Pro2525Ala)
c.7492C>G (p.Pro2498Ala)
n.6843C>G
c.7501C>G (p.Pro2501Ala)
c.7378C>G (p.Pro2460Ala)
n.1628C>G
c.4984C>G (p.Pro1662Ala)
c.7597C>G (p.Pro2533Ala)
c.5407C>G (p.Pro1803Ala)
c.5083C>G (p.Pro1695Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.118503393C>TCA382805817KMT2Ac.7600C>T (p.Pro2534Ser)
c.7591C>T (p.Pro2531Ser)
c.1540C>T (p.Pro514Ser)
c.1798C>T (p.Pro600Ser)
c.7573C>T (p.Pro2525Ser)
c.7492C>T (p.Pro2498Ser)
n.6843C>T
c.7501C>T (p.Pro2501Ser)
c.7378C>T (p.Pro2460Ser)
n.1628C>T
c.4984C>T (p.Pro1662Ser)
c.7597C>T (p.Pro2533Ser)
c.5407C>T (p.Pro1803Ser)
c.5083C>T (p.Pro1695Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.118503394C>ACA382805822KMT2Ac.7601C>A (p.Pro2534His)
c.7592C>A (p.Pro2531His)
c.1541C>A (p.Pro514His)
c.1799C>A (p.Pro600His)
c.7574C>A (p.Pro2525His)
c.7493C>A (p.Pro2498His)
n.6844C>A
c.7502C>A (p.Pro2501His)
c.7379C>A (p.Pro2460His)
n.1629C>A
c.4985C>A (p.Pro1662His)
c.7598C>A (p.Pro2533His)
c.5408C>A (p.Pro1803His)
c.5084C>A (p.Pro1695His)
11g.118503394C=CA2003527823KMT2Ac.7601C= (p.Pro2534=)
c.7592C= (p.Pro2531=)
c.1541C= (p.Pro514=)
c.1799C= (p.Pro600=)
c.7574C= (p.Pro2525=)
c.7493C= (p.Pro2498=)
n.6844C=
c.7502C= (p.Pro2501=)
c.7379C= (p.Pro2460=)
n.1629C=
c.4985C= (p.Pro1662=)
c.7598C= (p.Pro2533=)
c.5408C= (p.Pro1803=)
c.5084C= (p.Pro1695=)
11g.118503394C>GCA382805819KMT2Ac.7601C>G (p.Pro2534Arg)
c.7592C>G (p.Pro2531Arg)
c.1541C>G (p.Pro514Arg)
c.1799C>G (p.Pro600Arg)
c.7574C>G (p.Pro2525Arg)
c.7493C>G (p.Pro2498Arg)
n.6844C>G
c.7502C>G (p.Pro2501Arg)
c.7379C>G (p.Pro2460Arg)
n.1629C>G
c.4985C>G (p.Pro1662Arg)
c.7598C>G (p.Pro2533Arg)
c.5408C>G (p.Pro1803Arg)
c.5084C>G (p.Pro1695Arg)
 gnomAD v4
11g.118503394C>TCA382805820KMT2Ac.7601C>T (p.Pro2534Leu)
c.7592C>T (p.Pro2531Leu)
c.1541C>T (p.Pro514Leu)
c.1799C>T (p.Pro600Leu)
c.7574C>T (p.Pro2525Leu)
c.7493C>T (p.Pro2498Leu)
n.6844C>T
c.7502C>T (p.Pro2501Leu)
c.7379C>T (p.Pro2460Leu)
n.1629C>T
c.4985C>T (p.Pro1662Leu)
c.7598C>T (p.Pro2533Leu)
c.5408C>T (p.Pro1803Leu)
c.5084C>T (p.Pro1695Leu)
 dbSNP gnomAD v2
11g.118503395C>ACA477359476KMT2Ac.7602C>A (p.Pro2534=)
c.7593C>A (p.Pro2531=)
c.1542C>A (p.Pro514=)
c.1800C>A (p.Pro600=)
c.7575C>A (p.Pro2525=)
c.7494C>A (p.Pro2498=)
n.6845C>A
c.7503C>A (p.Pro2501=)
c.7380C>A (p.Pro2460=)
n.1630C>A
c.4986C>A (p.Pro1662=)
c.7599C>A (p.Pro2533=)
c.5409C>A (p.Pro1803=)
c.5085C>A (p.Pro1695=)
11g.118503395C>GCA477359474KMT2Ac.7602C>G (p.Pro2534=)
c.7593C>G (p.Pro2531=)
c.1542C>G (p.Pro514=)
c.1800C>G (p.Pro600=)
c.7575C>G (p.Pro2525=)
c.7494C>G (p.Pro2498=)
n.6845C>G
c.7503C>G (p.Pro2501=)
c.7380C>G (p.Pro2460=)
n.1630C>G
c.4986C>G (p.Pro1662=)
c.7599C>G (p.Pro2533=)
c.5409C>G (p.Pro1803=)
c.5085C>G (p.Pro1695=)
 COSMIC COSMIC
11g.118503395C>TCA477359475KMT2Ac.7602C>T (p.Pro2534=)
c.7593C>T (p.Pro2531=)
c.1542C>T (p.Pro514=)
c.1800C>T (p.Pro600=)
c.7575C>T (p.Pro2525=)
c.7494C>T (p.Pro2498=)
n.6845C>T
c.7503C>T (p.Pro2501=)
c.7380C>T (p.Pro2460=)
n.1630C>T
c.4986C>T (p.Pro1662=)
c.7599C>T (p.Pro2533=)
c.5409C>T (p.Pro1803=)
c.5085C>T (p.Pro1695=)
11g.118503396A>CCA382805824KMT2Ac.7603A>C (p.Lys2535Gln)
c.7594A>C (p.Lys2532Gln)
c.1543A>C (p.Lys515Gln)
c.1801A>C (p.Lys601Gln)
c.7576A>C (p.Lys2526Gln)
c.7495A>C (p.Lys2499Gln)
n.6846A>C
c.7504A>C (p.Lys2502Gln)
c.7381A>C (p.Lys2461Gln)
n.1631A>C
c.4987A>C (p.Lys1663Gln)
c.7600A>C (p.Lys2534Gln)
c.5410A>C (p.Lys1804Gln)
c.5086A>C (p.Lys1696Gln)
11g.118503396A>GCA382805826KMT2Ac.7603A>G (p.Lys2535Glu)
c.7594A>G (p.Lys2532Glu)
c.1543A>G (p.Lys515Glu)
c.1801A>G (p.Lys601Glu)
c.7576A>G (p.Lys2526Glu)
c.7495A>G (p.Lys2499Glu)
n.6846A>G
c.7504A>G (p.Lys2502Glu)
c.7381A>G (p.Lys2461Glu)
n.1631A>G
c.4987A>G (p.Lys1663Glu)
c.7600A>G (p.Lys2534Glu)
c.5410A>G (p.Lys1804Glu)
c.5086A>G (p.Lys1696Glu)
11g.118503396A>TCA382805827KMT2Ac.7603A>T (p.Lys2535Ter)
c.7594A>T (p.Lys2532Ter)
c.1543A>T (p.Lys515Ter)
c.1801A>T (p.Lys601Ter)
c.7576A>T (p.Lys2526Ter)
c.7495A>T (p.Lys2499Ter)
n.6846A>T
c.7504A>T (p.Lys2502Ter)
c.7381A>T (p.Lys2461Ter)
n.1631A>T
c.4987A>T (p.Lys1663Ter)
c.7600A>T (p.Lys2534Ter)
c.5410A>T (p.Lys1804Ter)
c.5086A>T (p.Lys1696Ter)
11g.118503397A=CA2003527827KMT2Ac.7604A= (p.Lys2535=)
c.7595A= (p.Lys2532=)
c.1544A= (p.Lys515=)
c.1802A= (p.Lys601=)
c.7577A= (p.Lys2526=)
c.7496A= (p.Lys2499=)
n.6847A=
c.7505A= (p.Lys2502=)
c.7382A= (p.Lys2461=)
n.1632A=
c.4988A= (p.Lys1663=)
c.7601A= (p.Lys2534=)
c.5411A= (p.Lys1804=)
c.5087A= (p.Lys1696=)
11g.118503397A>CCA382805829KMT2Ac.7604A>C (p.Lys2535Thr)
c.7595A>C (p.Lys2532Thr)
c.1544A>C (p.Lys515Thr)
c.1802A>C (p.Lys601Thr)
c.7577A>C (p.Lys2526Thr)
c.7496A>C (p.Lys2499Thr)
n.6847A>C
c.7505A>C (p.Lys2502Thr)
c.7382A>C (p.Lys2461Thr)
n.1632A>C
c.4988A>C (p.Lys1663Thr)
c.7601A>C (p.Lys2534Thr)
c.5411A>C (p.Lys1804Thr)
c.5087A>C (p.Lys1696Thr)
11g.118503397A>GCA6304402KMT2Ac.7604A>G (p.Lys2535Arg)
c.7595A>G (p.Lys2532Arg)
c.1544A>G (p.Lys515Arg)
c.1802A>G (p.Lys601Arg)
c.7577A>G (p.Lys2526Arg)
c.7496A>G (p.Lys2499Arg)
n.6847A>G
c.7505A>G (p.Lys2502Arg)
c.7382A>G (p.Lys2461Arg)
n.1632A>G
c.4988A>G (p.Lys1663Arg)
c.7601A>G (p.Lys2534Arg)
c.5411A>G (p.Lys1804Arg)
c.5087A>G (p.Lys1696Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503397A>TCA382805831KMT2Ac.7604A>T (p.Lys2535Ile)
c.7595A>T (p.Lys2532Ile)
c.1544A>T (p.Lys515Ile)
c.1802A>T (p.Lys601Ile)
c.7577A>T (p.Lys2526Ile)
c.7496A>T (p.Lys2499Ile)
n.6847A>T
c.7505A>T (p.Lys2502Ile)
c.7382A>T (p.Lys2461Ile)
n.1632A>T
c.4988A>T (p.Lys1663Ile)
c.7601A>T (p.Lys2534Ile)
c.5411A>T (p.Lys1804Ile)
c.5087A>T (p.Lys1696Ile)
11g.118503398A>CCA382805833KMT2Ac.7605A>C (p.Lys2535Asn)
c.7596A>C (p.Lys2532Asn)
c.1545A>C (p.Lys515Asn)
c.1803A>C (p.Lys601Asn)
c.7578A>C (p.Lys2526Asn)
c.7497A>C (p.Lys2499Asn)
n.6848A>C
c.7506A>C (p.Lys2502Asn)
c.7383A>C (p.Lys2461Asn)
n.1633A>C
c.4989A>C (p.Lys1663Asn)
c.7602A>C (p.Lys2534Asn)
c.5412A>C (p.Lys1804Asn)
c.5088A>C (p.Lys1696Asn)
 gnomAD v4
11g.118503398A>GCA477359477KMT2Ac.7605A>G (p.Lys2535=)
c.7596A>G (p.Lys2532=)
c.1545A>G (p.Lys515=)
c.1803A>G (p.Lys601=)
c.7578A>G (p.Lys2526=)
c.7497A>G (p.Lys2499=)
n.6848A>G
c.7506A>G (p.Lys2502=)
c.7383A>G (p.Lys2461=)
n.1633A>G
c.4989A>G (p.Lys1663=)
c.7602A>G (p.Lys2534=)
c.5412A>G (p.Lys1804=)
c.5088A>G (p.Lys1696=)
11g.118503398A>TCA382805835KMT2Ac.7605A>T (p.Lys2535Asn)
c.7596A>T (p.Lys2532Asn)
c.1545A>T (p.Lys515Asn)
c.1803A>T (p.Lys601Asn)
c.7578A>T (p.Lys2526Asn)
c.7497A>T (p.Lys2499Asn)
n.6848A>T
c.7506A>T (p.Lys2502Asn)
c.7383A>T (p.Lys2461Asn)
n.1633A>T
c.4989A>T (p.Lys1663Asn)
c.7602A>T (p.Lys2534Asn)
c.5412A>T (p.Lys1804Asn)
c.5088A>T (p.Lys1696Asn)
11g.118503399G>ACA229526877KMT2Ac.7606G>A (p.Ala2536Thr)
c.7597G>A (p.Ala2533Thr)
c.1546G>A (p.Ala516Thr)
c.1804G>A (p.Ala602Thr)
c.7579G>A (p.Ala2527Thr)
c.7498G>A (p.Ala2500Thr)
n.6849G>A
c.7507G>A (p.Ala2503Thr)
c.7384G>A (p.Ala2462Thr)
n.1634G>A
c.4990G>A (p.Ala1664Thr)
c.7603G>A (p.Ala2535Thr)
c.5413G>A (p.Ala1805Thr)
c.5089G>A (p.Ala1697Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503399G>CCA382805837KMT2Ac.7606G>C (p.Ala2536Pro)
c.7597G>C (p.Ala2533Pro)
c.1546G>C (p.Ala516Pro)
c.1804G>C (p.Ala602Pro)
c.7579G>C (p.Ala2527Pro)
c.7498G>C (p.Ala2500Pro)
n.6849G>C
c.7507G>C (p.Ala2503Pro)
c.7384G>C (p.Ala2462Pro)
n.1634G>C
c.4990G>C (p.Ala1664Pro)
c.7603G>C (p.Ala2535Pro)
c.5413G>C (p.Ala1805Pro)
c.5089G>C (p.Ala1697Pro)
 dbSNP gnomAD v4
11g.118503399G=CA2003527831KMT2Ac.7606G= (p.Ala2536=)
c.7597G= (p.Ala2533=)
c.1546G= (p.Ala516=)
c.1804G= (p.Ala602=)
c.7579G= (p.Ala2527=)
c.7498G= (p.Ala2500=)
n.6849G=
c.7507G= (p.Ala2503=)
c.7384G= (p.Ala2462=)
n.1634G=
c.4990G= (p.Ala1664=)
c.7603G= (p.Ala2535=)
c.5413G= (p.Ala1805=)
c.5089G= (p.Ala1697=)
11g.118503399G>TCA382805839KMT2Ac.7606G>T (p.Ala2536Ser)
c.7597G>T (p.Ala2533Ser)
c.1546G>T (p.Ala516Ser)
c.1804G>T (p.Ala602Ser)
c.7579G>T (p.Ala2527Ser)
c.7498G>T (p.Ala2500Ser)
n.6849G>T
c.7507G>T (p.Ala2503Ser)
c.7384G>T (p.Ala2462Ser)
n.1634G>T
c.4990G>T (p.Ala1664Ser)
c.7603G>T (p.Ala2535Ser)
c.5413G>T (p.Ala1805Ser)
c.5089G>T (p.Ala1697Ser)
 gnomAD v4
11g.118503400C>ACA6304403KMT2Ac.7607C>A (p.Ala2536Asp)
c.7598C>A (p.Ala2533Asp)
c.1547C>A (p.Ala516Asp)
c.1805C>A (p.Ala602Asp)
c.7580C>A (p.Ala2527Asp)
c.7499C>A (p.Ala2500Asp)
n.6850C>A
c.7508C>A (p.Ala2503Asp)
c.7385C>A (p.Ala2462Asp)
n.1635C>A
c.4991C>A (p.Ala1664Asp)
c.7604C>A (p.Ala2535Asp)
c.5414C>A (p.Ala1805Asp)
c.5090C>A (p.Ala1697Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503400C=CA2003527840KMT2Ac.7607C= (p.Ala2536=)
c.7598C= (p.Ala2533=)
c.1547C= (p.Ala516=)
c.1805C= (p.Ala602=)
c.7580C= (p.Ala2527=)
c.7499C= (p.Ala2500=)
n.6850C=
c.7508C= (p.Ala2503=)
c.7385C= (p.Ala2462=)
n.1635C=
c.4991C= (p.Ala1664=)
c.7604C= (p.Ala2535=)
c.5414C= (p.Ala1805=)
c.5090C= (p.Ala1697=)
11g.118503400C>GCA6304404KMT2Ac.7607C>G (p.Ala2536Gly)
c.7598C>G (p.Ala2533Gly)
c.1547C>G (p.Ala516Gly)
c.1805C>G (p.Ala602Gly)
c.7580C>G (p.Ala2527Gly)
c.7499C>G (p.Ala2500Gly)
n.6850C>G
c.7508C>G (p.Ala2503Gly)
c.7385C>G (p.Ala2462Gly)
n.1635C>G
c.4991C>G (p.Ala1664Gly)
c.7604C>G (p.Ala2535Gly)
c.5414C>G (p.Ala1805Gly)
c.5090C>G (p.Ala1697Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503400C>TCA382805842KMT2Ac.7607C>T (p.Ala2536Val)
c.7598C>T (p.Ala2533Val)
c.1547C>T (p.Ala516Val)
c.1805C>T (p.Ala602Val)
c.7580C>T (p.Ala2527Val)
c.7499C>T (p.Ala2500Val)
n.6850C>T
c.7508C>T (p.Ala2503Val)
c.7385C>T (p.Ala2462Val)
n.1635C>T
c.4991C>T (p.Ala1664Val)
c.7604C>T (p.Ala2535Val)
c.5414C>T (p.Ala1805Val)
c.5090C>T (p.Ala1697Val)
 gnomAD v4
11g.118503401T>ACA477359478KMT2Ac.7608T>A (p.Ala2536=)
c.7599T>A (p.Ala2533=)
c.1548T>A (p.Ala516=)
c.1806T>A (p.Ala602=)
c.7581T>A (p.Ala2527=)
c.7500T>A (p.Ala2500=)
n.6851T>A
c.7509T>A (p.Ala2503=)
c.7386T>A (p.Ala2462=)
n.1636T>A
c.4992T>A (p.Ala1664=)
c.7605T>A (p.Ala2535=)
c.5415T>A (p.Ala1805=)
c.5091T>A (p.Ala1697=)
11g.118503401T>CCA477359479KMT2Ac.7608T>C (p.Ala2536=)
c.7599T>C (p.Ala2533=)
c.1548T>C (p.Ala516=)
c.1806T>C (p.Ala602=)
c.7581T>C (p.Ala2527=)
c.7500T>C (p.Ala2500=)
n.6851T>C
c.7509T>C (p.Ala2503=)
c.7386T>C (p.Ala2462=)
n.1636T>C
c.4992T>C (p.Ala1664=)
c.7605T>C (p.Ala2535=)
c.5415T>C (p.Ala1805=)
c.5091T>C (p.Ala1697=)
11g.118503401T>GCA477359480KMT2Ac.7608T>G (p.Ala2536=)
c.7599T>G (p.Ala2533=)
c.1548T>G (p.Ala516=)
c.1806T>G (p.Ala602=)
c.7581T>G (p.Ala2527=)
c.7500T>G (p.Ala2500=)
n.6851T>G
c.7509T>G (p.Ala2503=)
c.7386T>G (p.Ala2462=)
n.1636T>G
c.4992T>G (p.Ala1664=)
c.7605T>G (p.Ala2535=)
c.5415T>G (p.Ala1805=)
c.5091T>G (p.Ala1697=)
11g.118503402C>ACA382805845KMT2Ac.7609C>A (p.Pro2537Thr)
c.7600C>A (p.Pro2534Thr)
c.1549C>A (p.Pro517Thr)
c.1807C>A (p.Pro603Thr)
c.7582C>A (p.Pro2528Thr)
c.7501C>A (p.Pro2501Thr)
n.6852C>A
c.7510C>A (p.Pro2504Thr)
c.7387C>A (p.Pro2463Thr)
n.1637C>A
c.4993C>A (p.Pro1665Thr)
c.7606C>A (p.Pro2536Thr)
c.5416C>A (p.Pro1806Thr)
c.5092C>A (p.Pro1698Thr)
11g.118503402C>GCA382805846KMT2Ac.7609C>G (p.Pro2537Ala)
c.7600C>G (p.Pro2534Ala)
c.1549C>G (p.Pro517Ala)
c.1807C>G (p.Pro603Ala)
c.7582C>G (p.Pro2528Ala)
c.7501C>G (p.Pro2501Ala)
n.6852C>G
c.7510C>G (p.Pro2504Ala)
c.7387C>G (p.Pro2463Ala)
n.1637C>G
c.4993C>G (p.Pro1665Ala)
c.7606C>G (p.Pro2536Ala)
c.5416C>G (p.Pro1806Ala)
c.5092C>G (p.Pro1698Ala)
11g.118503402C>TCA382805848KMT2Ac.7609C>T (p.Pro2537Ser)
c.7600C>T (p.Pro2534Ser)
c.1549C>T (p.Pro517Ser)
c.1807C>T (p.Pro603Ser)
c.7582C>T (p.Pro2528Ser)
c.7501C>T (p.Pro2501Ser)
n.6852C>T
c.7510C>T (p.Pro2504Ser)
c.7387C>T (p.Pro2463Ser)
n.1637C>T
c.4993C>T (p.Pro1665Ser)
c.7606C>T (p.Pro2536Ser)
c.5416C>T (p.Pro1806Ser)
c.5092C>T (p.Pro1698Ser)
 gnomAD v4
11g.118503403C>ACA382805850KMT2Ac.7610C>A (p.Pro2537Gln)
c.7601C>A (p.Pro2534Gln)
c.1550C>A (p.Pro517Gln)
c.1808C>A (p.Pro603Gln)
c.7583C>A (p.Pro2528Gln)
c.7502C>A (p.Pro2501Gln)
n.6853C>A
c.7511C>A (p.Pro2504Gln)
c.7388C>A (p.Pro2463Gln)
n.1638C>A
c.4994C>A (p.Pro1665Gln)
c.7607C>A (p.Pro2536Gln)
c.5417C>A (p.Pro1806Gln)
c.5093C>A (p.Pro1698Gln)
11g.118503403C>GCA382805852KMT2Ac.7610C>G (p.Pro2537Arg)
c.7601C>G (p.Pro2534Arg)
c.1550C>G (p.Pro517Arg)
c.1808C>G (p.Pro603Arg)
c.7583C>G (p.Pro2528Arg)
c.7502C>G (p.Pro2501Arg)
n.6853C>G
c.7511C>G (p.Pro2504Arg)
c.7388C>G (p.Pro2463Arg)
n.1638C>G
c.4994C>G (p.Pro1665Arg)
c.7607C>G (p.Pro2536Arg)
c.5417C>G (p.Pro1806Arg)
c.5093C>G (p.Pro1698Arg)
11g.118503403C>TCA382805853KMT2Ac.7610C>T (p.Pro2537Leu)
c.7601C>T (p.Pro2534Leu)
c.1550C>T (p.Pro517Leu)
c.1808C>T (p.Pro603Leu)
c.7583C>T (p.Pro2528Leu)
c.7502C>T (p.Pro2501Leu)
n.6853C>T
c.7511C>T (p.Pro2504Leu)
c.7388C>T (p.Pro2463Leu)
n.1638C>T
c.4994C>T (p.Pro1665Leu)
c.7607C>T (p.Pro2536Leu)
c.5417C>T (p.Pro1806Leu)
c.5093C>T (p.Pro1698Leu)
 gnomAD v4
11g.118503404A=CA2003527844KMT2Ac.7611A= (p.Pro2537=)
c.7602A= (p.Pro2534=)
c.1551A= (p.Pro517=)
c.1809A= (p.Pro603=)
c.7584A= (p.Pro2528=)
c.7503A= (p.Pro2501=)
n.6854A=
c.7512A= (p.Pro2504=)
c.7389A= (p.Pro2463=)
n.1639A=
c.4995A= (p.Pro1665=)
c.7608A= (p.Pro2536=)
c.5418A= (p.Pro1806=)
c.5094A= (p.Pro1698=)
11g.118503404A>CCA477359600KMT2Ac.7611A>C (p.Pro2537=)
c.7602A>C (p.Pro2534=)
c.1551A>C (p.Pro517=)
c.1809A>C (p.Pro603=)
c.7584A>C (p.Pro2528=)
c.7503A>C (p.Pro2501=)
n.6854A>C
c.7512A>C (p.Pro2504=)
c.7389A>C (p.Pro2463=)
n.1639A>C
c.4995A>C (p.Pro1665=)
c.7608A>C (p.Pro2536=)
c.5418A>C (p.Pro1806=)
c.5094A>C (p.Pro1698=)
 dbSNP
11g.118503404A>GCA477359601KMT2Ac.7611A>G (p.Pro2537=)
c.7602A>G (p.Pro2534=)
c.1551A>G (p.Pro517=)
c.1809A>G (p.Pro603=)
c.7584A>G (p.Pro2528=)
c.7503A>G (p.Pro2501=)
n.6854A>G
c.7512A>G (p.Pro2504=)
c.7389A>G (p.Pro2463=)
n.1639A>G
c.4995A>G (p.Pro1665=)
c.7608A>G (p.Pro2536=)
c.5418A>G (p.Pro1806=)
c.5094A>G (p.Pro1698=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503404A>TCA477359602KMT2Ac.7611A>T (p.Pro2537=)
c.7602A>T (p.Pro2534=)
c.1551A>T (p.Pro517=)
c.1809A>T (p.Pro603=)
c.7584A>T (p.Pro2528=)
c.7503A>T (p.Pro2501=)
n.6854A>T
c.7512A>T (p.Pro2504=)
c.7389A>T (p.Pro2463=)
n.1639A>T
c.4995A>T (p.Pro1665=)
c.7608A>T (p.Pro2536=)
c.5418A>T (p.Pro1806=)
c.5094A>T (p.Pro1698=)
11g.118503405C>ACA382805855KMT2Ac.7612C>A (p.Pro2538Thr)
c.7603C>A (p.Pro2535Thr)
c.1552C>A (p.Pro518Thr)
c.1810C>A (p.Pro604Thr)
c.7585C>A (p.Pro2529Thr)
c.7504C>A (p.Pro2502Thr)
n.6855C>A
c.7513C>A (p.Pro2505Thr)
c.7390C>A (p.Pro2464Thr)
n.1640C>A
c.4996C>A (p.Pro1666Thr)
c.7609C>A (p.Pro2537Thr)
c.5419C>A (p.Pro1807Thr)
c.5095C>A (p.Pro1699Thr)
11g.118503405C>GCA382805857KMT2Ac.7612C>G (p.Pro2538Ala)
c.7603C>G (p.Pro2535Ala)
c.1552C>G (p.Pro518Ala)
c.1810C>G (p.Pro604Ala)
c.7585C>G (p.Pro2529Ala)
c.7504C>G (p.Pro2502Ala)
n.6855C>G
c.7513C>G (p.Pro2505Ala)
c.7390C>G (p.Pro2464Ala)
n.1640C>G
c.4996C>G (p.Pro1666Ala)
c.7609C>G (p.Pro2537Ala)
c.5419C>G (p.Pro1807Ala)
c.5095C>G (p.Pro1699Ala)
11g.118503405C>TCA382805858KMT2Ac.7612C>T (p.Pro2538Ser)
c.7603C>T (p.Pro2535Ser)
c.1552C>T (p.Pro518Ser)
c.1810C>T (p.Pro604Ser)
c.7585C>T (p.Pro2529Ser)
c.7504C>T (p.Pro2502Ser)
n.6855C>T
c.7513C>T (p.Pro2505Ser)
c.7390C>T (p.Pro2464Ser)
n.1640C>T
c.4996C>T (p.Pro1666Ser)
c.7609C>T (p.Pro2537Ser)
c.5419C>T (p.Pro1807Ser)
c.5095C>T (p.Pro1699Ser)
 dbSNP gnomAD v4
11g.118503406C>ACA229526884KMT2Ac.7613C>A (p.Pro2538His)
c.7604C>A (p.Pro2535His)
c.1553C>A (p.Pro518His)
c.1811C>A (p.Pro604His)
c.7586C>A (p.Pro2529His)
c.7505C>A (p.Pro2502His)
n.6856C>A
c.7514C>A (p.Pro2505His)
c.7391C>A (p.Pro2464His)
n.1641C>A
c.4997C>A (p.Pro1666His)
c.7610C>A (p.Pro2537His)
c.5420C>A (p.Pro1807His)
c.5096C>A (p.Pro1699His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503406C=CA2003527847KMT2Ac.7613C= (p.Pro2538=)
c.7604C= (p.Pro2535=)
c.1553C= (p.Pro518=)
c.1811C= (p.Pro604=)
c.7586C= (p.Pro2529=)
c.7505C= (p.Pro2502=)
n.6856C=
c.7514C= (p.Pro2505=)
c.7391C= (p.Pro2464=)
n.1641C=
c.4997C= (p.Pro1666=)
c.7610C= (p.Pro2537=)
c.5420C= (p.Pro1807=)
c.5096C= (p.Pro1699=)
11g.118503406C>GCA382805861KMT2Ac.7613C>G (p.Pro2538Arg)
c.7604C>G (p.Pro2535Arg)
c.1553C>G (p.Pro518Arg)
c.1811C>G (p.Pro604Arg)
c.7586C>G (p.Pro2529Arg)
c.7505C>G (p.Pro2502Arg)
n.6856C>G
c.7514C>G (p.Pro2505Arg)
c.7391C>G (p.Pro2464Arg)
n.1641C>G
c.4997C>G (p.Pro1666Arg)
c.7610C>G (p.Pro2537Arg)
c.5420C>G (p.Pro1807Arg)
c.5096C>G (p.Pro1699Arg)
11g.118503406C>TCA382805863KMT2Ac.7613C>T (p.Pro2538Leu)
c.7604C>T (p.Pro2535Leu)
c.1553C>T (p.Pro518Leu)
c.1811C>T (p.Pro604Leu)
c.7586C>T (p.Pro2529Leu)
c.7505C>T (p.Pro2502Leu)
n.6856C>T
c.7514C>T (p.Pro2505Leu)
c.7391C>T (p.Pro2464Leu)
n.1641C>T
c.4997C>T (p.Pro1666Leu)
c.7610C>T (p.Pro2537Leu)
c.5420C>T (p.Pro1807Leu)
c.5096C>T (p.Pro1699Leu)
 dbSNP
11g.118503407C>ACA477359608KMT2Ac.7614C>A (p.Pro2538=)
c.7605C>A (p.Pro2535=)
c.1554C>A (p.Pro518=)
c.1812C>A (p.Pro604=)
c.7587C>A (p.Pro2529=)
c.7506C>A (p.Pro2502=)
n.6857C>A
c.7515C>A (p.Pro2505=)
c.7392C>A (p.Pro2464=)
n.1642C>A
c.4998C>A (p.Pro1666=)
c.7611C>A (p.Pro2537=)
c.5421C>A (p.Pro1807=)
c.5097C>A (p.Pro1699=)
11g.118503407C>GCA477359610KMT2Ac.7614C>G (p.Pro2538=)
c.7605C>G (p.Pro2535=)
c.1554C>G (p.Pro518=)
c.1812C>G (p.Pro604=)
c.7587C>G (p.Pro2529=)
c.7506C>G (p.Pro2502=)
n.6857C>G
c.7515C>G (p.Pro2505=)
c.7392C>G (p.Pro2464=)
n.1642C>G
c.4998C>G (p.Pro1666=)
c.7611C>G (p.Pro2537=)
c.5421C>G (p.Pro1807=)
c.5097C>G (p.Pro1699=)
11g.118503407C>TCA477359613KMT2Ac.7614C>T (p.Pro2538=)
c.7605C>T (p.Pro2535=)
c.1554C>T (p.Pro518=)
c.1812C>T (p.Pro604=)
c.7587C>T (p.Pro2529=)
c.7506C>T (p.Pro2502=)
n.6857C>T
c.7515C>T (p.Pro2505=)
c.7392C>T (p.Pro2464=)
n.1642C>T
c.4998C>T (p.Pro1666=)
c.7611C>T (p.Pro2537=)
c.5421C>T (p.Pro1807=)
c.5097C>T (p.Pro1699=)
11g.118503408A=CA2003527852KMT2Ac.7615A= (p.Met2539=)
c.7606A= (p.Met2536=)
c.1555A= (p.Met519=)
c.1813A= (p.Met605=)
c.7588A= (p.Met2530=)
c.7507A= (p.Met2503=)
n.6858A=
c.7516A= (p.Met2506=)
c.7393A= (p.Met2465=)
n.1643A=
c.4999A= (p.Met1667=)
c.7612A= (p.Met2538=)
c.5422A= (p.Met1808=)
c.5098A= (p.Met1700=)
11g.118503408A>CCA382805865KMT2Ac.7615A>C (p.Met2539Leu)
c.7606A>C (p.Met2536Leu)
c.1555A>C (p.Met519Leu)
c.1813A>C (p.Met605Leu)
c.7588A>C (p.Met2530Leu)
c.7507A>C (p.Met2503Leu)
n.6858A>C
c.7516A>C (p.Met2506Leu)
c.7393A>C (p.Met2465Leu)
n.1643A>C
c.4999A>C (p.Met1667Leu)
c.7612A>C (p.Met2538Leu)
c.5422A>C (p.Met1808Leu)
c.5098A>C (p.Met1700Leu)
11g.118503408A>GCA6304406KMT2Ac.7615A>G (p.Met2539Val)
c.7606A>G (p.Met2536Val)
c.1555A>G (p.Met519Val)
c.1813A>G (p.Met605Val)
c.7588A>G (p.Met2530Val)
c.7507A>G (p.Met2503Val)
n.6858A>G
c.7516A>G (p.Met2506Val)
c.7393A>G (p.Met2465Val)
n.1643A>G
c.4999A>G (p.Met1667Val)
c.7612A>G (p.Met2538Val)
c.5422A>G (p.Met1808Val)
c.5098A>G (p.Met1700Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503408A>TCA6304405KMT2Ac.7615A>T (p.Met2539Leu)
c.7606A>T (p.Met2536Leu)
c.1555A>T (p.Met519Leu)
c.1813A>T (p.Met605Leu)
c.7588A>T (p.Met2530Leu)
c.7507A>T (p.Met2503Leu)
n.6858A>T
c.7516A>T (p.Met2506Leu)
c.7393A>T (p.Met2465Leu)
n.1643A>T
c.4999A>T (p.Met1667Leu)
c.7612A>T (p.Met2538Leu)
c.5422A>T (p.Met1808Leu)
c.5098A>T (p.Met1700Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503409T>ACA382805868KMT2Ac.7616T>A (p.Met2539Lys)
c.7607T>A (p.Met2536Lys)
c.1556T>A (p.Met519Lys)
c.1814T>A (p.Met605Lys)
c.7589T>A (p.Met2530Lys)
c.7508T>A (p.Met2503Lys)
n.6859T>A
c.7517T>A (p.Met2506Lys)
c.7394T>A (p.Met2465Lys)
n.1644T>A
c.5000T>A (p.Met1667Lys)
c.7613T>A (p.Met2538Lys)
c.5423T>A (p.Met1808Lys)
c.5099T>A (p.Met1700Lys)
11g.118503409T>CCA382805869KMT2Ac.7616T>C (p.Met2539Thr)
c.7607T>C (p.Met2536Thr)
c.1556T>C (p.Met519Thr)
c.1814T>C (p.Met605Thr)
c.7589T>C (p.Met2530Thr)
c.7508T>C (p.Met2503Thr)
n.6859T>C
c.7517T>C (p.Met2506Thr)
c.7394T>C (p.Met2465Thr)
n.1644T>C
c.5000T>C (p.Met1667Thr)
c.7613T>C (p.Met2538Thr)
c.5423T>C (p.Met1808Thr)
c.5099T>C (p.Met1700Thr)
 ClinVar
11g.118503409T>GCA382805871KMT2Ac.7616T>G (p.Met2539Arg)
c.7607T>G (p.Met2536Arg)
c.1556T>G (p.Met519Arg)
c.1814T>G (p.Met605Arg)
c.7589T>G (p.Met2530Arg)
c.7508T>G (p.Met2503Arg)
n.6859T>G
c.7517T>G (p.Met2506Arg)
c.7394T>G (p.Met2465Arg)
n.1644T>G
c.5000T>G (p.Met1667Arg)
c.7613T>G (p.Met2538Arg)
c.5423T>G (p.Met1808Arg)
c.5099T>G (p.Met1700Arg)
11g.118503410G>ACA382805873KMT2Ac.7617G>A (p.Met2539Ile)
c.7608G>A (p.Met2536Ile)
c.1557G>A (p.Met519Ile)
c.1815G>A (p.Met605Ile)
c.7590G>A (p.Met2530Ile)
c.7509G>A (p.Met2503Ile)
n.6860G>A
c.7518G>A (p.Met2506Ile)
c.7395G>A (p.Met2465Ile)
n.1645G>A
c.5001G>A (p.Met1667Ile)
c.7614G>A (p.Met2538Ile)
c.5424G>A (p.Met1808Ile)
c.5100G>A (p.Met1700Ile)
11g.118503410G>CCA382805875KMT2Ac.7617G>C (p.Met2539Ile)
c.7608G>C (p.Met2536Ile)
c.1557G>C (p.Met519Ile)
c.1815G>C (p.Met605Ile)
c.7590G>C (p.Met2530Ile)
c.7509G>C (p.Met2503Ile)
n.6860G>C
c.7518G>C (p.Met2506Ile)
c.7395G>C (p.Met2465Ile)
n.1645G>C
c.5001G>C (p.Met1667Ile)
c.7614G>C (p.Met2538Ile)
c.5424G>C (p.Met1808Ile)
c.5100G>C (p.Met1700Ile)
 dbSNP
11g.118503410G=CA2003527856KMT2Ac.7617G= (p.Met2539=)
c.7608G= (p.Met2536=)
c.1557G= (p.Met519=)
c.1815G= (p.Met605=)
c.7590G= (p.Met2530=)
c.7509G= (p.Met2503=)
n.6860G=
c.7518G= (p.Met2506=)
c.7395G= (p.Met2465=)
n.1645G=
c.5001G= (p.Met1667=)
c.7614G= (p.Met2538=)
c.5424G= (p.Met1808=)
c.5100G= (p.Met1700=)
11g.118503410G>TCA6304407KMT2Ac.7617G>T (p.Met2539Ile)
c.7608G>T (p.Met2536Ile)
c.1557G>T (p.Met519Ile)
c.1815G>T (p.Met605Ile)
c.7590G>T (p.Met2530Ile)
c.7509G>T (p.Met2503Ile)
n.6860G>T
c.7518G>T (p.Met2506Ile)
c.7395G>T (p.Met2465Ile)
n.1645G>T
c.5001G>T (p.Met1667Ile)
c.7614G>T (p.Met2538Ile)
c.5424G>T (p.Met1808Ile)
c.5100G>T (p.Met1700Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503411C>ACA382805876KMT2Ac.7618C>A (p.Gln2540Lys)
c.7609C>A (p.Gln2537Lys)
c.1558C>A (p.Gln520Lys)
c.1816C>A (p.Gln606Lys)
c.7591C>A (p.Gln2531Lys)
c.7510C>A (p.Gln2504Lys)
n.6861C>A
c.7519C>A (p.Gln2507Lys)
c.7396C>A (p.Gln2466Lys)
n.1646C>A
c.5002C>A (p.Gln1668Lys)
c.7615C>A (p.Gln2539Lys)
c.5425C>A (p.Gln1809Lys)
c.5101C>A (p.Gln1701Lys)
11g.118503411C>GCA382805879KMT2Ac.7618C>G (p.Gln2540Glu)
c.7609C>G (p.Gln2537Glu)
c.1558C>G (p.Gln520Glu)
c.1816C>G (p.Gln606Glu)
c.7591C>G (p.Gln2531Glu)
c.7510C>G (p.Gln2504Glu)
n.6861C>G
c.7519C>G (p.Gln2507Glu)
c.7396C>G (p.Gln2466Glu)
n.1646C>G
c.5002C>G (p.Gln1668Glu)
c.7615C>G (p.Gln2539Glu)
c.5425C>G (p.Gln1809Glu)
c.5101C>G (p.Gln1701Glu)
11g.118503411C>TCA382805877KMT2Ac.7618C>T (p.Gln2540Ter)
c.7609C>T (p.Gln2537Ter)
c.1558C>T (p.Gln520Ter)
c.1816C>T (p.Gln606Ter)
c.7591C>T (p.Gln2531Ter)
c.7510C>T (p.Gln2504Ter)
n.6861C>T
c.7519C>T (p.Gln2507Ter)
c.7396C>T (p.Gln2466Ter)
n.1646C>T
c.5002C>T (p.Gln1668Ter)
c.7615C>T (p.Gln2539Ter)
c.5425C>T (p.Gln1809Ter)
c.5101C>T (p.Gln1701Ter)
 dbSNP
11g.118503412A>CCA382805880KMT2Ac.7619A>C (p.Gln2540Pro)
c.7610A>C (p.Gln2537Pro)
c.1559A>C (p.Gln520Pro)
c.1817A>C (p.Gln606Pro)
c.7592A>C (p.Gln2531Pro)
c.7511A>C (p.Gln2504Pro)
n.6862A>C
c.7520A>C (p.Gln2507Pro)
c.7397A>C (p.Gln2466Pro)
n.1647A>C
c.5003A>C (p.Gln1668Pro)
c.7616A>C (p.Gln2539Pro)
c.5426A>C (p.Gln1809Pro)
c.5102A>C (p.Gln1701Pro)
11g.118503412A>GCA382805882KMT2Ac.7619A>G (p.Gln2540Arg)
c.7610A>G (p.Gln2537Arg)
c.1559A>G (p.Gln520Arg)
c.1817A>G (p.Gln606Arg)
c.7592A>G (p.Gln2531Arg)
c.7511A>G (p.Gln2504Arg)
n.6862A>G
c.7520A>G (p.Gln2507Arg)
c.7397A>G (p.Gln2466Arg)
n.1647A>G
c.5003A>G (p.Gln1668Arg)
c.7616A>G (p.Gln2539Arg)
c.5426A>G (p.Gln1809Arg)
c.5102A>G (p.Gln1701Arg)
 gnomAD v4
11g.118503412A>TCA382805883KMT2Ac.7619A>T (p.Gln2540Leu)
c.7610A>T (p.Gln2537Leu)
c.1559A>T (p.Gln520Leu)
c.1817A>T (p.Gln606Leu)
c.7592A>T (p.Gln2531Leu)
c.7511A>T (p.Gln2504Leu)
n.6862A>T
c.7520A>T (p.Gln2507Leu)
c.7397A>T (p.Gln2466Leu)
n.1647A>T
c.5003A>T (p.Gln1668Leu)
c.7616A>T (p.Gln2539Leu)
c.5426A>T (p.Gln1809Leu)
c.5102A>T (p.Gln1701Leu)
 gnomAD v4
11g.118503413A>CCA382805885KMT2Ac.7620A>C (p.Gln2540His)
c.7611A>C (p.Gln2537His)
c.1560A>C (p.Gln520His)
c.1818A>C (p.Gln606His)
c.7593A>C (p.Gln2531His)
c.7512A>C (p.Gln2504His)
n.6863A>C
c.7521A>C (p.Gln2507His)
c.7398A>C (p.Gln2466His)
n.1648A>C
c.5004A>C (p.Gln1668His)
c.7617A>C (p.Gln2539His)
c.5427A>C (p.Gln1809His)
c.5103A>C (p.Gln1701His)
11g.118503413A>GCA477359622KMT2Ac.7620A>G (p.Gln2540=)
c.7611A>G (p.Gln2537=)
c.1560A>G (p.Gln520=)
c.1818A>G (p.Gln606=)
c.7593A>G (p.Gln2531=)
c.7512A>G (p.Gln2504=)
n.6863A>G
c.7521A>G (p.Gln2507=)
c.7398A>G (p.Gln2466=)
n.1648A>G
c.5004A>G (p.Gln1668=)
c.7617A>G (p.Gln2539=)
c.5427A>G (p.Gln1809=)
c.5103A>G (p.Gln1701=)
11g.118503413A>TCA382805886KMT2Ac.7620A>T (p.Gln2540His)
c.7611A>T (p.Gln2537His)
c.1560A>T (p.Gln520His)
c.1818A>T (p.Gln606His)
c.7593A>T (p.Gln2531His)
c.7512A>T (p.Gln2504His)
n.6863A>T
c.7521A>T (p.Gln2507His)
c.7398A>T (p.Gln2466His)
n.1648A>T
c.5004A>T (p.Gln1668His)
c.7617A>T (p.Gln2539His)
c.5427A>T (p.Gln1809His)
c.5103A>T (p.Gln1701His)
11g.118503414G>ACA382805892KMT2Ac.7621G>A (p.Val2541Ile)
c.7612G>A (p.Val2538Ile)
c.1561G>A (p.Val521Ile)
c.1819G>A (p.Val607Ile)
c.7594G>A (p.Val2532Ile)
c.7513G>A (p.Val2505Ile)
n.6864G>A
c.7522G>A (p.Val2508Ile)
c.7399G>A (p.Val2467Ile)
n.1649G>A
c.5005G>A (p.Val1669Ile)
c.7618G>A (p.Val2540Ile)
c.5428G>A (p.Val1810Ile)
c.5104G>A (p.Val1702Ile)
 dbSNP
11g.118503414G>CCA382805890KMT2Ac.7621G>C (p.Val2541Leu)
c.7612G>C (p.Val2538Leu)
c.1561G>C (p.Val521Leu)
c.1819G>C (p.Val607Leu)
c.7594G>C (p.Val2532Leu)
c.7513G>C (p.Val2505Leu)
n.6864G>C
c.7522G>C (p.Val2508Leu)
c.7399G>C (p.Val2467Leu)
n.1649G>C
c.5005G>C (p.Val1669Leu)
c.7618G>C (p.Val2540Leu)
c.5428G>C (p.Val1810Leu)
c.5104G>C (p.Val1702Leu)
11g.118503414G>TCA382805888KMT2Ac.7621G>T (p.Val2541Leu)
c.7612G>T (p.Val2538Leu)
c.1561G>T (p.Val521Leu)
c.1819G>T (p.Val607Leu)
c.7594G>T (p.Val2532Leu)
c.7513G>T (p.Val2505Leu)
n.6864G>T
c.7522G>T (p.Val2508Leu)
c.7399G>T (p.Val2467Leu)
n.1649G>T
c.5005G>T (p.Val1669Leu)
c.7618G>T (p.Val2540Leu)
c.5428G>T (p.Val1810Leu)
c.5104G>T (p.Val1702Leu)
11g.118503415T>ACA382805897KMT2Ac.7622T>A (p.Val2541Glu)
c.7613T>A (p.Val2538Glu)
c.1562T>A (p.Val521Glu)
c.1820T>A (p.Val607Glu)
c.7595T>A (p.Val2532Glu)
c.7514T>A (p.Val2505Glu)
n.6865T>A
c.7523T>A (p.Val2508Glu)
c.7400T>A (p.Val2467Glu)
n.1650T>A
c.5006T>A (p.Val1669Glu)
c.7619T>A (p.Val2540Glu)
c.5429T>A (p.Val1810Glu)
c.5105T>A (p.Val1702Glu)
11g.118503415T>CCA382805893KMT2Ac.7622T>C (p.Val2541Ala)
c.7613T>C (p.Val2538Ala)
c.1562T>C (p.Val521Ala)
c.1820T>C (p.Val607Ala)
c.7595T>C (p.Val2532Ala)
c.7514T>C (p.Val2505Ala)
n.6865T>C
c.7523T>C (p.Val2508Ala)
c.7400T>C (p.Val2467Ala)
n.1650T>C
c.5006T>C (p.Val1669Ala)
c.7619T>C (p.Val2540Ala)
c.5429T>C (p.Val1810Ala)
c.5105T>C (p.Val1702Ala)
 gnomAD v4
11g.118503415T>GCA382805895KMT2Ac.7622T>G (p.Val2541Gly)
c.7613T>G (p.Val2538Gly)
c.1562T>G (p.Val521Gly)
c.1820T>G (p.Val607Gly)
c.7595T>G (p.Val2532Gly)
c.7514T>G (p.Val2505Gly)
n.6865T>G
c.7523T>G (p.Val2508Gly)
c.7400T>G (p.Val2467Gly)
n.1650T>G
c.5006T>G (p.Val1669Gly)
c.7619T>G (p.Val2540Gly)
c.5429T>G (p.Val1810Gly)
c.5105T>G (p.Val1702Gly)
11g.118503416A>CCA477359625KMT2Ac.7623A>C (p.Val2541=)
c.7614A>C (p.Val2538=)
c.1563A>C (p.Val521=)
c.1821A>C (p.Val607=)
c.7596A>C (p.Val2532=)
c.7515A>C (p.Val2505=)
n.6866A>C
c.7524A>C (p.Val2508=)
c.7401A>C (p.Val2467=)
n.1651A>C
c.5007A>C (p.Val1669=)
c.7620A>C (p.Val2540=)
c.5430A>C (p.Val1810=)
c.5106A>C (p.Val1702=)
11g.118503416A>GCA477359628KMT2Ac.7623A>G (p.Val2541=)
c.7614A>G (p.Val2538=)
c.1563A>G (p.Val521=)
c.1821A>G (p.Val607=)
c.7596A>G (p.Val2532=)
c.7515A>G (p.Val2505=)
n.6866A>G
c.7524A>G (p.Val2508=)
c.7401A>G (p.Val2467=)
n.1651A>G
c.5007A>G (p.Val1669=)
c.7620A>G (p.Val2540=)
c.5430A>G (p.Val1810=)
c.5106A>G (p.Val1702=)
11g.118503416A>TCA477359626KMT2Ac.7623A>T (p.Val2541=)
c.7614A>T (p.Val2538=)
c.1563A>T (p.Val521=)
c.1821A>T (p.Val607=)
c.7596A>T (p.Val2532=)
c.7515A>T (p.Val2505=)
n.6866A>T
c.7524A>T (p.Val2508=)
c.7401A>T (p.Val2467=)
n.1651A>T
c.5007A>T (p.Val1669=)
c.7620A>T (p.Val2540=)
c.5430A>T (p.Val1810=)
c.5106A>T (p.Val1702=)
11g.118503418_118503420delCA2580083624KMT2Ac.7625_7627del (p.Glu2542del)
c.7616_7618del (p.Glu2539del)
c.1565_1567del (p.Glu522del)
c.1823_1825del (p.Glu608del)
c.7598_7600del (p.Glu2533del)
c.7517_7519del (p.Glu2506del)
n.6868_6870del
c.7526_7528del (p.Glu2509del)
c.7403_7405del (p.Glu2468del)
n.1653_1655del
c.5009_5011del (p.Glu1670del)
c.7622_7624del (p.Glu2541del)
c.5432_5434del (p.Glu1811del)
c.5108_5110del (p.Glu1703del)
 ClinVar
11g.118503417G>ACA382805899KMT2Ac.7624G>A (p.Glu2542Lys)
c.7615G>A (p.Glu2539Lys)
c.1564G>A (p.Glu522Lys)
c.1822G>A (p.Glu608Lys)
c.7597G>A (p.Glu2533Lys)
c.7516G>A (p.Glu2506Lys)
n.6867G>A
c.7525G>A (p.Glu2509Lys)
c.7402G>A (p.Glu2468Lys)
n.1652G>A
c.5008G>A (p.Glu1670Lys)
c.7621G>A (p.Glu2541Lys)
c.5431G>A (p.Glu1811Lys)
c.5107G>A (p.Glu1703Lys)
 COSMIC COSMIC
11g.118503417G>CCA382805900KMT2Ac.7624G>C (p.Glu2542Gln)
c.7615G>C (p.Glu2539Gln)
c.1564G>C (p.Glu522Gln)
c.1822G>C (p.Glu608Gln)
c.7597G>C (p.Glu2533Gln)
c.7516G>C (p.Glu2506Gln)
n.6867G>C
c.7525G>C (p.Glu2509Gln)
c.7402G>C (p.Glu2468Gln)
n.1652G>C
c.5008G>C (p.Glu1670Gln)
c.7621G>C (p.Glu2541Gln)
c.5431G>C (p.Glu1811Gln)
c.5107G>C (p.Glu1703Gln)
 COSMIC COSMIC
11g.118503417G>TCA382805902KMT2Ac.7624G>T (p.Glu2542Ter)
c.7615G>T (p.Glu2539Ter)
c.1564G>T (p.Glu522Ter)
c.1822G>T (p.Glu608Ter)
c.7597G>T (p.Glu2533Ter)
c.7516G>T (p.Glu2506Ter)
n.6867G>T
c.7525G>T (p.Glu2509Ter)
c.7402G>T (p.Glu2468Ter)
n.1652G>T
c.5008G>T (p.Glu1670Ter)
c.7621G>T (p.Glu2541Ter)
c.5431G>T (p.Glu1811Ter)
c.5107G>T (p.Glu1703Ter)
11g.118503418A>CCA382805904KMT2Ac.7625A>C (p.Glu2542Ala)
c.7616A>C (p.Glu2539Ala)
c.1565A>C (p.Glu522Ala)
c.1823A>C (p.Glu608Ala)
c.7598A>C (p.Glu2533Ala)
c.7517A>C (p.Glu2506Ala)
n.6868A>C
c.7526A>C (p.Glu2509Ala)
c.7403A>C (p.Glu2468Ala)
n.1653A>C
c.5009A>C (p.Glu1670Ala)
c.7622A>C (p.Glu2541Ala)
c.5432A>C (p.Glu1811Ala)
c.5108A>C (p.Glu1703Ala)
11g.118503418A>GCA382805906KMT2Ac.7625A>G (p.Glu2542Gly)
c.7616A>G (p.Glu2539Gly)
c.1565A>G (p.Glu522Gly)
c.1823A>G (p.Glu608Gly)
c.7598A>G (p.Glu2533Gly)
c.7517A>G (p.Glu2506Gly)
n.6868A>G
c.7526A>G (p.Glu2509Gly)
c.7403A>G (p.Glu2468Gly)
n.1653A>G
c.5009A>G (p.Glu1670Gly)
c.7622A>G (p.Glu2541Gly)
c.5432A>G (p.Glu1811Gly)
c.5108A>G (p.Glu1703Gly)
11g.118503418A>TCA382805907KMT2Ac.7625A>T (p.Glu2542Val)
c.7616A>T (p.Glu2539Val)
c.1565A>T (p.Glu522Val)
c.1823A>T (p.Glu608Val)
c.7598A>T (p.Glu2533Val)
c.7517A>T (p.Glu2506Val)
n.6868A>T
c.7526A>T (p.Glu2509Val)
c.7403A>T (p.Glu2468Val)
n.1653A>T
c.5009A>T (p.Glu1670Val)
c.7622A>T (p.Glu2541Val)
c.5432A>T (p.Glu1811Val)
c.5108A>T (p.Glu1703Val)
11g.118503419A>CCA382805908KMT2Ac.7626A>C (p.Glu2542Asp)
c.7617A>C (p.Glu2539Asp)
c.1566A>C (p.Glu522Asp)
c.1824A>C (p.Glu608Asp)
c.7599A>C (p.Glu2533Asp)
c.7518A>C (p.Glu2506Asp)
n.6869A>C
c.7527A>C (p.Glu2509Asp)
c.7404A>C (p.Glu2468Asp)
n.1654A>C
c.5010A>C (p.Glu1670Asp)
c.7623A>C (p.Glu2541Asp)
c.5433A>C (p.Glu1811Asp)
c.5109A>C (p.Glu1703Asp)
11g.118503419A>GCA477359633KMT2Ac.7626A>G (p.Glu2542=)
c.7617A>G (p.Glu2539=)
c.1566A>G (p.Glu522=)
c.1824A>G (p.Glu608=)
c.7599A>G (p.Glu2533=)
c.7518A>G (p.Glu2506=)
n.6869A>G
c.7527A>G (p.Glu2509=)
c.7404A>G (p.Glu2468=)
n.1654A>G
c.5010A>G (p.Glu1670=)
c.7623A>G (p.Glu2541=)
c.5433A>G (p.Glu1811=)
c.5109A>G (p.Glu1703=)
11g.118503419A>TCA382805909KMT2Ac.7626A>T (p.Glu2542Asp)
c.7617A>T (p.Glu2539Asp)
c.1566A>T (p.Glu522Asp)
c.1824A>T (p.Glu608Asp)
c.7599A>T (p.Glu2533Asp)
c.7518A>T (p.Glu2506Asp)
n.6869A>T
c.7527A>T (p.Glu2509Asp)
c.7404A>T (p.Glu2468Asp)
n.1654A>T
c.5010A>T (p.Glu1670Asp)
c.7623A>T (p.Glu2541Asp)
c.5433A>T (p.Glu1811Asp)
c.5109A>T (p.Glu1703Asp)
11g.118503420G>ACA382805912KMT2Ac.7627G>A (p.Gly2543Arg)
c.7618G>A (p.Gly2540Arg)
c.1567G>A (p.Gly523Arg)
c.1825G>A (p.Gly609Arg)
c.7600G>A (p.Gly2534Arg)
c.7519G>A (p.Gly2507Arg)
n.6870G>A
c.7528G>A (p.Gly2510Arg)
c.7405G>A (p.Gly2469Arg)
n.1655G>A
c.5011G>A (p.Gly1671Arg)
c.7624G>A (p.Gly2542Arg)
c.5434G>A (p.Gly1812Arg)
c.5110G>A (p.Gly1704Arg)
 dbSNP gnomAD v4
11g.118503420G>CCA382805913KMT2Ac.7627G>C (p.Gly2543Arg)
c.7618G>C (p.Gly2540Arg)
c.1567G>C (p.Gly523Arg)
c.1825G>C (p.Gly609Arg)
c.7600G>C (p.Gly2534Arg)
c.7519G>C (p.Gly2507Arg)
n.6870G>C
c.7528G>C (p.Gly2510Arg)
c.7405G>C (p.Gly2469Arg)
n.1655G>C
c.5011G>C (p.Gly1671Arg)
c.7624G>C (p.Gly2542Arg)
c.5434G>C (p.Gly1812Arg)
c.5110G>C (p.Gly1704Arg)
11g.118503420G=CA2003527860KMT2Ac.7627G= (p.Gly2543=)
c.7618G= (p.Gly2540=)
c.1567G= (p.Gly523=)
c.1825G= (p.Gly609=)
c.7600G= (p.Gly2534=)
c.7519G= (p.Gly2507=)
n.6870G=
c.7528G= (p.Gly2510=)
c.7405G= (p.Gly2469=)
n.1655G=
c.5011G= (p.Gly1671=)
c.7624G= (p.Gly2542=)
c.5434G= (p.Gly1812=)
c.5110G= (p.Gly1704=)
11g.118503420G>TCA382805914KMT2Ac.7627G>T (p.Gly2543Ter)
c.7618G>T (p.Gly2540Ter)
c.1567G>T (p.Gly523Ter)
c.1825G>T (p.Gly609Ter)
c.7600G>T (p.Gly2534Ter)
c.7519G>T (p.Gly2507Ter)
n.6870G>T
c.7528G>T (p.Gly2510Ter)
c.7405G>T (p.Gly2469Ter)
n.1655G>T
c.5011G>T (p.Gly1671Ter)
c.7624G>T (p.Gly2542Ter)
c.5434G>T (p.Gly1812Ter)
c.5110G>T (p.Gly1704Ter)
11g.118503421G>ACA382805915KMT2Ac.7628G>A (p.Gly2543Glu)
c.7619G>A (p.Gly2540Glu)
c.1568G>A (p.Gly523Glu)
c.1826G>A (p.Gly609Glu)
c.7601G>A (p.Gly2534Glu)
c.7520G>A (p.Gly2507Glu)
n.6871G>A
c.7529G>A (p.Gly2510Glu)
c.7406G>A (p.Gly2469Glu)
n.1656G>A
c.5012G>A (p.Gly1671Glu)
c.7625G>A (p.Gly2542Glu)
c.5435G>A (p.Gly1812Glu)
c.5111G>A (p.Gly1704Glu)
 dbSNP
11g.118503421G>CCA382805917KMT2Ac.7628G>C (p.Gly2543Ala)
c.7619G>C (p.Gly2540Ala)
c.1568G>C (p.Gly523Ala)
c.1826G>C (p.Gly609Ala)
c.7601G>C (p.Gly2534Ala)
c.7520G>C (p.Gly2507Ala)
n.6871G>C
c.7529G>C (p.Gly2510Ala)
c.7406G>C (p.Gly2469Ala)
n.1656G>C
c.5012G>C (p.Gly1671Ala)
c.7625G>C (p.Gly2542Ala)
c.5435G>C (p.Gly1812Ala)
c.5111G>C (p.Gly1704Ala)
11g.118503421G>TCA382805919KMT2Ac.7628G>T (p.Gly2543Val)
c.7619G>T (p.Gly2540Val)
c.1568G>T (p.Gly523Val)
c.1826G>T (p.Gly609Val)
c.7601G>T (p.Gly2534Val)
c.7520G>T (p.Gly2507Val)
n.6871G>T
c.7529G>T (p.Gly2510Val)
c.7406G>T (p.Gly2469Val)
n.1656G>T
c.5012G>T (p.Gly1671Val)
c.7625G>T (p.Gly2542Val)
c.5435G>T (p.Gly1812Val)
c.5111G>T (p.Gly1704Val)
11g.118503422A>CCA477359638KMT2Ac.7629A>C (p.Gly2543=)
c.7620A>C (p.Gly2540=)
c.1569A>C (p.Gly523=)
c.1827A>C (p.Gly609=)
c.7602A>C (p.Gly2534=)
c.7521A>C (p.Gly2507=)
n.6872A>C
c.7530A>C (p.Gly2510=)
c.7407A>C (p.Gly2469=)
n.1657A>C
c.5013A>C (p.Gly1671=)
c.7626A>C (p.Gly2542=)
c.5436A>C (p.Gly1812=)
c.5112A>C (p.Gly1704=)
11g.118503422A>GCA477359639KMT2Ac.7629A>G (p.Gly2543=)
c.7620A>G (p.Gly2540=)
c.1569A>G (p.Gly523=)
c.1827A>G (p.Gly609=)
c.7602A>G (p.Gly2534=)
c.7521A>G (p.Gly2507=)
n.6872A>G
c.7530A>G (p.Gly2510=)
c.7407A>G (p.Gly2469=)
n.1657A>G
c.5013A>G (p.Gly1671=)
c.7626A>G (p.Gly2542=)
c.5436A>G (p.Gly1812=)
c.5112A>G (p.Gly1704=)
11g.118503422A>TCA477359640KMT2Ac.7629A>T (p.Gly2543=)
c.7620A>T (p.Gly2540=)
c.1569A>T (p.Gly523=)
c.1827A>T (p.Gly609=)
c.7602A>T (p.Gly2534=)
c.7521A>T (p.Gly2507=)
n.6872A>T
c.7530A>T (p.Gly2510=)
c.7407A>T (p.Gly2469=)
n.1657A>T
c.5013A>T (p.Gly1671=)
c.7626A>T (p.Gly2542=)
c.5436A>T (p.Gly1812=)
c.5112A>T (p.Gly1704=)
11g.118503423T>ACA382805921KMT2Ac.7630T>A (p.Ser2544Thr)
c.7621T>A (p.Ser2541Thr)
c.1570T>A (p.Ser524Thr)
c.1828T>A (p.Ser610Thr)
c.7603T>A (p.Ser2535Thr)
c.7522T>A (p.Ser2508Thr)
n.6873T>A
c.7531T>A (p.Ser2511Thr)
c.7408T>A (p.Ser2470Thr)
n.1658T>A
c.5014T>A (p.Ser1672Thr)
c.7627T>A (p.Ser2543Thr)
c.5437T>A (p.Ser1813Thr)
c.5113T>A (p.Ser1705Thr)
11g.118503423T>CCA382805924KMT2Ac.7630T>C (p.Ser2544Pro)
c.7621T>C (p.Ser2541Pro)
c.1570T>C (p.Ser524Pro)
c.1828T>C (p.Ser610Pro)
c.7603T>C (p.Ser2535Pro)
c.7522T>C (p.Ser2508Pro)
n.6873T>C
c.7531T>C (p.Ser2511Pro)
c.7408T>C (p.Ser2470Pro)
n.1658T>C
c.5014T>C (p.Ser1672Pro)
c.7627T>C (p.Ser2543Pro)
c.5437T>C (p.Ser1813Pro)
c.5113T>C (p.Ser1705Pro)
11g.118503423T>GCA382805923KMT2Ac.7630T>G (p.Ser2544Ala)
c.7621T>G (p.Ser2541Ala)
c.1570T>G (p.Ser524Ala)
c.1828T>G (p.Ser610Ala)
c.7603T>G (p.Ser2535Ala)
c.7522T>G (p.Ser2508Ala)
n.6873T>G
c.7531T>G (p.Ser2511Ala)
c.7408T>G (p.Ser2470Ala)
n.1658T>G
c.5014T>G (p.Ser1672Ala)
c.7627T>G (p.Ser2543Ala)
c.5437T>G (p.Ser1813Ala)
c.5113T>G (p.Ser1705Ala)
11g.118503424C>ACA382805925KMT2Ac.7631C>A (p.Ser2544Tyr)
c.7622C>A (p.Ser2541Tyr)
c.1571C>A (p.Ser524Tyr)
c.1829C>A (p.Ser610Tyr)
c.7604C>A (p.Ser2535Tyr)
c.7523C>A (p.Ser2508Tyr)
n.6874C>A
c.7532C>A (p.Ser2511Tyr)
c.7409C>A (p.Ser2470Tyr)
n.1659C>A
c.5015C>A (p.Ser1672Tyr)
c.7628C>A (p.Ser2543Tyr)
c.5438C>A (p.Ser1813Tyr)
c.5114C>A (p.Ser1705Tyr)
 ClinVar dbSNP gnomAD v4
11g.118503424C=CA2003527862KMT2Ac.7631C= (p.Ser2544=)
c.7622C= (p.Ser2541=)
c.1571C= (p.Ser524=)
c.1829C= (p.Ser610=)
c.7604C= (p.Ser2535=)
c.7523C= (p.Ser2508=)
n.6874C=
c.7532C= (p.Ser2511=)
c.7409C= (p.Ser2470=)
n.1659C=
c.5015C= (p.Ser1672=)
c.7628C= (p.Ser2543=)
c.5438C= (p.Ser1813=)
c.5114C= (p.Ser1705=)
11g.118503424C>GCA382805927KMT2Ac.7631C>G (p.Ser2544Cys)
c.7622C>G (p.Ser2541Cys)
c.1571C>G (p.Ser524Cys)
c.1829C>G (p.Ser610Cys)
c.7604C>G (p.Ser2535Cys)
c.7523C>G (p.Ser2508Cys)
n.6874C>G
c.7532C>G (p.Ser2511Cys)
c.7409C>G (p.Ser2470Cys)
n.1659C>G
c.5015C>G (p.Ser1672Cys)
c.7628C>G (p.Ser2543Cys)
c.5438C>G (p.Ser1813Cys)
c.5114C>G (p.Ser1705Cys)
11g.118503424C>TCA382805928KMT2Ac.7631C>T (p.Ser2544Phe)
c.7622C>T (p.Ser2541Phe)
c.1571C>T (p.Ser524Phe)
c.1829C>T (p.Ser610Phe)
c.7604C>T (p.Ser2535Phe)
c.7523C>T (p.Ser2508Phe)
n.6874C>T
c.7532C>T (p.Ser2511Phe)
c.7409C>T (p.Ser2470Phe)
n.1659C>T
c.5015C>T (p.Ser1672Phe)
c.7628C>T (p.Ser2543Phe)
c.5438C>T (p.Ser1813Phe)
c.5114C>T (p.Ser1705Phe)
11g.118503425T>ACA477359646KMT2Ac.7632T>A (p.Ser2544=)
c.7623T>A (p.Ser2541=)
c.1572T>A (p.Ser524=)
c.1830T>A (p.Ser610=)
c.7605T>A (p.Ser2535=)
c.7524T>A (p.Ser2508=)
n.6875T>A
c.7533T>A (p.Ser2511=)
c.7410T>A (p.Ser2470=)
n.1660T>A
c.5016T>A (p.Ser1672=)
c.7629T>A (p.Ser2543=)
c.5439T>A (p.Ser1813=)
c.5115T>A (p.Ser1705=)
11g.118503425T>CCA477359644KMT2Ac.7632T>C (p.Ser2544=)
c.7623T>C (p.Ser2541=)
c.1572T>C (p.Ser524=)
c.1830T>C (p.Ser610=)
c.7605T>C (p.Ser2535=)
c.7524T>C (p.Ser2508=)
n.6875T>C
c.7533T>C (p.Ser2511=)
c.7410T>C (p.Ser2470=)
n.1660T>C
c.5016T>C (p.Ser1672=)
c.7629T>C (p.Ser2543=)
c.5439T>C (p.Ser1813=)
c.5115T>C (p.Ser1705=)
11g.118503425T>GCA477359645KMT2Ac.7632T>G (p.Ser2544=)
c.7623T>G (p.Ser2541=)
c.1572T>G (p.Ser524=)
c.1830T>G (p.Ser610=)
c.7605T>G (p.Ser2535=)
c.7524T>G (p.Ser2508=)
n.6875T>G
c.7533T>G (p.Ser2511=)
c.7410T>G (p.Ser2470=)
n.1660T>G
c.5016T>G (p.Ser1672=)
c.7629T>G (p.Ser2543=)
c.5439T>G (p.Ser1813=)
c.5115T>G (p.Ser1705=)
11g.118503426G>ACA382805930KMT2Ac.7633G>A (p.Ala2545Thr)
c.7624G>A (p.Ala2542Thr)
c.1573G>A (p.Ala525Thr)
c.1831G>A (p.Ala611Thr)
c.7606G>A (p.Ala2536Thr)
c.7525G>A (p.Ala2509Thr)
n.6876G>A
c.7534G>A (p.Ala2512Thr)
c.7411G>A (p.Ala2471Thr)
n.1661G>A
c.5017G>A (p.Ala1673Thr)
c.7630G>A (p.Ala2544Thr)
c.5440G>A (p.Ala1814Thr)
c.5116G>A (p.Ala1706Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118503426G>CCA382805932KMT2Ac.7633G>C (p.Ala2545Pro)
c.7624G>C (p.Ala2542Pro)
c.1573G>C (p.Ala525Pro)
c.1831G>C (p.Ala611Pro)
c.7606G>C (p.Ala2536Pro)
c.7525G>C (p.Ala2509Pro)
n.6876G>C
c.7534G>C (p.Ala2512Pro)
c.7411G>C (p.Ala2471Pro)
n.1661G>C
c.5017G>C (p.Ala1673Pro)
c.7630G>C (p.Ala2544Pro)
c.5440G>C (p.Ala1814Pro)
c.5116G>C (p.Ala1706Pro)
 dbSNP gnomAD v2
11g.118503426G=CA2003527865KMT2Ac.7633G= (p.Ala2545=)
c.7624G= (p.Ala2542=)
c.1573G= (p.Ala525=)
c.1831G= (p.Ala611=)
c.7606G= (p.Ala2536=)
c.7525G= (p.Ala2509=)
n.6876G=
c.7534G= (p.Ala2512=)
c.7411G= (p.Ala2471=)
n.1661G=
c.5017G= (p.Ala1673=)
c.7630G= (p.Ala2544=)
c.5440G= (p.Ala1814=)
c.5116G= (p.Ala1706=)
11g.118503426G>TCA382805934KMT2Ac.7633G>T (p.Ala2545Ser)
c.7624G>T (p.Ala2542Ser)
c.1573G>T (p.Ala525Ser)
c.1831G>T (p.Ala611Ser)
c.7606G>T (p.Ala2536Ser)
c.7525G>T (p.Ala2509Ser)
n.6876G>T
c.7534G>T (p.Ala2512Ser)
c.7411G>T (p.Ala2471Ser)
n.1661G>T
c.5017G>T (p.Ala1673Ser)
c.7630G>T (p.Ala2544Ser)
c.5440G>T (p.Ala1814Ser)
c.5116G>T (p.Ala1706Ser)
 dbSNP
11g.118503427C>ACA382805936KMT2Ac.7634C>A (p.Ala2545Asp)
c.7625C>A (p.Ala2542Asp)
c.1574C>A (p.Ala525Asp)
c.1832C>A (p.Ala611Asp)
c.7607C>A (p.Ala2536Asp)
c.7526C>A (p.Ala2509Asp)
n.6877C>A
c.7535C>A (p.Ala2512Asp)
c.7412C>A (p.Ala2471Asp)
n.1662C>A
c.5018C>A (p.Ala1673Asp)
c.7631C>A (p.Ala2544Asp)
c.5441C>A (p.Ala1814Asp)
c.5117C>A (p.Ala1706Asp)
 dbSNP
11g.118503427C=CA2003527871KMT2Ac.7634C= (p.Ala2545=)
c.7625C= (p.Ala2542=)
c.1574C= (p.Ala525=)
c.1832C= (p.Ala611=)
c.7607C= (p.Ala2536=)
c.7526C= (p.Ala2509=)
n.6877C=
c.7535C= (p.Ala2512=)
c.7412C= (p.Ala2471=)
n.1662C=
c.5018C= (p.Ala1673=)
c.7631C= (p.Ala2544=)
c.5441C= (p.Ala1814=)
c.5117C= (p.Ala1706=)
11g.118503427C>GCA382805937KMT2Ac.7634C>G (p.Ala2545Gly)
c.7625C>G (p.Ala2542Gly)
c.1574C>G (p.Ala525Gly)
c.1832C>G (p.Ala611Gly)
c.7607C>G (p.Ala2536Gly)
c.7526C>G (p.Ala2509Gly)
n.6877C>G
c.7535C>G (p.Ala2512Gly)
c.7412C>G (p.Ala2471Gly)
n.1662C>G
c.5018C>G (p.Ala1673Gly)
c.7631C>G (p.Ala2544Gly)
c.5441C>G (p.Ala1814Gly)
c.5117C>G (p.Ala1706Gly)
11g.118503427C>TCA6304408KMT2Ac.7634C>T (p.Ala2545Val)
c.7625C>T (p.Ala2542Val)
c.1574C>T (p.Ala525Val)
c.1832C>T (p.Ala611Val)
c.7607C>T (p.Ala2536Val)
c.7526C>T (p.Ala2509Val)
n.6877C>T
c.7535C>T (p.Ala2512Val)
c.7412C>T (p.Ala2471Val)
n.1662C>T
c.5018C>T (p.Ala1673Val)
c.7631C>T (p.Ala2544Val)
c.5441C>T (p.Ala1814Val)
c.5117C>T (p.Ala1706Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503428C>ACA477359649KMT2Ac.7635C>A (p.Ala2545=)
c.7626C>A (p.Ala2542=)
c.1575C>A (p.Ala525=)
c.1833C>A (p.Ala611=)
c.7608C>A (p.Ala2536=)
c.7527C>A (p.Ala2509=)
n.6878C>A
c.7536C>A (p.Ala2512=)
c.7413C>A (p.Ala2471=)
n.1663C>A
c.5019C>A (p.Ala1673=)
c.7632C>A (p.Ala2544=)
c.5442C>A (p.Ala1814=)
c.5118C>A (p.Ala1706=)
11g.118503428C=CA2003527873KMT2Ac.7635C= (p.Ala2545=)
c.7626C= (p.Ala2542=)
c.1575C= (p.Ala525=)
c.1833C= (p.Ala611=)
c.7608C= (p.Ala2536=)
c.7527C= (p.Ala2509=)
n.6878C=
c.7536C= (p.Ala2512=)
c.7413C= (p.Ala2471=)
n.1663C=
c.5019C= (p.Ala1673=)
c.7632C= (p.Ala2544=)
c.5442C= (p.Ala1814=)
c.5118C= (p.Ala1706=)
11g.118503428C>GCA477359651KMT2Ac.7635C>G (p.Ala2545=)
c.7626C>G (p.Ala2542=)
c.1575C>G (p.Ala525=)
c.1833C>G (p.Ala611=)
c.7608C>G (p.Ala2536=)
c.7527C>G (p.Ala2509=)
n.6878C>G
c.7536C>G (p.Ala2512=)
c.7413C>G (p.Ala2471=)
n.1663C>G
c.5019C>G (p.Ala1673=)
c.7632C>G (p.Ala2544=)
c.5442C>G (p.Ala1814=)
c.5118C>G (p.Ala1706=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118503428C>TCA477359654KMT2Ac.7635C>T (p.Ala2545=)
c.7626C>T (p.Ala2542=)
c.1575C>T (p.Ala525=)
c.1833C>T (p.Ala611=)
c.7608C>T (p.Ala2536=)
c.7527C>T (p.Ala2509=)
n.6878C>T
c.7536C>T (p.Ala2512=)
c.7413C>T (p.Ala2471=)
n.1663C>T
c.5019C>T (p.Ala1673=)
c.7632C>T (p.Ala2544=)
c.5442C>T (p.Ala1814=)
c.5118C>T (p.Ala1706=)
11g.118503429A>CCA382805940KMT2Ac.7636A>C (p.Lys2546Gln)
c.7627A>C (p.Lys2543Gln)
c.1576A>C (p.Lys526Gln)
c.1834A>C (p.Lys612Gln)
c.7609A>C (p.Lys2537Gln)
c.7528A>C (p.Lys2510Gln)
n.6879A>C
c.7537A>C (p.Lys2513Gln)
c.7414A>C (p.Lys2472Gln)
n.1664A>C
c.5020A>C (p.Lys1674Gln)
c.7633A>C (p.Lys2545Gln)
c.5443A>C (p.Lys1815Gln)
c.5119A>C (p.Lys1707Gln)
11g.118503429A>GCA382805942KMT2Ac.7636A>G (p.Lys2546Glu)
c.7627A>G (p.Lys2543Glu)
c.1576A>G (p.Lys526Glu)
c.1834A>G (p.Lys612Glu)
c.7609A>G (p.Lys2537Glu)
c.7528A>G (p.Lys2510Glu)
n.6879A>G
c.7537A>G (p.Lys2513Glu)
c.7414A>G (p.Lys2472Glu)
n.1664A>G
c.5020A>G (p.Lys1674Glu)
c.7633A>G (p.Lys2545Glu)
c.5443A>G (p.Lys1815Glu)
c.5119A>G (p.Lys1707Glu)
11g.118503429A>TCA382805943KMT2Ac.7636A>T (p.Lys2546Ter)
c.7627A>T (p.Lys2543Ter)
c.1576A>T (p.Lys526Ter)
c.1834A>T (p.Lys612Ter)
c.7609A>T (p.Lys2537Ter)
c.7528A>T (p.Lys2510Ter)
n.6879A>T
c.7537A>T (p.Lys2513Ter)
c.7414A>T (p.Lys2472Ter)
n.1664A>T
c.5020A>T (p.Lys1674Ter)
c.7633A>T (p.Lys2545Ter)
c.5443A>T (p.Lys1815Ter)
c.5119A>T (p.Lys1707Ter)
11g.118503430A=CA2003527876KMT2Ac.7637A= (p.Lys2546=)
c.7628A= (p.Lys2543=)
c.1577A= (p.Lys526=)
c.1835A= (p.Lys612=)
c.7610A= (p.Lys2537=)
c.7529A= (p.Lys2510=)
n.6880A=
c.7538A= (p.Lys2513=)
c.7415A= (p.Lys2472=)
n.1665A=
c.5021A= (p.Lys1674=)
c.7634A= (p.Lys2545=)
c.5444A= (p.Lys1815=)
c.5120A= (p.Lys1707=)
11g.118503430A>CCA382805945KMT2Ac.7637A>C (p.Lys2546Thr)
c.7628A>C (p.Lys2543Thr)
c.1577A>C (p.Lys526Thr)
c.1835A>C (p.Lys612Thr)
c.7610A>C (p.Lys2537Thr)
c.7529A>C (p.Lys2510Thr)
n.6880A>C
c.7538A>C (p.Lys2513Thr)
c.7415A>C (p.Lys2472Thr)
n.1665A>C
c.5021A>C (p.Lys1674Thr)
c.7634A>C (p.Lys2545Thr)
c.5444A>C (p.Lys1815Thr)
c.5120A>C (p.Lys1707Thr)
 gnomAD v4
11g.118503430A>GCA382805949KMT2Ac.7637A>G (p.Lys2546Arg)
c.7628A>G (p.Lys2543Arg)
c.1577A>G (p.Lys526Arg)
c.1835A>G (p.Lys612Arg)
c.7610A>G (p.Lys2537Arg)
c.7529A>G (p.Lys2510Arg)
n.6880A>G
c.7538A>G (p.Lys2513Arg)
c.7415A>G (p.Lys2472Arg)
n.1665A>G
c.5021A>G (p.Lys1674Arg)
c.7634A>G (p.Lys2545Arg)
c.5444A>G (p.Lys1815Arg)
c.5120A>G (p.Lys1707Arg)
 dbSNP
11g.118503430A>TCA382805947KMT2Ac.7637A>T (p.Lys2546Met)
c.7628A>T (p.Lys2543Met)
c.1577A>T (p.Lys526Met)
c.1835A>T (p.Lys612Met)
c.7610A>T (p.Lys2537Met)
c.7529A>T (p.Lys2510Met)
n.6880A>T
c.7538A>T (p.Lys2513Met)
c.7415A>T (p.Lys2472Met)
n.1665A>T
c.5021A>T (p.Lys1674Met)
c.7634A>T (p.Lys2545Met)
c.5444A>T (p.Lys1815Met)
c.5120A>T (p.Lys1707Met)
11g.118503431G>ACA477359657KMT2Ac.7638G>A (p.Lys2546=)
c.7629G>A (p.Lys2543=)
c.1578G>A (p.Lys526=)
c.1836G>A (p.Lys612=)
c.7611G>A (p.Lys2537=)
c.7530G>A (p.Lys2510=)
n.6881G>A
c.7539G>A (p.Lys2513=)
c.7416G>A (p.Lys2472=)
n.1666G>A
c.5022G>A (p.Lys1674=)
c.7635G>A (p.Lys2545=)
c.5445G>A (p.Lys1815=)
c.5121G>A (p.Lys1707=)
11g.118503431G>CCA382805950KMT2Ac.7638G>C (p.Lys2546Asn)
c.7629G>C (p.Lys2543Asn)
c.1578G>C (p.Lys526Asn)
c.1836G>C (p.Lys612Asn)
c.7611G>C (p.Lys2537Asn)
c.7530G>C (p.Lys2510Asn)
n.6881G>C
c.7539G>C (p.Lys2513Asn)
c.7416G>C (p.Lys2472Asn)
n.1666G>C
c.5022G>C (p.Lys1674Asn)
c.7635G>C (p.Lys2545Asn)
c.5445G>C (p.Lys1815Asn)
c.5121G>C (p.Lys1707Asn)
11g.118503431G>TCA382805952KMT2Ac.7638G>T (p.Lys2546Asn)
c.7629G>T (p.Lys2543Asn)
c.1578G>T (p.Lys526Asn)
c.1836G>T (p.Lys612Asn)
c.7611G>T (p.Lys2537Asn)
c.7530G>T (p.Lys2510Asn)
n.6881G>T
c.7539G>T (p.Lys2513Asn)
c.7416G>T (p.Lys2472Asn)
n.1666G>T
c.5022G>T (p.Lys1674Asn)
c.7635G>T (p.Lys2545Asn)
c.5445G>T (p.Lys1815Asn)
c.5121G>T (p.Lys1707Asn)
11g.118503432G>ACA6304409KMT2Ac.7639G>A (p.Glu2547Lys)
c.7630G>A (p.Glu2544Lys)
c.1579G>A (p.Glu527Lys)
c.1837G>A (p.Glu613Lys)
c.7612G>A (p.Glu2538Lys)
c.7531G>A (p.Glu2511Lys)
n.6882G>A
c.7540G>A (p.Glu2514Lys)
c.7417G>A (p.Glu2473Lys)
n.1667G>A
c.5023G>A (p.Glu1675Lys)
c.7636G>A (p.Glu2546Lys)
c.5446G>A (p.Glu1816Lys)
c.5122G>A (p.Glu1708Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503432G>CCA382805955KMT2Ac.7639G>C (p.Glu2547Gln)
c.7630G>C (p.Glu2544Gln)
c.1579G>C (p.Glu527Gln)
c.1837G>C (p.Glu613Gln)
c.7612G>C (p.Glu2538Gln)
c.7531G>C (p.Glu2511Gln)
n.6882G>C
c.7540G>C (p.Glu2514Gln)
c.7417G>C (p.Glu2473Gln)
n.1667G>C
c.5023G>C (p.Glu1675Gln)
c.7636G>C (p.Glu2546Gln)
c.5446G>C (p.Glu1816Gln)
c.5122G>C (p.Glu1708Gln)
11g.118503432G=CA2003527879KMT2Ac.7639G= (p.Glu2547=)
c.7630G= (p.Glu2544=)
c.1579G= (p.Glu527=)
c.1837G= (p.Glu613=)
c.7612G= (p.Glu2538=)
c.7531G= (p.Glu2511=)
n.6882G=
c.7540G= (p.Glu2514=)
c.7417G= (p.Glu2473=)
n.1667G=
c.5023G= (p.Glu1675=)
c.7636G= (p.Glu2546=)
c.5446G= (p.Glu1816=)
c.5122G= (p.Glu1708=)
11g.118503432G>TCA382805956KMT2Ac.7639G>T (p.Glu2547Ter)
c.7630G>T (p.Glu2544Ter)
c.1579G>T (p.Glu527Ter)
c.1837G>T (p.Glu613Ter)
c.7612G>T (p.Glu2538Ter)
c.7531G>T (p.Glu2511Ter)
n.6882G>T
c.7540G>T (p.Glu2514Ter)
c.7417G>T (p.Glu2473Ter)
n.1667G>T
c.5023G>T (p.Glu1675Ter)
c.7636G>T (p.Glu2546Ter)
c.5446G>T (p.Glu1816Ter)
c.5122G>T (p.Glu1708Ter)
11g.118503433A>CCA382805958KMT2Ac.7640A>C (p.Glu2547Ala)
c.7631A>C (p.Glu2544Ala)
c.1580A>C (p.Glu527Ala)
c.1838A>C (p.Glu613Ala)
c.7613A>C (p.Glu2538Ala)
c.7532A>C (p.Glu2511Ala)
n.6883A>C
c.7541A>C (p.Glu2514Ala)
c.7418A>C (p.Glu2473Ala)
n.1668A>C
c.5024A>C (p.Glu1675Ala)
c.7637A>C (p.Glu2546Ala)
c.5447A>C (p.Glu1816Ala)
c.5123A>C (p.Glu1708Ala)
11g.118503433A>GCA382805960KMT2Ac.7640A>G (p.Glu2547Gly)
c.7631A>G (p.Glu2544Gly)
c.1580A>G (p.Glu527Gly)
c.1838A>G (p.Glu613Gly)
c.7613A>G (p.Glu2538Gly)
c.7532A>G (p.Glu2511Gly)
n.6883A>G
c.7541A>G (p.Glu2514Gly)
c.7418A>G (p.Glu2473Gly)
n.1668A>G
c.5024A>G (p.Glu1675Gly)
c.7637A>G (p.Glu2546Gly)
c.5447A>G (p.Glu1816Gly)
c.5123A>G (p.Glu1708Gly)
11g.118503433A>TCA382805962KMT2Ac.7640A>T (p.Glu2547Val)
c.7631A>T (p.Glu2544Val)
c.1580A>T (p.Glu527Val)
c.1838A>T (p.Glu613Val)
c.7613A>T (p.Glu2538Val)
c.7532A>T (p.Glu2511Val)
n.6883A>T
c.7541A>T (p.Glu2514Val)
c.7418A>T (p.Glu2473Val)
n.1668A>T
c.5024A>T (p.Glu1675Val)
c.7637A>T (p.Glu2546Val)
c.5447A>T (p.Glu1816Val)
c.5123A>T (p.Glu1708Val)
11g.118503434A>CCA382805963KMT2Ac.7641A>C (p.Glu2547Asp)
c.7632A>C (p.Glu2544Asp)
c.1581A>C (p.Glu527Asp)
c.1839A>C (p.Glu613Asp)
c.7614A>C (p.Glu2538Asp)
c.7533A>C (p.Glu2511Asp)
n.6884A>C
c.7542A>C (p.Glu2514Asp)
c.7419A>C (p.Glu2473Asp)
n.1669A>C
c.5025A>C (p.Glu1675Asp)
c.7638A>C (p.Glu2546Asp)
c.5448A>C (p.Glu1816Asp)
c.5124A>C (p.Glu1708Asp)
11g.118503434A>GCA477359665KMT2Ac.7641A>G (p.Glu2547=)
c.7632A>G (p.Glu2544=)
c.1581A>G (p.Glu527=)
c.1839A>G (p.Glu613=)
c.7614A>G (p.Glu2538=)
c.7533A>G (p.Glu2511=)
n.6884A>G
c.7542A>G (p.Glu2514=)
c.7419A>G (p.Glu2473=)
n.1669A>G
c.5025A>G (p.Glu1675=)
c.7638A>G (p.Glu2546=)
c.5448A>G (p.Glu1816=)
c.5124A>G (p.Glu1708=)
 gnomAD v4
11g.118503434A>TCA382805965KMT2Ac.7641A>T (p.Glu2547Asp)
c.7632A>T (p.Glu2544Asp)
c.1581A>T (p.Glu527Asp)
c.1839A>T (p.Glu613Asp)
c.7614A>T (p.Glu2538Asp)
c.7533A>T (p.Glu2511Asp)
n.6884A>T
c.7542A>T (p.Glu2514Asp)
c.7419A>T (p.Glu2473Asp)
n.1669A>T
c.5025A>T (p.Glu1675Asp)
c.7638A>T (p.Glu2546Asp)
c.5448A>T (p.Glu1816Asp)
c.5124A>T (p.Glu1708Asp)
11g.118503435T>ACA382805967KMT2Ac.7642T>A (p.Leu2548Ile)
c.7633T>A (p.Leu2545Ile)
c.1582T>A (p.Leu528Ile)
c.1840T>A (p.Leu614Ile)
c.7615T>A (p.Leu2539Ile)
c.7534T>A (p.Leu2512Ile)
n.6885T>A
c.7543T>A (p.Leu2515Ile)
c.7420T>A (p.Leu2474Ile)
n.1670T>A
c.5026T>A (p.Leu1676Ile)
c.7639T>A (p.Leu2547Ile)
c.5449T>A (p.Leu1817Ile)
c.5125T>A (p.Leu1709Ile)
11g.118503435T>CCA477359668KMT2Ac.7642T>C (p.Leu2548=)
c.7633T>C (p.Leu2545=)
c.1582T>C (p.Leu528=)
c.1840T>C (p.Leu614=)
c.7615T>C (p.Leu2539=)
c.7534T>C (p.Leu2512=)
n.6885T>C
c.7543T>C (p.Leu2515=)
c.7420T>C (p.Leu2474=)
n.1670T>C
c.5026T>C (p.Leu1676=)
c.7639T>C (p.Leu2547=)
c.5449T>C (p.Leu1817=)
c.5125T>C (p.Leu1709=)
 gnomAD v4
11g.118503435T>GCA382805969KMT2Ac.7642T>G (p.Leu2548Val)
c.7633T>G (p.Leu2545Val)
c.1582T>G (p.Leu528Val)
c.1840T>G (p.Leu614Val)
c.7615T>G (p.Leu2539Val)
c.7534T>G (p.Leu2512Val)
n.6885T>G
c.7543T>G (p.Leu2515Val)
c.7420T>G (p.Leu2474Val)
n.1670T>G
c.5026T>G (p.Leu1676Val)
c.7639T>G (p.Leu2547Val)
c.5449T>G (p.Leu1817Val)
c.5125T>G (p.Leu1709Val)
11g.118503436T>ACA382805972KMT2Ac.7643T>A (p.Leu2548Ter)
c.7634T>A (p.Leu2545Ter)
c.1583T>A (p.Leu528Ter)
c.1841T>A (p.Leu614Ter)
c.7616T>A (p.Leu2539Ter)
c.7535T>A (p.Leu2512Ter)
n.6886T>A
c.7544T>A (p.Leu2515Ter)
c.7421T>A (p.Leu2474Ter)
n.1671T>A
c.5027T>A (p.Leu1676Ter)
c.7640T>A (p.Leu2547Ter)
c.5450T>A (p.Leu1817Ter)
c.5126T>A (p.Leu1709Ter)
11g.118503436T>CCA382805974KMT2Ac.7643T>C (p.Leu2548Ser)
c.7634T>C (p.Leu2545Ser)
c.1583T>C (p.Leu528Ser)
c.1841T>C (p.Leu614Ser)
c.7616T>C (p.Leu2539Ser)
c.7535T>C (p.Leu2512Ser)
n.6886T>C
c.7544T>C (p.Leu2515Ser)
c.7421T>C (p.Leu2474Ser)
n.1671T>C
c.5027T>C (p.Leu1676Ser)
c.7640T>C (p.Leu2547Ser)
c.5450T>C (p.Leu1817Ser)
c.5126T>C (p.Leu1709Ser)
11g.118503436T>GCA382805970KMT2Ac.7643T>G (p.Leu2548Ter)
c.7634T>G (p.Leu2545Ter)
c.1583T>G (p.Leu528Ter)
c.1841T>G (p.Leu614Ter)
c.7616T>G (p.Leu2539Ter)
c.7535T>G (p.Leu2512Ter)
n.6886T>G
c.7544T>G (p.Leu2515Ter)
c.7421T>G (p.Leu2474Ter)
n.1671T>G
c.5027T>G (p.Leu1676Ter)
c.7640T>G (p.Leu2547Ter)
c.5450T>G (p.Leu1817Ter)
c.5126T>G (p.Leu1709Ter)
11g.118503437A>CCA382805976KMT2Ac.7644A>C (p.Leu2548Phe)
c.7635A>C (p.Leu2545Phe)
c.1584A>C (p.Leu528Phe)
c.1842A>C (p.Leu614Phe)
c.7617A>C (p.Leu2539Phe)
c.7536A>C (p.Leu2512Phe)
n.6887A>C
c.7545A>C (p.Leu2515Phe)
c.7422A>C (p.Leu2474Phe)
n.1672A>C
c.5028A>C (p.Leu1676Phe)
c.7641A>C (p.Leu2547Phe)
c.5451A>C (p.Leu1817Phe)
c.5127A>C (p.Leu1709Phe)
11g.118503437A>GCA477359672KMT2Ac.7644A>G (p.Leu2548=)
c.7635A>G (p.Leu2545=)
c.1584A>G (p.Leu528=)
c.1842A>G (p.Leu614=)
c.7617A>G (p.Leu2539=)
c.7536A>G (p.Leu2512=)
n.6887A>G
c.7545A>G (p.Leu2515=)
c.7422A>G (p.Leu2474=)
n.1672A>G
c.5028A>G (p.Leu1676=)
c.7641A>G (p.Leu2547=)
c.5451A>G (p.Leu1817=)
c.5127A>G (p.Leu1709=)
11g.118503437A>TCA382805977KMT2Ac.7644A>T (p.Leu2548Phe)
c.7635A>T (p.Leu2545Phe)
c.1584A>T (p.Leu528Phe)
c.1842A>T (p.Leu614Phe)
c.7617A>T (p.Leu2539Phe)
c.7536A>T (p.Leu2512Phe)
n.6887A>T
c.7545A>T (p.Leu2515Phe)
c.7422A>T (p.Leu2474Phe)
n.1672A>T
c.5028A>T (p.Leu1676Phe)
c.7641A>T (p.Leu2547Phe)
c.5451A>T (p.Leu1817Phe)
c.5127A>T (p.Leu1709Phe)
11g.118503438C>ACA382805979KMT2Ac.7645C>A (p.Gln2549Lys)
c.7636C>A (p.Gln2546Lys)
c.1585C>A (p.Gln529Lys)
c.1843C>A (p.Gln615Lys)
c.7618C>A (p.Gln2540Lys)
c.7537C>A (p.Gln2513Lys)
n.6888C>A
c.7546C>A (p.Gln2516Lys)
c.7423C>A (p.Gln2475Lys)
n.1673C>A
c.5029C>A (p.Gln1677Lys)
c.7642C>A (p.Gln2548Lys)
c.5452C>A (p.Gln1818Lys)
c.5128C>A (p.Gln1710Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.118503438C=CA2003527882KMT2Ac.7645C= (p.Gln2549=)
c.7636C= (p.Gln2546=)
c.1585C= (p.Gln529=)
c.1843C= (p.Gln615=)
c.7618C= (p.Gln2540=)
c.7537C= (p.Gln2513=)
n.6888C=
c.7546C= (p.Gln2516=)
c.7423C= (p.Gln2475=)
n.1673C=
c.5029C= (p.Gln1677=)
c.7642C= (p.Gln2548=)
c.5452C= (p.Gln1818=)
c.5128C= (p.Gln1710=)
11g.118503438C>GCA6304410KMT2Ac.7645C>G (p.Gln2549Glu)
c.7636C>G (p.Gln2546Glu)
c.1585C>G (p.Gln529Glu)
c.1843C>G (p.Gln615Glu)
c.7618C>G (p.Gln2540Glu)
c.7537C>G (p.Gln2513Glu)
n.6888C>G
c.7546C>G (p.Gln2516Glu)
c.7423C>G (p.Gln2475Glu)
n.1673C>G
c.5029C>G (p.Gln1677Glu)
c.7642C>G (p.Gln2548Glu)
c.5452C>G (p.Gln1818Glu)
c.5128C>G (p.Gln1710Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503438C>TCA382805981KMT2Ac.7645C>T (p.Gln2549Ter)
c.7636C>T (p.Gln2546Ter)
c.1585C>T (p.Gln529Ter)
c.1843C>T (p.Gln615Ter)
c.7618C>T (p.Gln2540Ter)
c.7537C>T (p.Gln2513Ter)
n.6888C>T
c.7546C>T (p.Gln2516Ter)
c.7423C>T (p.Gln2475Ter)
n.1673C>T
c.5029C>T (p.Gln1677Ter)
c.7642C>T (p.Gln2548Ter)
c.5452C>T (p.Gln1818Ter)
c.5128C>T (p.Gln1710Ter)
 dbSNP
11g.118503439A>CCA382805987KMT2Ac.7646A>C (p.Gln2549Pro)
c.7637A>C (p.Gln2546Pro)
c.1586A>C (p.Gln529Pro)
c.1844A>C (p.Gln615Pro)
c.7619A>C (p.Gln2540Pro)
c.7538A>C (p.Gln2513Pro)
n.6889A>C
c.7547A>C (p.Gln2516Pro)
c.7424A>C (p.Gln2475Pro)
n.1674A>C
c.5030A>C (p.Gln1677Pro)
c.7643A>C (p.Gln2548Pro)
c.5453A>C (p.Gln1818Pro)
c.5129A>C (p.Gln1710Pro)
11g.118503439A>GCA382805984KMT2Ac.7646A>G (p.Gln2549Arg)
c.7637A>G (p.Gln2546Arg)
c.1586A>G (p.Gln529Arg)
c.1844A>G (p.Gln615Arg)
c.7619A>G (p.Gln2540Arg)
c.7538A>G (p.Gln2513Arg)
n.6889A>G
c.7547A>G (p.Gln2516Arg)
c.7424A>G (p.Gln2475Arg)
n.1674A>G
c.5030A>G (p.Gln1677Arg)
c.7643A>G (p.Gln2548Arg)
c.5453A>G (p.Gln1818Arg)
c.5129A>G (p.Gln1710Arg)
 dbSNP
11g.118503439A>TCA382805985KMT2Ac.7646A>T (p.Gln2549Leu)
c.7637A>T (p.Gln2546Leu)
c.1586A>T (p.Gln529Leu)
c.1844A>T (p.Gln615Leu)
c.7619A>T (p.Gln2540Leu)
c.7538A>T (p.Gln2513Leu)
n.6889A>T
c.7547A>T (p.Gln2516Leu)
c.7424A>T (p.Gln2475Leu)
n.1674A>T
c.5030A>T (p.Gln1677Leu)
c.7643A>T (p.Gln2548Leu)
c.5453A>T (p.Gln1818Leu)
c.5129A>T (p.Gln1710Leu)
11g.118503440G>ACA477359677KMT2Ac.7647G>A (p.Gln2549=)
c.7638G>A (p.Gln2546=)
c.1587G>A (p.Gln529=)
c.1845G>A (p.Gln615=)
c.7620G>A (p.Gln2540=)
c.7539G>A (p.Gln2513=)
n.6890G>A
c.7548G>A (p.Gln2516=)
c.7425G>A (p.Gln2475=)
n.1675G>A
c.5031G>A (p.Gln1677=)
c.7644G>A (p.Gln2548=)
c.5454G>A (p.Gln1818=)
c.5130G>A (p.Gln1710=)
 dbSNP
11g.118503440G>CCA382805988KMT2Ac.7647G>C (p.Gln2549His)
c.7638G>C (p.Gln2546His)
c.1587G>C (p.Gln529His)
c.1845G>C (p.Gln615His)
c.7620G>C (p.Gln2540His)
c.7539G>C (p.Gln2513His)
n.6890G>C
c.7548G>C (p.Gln2516His)
c.7425G>C (p.Gln2475His)
n.1675G>C
c.5031G>C (p.Gln1677His)
c.7644G>C (p.Gln2548His)
c.5454G>C (p.Gln1818His)
c.5130G>C (p.Gln1710His)
 dbSNP
11g.118503440G=CA2003527887KMT2Ac.7647G= (p.Gln2549=)
c.7638G= (p.Gln2546=)
c.1587G= (p.Gln529=)
c.1845G= (p.Gln615=)
c.7620G= (p.Gln2540=)
c.7539G= (p.Gln2513=)
n.6890G=
c.7548G= (p.Gln2516=)
c.7425G= (p.Gln2475=)
n.1675G=
c.5031G= (p.Gln1677=)
c.7644G= (p.Gln2548=)
c.5454G= (p.Gln1818=)
c.5130G= (p.Gln1710=)
11g.118503440G>TCA382805989KMT2Ac.7647G>T (p.Gln2549His)
c.7638G>T (p.Gln2546His)
c.1587G>T (p.Gln529His)
c.1845G>T (p.Gln615His)
c.7620G>T (p.Gln2540His)
c.7539G>T (p.Gln2513His)
n.6890G>T
c.7548G>T (p.Gln2516His)
c.7425G>T (p.Gln2475His)
n.1675G>T
c.5031G>T (p.Gln1677His)
c.7644G>T (p.Gln2548His)
c.5454G>T (p.Gln1818His)
c.5130G>T (p.Gln1710His)
 dbSNP
11g.118503441G>ACA382805992KMT2Ac.7648G>A (p.Ala2550Thr)
c.7639G>A (p.Ala2547Thr)
c.1588G>A (p.Ala530Thr)
c.1846G>A (p.Ala616Thr)
c.7621G>A (p.Ala2541Thr)
c.7540G>A (p.Ala2514Thr)
n.6891G>A
c.7549G>A (p.Ala2517Thr)
c.7426G>A (p.Ala2476Thr)
n.1676G>A
c.5032G>A (p.Ala1678Thr)
c.7645G>A (p.Ala2549Thr)
c.5455G>A (p.Ala1819Thr)
c.5131G>A (p.Ala1711Thr)
 ClinVar dbSNP
11g.118503441G>CCA382805993KMT2Ac.7648G>C (p.Ala2550Pro)
c.7639G>C (p.Ala2547Pro)
c.1588G>C (p.Ala530Pro)
c.1846G>C (p.Ala616Pro)
c.7621G>C (p.Ala2541Pro)
c.7540G>C (p.Ala2514Pro)
n.6891G>C
c.7549G>C (p.Ala2517Pro)
c.7426G>C (p.Ala2476Pro)
n.1676G>C
c.5032G>C (p.Ala1678Pro)
c.7645G>C (p.Ala2549Pro)
c.5455G>C (p.Ala1819Pro)
c.5131G>C (p.Ala1711Pro)
11g.118503441G>TCA382805995KMT2Ac.7648G>T (p.Ala2550Ser)
c.7639G>T (p.Ala2547Ser)
c.1588G>T (p.Ala530Ser)
c.1846G>T (p.Ala616Ser)
c.7621G>T (p.Ala2541Ser)
c.7540G>T (p.Ala2514Ser)
n.6891G>T
c.7549G>T (p.Ala2517Ser)
c.7426G>T (p.Ala2476Ser)
n.1676G>T
c.5032G>T (p.Ala1678Ser)
c.7645G>T (p.Ala2549Ser)
c.5455G>T (p.Ala1819Ser)
c.5131G>T (p.Ala1711Ser)
11g.118503445_118503457delCA2582342478KMT2Ac.7652_7664del (p.Pro2551GlnfsTer4)
c.7643_7655del (p.Pro2548GlnfsTer4)
c.1592_1604del (p.Pro531GlnfsTer4)
c.1850_1862del (p.Pro617GlnfsTer4)
c.7625_7637del (p.Pro2542GlnfsTer4)
c.7544_7556del (p.Pro2515GlnfsTer4)
n.6895_6907del
c.7553_7565del (p.Pro2518GlnfsTer4)
c.7430_7442del (p.Pro2477GlnfsTer4)
n.1680_1692del
c.5036_5048del (p.Pro1679GlnfsTer4)
c.7649_7661del (p.Pro2550GlnfsTer4)
c.5459_5471del (p.Pro1820GlnfsTer4)
c.5135_5147del (p.Pro1712GlnfsTer4)
 ClinVar
11g.118503441_118503442insATTTTTTCCCA2533495170KMT2Ac.7648_7649insATTTTTTCC (p.Ala2550delinsAspPhePhePro)
c.7639_7640insATTTTTTCC (p.Ala2547delinsAspPhePhePro)
c.1588_1589insATTTTTTCC (p.Ala530delinsAspPhePhePro)
c.1846_1847insATTTTTTCC (p.Ala616delinsAspPhePhePro)
c.7621_7622insATTTTTTCC (p.Ala2541delinsAspPhePhePro)
c.7540_7541insATTTTTTCC (p.Ala2514delinsAspPhePhePro)
n.6891_6892insATTTTTTCC
c.7549_7550insATTTTTTCC (p.Ala2517delinsAspPhePhePro)
c.7426_7427insATTTTTTCC (p.Ala2476delinsAspPhePhePro)
n.1676_1677insATTTTTTCC
c.5032_5033insATTTTTTCC (p.Ala1678delinsAspPhePhePro)
c.7645_7646insATTTTTTCC (p.Ala2549delinsAspPhePhePro)
c.5455_5456insATTTTTTCC (p.Ala1819delinsAspPhePhePro)
c.5131_5132insATTTTTTCC (p.Ala1711delinsAspPhePhePro)
11g.118503442C>ACA382806000KMT2Ac.7649C>A (p.Ala2550Glu)
c.7640C>A (p.Ala2547Glu)
c.1589C>A (p.Ala530Glu)
c.1847C>A (p.Ala616Glu)
c.7622C>A (p.Ala2541Glu)
c.7541C>A (p.Ala2514Glu)
n.6892C>A
c.7550C>A (p.Ala2517Glu)
c.7427C>A (p.Ala2476Glu)
n.1677C>A
c.5033C>A (p.Ala1678Glu)
c.7646C>A (p.Ala2549Glu)
c.5456C>A (p.Ala1819Glu)
c.5132C>A (p.Ala1711Glu)
 dbSNP
11g.118503442C>GCA382805996KMT2Ac.7649C>G (p.Ala2550Gly)
c.7640C>G (p.Ala2547Gly)
c.1589C>G (p.Ala530Gly)
c.1847C>G (p.Ala616Gly)
c.7622C>G (p.Ala2541Gly)
c.7541C>G (p.Ala2514Gly)
n.6892C>G
c.7550C>G (p.Ala2517Gly)
c.7427C>G (p.Ala2476Gly)
n.1677C>G
c.5033C>G (p.Ala1678Gly)
c.7646C>G (p.Ala2549Gly)
c.5456C>G (p.Ala1819Gly)
c.5132C>G (p.Ala1711Gly)
11g.118503442C>TCA382805998KMT2Ac.7649C>T (p.Ala2550Val)
c.7640C>T (p.Ala2547Val)
c.1589C>T (p.Ala530Val)
c.1847C>T (p.Ala616Val)
c.7622C>T (p.Ala2541Val)
c.7541C>T (p.Ala2514Val)
n.6892C>T
c.7550C>T (p.Ala2517Val)
c.7427C>T (p.Ala2476Val)
n.1677C>T
c.5033C>T (p.Ala1678Val)
c.7646C>T (p.Ala2549Val)
c.5456C>T (p.Ala1819Val)
c.5132C>T (p.Ala1711Val)
11g.118503443A>CCA477359681KMT2Ac.7650A>C (p.Ala2550=)
c.7641A>C (p.Ala2547=)
c.1590A>C (p.Ala530=)
c.1848A>C (p.Ala616=)
c.7623A>C (p.Ala2541=)
c.7542A>C (p.Ala2514=)
n.6893A>C
c.7551A>C (p.Ala2517=)
c.7428A>C (p.Ala2476=)
n.1678A>C
c.5034A>C (p.Ala1678=)
c.7647A>C (p.Ala2549=)
c.5457A>C (p.Ala1819=)
c.5133A>C (p.Ala1711=)
11g.118503443A>GCA477359682KMT2Ac.7650A>G (p.Ala2550=)
c.7641A>G (p.Ala2547=)
c.1590A>G (p.Ala530=)
c.1848A>G (p.Ala616=)
c.7623A>G (p.Ala2541=)
c.7542A>G (p.Ala2514=)
n.6893A>G
c.7551A>G (p.Ala2517=)
c.7428A>G (p.Ala2476=)
n.1678A>G
c.5034A>G (p.Ala1678=)
c.7647A>G (p.Ala2549=)
c.5457A>G (p.Ala1819=)
c.5133A>G (p.Ala1711=)
11g.118503443A>TCA477359683KMT2Ac.7650A>T (p.Ala2550=)
c.7641A>T (p.Ala2547=)
c.1590A>T (p.Ala530=)
c.1848A>T (p.Ala616=)
c.7623A>T (p.Ala2541=)
c.7542A>T (p.Ala2514=)
n.6893A>T
c.7551A>T (p.Ala2517=)
c.7428A>T (p.Ala2476=)
n.1678A>T
c.5034A>T (p.Ala1678=)
c.7647A>T (p.Ala2549=)
c.5457A>T (p.Ala1819=)
c.5133A>T (p.Ala1711=)
11g.118503444C>ACA382806002KMT2Ac.7651C>A (p.Pro2551Thr)
c.7642C>A (p.Pro2548Thr)
c.1591C>A (p.Pro531Thr)
c.1849C>A (p.Pro617Thr)
c.7624C>A (p.Pro2542Thr)
c.7543C>A (p.Pro2515Thr)
n.6894C>A
c.7552C>A (p.Pro2518Thr)
c.7429C>A (p.Pro2477Thr)
n.1679C>A
c.5035C>A (p.Pro1679Thr)
c.7648C>A (p.Pro2550Thr)
c.5458C>A (p.Pro1820Thr)
c.5134C>A (p.Pro1712Thr)
11g.118503444C=CA2003527890KMT2Ac.7651C= (p.Pro2551=)
c.7642C= (p.Pro2548=)
c.1591C= (p.Pro531=)
c.1849C= (p.Pro617=)
c.7624C= (p.Pro2542=)
c.7543C= (p.Pro2515=)
n.6894C=
c.7552C= (p.Pro2518=)
c.7429C= (p.Pro2477=)
n.1679C=
c.5035C= (p.Pro1679=)
c.7648C= (p.Pro2550=)
c.5458C= (p.Pro1820=)
c.5134C= (p.Pro1712=)
11g.118503444C>GCA382806003KMT2Ac.7651C>G (p.Pro2551Ala)
c.7642C>G (p.Pro2548Ala)
c.1591C>G (p.Pro531Ala)
c.1849C>G (p.Pro617Ala)
c.7624C>G (p.Pro2542Ala)
c.7543C>G (p.Pro2515Ala)
n.6894C>G
c.7552C>G (p.Pro2518Ala)
c.7429C>G (p.Pro2477Ala)
n.1679C>G
c.5035C>G (p.Pro1679Ala)
c.7648C>G (p.Pro2550Ala)
c.5458C>G (p.Pro1820Ala)
c.5134C>G (p.Pro1712Ala)
 gnomAD v4
11g.118503444C>TCA229526907KMT2Ac.7651C>T (p.Pro2551Ser)
c.7642C>T (p.Pro2548Ser)
c.1591C>T (p.Pro531Ser)
c.1849C>T (p.Pro617Ser)
c.7624C>T (p.Pro2542Ser)
c.7543C>T (p.Pro2515Ser)
n.6894C>T
c.7552C>T (p.Pro2518Ser)
c.7429C>T (p.Pro2477Ser)
n.1679C>T
c.5035C>T (p.Pro1679Ser)
c.7648C>T (p.Pro2550Ser)
c.5458C>T (p.Pro1820Ser)
c.5134C>T (p.Pro1712Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503445C>ACA382806004KMT2Ac.7652C>A (p.Pro2551Gln)
c.7643C>A (p.Pro2548Gln)
c.1592C>A (p.Pro531Gln)
c.1850C>A (p.Pro617Gln)
c.7625C>A (p.Pro2542Gln)
c.7544C>A (p.Pro2515Gln)
n.6895C>A
c.7553C>A (p.Pro2518Gln)
c.7430C>A (p.Pro2477Gln)
n.1680C>A
c.5036C>A (p.Pro1679Gln)
c.7649C>A (p.Pro2550Gln)
c.5459C>A (p.Pro1820Gln)
c.5135C>A (p.Pro1712Gln)
 dbSNP COSMIC COSMIC
11g.118503445C>GCA382806005KMT2Ac.7652C>G (p.Pro2551Arg)
c.7643C>G (p.Pro2548Arg)
c.1592C>G (p.Pro531Arg)
c.1850C>G (p.Pro617Arg)
c.7625C>G (p.Pro2542Arg)
c.7544C>G (p.Pro2515Arg)
n.6895C>G
c.7553C>G (p.Pro2518Arg)
c.7430C>G (p.Pro2477Arg)
n.1680C>G
c.5036C>G (p.Pro1679Arg)
c.7649C>G (p.Pro2550Arg)
c.5459C>G (p.Pro1820Arg)
c.5135C>G (p.Pro1712Arg)
11g.118503445C>TCA382806006KMT2Ac.7652C>T (p.Pro2551Leu)
c.7643C>T (p.Pro2548Leu)
c.1592C>T (p.Pro531Leu)
c.1850C>T (p.Pro617Leu)
c.7625C>T (p.Pro2542Leu)
c.7544C>T (p.Pro2515Leu)
n.6895C>T
c.7553C>T (p.Pro2518Leu)
c.7430C>T (p.Pro2477Leu)
n.1680C>T
c.5036C>T (p.Pro1679Leu)
c.7649C>T (p.Pro2550Leu)
c.5459C>T (p.Pro1820Leu)
c.5135C>T (p.Pro1712Leu)
11g.118503446A>CCA477359690KMT2Ac.7653A>C (p.Pro2551=)
c.7644A>C (p.Pro2548=)
c.1593A>C (p.Pro531=)
c.1851A>C (p.Pro617=)
c.7626A>C (p.Pro2542=)
c.7545A>C (p.Pro2515=)
n.6896A>C
c.7554A>C (p.Pro2518=)
c.7431A>C (p.Pro2477=)
n.1681A>C
c.5037A>C (p.Pro1679=)
c.7650A>C (p.Pro2550=)
c.5460A>C (p.Pro1820=)
c.5136A>C (p.Pro1712=)
11g.118503446A>GCA477359689KMT2Ac.7653A>G (p.Pro2551=)
c.7644A>G (p.Pro2548=)
c.1593A>G (p.Pro531=)
c.1851A>G (p.Pro617=)
c.7626A>G (p.Pro2542=)
c.7545A>G (p.Pro2515=)
n.6896A>G
c.7554A>G (p.Pro2518=)
c.7431A>G (p.Pro2477=)
n.1681A>G
c.5037A>G (p.Pro1679=)
c.7650A>G (p.Pro2550=)
c.5460A>G (p.Pro1820=)
c.5136A>G (p.Pro1712=)
11g.118503446A>TCA477359686KMT2Ac.7653A>T (p.Pro2551=)
c.7644A>T (p.Pro2548=)
c.1593A>T (p.Pro531=)
c.1851A>T (p.Pro617=)
c.7626A>T (p.Pro2542=)
c.7545A>T (p.Pro2515=)
n.6896A>T
c.7554A>T (p.Pro2518=)
c.7431A>T (p.Pro2477=)
n.1681A>T
c.5037A>T (p.Pro1679=)
c.7650A>T (p.Pro2550=)
c.5460A>T (p.Pro1820=)
c.5136A>T (p.Pro1712=)
11g.118503447C>ACA477359691KMT2Ac.7654C>A (p.Arg2552=)
c.7645C>A (p.Arg2549=)
c.1594C>A (p.Arg532=)
c.1852C>A (p.Arg618=)
c.7627C>A (p.Arg2543=)
c.7546C>A (p.Arg2516=)
n.6897C>A
c.7555C>A (p.Arg2519=)
c.7432C>A (p.Arg2478=)
n.1682C>A
c.5038C>A (p.Arg1680=)
c.7651C>A (p.Arg2551=)
c.5461C>A (p.Arg1821=)
c.5137C>A (p.Arg1713=)
11g.118503447C=CA2003527894KMT2Ac.7654C= (p.Arg2552=)
c.7645C= (p.Arg2549=)
c.1594C= (p.Arg532=)
c.1852C= (p.Arg618=)
c.7627C= (p.Arg2543=)
c.7546C= (p.Arg2516=)
n.6897C=
c.7555C= (p.Arg2519=)
c.7432C= (p.Arg2478=)
n.1682C=
c.5038C= (p.Arg1680=)
c.7651C= (p.Arg2551=)
c.5461C= (p.Arg1821=)
c.5137C= (p.Arg1713=)
11g.118503447C>GCA382806007KMT2Ac.7654C>G (p.Arg2552Gly)
c.7645C>G (p.Arg2549Gly)
c.1594C>G (p.Arg532Gly)
c.1852C>G (p.Arg618Gly)
c.7627C>G (p.Arg2543Gly)
c.7546C>G (p.Arg2516Gly)
n.6897C>G
c.7555C>G (p.Arg2519Gly)
c.7432C>G (p.Arg2478Gly)
n.1682C>G
c.5038C>G (p.Arg1680Gly)
c.7651C>G (p.Arg2551Gly)
c.5461C>G (p.Arg1821Gly)
c.5137C>G (p.Arg1713Gly)
 dbSNP
11g.118503447C>TCA6304411KMT2Ac.7654C>T (p.Arg2552Trp)
c.7645C>T (p.Arg2549Trp)
c.1594C>T (p.Arg532Trp)
c.1852C>T (p.Arg618Trp)
c.7627C>T (p.Arg2543Trp)
c.7546C>T (p.Arg2516Trp)
n.6897C>T
c.7555C>T (p.Arg2519Trp)
c.7432C>T (p.Arg2478Trp)
n.1682C>T
c.5038C>T (p.Arg1680Trp)
c.7651C>T (p.Arg2551Trp)
c.5461C>T (p.Arg1821Trp)
c.5137C>T (p.Arg1713Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503448G>ACA6304412KMT2Ac.7655G>A (p.Arg2552Gln)
c.7646G>A (p.Arg2549Gln)
c.1595G>A (p.Arg532Gln)
c.1853G>A (p.Arg618Gln)
c.7628G>A (p.Arg2543Gln)
c.7547G>A (p.Arg2516Gln)
n.6898G>A
c.7556G>A (p.Arg2519Gln)
c.7433G>A (p.Arg2478Gln)
n.1683G>A
c.5039G>A (p.Arg1680Gln)
c.7652G>A (p.Arg2551Gln)
c.5462G>A (p.Arg1821Gln)
c.5138G>A (p.Arg1713Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503448G>CCA382806008KMT2Ac.7655G>C (p.Arg2552Pro)
c.7646G>C (p.Arg2549Pro)
c.1595G>C (p.Arg532Pro)
c.1853G>C (p.Arg618Pro)
c.7628G>C (p.Arg2543Pro)
c.7547G>C (p.Arg2516Pro)
n.6898G>C
c.7556G>C (p.Arg2519Pro)
c.7433G>C (p.Arg2478Pro)
n.1683G>C
c.5039G>C (p.Arg1680Pro)
c.7652G>C (p.Arg2551Pro)
c.5462G>C (p.Arg1821Pro)
c.5138G>C (p.Arg1713Pro)
11g.118503448G=CA2003527896KMT2Ac.7655G= (p.Arg2552=)
c.7646G= (p.Arg2549=)
c.1595G= (p.Arg532=)
c.1853G= (p.Arg618=)
c.7628G= (p.Arg2543=)
c.7547G= (p.Arg2516=)
n.6898G=
c.7556G= (p.Arg2519=)
c.7433G= (p.Arg2478=)
n.1683G=
c.5039G= (p.Arg1680=)
c.7652G= (p.Arg2551=)
c.5462G= (p.Arg1821=)
c.5138G= (p.Arg1713=)
11g.118503448G>TCA382806009KMT2Ac.7655G>T (p.Arg2552Leu)
c.7646G>T (p.Arg2549Leu)
c.1595G>T (p.Arg532Leu)
c.1853G>T (p.Arg618Leu)
c.7628G>T (p.Arg2543Leu)
c.7547G>T (p.Arg2516Leu)
n.6898G>T
c.7556G>T (p.Arg2519Leu)
c.7433G>T (p.Arg2478Leu)
n.1683G>T
c.5039G>T (p.Arg1680Leu)
c.7652G>T (p.Arg2551Leu)
c.5462G>T (p.Arg1821Leu)
c.5138G>T (p.Arg1713Leu)
11g.118503449G>ACA477359693KMT2Ac.7656G>A (p.Arg2552=)
c.7647G>A (p.Arg2549=)
c.1596G>A (p.Arg532=)
c.1854G>A (p.Arg618=)
c.7629G>A (p.Arg2543=)
c.7548G>A (p.Arg2516=)
n.6899G>A
c.7557G>A (p.Arg2519=)
c.7434G>A (p.Arg2478=)
n.1684G>A
c.5040G>A (p.Arg1680=)
c.7653G>A (p.Arg2551=)
c.5463G>A (p.Arg1821=)
c.5139G>A (p.Arg1713=)
 dbSNP
11g.118503449G>CCA477359694KMT2Ac.7656G>C (p.Arg2552=)
c.7647G>C (p.Arg2549=)
c.1596G>C (p.Arg532=)
c.1854G>C (p.Arg618=)
c.7629G>C (p.Arg2543=)
c.7548G>C (p.Arg2516=)
n.6899G>C
c.7557G>C (p.Arg2519=)
c.7434G>C (p.Arg2478=)
n.1684G>C
c.5040G>C (p.Arg1680=)
c.7653G>C (p.Arg2551=)
c.5463G>C (p.Arg1821=)
c.5139G>C (p.Arg1713=)
11g.118503449G>TCA477359695KMT2Ac.7656G>T (p.Arg2552=)
c.7647G>T (p.Arg2549=)
c.1596G>T (p.Arg532=)
c.1854G>T (p.Arg618=)
c.7629G>T (p.Arg2543=)
c.7548G>T (p.Arg2516=)
n.6899G>T
c.7557G>T (p.Arg2519=)
c.7434G>T (p.Arg2478=)
n.1684G>T
c.5040G>T (p.Arg1680=)
c.7653G>T (p.Arg2551=)
c.5463G>T (p.Arg1821=)
c.5139G>T (p.Arg1713=)
11g.118503450A=CA2003527900KMT2Ac.7657A= (p.Lys2553=)
c.7648A= (p.Lys2550=)
c.1597A= (p.Lys533=)
c.1855A= (p.Lys619=)
c.7630A= (p.Lys2544=)
c.7549A= (p.Lys2517=)
n.6900A=
c.7558A= (p.Lys2520=)
c.7435A= (p.Lys2479=)
n.1685A=
c.5041A= (p.Lys1681=)
c.7654A= (p.Lys2552=)
c.5464A= (p.Lys1822=)
c.5140A= (p.Lys1714=)
11g.118503450A>CCA382806010KMT2Ac.7657A>C (p.Lys2553Gln)
c.7648A>C (p.Lys2550Gln)
c.1597A>C (p.Lys533Gln)
c.1855A>C (p.Lys619Gln)
c.7630A>C (p.Lys2544Gln)
c.7549A>C (p.Lys2517Gln)
n.6900A>C
c.7558A>C (p.Lys2520Gln)
c.7435A>C (p.Lys2479Gln)
n.1685A>C
c.5041A>C (p.Lys1681Gln)
c.7654A>C (p.Lys2552Gln)
c.5464A>C (p.Lys1822Gln)
c.5140A>C (p.Lys1714Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.118503450A>GCA382806011KMT2Ac.7657A>G (p.Lys2553Glu)
c.7648A>G (p.Lys2550Glu)
c.1597A>G (p.Lys533Glu)
c.1855A>G (p.Lys619Glu)
c.7630A>G (p.Lys2544Glu)
c.7549A>G (p.Lys2517Glu)
n.6900A>G
c.7558A>G (p.Lys2520Glu)
c.7435A>G (p.Lys2479Glu)
n.1685A>G
c.5041A>G (p.Lys1681Glu)
c.7654A>G (p.Lys2552Glu)
c.5464A>G (p.Lys1822Glu)
c.5140A>G (p.Lys1714Glu)
11g.118503450A>TCA382806012KMT2Ac.7657A>T (p.Lys2553Ter)
c.7648A>T (p.Lys2550Ter)
c.1597A>T (p.Lys533Ter)
c.1855A>T (p.Lys619Ter)
c.7630A>T (p.Lys2544Ter)
c.7549A>T (p.Lys2517Ter)
n.6900A>T
c.7558A>T (p.Lys2520Ter)
c.7435A>T (p.Lys2479Ter)
n.1685A>T
c.5041A>T (p.Lys1681Ter)
c.7654A>T (p.Lys2552Ter)
c.5464A>T (p.Lys1822Ter)
c.5140A>T (p.Lys1714Ter)
11g.118503451A>CCA382806015KMT2Ac.7658A>C (p.Lys2553Thr)
c.7649A>C (p.Lys2550Thr)
c.1598A>C (p.Lys533Thr)
c.1856A>C (p.Lys619Thr)
c.7631A>C (p.Lys2544Thr)
c.7550A>C (p.Lys2517Thr)
n.6901A>C
c.7559A>C (p.Lys2520Thr)
c.7436A>C (p.Lys2479Thr)
n.1686A>C
c.5042A>C (p.Lys1681Thr)
c.7655A>C (p.Lys2552Thr)
c.5465A>C (p.Lys1822Thr)
c.5141A>C (p.Lys1714Thr)
11g.118503451A>GCA382806013KMT2Ac.7658A>G (p.Lys2553Arg)
c.7649A>G (p.Lys2550Arg)
c.1598A>G (p.Lys533Arg)
c.1856A>G (p.Lys619Arg)
c.7631A>G (p.Lys2544Arg)
c.7550A>G (p.Lys2517Arg)
n.6901A>G
c.7559A>G (p.Lys2520Arg)
c.7436A>G (p.Lys2479Arg)
n.1686A>G
c.5042A>G (p.Lys1681Arg)
c.7655A>G (p.Lys2552Arg)
c.5465A>G (p.Lys1822Arg)
c.5141A>G (p.Lys1714Arg)
11g.118503451A>TCA382806014KMT2Ac.7658A>T (p.Lys2553Ile)
c.7649A>T (p.Lys2550Ile)
c.1598A>T (p.Lys533Ile)
c.1856A>T (p.Lys619Ile)
c.7631A>T (p.Lys2544Ile)
c.7550A>T (p.Lys2517Ile)
n.6901A>T
c.7559A>T (p.Lys2520Ile)
c.7436A>T (p.Lys2479Ile)
n.1686A>T
c.5042A>T (p.Lys1681Ile)
c.7655A>T (p.Lys2552Ile)
c.5465A>T (p.Lys1822Ile)
c.5141A>T (p.Lys1714Ile)
11g.118503452A=CA2003527905KMT2Ac.7659A= (p.Lys2553=)
c.7650A= (p.Lys2550=)
c.1599A= (p.Lys533=)
c.1857A= (p.Lys619=)
c.7632A= (p.Lys2544=)
c.7551A= (p.Lys2517=)
n.6902A=
c.7560A= (p.Lys2520=)
c.7437A= (p.Lys2479=)
n.1687A=
c.5043A= (p.Lys1681=)
c.7656A= (p.Lys2552=)
c.5466A= (p.Lys1822=)
c.5142A= (p.Lys1714=)
11g.118503452A>CCA382806016KMT2Ac.7659A>C (p.Lys2553Asn)
c.7650A>C (p.Lys2550Asn)
c.1599A>C (p.Lys533Asn)
c.1857A>C (p.Lys619Asn)
c.7632A>C (p.Lys2544Asn)
c.7551A>C (p.Lys2517Asn)
n.6902A>C
c.7560A>C (p.Lys2520Asn)
c.7437A>C (p.Lys2479Asn)
n.1687A>C
c.5043A>C (p.Lys1681Asn)
c.7656A>C (p.Lys2552Asn)
c.5466A>C (p.Lys1822Asn)
c.5142A>C (p.Lys1714Asn)
11g.118503452A>GCA229526913KMT2Ac.7659A>G (p.Lys2553=)
c.7650A>G (p.Lys2550=)
c.1599A>G (p.Lys533=)
c.1857A>G (p.Lys619=)
c.7632A>G (p.Lys2544=)
c.7551A>G (p.Lys2517=)
n.6902A>G
c.7560A>G (p.Lys2520=)
c.7437A>G (p.Lys2479=)
n.1687A>G
c.5043A>G (p.Lys1681=)
c.7656A>G (p.Lys2552=)
c.5466A>G (p.Lys1822=)
c.5142A>G (p.Lys1714=)
 dbSNP
11g.118503452A>TCA382806017KMT2Ac.7659A>T (p.Lys2553Asn)
c.7650A>T (p.Lys2550Asn)
c.1599A>T (p.Lys533Asn)
c.1857A>T (p.Lys619Asn)
c.7632A>T (p.Lys2544Asn)
c.7551A>T (p.Lys2517Asn)
n.6902A>T
c.7560A>T (p.Lys2520Asn)
c.7437A>T (p.Lys2479Asn)
n.1687A>T
c.5043A>T (p.Lys1681Asn)
c.7656A>T (p.Lys2552Asn)
c.5466A>T (p.Lys1822Asn)
c.5142A>T (p.Lys1714Asn)
 ClinVar
11g.118503453C>ACA382806018KMT2Ac.7660C>A (p.Arg2554Ser)
c.7651C>A (p.Arg2551Ser)
c.1600C>A (p.Arg534Ser)
c.1858C>A (p.Arg620Ser)
c.7633C>A (p.Arg2545Ser)
c.7552C>A (p.Arg2518Ser)
n.6903C>A
c.7561C>A (p.Arg2521Ser)
c.7438C>A (p.Arg2480Ser)
n.1688C>A
c.5044C>A (p.Arg1682Ser)
c.7657C>A (p.Arg2553Ser)
c.5467C>A (p.Arg1823Ser)
c.5143C>A (p.Arg1715Ser)
 gnomAD v4
11g.118503453C=CA2003527912KMT2Ac.7660C= (p.Arg2554=)
c.7651C= (p.Arg2551=)
c.1600C= (p.Arg534=)
c.1858C= (p.Arg620=)
c.7633C= (p.Arg2545=)
c.7552C= (p.Arg2518=)
n.6903C=
c.7561C= (p.Arg2521=)
c.7438C= (p.Arg2480=)
n.1688C=
c.5044C= (p.Arg1682=)
c.7657C= (p.Arg2553=)
c.5467C= (p.Arg1823=)
c.5143C= (p.Arg1715=)
11g.118503453C>GCA382806019KMT2Ac.7660C>G (p.Arg2554Gly)
c.7651C>G (p.Arg2551Gly)
c.1600C>G (p.Arg534Gly)
c.1858C>G (p.Arg620Gly)
c.7633C>G (p.Arg2545Gly)
c.7552C>G (p.Arg2518Gly)
n.6903C>G
c.7561C>G (p.Arg2521Gly)
c.7438C>G (p.Arg2480Gly)
n.1688C>G
c.5044C>G (p.Arg1682Gly)
c.7657C>G (p.Arg2553Gly)
c.5467C>G (p.Arg1823Gly)
c.5143C>G (p.Arg1715Gly)
11g.118503453C>TCA6304413KMT2Ac.7660C>T (p.Arg2554Cys)
c.7651C>T (p.Arg2551Cys)
c.1600C>T (p.Arg534Cys)
c.1858C>T (p.Arg620Cys)
c.7633C>T (p.Arg2545Cys)
c.7552C>T (p.Arg2518Cys)
n.6903C>T
c.7561C>T (p.Arg2521Cys)
c.7438C>T (p.Arg2480Cys)
n.1688C>T
c.5044C>T (p.Arg1682Cys)
c.7657C>T (p.Arg2553Cys)
c.5467C>T (p.Arg1823Cys)
c.5143C>T (p.Arg1715Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503454G>ACA382806020KMT2Ac.7661G>A (p.Arg2554His)
c.7652G>A (p.Arg2551His)
c.1601G>A (p.Arg534His)
c.1859G>A (p.Arg620His)
c.7634G>A (p.Arg2545His)
c.7553G>A (p.Arg2518His)
n.6904G>A
c.7562G>A (p.Arg2521His)
c.7439G>A (p.Arg2480His)
n.1689G>A
c.5045G>A (p.Arg1682His)
c.7658G>A (p.Arg2553His)
c.5468G>A (p.Arg1823His)
c.5144G>A (p.Arg1715His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118503454G>CCA382806021KMT2Ac.7661G>C (p.Arg2554Pro)
c.7652G>C (p.Arg2551Pro)
c.1601G>C (p.Arg534Pro)
c.1859G>C (p.Arg620Pro)
c.7634G>C (p.Arg2545Pro)
c.7553G>C (p.Arg2518Pro)
n.6904G>C
c.7562G>C (p.Arg2521Pro)
c.7439G>C (p.Arg2480Pro)
n.1689G>C
c.5045G>C (p.Arg1682Pro)
c.7658G>C (p.Arg2553Pro)
c.5468G>C (p.Arg1823Pro)
c.5144G>C (p.Arg1715Pro)
11g.118503454G=CA2003527914KMT2Ac.7661G= (p.Arg2554=)
c.7652G= (p.Arg2551=)
c.1601G= (p.Arg534=)
c.1859G= (p.Arg620=)
c.7634G= (p.Arg2545=)
c.7553G= (p.Arg2518=)
n.6904G=
c.7562G= (p.Arg2521=)
c.7439G= (p.Arg2480=)
n.1689G=
c.5045G= (p.Arg1682=)
c.7658G= (p.Arg2553=)
c.5468G= (p.Arg1823=)
c.5144G= (p.Arg1715=)
11g.118503454G>TCA382806022KMT2Ac.7661G>T (p.Arg2554Leu)
c.7652G>T (p.Arg2551Leu)
c.1601G>T (p.Arg534Leu)
c.1859G>T (p.Arg620Leu)
c.7634G>T (p.Arg2545Leu)
c.7553G>T (p.Arg2518Leu)
n.6904G>T
c.7562G>T (p.Arg2521Leu)
c.7439G>T (p.Arg2480Leu)
n.1689G>T
c.5045G>T (p.Arg1682Leu)
c.7658G>T (p.Arg2553Leu)
c.5468G>T (p.Arg1823Leu)
c.5144G>T (p.Arg1715Leu)
 COSMIC COSMIC
11g.118503454_118503455insTTACATGGTCGTTGGCCCA2725065488KMT2Ac.7661_7662insTTACATGGTCGTTGGCC (p.Thr2555TyrfsTer10)
c.7652_7653insTTACATGGTCGTTGGCC (p.Thr2552TyrfsTer10)
c.1601_1602insTTACATGGTCGTTGGCC (p.Thr535TyrfsTer10)
c.1859_1860insTTACATGGTCGTTGGCC (p.Thr621TyrfsTer10)
c.7634_7635insTTACATGGTCGTTGGCC (p.Thr2546TyrfsTer10)
c.7553_7554insTTACATGGTCGTTGGCC (p.Thr2519TyrfsTer10)
n.6904_6905insTTACATGGTCGTTGGCC
c.7562_7563insTTACATGGTCGTTGGCC (p.Thr2522TyrfsTer10)
c.7439_7440insTTACATGGTCGTTGGCC (p.Thr2481TyrfsTer10)
n.1689_1690insTTACATGGTCGTTGGCC
c.5045_5046insTTACATGGTCGTTGGCC (p.Thr1683TyrfsTer10)
c.7658_7659insTTACATGGTCGTTGGCC (p.Thr2554TyrfsTer10)
c.5468_5469insTTACATGGTCGTTGGCC (p.Thr1824TyrfsTer10)
c.5144_5145insTTACATGGTCGTTGGCC (p.Thr1716TyrfsTer10)
 dbSNP
11g.118503455C>ACA477359704KMT2Ac.7662C>A (p.Arg2554=)
c.7653C>A (p.Arg2551=)
c.1602C>A (p.Arg534=)
c.1860C>A (p.Arg620=)
c.7635C>A (p.Arg2545=)
c.7554C>A (p.Arg2518=)
n.6905C>A
c.7563C>A (p.Arg2521=)
c.7440C>A (p.Arg2480=)
n.1690C>A
c.5046C>A (p.Arg1682=)
c.7659C>A (p.Arg2553=)
c.5469C>A (p.Arg1823=)
c.5145C>A (p.Arg1715=)
11g.118503455C=CA2003527918KMT2Ac.7662C= (p.Arg2554=)
c.7653C= (p.Arg2551=)
c.1602C= (p.Arg534=)
c.1860C= (p.Arg620=)
c.7635C= (p.Arg2545=)
c.7554C= (p.Arg2518=)
n.6905C=
c.7563C= (p.Arg2521=)
c.7440C= (p.Arg2480=)
n.1690C=
c.5046C= (p.Arg1682=)
c.7659C= (p.Arg2553=)
c.5469C= (p.Arg1823=)
c.5145C= (p.Arg1715=)
11g.118503455C>GCA6304414KMT2Ac.7662C>G (p.Arg2554=)
c.7653C>G (p.Arg2551=)
c.1602C>G (p.Arg534=)
c.1860C>G (p.Arg620=)
c.7635C>G (p.Arg2545=)
c.7554C>G (p.Arg2518=)
n.6905C>G
c.7563C>G (p.Arg2521=)
c.7440C>G (p.Arg2480=)
n.1690C>G
c.5046C>G (p.Arg1682=)
c.7659C>G (p.Arg2553=)
c.5469C>G (p.Arg1823=)
c.5145C>G (p.Arg1715=)
 dbSNP ExAC
11g.118503455C>TCA477359707KMT2Ac.7662C>T (p.Arg2554=)
c.7653C>T (p.Arg2551=)
c.1602C>T (p.Arg534=)
c.1860C>T (p.Arg620=)
c.7635C>T (p.Arg2545=)
c.7554C>T (p.Arg2518=)
n.6905C>T
c.7563C>T (p.Arg2521=)
c.7440C>T (p.Arg2480=)
n.1690C>T
c.5046C>T (p.Arg1682=)
c.7659C>T (p.Arg2553=)
c.5469C>T (p.Arg1823=)
c.5145C>T (p.Arg1715=)
 ClinVar gnomAD v4
11g.118503456A>CCA382806023KMT2Ac.7663A>C (p.Thr2555Pro)
c.7654A>C (p.Thr2552Pro)
c.1603A>C (p.Thr535Pro)
c.1861A>C (p.Thr621Pro)
c.7636A>C (p.Thr2546Pro)
c.7555A>C (p.Thr2519Pro)
n.6906A>C
c.7564A>C (p.Thr2522Pro)
c.7441A>C (p.Thr2481Pro)
n.1691A>C
c.5047A>C (p.Thr1683Pro)
c.7660A>C (p.Thr2554Pro)
c.5470A>C (p.Thr1824Pro)
c.5146A>C (p.Thr1716Pro)
11g.118503456A>GCA382806024KMT2Ac.7663A>G (p.Thr2555Ala)
c.7654A>G (p.Thr2552Ala)
c.1603A>G (p.Thr535Ala)
c.1861A>G (p.Thr621Ala)
c.7636A>G (p.Thr2546Ala)
c.7555A>G (p.Thr2519Ala)
n.6906A>G
c.7564A>G (p.Thr2522Ala)
c.7441A>G (p.Thr2481Ala)
n.1691A>G
c.5047A>G (p.Thr1683Ala)
c.7660A>G (p.Thr2554Ala)
c.5470A>G (p.Thr1824Ala)
c.5146A>G (p.Thr1716Ala)
 gnomAD v4
11g.118503456A>TCA382806025KMT2Ac.7663A>T (p.Thr2555Ser)
c.7654A>T (p.Thr2552Ser)
c.1603A>T (p.Thr535Ser)
c.1861A>T (p.Thr621Ser)
c.7636A>T (p.Thr2546Ser)
c.7555A>T (p.Thr2519Ser)
n.6906A>T
c.7564A>T (p.Thr2522Ser)
c.7441A>T (p.Thr2481Ser)
n.1691A>T
c.5047A>T (p.Thr1683Ser)
c.7660A>T (p.Thr2554Ser)
c.5470A>T (p.Thr1824Ser)
c.5146A>T (p.Thr1716Ser)
11g.118503456_118503460delinsACAGTCA2003527921KMT2Ac.7663_7667delinsACAGT (p.Thr2555=)
c.7654_7658delinsACAGT (p.Thr2552=)
c.1603_1607delinsACAGT (p.Thr535=)
c.1861_1865delinsACAGT (p.Thr621=)
c.7636_7640delinsACAGT (p.Thr2546=)
c.7555_7559delinsACAGT (p.Thr2519=)
n.6906_6910delinsACAGT
c.7564_7568delinsACAGT (p.Thr2522=)
c.7441_7445delinsACAGT (p.Thr2481=)
n.1691_1695delinsACAGT
c.5047_5051delinsACAGT (p.Thr1683=)
c.7660_7664delinsACAGT (p.Thr2554=)
c.5470_5474delinsACAGT (p.Thr1824=)
c.5146_5150delinsACAGT (p.Thr1716=)

Number of alleles fetched